Rhabdomyosarcoma 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

RMS2 MCID: RHB024 MIFTS: 65	Rhabdomyosarcoma 2 (RMS2) Categories: Bone diseases, Cancer diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Rhabdomyosarcoma 2

MalaCards integrated aliases for Rhabdomyosarcoma 2:

Name: Rhabdomyosarcoma 2 ⁵⁷ ⁷³

Alveolar Rhabdomyosarcoma ¹¹ ¹⁹ ⁵⁸ ²⁸ ⁵ ¹⁴ ¹⁶ ⁷¹ ⁷⁵

Rhabdomyosarcoma, Alveolar ⁵⁷ ⁷⁵ ⁴³

Rhabdomyosarcoma Alveolar ¹⁹ ⁷³ ⁵³

Alveolar Childhood Rhabdomyosarcoma ¹¹ ⁷¹

Rhabdomyosarcoma 2, Alveolar ⁵⁷ ¹²

Rms2 ⁵⁷ ⁷³

Rmsa ⁵⁷ ⁷³

Rhabdomyosarcoma, Type 2 ³⁸

Arms ¹⁹

Characteristics:

Inheritance:

Somatic mutation ⁵⁷

Prevelance:

Alveolar Rhabdomyosarcoma: <1/1000000 ⁵⁸

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Neuronal diseases Muscle diseases Respiratory diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Neoplasms

Malignant neoplasms of mesothelial and soft tissue

Malignant neoplasm of other connective and soft tissue

Malignant neoplasm: Connective and soft tissue, unspecified

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

Disease Ontology ¹¹ DOID:4051

OMIM® ⁵⁷ 268220

MeSH ⁴³ D018232

NCIt ⁴⁹ C3749 C7958

SNOMED-CT ⁶⁸ 404053004

MESH via Orphanet ⁴⁴ D018232

ICD10 via Orphanet ³² C49.9

UMLS via Orphanet ⁷² C0206655

Orphanet ⁵⁸ ORPHA99756

MedGen ⁴⁰ C0206655

SNOMED-CT via HPO ⁶⁹ 63449009

EFO ¹⁶ EFO_0000248

UMLS ⁷¹ C0206655 C0279613

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Summaries for Rhabdomyosarcoma 2

GARD: ¹⁹ A form of RHABDOMYOSARCOMA occurring mainly in adolescents and young adults, affecting muscles of the extremities, trunk, orbital region, etc. It is extremely malignant, metastasizing widely at an early stage. Few cures have been achieved and the prognosis is poor. \"Alveolar\" refers to its microscopic appearance simulating the cells of the respiratory alveolus. (Holland et al., Cancer Medicine, 3d ed, p2188)

MalaCards based summary: Rhabdomyosarcoma 2, also known as alveolar rhabdomyosarcoma, is related to embryonal rhabdomyosarcoma and sarcoma. An important gene associated with Rhabdomyosarcoma 2 is PAX7 (Paired Box 7), and among its related pathways/superpathways are Malignant pleural mesothelioma and Endometrial cancer. The drugs Lenograstim and Sargramostim have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, breast and lung, and related phenotypes are alveolar rhabdomyosarcoma and muscle

UniProtKB/Swiss-Prot: ⁷³ A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas.

Wikipedia: ⁷⁵ Alveolar rhabdomyosarcoma (ARMS) is a subtype of the rhabdomyosarcoma soft tissue cancer family whose... more...

More information from OMIM: 268220

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Related Diseases for Rhabdomyosarcoma 2

Diseases in the Rhabdomyosarcoma family:

Rhabdomyosarcoma 2

Diseases related to Rhabdomyosarcoma 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 386)

#	Related Disease	Score	Top Affiliating Genes
1	embryonal rhabdomyosarcoma	31.8	WT1 TP53 PAX7 PAX3 NF1 MYOG
2	sarcoma	31.2	WT1 TP53 MYOG MYOD1 MDM2 MB
3	skeletal muscle neoplasm	30.9	MYOG MYOD1 MB
4	hepatoblastoma	30.8	WT1 TP53 MYCN MDM2
5	breast rhabdomyosarcoma	30.8	PAX7 PAX3 MYOG MYOD1 MB FOXO1
6	osteogenic sarcoma	30.8	TP53 MDM2 IGF1R CDK4
7	small cell carcinoma	30.8	TP53 MYCN ENO2 ALK
8	mesenchymal cell neoplasm	30.8	TP53 NF1 MYOG MDM2 ALK
9	prostate rhabdomyosarcoma	30.7	MYOG MYOD1
10	ewing sarcoma	30.7	WT1 TP53 PAX7 PAX3 NF1 MYOG
11	beckwith-wiedemann syndrome	30.7	WT1 TP53 PAX7 NF1 MYOD1 IGF1R
12	skin benign neoplasm	30.7	TP53 NF1 ENO2
13	neurilemmoma	30.7	NF1 ENO2 DES
14	chondrosarcoma	30.6	MDM2 ENO2 DES CDK4
15	desmoplastic small round cell tumor	30.6	WT1 PAX7 PAX3 MYOG MYOD1 ENO2
16	muscular dystrophy, duchenne type	30.6	PAX7 MYOD1 MB DES
17	neuroblastoma	30.6	TP53 NF1 MYCN MDM2 IGF1R FOXO1
18	orbit rhabdomyosarcoma	30.6	PAX7 PAX3 NF1 MYOG MYOD1 MB
19	alveolar soft part sarcoma	30.6	PAX3 MYOG MYOD1 MB ENO2 DES
20	lymphoma	30.5	TP53 MDM2 IGF1R CDK4 ALK
21	connective tissue benign neoplasm	30.5	TP53 NF1 MDM2 ENO2 CDK4 ALK
22	pleomorphic rhabdomyosarcoma	30.5	TP53 PAX7 PAX3 NF1 MYOG MYOD1
23	retinoblastoma	30.5	TP53 MYOG MYOD1 MYCN MDM2 ENO2
24	malignant fibrous histiocytoma	30.5	TP53 MYOG MYOD1 MDM2 MB DES
25	malignant mesenchymoma	30.5	MYOG MYOD1 MDM2 MB
26	wilms tumor 1	30.4	WT1 TP53 PAX3 NF1 MYOG MYOD1
27	progressive relapsing multiple sclerosis	30.4	PAX7 PAX3 MYOG MYOD1 FOXO1
28	mesenchymal chondrosarcoma	30.4	MYOG MYOD1 ENO2 DES
29	melanoma	30.4	TP53 RMST PAX3 NF1 MDM2 IGF1R
30	sarcoma, synovial	30.4	WT1 PAX3 NF1 MYOG MYCN MDM2
31	liposarcoma	30.4	TP53 NF1 MYOG MDM2 MB IGF1R
32	botryoid rhabdomyosarcoma	30.4	WT1 PAX3 MYOG MYOD1 MB
33	familial retinoblastoma	30.4	TP53 NF1 MYCN MDM2 CDK4
34	blastoma	30.4	TP53 MYOG MYCN MB ENO2
35	inherited cancer-predisposing syndrome	30.4	TP53 NF1 CDK4 ALK
36	bap1 tumor predisposition syndrome	30.4	TP53 NF1 CDK4 ALK
37	malignant peripheral nerve sheath tumor	30.4	TP53 NF1 MYOG MDM2 CDK4
38	li-fraumeni syndrome	30.4	TP53 NF1 MYCN MDM2 CDK4
39	gliosarcoma	30.3	TP53 NF1 MYCN MDM2 ENO2 CDK4
40	myxofibrosarcoma	30.3	TP53 PAX3 NF1 MYOG MYOD1 MDM2
41	eye disease	30.3	TP53 NF1 MYCN MDM2 IGF1R CDK4
42	muscle cancer	30.2	WT1 TP53 RMST PAX7 PAX3 NF1
43	skeletal muscle cancer	30.2	WT1 TP53 RMST PAX7 PAX3 NF1
44	adenocarcinoma	30.2	TP53 MDM2 IGF1R CDK4 ALK
45	gastrointestinal stromal tumor	30.2	TP53 NF1 MDM2 IGF1R ENO2 DES
46	endometrial cancer	30.2	WT1 TP53 NF1 MDM2 IGF1R FOXO1
47	leiomyosarcoma	30.1	WT1 TP53 NF1 MYOG MDM2 MB
48	leukemia, acute myeloid	30.1	WT1 TP53 NF1 MYCN MDM2 IGF1R
49	rhabdomyosarcoma	30.0	WT1 TP53 RMST PAX7 PAX3 NF1
50	medulloblastoma	29.9	TP53 PAX3 NF1 MYOG MYOD1 MYCN

Graphical network of the top 20 diseases related to Rhabdomyosarcoma 2:

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Symptoms & Phenotypes for Rhabdomyosarcoma 2

Human phenotypes related to Rhabdomyosarcoma 2:

³⁰

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	alveolar rhabdomyosarcoma ³⁰			HP:0006779

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Neoplasia:
alveolar rhabdomyosarcoma

Clinical features from OMIM®:

268220 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Rhabdomyosarcoma 2:

⁴⁵ (show all 21)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	10.41	CDK4 DES FOXO1 IGF1R MB MDM2
2	homeostasis/metabolism	MP:0005376	10.41	ALK CDK4 DES FOXO1 IGF1R MB
3	growth/size/body region	MP:0005378	10.4	ALK CDK4 ENO2 FOXO1 IGF1R MB
4	normal	MP:0002873	10.36	ALK CDK4 FOXO1 MDM2 MYCN MYOD1
5	neoplasm	MP:0002006	10.33	ALK CDK4 FOXO1 IGF1R MDM2 MYOD1
6	cellular	MP:0005384	10.28	CDK4 DES ENO2 FOXO1 IGF1R MB
7	embryo	MP:0005380	10.27	CDK4 FOXO1 IGF1R MB MDM2 MYCN
8	no phenotypic analysis	MP:0003012	10.23	FOXO1 MDM2 MYCN MYOD1 MYOG PAX3
9	liver/biliary system	MP:0005370	10.21	CDK4 FOXO1 IGF1R MDM2 MYCN NF1
10	endocrine/exocrine gland	MP:0005379	10.21	ALK CDK4 FOXO1 IGF1R MDM2 NF1
11	behavior/neurological	MP:0005386	10.21	ALK CDK4 DES ENO2 FOXO1 IGF1R
12	cardiovascular system	MP:0005385	10.18	CDK4 DES FOXO1 IGF1R MB MDM2
13	craniofacial	MP:0005382	10.16	CDK4 ENO2 FOXO1 IGF1R MDM2 MYCN
14	digestive/alimentary	MP:0005381	10.13	CDK4 FOXO1 IGF1R MDM2 MYCN NF1
15	respiratory system	MP:0005388	10.1	ALK ENO2 IGF1R MB MYCN MYOD1
16	limbs/digits/tail	MP:0005371	10.09	FOXO1 IGF1R MDM2 MYCN NF1 PAX3
17	pigmentation	MP:0001186	10.08	ALK CDK4 MDM2 NF1 PAX3 TP53
18	reproductive system	MP:0005389	9.96	ALK CDK4 FOXO1 IGF1R MDM2 MYCN
19	skeleton	MP:0005390	9.93	ALK CDK4 FOXO1 IGF1R MDM2 MYCN
20	mortality/aging	MP:0010768	9.83	ALK CDK4 DES FOXO1 IGF1R MB
21	integument	MP:0010771	9.32	ALK CDK4 FOXO1 IGF1R MDM2 MYOG

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Drugs & Therapeutics for Rhabdomyosarcoma 2

Drugs for Rhabdomyosarcoma 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 62)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Lenograstim

Approved, Investigational

Phase 3

135968-09-1

Sargramostim

Approved, Investigational

Phase 3

123774-72-1

Topotecan

Approved, Investigational

Phase 3

123948-87-8, 119413-54-6

60699 60700

Cyclophosphamide

Approved, Investigational

Phase 3

50-18-0, 6055-19-2

2907

Vinorelbine

Approved, Investigational

Phase 3

71486-22-1

44424639 60780

Vincristine

Approved, Investigational

Phase 3

2068-78-2, 57-22-7

5978

Dactinomycin

Approved, Investigational

Phase 3

50-76-0

2019 457193

Morphine

Approved, Investigational

Phase 3

57-27-2

5288826

Sirolimus

Approved, Investigational

Phase 3

53123-88-9

5284616 6436030

Irinotecan

Approved, Investigational

Phase 3

97682-44-5, 100286-90-6

60838

Miconazole

Approved, Investigational, Vet_approved

Phase 3

22916-47-8

4189

Clotrimazole

Approved, Vet_approved

Phase 3

23593-75-1

2812

Molgramostim

Investigational

Phase 3

99283-10-0

Camptothecin

Experimental

Phase 3

7689-03-4

24360

Alkylating Agents

Phase 3

Anti-Bacterial Agents

Phase 3

Antirheumatic Agents

Phase 3

Antineoplastic Agents, Alkylating

Phase 3

Anti-Infective Agents

Phase 3

Antimitotic Agents

Phase 3

Tubulin Modulators

Phase 3

Antibiotics, Antitubercular

Phase 3

Immunosuppressive Agents

Phase 3

Immunologic Factors

Phase 3

Cactinomycin

Phase 3

topoisomerase I inhibitors

Phase 3

Antifungal Agents

Phase 3

Etoposide

Approved

Phase 2

33419-42-0

36462

Picropodophyllin

Approved, Investigational

Phase 2

518-28-5, 477-47-4

10607 72435

Ifosfamide

Approved

Phase 2

3778-73-2

3690

Temozolomide

Approved, Investigational

Phase 2

85622-93-1

5394

Mechlorethamine

Approved, Investigational

Phase 2

51-75-2

4033

Doxorubicin

Approved, Investigational

Phase 2

23214-92-8

31703

Bevacizumab

Approved, Investigational

Phase 2

216974-75-3

135329020

Fludarabine

Approved

Phase 1, Phase 2

75607-67-9, 21679-14-1

30751 657237

Crizotinib

Approved, Investigational

Phase 2

877399-52-5

11626560

Dasatinib

Approved, Investigational

Phase 1, Phase 2

302962-49-8

3062316

Palifosfamide

Investigational

Phase 2

31645-39-3

100427

Tirapazamine

Investigational

Phase 2

27314-97-2

135413511

Etoposide phosphate

Phase 2

16760419

Keratolytic Agents

Phase 2

Liposomal doxorubicin

Phase 2

Dermatologic Agents

Phase 2

Immunoglobulins, Intravenous

Phase 2

Immunoglobulin G

Phase 2

Angiogenesis Inhibitors

Phase 2

Antineoplastic Agents, Immunological

Phase 2

Endothelial Growth Factors

Phase 2

Vaccines

Phase 1, Phase 2

Keyhole-limpet hemocyanin

Phase 1, Phase 2

Interventional clinical trials:

(show all 19)

#	Name	Status	NCT ID	Phase	Drugs
1	Randomized Study of Vincristine, Actinomycin-D, and Cyclophosphamide (VAC) Versus VAC Alternating With Vincristine, Topotecan and Cyclophosphamide for Patients With Intermediate Risk Rhabdomyosarcoma	Completed	NCT00003958	Phase 3	vincristine sulfate;cyclophosphamide;topotecan hydrochloride
2	A Randomized Phase 3 Trial of Vinorelbine, Dactinomycin, and Cyclophosphamide (VINO-AC) Plus Maintenance Chemotherapy With Vinorelbine and Oral Cyclophosphamide (VINO-CPO) vs Vincristine, Dactinomycin and Cyclophosphamide (VAC) Plus VINO-CPO Maintenance in Patients With High Risk Rhabdomyosarcoma (HR-RMS)	Recruiting	NCT04994132	Phase 3	Cyclophosphamide;Vincristine Sulfate;Vinorelbine Tartrate
3	A Prospective Phase 3 Study of Patients With Newly Diagnosed Very Low-Risk and Low-Risk Fusion Negative Rhabdomyosarcoma	Recruiting	NCT05304585	Phase 3	Cyclophosphamide;Vincristine
4	Randomized Study of Vincristine, Dactinomycin and Cyclophosphamide (VAC) Versus VAC Alternating With Vincristine and Irinotecan (VI) for Patients With Intermediate-Risk Rhabdomyosarcoma (RMS)	Active, not recruiting	NCT00354835	Phase 3	Irinotecan Hydrochloride;Cyclophosphamide;Vincristine Sulfate
5	A Randomized Phase 3 Study of Vincristine, Dactinomycin, Cyclophosphamide (VAC) Alternating With Vincristine and Irinotecan (VI) Versus VAC/VI Plus Temsirolimus (TORI, Torisel, NSC# 683864) in Patients With Intermediate Risk (IR) Rhabdomyosarcoma (RMS)	Suspended	NCT02567435	Phase 3	Cyclophosphamide;Irinotecan Hydrochloride;Temsirolimus;Vincristine Sulfate;Vinorelbine
6	A Pilot Study to Evaluate Novel Agents (Temozolomide and Cixutumumab [IMC-A12, Anti-IGF-IR Monoclonal Antibody NSC # 742460]) in Combination With Intensive Multi-agent Interval Compressed Therapy for Patients With High-Risk Rhabdomyosarcoma	Completed	NCT01055314	Phase 2	Cyclophosphamide;Doxorubicin Hydrochloride;Etoposide;Ifosfamide;Irinotecan Hydrochloride;Temozolomide;Vincristine Sulfate Liposome
7	A Randomized Phase II Trial of Bevacizumab (Avastin) and Temsirolimus (Torisel) in Combination With Intravenous Vinorelbine and Cyclophosphamide in Patients With Recurrent/Refractory Rhabdomyosarcoma	Completed	NCT01222715	Phase 2	Cyclophosphamide;Temsirolimus;Vinorelbine Tartrate
8	A Pilot Study of Tumor Vaccination and R-hIL-7 Following Standard Multimodality Therapy in Patients With High Risk Pediatric Solid Tumors	Completed	NCT00923351	Phase 1, Phase 2	Tumor Purged/CD25 Depleted Lymphocytes;rhIL-7
9	A Groupwide Randomized Phase II Window Study of Two Different Schedules of Irinotecan in Combination With Vincristine And Pilot Assessment of Safety and Efficacy of Tirapazamine Combined With Multiagent Chemotherapy for First Relapse or Progressive Disease in Rhabdomyosarcoma and Related Tumors	Completed	NCT00025363	Phase 2	vincristine sulfate;irinotecan hydrochloride;cyclophosphamide;doxorubicin hydrochloride;ifosfamide;etoposide;tirapazamine
10	Phase II Trial of Ixabepilone (BMS-247550), an Epothilone B Analog, in Children and Young Adults With Refractory Solid Tumors	Completed	NCT00331643	Phase 2	ixabepilone
11	A Phase 1/ 2 Study of BAY 1895344 (Elimusertib, NSC#810486) in Pediatric Patients With Relapsed or Refractory Solid Tumors	Recruiting	NCT05071209	Phase 1, Phase 2	Elimusertib
12	Cross-tumoral Phase 2 Clinical Trial Exploring Crizotinib (PF-02341066) in Patients With Advanced Tumors Induced by Causal Alterations of ALK and/or MET ("CREATE")	Active, not recruiting	NCT01524926	Phase 2	Crizotinib (PF-02341066)
13	A Phase I/II Trial of the Insulin-Like Growth Factor 1 Receptor (IGF-1R) Antibody AMG479 (Ganitumab) in Combination With the Src Family Kinase (SFK) Inhibitor Dasatinib in Patients With Embryonal and Alveolar Rhabdomyosarcoma	Terminated	NCT03041701	Phase 1, Phase 2	Dasatinib;Ganitumab
14	A Phase 1, Open-Label, Multicenter, Dose Escalation Study of TB-403 in Pediatric Subjects With Relapsed or Refractory Medulloblastoma, Neuroblastoma, Ewing Sarcoma or Alveolar Rhabdomyosarcoma	Completed	NCT02748135	Phase 1	TB-403 20mg/kg;TB-403 50mg/kg;TB-403 100mg/kg;TB-403 175mg/kg
15	Tissue Microarray Studies of the 12q13-q14 Amplicon in Alveolar Rhabdomyosarcoma	Completed	NCT01609803
16	Developmental Pathway Drug-Targets in Advanced Rhabdomyosarcomas	Completed	NCT01668095
17	Observational - Identifying and Validating Novel Mechanisms of Radiation Resistance in Rhabdomyosarcoma	Completed	NCT01626170
18	Observational - CRKL Expression at the Protein Level in Rhabdomyosarcoma Tumors by Tissue Microarray (TMA)	Completed	NCT01496573
19	Genetics of Embryonal and Alveolar Rhabdomyosarcoma Study (GEARS)	Recruiting	NCT03296371

Search NIH Clinical Center for Rhabdomyosarcoma 2

Cochrane evidence based reviews: rhabdomyosarcoma, alveolar

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Genetic Tests for Rhabdomyosarcoma 2

Genetic tests related to Rhabdomyosarcoma 2:

#	Genetic test	Affiliating Genes
1	Alveolar Rhabdomyosarcoma ²⁸	FOXO1 PAX3 PAX7

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Anatomical Context for Rhabdomyosarcoma 2

Organs/tissues related to Rhabdomyosarcoma 2:

MalaCards : Skeletal Muscle, Breast, Lung, Prostate, Bone Marrow, Lymph Node, Myeloid

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Publications for Rhabdomyosarcoma 2

Articles related to Rhabdomyosarcoma 2:

(show top 50) (show all 31017)

#	Title	Authors	PMID	Year
1	Mechanism for transcriptional gain of function resulting from chromosomal translocation in alveolar rhabdomyosarcoma. ⁵³ ⁶² ⁵⁷	Bennicelli JL...Barr FG	8643596	1996
2	Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma. ⁵³ ⁶² ⁵⁷	Galili N...Barr FG	8275086	1993
3	Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma. ⁵³ ⁶² ⁵⁷	Barr FG...Emanuel BS	8098985	1993
4	Detection of the PAX3-FKHR fusion gene in paediatric rhabdomyosarcoma: a reproducible predictor of outcome? ⁶² ⁵⁷	Anderson J...UK Children's Cancer Study Group (UKCCSG) and the UK Cancer Cytogenetics Group	11556833	2001
5	Localization of the t(2;13) breakpoint of alveolar rhabdomyosarcoma on a physical map of chromosome 2. ⁶² ⁵⁷	Barr FG...Emanuel BS	1505949	1992
6	Chromosomal sublocalization of the 2;13 translocation breakpoint in alveolar rhabdomyosarcoma. ⁶² ⁵⁷	Shapiro DN...Look AT	1382566	1992
7	Localization of the rhabdomyosarcoma t(2;13) breakpoint on a physical map of chromosome 13. ⁶² ⁵⁷	Barr FG...Emanuel BS	1783402	1991
8	Synergism between INK4a/ARF inactivation and aberrant HGF/SF signaling in rhabdomyosarcomagenesis. ⁵⁷	Sharp R...Merlino G	12368906	2002
9	Chromosomal analysis of sixteen human rhabdomyosarcomas. ⁵⁷	Wang-Wuu S...Lampkin B	3338090	1988
10	Translocation 2;8 in a congenital rhabdomyosarcoma. ⁵⁷	Hayashi Y...Yamamoto K	3342389	1988
11	A specific chromosomal abnormality in rhabdomyosarcoma. ⁵⁷	Douglass EC...Green AA	3691179	1987
12	The utility of FOXO1 fluorescence in situ hybridization (FISH) in formalin-fixed paraffin-embedded specimens in the diagnosis of alveolar rhabdomyosarcoma. ⁵³ ⁶²	Downs-Kelly E...Goldblum JR	19704258	2009
13	MI-63: a novel small-molecule inhibitor targets MDM2 and induces apoptosis in embryonal and alveolar rhabdomyosarcoma cells with wild-type p53. ⁵³ ⁶²	Canner JA...Lin J	19707204	2009
14	Structural basis for DNA recognition by the human PAX3 homeodomain. ⁵³ ⁶²	Birrane G...Ladias JA	19199574	2009
15	Alterations of RB1 gene in embryonal and alveolar rhabdomyosarcoma: special reference to utility of pRB immunoreactivity in differential diagnosis of rhabdomyosarcoma subtype. ⁵³ ⁶²	Kohashi K...Tsuneyoshi M	18386058	2008
16	Adult cutaneous alveolar rhabdomyosarcoma on the face diagnosed by the expression of PAX3-FKHR gene fusion transcripts. ⁵³ ⁶²	Nakagawa N...Yamanishi K	18705836	2008
17	Rhabdomyosarcoma an ubiquitous pediatric tumour. ⁵³ ⁶²	Verkarre V...Jaubert F	18727437	2008
18	Guilt by association: PAX3-FOXO1 regulates gene expression through selective destabilization of the EGR1 transcription factor. ⁵³ ⁶²	Roeb W...Arden KC	18414034	2008
19	[Diagnosis of micrometastases of alveolar rhabdomyosarcoma]. ⁵³ ⁶²	Blizniukov OP...Poliakov VG	18540440	2008
20	Detection of FOXO1 (FKHR) gene break-apart by fluorescence in situ hybridization in formalin-fixed, paraffin-embedded alveolar rhabdomyosarcomas and its clinicopathologic correlation. ⁵³ ⁶²	Mehra S...Zhang S	18303411	2008
21	Comparison of the proximal promoter regions of the PAX3 and PAX7 genes. ⁵³ ⁶²	Moller E...Panagopoulos I	17954266	2007
22	New genetic tactics to model alveolar rhabdomyosarcoma in the mouse. ⁵³ ⁶²	Keller C...Capecchi MR	16140913	2005
23	Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1. ⁵³ ⁶²	Wachtel M...Schafer BW	15313887	2004
24	Inducible short-term and stable long-term cell culture systems reveal that the PAX3-FKHR fusion oncoprotein regulates CXCR4, PAX3, and PAX7 expression. ⁵³ ⁶²	Tomescu O...Barr FG	15184910	2004
25	Amplification of CDK4, MDM2, SAS and GLI genes in leiomyosarcoma, alveolar and embryonal rhabdomyosarcoma. ⁵³ ⁶²	Ragazzini P...Benassi MS	15024701	2004
26	The MYCN oncoprotein as a drug development target. ⁵³ ⁶²	Lu X...Lunec J	12880971	2003
27	Identification of target genes regulated by PAX3 and PAX3-FKHR in embryogenesis and alveolar rhabdomyosarcoma. ⁵³ ⁶²	Barber TD...Friedman TB	11863357	2002
28	Transcriptional regulation of IGF-I receptor gene expression by the PAX3-FKHR oncoprotein. ⁵³ ⁶²	Ayalon D...Werner H	11735247	2001
29	Regulating the neoplastic phenotype using engineered transcriptional repressors. ⁵³ ⁶²	Fredericks WJ...Rauscher FJ	11164187	2001
30	Structural analysis of PAX7 rearrangements in alveolar rhabdomyosarcoma. ⁵³ ⁶²	Fitzgerald JC...Barr FG	10700864	2000
31	A genetic analysis of PAX3-FKHR, the oncogene of alveolar rhabdomyosarcoma. ⁵³ ⁶²	Kempf BE...Vogt PK	10616906	1999
32	PAX3 gene structure, alternative splicing and evolution. ⁵³ ⁶²	Barber TD...Friedman TB	10521655	1999
33	PAX3 and PAX7 exhibit conserved cis-acting transcription repression domains and utilize a common gain of function mechanism in alveolar rhabdomyosarcoma. ⁵³ ⁶²	Bennicelli JL...Barr FG	10439042	1999
34	The oncogenic potential of the Pax3-FKHR fusion protein requires the Pax3 homeodomain recognition helix but not the Pax3 paired-box DNA binding domain. ⁵³ ⁶²	Lam PY...Roussel MF	9858583	1999
35	Expression of WT1 in pediatric small cell tumors: report of two cases with a possible mesothelial origin. ⁵³ ⁶²	Thorner P...Zielenska M	9841704	1999
36	Normal and rearranged PAX3 expression in human rhabdomyosarcoma. ⁵³ ⁶²	Frascella E...Rosolen A	9546061	1998
37	Chromosomal translocations involving paired box transcription factors in human cancer. ⁵³ ⁶²	Barr FG	9570138	1997
38	The genomic organization and the full coding region of the human PAX7 gene. ⁵³ ⁶²	Vorobyov E...Horst J	9339373	1997
39	Translin recognition site sequences flank chromosome translocation breakpoints in alveolar rhabdomyosarcoma cell lines. ⁵³ ⁶²	Chalk JG...Mitchell CD	9294613	1997
40	[Pathologic diagnosis on bone and soft tissue tumors by molecular biological methods]. ⁵³ ⁶²	Nojima T...Abe S	9256013	1997
41	Expression of PAX3 in Ewing's sarcoma family of tumors. ⁵³ ⁶²	Schulte TW...Neckers LM	9169092	1997
42	Novel formation and amplification of the PAX7-FKHR fusion gene in a case of alveolar rhabdomyosarcoma. ⁵³ ⁶²	Weber-Hall S...Shipley J	8889501	1996
43	Cytogenetics and tissue culture of small round cell tumors of bone and soft tissue. ⁵³ ⁶²	Noguera R	8875708	1996
44	Alpha 2a-interferon-induced differentiation of human alveolar rhabdomyosarcoma cells: correlation with down-regulation of the insulin-like growth factor type I receptor. ⁵³ ⁶²	Thulasi R...Houghton JA	9052994	1996
45	MDM2 amplification in a primary alveolar rhabdomyosarcoma displaying a t(2;13)(q35;q14). ⁵³ ⁶²	Meddeb M...Bernheim A	8751388	1996
46	Structural characterization of the FKHR gene and its rearrangement in alveolar rhabdomyosarcoma. ⁵³ ⁶²	Davis RJ...Barr FG	8634710	1995
47	The alveolar rhabdomyosarcoma PAX3/FKHR fusion protein is a transcriptional activator. ⁵³ ⁶²	Sublett JE...Shapiro DN	7630639	1995
48	Wild type PAX3 protein and the PAX3-FKHR fusion protein of alveolar rhabdomyosarcoma contain potent, structurally distinct transcriptional activation domains. ⁵³ ⁶²	Bennicelli JL...Barr FG	7624119	1995
49	Antisense-mediated reduction in insulin-like growth factor-I receptor expression suppresses the malignant phenotype of a human alveolar rhabdomyosarcoma. ⁵³ ⁶²	Shapiro DN...Houghton PJ	8083365	1994
50	Fusion of PAX3 to a member of the forkhead family of transcription factors in human alveolar rhabdomyosarcoma. ⁵³ ⁶²	Shapiro DN...Naeve CW	8221646	1993

Sources

Genes for Rhabdomyosarcoma 2

Genes related to Rhabdomyosarcoma 2 (5 elite genes):

(show top 50) (show all 66)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PAX7	Paired Box 7	Protein Coding	1001.84	Molecular basis known ⁵⁷ Gene fusion ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	9973247 10700864 8889501 (more) 17954266 15313887 9570138 10439042 9339373 9479491
2	PAX3	Paired Box 3	Protein Coding	978.24	Molecular basis known ⁵⁷ Gene fusion ⁵⁸ Genetic Tests ²⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	9973247 8098985 11171995 (more) 8275086 7630639 9858583 8643596 11164187 15184910 16140913 11735247 11863357 10439042 10616906 9570138 19199574 18414034 9294613 8221646 10521655 9479491 7862145 15602708 15313887 17954266 10700864 9169092 7624119 8875708 8889501
3	FOXO1	Forkhead Box O1	Protein Coding	977.36	Molecular basis known ⁵⁷ Gene fusion ⁵⁸ Genetic Tests ²⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	11171995 7630639 8875708 (more) 8889501 9546061 19704258 7624119 8634710 8643596 9479491 11735247 10700864 15184910 18303411 16140913 9294613 9570138 10616906
4	TP53	Tumor Protein P53	Protein Coding	355.74	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	7706467
5	NF1	Neurofibromin 1	Protein Coding	354.97	Causative somatic mutation ⁵⁸ DISEASES inferred ¹⁴	34166060
6	RMST	Rhabdomyosarcoma 2 Associated Transcript	RNA Gene	31.84	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Gene name Summaries (show sections)
7	MYOG	Myogenin	Protein Coding	17.97	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10666368 18727437 18540440 (more) 18705836
8	MYOD1	Myogenic Differentiation 1	Protein Coding	15.05	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9256013
9	MYCN	MYCN Proto-Oncogene, BHLH Transcription Factor	Protein Coding	14.88	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12880971 9872655 2323837
10	MDM2	MDM2 Proto-Oncogene	Protein Coding	12.53	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15024701 8751388 19707204
11	MB	Myoglobin	Protein Coding	11.63	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	2119961
12	WT1	WT1 Transcription Factor	Protein Coding	11.56	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9841704
13	CDK4	Cyclin Dependent Kinase 4	Protein Coding	11.08	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15024701
14	ENO2	Enolase 2	Protein Coding	10.84	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	2119961
15	ALK	ALK Receptor Tyrosine Kinase	Protein Coding	10.44	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12405914
16	IGF1R	Insulin Like Growth Factor 1 Receptor	Protein Coding	10.17	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8083365 9052994
17	DES	Desmin	Protein Coding	9.73	Novoseek inferred ⁵³	18727437 2119961 18705836
18	CM034962-288		RNA Gene	8.8	GeneCards inferred via : Summaries (show sections)
19	ENSG00000258131	Novel Transcript	RNA Gene	8.74	GeneCards inferred via : Summaries (show sections)
20	ENSG00000273570		RNA Gene	8.74	GeneCards inferred via : Summaries (show sections)
21	ENSG00000273942		RNA Gene	8.74	GeneCards inferred via : Summaries (show sections)
22	ENSG00000274230		RNA Gene	8.74	GeneCards inferred via : Summaries (show sections)
23	ENSG00000275231		RNA Gene	8.74	GeneCards inferred via : Summaries (show sections)
24	ENSG00000275971		RNA Gene	8.74	GeneCards inferred via : Summaries (show sections)
25	ENSG00000276398		RNA Gene	8.74	GeneCards inferred via : Summaries (show sections)
26	ENSG00000277081		RNA Gene	8.74	GeneCards inferred via : Summaries (show sections)
27	ENSG00000278802		RNA Gene	8.74	GeneCards inferred via : Summaries (show sections)
28	TH	Tyrosine Hydroxylase	Protein Coding	8.55	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10393831 18057715
29	RB1	RB Transcriptional Corepressor 1	Protein Coding	8.29	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	18386058
30	DIABLO	Diablo IAP-Binding Mitochondrial Protein	Protein Coding	8.12	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12752217
31	RHD	Rh Blood Group D Antigen	Protein Coding	7.81	DISEASES inferred ¹⁴
32	EWSR1	EWS RNA Binding Protein 1	Protein Coding	7.7	DISEASES inferred ¹⁴
33	ENSG00000274819		RNA Gene	7.64	GeneCards inferred via : Summaries (show sections)
34	HSALNG0093344		RNA Gene	7.64	GeneCards inferred via : Summaries (show sections)
35	HSALNG0093347		RNA Gene	7.64	GeneCards inferred via : Summaries (show sections)
36	SS18	SS18 Subunit Of BAF Chromatin Remodeling Complex	Protein Coding	7.04	DISEASES inferred ¹⁴
37	SSX2	SSX Family Member 2	Protein Coding	6.88	DISEASES inferred ¹⁴
38	VGLL2	Vestigial Like Family Member 2	Protein Coding	6.57	DISEASES inferred ¹⁴
39	SSX1	SSX Family Member 1	Protein Coding	6.54	DISEASES inferred ¹⁴
40	NCOA2	Nuclear Receptor Coactivator 2	Protein Coding	6.37	DISEASES inferred ¹⁴
41	MYF6	Myogenic Factor 6	Protein Coding	6.32	DISEASES inferred ¹⁴
42	CCNB3	Cyclin B3	Protein Coding	6.17	DISEASES inferred ¹⁴
43	FOXO4	Forkhead Box O4	Protein Coding	6.14	DISEASES inferred ¹⁴
44	MYF5	Myogenic Factor 5	Protein Coding	6.11	DISEASES inferred ¹⁴
45	ASPSCR1	ASPSCR1 Tether For SLC2A4, UBX Domain Containing	Protein Coding	6.08	DISEASES inferred ¹⁴
46	FGFR4	Fibroblast Growth Factor Receptor 4	Protein Coding	5.99	DISEASES inferred ¹⁴
47	TFE3	Transcription Factor Binding To IGHM Enhancer 3	Protein Coding	5.87	DISEASES inferred ¹⁴
48	FOXO6	Forkhead Box O6	Protein Coding	5.86	DISEASES inferred ¹⁴
49	SMARCB1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1	Protein Coding	5.82	DISEASES inferred ¹⁴
50	FUS	FUS RNA Binding Protein	Protein Coding	5.79	DISEASES inferred ¹⁴

Sources

Variations for Rhabdomyosarcoma 2

ClinVar genetic disease variations for Rhabdomyosarcoma 2:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	PAX7	NM_001135254.2(PAX7):c.220C>T (p.Arg74Ter)	SNV	Likely Pathogenic	689508	rs1176071790	GRCh37: 1:18960931-18960931 GRCh38: 1:18634437-18634437
2	PAX3	NM_181458.4(PAX3):c.580G>A (p.Glu194Lys)	SNV	Uncertain Significance	504786	rs148454691	GRCh37: 2:223158892-223158892 GRCh38: 2:222294173-222294173
3	PAX7	NM_001135254.2(PAX7):c.335C>T (p.Pro112Leu)	SNV	Uncertain Significance	998310	rs142754204	GRCh37: 1:18961618-18961618 GRCh38: 1:18635124-18635124
4	PAX3	NM_181458.4(PAX3):c.540C>G (p.Ser180Arg)	SNV	Uncertain Significance	504788	rs200679164	GRCh37: 2:223158932-223158932 GRCh38: 2:222294213-222294213

Cosmic variations for Rhabdomyosarcoma 2:

⁸ (show top 50) (show all 679)

#	Cosmic Mut ID	Gene Symbol	COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype)	Mutation CDS	Mutation AA	GRCh38 Location	Conf
1	COSM142605762	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.754A>C	p.K252Q	17:7673749-7673749	21
2	COSM106096066	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.871A>C	p.K291Q	17:7673749-7673749	21
3	COSM144544530	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.494A>G	p.E165G	17:7674920-7674920	21
4	COSM144020071	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.695T>C	p.M232T	17:7674235-7674235	21
5	COSM112297123	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.871A>C	p.K291Q	17:7673749-7673749	21
6	COSM87906219	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.728T>C	p.M243T	17:7674235-7674235	21
7	COSM93229090	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.871A>C	p.K291Q	17:7673749-7673749	21
8	COSM145024780	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.611T>C	p.M204T	17:7674235-7674235	21
9	COSM121884328	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.332T>C	p.M111T	17:7674235-7674235	21
10	COSM143386796	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.134A>G	p.E45G	17:7674920-7674920	21
11	COSM143984574	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.394A>C	p.K132Q	17:7673749-7673749	21
12	COSM144120969	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.394A>C	p.K132Q	17:7673749-7673749	21
13	COSM122781709	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.475A>C	p.K159Q	17:7673749-7673749	21
14	COSM111802670	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.871A>C	p.K291Q	17:7673749-7673749	21
15	COSM106059837	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.728T>C	p.M243T	17:7674235-7674235	21
16	COSM87949760	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.871A>C	p.K291Q	17:7673749-7673749	21
17	COSM143413354	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.754A>C	p.K252Q	17:7673749-7673749	21
18	COSM111765613	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.728T>C	p.M243T	17:7674235-7674235	21
19	COSM112518565	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.611A>G	p.E204G	17:7674920-7674920	21
20	COSM144315701	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.611T>C	p.M204T	17:7674235-7674235	21
21	COSM106311017	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.611A>G	p.E204G	17:7674920-7674920	21
22	COSM145266096	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.494A>G	p.E165G	17:7674920-7674920	21
23	COSM142566772	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.611T>C	p.M204T	17:7674235-7674235	21
24	COSM144241386	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.578A>G	p.E193G	17:7674920-7674920	21
25	COSM93190462	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.728T>C	p.M243T	17:7674235-7674235	21
26	COSM121924001	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.475A>C	p.K159Q	17:7673749-7673749	21
27	COSM123002879	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.215A>G	p.E72G	17:7674920-7674920	21
28	COSM144696619	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.754A>C	p.K252Q	17:7673749-7673749	21
29	COSM122740466	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.332T>C	p.M111T	17:7674235-7674235	21
30	COSM144169972	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.134A>G	p.E45G	17:7674920-7674920	21
31	COSM142813804	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.494A>G	p.E165G	17:7674920-7674920	21
32	COSM143195323	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.394A>C	p.K132Q	17:7673749-7673749	21
33	COSM112008024	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.611A>G	p.E204G	17:7674920-7674920	21
34	COSM144302344	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.134A>G	p.E45G	17:7674920-7674920	21
35	COSM143949578	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.251T>C	p.M84T	17:7674235-7674235	21
36	COSM142842420	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.728T>C	p.M243T	17:7674235-7674235	21
37	COSM143076376	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.611A>G	p.E204G	17:7674920-7674920	21
38	COSM143162427	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.251T>C	p.M84T	17:7674235-7674235	21
39	COSM144091795	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.251T>C	p.M84T	17:7674235-7674235	21
40	COSM144658570	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.611T>C	p.M204T	17:7674235-7674235	21
41	COSM88205650	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.611A>G	p.E204G	17:7674920-7674920	21
42	COSM145057930	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.754A>C	p.K252Q	17:7673749-7673749	21
43	COSM144345669	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.754A>C	p.K252Q	17:7673749-7673749	21
44	COSM122278119	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.332T>C	p.M111T	17:7674235-7674235	21
45	COSM122153861	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.215A>G	p.E72G	17:7674920-7674920	21
46	COSM144930594	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.494A>G	p.E165G	17:7674920-7674920	21
47	COSM93438860	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.611A>G	p.E204G	17:7674920-7674920	21
48	COSM105901677	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.611A>G	p.E204G	17:7674920-7674920	21
49	COSM112259897	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.728T>C	p.M243T	17:7674235-7674235	21
50	COSM142871352	TP53	soft tissue,striated muscle,rhabdomyosarcoma,alveolar	c.871A>C	p.K291Q	17:7673749-7673749	21

Copy number variations for Rhabdomyosarcoma 2 from CNVD:

⁶

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	25460	1	18957499	19075360	Amplification	PAX7	Alveolar rhabdomyosarcoma
2	76221	13	28900000	50900000	Amplification	FOXO1	Alveolar rhabdomyosarcoma
3	141698	2	215300000	221500000	Amplification	PAX3	Alveolar rhabdomyosarcoma

Sources

Expression for Rhabdomyosarcoma 2

Search GEO for disease gene expression data for Rhabdomyosarcoma 2.

Sources

Pathways for Rhabdomyosarcoma 2

Pathways related to Rhabdomyosarcoma 2 according to GeneCards Suite gene sharing:

(show all 19)

#	Super pathways	Score	Top Affiliating Genes
1	Malignant pleural mesothelioma ⁷⁴	12.52	TP53 MDM2 IGF1R FOXO1 CDK4
2	Endometrial cancer ⁷⁴ Show member pathways Chromosomal and microsatellite instability in colorectal cancer ⁷⁴ Melanoma ⁷⁴ Non-small cell lung cancer ⁷⁴ Pancreatic adenocarcinoma pathway ⁷⁴ Signal transduction PTEN pathway ²²	12.35	TP53 NF1 MDM2 IGF1R CDK4 ALK
3	Breast cancer pathway ⁷⁴ Show member pathways Embryonic stem cell pluripotency pathways ⁷⁴	12.31	TP53 MDM2 IGF1R CDK4
4	MAPK Signaling: Mitogens ⁶⁵ Show member pathways Akt Signaling Pathway ⁶⁵	11.9	TP53 MDM2 IGF1R FOXO1 CDK4
5	Senescence and autophagy in cancer ⁷⁴	11.78	TP53 MDM2 IGF1R
6	Retinoblastoma gene in cancer ⁷⁴	11.68	TP53 MDM2 CDK4
7	Thyroid hormones production and peripheral downstream signaling effects ⁷⁴	11.65	TP53 MDM2 FOXO1
8	Head and neck squamous cell carcinoma ⁷⁴	11.59	TP53 IGF1R CDK4
9	Integrated breast cancer pathway ⁷⁴	11.53	TP53 NF1 MDM2 FOXO1 CDK4
10	DYRK1A ⁷⁴	11.5	TP53 FOXO1 CDK4
11	Copper homeostasis ⁷⁴ Show member pathways Copper metabolism ⁷⁴ Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1) ⁶⁶	11.46	TP53 MDM2 FOXO1
12	DNA damage_ATM/ATR regulation of G1/S checkpoint ²²	11.3	TP53 MDM2 CDK4
13	Bladder cancer ⁷⁴	11.23	CDK4 MDM2 TP53
14	Regulation of retinoblastoma protein ⁶¹	11.2	PAX3 MYOD1 MDM2 CDK4
15	Signaling events mediated by HDAC Class III ⁶¹	11.19	TP53 MYOD1 FOXO1
16	Integrated cancer pathway ⁷⁴	11.16	TP53 MDM2 CDK4
17	Oncogene Induced Senescence ⁶⁶	11.06	TP53 MDM2 CDK4
18	Mesenchymal Stem Cells and Lineage-specific Markers ⁶⁵	11	PAX7 PAX3 MYOG MYOD1 DES
19	Somatroph axis (GH) and its relationship to dietary restriction and aging ⁷⁴	10.19	IGF1R FOXO1

Sources

GO Terms for Rhabdomyosarcoma 2

Cellular components related to Rhabdomyosarcoma 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	chromatin	GO:0000785	9.53	TP53 PAX7 PAX3 MYOG MYOD1 MYCN

Biological processes related to Rhabdomyosarcoma 2 according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of DNA-templated transcription	GO:0045893	10.23	WT1 TP53 PAX3 MYOG MYOD1 MYCN
2	negative regulation of apoptotic process	GO:0043066	10.22	WT1 TP53 PAX7 MDM2 IGF1R FOXO1
3	regulation of DNA-templated transcription	GO:0006355	10.1	FOXO1 MYCN MYOD1 MYOG PAX3 PAX7
4	skeletal muscle tissue development	GO:0007519	9.97	NF1 MYOG MYOD1
5	cellular response to estradiol stimulus	GO:0071392	9.8	MYOG MYOD1 IGF1R
6	heart development	GO:0007507	9.76	WT1 TP53 NF1 MDM2 MB
7	muscle cell fate commitment	GO:0042693	9.67	MYOG MYOD1
8	positive regulation of miRNA maturation	GO:1903800	9.61	TP53 MYCN
9	cellular response to actinomycin D	GO:0072717	9.56	TP53 MDM2
10	muscle organ development	GO:0007517	9.5	PAX7 PAX3 MYOG MYOD1
11	anatomical structure development	GO:0048856	9.1	PAX7 PAX3 MYOG MYOD1

Molecular functions related to Rhabdomyosarcoma 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA-binding transcription activator activity, RNA polymerase II-specific	GO:0001228	9.73	WT1 TP53 MYOG MYOD1 MYCN FOXO1
2	DNA-binding transcription factor activity	GO:0003700	9.5	WT1 TP53 PAX7 PAX3 MYOG MYOD1