MCID: CRV047
MIFTS: 58

Cervical Cancer, Somatic

Categories: Genetic diseases, Cancer diseases, Reproductive diseases

Aliases & Classifications for Cervical Cancer, Somatic

MalaCards integrated aliases for Cervical Cancer, Somatic:

Name: Cervical Cancer, Somatic 54 13
Cervical Cancer 38 12 71 52 41 3 14 69
Uterine Cervical Neoplasm 12 69
Cervix Cancer 12 71
Neoplasm of Uterine Cervix 12
Uterine Cervical Neoplasms 42
Tumor of the Cervix Uteri 12
Malignant Tumor of Cervix 69
Uterine Cervical Cancer 71
Cervix Uteri Cancer 12
Cervical Carcinoma 52
Cervical Neoplasm 12
Cervix Carcinoma 69
Cerca 71

Classifications:



External Ids:

OMIM 54 603956
Disease Ontology 12 DOID:4362
ICD10 33 C53 C53.9
ICD9CM 35 180 180.9
MeSH 42 D002583
NCIt 47 C2940 C9311
MedGen 40 C0302592
SNOMED-CT via HPO 65 108369006 363346000

Summaries for Cervical Cancer, Somatic

MedlinePlus : 41 the cervix is the lower part of the uterus, the place where a baby grows during pregnancy. cervical cancer is caused by a virus called hpv. the virus spreads through sexual contact. most women's bodies are able to fight hpv infection. but sometimes the virus leads to cancer. you're at higher risk if you smoke, have had many children, use birth control pills for a long time, or have hiv infection. cervical cancer may not cause any symptoms at first. later, you may have pelvic pain or bleeding from the vagina. it usually takes several years for normal cells in the cervix to turn into cancer cells. your health care provider can find abnormal cells by doing a pap test to examine cells from the cervix. you may also have an hpv test. if your results are abnormal, you may need a biopsy or other tests. by getting regular screenings, you can find and treat any problems before they turn into cancer. treatment may include surgery, radiation therapy, chemotherapy, or a combination. the choice of treatment depends on the size of the tumor, whether the cancer has spread and whether you would like to become pregnant someday. vaccines can protect against several types of hpv, including some that can cause cancer. nih: national cancer institute

MalaCards based summary : Cervical Cancer, Somatic, also known as cervical cancer, is related to hepatocellular carcinoma and prostate cancer, and has symptoms including neoplasm, abnormality of the cervical spine and pelvic pain. An important gene associated with Cervical Cancer, Somatic is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are Apoptotic Pathways in Synovial Fibroblasts and ERK Signaling. The drugs Avastin and Cervarix have been mentioned in the context of this disorder. Affiliated tissues include uterus, cervix and testes, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and cellular

Disease Ontology : 12 A female reproductive organ cancer that is located in the cervix.

CDC : 3 Cancer is a disease in which cells in the body grow out of control. Cancer is always named for the part of the body where it starts, even if it spreads to other body parts later.

UniProtKB/Swiss-Prot : 71 Cervical cancer: A malignant neoplasm of the cervix, typically originating from a dysplastic or premalignant lesion previously present at the active squamocolumnar junction. The transformation from mild dysplastic to invasive carcinoma generally occurs slowly within several years, although the rate of this process varies widely. Carcinoma in situ is particularly known to precede invasive cervical cancer in most cases. Cervical cancer is strongly associated with infection by oncogenic types of human papillomavirus.

Description from OMIM: 603956

Related Diseases for Cervical Cancer, Somatic

Diseases related to Cervical Cancer, Somatic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 228)
id Related Disease Score Top Affiliating Genes
1 hepatocellular carcinoma 27.7 BAX BIRC5 CASP3 CASP8 CASP9 CCNB1
2 prostate cancer 27.6 BAX BIRC5 CASP3 CASP8 CASP9 CCNB1
3 lung cancer 26.1 BAX BIRC5 CA9 CADM1 CASP3 CASP8
4 primitive neuroectodermal tumor of the cervix uteri 12.3
5 cervical intraepithelial neoplasia 11.3
6 cervicitis 11.1
7 carcinosarcoma of the cervix uteri 11.1
8 cervix carcinoma 11.1
9 radiation proctitis 11.0
10 cervical adenoid cystic carcinoma 11.0 CDKN2A TP53
11 glycogen storage disease due to lactate dehydrogenase deficiency 10.9 CASP8 TP53
12 larynx carcinoma in situ 10.9 CDKN2A FHIT TP53
13 non-suppurative otitis media 10.9 CDKN2A TP53 UBE3A
14 intrahepatic bile duct adenoma 10.9 FGFR3 TERT TP53
15 schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma 10.9 CDKN2A FHIT TP53
16 nontoxic goiter 10.9 CDKN2A FHIT MYC
17 extrahepatic bile duct adenoma 10.9 FGFR3 TERT TP53
18 villous adenocarcinoma 10.9 CDKN2A MYC TP53
19 acute cholinergic dysautonomia 10.9 CDKN1A TP53
20 angelman syndrome due to imprinting defect in 15q11-q13 10.9 CDKN1A CDKN2A FGFR3
21 lung clear cell-sugar-tumor 10.9 CDKN1A FHIT TP53
22 rhizomelic chondrodysplasia punctata, type 3 10.8 CASP3 TP53
23 integumentary system cancer 10.8 CASP3 CDKN2A TP53
24 duodenum cancer 10.8 CCNB1 CDKN2A TP53
25 oral antidiabetic drugs toxicity or dose selection 10.8 BIRC5 FHIT TP53
26 mediastinum seminoma 10.8 FGFR3 TP53
27 fallopian tube mucinous tumor 10.8 CDKN1A CDKN2A TP53
28 bone ameloblastoma 10.8 CDKN2A RB1
29 gangliosidosis gm1 10.8 MYC RB1
30 fallopian tube leiomyosarcoma 10.8 CDKN2A DAPK1 TP53
31 farber lipogranulomatosis 10.8 CDKN2A FHIT TP53
32 skin amelanotic melanoma 10.8 CDKN1A CDKN2A MMP2
33 childhood type dermatomyositis 10.8 CDKN2A DAPK1 TP53
34 split hand split foot nystagmus 10.8 CDKN2A TP53
35 cystic lymphangioma 10.8 CDKN2A MMP2 TP53
36 fasciolopsiasis 10.8 CDKN2A MMP2 TP53
37 accessory nerve disease 10.8 CDKN2A RB1 TP53
38 medullomyoblastoma 10.8 CASP3 MYC TP53
39 olfactory neuroblastoma 10.8 CADM1 FHIT TP53
40 breast leiomyoma 10.7 CDKN2A FGFR3 TP53
41 prostate cancer, hereditary, x-linked 1 10.7 BAX CDKN1A FGFR3 TP53
42 primary malignant melanoma of the conjunctiva 10.7 CASP3 MYC PARP1
43 bronchiolitis 10.7 BAX CASP3 CASP9
44 dubin-johnson syndrome 10.7 CDKN2A TERT TP53
45 cervix disease 10.7
46 nasopharyngeal carcinoma 10.7 BAX CDKN1A CDKN2A TP53
47 postmenopausal atrophic vaginitis 10.7 CASP3 CASP8 MYC TP53
48 cystadenoma 10.7 CASP3 CASP8 MYC TP53
49 grade iii astrocytoma 10.7 FGFR3 MMP2 RB1 TP53
50 tracheal disease 10.7 CASP3 CDKN2A MMP2 TP53

Comorbidity relations with Cervical Cancer, Somatic via Phenotypic Disease Network (PDN):


Acute Cystitis Deficiency Anemia
Hydronephrosis Intestinal Obstruction
Vaginal Cancer

Graphical network of the top 20 diseases related to Cervical Cancer, Somatic:



Diseases related to Cervical Cancer, Somatic

Symptoms & Phenotypes for Cervical Cancer, Somatic

Clinical features from OMIM:

603956

Human phenotypes related to Cervical Cancer, Somatic:

32
id Description HPO Frequency HPO Source Accession
1 neoplasm 32 HP:0002664
2 abnormality of the cervical spine 32 HP:0003319

UMLS symptoms related to Cervical Cancer, Somatic:


pelvic pain

GenomeRNAi Phenotypes related to Cervical Cancer, Somatic according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.95 TERT CDKN1A TP53 CDKN2A RB1 BAX
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.95 TERT CDKN1A TP53 CDKN2A DAPK1 MYC
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.43 BAX CASP8 CCNB1 CDKN1A PARP1 TP53

MGI Mouse Phenotypes related to Cervical Cancer, Somatic:

44 (show all 23)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.51 BAX BIRC5 CADM1 CASP3 CASP8 CASP9
2 hematopoietic system MP:0005397 10.48 FHIT MMP2 MYC PARP1 RB1 TERT
3 immune system MP:0005387 10.45 BAX BIRC5 CA9 CADM1 CASP3 CASP8
4 growth/size/body region MP:0005378 10.44 FGFR3 MMP2 MYC PARP1 RB1 TERT
5 homeostasis/metabolism MP:0005376 10.44 FGFR3 FHIT MMP2 MYC PARP1 RB1
6 endocrine/exocrine gland MP:0005379 10.42 BAX BIRC5 CA9 CADM1 CASP3 CASP8
7 mortality/aging MP:0010768 10.42 CDKN1A CDKN2A FGFR3 FHIT MMP2 MYC
8 behavior/neurological MP:0005386 10.39 BAX CADM1 CASP3 CDKN1A CDKN2A DAPK1
9 nervous system MP:0003631 10.34 MYC PARP1 RB1 TERT TP53 UBE3A
10 digestive/alimentary MP:0005381 10.29 CA9 CASP3 CDKN1A CDKN2A FGFR3 FHIT
11 integument MP:0010771 10.25 UBE3A CASP3 CASP8 CDKN1A CDKN2A FGFR3
12 embryo MP:0005380 10.24 BIRC5 CASP8 CASP9 CDKN1A CDKN2A MYC
13 craniofacial MP:0005382 10.2 CASP3 CASP9 CDKN1A FGFR3 MMP2 MYC
14 neoplasm MP:0002006 10.2 FGFR3 FHIT MMP2 MYC RB1 TERT
15 hearing/vestibular/ear MP:0005377 10.16 BAX CASP3 CDKN1A FGFR3 MYC PARP1
16 muscle MP:0005369 10.13 CASP3 CASP8 CDKN1A CDKN2A MMP2 MYC
17 no phenotypic analysis MP:0003012 10.06 CASP3 CDKN1A CDKN2A FGFR3 MYC PARP1
18 reproductive system MP:0005389 10.03 BAX CADM1 CASP3 CDKN1A CDKN2A FGFR3
19 renal/urinary system MP:0005367 9.97 BAX CASP3 CASP8 CDKN1A DAPK1 FGFR3
20 respiratory system MP:0005388 9.9 BAX CASP3 CASP8 CASP9 CDKN1A CDKN2A
21 pigmentation MP:0001186 9.77 MYC RB1 TP53 CASP3 CDKN2A
22 skeleton MP:0005390 9.65 BAX CASP3 CDKN1A CDKN2A FGFR3 MMP2
23 vision/eye MP:0005391 9.23 BAX CASP3 CDKN1A CDKN2A FGFR3 MMP2

Drugs & Therapeutics for Cervical Cancer, Somatic

FDA approved drugs:

id Drug Name Active Ingredient(s) 17 Company Approval Date
1
Avastin 17 46 BEVACIZUMAB Genentech July 2009
2
Cervarix 17 46 Human Papillomavirus Bivalent (Types 16 and 18) Vaccine, Recombinant GlaxoSmithKline October 2009
3
Gardasil 17 46 quadrivalent human papillomavirus (types 6, 11, 16, 18) recombinant vaccine Merck June 2006

Drugs for Cervical Cancer, Somatic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 1, Phase 2 41575-94-4 10339178 498142 38904
2
Olaparib Approved Phase 1, Phase 2 763113-22-0 23725625
3 Immunoglobulins Phase 1, Phase 2
4 Poly(ADP-ribose) Polymerase Inhibitors Phase 1, Phase 2
5 Antibodies, Monoclonal Phase 1, Phase 2
6 Antibodies Phase 1, Phase 2
7
Pancrelipase Approved 53608-75-6
8 pancreatin
9 Kava Nutraceutical 9000-38-8

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Ascending Doses of AZD6738 in Combination With Chemotherapy and/or Novel Anti Cancer Agents Recruiting NCT02264678 Phase 1, Phase 2 Administration of AZD6738 in combination with carboplatin;Administration of AZD6738;Administration of AZD6738 in combination with olaparib;Administation of AZD6738 in combination with MEDI4736
2 Community Awareness, Resources and Education (CARE II) Project: Project 1 Completed NCT02797600
3 Prospective Studies on Oral Health and Quality of Life in Head and Neck Cancer Patients Completed NCT02870270
4 Analysis of NF2 Mutations in Radiation-Related Neural Tumors Completed NCT00340496
5 Return to Work and Living Healthy After Head and Neck Cancer Recruiting NCT03065634
6 Lavage of the Uterine Cavity for the Diagnosis of Ovarian and Tubal Carcinoma - Study of Sensitivity and Specificity Recruiting NCT02518256
7 Molecular Testing for the MD Anderson Cancer Center Personalized Cancer Therapy Program Recruiting NCT01772771
8 Exploring the Neuro-Immune Basis of Cancer-Related Fatigue Using Behavioral Measures Active, not recruiting NCT02255773

Search NIH Clinical Center for Cervical Cancer, Somatic

Cochrane evidence based reviews: uterine cervical neoplasms

Genetic Tests for Cervical Cancer, Somatic

Anatomical Context for Cervical Cancer, Somatic

MalaCards organs/tissues related to Cervical Cancer, Somatic:

39
Uterus, Cervix, Testes, Endothelial, T Cells, Breast, Lung

Publications for Cervical Cancer, Somatic

Variations for Cervical Cancer, Somatic

UniProtKB/Swiss-Prot genetic disease variations for Cervical Cancer, Somatic:

71
id Symbol AA change Variation ID SNP ID
1 FGFR3 p.Ser249Cys VAR_004149 rs121913483

ClinVar genetic disease variations for Cervical Cancer, Somatic:

6 (show all 47)
id Gene Variation Type Significance SNP ID Assembly Location
1 PTEN NM_000314.6(PTEN): c.389G> A (p.Arg130Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909229 GRCh37 Chromosome 10, 89692905: 89692905
2 SMAD4 NM_005359.5(SMAD4): c.1081C> T (p.Arg361Cys) single nucleotide variant Pathogenic/Likely pathogenic rs80338963 GRCh37 Chromosome 18, 48591918: 48591918
3 HRAS NM_005343.3(HRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
4 HRAS NM_005343.3(HRAS): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic/Likely pathogenic rs104894230 GRCh37 Chromosome 11, 534288: 534288
5 HRAS NM_005343.3(HRAS): c.37G> T (p.Gly13Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894228 GRCh37 Chromosome 11, 534286: 534286
6 HRAS NM_005343.3(HRAS): c.436G> A (p.Ala146Thr) single nucleotide variant Pathogenic/Likely pathogenic rs104894231 GRCh37 Chromosome 11, 533467: 533467
7 HRAS NM_005343.3(HRAS): c.437C> T (p.Ala146Val) single nucleotide variant Pathogenic/Likely pathogenic rs121917759 GRCh37 Chromosome 11, 533466: 533466
8 HRAS NM_005343.3(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
9 PIK3CA NM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
10 PIK3CA NM_006218.3(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
11 PIK3CA NM_006218.3(PIK3CA): c.1636C> G (p.Gln546Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121913286 GRCh37 Chromosome 3, 178936094: 178936094
12 PIK3CA NM_006218.3(PIK3CA): c.1633G> A (p.Glu545Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104886003 GRCh37 Chromosome 3, 178936091: 178936091
13 PIK3CA NM_006218.3(PIK3CA): c.1634A> G (p.Glu545Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913274 GRCh37 Chromosome 3, 178936092: 178936092
14 PIK3CA NM_006218.3(PIK3CA): c.1636C> A (p.Gln546Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913286 GRCh37 Chromosome 3, 178936094: 178936094
15 PIK3CA NM_006218.3(PIK3CA): c.1634A> C (p.Glu545Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121913274 GRCh37 Chromosome 3, 178936092: 178936092
16 AKT1 NM_005163.2(AKT1): c.49G> A (p.Glu17Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121434592 GRCh37 Chromosome 14, 105246551: 105246551
17 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
18 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421
19 FGFR3 NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913483 GRCh37 Chromosome 4, 1803568: 1803568
20 CTNNB1 NM_001904.3(CTNNB1): c.95A> G (p.Asp32Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913396 GRCh37 Chromosome 3, 41266098: 41266098
21 CTNNB1 NM_001904.3(CTNNB1): c.110C> G (p.Ser37Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh37 Chromosome 3, 41266113: 41266113
22 CTNNB1 NM_001904.3(CTNNB1): c.94G> T (p.Asp32Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs28931588 GRCh37 Chromosome 3, 41266097: 41266097
23 CTNNB1 NM_001904.3(CTNNB1): c.110C> T (p.Ser37Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh37 Chromosome 3, 41266113: 41266113
24 SMAD4 NM_005359.5(SMAD4): c.1081C> G (p.Arg361Gly) single nucleotide variant Pathogenic/Likely pathogenic rs80338963 GRCh37 Chromosome 18, 48591918: 48591918
25 SMAD4 NM_005359.5(SMAD4): c.1082G> A (p.Arg361His) single nucleotide variant Pathogenic/Likely pathogenic rs377767347 GRCh37 Chromosome 18, 48591919: 48591919
26 PIK3CA NM_006218.3(PIK3CA): c.1624G> A (p.Glu542Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913273 GRCh37 Chromosome 3, 178936082: 178936082
27 HRAS NM_005343.3(HRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894228 GRCh37 Chromosome 11, 534286: 534286
28 PIK3CA NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913281 GRCh37 Chromosome 3, 178952084: 178952084
29 PIK3CA NM_006218.3(PIK3CA): c.1637A> G (p.Gln546Arg) single nucleotide variant Pathogenic/Likely pathogenic rs397517201 GRCh37 Chromosome 3, 178936095: 178936095
30 TP53 NM_000546.5(TP53): c.580C> T (p.Leu194Phe) single nucleotide variant Pathogenic/Likely pathogenic rs587780071 GRCh37 Chromosome 17, 7578269: 7578269
31 PIK3CA NM_006218.3(PIK3CA): c.353G> A (p.Gly118Asp) single nucleotide variant Pathogenic/Likely pathogenic rs587777790 GRCh38 Chromosome 3, 179199690: 179199690
32 MTOR NM_004958.3(MTOR): c.6644C> T (p.Ser2215Phe) single nucleotide variant Pathogenic/Likely pathogenic rs587777894 GRCh38 Chromosome 1, 11124516: 11124516
33 HRAS NM_005343.3(HRAS): c.38G> T (p.Gly13Val) single nucleotide variant Pathogenic/Likely pathogenic rs104894226 GRCh38 Chromosome 11, 534285: 534285
34 GNAS NM_000516.5(GNAS): c.602G> T (p.Arg201Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421
35 PIK3CA NM_006218.3(PIK3CA): c.1635G> T (p.Glu545Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121913275 GRCh37 Chromosome 3, 178936093: 178936093
36 CTNNB1 NM_001904.3(CTNNB1): c.110C> A (p.Ser37Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 GRCh37 Chromosome 3, 41266113: 41266113
37 PIK3CA NM_006218.3(PIK3CA): c.1633G> C (p.Glu545Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104886003 GRCh37 Chromosome 3, 178936091: 178936091
38 PIK3CA NM_006218.3(PIK3CA): c.1637A> C (p.Gln546Pro) single nucleotide variant Pathogenic/Likely pathogenic rs397517201 GRCh37 Chromosome 3, 178936095: 178936095
39 PIK3CA NM_006218.3(PIK3CA): c.1637A> T (p.Gln546Leu) single nucleotide variant Pathogenic/Likely pathogenic rs397517201 GRCh37 Chromosome 3, 178936095: 178936095
40 PTEN NM_000314.6(PTEN): c.388C> G (p.Arg130Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121909224 GRCh37 Chromosome 10, 89692904: 89692904
41 ERBB2 NM_004448.3(ERBB2): c.2305G> C (p.Asp769His) single nucleotide variant Pathogenic/Likely pathogenic rs121913468 GRCh38 Chromosome 17, 39724008: 39724008
42 ERBB2 NM_001005862.2(ERBB2): c.2215G> T (p.Asp739Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913468 GRCh37 Chromosome 17, 37880261: 37880261
43 MTOR NM_004958.3(MTOR): c.6644C> A (p.Ser2215Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs587777894 GRCh37 Chromosome 1, 11184573: 11184573
44 PIK3CA NM_006218.3(PIK3CA): c.2176G> A (p.Glu726Lys) single nucleotide variant Pathogenic/Likely pathogenic rs867262025 GRCh37 Chromosome 3, 178938934: 178938934
45 PTEN NM_000314.6(PTEN): c.389G> T (p.Arg130Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121909229 GRCh37 Chromosome 10, 89692905: 89692905
46 TP53 NM_000546.5(TP53): c.713G> T (p.Cys238Phe) single nucleotide variant Pathogenic/Likely pathogenic rs730882005 GRCh37 Chromosome 17, 7577568: 7577568
47 TP53 NM_000546.5(TP53): c.712T> C (p.Cys238Arg) single nucleotide variant Pathogenic/Likely pathogenic rs1057519981 GRCh37 Chromosome 17, 7577569: 7577569

Copy number variations for Cervical Cancer, Somatic from CNVD:

7 (show top 50) (show all 142)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13747 1 1 27800000 Gain EPHB2 Cervical cancer
2 16425 1 124300000 247249719 Arm Cervical cancer
3 30310 1 241700000 247249719 Gain Cervical cancer
4 31746 1 30500000 163800000 Gain AIM2 Cervical cancer
5 32175 1 34400000 39600000 Gain CDCA8 Cervical cancer
6 47124 10 89600000 98000000 Loss PTEN Cervical cancer
7 48645 11 101600000 102400000 Amplification MMP1 Cervical cancer
8 48646 11 101600000 102400000 Amplification MMP13 Cervical cancer
9 51761 11 130300000 134452384 Loss Cervical cancer
10 51791 11 130800000 135006516 Loss HNT Cervical cancer
11 51792 11 130800000 135006516 Loss OPCML Cervical cancer
12 55435 11 52900000 134452384 Loss Cervical cancer
13 57095 11 63100000 130300000 Loss INT2 Cervical cancer
14 57096 11 63100000 130300000 Loss MEN1 Cervical cancer
15 57097 6 99389300 99393387 Loss POUF3 Cervical cancer
16 57098 11 63100000 130300000 Loss TRIM29 Cervical cancer
17 59362 11 74700000 85300000 Gain Cervical cancer
18 77051 13 39500000 52200000 Loss RB Cervical cancer
19 81044 14 100400000 106368585 Gain AKT1 Cervical cancer
20 97280 16 1 40700000 Loss Cervical cancer
21 106741 17 1 11200000 Loss TP53 Cervical cancer
22 108734 17 22200000 28800000 Loss CCL2 Cervical cancer
23 109725 17 28500000 29700000 Amplification Cervical cancer
24 109738 17 28800000 35400000 Amplification ERBB2 Cervical cancer
25 111034 17 34900000 35300000 Amplification Cervical cancer
26 111283 17 35400000 54900000 Amplification ABCC3 Cervical cancer
27 112092 17 37856253 37884915 Amplification ERBB2 Cervical cancer
28 112304 17 38544772 38574202 Amplification TOP2A Cervical cancer
29 117589 17 72900000 78774742 Gain Cervical cancer
30 124103 19 1 30200000 Gain Cervical cancer
31 124104 19 1 30200000 Loss Cervical cancer
32 124177 19 1 6900000 Gain SMARCA4 Cervical cancer
33 124219 19 1 6900000 Gain Cervical cancer
34 124597 19 1156797 1179434 Deletion LKB1 Cervical Cancer
35 124598 19 1156797 1179434 Deletion LKB1 Cervical cancer
36 130163 19 47800000 57600000 Gain LIG1 Cervical cancer
37 134165 19 9500000 14500000 Gain Cervical cancer
38 140388 2 197100000 242951149 Loss CASP10 Cervical cancer
39 140389 2 197100000 242951149 Loss CFLAR Cervical cancer
40 140390 2 197100000 242951149 Loss PPP1R7 Cervical cancer
41 151917 20 27100000 28400000 Amplification AHCY Cervical cancer
42 151918 20 27100000 28400000 Amplification ASXL1 Cervical cancer
43 151919 20 27100000 28400000 Amplification C20orf20 Cervical cancer
44 151920 20 27100000 28400000 Amplification E2F1 Cervical cancer
45 151921 20 27100000 28400000 Amplification GSS Cervical cancer
46 151922 20 27100000 28400000 Amplification KIF3B Cervical cancer
47 151923 20 27100000 28400000 Amplification POFUT1 Cervical cancer
48 151924 20 27100000 28400000 Amplification TPX2 Cervical cancer
49 153446 20 37100000 41100000 Gain AIB1 Cervical cancer
50 153736 20 41100000 49200000 Amplification ADNP Cervical cancer

Expression for Cervical Cancer, Somatic

LifeMap Discovery
Genes differentially expressed in tissues of Cervical Cancer, Somatic patients vs. healthy controls: 35 (show top 50) (show all 70)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1 KRT1 keratin 1, type II Uterus - 5.47 0.000
2 KRTDAP keratinocyte differentiation-associated protein Uterus - 4.96 0.000
3 CTHRC1 collagen triple helix repeat containing 1 Uterus + 4.65 0.000
4 TMPRSS11B transmembrane protease, serine 11B Uterus - 4.58 0.000
5 CDKN2A cyclin-dependent kinase inhibitor 2A Uterus + 4.45 0.000
6 CMPK2 cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial Uterus + 4.32 0.000
7 CRNN cornulin Uterus - 4.25 0.000
8 MAL mal, T-cell differentiation protein Uterus - 4.21 0.000
9 DSG1 desmoglein 1 Uterus - 4.17 0.000
10 ECT2 epithelial cell transforming 2 Uterus + 4.10 0.000
11 SYCP2 synaptonemal complex protein 2 Uterus + 3.95 0.000
12 HS6ST2 heparan sulfate 6-O-sulfotransferase 2 Uterus + 3.94 0.000
13 KIF14 kinesin family member 14 Uterus + 3.88 0.000
14 IFI44 interferon-induced protein 44 Uterus + 3.88 0.000
15 MMP1 matrix metallopeptidase 1 Uterus + 3.83 0.001
16 GREB1 growth regulation by estrogen in breast cancer 1 Uterus - 3.78 0.000
17 KRT17 keratin 17, type I Uterus + 3.71 0.000
18 SPINK7 serine peptidase inhibitor, Kazal type 7 (putative) Uterus - 3.70 0.000
19 NUF2 NUF2, NDC80 kinetochore complex component Uterus + 3.70 0.000
20 NCEH1 neutral cholesterol ester hydrolase 1 Uterus + 3.64 0.000
21 PLSCR1 phospholipid scramblase 1 Uterus + 3.63 0.000
22 E2F7 E2F transcription factor 7 Uterus + 3.62 0.000
23 SLF1 SMC5-SMC6 complex localization factor 1 Uterus + 3.61 0.000
24 INHBA inhibin, beta A Uterus + 3.59 0.001
25 DAPL1 death associated protein-like 1 Uterus - 3.57 0.000
26 KRT4 keratin 4, type II Uterus - 3.53 0.000
27 SMC4 structural maintenance of chromosomes 4 Uterus + 3.50 0.000
28 CEP55 centrosomal protein 55kDa Uterus + 3.49 0.000
29 LOX lysyl oxidase Uterus + 3.48 0.000
30 ANLN anillin actin binding protein Uterus + 3.48 0.000
31 ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) Uterus + 3.46 0.000
32 CRISP3 cysteine-rich secretory protein 3 Uterus - 3.46 0.001
33 HELLS helicase, lymphoid-specific Uterus + 3.44 0.000
34 KRT19 keratin 19, type I Uterus + 3.44 0.002
35 SPP1 secreted phosphoprotein 1 Uterus + 3.43 0.000
36 CNFN cornifelin Uterus - 3.42 0.000
37 EPCAM epithelial cell adhesion molecule Uterus + 3.39 0.000
38 NDC80 NDC80 kinetochore complex component Uterus + 3.35 0.000
39 SCD stearoyl-CoA desaturase (delta-9-desaturase) Uterus + 3.31 0.000
40 CRCT1 cysteine-rich C-terminal 1 Uterus - 3.31 0.002
41 KRT13 keratin 13, type I Uterus - 3.30 0.010
42 CDK1 cyclin-dependent kinase 1 Uterus + 3.30 0.000
43 DDIT4 DNA-damage-inducible transcript 4 Uterus + 3.29 0.000
44 ARMT1 acidic residue methyltransferase 1 Uterus + 3.29 0.000
45 ALOX12 arachidonate 12-lipoxygenase Uterus - 3.28 0.000
46 ATAD2 ATPase family, AAA domain containing 2 Uterus + 3.27 0.000
47 ZIC2 Zic family member 2 Uterus + 3.26 0.000
48 ARHGAP21 Rho GTPase activating protein 21 Uterus + 3.24 0.000
49 LYN LYN proto-oncogene, Src family tyrosine kinase Uterus + 3.24 0.000
50 PPIB peptidylprolyl isomerase B (cyclophilin B) Uterus + 3.23 0.000
Search GEO for disease gene expression data for Cervical Cancer, Somatic.

Pathways for Cervical Cancer, Somatic

Pathways related to Cervical Cancer, Somatic according to GeneCards Suite gene sharing:

(show top 50) (show all 96)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.96 BAX CASP3 CASP8 CASP9 CDKN2A FGFR3
2
Show member pathways
13.94 BAX CASP3 CASP8 CASP9 CDKN1A CDKN2A
3
Show member pathways
13.81 BIRC5 CCNB1 CDKN1A CDKN2A FGFR3 MMP2
4
Show member pathways
13.51 BIRC5 CCNB1 CDKN1A CDKN2A MYC RB1
5
Show member pathways
13.43 BIRC5 CASP3 CDKN1A FGFR3 MMP2 MYC
6
Show member pathways
13.05 BAX BIRC5 CCNB1 CDKN1A CDKN2A TP53
7
Show member pathways
13 BAX CASP3 CASP8 CASP9 DAPK1 PARP1
8
Show member pathways
12.85 BAX BIRC5 CASP3 CASP8 CASP9 CDKN1A
9
Show member pathways
12.84 CASP3 CASP8 CASP9 MMP2 PARP1
10 12.82 CASP3 CASP8 CASP9 FGFR3 MYC TP53
11
Show member pathways
12.8 CASP8 CCNB1 CDKN1A MYC PARP1 RB1
12 12.73 BAX CASP3 CASP8 CASP9 CDKN1A FGFR3
13
Show member pathways
12.71 BAX BIRC5 CASP9 CDKN1A MMP2 MYC
14
Show member pathways
12.69 CCNB1 CDKN1A CDKN2A MYC RB1 TP53
15
Show member pathways
12.65 BAX BIRC5 CASP3 CASP9 CDKN1A CDKN2A
16 12.64 CASP3 CDKN1A CDKN2A FGFR3 MYC TP53
17
Show member pathways
12.61 CASP3 CASP8 CASP9 MYC TP53
18 12.59 CCNB1 CDKN1A CDKN2A RB1 TP53
19
Show member pathways
12.58 BAX CASP3 CASP8 CASP9 FGFR3 TP53
20 12.56 BAX CDKN1A CDKN2A MYC RB1 TERT
21
Show member pathways
12.53 BAX BIRC5 CASP9 CDKN1A MYC TP53
22 12.49 CCNB1 CDKN1A CDKN2A MYC RB1 TP53
23
Show member pathways
12.46 CCNB1 CDKN1A CDKN2A RB1 TP53
24 12.41 CASP3 CDKN1A MMP2 MYC TP53
25
Show member pathways
12.41 BAX CASP3 CASP8 CASP9 CDKN1A RB1
26 12.4 BAX CASP3 CASP8 CDKN1A CDKN2A RB1
27
Show member pathways
12.39 BAX CASP3 CASP8 CASP9 PARP1 RB1
28
Show member pathways
12.39 BAX CASP3 CASP9 CDKN1A FGFR3 MYC
29
Show member pathways
12.38 BAX CASP3 CASP8 CASP9 CCNB1 CDKN1A
30 12.37 CDKN1A MYC RB1 TP53
31 12.37 BAX BIRC5 CASP3 CASP8 CASP9 CDKN1A
32
Show member pathways
12.36 CASP3 CASP8 CASP9 DAPK1
33 12.34 BAX BIRC5 CASP3 CASP8 CASP9 DAPK1
34 12.31 BAX CDKN1A MYC TP53
35 12.31 BAX CASP3 CASP8 CASP9
36
Show member pathways
12.3 CDKN1A CDKN2A MYC RB1
37 12.3 BAX CASP3 CASP8 CASP9 MYC RB1
38
Show member pathways
12.27 BAX CASP3 CASP9 MYC TP53
39 12.25 BAX BIRC5 CASP3 CASP9 CDKN1A MMP2
40 12.21 BAX CCNB1 CDKN1A CDKN2A TP53
41
Show member pathways
12.2 CASP3 CASP8 CASP9 CDKN1A
42 12.2 BAX CCNB1 CDKN1A MMP2 RB1 TP53
43 12.19 CDKN1A CDKN2A MMP2 RB1 TP53 UBE3A
44
Show member pathways
12.18 CASP3 CASP8 CASP9 PARP1 TP53
45
Show member pathways
12.17 BAX CASP3 CASP8 CASP9 TP53
46 12.16 CDKN1A MYC TERT TP53
47 12.13 BAX CDKN1A CDKN2A MYC TP53
48
Show member pathways
12.12 BAX CASP3 CASP8 CASP9
49 12.12 BIRC5 CDKN1A MMP2 MYC TP53
50 12.11 CASP3 MYC RB1 TP53

GO Terms for Cervical Cancer, Somatic

Cellular components related to Cervical Cancer, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein complex GO:0043234 9.72 CASP8 CDKN1A MYC PARP1 TP53
2 nucleolus GO:0005730 9.7 CA9 CDKN1A CDKN2A MYC PARP1 TERT
3 mitochondrion GO:0005739 9.61 BAX CASP8 CASP9 CDKN2A FHIT MMP2
4 nucleus GO:0005634 9.55 BAX BIRC5 CA9 CASP3 CASP9 CCNB1
5 death-inducing signaling complex GO:0031264 9.4 CASP3 CASP8
6 cytoplasm GO:0005737 10.24 BAX BIRC5 CASP3 CASP8 CASP9 CCNB1
7 nucleoplasm GO:0005654 10 BIRC5 CASP3 CASP8 CCNB1 CDKN1A CDKN2A

Biological processes related to Cervical Cancer, Somatic according to GeneCards Suite gene sharing:

(show all 41)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.97 CCNB1 CDKN1A RB1 TERT
2 regulation of cell cycle GO:0051726 9.93 BAX CCNB1 CDKN1A RB1
3 cellular response to hypoxia GO:0071456 9.91 CCNB1 MYC TERT TP53
4 cell cycle arrest GO:0007050 9.91 CDKN1A CDKN2A MYC RB1 TP53
5 G1/S transition of mitotic cell cycle GO:0000082 9.9 CDKN1A CDKN2A MYC RB1
6 cellular response to organic cyclic compound GO:0071407 9.88 CASP3 CASP8 CASP9 CCNB1
7 apoptotic signaling pathway GO:0097190 9.87 BAX CASP3 CASP8 DAPK1
8 Ras protein signal transduction GO:0007265 9.86 CDKN1A CDKN2A RB1 TP53
9 regulation of mitotic cell cycle GO:0007346 9.85 BIRC5 CDKN1A RB1
10 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.85 BAX CCNB1 CDKN1A TP53
11 positive regulation of fibroblast proliferation GO:0048146 9.84 CCNB1 CDKN1A MYC
12 response to UV GO:0009411 9.83 CASP3 CASP9 CDKN1A
13 execution phase of apoptosis GO:0097194 9.82 CASP3 CASP8 CASP9
14 neuron apoptotic process GO:0051402 9.81 BAX CASP3 RB1
15 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.8 BAX CASP3 CASP9
16 negative regulation of fibroblast proliferation GO:0048147 9.8 BAX MYC TP53
17 positive regulation of neuron apoptotic process GO:0043525 9.8 BAX CASP3 CASP9 TP53
18 intrinsic apoptotic signaling pathway by p53 class mediator GO:0072332 9.79 BAX FHIT TP53
19 intrinsic apoptotic signaling pathway GO:0097193 9.79 BAX CDKN1A TP53
20 cellular response to UV GO:0034644 9.78 BAX CASP9 MYC TP53
21 response to X-ray GO:0010165 9.77 CASP3 CDKN1A TP53
22 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.76 CASP3 CDKN1A CDKN2A
23 response to antibiotic GO:0046677 9.71 CASP3 CASP8 CASP9 TP53
24 activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097296 9.68 BAX CASP8
25 positive regulation of macrophage differentiation GO:0045651 9.68 CASP8 RB1
26 response to gamma radiation GO:0010332 9.67 BAX MYC PARP1 TP53
27 signal transduction by p53 class mediator GO:0072331 9.65 CDKN1A TP53
28 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c GO:0008635 9.61 BAX CASP3 CASP9
29 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.55 BAX CASP3 CASP8 CASP9 CDKN2A
30 response to cobalt ion GO:0032025 9.5 CASP3 CASP8 CASP9
31 glial cell apoptotic process GO:0034349 9.43 CASP3 CASP9 RB1
32 apoptotic process GO:0006915 9.4 BAX BIRC5 CADM1 CASP3 CASP8 CASP9
33 replicative senescence GO:0090399 9.26 CDKN1A CDKN2A TERT TP53
34 cell cycle GO:0007049 10.14 BIRC5 CCNB1 CDKN1A CDKN2A RB1 TP53
35 negative regulation of apoptotic process GO:0043066 10.08 BIRC5 CASP3 CDKN1A DAPK1 MYC TERT
36 negative regulation of cell proliferation GO:0008285 10.07 BAX CDKN1A CDKN2A RB1 TP53
37 viral process GO:0016032 10.07 BAX CASP8 RB1 TP53 UBE3A
38 positive regulation of apoptotic process GO:0043065 10.06 BAX CASP3 CASP9 CDKN2A TP53
39 response to drug GO:0042493 10.04 CA9 CASP3 CCNB1 CDKN1A MYC
40 regulation of apoptotic process GO:0042981 10 BAX BIRC5 CASP8 CASP9 DAPK1 TP53
41 cellular response to DNA damage stimulus GO:0006974 10 BAX CASP3 CASP9 CDKN1A MYC PARP1

Molecular functions related to Cervical Cancer, Somatic according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.85 CDKN2A MYC PARP1 RB1 TP53
2 protein kinase binding GO:0019901 9.85 CASP9 CCNB1 CDKN1A CDKN2A PARP1 TP53
3 ubiquitin protein ligase binding GO:0031625 9.83 CASP8 CDKN1A FHIT RB1 TP53
4 protein complex binding GO:0032403 9.81 CASP3 CASP8 CDKN1A MYC
5 identical protein binding GO:0042802 9.76 BAX BIRC5 CASP8 DAPK1 FHIT PARP1
6 cysteine-type endopeptidase activity GO:0004197 9.65 CASP3 CASP8 CASP9
7 chaperone binding GO:0051087 9.62 BAX BIRC5 TERT TP53
8 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.49 CASP3 CASP8
9 disordered domain specific binding GO:0097718 9.4 RB1 TP53
10 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 9.13 CASP3 CASP8 CASP9
11 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 8.8 CASP3 CDKN1A CDKN2A
12 protein binding GO:0005515 10.23 BAX BIRC5 CADM1 CASP3 CASP8 CASP9

Sources for Cervical Cancer, Somatic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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