FANCJ
MCID: FNC025
MIFTS: 52

Fanconi Anemia, Complementation Group J (FANCJ)

Categories: Blood diseases, Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Fanconi Anemia, Complementation Group J

MalaCards integrated aliases for Fanconi Anemia, Complementation Group J:

Name: Fanconi Anemia, Complementation Group J 57 29 13 6 39
Fanconi Anemia Complementation Group J 12 72 15
Fancj 57 12 72

Characteristics:

HPO:

31
fanconi anemia, complementation group j:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111097
OMIM® 57 609054
OMIM Phenotypic Series 57 PS227650
MeSH 44 D005199
MedGen 41 C1836860

Summaries for Fanconi Anemia, Complementation Group J

OMIM® : 57 Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (609054) (Updated 05-Apr-2021)

MalaCards based summary : Fanconi Anemia, Complementation Group J, also known as fanconi anemia complementation group j, is related to hereditary breast ovarian cancer syndrome and bloom syndrome. An important gene associated with Fanconi Anemia, Complementation Group J is BRIP1 (BRCA1 Interacting Helicase 1), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. Affiliated tissues include bone marrow, breast and prostate, and related phenotypes are intrauterine growth retardation and multiple cafe-au-lait spots

Disease Ontology : 12 A Fanconi anemia that has material basis in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22.

UniProtKB/Swiss-Prot : 72 Fanconi anemia complementation group J: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

Related Diseases for Fanconi Anemia, Complementation Group J

Diseases in the Fanconi Anemia, Complementation Group C family:

Fanconi Anemia, Complementation Group D2 Fanconi Anemia, Complementation Group a
Fanconi Anemia, Complementation Group B Fanconi Anemia, Complementation Group E
Fanconi Anemia, Complementation Group F Fanconi Anemia, Complementation Group D1
Fanconi Anemia, Complementation Group I Fanconi Anemia, Complementation Group J
Fanconi Anemia, Complementation Group N Fanconi Anemia, Complementation Group O
Fanconi Anemia, Complementation Group P Fanconi Anemia, Complementation Group G
Fanconi Anemia, Complementation Group L Fanconi Anemia, Complementation Group Q
Fanconi Anemia, Complementation Group T Fanconi Anemia, Complementation Group V
Fanconi Anemia, Complementation Group R Fanconi Anemia, Complementation Group U
Fanconi Anemia, Complementation Group W Fanconi Anemia, Complementation Group S

Diseases related to Fanconi Anemia, Complementation Group J via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 hereditary breast ovarian cancer syndrome 30.4 RAD51C PALB2 FANCM FANCG BRIP1
2 bloom syndrome 30.2 FANCM FANCC FANCA
3 fanconi anemia, complementation group l 30.2 FANCL FANCI FANCD2
4 lynch syndrome 29.8 RAD51C PALB2 H2AC18 ERCC6
5 fanconi anemia, complementation group i 29.7 H2AC18 FANCM FANCL FANCI FANCF FANCD2
6 leukemia, acute myeloid 29.5 RTEL1 H2AC18 FANCC FANCA ERCC6
7 fanconi anemia, complementation group c 29.4 FANCL FANCI FANCF FANCD2 FANCC FANCB
8 fanconi anemia, complementation group d2 29.3 H2AC18 FANCM FANCL FANCI FANCG FANCF
9 deficiency anemia 29.2 H2AC18 FANCM FANCI FANCG FANCF FANCE
10 fanconi anemia, complementation group d1 28.1 SLX4 RAD51C PALB2 H2AC18 FANCM FANCL
11 fanconi anemia, complementation group n 28.0 SLX4 RAD51C PALB2 H2AC18 FANCM FANCL
12 fanconi anemia, complementation group a 27.6 SLX4 RTEL1 RAD51C PIF1 PALB2 H2AC18
13 aplastic anemia 27.5 SLX4 RTEL1 RAD51C PALB2 H2AC18 FANCM
14 maternal uniparental disomy 10.3 SLX4 FANCA
15 maternal uniparental disomy of chromosome 16 10.3 SLX4 FANCA
16 familial ovarian cancer 10.3 RAD51C BRIP1
17 tracheoesophageal fistula with or without esophageal atresia 10.3 PALB2 FANCC BRIP1
18 peritoneum cancer 10.2 RAD51C PALB2 H2AC18
19 peliosis hepatis 10.2 FANCG FANCC FANCA
20 xeroderma pigmentosum, complementation group g 10.2 SLX4 H2AC18 ERCC6
21 interstitial nephritis, karyomegalic 10.2 SLX4 FANCI FANCD2
22 pituitary stalk interruption syndrome 10.2 FANCG FANCD2 FANCA
23 breast cancer 10.2
24 ovarian cancer 10.2
25 tumor predisposition syndrome 10.2
26 cutaneous telangiectasia and cancer syndrome, familial 10.2
27 inherited cancer-predisposing syndrome 10.2
28 xfe progeroid syndrome 10.2 SLX4 ERCC6
29 vacterl with hydrocephalus 10.2 FANCL FANCB
30 vacterl association 10.1 FANCL FANCI FANCB
31 severe combined immunodeficiency with sensitivity to ionizing radiation 10.1 H2AC18 ERCC6
32 vacterl association, x-linked, with or without hydrocephalus 10.1 FANCL FANCB
33 rothmund-thomson syndrome, type 2 10.1 RTEL1 PIF1 ERCC6
34 xeroderma pigmentosum, complementation group d 10.1 RTEL1 H2AC18 ERCC6 DDX11
35 autosomal recessive cerebellar ataxia 10.1 H2AC18 FANCB ERCC6
36 pancytopenia 10.1 H2AC18 FANCG FANCC FANCA
37 sporadic breast cancer 10.1 RAD51C PALB2 FANCF FANCD2
38 xeroderma pigmentosum, complementation group f 10.0 SLX4 FANCM FANCD2 FAAP24 ERCC6
39 nijmegen breakage syndrome 10.0 H2AC18 FANCF FANCD2 FANCB
40 cerebellar disease 10.0 H2AC18 FANCB ERCC6
41 fanconi anemia, complementation group e 9.9 FANCG FANCF FANCE FANCD2 FANCC FANCA
42 fanconi anemia, complementation group f 9.9 FANCG FANCF FANCE FANCD2 FANCC FANCA
43 prostate cancer 9.8
44 retinoblastoma 9.8
45 triiodothyronine receptor auxiliary protein 9.8
46 breast-ovarian cancer, familial 2 9.8
47 gastric cancer 9.8
48 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.8
49 female breast cancer 9.8
50 autosomal recessive disease 9.8

Graphical network of the top 20 diseases related to Fanconi Anemia, Complementation Group J:



Diseases related to Fanconi Anemia, Complementation Group J

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group J

Human phenotypes related to Fanconi Anemia, Complementation Group J:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intrauterine growth retardation 31 very rare (1%) HP:0001511
2 multiple cafe-au-lait spots 31 very rare (1%) HP:0007565
3 microphthalmia 31 very rare (1%) HP:0000568
4 short thumb 31 very rare (1%) HP:0009778
5 global developmental delay 31 HP:0001263
6 postnatal growth retardation 31 HP:0008897
7 bone marrow hypocellularity 31 HP:0005528
8 chromosomal breakage induced by crosslinking agents 31 HP:0003221

Clinical features from OMIM®:

609054 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group J according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.64 ERCC6 FANCA FANCD2 PALB2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.64 BRIP1 ERCC6 FANCA FANCD2 FANCM PALB2
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.64 ERCC6 FAAP24 FANCA FANCC FANCD2 FANCE

MGI Mouse Phenotypes related to Fanconi Anemia, Complementation Group J:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.16 BRIP1 DDX11 ERCC6 FANCA FANCB FANCC
2 endocrine/exocrine gland MP:0005379 9.93 BRIP1 FANCA FANCB FANCC FANCD2 FANCE
3 neoplasm MP:0002006 9.56 BRIP1 ERCC6 FANCA FANCD2 FANCF FANCM
4 reproductive system MP:0005389 9.4 BRIP1 FANCA FANCB FANCC FANCD2 FANCE

Drugs & Therapeutics for Fanconi Anemia, Complementation Group J

Search Clinical Trials , NIH Clinical Center for Fanconi Anemia, Complementation Group J

Genetic Tests for Fanconi Anemia, Complementation Group J

Genetic tests related to Fanconi Anemia, Complementation Group J:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group J 29 BRIP1

Anatomical Context for Fanconi Anemia, Complementation Group J

MalaCards organs/tissues related to Fanconi Anemia, Complementation Group J:

40
Bone Marrow, Breast, Prostate, Bone, Colon, Myeloid

Publications for Fanconi Anemia, Complementation Group J

Articles related to Fanconi Anemia, Complementation Group J:

(show top 50) (show all 238)
# Title Authors PMID Year
1
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. 6 57 61
16116423 2005
2
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 57 6
16116424 2005
3
The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer. 61 6
27165003 2016
4
Mutational analysis of FANCJ helicase. 61 6
27107905 2016
5
FANCJ is essential to maintain microsatellite structure genome-wide during replication stress. 6 61
27179029 2016
6
Insight into the roles of helicase motif Ia by characterizing Fanconi anemia group J protein (FANCJ) patient mutations. 61 6
24573678 2014
7
Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 6 61
23613520 2013
8
FANCJ/BACH1 acetylation at lysine 1249 regulates the DNA damage response. 61 6
22792074 2012
9
Mutations in BRIP1 confer high risk of ovarian cancer. 6 61
21964575 2011
10
Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1. 6 61
21345144 2011
11
Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control. 61 6
21127055 2011
12
Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes. 61 6
20639400 2010
13
BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control. 61 6
20159562 2010
14
Welcome the family of FANCJ-like helicases to the block of genome stability maintenance proteins. 6 61
19099189 2009
15
A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer. 6 61
19127258 2009
16
A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function. 6 61
18628483 2008
17
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. 6 61
17033622 2006
18
The DNA repair helicases XPD and FancJ have essential iron-sulfur domains. 6 61
16973432 2006
19
BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ. 6 61
16153896 2005
20
Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes. 57 61
14630800 2004
21
Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer. 6
29961768 2019
22
Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer. 6
29752822 2019
23
Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations. 6
29470806 2018
24
Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2. 6
29020732 2018
25
Rare germline mutations in African American men diagnosed with early-onset prostate cancer. 6
29356034 2018
26
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer. 6
29368626 2018
27
Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition. 6
30256826 2018
28
Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53. 6
28486781 2017
29
Integrative clinical genomics of metastatic cancer. 6
28783718 2017
30
Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer. 6
28423363 2017
31
Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes. 6
28495237 2017
32
The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels. 6
28961279 2017
33
Fanconi anemia in 55-year-old identical twins first presenting as fatal post-chemotherapy pancytopenia. 6
27427815 2016
34
Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort. 6
27443514 2016
35
Improving performance of multigene panels for genomic analysis of cancer predisposition. 6
26845104 2016
36
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. 6
26822949 2016
37
Monogenic and polygenic determinants of sarcoma risk: an international genetic study. 6
27498913 2016
38
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 6
26681312 2016
39
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 6
27433846 2016
40
Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India. 6
26911350 2016
41
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. 6
26921362 2016
42
Understanding the Significance of Mutations in Tumor Suppressor Genes Identified Using Next-Generation Sequencing: A Case Report. 6
27462233 2016
43
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 6
27153395 2016
44
Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care. 6
26786923 2016
45
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. 6
26976419 2016
46
Inherited Mutations in Women With Ovarian Carcinoma. 6
26720728 2016
47
Genetic testing in a cohort of young patients with HER2-amplified breast cancer. 6
26681682 2016
48
Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer. 6
26824983 2016
49
Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA. 6
26556299 2016
50
Germline Variants of Prostate Cancer in Japanese Families. 6
27701467 2016

Variations for Fanconi Anemia, Complementation Group J

ClinVar genetic disease variations for Fanconi Anemia, Complementation Group J:

6 (show top 50) (show all 2242)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BRIP1 NM_032043.2(BRIP1):c.1045G>C (p.Ala349Pro) SNV Pathogenic 30535 rs149364097 GRCh37: 17:59878709-59878709
GRCh38: 17:61801348-61801348
2 BRIP1 NM_032043.2(BRIP1):c.1383T>G (p.Tyr461Ter) SNV Pathogenic 216130 rs587780875 GRCh37: 17:59871048-59871048
GRCh38: 17:61793687-61793687
3 BRIP1 NM_032043.2(BRIP1):c.133G>T (p.Glu45Ter) SNV Pathogenic 140808 rs587781292 GRCh37: 17:59937229-59937229
GRCh38: 17:61859868-61859868
4 BRIP1 NM_032043.3(BRIP1):c.286_289ACAA[1] (p.Asn97fs) Microsatellite Pathogenic 187379 rs763009188 GRCh37: 17:59934505-59934508
GRCh38: 17:61857144-61857147
5 BRIP1 NM_032043.2(BRIP1):c.1236del (p.Val413fs) Deletion Pathogenic 216128 rs863224525 GRCh37: 17:59876565-59876565
GRCh38: 17:61799204-61799204
6 BRIP1 NM_032043.2(BRIP1):c.2108delinsTCC (p.Lys703fs) Indel Pathogenic 186992 rs786203384 GRCh37: 17:59821942-59821942
GRCh38: 17:61744581-61744581
7 BRIP1 NM_032043.2(BRIP1):c.2114_2118del (p.Lys705fs) Deletion Pathogenic 220629 rs864622611 GRCh37: 17:59821932-59821936
GRCh38: 17:61744571-61744575
8 BRIP1 NM_032043.2(BRIP1):c.2492+2dup Duplication Pathogenic 128174 rs587780240 GRCh37: 17:59793309-59793310
GRCh38: 17:61715948-61715949
9 BRIP1 NM_032043.3(BRIP1):c.2400C>G SNV Pathogenic 142343 rs574552037 GRCh37: 17:59793404-59793404
GRCh38: 17:61716043-61716043
10 BRIP1 NM_032043.2(BRIP1):c.2479C>T (p.Gln827Ter) SNV Pathogenic 241641 rs786203898 GRCh37: 17:59793325-59793325
GRCh38: 17:61715964-61715964
11 BRIP1 NM_032043.2(BRIP1):c.2138T>G (p.Leu713Ter) SNV Pathogenic 241638 rs878855145 GRCh37: 17:59821912-59821912
GRCh38: 17:61744551-61744551
12 BRIP1 NM_032043.2(BRIP1):c.1204_1205insTGTG Microsatellite Pathogenic 182369 rs730881647 GRCh37: 17:59876596-59876597
GRCh38: 17:61799235-61799236
13 BRIP1 NM_032043.3(BRIP1):c.2684_2687del Deletion Pathogenic 241642 rs760551339 GRCh37: 17:59763415-59763418
GRCh38: 17:61686054-61686057
14 BRIP1 NM_032043.2(BRIP1):c.1697_1698insTATATCAAATTGATATTTCAACAAC (p.Lys567_Asn568insIleSerAsnTer) Insertion Pathogenic 241628 rs878855140 GRCh37: 17:59858297-59858298
GRCh38: 17:61780936-61780937
15 BRIP1 NM_032043.3(BRIP1):c.2982_2985CAAA[4] (p.Lys998fs) Microsatellite Pathogenic 241647 rs771028677 GRCh37: 17:59761413-59761414
GRCh38: 17:61684052-61684053
16 BRIP1 NM_032043.2(BRIP1):c.1018_1019insCT (p.Leu340fs) Insertion Pathogenic 241621 rs878855134 GRCh37: 17:59878735-59878736
GRCh38: 17:61801374-61801375
17 BRIP1 NM_032043.2(BRIP1):c.94-7_178dup Duplication Pathogenic 407793 rs1555618396 GRCh37: 17:59937183-59937184
GRCh38: 17:61859822-61859823
18 BRIP1 NM_032043.2(BRIP1):c.2992_2995del (p.Lys998fs) Deletion Pathogenic 187416 rs786203717 GRCh37: 17:59761412-59761415
GRCh38: 17:61684051-61684054
19 BRIP1 NM_032043.2(BRIP1):c.270C>A (p.Cys90Ter) SNV Pathogenic 407808 rs1060501740 GRCh37: 17:59934528-59934528
GRCh38: 17:61857167-61857167
20 BRIP1 NC_000017.11:g.(?_61847101)_(61849256_?)del Deletion Pathogenic 417413 GRCh37: 17:59924462-59926617
GRCh38: 17:61847101-61849256
21 BRIP1 NM_032043.2(BRIP1):c.632del (p.Pro211fs) Deletion Pathogenic 407873 rs1060501779 GRCh37: 17:59886114-59886114
GRCh38: 17:61808753-61808753
22 BRIP1 NM_032043.2(BRIP1):c.1510del (p.Ile504fs) Deletion Pathogenic 407794 rs775735278 GRCh37: 17:59861749-59861749
GRCh38: 17:61784388-61784388
23 BRIP1 NM_032043.2(BRIP1):c.2786_2789dup (p.Pro931fs) Duplication Pathogenic 407839 rs1295703239 GRCh37: 17:59763312-59763313
GRCh38: 17:61685951-61685952
24 BRIP1 NM_032043.2(BRIP1):c.68dup (p.Ser24fs) Duplication Pathogenic 407789 rs1555618716 GRCh37: 17:59938832-59938833
GRCh38: 17:61861471-61861472
25 BRIP1 NM_032043.3(BRIP1):c.2039_2040insTT Duplication Pathogenic 128166 rs587778134 GRCh37: 17:59853819-59853820
GRCh38: 17:61776458-61776459
26 BRIP1 NM_032043.2(BRIP1):c.2732dup (p.Thr912fs) Duplication Pathogenic 407818 rs752780954 GRCh37: 17:59763369-59763370
GRCh38: 17:61686008-61686009
27 BRIP1 NM_032043.2(BRIP1):c.2947dup (p.Ile983fs) Duplication Pathogenic 407863 rs774684620 GRCh37: 17:59761459-59761460
GRCh38: 17:61684098-61684099
28 BRIP1 NM_032043.2(BRIP1):c.548del (p.Leu183fs) Deletion Pathogenic 407872 rs1060501778 GRCh37: 17:59924541-59924541
GRCh38: 17:61847180-61847180
29 BRIP1 NM_032043.2(BRIP1):c.1372G>T (p.Glu458Ter) SNV Pathogenic 128156 rs587780228 GRCh37: 17:59871059-59871059
GRCh38: 17:61793698-61793698
30 BRIP1 NM_032043.2(BRIP1):c.1495C>T (p.Gln499Ter) SNV Pathogenic 407807 rs1060501739 GRCh37: 17:59861764-59861764
GRCh38: 17:61784403-61784403
31 BRIP1 NM_032043.2(BRIP1):c.2398_2400delinsATTTG (p.Tyr800fs) Indel Pathogenic 461042 rs1555580957 GRCh37: 17:59793404-59793406
GRCh38: 17:61716043-61716045
32 BRIP1 NM_032043.2(BRIP1):c.2947del (p.Ile983fs) Deletion Pathogenic 461044 rs774684620 GRCh37: 17:59761460-59761460
GRCh38: 17:61684099-61684099
33 BRIP1 NM_032043.2(BRIP1):c.840del (p.His281fs) Deletion Pathogenic 461050 rs1555609191 GRCh37: 17:59885906-59885906
GRCh38: 17:61808545-61808545
34 BRIP1 NM_032043.2(BRIP1):c.477_481delAAGAA Microsatellite Pathogenic 461047 rs1555616143 GRCh37: 17:59926516-59926520
GRCh38: 17:61849155-61849159
35 BRIP1 NM_032043.2(BRIP1):c.2218del (p.Gln740fs) Deletion Pathogenic 461041 rs1555591365 GRCh37: 17:59821832-59821832
GRCh38: 17:61744471-61744471
36 BRIP1 NM_032043.2(BRIP1):c.141del (p.Thr48fs) Deletion Pathogenic 141861 rs587782065 GRCh37: 17:59937221-59937221
GRCh38: 17:61859860-61859860
37 BRIP1 NM_032043.2(BRIP1):c.1970del (p.Gly657fs) Deletion Pathogenic 461039 rs760782298 GRCh37: 17:59853889-59853889
GRCh38: 17:61776528-61776528
38 BRIP1 NM_032043.2(BRIP1):c.1510dup (p.Ile504fs) Duplication Pathogenic 230237 rs775735278 GRCh37: 17:59861748-59861749
GRCh38: 17:61784387-61784388
39 BRIP1 NM_032043.2(BRIP1):c.200_201dup (p.Ser68fs) Duplication Pathogenic 461040 rs1555618374 GRCh37: 17:59937160-59937161
GRCh38: 17:61859799-61859800
40 BRIP1 NM_032043.2(BRIP1):c.777dup (p.Thr260fs) Duplication Pathogenic 461049 rs1555609254 GRCh37: 17:59885968-59885969
GRCh38: 17:61808607-61808608
41 BRIP1 NM_032043.2(BRIP1):c.1853_1854insG (p.Pro619fs) Insertion Pathogenic 141753 rs587781985 GRCh37: 17:59857703-59857704
GRCh38: 17:61780342-61780343
42 BRIP1 NM_032043.3(BRIP1):c.1124_1125CA[1] (p.Gln376fs) Microsatellite Pathogenic 128151 rs587780224 GRCh37: 17:59878627-59878628
GRCh38: 17:61801266-61801267
43 BRIP1 NM_032043.3(BRIP1):c.2400C>G SNV Pathogenic 142343 rs574552037 GRCh37: 17:59793404-59793404
GRCh38: 17:61716043-61716043
44 BRIP1 NM_032043.2(BRIP1):c.103G>T (p.Gly35Ter) SNV Pathogenic 530296 rs373104267 GRCh37: 17:59937259-59937259
GRCh38: 17:61859898-61859898
45 BRIP1 NM_032043.2(BRIP1):c.2517G>A (p.Trp839Ter) SNV Pathogenic 530297 rs1555574803 GRCh37: 17:59770849-59770849
GRCh38: 17:61693488-61693488
46 BRIP1 NM_032043.2(BRIP1):c.2786_2789del (p.Leu929fs) Deletion Pathogenic 530300 rs1295703239 GRCh37: 17:59763313-59763316
GRCh38: 17:61685952-61685955
47 BRIP1 NM_032043.2(BRIP1):c.1594dup (p.Met532fs) Duplication Pathogenic 530301 rs1339743866 GRCh37: 17:59861664-59861665
GRCh38: 17:61784303-61784304
48 BRIP1 NM_032043.2(BRIP1):c.448G>T (p.Glu150Ter) SNV Pathogenic 530302 rs762701532 GRCh37: 17:59926549-59926549
GRCh38: 17:61849188-61849188
49 BRIP1 NM_032043.2(BRIP1):c.394dup (p.Thr132fs) Duplication Pathogenic 140984 rs587781416 GRCh37: 17:59926602-59926603
GRCh38: 17:61849241-61849242
50 BRIP1 NM_032043.2(BRIP1):c.2223_2225dup (p.Tyr742Ter) Duplication Pathogenic 530323 rs1310861578 GRCh37: 17:59821824-59821825
GRCh38: 17:61744463-61744464

UniProtKB/Swiss-Prot genetic disease variations for Fanconi Anemia, Complementation Group J:

72
# Symbol AA change Variation ID SNP ID
1 BRIP1 p.Gln255His VAR_023700
2 BRIP1 p.Ala349Pro VAR_023702 rs149364097
3 BRIP1 p.Trp647Cys VAR_023703 rs786202760
4 BRIP1 p.Arg707Cys VAR_023704 rs764803896

Expression for Fanconi Anemia, Complementation Group J

Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group J.

Pathways for Fanconi Anemia, Complementation Group J

Pathways related to Fanconi Anemia, Complementation Group J according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.55 SLX4 RTEL1 RAD51C PALB2 FANCM FANCL
2
Show member pathways
12.47 FANCG FANCF FANCE FANCD2 FANCC FANCA
3 12.23 FANCD2 FANCB FANCA BRIP1
4
Show member pathways
12.1 SLX4 RTEL1 RAD51C PALB2 BRIP1
5
Show member pathways
11.94 SLX4 RTEL1 RAD51C PALB2 BRIP1
6 11.8 SLX4 RAD51C PALB2 FANCM FANCL FANCI
7
Show member pathways
11.72 FANCL FANCG FANCF FANCE FANCD2 FANCC
8 11.16 FANCL FANCG FANCF FANCE FANCD2 FANCC
9 10.55 RTEL1 BRIP1

GO Terms for Fanconi Anemia, Complementation Group J

Cellular components related to Fanconi Anemia, Complementation Group J according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.16 SLX4 RTEL1 RAD51C PIF1 PALB2 H2AC18
2 nucleoplasm GO:0005654 9.91 SLX4 RTEL1 RAD51C PALB2 FANCM FANCL
3 Fanconi anaemia nuclear complex GO:0043240 9.28 FANCM FANCL FANCG FANCF FANCE FANCC
4 Holliday junction resolvase complex GO:0048476 9.26 SLX4 RAD51C

Biological processes related to Fanconi Anemia, Complementation Group J according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 interstrand cross-link repair GO:0036297 9.93 SLX4 FANCM FANCL FANCI FANCG FANCF
2 cellular response to DNA damage stimulus GO:0006974 9.93 SLX4 RTEL1 RAD51C PIF1 PALB2 FANCM
3 DNA replication GO:0006260 9.77 SLX4 RTEL1 PIF1 DDX11 BRIP1
4 DNA duplex unwinding GO:0032508 9.73 RTEL1 PIF1 FANCM ERCC6 DDX11 BRIP1
5 DNA recombination GO:0006310 9.72 SLX4 RTEL1 RAD51C PIF1 PALB2
6 double-strand break repair via homologous recombination GO:0000724 9.7 SLX4 RAD51C PALB2
7 nucleobase-containing compound metabolic process GO:0006139 9.67 RTEL1 DDX11 BRIP1
8 nucleotide-excision repair GO:0006289 9.65 SLX4 FANCC BRIP1
9 replication fork processing GO:0031297 9.61 RTEL1 FANCM DDX11
10 DNA repair GO:0006281 9.6 SLX4 RTEL1 RAD51C PIF1 PALB2 FANCM
11 brain morphogenesis GO:0048854 9.58 FANCD2 FANCC
12 gamete generation GO:0007276 9.58 FANCL FANCD2 FANCC
13 neuronal stem cell population maintenance GO:0097150 9.57 FANCD2 FANCC
14 resolution of meiotic recombination intermediates GO:0000712 9.56 SLX4 FANCM
15 regulation of regulatory T cell differentiation GO:0045589 9.55 FANCD2 FANCA
16 positive regulation of double-strand break repair via homologous recombination GO:1905168 9.54 FANCB ERCC6
17 double-strand break repair involved in meiotic recombination GO:1990918 9.51 FANCD2 BRIP1
18 regulation of CD40 signaling pathway GO:2000348 9.46 FANCD2 FANCA

Molecular functions related to Fanconi Anemia, Complementation Group J according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 10.07 RTEL1 RAD51C PIF1 FANCM ERCC6 DDX11
2 DNA binding GO:0003677 9.93 SLX4 RTEL1 RAD51C PIF1 PALB2 H2AC18
3 chromatin binding GO:0003682 9.88 FANCM FAAP24 ERCC6 DDX11 BRIP1
4 iron-sulfur cluster binding GO:0051536 9.63 RTEL1 DDX11 BRIP1
5 4 iron, 4 sulfur cluster binding GO:0051539 9.58 RTEL1 DDX11 BRIP1
6 DNA-dependent ATPase activity GO:0008094 9.54 RAD51C ERCC6 DDX11
7 four-way junction DNA binding GO:0000400 9.51 RAD51C FANCM
8 DNA polymerase binding GO:0070182 9.5 RTEL1 FANCI FANCD2
9 G-quadruplex DNA binding GO:0051880 9.49 PIF1 DDX11
10 crossover junction endodeoxyribonuclease activity GO:0008821 9.43 SLX4 RAD51C
11 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.43 RTEL1 DDX11 BRIP1
12 DNA helicase activity GO:0003678 9.35 RTEL1 PIF1 ERCC6 DDX11 BRIP1
13 helicase activity GO:0004386 9.1 RTEL1 PIF1 FANCM ERCC6 DDX11 BRIP1

Sources for Fanconi Anemia, Complementation Group J

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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