FANCJ
MCID: FNC025
MIFTS: 43

Fanconi Anemia, Complementation Group J (FANCJ)

Categories: Blood diseases, Bone 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 58 30 13 6 41
Fanconi Anemia Complementation Group J 12 76 15
Fancj 58 12 76

Characteristics:

HPO:

33
fanconi anemia, complementation group j:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111097
OMIM 58 609054
MeSH 45 D005199
MedGen 43 C1836860

Summaries for Fanconi Anemia, Complementation Group J

OMIM : 58 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)

MalaCards based summary : Fanconi Anemia, Complementation Group J, also known as fanconi anemia complementation group j, is related to fanconi anemia, complementation group d2 and fanconi anemia, complementation group i. An important gene associated with Fanconi Anemia, Complementation Group J is BRIP1 (BRCA1 Interacting Protein C-Terminal Helicase 1), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Regulation of TP53 Activity. Affiliated tissues include bone, bone marrow and breast, and related phenotypes are intrauterine growth retardation and microphthalmia

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 : 76 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 a family:

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 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 all 28)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group d2 30.4 FANCA FANCD2
2 fanconi anemia, complementation group i 30.2 FANCD2 FANCI
3 fanconi anemia, complementation group a 27.1 BRIP1 DDX11 FANCA FANCB FANCC FANCD2
4 fanconi anemia, complementation group p 10.0 FANCA FANCM
5 breast cancer 10.0
6 colorectal cancer 10.0
7 bloom syndrome 10.0
8 gastric cancer 10.0
9 wrinkles 10.0
10 fanconi anemia, complementation group v 10.0 FANCA FANCD2
11 fanconi anemia, complementation group o 10.0 FANCD2 FANCI FANCM
12 baller-gerold syndrome 9.9 DDX11 FANCB
13 tracheoesophageal fistula with or without esophageal atresia 9.9 FANCC PALB2
14 isolated tracheoesophageal fistula 9.9 FANCC PALB2
15 fanconi anemia, complementation group l 9.9 FANCD2 FANCL
16 fanconi anemia, complementation group d1 9.8 FANCA FANCC FANCD2
17 fanconi anemia, complementation group f 9.8 FANCA FANCC FANCD2
18 deficiency anemia 9.8 FANCA FANCC FANCD2
19 hereditary breast ovarian cancer syndrome 9.7 BRIP1 PALB2
20 fanconi anemia, complementation group n 9.7 BRIP1 FANCI FANCM PALB2
21 fanconi anemia, complementation group e 9.6 FANCA FANCC FANCD2 FANCI
22 fanconi anemia, complementation group r 9.5 FANCD2 FANCI FANCL FANCM
23 tracheoesophageal fistula 9.5 BRIP1 FANCA FANCC PALB2
24 squamous cell carcinoma, head and neck 9.4 FANCA FANCC FANCL
25 fanconi anemia, complementation group q 9.2 FANCA FANCD2 FANCI FANCL FANCM
26 fanconi anemia, complementation group t 9.2 FANCA FANCD2 FANCI FANCL FANCM
27 fanconi anemia, complementation group b 9.1 FANCA FANCB FANCC FANCD2 FANCL
28 congenital hypoplastic anemia 8.7 BRIP1 FANCA FANCC FANCD2 FANCI FANCL

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:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intrauterine growth retardation 33 very rare (1%) HP:0001511
2 microphthalmia 33 very rare (1%) HP:0000568
3 multiple cafe-au-lait spots 33 very rare (1%) HP:0007565
4 short thumb 33 very rare (1%) HP:0009778
5 global developmental delay 33 HP:0001263
6 bone marrow hypocellularity 33 HP:0005528
7 postnatal growth retardation 33 HP:0008897
8 chromosomal breakage induced by crosslinking agents 33 HP:0003221

Clinical features from OMIM:

609054

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased ionizing radiation sensitivity GR00232-A-1 9.65 BRIP1 FANCA FANCB FANCD2 FANCI
2 Increased gamma-H2AX phosphorylation GR00053-A 9.63 BRIP1 FANCA FANCC FANCI FANCM PALB2
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.56 BRIP1 FANCA FANCC FANCD2 FANCI FANCL
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.28 FANCA FANCD2 FANCM PALB2
5 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.28 BRIP1 FANCA FANCD2 FANCM PALB2

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 BRIP1 DDX11 FANCA FANCB FANCC FANCD2
2 endocrine/exocrine gland MP:0005379 9.7 BRIP1 FANCA FANCB FANCC FANCD2 FANCL
3 neoplasm MP:0002006 9.35 BRIP1 FANCA FANCD2 FANCM PALB2
4 reproductive system MP:0005389 9.17 BRIP1 FANCA FANCB FANCC FANCD2 FANCL

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 30 BRIP1

Anatomical Context for Fanconi Anemia, Complementation Group J

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

42
Bone, Bone Marrow, Breast, Prostate, Colon, Skin

Publications for Fanconi Anemia, Complementation Group J

Articles related to Fanconi Anemia, Complementation Group J:

(show top 50) (show all 69)
# Title Authors Year
1
A minimal threshold of FANCJ helicase activity is required for its response to replication stress or double-strand break repair. ( 29788478 )
2018
2
BLM's balancing act and the involvement of FANCJ in DNA repair. ( 30209988 )
2018
3
Opposing Roles of FANCJ and HLTF Protect Forks and Restrain Replication during Stress. ( 30232006 )
2018
4
BRIP1/FANCJ Mutation Analysis in a Family with History of Male and Female Breast Cancer in India. ( 28382101 )
2017
5
Hematopoietic stem cell transplantation in FANCJ/BRIP1 fanconi anemia. ( 27869810 )
2017
6
FANCJ is essential to maintain microsatellite structure genome-wide during replication stress. ( 27794046 )
2017
7
FANCJ helicase controls the balance between short- and long-tract gene conversions between sister chromatids. ( 28911102 )
2017
8
Getting Ready for the Dance: FANCJ Irons Out DNA Wrinkles. ( 27376332 )
2016
9
FancJ (Brip1) loss-of-function allele results in spermatogonial cell depletion during embryogenesis and altered processing of crossover sites during meiotic prophase I in mice. ( 26490168 )
2016
10
FANCJ at the FORK. ( 26926912 )
2016
11
Mutational analysis of FANCJ helicase. ( 27107905 )
2016
12
FANCJ is essential to maintain microsatellite structure genome-wide during replication stress. ( 27179029 )
2016
13
G-quadruplex recognition and remodeling by the FANCJ helicase. ( 27342280 )
2016
14
HP1 regulates the localization of FANCJ at sites of DNA double-strand breaks. ( 27399284 )
2016
15
FANCD2, FANCJ and BRCA2 cooperate to promote replication fork recovery independently of the Fanconi Anemia core complex. ( 25659033 )
2015
16
FANCJ protein is important for the stability of FANCD2/FANCI proteins and protects them from proteasome and caspase-3 dependent degradation. ( 26336824 )
2015
17
FANCJ suppresses microsatellite instability and lymphomagenesis independent of the Fanconi anemia pathway. ( 26637282 )
2015
18
Spectrum of variations in dog-1/FANCJ and mdf-1/MAD1 defective Caenorhabditis elegans strains after long-term propagation. ( 25880765 )
2015
19
hMSH5 Facilitates the Repair of Camptothecin-induced Double-strand Breaks through an Interaction with FANCJ. ( 26055704 )
2015
20
The Fanconi anemia proteins FANCD2 and FANCJ interact and regulate each other's chromatin localization. ( 25070891 )
2014
21
Insight into the roles of helicase motif Ia by characterizing Fanconi anemia group J protein (FANCJ) patient mutations. ( 24573678 )
2014
22
Molecular and cellular functions of the FANCJ DNA helicase defective in cancer and in Fanconi anemia. ( 25374583 )
2014
23
FANCJ localization by mismatch repair is vital to maintain genomic integrity after UV irradiation. ( 24351291 )
2014
24
FANCJ promotes DNA synthesis through G-quadruplex structures. ( 25193968 )
2014
25
BRCA1 and FancJ cooperatively promote interstrand crosslinker induced centrosome amplification through the activation of polo-like kinase 1. ( 25483079 )
2014
26
Decreased FANCJ caused by 5FU contributes to the increased sensitivity to oxaliplatin in gastric cancer cells. ( 22968820 )
2013
27
FANCJ couples replication past natural fork barriers with maintenance of chromatin structure. ( 23530069 )
2013
28
FancJ regulates interstrand crosslinker induced centrosome amplification through the activation of polo-like kinase 1. ( 24167712 )
2013
29
NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. ( 23188549 )
2013
30
Fanconi anemia and Bloom's syndrome crosstalk through FANCJ-BLM helicase interaction. ( 22024395 )
2012
31
The Q motif of Fanconi anemia group J protein (FANCJ) DNA helicase regulates its dimerization, DNA binding, and DNA repair function. ( 22582397 )
2012
32
FANCJ coordinates two pathways that maintain epigenetic stability at G-quadruplex DNA. ( 22021381 )
2012
33
FANCJ expression predicts the response to 5-fluorouracil-based chemotherapy in MLH1-proficient colorectal cancer. ( 22526901 )
2012
34
FANCJ/BACH1 acetylation at lysine 1249 regulates the DNA damage response. ( 22792074 )
2012
35
CtIP- and ATR-dependent FANCJ phosphorylation in response to DNA strand breaks mediated by DNA replication. ( 23157317 )
2012
36
Screening for ovarian cancer: U.S. Preventive Services Task Force reaffirmation recommendation statement. ( 22964825 )
2012
37
Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control. ( 21127055 )
2011
38
Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1. ( 21345144 )
2011
39
FancJ/Brip1 helicase protects against genomic losses and gains in vertebrate cells. ( 21605288 )
2011
40
FANCJ/BRIP1 recruitment and regulation of FANCD2 in DNA damage responses. ( 20676667 )
2010
41
Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes. ( 20639400 )
2010
42
FANCJ: solving problems in DNA replication. ( 20122882 )
2010
43
BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control. ( 20159562 )
2010
44
Targeting the FANCJ-BRCA1 interaction promotes a switch from recombination to poleta-dependent bypass. ( 20173781 )
2010
45
Assessing the link between BACH1/FANCJ and MLH1 in DNA crosslink repair. ( 20658644 )
2010
46
An MLH1 mutation links BACH1/FANCJ to colon cancer, signaling, and insight toward directed therapy. ( 20978114 )
2010
47
FANCJ helicase operates in the Fanconi Anemia DNA repair pathway and the response to replicational stress. ( 19519404 )
2009
48
Welcome the family of FANCJ-like helicases to the block of genome stability maintenance proteins. ( 19099189 )
2009
49
A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer. ( 19127258 )
2009
50
FANCJ uses its motor ATPase to destabilize protein-DNA complexes, unwind triplexes, and inhibit RAD51 strand exchange. ( 19150983 )
2009

Variations for Fanconi Anemia, Complementation Group J

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

76
# 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

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

6 (show top 50) (show all 2153)
# Gene Variation Type Significance SNP ID Assembly Location
1 BRIP1 NM_032043.2(BRIP1): c.139C> G (p.Pro47Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs28903098 GRCh37 Chromosome 17, 59937223: 59937223
2 BRIP1 NM_032043.2(BRIP1): c.139C> G (p.Pro47Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs28903098 GRCh38 Chromosome 17, 61859862: 61859862
3 BRIP1 NM_032043.2(BRIP1): c.897G> A (p.Met299Ile) single nucleotide variant Uncertain significance rs137852985 GRCh37 Chromosome 17, 59885849: 59885849
4 BRIP1 NM_032043.2(BRIP1): c.897G> A (p.Met299Ile) single nucleotide variant Uncertain significance rs137852985 GRCh38 Chromosome 17, 61808488: 61808488
5 BRIP1 NM_032043.2(BRIP1): c.2392C> T (p.Arg798Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs137852986 GRCh37 Chromosome 17, 59793412: 59793412
6 BRIP1 NM_032043.2(BRIP1): c.2392C> T (p.Arg798Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs137852986 GRCh38 Chromosome 17, 61716051: 61716051
7 BRIP1 NM_032043.2(BRIP1): c.1045G> C (p.Ala349Pro) single nucleotide variant Likely pathogenic rs149364097 GRCh37 Chromosome 17, 59878709: 59878709
8 BRIP1 NM_032043.2(BRIP1): c.1045G> C (p.Ala349Pro) single nucleotide variant Likely pathogenic rs149364097 GRCh38 Chromosome 17, 61801348: 61801348
9 BRIP1 NM_032043.2(BRIP1): c.1126_1127delCA (p.Gln376Asnfs) deletion Pathogenic/Likely pathogenic rs587780224 GRCh37 Chromosome 17, 59878627: 59878628
10 BRIP1 NM_032043.2(BRIP1): c.1126_1127delCA (p.Gln376Asnfs) deletion Pathogenic/Likely pathogenic rs587780224 GRCh38 Chromosome 17, 61801266: 61801267
11 BRIP1 NM_032043.2(BRIP1): c.1246C> T (p.Arg416Trp) single nucleotide variant Uncertain significance rs587780225 GRCh37 Chromosome 17, 59876555: 59876555
12 BRIP1 NM_032043.2(BRIP1): c.1246C> T (p.Arg416Trp) single nucleotide variant Uncertain significance rs587780225 GRCh38 Chromosome 17, 61799194: 61799194
13 BRIP1 NM_032043.2(BRIP1): c.1255C> T (p.Arg419Trp) single nucleotide variant Uncertain significance rs150624408 GRCh37 Chromosome 17, 59876546: 59876546
14 BRIP1 NM_032043.2(BRIP1): c.1255C> T (p.Arg419Trp) single nucleotide variant Uncertain significance rs150624408 GRCh38 Chromosome 17, 61799185: 61799185
15 BRIP1 NM_032043.2(BRIP1): c.1315C> T (p.Arg439Ter) single nucleotide variant Pathogenic rs587780226 GRCh37 Chromosome 17, 59876486: 59876486
16 BRIP1 NM_032043.2(BRIP1): c.1315C> T (p.Arg439Ter) single nucleotide variant Pathogenic rs587780226 GRCh38 Chromosome 17, 61799125: 61799125
17 BRIP1 NM_032043.2(BRIP1): c.1357G> A (p.Ala453Thr) single nucleotide variant Uncertain significance rs587780227 GRCh37 Chromosome 17, 59871074: 59871074
18 BRIP1 NM_032043.2(BRIP1): c.1357G> A (p.Ala453Thr) single nucleotide variant Uncertain significance rs587780227 GRCh38 Chromosome 17, 61793713: 61793713
19 BRIP1 NM_032043.2(BRIP1): c.1372G> T (p.Glu458Ter) single nucleotide variant Pathogenic rs587780228 GRCh37 Chromosome 17, 59871059: 59871059
20 BRIP1 NM_032043.2(BRIP1): c.1372G> T (p.Glu458Ter) single nucleotide variant Pathogenic rs587780228 GRCh38 Chromosome 17, 61793698: 61793698
21 BRIP1 NM_032043.2(BRIP1): c.1433A> G (p.His478Arg) single nucleotide variant Benign/Likely benign rs45501097 GRCh37 Chromosome 17, 59870998: 59870998
22 BRIP1 NM_032043.2(BRIP1): c.1433A> G (p.His478Arg) single nucleotide variant Benign/Likely benign rs45501097 GRCh38 Chromosome 17, 61793637: 61793637
23 BRIP1 NM_032043.2(BRIP1): c.1441G> T (p.Gly481Cys) single nucleotide variant Uncertain significance rs587780229 GRCh37 Chromosome 17, 59870990: 59870990
24 BRIP1 NM_032043.2(BRIP1): c.1441G> T (p.Gly481Cys) single nucleotide variant Uncertain significance rs587780229 GRCh38 Chromosome 17, 61793629: 61793629
25 BRIP1 NM_032043.2(BRIP1): c.1444A> G (p.Ile482Val) single nucleotide variant Uncertain significance rs142744352 GRCh37 Chromosome 17, 59870987: 59870987
26 BRIP1 NM_032043.2(BRIP1): c.1444A> G (p.Ile482Val) single nucleotide variant Uncertain significance rs142744352 GRCh38 Chromosome 17, 61793626: 61793626
27 BRIP1 NM_032043.2(BRIP1): c.1467T> G (p.Ile489Met) single nucleotide variant Uncertain significance rs587780230 GRCh37 Chromosome 17, 59870964: 59870964
28 BRIP1 NM_032043.2(BRIP1): c.1467T> G (p.Ile489Met) single nucleotide variant Uncertain significance rs587780230 GRCh38 Chromosome 17, 61793603: 61793603
29 BRIP1 NM_032043.2(BRIP1): c.1735C> T (p.Arg579Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs28997571 GRCh37 Chromosome 17, 59858260: 59858260
30 BRIP1 NM_032043.2(BRIP1): c.1735C> T (p.Arg579Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs28997571 GRCh38 Chromosome 17, 61780899: 61780899
31 BRIP1 NM_032043.2(BRIP1): c.1898T> C (p.Ile633Thr) single nucleotide variant Uncertain significance rs587780232 GRCh37 Chromosome 17, 59857659: 59857659
32 BRIP1 NM_032043.2(BRIP1): c.1898T> C (p.Ile633Thr) single nucleotide variant Uncertain significance rs587780232 GRCh38 Chromosome 17, 61780298: 61780298
33 BRIP1 NM_032043.2(BRIP1): c.1936-5_1936-4delTCinsGT indel Uncertain significance rs587781481 GRCh37 Chromosome 17, 59853927: 59853928
34 BRIP1 NM_032043.2(BRIP1): c.1936-5_1936-4delTCinsGT indel Uncertain significance rs587781481 GRCh38 Chromosome 17, 61776566: 61776567
35 BRIP1 NM_032043.2(BRIP1): c.2038_2039dupTT (p.Leu680Phefs) duplication Pathogenic/Likely pathogenic rs587778134 GRCh37 Chromosome 17, 59853820: 59853821
36 BRIP1 NM_032043.2(BRIP1): c.2038_2039dupTT (p.Leu680Phefs) duplication Pathogenic/Likely pathogenic rs587778134 GRCh38 Chromosome 17, 61776459: 61776460
37 BRIP1 NM_032043.2(BRIP1): c.2087C> T (p.Pro696Leu) single nucleotide variant Uncertain significance rs147755155 GRCh37 Chromosome 17, 59853772: 59853772
38 BRIP1 NM_032043.2(BRIP1): c.2087C> T (p.Pro696Leu) single nucleotide variant Uncertain significance rs147755155 GRCh38 Chromosome 17, 61776411: 61776411
39 BRIP1 NM_032043.2(BRIP1): c.2216T> C (p.Leu739Pro) single nucleotide variant Uncertain significance rs587780234 GRCh37 Chromosome 17, 59821834: 59821834
40 BRIP1 NM_032043.2(BRIP1): c.2216T> C (p.Leu739Pro) single nucleotide variant Uncertain significance rs587780234 GRCh38 Chromosome 17, 61744473: 61744473
41 BRIP1 NM_032043.2(BRIP1): c.2233G> A (p.Ala745Thr) single nucleotide variant Uncertain significance rs587780235 GRCh37 Chromosome 17, 59821817: 59821817
42 BRIP1 NM_032043.2(BRIP1): c.2233G> A (p.Ala745Thr) single nucleotide variant Uncertain significance rs587780235 GRCh38 Chromosome 17, 61744456: 61744456
43 BRIP1 NM_032043.2(BRIP1): c.2273dupT (p.Ala759Serfs) duplication Pathogenic/Likely pathogenic rs587780236 GRCh37 Chromosome 17, 59820480: 59820480
44 BRIP1 NM_032043.2(BRIP1): c.2273dupT (p.Ala759Serfs) duplication Pathogenic/Likely pathogenic rs587780236 GRCh38 Chromosome 17, 61743119: 61743119
45 BRIP1 NM_032043.2(BRIP1): c.2428C> G (p.Leu810Val) single nucleotide variant Uncertain significance rs587780238 GRCh37 Chromosome 17, 59793376: 59793376
46 BRIP1 NM_032043.2(BRIP1): c.2428C> G (p.Leu810Val) single nucleotide variant Uncertain significance rs587780238 GRCh38 Chromosome 17, 61716015: 61716015
47 BRIP1 NM_032043.2(BRIP1): c.2469G> T (p.Arg823Ser) single nucleotide variant Uncertain significance rs587780239 GRCh37 Chromosome 17, 59793335: 59793335
48 BRIP1 NM_032043.2(BRIP1): c.2469G> T (p.Arg823Ser) single nucleotide variant Uncertain significance rs587780239 GRCh38 Chromosome 17, 61715974: 61715974
49 BRIP1 NM_032043.2(BRIP1): c.2492+2dupT duplication Likely pathogenic rs587780240 GRCh37 Chromosome 17, 59793310: 59793310
50 BRIP1 NM_032043.2(BRIP1): c.2492+2dupT duplication Likely pathogenic rs587780240 GRCh38 Chromosome 17, 61715949: 61715949

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

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 9.85 BRIP1 DDX11 FANCA FANCB FANCC FANCD2
2 nucleoplasm GO:0005654 9.65 BRIP1 DDX11 FANCA FANCB FANCC FANCD2
3 Fanconi anaemia nuclear complex GO:0043240 9.02 FANCA FANCB FANCC FANCL FANCM

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.85 BRIP1 DDX11 FANCA FANCB FANCC FANCD2
2 DNA repair GO:0006281 9.65 BRIP1 DDX11 FANCA FANCB FANCC FANCD2
3 regulation of inflammatory response GO:0050727 9.55 FANCA FANCD2
4 DNA duplex unwinding GO:0032508 9.54 BRIP1 DDX11
5 nucleobase-containing compound metabolic process GO:0006139 9.52 BRIP1 DDX11
6 nucleotide-excision repair GO:0006289 9.51 BRIP1 FANCC
7 synapsis GO:0007129 9.49 BRIP1 FANCD2
8 replication fork processing GO:0031297 9.48 DDX11 FANCM
9 regulation of DNA-binding transcription factor activity GO:0051090 9.46 FANCA FANCD2
10 neuronal stem cell population maintenance GO:0097150 9.43 FANCC FANCD2
11 gamete generation GO:0007276 9.43 FANCC FANCD2 FANCL
12 brain morphogenesis GO:0048854 9.4 FANCC FANCD2
13 regulation of regulatory T cell differentiation GO:0045589 9.37 FANCA FANCD2
14 regulation of CD40 signaling pathway GO:2000348 9.32 FANCA FANCD2
15 interstrand cross-link repair GO:0036297 9.17 FANCA FANCB FANCC FANCD2 FANCI FANCL

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

# Name GO ID Score Top Affiliating Genes
1 iron-sulfur cluster binding GO:0051536 9.43 BRIP1 DDX11
2 4 iron, 4 sulfur cluster binding GO:0051539 9.4 BRIP1 DDX11
3 ATP-dependent DNA helicase activity GO:0004003 9.37 BRIP1 DDX11
4 helicase activity GO:0004386 9.33 BRIP1 DDX11 FANCM
5 DNA polymerase binding GO:0070182 9.26 FANCD2 FANCI
6 ATP-dependent helicase activity GO:0008026 8.96 BRIP1 DDX11
7 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 8.62 BRIP1 DDX11
8 protein binding GO:0005515 10.02 BRIP1 DDX11 FANCA FANCB FANCC FANCD2

Sources for Fanconi Anemia, Complementation Group J

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
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