FANCJ
MCID: FNC025
MIFTS: 41

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 57 29 13 6 40
Fanconi Anemia Complementation Group J 12 75 15
Fancj 57 12 75

Characteristics:

HPO:

32
fanconi anemia, complementation group j:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 609054
Disease Ontology 12 DOID:0111097
MedGen 42 C1836860
MeSH 44 D005199

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)

MalaCards based summary : Fanconi Anemia, Complementation Group J, also known as fanconi anemia complementation group j, is related to fanconi anemia, complementation group a 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 skin, and related phenotypes are global developmental delay and bone marrow hypocellularity

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 : 75 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 31)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group a 28.2 BRCA1 BRIP1 DDX11 FANCA FANCC FANCD2
2 fanconi anemia, complementation group i 10.1 FANCD2 FANCI
3 fanconi anemia, complementation group p 10.1 FANCA FANCM
4 fanconi anemia, complementation group d2 10.0 FANCA FANCD2
5 fanconi anemia, complementation group u 10.0 BRCA1 FANCD2
6 breast cancer 10.0
7 colorectal cancer 10.0
8 gastric cancer 10.0
9 wrinkles 10.0
10 fanconi anemia, complementation group l 10.0 FANCD2 FANCL
11 fanconi anemia, complementation group o 10.0 FANCD2 FANCI FANCM
12 peritoneum cancer 10.0 BRCA1 PALB2
13 bilateral breast cancer 9.9 BRCA1 PALB2
14 fanconi anemia, complementation group v 9.9 BRCA1 FANCA FANCD2
15 hereditary breast ovarian cancer syndrome 9.9 BRCA1 BRIP1 PALB2
16 tracheoesophageal fistula with or without esophageal atresia 9.9 FANCC PALB2
17 isolated tracheoesophageal fistula 9.9 FANCC PALB2
18 female breast cancer 9.9 BRCA1 PALB2
19 sporadic breast cancer 9.9 BRCA1 FANCD2
20 fanconi anemia, complementation group n 9.8 BRIP1 FANCI FANCM PALB2
21 fanconi anemia, complementation group d1 9.8 FANCA FANCC FANCD2
22 fanconi anemia, complementation group f 9.8 FANCA FANCC FANCD2
23 deficiency anemia 9.8 FANCA FANCC FANCD2
24 tracheoesophageal fistula 9.6 BRIP1 FANCA FANCC PALB2
25 squamous cell carcinoma, head and neck 9.6 FANCA FANCC FANCL
26 fanconi anemia, complementation group b 9.6 FANCA FANCC FANCD2 FANCL
27 fanconi anemia, complementation group r 9.6 BRCA1 FANCD2 FANCI FANCL FANCM
28 fanconi anemia, complementation group e 9.5 BRCA1 FANCA FANCC FANCD2 FANCI
29 fanconi anemia, complementation group q 9.4 BRCA1 FANCA FANCD2 FANCI FANCL FANCM
30 fanconi anemia, complementation group t 9.4 BRCA1 FANCA FANCD2 FANCI FANCL FANCM
31 congenital hypoplastic anemia 9.2 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

Clinical features from OMIM:

609054

Human phenotypes related to Fanconi Anemia, Complementation Group J:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 HP:0001263
2 bone marrow hypocellularity 32 HP:0005528
3 intrauterine growth retardation 32 very rare (1%) HP:0001511
4 postnatal growth retardation 32 HP:0008897
5 microphthalmia 32 very rare (1%) HP:0000568
6 multiple cafe-au-lait spots 32 very rare (1%) HP:0007565
7 short thumb 32 very rare (1%) HP:0009778
8 chromosomal breakage induced by crosslinking agents 32 HP:0003221

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

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 10.48 BRCA1
2 Decreased homologous recombination repair frequency GR00151-A-2 10.48 BRCA1
3 Decreased homologous recombination repair frequency GR00236-A-1 10.48 BRCA1 FANCA FANCI PALB2
4 Decreased homologous recombination repair frequency GR00236-A-2 10.48 BRCA1 FANCA FANCI PALB2
5 Decreased homologous recombination repair frequency GR00236-A-3 10.48 BRCA1 FANCA PALB2
6 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.81 BRCA1 BRIP1 FANCA FANCC FANCD2 FANCI
7 Decreased ionizing radiation sensitivity GR00232-A-1 9.77 BRCA1 BRIP1 FANCA FANCD2 FANCI
8 Increased gamma-H2AX phosphorylation GR00053-A 9.73 BRIP1 FANCA FANCC FANCI FANCM PALB2
9 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.64 BRCA1 FANCA FANCD2 FANCM PALB2
10 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.64 BRCA1 FANCA FANCD2 FANCM PALB2 BRIP1
11 Decreased viability with cisplatin GR00101-A-4 9.32 BRCA1 BRIP1
12 Synthetic lethal with cisplatin GR00101-A-1 8.96 BRCA1 BRIP1

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.97 BRCA1 BRIP1 DDX11 FANCA FANCC FANCD2
2 endocrine/exocrine gland MP:0005379 9.8 BRCA1 BRIP1 FANCA FANCC FANCD2 FANCL
3 mortality/aging MP:0010768 9.76 BRCA1 DDX11 FANCA FANCD2 FANCI FANCL
4 neoplasm MP:0002006 9.43 BRCA1 BRIP1 FANCA FANCD2 FANCM PALB2
5 reproductive system MP:0005389 9.17 BRCA1 BRIP1 FANCA 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 29 BRIP1

Anatomical Context for Fanconi Anemia, Complementation Group J

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

41
Bone, Bone Marrow, Skin

Publications for Fanconi Anemia, Complementation Group J

Articles related to Fanconi Anemia, Complementation Group J:

# Title Authors Year
1
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. ( 16116423 )
2005

Variations for Fanconi Anemia, Complementation Group J

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

75
# Symbol AA change Variation ID SNP ID
1 BRIP1 p.Gln255His VAR_023700
2 BRIP1 p.Ala349Pro VAR_023702
3 BRIP1 p.Trp647Cys VAR_023703
4 BRIP1 p.Arg707Cys VAR_023704

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

6 (show top 50) (show all 2148)
# Gene Variation Type Significance SNP ID Assembly Location
1 BRIP1 NM_032043.2(BRIP1): c.139C> G (p.Pro47Ala) single nucleotide variant Uncertain significance rs28903098 GRCh37 Chromosome 17, 59937223: 59937223
2 BRIP1 NM_032043.2(BRIP1): c.139C> G (p.Pro47Ala) single nucleotide variant Uncertain significance 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 Uncertain significance rs28997571 GRCh37 Chromosome 17, 59858260: 59858260
30 BRIP1 NM_032043.2(BRIP1): c.1735C> T (p.Arg579Cys) single nucleotide variant Uncertain significance 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

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.81 BRCA1 BRIP1 FANCA FANCC FANCD2 FANCI
2
Show member pathways
12.62 BRCA1 BRIP1 FANCC FANCD2 FANCI
3
Show member pathways
12.59 BRCA1 BRIP1 FANCD2 FANCL
4
Show member pathways
12.37 BRCA1 FANCA FANCC FANCD2
5 12.21 BRCA1 BRIP1 FANCA FANCD2
6
Show member pathways
11.97 BRCA1 BRIP1 PALB2
7
Show member pathways
11.84 BRCA1 BRIP1 PALB2
8
Show member pathways
11.57 BRCA1 FANCA FANCC FANCD2 FANCL
9 11.25 BRCA1 BRIP1 FANCA FANCC FANCD2 FANCI
10 11.22 BRCA1 BRIP1 FANCD2 FANCL
11 11.19 BRCA1 FANCD2 FANCL
12 10.82 BRCA1 FANCA FANCC FANCD2 FANCL

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 BRCA1 BRIP1 DDX11 FANCA FANCC FANCD2
2 nucleoplasm GO:0005654 9.65 BRCA1 BRIP1 DDX11 FANCA FANCC FANCD2
3 condensed chromosome GO:0000793 9.26 BRCA1 FANCD2
4 Fanconi anaemia nuclear complex GO:0043240 8.92 FANCA FANCC FANCL FANCM

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 regulation of cell proliferation GO:0042127 9.65 BRCA1 FANCA FANCL
2 cellular response to DNA damage stimulus GO:0006974 9.65 BRCA1 BRIP1 DDX11 FANCA FANCC FANCD2
3 interstrand cross-link repair GO:0036297 9.63 FANCA FANCC FANCD2 FANCI FANCL FANCM
4 double-strand break repair GO:0006302 9.58 BRCA1 BRIP1
5 DNA replication GO:0006260 9.58 BRCA1 BRIP1 DDX11
6 positive regulation of protein ubiquitination GO:0031398 9.57 BRCA1 FANCI
7 DNA duplex unwinding GO:0032508 9.56 BRIP1 DDX11
8 nucleobase-containing compound metabolic process GO:0006139 9.55 BRIP1 DDX11
9 nucleotide-excision repair GO:0006289 9.54 BRIP1 FANCC
10 synapsis GO:0007129 9.52 BRIP1 FANCD2
11 replication fork processing GO:0031297 9.51 DDX11 FANCM
12 regulation of DNA-binding transcription factor activity GO:0051090 9.49 FANCA FANCD2
13 neuronal stem cell population maintenance GO:0097150 9.46 FANCC FANCD2
14 brain morphogenesis GO:0048854 9.43 FANCC FANCD2
15 gamete generation GO:0007276 9.43 FANCC FANCD2 FANCL
16 regulation of regulatory T cell differentiation GO:0045589 9.37 FANCA FANCD2
17 regulation of CD40 signaling pathway GO:2000348 9.32 FANCA FANCD2
18 DNA repair GO:0006281 9.32 BRCA1 BRIP1 DDX11 FANCA FANCC FANCD2

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.88 BRCA1 BRIP1 DDX11 FANCI FANCM PALB2
2 iron-sulfur cluster binding GO:0051536 9.46 BRIP1 DDX11
3 4 iron, 4 sulfur cluster binding GO:0051539 9.43 BRIP1 DDX11
4 ATP-dependent DNA helicase activity GO:0004003 9.37 BRIP1 DDX11
5 helicase activity GO:0004386 9.33 BRIP1 DDX11 FANCM
6 DNA polymerase binding GO:0070182 9.26 FANCD2 FANCI
7 ATP-dependent helicase activity GO:0008026 8.96 BRIP1 DDX11
8 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 8.62 BRIP1 DDX11
9 protein binding GO:0005515 10.02 BRCA1 BRIP1 DDX11 FANCA FANCC FANCD2

Sources for Fanconi Anemia, Complementation Group J

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....