FANCJ
MCID: FNC025
MIFTS: 51

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 40
Fanconi Anemia Complementation Group J 12 74 15
Fancj 57 12 74

Characteristics:

HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0111097
MeSH 44 D005199
MedGen 42 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)

MalaCards based summary : Fanconi Anemia, Complementation Group J, also known as fanconi anemia complementation group j, is related to fanconi anemia, complementation group i and fanconi anemia, complementation group d2. 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 : 74 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.

Wikipedia : 75 Fanconi anemia group J protein is a protein that in humans is encoded by the BRCA1-interacting protein 1... more...

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 all 36)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group i 30.9 FANCI FANCD2
2 fanconi anemia, complementation group d2 30.8 FANCD2 FANCA
3 fanconi anemia, complementation group d1 29.9 FANCD2 FANCC FANCA
4 deficiency anemia 29.7 FANCD2 FANCC FANCA
5 fanconi anemia, complementation group n 29.3 PALB2 FANCM FANCI BRIP1
6 fanconi anemia, complementation group a 25.2 PALB2 FANCM FANCL FANCI FANCD2 FANCC
7 breast cancer 10.4
8 leukemia, acute myeloid 10.2
9 myeloid leukemia 10.2
10 colorectal cancer 10.1
11 bloom syndrome 10.1
12 trichothiodystrophy 1, photosensitive 10.1
13 aplastic anemia 10.1
14 gastric cancer 10.1
15 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.1
16 autosomal recessive disease 10.1
17 leukemia 10.1
18 skin carcinoma 10.1
19 lynch syndrome 10.1
20 fanconi anemia, complementation group p 10.0 FANCM FANCA
21 fanconi anemia, complementation group v 10.0 FANCD2 FANCA
22 fanconi anemia, complementation group o 9.9 FANCM FANCI FANCD2
23 baller-gerold syndrome 9.9 FANCB DDX11
24 isolated tracheoesophageal fistula 9.9 PALB2 FANCC
25 tracheoesophageal fistula with or without esophageal atresia 9.9 PALB2 FANCC
26 fanconi anemia, complementation group l 9.8 FANCL FANCD2
27 fanconi anemia, complementation group f 9.7 FANCD2 FANCC FANCA
28 hereditary breast ovarian cancer syndrome 9.6 PALB2 BRIP1
29 fanconi anemia, complementation group e 9.3 FANCI FANCD2 FANCC FANCA
30 fanconi anemia, complementation group r 9.2 FANCM FANCL FANCI FANCD2
31 tracheoesophageal fistula 9.2 PALB2 FANCC FANCA BRIP1
32 squamous cell carcinoma, head and neck 9.0 FANCL FANCC FANCA
33 fanconi anemia, complementation group q 8.7 FANCM FANCL FANCI FANCD2 FANCA
34 fanconi anemia, complementation group t 8.7 FANCM FANCL FANCI FANCD2 FANCA
35 fanconi anemia, complementation group b 8.6 FANCL FANCD2 FANCC FANCB FANCA
36 congenital hypoplastic anemia 8.0 FANCM FANCL FANCI FANCD2 FANCC FANCA

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:

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

Clinical features from OMIM:

609054

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 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:

46
# 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 29 BRIP1

Anatomical Context for Fanconi Anemia, Complementation Group J

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

41
Bone, Bone Marrow, Breast, Prostate, Colon, T Cells, Myeloid

Publications for Fanconi Anemia, Complementation Group J

Articles related to Fanconi Anemia, Complementation Group J:

(show top 50) (show all 176)
# Title Authors PMID Year
1
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. 38 8 71
16116423 2005
2
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 8 71
16116424 2005
3
Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes. 38 71
20639400 2010
4
Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes. 38 8
14630800 2004
5
Fanconi anemia: at the crossroads of DNA repair. 8
21568838 2011
6
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 71
19888064 2009
7
Esophageal Atresia/Tracheoesophageal Fistula Overview 71
20301753 2009
8
Carrier screening in individuals of Ashkenazi Jewish descent. 71
18197057 2008
9
Fanconi Anemia 71
20301575 2002
10
Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome. 38
31124294 2019
11
An Arabidopsis FANCJ helicase homologue is required for DNA crosslink repair and rDNA repeat stability. 38
31120885 2019
12
[Mutation Spectrum of FANCJ Gene in Adult Acute Myeloid Leukemia]. 38
30998136 2019
13
Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility. 38
30540754 2018
14
DNA translocation mechanism of an XPD family helicase. 38
30520735 2018
15
Opposing Roles of FANCJ and HLTF Protect Forks and Restrain Replication during Stress. 38
30232006 2018
16
A minimal threshold of FANCJ helicase activity is required for its response to replication stress or double-strand break repair. 38
29788478 2018
17
BLM's balancing act and the involvement of FANCJ in DNA repair. 38
30209988 2018
18
FANCJ helicase controls the balance between short- and long-tract gene conversions between sister chromatids. 38
28911102 2017
19
Systematic analysis of DNA crosslink repair pathways during development and aging in Caenorhabditis elegans. 38
28934497 2017
20
G-quadruplexes unfolding by RHAU helicase. 38
28065761 2017
21
BRIP1/FANCJ Mutation Analysis in a Family with History of Male and Female Breast Cancer in India. 38
28382101 2017
22
Hematopoietic stem cell transplantation in FANCJ/BRIP1 fanconi anemia. 38
27869810 2017
23
FANCJ is essential to maintain microsatellite structure genome-wide during replication stress. 38
27794046 2017
24
The helicase DinG responds to stress due to DNA double strand breaks. 38
29121674 2017
25
Chl1 DNA helicase and Scc2 function in chromosome condensation through cohesin deposition. 38
29186203 2017
26
Mgm101: A double-duty Rad52-like protein. 38
27636878 2016
27
Recombination events among virulence genes in malaria parasites are associated with G-quadruplex-forming DNA motifs. 38
27809775 2016
28
Proteomic Profiling Reveals a Specific Role for Translesion DNA Polymerase η in the Alternative Lengthening of Telomeres. 38
27829156 2016
29
HP1 regulates the localization of FANCJ at sites of DNA double-strand breaks. 38
27399284 2016
30
G-quadruplex recognition and remodeling by the FANCJ helicase. 38
27342280 2016
31
Mutational analysis of FANCJ helicase. 38
27107905 2016
32
The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer. 38
27165003 2016
33
FANCJ is essential to maintain microsatellite structure genome-wide during replication stress. 38
27179029 2016
34
Getting Ready for the Dance: FANCJ Irons Out DNA Wrinkles. 38
27376332 2016
35
FANCJ at the FORK. 38
26926912 2016
36
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. 38
26490168 2016
37
Fanconi anemia pathway regulates convergent transcription-induced cell death at trinucleotide repeats in human cells. 38
27595121 2016
38
Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients. 38
26968956 2016
39
Structure of BRCA1-BRCT/Abraxas Complex Reveals Phosphorylation-Dependent BRCT Dimerization at DNA Damage Sites. 38
26778126 2016
40
The Simple Chordate Ciona intestinalis Has a Reduced Complement of Genes Associated with Fanconi Anemia. 38
27279728 2016
41
FANCJ suppresses microsatellite instability and lymphomagenesis independent of the Fanconi anemia pathway. 38
26637282 2015
42
Nucleotide Pool Depletion Induces G-Quadruplex-Dependent Perturbation of Gene Expression. 38
26686635 2015
43
FANCJ protein is important for the stability of FANCD2/FANCI proteins and protects them from proteasome and caspase-3 dependent degradation. 38
26336824 2015
44
Conserved overlapping gene arrangement, restricted expression, and biochemical activities of DNA polymerase ν (POLN). 38
26269593 2015
45
Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics. 38
26254775 2015
46
hMSH5 Facilitates the Repair of Camptothecin-induced Double-strand Breaks through an Interaction with FANCJ. 38
26055704 2015
47
Spectrum of variations in dog-1/FANCJ and mdf-1/MAD1 defective Caenorhabditis elegans strains after long-term propagation. 38
25880765 2015
48
A distinct triplex DNA unwinding activity of ChlR1 helicase. 38
25561740 2015
49
[Structure and evolution of the eukaryotic FANCJ-like proteins]. 38
25665647 2015
50
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. 38
25472942 2015

Variations for Fanconi Anemia, Complementation Group J

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

6 (show top 50) (show all 1274)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BRIP1 NM_032043.2(BRIP1): c.2786_2789dup (p.Pro931fs) duplication Pathogenic rs1295703239 17:59763313-59763316 17:61685952-61685955
2 BRIP1 NC_000017.10: g.(?_59924462)_(59926617_?)del deletion Pathogenic 17:59924462-59926617 17:61847101-61849256
3 BRIP1 NM_032043.2(BRIP1): c.1495C> T (p.Gln499Ter) single nucleotide variant Pathogenic rs1060501739 17:59861764-59861764 17:61784403-61784403
4 BRIP1 NM_032043.2(BRIP1): c.68dup (p.Ser24fs) duplication Pathogenic rs1555618716 17:59938833-59938833 17:61861472-61861472
5 BRIP1 NM_032043.2(BRIP1): c.2947dup (p.Ile983fs) duplication Pathogenic rs774684620 17:59761460-59761460 17:61684099-61684099
6 BRIP1 NM_032043.2(BRIP1): c.2732dup (p.Thr912fs) duplication Pathogenic rs752780954 17:59763370-59763370 17:61686009-61686009
7 BRIP1 NM_032043.2(BRIP1): c.632del (p.Pro211fs) deletion Pathogenic rs1060501779 17:59886114-59886114 17:61808753-61808753
8 BRIP1 NM_032043.2(BRIP1): c.548del (p.Leu183fs) deletion Pathogenic rs1060501778 17:59924541-59924541 17:61847180-61847180
9 BRIP1 NM_032043.2(BRIP1): c.270C> A (p.Cys90Ter) single nucleotide variant Pathogenic rs1060501740 17:59934528-59934528 17:61857167-61857167
10 BRIP1 NM_032043.2(BRIP1): c.94-7_178dup duplication Pathogenic rs1555618396 17:59937184-59937275 17:61859823-61859914
11 BRIP1 NM_032043.2(BRIP1): c.1510del (p.Ile504fs) deletion Pathogenic rs775735278 17:59861749-59861749 17:61784388-61784388
12 BRIP1 NM_032043.2(BRIP1): c.1970del (p.Gly657fs) deletion Pathogenic rs760782298 17:59853889-59853889 17:61776528-61776528
13 BRIP1 NM_032043.2(BRIP1): c.777dup (p.Thr260fs) duplication Pathogenic rs1555609254 17:59885969-59885969 17:61808608-61808608
14 BRIP1 NM_032043.2(BRIP1): c.200_201dup (p.Ser68fs) duplication Pathogenic rs1555618374 17:59937161-59937162 17:61859800-61859801
15 BRIP1 NM_032043.2(BRIP1): c.876del (p.Phe292fs) deletion Pathogenic rs1555609162 17:59885870-59885870 17:61808509-61808509
16 BRIP1 NC_000017.10: g.(?_59853756)_(59878841_?)del deletion Pathogenic 17:59853756-59878841 17:61776395-61801480
17 BRIP1 NC_000017.10: g.(?_59820368)_(59886124_?)del deletion Pathogenic 17:59820368-59886124 17:61743007-61808763
18 BRIP1 NC_000017.10: g.(?_59853756)_(59938906_?)del deletion Pathogenic 17:59853756-59938906 17:61776395-61861545
19 BRIP1 NM_032043.2(BRIP1): c.2786_2789del (p.Leu929fs) deletion Pathogenic rs1295703239 17:59763313-59763316 17:61685952-61685955
20 BRIP1 NM_032043.2(BRIP1): c.2589G> A (p.Trp863Ter) single nucleotide variant Pathogenic rs1555573497 17:59763513-59763513 17:61686152-61686152
21 BRIP1 NM_032043.2(BRIP1): c.1916_1917AT[1] (p.Ile640fs) short repeat Pathogenic rs1555602127 17:59857638-59857639 17:61780277-61780278
22 BRIP1 NM_032043.2(BRIP1): c.2223_2225dup (p.Tyr742Ter) duplication Pathogenic rs1310861578 17:59821825-59821827 17:61744464-61744466
23 BRIP1 NM_032043.2(BRIP1): c.918del (p.Asn306fs) deletion Pathogenic rs1555609116 17:59885828-59885828 17:61808467-61808467
24 BRIP1 NM_032043.2(BRIP1): c.1004G> A (p.Trp335Ter) single nucleotide variant Pathogenic rs1555607749 17:59878750-59878750 17:61801389-61801389
25 BRIP1 NM_032043.2(BRIP1): c.1414G> T (p.Glu472Ter) single nucleotide variant Pathogenic rs1555605902 17:59871017-59871017 17:61793656-61793656
26 BRIP1 NM_032043.2(BRIP1): c.2038_2039del (p.Leu680fs) deletion Pathogenic rs587778134 17:59853820-59853821 17:61776459-61776460
27 BRIP1 NM_032043.2(BRIP1): c.448G> T (p.Glu150Ter) single nucleotide variant Pathogenic rs762701532 17:59926549-59926549 17:61849188-61849188
28 BRIP1 NM_032043.2(BRIP1): c.2792del (p.Pro931fs) deletion Pathogenic rs1555573327 17:59763310-59763310 17:61685949-61685949
29 BRIP1 NM_032043.2(BRIP1): c.2517G> A (p.Trp839Ter) single nucleotide variant Pathogenic rs1555574803 17:59770849-59770849 17:61693488-61693488
30 BRIP1 NM_032043.2(BRIP1): c.2464dup (p.Tyr822fs) duplication Pathogenic rs1483527885 17:59793340-59793340 17:61715979-61715979
31 BRIP1 NM_032043.2(BRIP1): c.103G> T (p.Gly35Ter) single nucleotide variant Pathogenic rs373104267 17:59937259-59937259 17:61859898-61859898
32 BRIP1 NM_032043.2(BRIP1): c.210del (p.Lys70fs) deletion Pathogenic rs1555617925 17:59934588-59934588 17:61857227-61857227
33 BRIP1 NM_032043.2(BRIP1): c.1594dup (p.Met532fs) duplication Pathogenic rs1339743866 17:59861665-59861665 17:61784304-61784304
34 BRIP1 NM_032043.2(BRIP1): c.1315C> T (p.Arg439Ter) single nucleotide variant Pathogenic rs587780226 17:59876486-59876486 17:61799125-61799125
35 BRIP1 NM_032043.2(BRIP1): c.1372G> T (p.Glu458Ter) single nucleotide variant Pathogenic rs587780228 17:59871059-59871059 17:61793698-61793698
36 BRIP1 NM_032043.2(BRIP1): c.133G> T (p.Glu45Ter) single nucleotide variant Pathogenic rs587781292 17:59937229-59937229 17:61859868-61859868
37 BRIP1 NM_032043.2(BRIP1): c.1871C> A (p.Ser624Ter) single nucleotide variant Pathogenic rs587781321 17:59857686-59857686 17:61780325-61780325
38 BRIP1 NM_032043.2(BRIP1): c.394dup (p.Thr132fs) duplication Pathogenic rs587781416 17:59926603-59926603 17:61849242-61849242
39 BRIP1 NM_032043.2(BRIP1): c.463C> T (p.Gln155Ter) single nucleotide variant Pathogenic rs587781786 17:59926534-59926534 17:61849173-61849173
40 BRIP1 NM_032043.2(BRIP1): c.141del (p.Thr48fs) deletion Pathogenic rs587782065 17:59937221-59937221 17:61859860-61859860
41 BRIP1 NM_032043.2(BRIP1): c.2400C> G (p.Tyr800Ter) single nucleotide variant Pathogenic rs574552037 17:59793404-59793404 17:61716043-61716043
42 BRIP1 NM_032043.2(BRIP1): c.2255_2256del (p.Lys752fs) deletion Pathogenic rs730881649 17:59821794-59821795 17:61744433-61744434
43 BRIP1 NM_032043.2(BRIP1): c.1201_1202TG[4] (p.Ala402fs) short repeat Pathogenic rs730881647 17:59876597-59876600 17:61799236-61799239
44 BRIP1 NM_032043.2(BRIP1): c.1066C> T (p.Arg356Ter) single nucleotide variant Pathogenic rs730881633 17:59878688-59878688 17:61801327-61801327
45 BRIP1 NM_032043.2(BRIP1): c.3004_3005insTGACAGCT (p.Trp1002fs) insertion Pathogenic rs763443434 17:59761402-59761403 17:61684041-61684042
46 BRIP1 NM_032043.2(BRIP1): c.2992_2995del (p.Lys998fs) deletion Pathogenic rs786203717 17:59761412-59761415 17:61684051-61684054
47 BRIP1 NM_032043.2(BRIP1): c.2108delinsTCC (p.Lys703fs) indel Pathogenic rs786203384 17:59821942-59821942 17:61744581-61744581
48 BRIP1 NM_032043.2(BRIP1): c.2010dup (p.Glu671Ter) duplication Pathogenic rs775537066 17:59853849-59853849 17:61776488-61776488
49 BRIP1 NM_032043.2(BRIP1): c.1383T> G (p.Tyr461Ter) single nucleotide variant Pathogenic rs587780875 17:59871048-59871048 17:61793687-61793687
50 BRIP1 NM_032043.2(BRIP1): c.1236del (p.Val413fs) deletion Pathogenic rs863224525 17:59876565-59876565 17:61799204-61799204

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

74
# 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

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 PALB2 FANCM FANCL FANCI FANCD2 FANCC
2 nucleoplasm GO:0005654 9.65 PALB2 FANCM FANCL FANCI FANCD2 FANCC
3 Fanconi anaemia nuclear complex GO:0043240 9.02 FANCM FANCL FANCC FANCB FANCA

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 interstrand cross-link repair GO:0036297 9.7 FANCM FANCL FANCI FANCD2 FANCC FANCB
2 DNA repair GO:0006281 9.65 PALB2 FANCM FANCL FANCI FANCD2 FANCC
3 regulation of inflammatory response GO:0050727 9.55 FANCD2 FANCA
4 DNA duplex unwinding GO:0032508 9.54 DDX11 BRIP1
5 nucleobase-containing compound metabolic process GO:0006139 9.52 DDX11 BRIP1
6 nucleotide-excision repair GO:0006289 9.51 FANCC BRIP1
7 synapsis GO:0007129 9.49 FANCD2 BRIP1
8 replication fork processing GO:0031297 9.48 FANCM DDX11
9 regulation of DNA-binding transcription factor activity GO:0051090 9.46 FANCD2 FANCA
10 neuronal stem cell population maintenance GO:0097150 9.43 FANCD2 FANCC
11 gamete generation GO:0007276 9.43 FANCL FANCD2 FANCC
12 brain morphogenesis GO:0048854 9.4 FANCD2 FANCC
13 regulation of regulatory T cell differentiation GO:0045589 9.37 FANCD2 FANCA
14 regulation of CD40 signaling pathway GO:2000348 9.32 FANCD2 FANCA
15 cellular response to DNA damage stimulus GO:0006974 9.32 PALB2 FANCM FANCL FANCI FANCD2 FANCC

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 DDX11 BRIP1
2 4 iron, 4 sulfur cluster binding GO:0051539 9.4 DDX11 BRIP1
3 ATP-dependent DNA helicase activity GO:0004003 9.37 DDX11 BRIP1
4 helicase activity GO:0004386 9.33 FANCM DDX11 BRIP1
5 DNA polymerase binding GO:0070182 9.26 FANCI FANCD2
6 ATP-dependent helicase activity GO:0008026 8.96 DDX11 BRIP1
7 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 8.62 DDX11 BRIP1
8 protein binding GO:0005515 10.02 PALB2 FANCM FANCL FANCI FANCD2 FANCC

Sources for Fanconi Anemia, Complementation Group J

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