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 56 29 13 6 39
Fanconi Anemia Complementation Group J 12 73 15
Fancj 56 12 73

Characteristics:

HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0111097
OMIM 56 609054
OMIM Phenotypic Series 56 PS227650
MeSH 43 D005199
MedGen 41 C1836860

Summaries for Fanconi Anemia, Complementation Group J

OMIM : 56 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 Chks in Checkpoint Regulation. 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 : 73 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 53)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group i 30.9 H2AC18 FANCM FANCI FANCD2
2 fanconi anemia, complementation group d2 30.7 H2AC18 FANCI FANCG FANCD2 FANCA
3 trichothiodystrophy 1, photosensitive 30.2 H2AC18 ERCC6 DDX11 BRIP1
4 lynch syndrome 30.0 RAD51C PALB2 H2AC18 ERCC6
5 aplastic anemia 29.3 H2AC18 FANCM FANCI FANCG FANCD2 FANCC
6 deficiency anemia 28.9 H2AC18 FANCG FANCF FANCE FANCD2 FANCC
7 fanconi anemia, complementation group n 27.0 SLX4 RAD51C PALB2 H2AC18 FANCM FANCL
8 fanconi anemia, complementation group d1 27.0 SLX4 RAD51C PALB2 H2AC18 FANCM FANCL
9 fanconi anemia, complementation group a 26.1 SLX4 RAD51C PIF1 PALB2 H2AC18 FANCM
10 maternal uniparental disomy 10.4 SLX4 FANCA
11 breast cancer 10.4
12 maternal uniparental disomy of chromosome 16 10.4 SLX4 FANCA
13 thrombophlebitis migrans 10.3 SLX4 FANCI FANCA
14 fanconi anemia, complementation group l 10.3 FANCL FANCI FANCD2
15 tracheoesophageal fistula with or without esophageal atresia 10.3 PALB2 FANCC
16 interstitial nephritis, karyomegalic 10.3 SLX4 FANCI FANCD2
17 warsaw breakage syndrome 10.2 H2AC18 DDX11 BRIP1
18 leukemia, acute myeloid 10.2
19 myeloid leukemia 10.2
20 vacterl association 10.2 FANCL FANCI FANCB
21 esophageal atresia/tracheoesophageal fistula 10.2 FANCC FANCB FANCA BRIP1
22 chronic atrial and intestinal dysrhythmia 10.2 H2AC18 DDX11
23 xeroderma pigmentosum, complementation group d 10.1 H2AC18 ERCC6 DDX11
24 li-fraumeni syndrome 10.1 RAD51C PALB2 H2AC18
25 rothmund-thomson syndrome, type 2 10.1 PIF1 FANCM ERCC6
26 bloom syndrome 10.1
27 gastric cancer 10.1
28 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.1
29 autosomal recessive disease 10.1
30 leukemia 10.1
31 skin carcinoma 10.1
32 xfe progeroid syndrome 10.1 SLX4 ERCC6
33 sporadic breast cancer 10.0 RAD51C PALB2 FANCF FANCD2
34 xeroderma pigmentosum, complementation group f 10.0 SLX4 FANCM FANCD2 FAAP24 ERCC6
35 alpha thalassemia-x-linked intellectual disability syndrome 9.9 H2AC18 ERCC6
36 hereditary breast ovarian cancer syndrome 9.9 RAD51C PALB2 FANCG FANCC BRIP1
37 fanconi anemia, complementation group c 9.8 FANCL FANCI FANCF FANCD2 FANCC FANCA
38 fanconi anemia, complementation group e 9.7 FANCG FANCF FANCE FANCD2 FANCC FANCA
39 dyskeratosis congenita 9.7 PIF1 H2AC18 FANCB FANCA ERCC6 DDX11
40 fanconi anemia, complementation group f 9.6 H2AC18 FANCG FANCF FANCE FANCD2 FANCC
41 seckel syndrome 9.6 H2AC18 FANCM FANCI FANCE FANCD2 FANCA
42 esophageal atresia 9.5 SLX4 FANCM FANCL FANCI FANCE FANCD2
43 fanconi anemia, complementation group b 9.4 FANCL FANCG FANCF FANCE FANCD2 FANCC
44 fanconi anemia, complementation group u 9.3 SLX4 RAD51C FANCM FANCL FANCI FANCF
45 fanconi anemia, complementation group v 9.2 SLX4 FANCM FANCL FANCI FANCE FANCD2
46 squamous cell carcinoma, head and neck 9.2 H2AC18 FANCL FANCG FANCF FANCE FANCD2
47 xeroderma pigmentosum, variant type 9.2 SLX4 H2AC18 FANCM FANCI FANCG FANCD2
48 fanconi anemia, complementation group r 8.8 SLX4 RAD51C PALB2 FANCM FANCL FANCI
49 fanconi anemia, complementation group t 8.6 SLX4 H2AC18 FANCM FANCL FANCI FANCG
50 fanconi anemia, complementation group q 8.3 SLX4 RAD51C PALB2 FANCM FANCL FANCI

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 microphthalmia 31 very rare (1%) HP:0000568
3 multiple cafe-au-lait spots 31 very rare (1%) HP:0007565
4 short thumb 31 very rare (1%) HP:0009778
5 global developmental delay 31 HP:0001263
6 bone marrow hypocellularity 31 HP:0005528
7 postnatal growth retardation 31 HP:0008897
8 chromosomal breakage induced by crosslinking agents 31 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 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.5 BRIP1 ERCC6 FAAP100 FAAP24 FANCA FANCC

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 BRIP1 DDX11 ERCC6 FANCA FANCB FANCC
2 endocrine/exocrine gland MP:0005379 9.93 BRIP1 FANCA FANCB FANCC FANCD2 FANCE
3 neoplasm MP:0002006 9.5 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, Bone Marrow, Breast, Myeloid, Skin, Prostate, Colon

Publications for Fanconi Anemia, Complementation Group J

Articles related to Fanconi Anemia, Complementation Group J:

(show top 50) (show all 181)
# Title Authors PMID Year
1
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. 61 56 6
16116423 2005
2
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 56 6
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. 61 6
20639400 2010
4
Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes. 61 56
14630800 2004
5
Fanconi anemia: at the crossroads of DNA repair. 56
21568838 2011
6
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 6
19888064 2009
7
Esophageal Atresia/Tracheoesophageal Fistula Overview 6
20301753 2009
8
Carrier screening in individuals of Ashkenazi Jewish descent. 6
18197057 2008
9
Fanconi Anemia 6
20301575 2002
10
Assembly of a G-Quadruplex Repair Complex by the FANCJ DNA Helicase and the REV1 Polymerase. 61
31861576 2019
11
LncRNA REG1CP promotes tumorigenesis through an enhancer complex to recruit FANCJ helicase for REG3A transcription. 61
31767869 2019
12
Helicases FANCJ, RTEL1 and BLM Act on Guanine Quadruplex DNA in Vivo. 61
31683575 2019
13
Investigation of the core binding regions of human Werner syndrome and Fanconi anemia group J helicases on replication protein A. 61
31570747 2019
14
Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population. 61
31558676 2019
15
Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome. 61
31124294 2019
16
An Arabidopsis FANCJ helicase homologue is required for DNA crosslink repair and rDNA repeat stability. 61
31120885 2019
17
[Mutation Spectrum of FANCJ Gene in Adult Acute Myeloid Leukemia]. 61
30998136 2019
18
Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility. 61
30540754 2018
19
DNA translocation mechanism of an XPD family helicase. 61
30520735 2018
20
Opposing Roles of FANCJ and HLTF Protect Forks and Restrain Replication during Stress. 61
30232006 2018
21
A minimal threshold of FANCJ helicase activity is required for its response to replication stress or double-strand break repair. 61
29788478 2018
22
BLM's balancing act and the involvement of FANCJ in DNA repair. 61
30209988 2018
23
FANCJ helicase controls the balance between short- and long-tract gene conversions between sister chromatids. 61
28911102 2017
24
Systematic analysis of DNA crosslink repair pathways during development and aging in Caenorhabditis elegans. 61
28934497 2017
25
G-quadruplexes unfolding by RHAU helicase. 61
28065761 2017
26
BRIP1/FANCJ Mutation Analysis in a Family with History of Male and Female Breast Cancer in India. 61
28382101 2017
27
Hematopoietic stem cell transplantation in FANCJ/BRIP1 fanconi anemia. 61
27869810 2017
28
FANCJ is essential to maintain microsatellite structure genome-wide during replication stress. 61
27794046 2017
29
The helicase DinG responds to stress due to DNA double strand breaks. 61
29121674 2017
30
Chl1 DNA helicase and Scc2 function in chromosome condensation through cohesin deposition. 61
29186203 2017
31
Mgm101: A double-duty Rad52-like protein. 61
27636878 2016
32
Recombination events among virulence genes in malaria parasites are associated with G-quadruplex-forming DNA motifs. 61
27809775 2016
33
Proteomic Profiling Reveals a Specific Role for Translesion DNA Polymerase η in the Alternative Lengthening of Telomeres. 61
27829156 2016
34
G-quadruplex recognition and remodeling by the FANCJ helicase. 61
27342280 2016
35
HP1 regulates the localization of FANCJ at sites of DNA double-strand breaks. 61
27399284 2016
36
Mutational analysis of FANCJ helicase. 61
27107905 2016
37
The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer. 61
27165003 2016
38
FANCJ is essential to maintain microsatellite structure genome-wide during replication stress. 61
27179029 2016
39
Getting Ready for the Dance: FANCJ Irons Out DNA Wrinkles. 61
27376332 2016
40
FANCJ at the FORK. 61
26926912 2016
41
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. 61
26490168 2016
42
Fanconi anemia pathway regulates convergent transcription-induced cell death at trinucleotide repeats in human cells. 61
27595121 2016
43
Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients. 61
26968956 2016
44
Structure of BRCA1-BRCT/Abraxas Complex Reveals Phosphorylation-Dependent BRCT Dimerization at DNA Damage Sites. 61
26778126 2016
45
The Simple Chordate Ciona intestinalis Has a Reduced Complement of Genes Associated with Fanconi Anemia. 61
27279728 2016
46
FANCJ suppresses microsatellite instability and lymphomagenesis independent of the Fanconi anemia pathway. 61
26637282 2015
47
Nucleotide Pool Depletion Induces G-Quadruplex-Dependent Perturbation of Gene Expression. 61
26686635 2015
48
FANCJ protein is important for the stability of FANCD2/FANCI proteins and protects them from proteasome and caspase-3 dependent degradation. 61
26336824 2015
49
Conserved overlapping gene arrangement, restricted expression, and biochemical activities of DNA polymerase ν (POLN). 61
26269593 2015
50
Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics. 61
26254775 2015

Variations for Fanconi Anemia, Complementation Group J

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

6 (show top 50) (show all 1138) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRIP1 NM_032043.2(BRIP1):c.1204_1205insTGTGshort repeat Pathogenic 182369 rs730881647 17:59876596-59876597 17:61799235-61799236
2 BRIP1 NM_032043.2(BRIP1):c.1066C>T (p.Arg356Ter)SNV Pathogenic 182345 rs730881633 17:59878688-59878688 17:61801327-61801327
3 BRIP1 NM_032043.2(BRIP1):c.2255_2256del (p.Lys752fs)deletion Pathogenic 182372 rs730881649 17:59821794-59821795 17:61744433-61744434
4 BRIP1 NM_032043.2(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs)insertion Pathogenic 186335 rs763443434 17:59761402-59761403 17:61684041-61684042
5 BRIP1 NM_032043.2(BRIP1):c.2992_2995del (p.Lys998fs)deletion Pathogenic 187416 rs786203717 17:59761412-59761415 17:61684051-61684054
6 BRIP1 NM_032043.2(BRIP1):c.2010dup (p.Glu671Ter)duplication Pathogenic 187476 rs775537066 17:59853848-59853849 17:61776487-61776488
7 BRIP1 NM_032043.2(BRIP1):c.2108delinsTCC (p.Lys703fs)indel Pathogenic 186992 rs786203384 17:59821942-59821942 17:61744581-61744581
8 BRIP1 NM_032043.2(BRIP1):c.1236del (p.Val413fs)deletion Pathogenic 216128 rs863224525 17:59876565-59876565 17:61799204-61799204
9 BRIP1 NM_032043.2(BRIP1):c.1383T>G (p.Tyr461Ter)SNV Pathogenic 216130 rs587780875 17:59871048-59871048 17:61793687-61793687
10 BRIP1 NM_032043.2(BRIP1):c.1315C>T (p.Arg439Ter)SNV Pathogenic 128154 rs587780226 17:59876486-59876486 17:61799125-61799125
11 BRIP1 NM_032043.2(BRIP1):c.1372G>T (p.Glu458Ter)SNV Pathogenic 128156 rs587780228 17:59871059-59871059 17:61793698-61793698
12 BRIP1 NM_032043.2(BRIP1):c.133G>T (p.Glu45Ter)SNV Pathogenic 140808 rs587781292 17:59937229-59937229 17:61859868-61859868
13 BRIP1 NM_032043.2(BRIP1):c.1871C>A (p.Ser624Ter)SNV Pathogenic 140852 rs587781321 17:59857686-59857686 17:61780325-61780325
14 BRIP1 NM_032043.2(BRIP1):c.394dup (p.Thr132fs)duplication Pathogenic 140984 rs587781416 17:59926602-59926603 17:61849241-61849242
15 BRIP1 NM_032043.2(BRIP1):c.463C>T (p.Gln155Ter)SNV Pathogenic 141487 rs587781786 17:59926534-59926534 17:61849173-61849173
16 BRIP1 NM_032043.2(BRIP1):c.141del (p.Thr48fs)deletion Pathogenic 141861 rs587782065 17:59937221-59937221 17:61859860-61859860
17 BRIP1 NM_032043.2(BRIP1):c.2400C>G (p.Tyr800Ter)SNV Pathogenic 142343 rs574552037 17:59793404-59793404 17:61716043-61716043
18 BRIP1 NM_032043.2(BRIP1):c.633del (p.Gly212fs)deletion Pathogenic 232527 rs779466229 17:59886113-59886113 17:61808752-61808752
19 BRIP1 NM_032043.2(BRIP1):c.46del (p.Tyr16fs)deletion Pathogenic 233747 rs876660613 17:59938855-59938855 17:61861494-61861494
20 BRIP1 NM_032043.2(BRIP1):c.576del (p.Thr192_Val193insTer)deletion Pathogenic 233976 rs876660769 17:59924513-59924513 17:61847152-61847152
21 BRIP1 NM_032043.2(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)deletion Pathogenic 241642 rs760551339 17:59763415-59763418 17:61686054-61686057
22 BRIP1 NM_032043.2(BRIP1):c.2479C>T (p.Gln827Ter)SNV Pathogenic 241641 rs786203898 17:59793325-59793325 17:61715964-61715964
23 BRIP1 NM_032043.2(BRIP1):c.2138T>G (p.Leu713Ter)SNV Pathogenic 241638 rs878855145 17:59821912-59821912 17:61744551-61744551
24 BRIP1 NM_032043.2(BRIP1):c.1697_1698insTATATCAAATTGATATTTCAACAAC (p.Lys567_Asn568insIleSerAsnTer)insertion Pathogenic 241628 rs878855140 17:59858297-59858298 17:61780936-61780937
25 BRIP1 NM_032043.2(BRIP1):c.1018_1019insCT (p.Leu340fs)insertion Pathogenic 241621 rs878855134 17:59878735-59878736 17:61801374-61801375
26 BRIP1 NC_000017.10:g.(?_59924462)_(59926617_?)deldeletion Pathogenic 417413 17:59924462-59926617 17:61847101-61849256
27 BRIP1 NM_032043.2(BRIP1):c.2786_2789dup (p.Pro931fs)duplication Pathogenic 407839 rs1295703239 17:59763312-59763313 17:61685951-61685952
28 BRIP1 NM_032043.2(BRIP1):c.68dup (p.Ser24fs)duplication Pathogenic 407789 rs1555618716 17:59938832-59938833 17:61861471-61861472
29 BRIP1 NM_032043.2(BRIP1):c.2947dup (p.Ile983fs)duplication Pathogenic 407863 rs774684620 17:59761459-59761460 17:61684098-61684099
30 BRIP1 NM_032043.2(BRIP1):c.2732dup (p.Thr912fs)duplication Pathogenic 407818 rs752780954 17:59763369-59763370 17:61686008-61686009
31 BRIP1 NM_032043.2(BRIP1):c.632del (p.Pro211fs)deletion Pathogenic 407873 rs1060501779 17:59886114-59886114 17:61808753-61808753
32 BRIP1 NM_032043.2(BRIP1):c.548del (p.Leu183fs)deletion Pathogenic 407872 rs1060501778 17:59924541-59924541 17:61847180-61847180
33 BRIP1 NM_032043.2(BRIP1):c.1495C>T (p.Gln499Ter)SNV Pathogenic 407807 rs1060501739 17:59861764-59861764 17:61784403-61784403
34 BRIP1 NM_032043.2(BRIP1):c.270C>A (p.Cys90Ter)SNV Pathogenic 407808 rs1060501740 17:59934528-59934528 17:61857167-61857167
35 BRIP1 NM_032043.2(BRIP1):c.1510del (p.Ile504fs)deletion Pathogenic 407794 rs775735278 17:59861749-59861749 17:61784388-61784388
36 BRIP1 NM_032043.2(BRIP1):c.94-7_178dupduplication Pathogenic 407793 rs1555618396 17:59937183-59937184 17:61859822-61859823
37 BRIP1 NM_032043.2(BRIP1):c.1970del (p.Gly657fs)deletion Pathogenic 461039 rs760782298 17:59853889-59853889 17:61776528-61776528
38 BRIP1 NM_032043.2(BRIP1):c.200_201dup (p.Ser68fs)duplication Pathogenic 461040 rs1555618374 17:59937160-59937161 17:61859799-61859800
39 BRIP1 NM_032043.2(BRIP1):c.777dup (p.Thr260fs)duplication Pathogenic 461049 rs1555609254 17:59885968-59885969 17:61808607-61808608
40 BRIP1 NM_032043.2(BRIP1):c.876del (p.Phe292fs)deletion Pathogenic 483172 rs1555609162 17:59885870-59885870 17:61808509-61808509
41 BRIP1 NM_032043.2(BRIP1):c.1414G>T (p.Glu472Ter)SNV Pathogenic 479409 rs1555605902 17:59871017-59871017 17:61793656-61793656
42 BRIP1 NM_032043.2(BRIP1):c.1004G>A (p.Trp335Ter)SNV Pathogenic 483210 rs1555607749 17:59878750-59878750 17:61801389-61801389
43 BRIP1 NC_000017.10:g.(?_59853756)_(59878841_?)deldeletion Pathogenic 530387 17:59853756-59878841 17:61776395-61801480
44 BRIP1 NC_000017.10:g.(?_59820368)_(59886124_?)deldeletion Pathogenic 530388 17:59820368-59886124 17:61743007-61808763
45 BRIP1 NC_000017.10:g.(?_59853756)_(59938906_?)deldeletion Pathogenic 530389 17:59853756-59938906 17:61776395-61861545
46 BRIP1 NM_032043.2(BRIP1):c.2786_2789del (p.Leu929fs)deletion Pathogenic 530300 rs1295703239 17:59763313-59763316 17:61685952-61685955
47 BRIP1 NM_032043.2(BRIP1):c.2589G>A (p.Trp863Ter)SNV Pathogenic 530353 rs1555573497 17:59763513-59763513 17:61686152-61686152
48 BRIP1 NM_032043.2(BRIP1):c.2223_2225dup (p.Tyr742Ter)duplication Pathogenic 530323 rs1310861578 17:59821824-59821825 17:61744463-61744464
49 BRIP1 NM_032043.2(BRIP1):c.1918_1919delATshort repeat Pathogenic 530352 rs1555602127 17:59857638-59857639 17:61780277-61780278
50 BRIP1 NM_032043.2(BRIP1):c.918del (p.Asn306fs)deletion Pathogenic 530339 rs1555609116 17:59885828-59885828 17:61808467-61808467

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

73
# 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 RAD51C PALB2 FANCM FANCL FANCI
2
Show member pathways
12.47 FANCG FANCF FANCE FANCD2 FANCC FANCA
3 12.21 FANCD2 FANCB FANCA BRIP1
4
Show member pathways
12 SLX4 RAD51C PALB2 BRIP1
5
Show member pathways
11.85 SLX4 RAD51C PALB2 BRIP1
6 11.83 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

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 RAD51C PIF1 PALB2 H2AC18 FANCM
2 nucleoplasm GO:0005654 9.91 SLX4 RAD51C PALB2 FANCM FANCL FANCI
3 Fanconi anaemia nuclear complex GO:0043240 9.32 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 15)
# Name GO ID Score Top Affiliating Genes
1 interstrand cross-link repair GO:0036297 9.97 SLX4 FANCM FANCL FANCI FANCG FANCF
2 cellular response to DNA damage stimulus GO:0006974 9.93 SLX4 RAD51C PIF1 PALB2 FANCM FANCL
3 DNA replication GO:0006260 9.76 SLX4 PIF1 DDX11 BRIP1
4 double-strand break repair via homologous recombination GO:0000724 9.67 SLX4 RAD51C PALB2
5 DNA recombination GO:0006310 9.67 SLX4 RAD51C PIF1 PALB2
6 nucleotide-excision repair GO:0006289 9.61 SLX4 FANCC BRIP1
7 DNA repair GO:0006281 9.6 SLX4 RAD51C PIF1 PALB2 FANCM FANCL
8 DNA duplex unwinding GO:0032508 9.56 PIF1 ERCC6 DDX11 BRIP1
9 neuronal stem cell population maintenance GO:0097150 9.55 FANCD2 FANCC
10 brain morphogenesis GO:0048854 9.54 FANCD2 FANCC
11 resolution of meiotic recombination intermediates GO:0000712 9.52 SLX4 FANCM
12 regulation of regulatory T cell differentiation GO:0045589 9.51 FANCD2 FANCA
13 gamete generation GO:0007276 9.5 FANCL FANCD2 FANCC
14 positive regulation of double-strand break repair via homologous recombination GO:1905168 9.48 FANCB ERCC6
15 regulation of CD40 signaling pathway GO:2000348 9.4 FANCD2 FANCA

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.39 SLX4 RAD51C PALB2 FANCM FANCL FANCI
2 DNA binding GO:0003677 9.9 RAD51C PIF1 PALB2 H2AC18 FANCM FANCI
3 chromatin binding GO:0003682 9.72 FANCM FAAP24 ERCC6 DDX11 BRIP1
4 DNA polymerase binding GO:0070182 9.48 FANCI FANCD2
5 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.43 DDX11 BRIP1
6 DNA-dependent ATPase activity GO:0008094 9.43 RAD51C ERCC6 DDX11
7 crossover junction endodeoxyribonuclease activity GO:0008821 9.4 SLX4 RAD51C
8 G-quadruplex DNA binding GO:0051880 9.37 PIF1 DDX11
9 DNA helicase activity GO:0003678 9.26 PIF1 ERCC6 DDX11 BRIP1
10 helicase activity GO:0004386 9.02 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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