FANCQ
MCID: FNC047
MIFTS: 44

Fanconi Anemia, Complementation Group Q (FANCQ)

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

Aliases & Classifications for Fanconi Anemia, Complementation Group Q

MalaCards integrated aliases for Fanconi Anemia, Complementation Group Q:

Name: Fanconi Anemia, Complementation Group Q 57 29 6 40 73
Fanconi Anemia Complementation Group Q 12 75 15
Fancq 57 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in infancy
two unrelated patients have been reported (last curated june 2013)


HPO:

32
fanconi anemia, complementation group q:
Onset and clinical course phenotypic variability infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fanconi Anemia, Complementation Group Q

UniProtKB/Swiss-Prot : 75 Fanconi anemia complementation group Q: 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.

MalaCards based summary : Fanconi Anemia, Complementation Group Q, also known as fanconi anemia complementation group q, is related to fanconi anemia, complementation group a and maternal uniparental disomy of chromosome 16. An important gene associated with Fanconi Anemia, Complementation Group Q is ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit), and among its related pathways/superpathways are DNA Double-Strand Break Repair and TCR Signaling (Qiagen). Affiliated tissues include bone, bone marrow and skin, and related phenotypes are low-set ears and microcephaly

Disease Ontology : 12 A Fanconi anemia that has material basis in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13.

OMIM : 57 Fanconi anemia (FA) is a rare genomic instability disorder characterized by bone marrow failure, congenital malformations, hypersensitivity to DNA interstrand crosslink-inducing agents, chromosome fragility, and high susceptibility to cancer (summary by Bogliolo et al., 2013). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (615272)

Related Diseases for Fanconi Anemia, Complementation Group Q

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 Q 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 a 27.6 BRCA1 BRCA2 ERCC1 ERCC4 FANCA FANCD2
2 maternal uniparental disomy of chromosome 16 10.2 FANCA SLX4
3 xfe progeroid syndrome 10.2 ERCC1 ERCC4
4 cerebro-oculo-facio-skeletal syndrome 10.1 ERCC1 ERCC4
5 fanconi anemia, complementation group i 10.1 FANCD2 FANCI
6 fanconi anemia, complementation group p 10.1 FANCA FANCM SLX4
7 xeroderma pigmentosum, complementation group g 10.1 ERCC1 ERCC4
8 xeroderma pigmentosum, complementation group f 10.1 ERCC1 ERCC4 SLX4
9 ovarian cancer 10.1
10 fanconi anemia, complementation group l 10.0 FANCD2 FANCL UBE2T
11 fanconi anemia, complementation group o 10.0 FANCD2 FANCI FANCM
12 acoustic neuroma 10.0 ERCC4 RAD51
13 hereditary site-specific ovarian cancer syndrome 9.9 BRCA1 BRCA2
14 xeroderma pigmentosum, variant type 9.9 ERCC1 ERCC4 RAD51
15 breast reconstruction 9.9 BRCA1 BRCA2
16 tuberculous salpingitis 9.9 BRCA1 BRCA2
17 fanconi anemia, complementation group b 9.9 FANCA FANCD2 FANCE FANCL
18 nosophobia 9.9 BRCA1 BRCA2
19 cancerophobia 9.9 BRCA1 BRCA2
20 breast-ovarian cancer, familial 1 9.9 BRCA1 BRCA2
21 fallopian tube adenocarcinoma 9.9 BRCA1 BRCA2
22 synchronous bilateral breast carcinoma 9.9 BRCA1 BRCA2
23 fanconi anemia, complementation group n 9.9 BRCA2 FANCI FANCM
24 glycogen-rich clear cell breast carcinoma 9.9 BRCA1 BRCA2
25 premature menopause 9.9 BRCA1 BRCA2
26 peritoneum cancer 9.9 BRCA1 BRCA2
27 fallopian tube disease 9.9 BRCA1 BRCA2
28 lynch syndrome i 9.9 BRCA1 BRCA2
29 fanconi anemia, complementation group f 9.9 BRCA2 FANCA FANCD2
30 female breast cancer 9.8 BRCA1 BRCA2 ERCC4
31 mutagen sensitivity 9.8 BRCA1 BRCA2
32 pre-malignant neoplasm 9.8 BRCA1 BRCA2
33 primary peritoneal carcinoma 9.8 BRCA1 BRCA2 ERCC1
34 fanconi anemia, complementation group d1 9.8 BRCA2 FANCA FANCD2 FANCE
35 pancreas adenocarcinoma 9.8 BRCA1 BRCA2 ERCC1
36 fallopian tube carcinoma 9.8 BRCA1 BRCA2
37 fanconi anemia, complementation group e 9.7 BRCA1 FANCA FANCD2 FANCE FANCI
38 female reproductive system disease 9.7 BRCA1 BRCA2 XRCC2
39 gonadal disease 9.7 BRCA1 BRCA2 XRCC2
40 cowden disease 9.7 BRCA1 BRCA2 XRCC2
41 lynch syndrome 9.7 BRCA1 BRCA2 XRCC2
42 bilateral breast cancer 9.7 BRCA1 BRCA2 RAD51
43 breast disease 9.7 BRCA1 BRCA2 XRCC2
44 dysgerminoma of ovary 9.7 BRCA1 BRCA2
45 fanconi anemia, complementation group d2 9.6 BRCA2 FANCA FANCD2 RAD51
46 fanconi anemia, complementation group j 9.6 BRCA1 FANCA FANCD2 FANCI FANCL FANCM
47 fanconi anemia, complementation group u 9.6 BRCA1 FANCD2 RAD51 UBE2T XRCC2
48 sporadic breast cancer 9.5 BRCA1 BRCA2 FANCD2 RAD51
49 hereditary breast ovarian cancer syndrome 9.5 BRCA1 BRCA2 RAD51 XRCC2
50 fanconi anemia, complementation group v 9.5 BRCA1 FANCA FANCD2 RAD51 UBE2T XRCC2

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



Diseases related to Fanconi Anemia, Complementation Group Q

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group Q

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Growth Height:
short stature

Abdomen Liver:
biliary atresia

Skeletal Hands:
absent thumbs

Laboratory Abnormalities:
patient cells show increased chromosome breakage

Head And Neck Head:
microcephaly

Abdomen Gastrointestinal:
esophageal atresia

Growth Other:
growth retardation

Hematology:
bone marrow failure


Clinical features from OMIM:

615272

Human phenotypes related to Fanconi Anemia, Complementation Group Q:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 microcephaly 32 HP:0000252
3 short stature 32 HP:0004322
4 bone marrow hypocellularity 32 HP:0005528
5 esophageal atresia 32 HP:0002032
6 biliary atresia 32 HP:0005912
7 absent thumb 32 HP:0009777

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 10.83 BRCA1 RAD51 XRCC2
2 Decreased homologous recombination repair frequency GR00151-A-2 10.83 BRCA1 RAD51 XRCC2
3 Decreased homologous recombination repair frequency GR00236-A-1 10.83 BRCA1 BRCA2 FANCA FANCI RAD51
4 Decreased homologous recombination repair frequency GR00236-A-2 10.83 BRCA1 BRCA2 FANCA FANCI RAD51
5 Decreased homologous recombination repair frequency GR00236-A-3 10.83 BRCA1 BRCA2 FANCA RAD51
6 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.97 BRCA1 BRCA2 ERCC1 ERCC4 FANCA FANCD2
7 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.89 BRCA1 BRCA2 ERCC1 ERCC4 FANCA FANCD2
8 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.89 BRCA1 BRCA2 ERCC1 ERCC4 FANCA FANCD2
9 Decreased viability with cisplatin GR00101-A-4 9.43 BRCA1 BRCA2 RAD51
10 Synthetic lethal with cisplatin GR00101-A-1 9.13 BRCA1 BRCA2 RAD51

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.17 BRCA1 BRCA2 ERCC1 ERCC4 FANCA FANCD2
2 growth/size/body region MP:0005378 10.02 BRCA1 BRCA2 ERCC1 ERCC4 FANCA FANCD2
3 endocrine/exocrine gland MP:0005379 9.97 BRCA1 BRCA2 ERCC1 FANCA FANCD2 FANCL
4 embryo MP:0005380 9.95 BRCA1 BRCA2 ERCC1 FANCA FANCL RAD51
5 mortality/aging MP:0010768 9.93 BRCA1 BRCA2 ERCC1 ERCC4 FANCA FANCD2
6 limbs/digits/tail MP:0005371 9.65 BRCA1 BRCA2 FANCD2 SLX4 XRCC2
7 neoplasm MP:0002006 9.5 BRCA1 BRCA2 ERCC1 FANCA FANCD2 FANCM
8 reproductive system MP:0005389 9.23 BRCA1 BRCA2 ERCC1 FANCA FANCD2 FANCL

Drugs & Therapeutics for Fanconi Anemia, Complementation Group Q

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

Genetic Tests for Fanconi Anemia, Complementation Group Q

Genetic tests related to Fanconi Anemia, Complementation Group Q:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group Q 29 ERCC4

Anatomical Context for Fanconi Anemia, Complementation Group Q

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

41
Bone, Bone Marrow, Skin, Ovary, Pancreas

Publications for Fanconi Anemia, Complementation Group Q

Variations for Fanconi Anemia, Complementation Group Q

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

75
# Symbol AA change Variation ID SNP ID
1 ERCC4 p.Leu230Pro VAR_070086 rs397509402
2 ERCC4 p.Arg689Ser VAR_070089 rs149364215
3 ERCC4 p.Ser786Phe VAR_072087

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

6 (show top 50) (show all 130)
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC4 NM_005236.2(ERCC4): c.2395C> T (p.Arg799Trp) single nucleotide variant Uncertain significance rs121913049 GRCh37 Chromosome 16, 14041848: 14041848
2 ERCC4 NM_005236.2(ERCC4): c.2395C> T (p.Arg799Trp) single nucleotide variant Uncertain significance rs121913049 GRCh38 Chromosome 16, 13947991: 13947991
3 ERCC4 NM_005236.2(ERCC4): c.1484_1488delCTCAA (p.Thr495Asnfs) deletion Pathogenic rs397509400 GRCh37 Chromosome 16, 14029273: 14029277
4 ERCC4 NM_005236.2(ERCC4): c.1484_1488delCTCAA (p.Thr495Asnfs) deletion Pathogenic rs397509400 GRCh38 Chromosome 16, 13935416: 13935420
5 ERCC4 NM_005236.2(ERCC4): c.2065C> A (p.Arg689Ser) single nucleotide variant Pathogenic rs149364215 GRCh37 Chromosome 16, 14041518: 14041518
6 ERCC4 NM_005236.2(ERCC4): c.2065C> A (p.Arg689Ser) single nucleotide variant Pathogenic rs149364215 GRCh38 Chromosome 16, 13947661: 13947661
7 ERCC4 NM_005236.2(ERCC4): c.2371_2398dup28 (p.Ile800Thrfs) duplication Pathogenic rs397509401 GRCh37 Chromosome 16, 14041824: 14041851
8 ERCC4 NM_005236.2(ERCC4): c.2371_2398dup28 (p.Ile800Thrfs) duplication Pathogenic rs397509401 GRCh38 Chromosome 16, 13947967: 13947994
9 ERCC4 NM_005236.2(ERCC4): c.689T> C (p.Leu230Pro) single nucleotide variant Pathogenic rs397509402 GRCh37 Chromosome 16, 14021989: 14021989
10 ERCC4 NM_005236.2(ERCC4): c.689T> C (p.Leu230Pro) single nucleotide variant Pathogenic rs397509402 GRCh38 Chromosome 16, 13928132: 13928132
11 ERCC4 NM_005236.2(ERCC4): c.1765C> T (p.Arg589Trp) single nucleotide variant Likely pathogenic rs147105770 GRCh37 Chromosome 16, 14029554: 14029554
12 ERCC4 NM_005236.2(ERCC4): c.1765C> T (p.Arg589Trp) single nucleotide variant Likely pathogenic rs147105770 GRCh38 Chromosome 16, 13935697: 13935697
13 ERCC4 NM_005236.2(ERCC4): c.2624A> G (p.Glu875Gly) single nucleotide variant Benign/Likely benign rs1800124 GRCh37 Chromosome 16, 14042077: 14042077
14 ERCC4 NM_005236.2(ERCC4): c.2624A> G (p.Glu875Gly) single nucleotide variant Benign/Likely benign rs1800124 GRCh38 Chromosome 16, 13948220: 13948220
15 ERCC4 NM_005236.2(ERCC4): c.16C> T (p.Pro6Ser) single nucleotide variant Uncertain significance rs61760160 GRCh37 Chromosome 16, 14014038: 14014038
16 ERCC4 NM_005236.2(ERCC4): c.16C> T (p.Pro6Ser) single nucleotide variant Uncertain significance rs61760160 GRCh38 Chromosome 16, 13920181: 13920181
17 ERCC4 NM_005236.2(ERCC4): c.1984T> C (p.Ser662Pro) single nucleotide variant Benign/Likely benign rs2020955 GRCh37 Chromosome 16, 14038659: 14038659
18 ERCC4 NM_005236.2(ERCC4): c.1984T> C (p.Ser662Pro) single nucleotide variant Benign/Likely benign rs2020955 GRCh38 Chromosome 16, 13944802: 13944802
19 ERCC4 NM_005236.2(ERCC4): c.2617A> G (p.Ile873Val) single nucleotide variant Benign/Likely benign rs2020957 GRCh37 Chromosome 16, 14042070: 14042070
20 ERCC4 NM_005236.2(ERCC4): c.2617A> G (p.Ile873Val) single nucleotide variant Benign/Likely benign rs2020957 GRCh38 Chromosome 16, 13948213: 13948213
21 ERCC4 NM_005236.2(ERCC4): c.2545C> G (p.Gln849Glu) single nucleotide variant Likely benign rs374186605 GRCh37 Chromosome 16, 14041998: 14041998
22 ERCC4 NM_005236.2(ERCC4): c.2545C> G (p.Gln849Glu) single nucleotide variant Likely benign rs374186605 GRCh38 Chromosome 16, 13948141: 13948141
23 ERCC4 NM_005236.2(ERCC4): c.2579C> A (p.Ala860Asp) single nucleotide variant Likely benign rs4986933 GRCh37 Chromosome 16, 14042032: 14042032
24 ERCC4 NM_005236.2(ERCC4): c.2579C> A (p.Ala860Asp) single nucleotide variant Likely benign rs4986933 GRCh38 Chromosome 16, 13948175: 13948175
25 ERCC4 NM_005236.2(ERCC4): c.2734G> A (p.Gly912Arg) single nucleotide variant Likely benign rs150077735 GRCh37 Chromosome 16, 14042187: 14042187
26 ERCC4 NM_005236.2(ERCC4): c.2734G> A (p.Gly912Arg) single nucleotide variant Likely benign rs150077735 GRCh38 Chromosome 16, 13948330: 13948330
27 ERCC4 NM_005236.2(ERCC4): c.2117T> C (p.Ile706Thr) single nucleotide variant Uncertain significance rs1800069 GRCh37 Chromosome 16, 14041570: 14041570
28 ERCC4 NM_005236.2(ERCC4): c.2117T> C (p.Ile706Thr) single nucleotide variant Uncertain significance rs1800069 GRCh38 Chromosome 16, 13947713: 13947713
29 ERCC4 NM_005236.2(ERCC4): c.217A> G (p.Ile73Val) single nucleotide variant Uncertain significance rs141591400 GRCh37 Chromosome 16, 14015897: 14015897
30 ERCC4 NM_005236.2(ERCC4): c.217A> G (p.Ile73Val) single nucleotide variant Uncertain significance rs141591400 GRCh38 Chromosome 16, 13922040: 13922040
31 ERCC4 NM_005236.2(ERCC4): c.241G> T (p.Val81Phe) single nucleotide variant Likely benign rs55761944 GRCh37 Chromosome 16, 14015921: 14015921
32 ERCC4 NM_005236.2(ERCC4): c.241G> T (p.Val81Phe) single nucleotide variant Likely benign rs55761944 GRCh38 Chromosome 16, 13922064: 13922064
33 ERCC4 NM_005236.2(ERCC4): c.1135C> T (p.Pro379Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs1799802 GRCh37 Chromosome 16, 14028081: 14028081
34 ERCC4 NM_005236.2(ERCC4): c.1135C> T (p.Pro379Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs1799802 GRCh38 Chromosome 16, 13934224: 13934224
35 ERCC4 NM_005236.2(ERCC4): c.1488A> T (p.Gln496His) single nucleotide variant Likely benign rs146601373 GRCh37 Chromosome 16, 14029277: 14029277
36 ERCC4 NM_005236.2(ERCC4): c.1488A> T (p.Gln496His) single nucleotide variant Likely benign rs146601373 GRCh38 Chromosome 16, 13935420: 13935420
37 ERCC4 NM_005236.2(ERCC4): c.1415C> T (p.Pro472Leu) single nucleotide variant Likely benign rs572439259 GRCh37 Chromosome 16, 14029204: 14029204
38 ERCC4 NM_005236.2(ERCC4): c.1415C> T (p.Pro472Leu) single nucleotide variant Likely benign rs572439259 GRCh38 Chromosome 16, 13935347: 13935347
39 ERCC4 NM_005236.2(ERCC4): c.1563C> G (p.Ser521Arg) single nucleotide variant Uncertain significance rs41552412 GRCh37 Chromosome 16, 14029352: 14029352
40 ERCC4 NM_005236.2(ERCC4): c.1563C> G (p.Ser521Arg) single nucleotide variant Uncertain significance rs41552412 GRCh38 Chromosome 16, 13935495: 13935495
41 ERCC4 NM_005236.2(ERCC4): c.1727G> C (p.Arg576Thr) single nucleotide variant Uncertain significance rs1800068 GRCh37 Chromosome 16, 14029516: 14029516
42 ERCC4 NM_005236.2(ERCC4): c.1727G> C (p.Arg576Thr) single nucleotide variant Uncertain significance rs1800068 GRCh38 Chromosome 16, 13935659: 13935659
43 ERCC4 NM_005236.2(ERCC4): c.33C> T (p.Ala11=) single nucleotide variant Benign rs3136042 GRCh38 Chromosome 16, 13920198: 13920198
44 ERCC4 NM_005236.2(ERCC4): c.33C> T (p.Ala11=) single nucleotide variant Benign rs3136042 GRCh37 Chromosome 16, 14014055: 14014055
45 ERCC4 NM_005236.2(ERCC4): c.252C> T (p.Leu84=) single nucleotide variant Benign/Likely benign rs3136056 GRCh37 Chromosome 16, 14015932: 14015932
46 ERCC4 NM_005236.2(ERCC4): c.252C> T (p.Leu84=) single nucleotide variant Benign/Likely benign rs3136056 GRCh38 Chromosome 16, 13922075: 13922075
47 ERCC4 NM_005236.2(ERCC4): c.503C> G (p.Ala168Gly) single nucleotide variant Uncertain significance rs2020961 GRCh37 Chromosome 16, 14020532: 14020532
48 ERCC4 NM_005236.2(ERCC4): c.503C> G (p.Ala168Gly) single nucleotide variant Uncertain significance rs2020961 GRCh38 Chromosome 16, 13926675: 13926675
49 ERCC4 NM_005236.2(ERCC4): c.2463A> G (p.Pro821=) single nucleotide variant Conflicting interpretations of pathogenicity rs2020953 GRCh37 Chromosome 16, 14041916: 14041916
50 ERCC4 NM_005236.2(ERCC4): c.2463A> G (p.Pro821=) single nucleotide variant Conflicting interpretations of pathogenicity rs2020953 GRCh38 Chromosome 16, 13948059: 13948059

Expression for Fanconi Anemia, Complementation Group Q

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

Pathways for Fanconi Anemia, Complementation Group Q

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

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 BRCA1 BRCA2 ERCC1 ERCC4 FANCA FANCD2
2
Show member pathways
12.69 BRCA1 BRCA2 FANCD2 FANCL RAD51
3
Show member pathways
12.61 BRCA1 BRCA2 ERCC1 ERCC4 FANCA FANCD2
4 12.39 BRCA1 BRCA2 ERCC1 ERCC4 FANCA FANCD2
5
Show member pathways
12.21 BRCA1 BRCA2 ERCC1 ERCC4 RAD51 SLX4
6
Show member pathways
12.01 BRCA1 BRCA2 RAD51 SLX4 XRCC2
7 11.89 BRCA1 BRCA2 RAD51
8
Show member pathways
11.72 BRCA1 BRCA2 FANCA FANCD2 FANCE FANCL
9
Show member pathways
11.61 BRCA1 FANCD2 RAD51
10 11.46 BRCA1 BRCA2 FANCD2 FANCL RAD51
11 11.41 BRCA1 BRCA2 ERCC1 ERCC4 FANCA FANCD2
12 11.3 BRCA1 FANCD2 FANCL
13 11.1 BRCA1 FANCA FANCD2 FANCE FANCL RAD51
14 11.08 FANCI UBE2T
15
Show member pathways
11.04 ERCC1 ERCC4
16 11 ERCC1 ERCC4

GO Terms for Fanconi Anemia, Complementation Group Q

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

# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 9.72 BRCA2 ERCC1 ERCC4 RAD51 SLX4
2 condensed chromosome GO:0000793 9.58 BRCA1 FANCD2 RAD51
3 lateral element GO:0000800 9.54 BRCA1 BRCA2 RAD51
4 nucleoplasm GO:0005654 9.47 BRCA1 BRCA2 ERCC1 ERCC4 FANCA FANCD2
5 nucleotide-excision repair complex GO:0000109 9.46 ERCC1 ERCC4
6 nucleotide-excision repair factor 1 complex GO:0000110 9.43 ERCC1 ERCC4
7 ERCC4-ERCC1 complex GO:0070522 9.33 ERCC1 ERCC4 SLX4
8 Fanconi anaemia nuclear complex GO:0043240 9.26 FANCA FANCE FANCL FANCM
9 nucleus GO:0005634 10.1 BRCA1 BRCA2 ERCC1 ERCC4 FANCA FANCD2

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

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell proliferation GO:0042127 9.85 BRCA1 FANCA FANCL
2 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.82 ERCC1 ERCC4 FANCM
3 DNA recombination GO:0006310 9.8 BRCA1 BRCA2 ERCC1 RAD51 SLX4 XRCC2
4 DNA repair GO:0006281 9.8 BRCA1 BRCA2 ERCC1 ERCC4 FANCA FANCD2
5 multicellular organism growth GO:0035264 9.79 BRCA2 ERCC1 XRCC2
6 double-strand break repair GO:0006302 9.77 BRCA1 BRCA2 ERCC1
7 double-strand break repair via nonhomologous end joining GO:0006303 9.76 BRCA1 ERCC1 ERCC4
8 double-strand break repair via homologous recombination GO:0000724 9.73 BRCA1 BRCA2 ERCC4 RAD51 SLX4 XRCC2
9 protein monoubiquitination GO:0006513 9.68 FANCL UBE2T
10 chromosome organization GO:0051276 9.68 BRCA2 ERCC1
11 replication fork processing GO:0031297 9.67 FANCM RAD51
12 global genome nucleotide-excision repair GO:0070911 9.67 ERCC1 ERCC4
13 nucleotide-excision repair GO:0006289 9.67 BRCA2 ERCC1 ERCC4 SLX4
14 regulation of DNA-binding transcription factor activity GO:0051090 9.66 FANCA FANCD2
15 female gonad development GO:0008585 9.66 BRCA2 FANCA
16 gamete generation GO:0007276 9.65 FANCD2 FANCL
17 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.65 ERCC1 ERCC4
18 response to gamma radiation GO:0010332 9.65 BRCA2 FANCD2 XRCC2
19 regulation of regulatory T cell differentiation GO:0045589 9.64 FANCA FANCD2
20 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.64 BRCA1 BRCA2
21 UV protection GO:0009650 9.63 ERCC1 ERCC4
22 t-circle formation GO:0090656 9.63 ERCC1 SLX4
23 telomere maintenance via recombination GO:0000722 9.62 BRCA2 RAD51
24 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.62 ERCC4 SLX4
25 mitotic recombination GO:0006312 9.61 ERCC1 RAD51
26 response to X-ray GO:0010165 9.61 BRCA2 ERCC1 XRCC2
27 protein K6-linked ubiquitination GO:0085020 9.6 BRCA1 UBE2T
28 chordate embryonic development GO:0043009 9.58 BRCA1 BRCA2
29 resolution of meiotic recombination intermediates GO:0000712 9.58 ERCC4 FANCM SLX4
30 negative regulation of telomere maintenance GO:0032205 9.57 ERCC1 ERCC4
31 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.56 ERCC1 ERCC4
32 positive regulation of t-circle formation GO:1904431 9.55 ERCC1 SLX4
33 strand invasion GO:0042148 9.54 RAD51 XRCC2
34 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.52 ERCC1 ERCC4
35 regulation of CD40 signaling pathway GO:2000348 9.51 FANCA FANCD2
36 telomeric DNA-containing double minutes formation GO:0061819 9.49 ERCC1 ERCC4
37 mitotic recombination-dependent replication fork processing GO:1990426 9.46 BRCA2 RAD51
38 interstrand cross-link repair GO:0036297 9.36 ERCC1 ERCC4 FANCA FANCD2 FANCE FANCI
39 cellular response to DNA damage stimulus GO:0006974 10 BRCA1 BRCA2 ERCC1 ERCC4 FANCA FANCD2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.97 BRCA1 BRCA2 ERCC1 ERCC4 FANCI FANCM
2 nuclease activity GO:0004518 9.65 ERCC1 ERCC4 FANCM
3 protein C-terminus binding GO:0008022 9.56 BRCA2 ERCC1 ERCC4 RAD51
4 damaged DNA binding GO:0003684 9.5 BRCA1 ERCC1 ERCC4
5 endodeoxyribonuclease activity GO:0004520 9.49 ERCC4 SLX4
6 TFIID-class transcription factor complex binding GO:0001094 9.43 ERCC1 ERCC4
7 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.4 ERCC1 ERCC4
8 single-stranded DNA binding GO:0003697 9.26 BRCA2 ERCC1 ERCC4 RAD51
9 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.16 ERCC1 ERCC4
10 DNA polymerase binding GO:0070182 8.8 FANCD2 FANCI RAD51
11 protein binding GO:0005515 10.27 BRCA1 BRCA2 ERCC1 ERCC4 FANCA FANCD2

Sources for Fanconi Anemia, Complementation Group Q

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
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