FANCQ
MCID: FNC047
MIFTS: 46

Fanconi Anemia, Complementation Group Q (FANCQ)

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 Q

MalaCards integrated aliases for Fanconi Anemia, Complementation Group Q:

Name: Fanconi Anemia, Complementation Group Q 56 29 6 39 71
Fanconi Anemia Complementation Group Q 12 73 15
Fancq 56 12 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
fanconi anemia, complementation group q:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111093
OMIM 56 615272
OMIM Phenotypic Series 56 PS227650
MeSH 43 D005199
UMLS 71 C3808988

Summaries for Fanconi Anemia, Complementation Group Q

UniProtKB/Swiss-Prot : 73 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 xeroderma pigmentosum, variant type and fanconi anemia, complementation group p. 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 Chks in Checkpoint Regulation. Affiliated tissues include bone, bone marrow and breast, and related phenotypes are low-set ears and short stature

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

OMIM : 56 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 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 Q via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, variant type 27.2 SLX4 FANCM FANCI FANCG FANCD2 FANCC
2 fanconi anemia, complementation group p 25.0 SLX4 RAD51C PALB2 FANCM FANCL FANCI
3 fanconi anemia, complementation group a 24.3 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
4 maternal uniparental disomy 10.2 SLX4 FANCA
5 maternal uniparental disomy of chromosome 16 10.2 SLX4 FANCA
6 xfe progeroid syndrome 10.2 SLX4 ERCC6 ERCC4
7 cerebro-oculo-facio-skeletal syndrome 10.2 ERCC6 ERCC4
8 ovarian cancer 10.2
9 hutchinson-gilford progeria syndrome 10.2
10 cockayne syndrome 10.2
11 thrombophlebitis migrans 10.1 SLX4 FANCI FANCA
12 cockayne syndrome a 10.1 ERCC6 ERCC4
13 fanconi anemia, complementation group i 10.0 FANCM FANCI FANCD2
14 interstitial nephritis, karyomegalic 10.0 SLX4 FANCI FANCD2
15 xeroderma pigmentosum group e 9.9 ERCC6 ERCC4
16 vacterl association 9.9 FANCL FANCI FANCB
17 fanconi anemia, complementation group d2 9.7 FANCI FANCG FANCD2 FANCA
18 tracheoesophageal fistula with or without esophageal atresia 9.7 PALB2 FANCC
19 esophageal atresia/tracheoesophageal fistula 9.7 FANCC FANCB FANCA ERCC4
20 fanconi anemia, complementation group l 9.7 UBE2T FANCL FANCI FANCD2
21 sporadic breast cancer 9.5 RAD51C PALB2 FANCF FANCD2
22 hereditary breast ovarian cancer syndrome 9.2 RAD51C PALB2 FANCG FANCC
23 xeroderma pigmentosum, complementation group f 9.2 SLX4 FANCM FANCD2 FAAP24 ERCC6 ERCC4
24 fanconi anemia, complementation group c 9.0 FANCL FANCI FANCF FANCD2 FANCC FANCA
25 fanconi anemia, complementation group f 9.0 FANCG FANCF FANCE FANCD2 FANCC FANCA
26 fanconi anemia, complementation group e 9.0 FANCG FANCF FANCE FANCD2 FANCC FANCA
27 seckel syndrome 8.9 FANCM FANCI FANCE FANCD2 FANCA FAAP24
28 aplastic anemia 8.9 FANCM FANCI FANCG FANCD2 FANCC FANCA
29 esophageal atresia 8.6 SLX4 FANCM FANCL FANCI FANCE FANCD2
30 deficiency anemia 8.6 FANCG FANCF FANCE FANCD2 FANCC FANCB
31 fanconi anemia, complementation group b 8.5 FANCL FANCG FANCF FANCE FANCD2 FANCC
32 squamous cell carcinoma, head and neck 8.5 FANCL FANCG FANCF FANCE FANCD2 FANCC
33 fanconi anemia, complementation group u 8.1 UBE2T SLX4 RAD51C FANCM FANCL FANCI
34 fanconi anemia, complementation group v 8.1 UBE2T SLX4 FANCM FANCL FANCI FANCE
35 fanconi anemia, complementation group t 7.4 UBE2T SLX4 FANCM FANCL FANCI FANCG
36 fanconi anemia, complementation group r 7.4 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
37 fanconi anemia, complementation group o 6.5 SLX4 RAD51C PALB2 FANCM FANCL FANCI
38 fanconi anemia, complementation group j 6.5 SLX4 RAD51C PALB2 FANCM FANCL FANCI
39 fanconi anemia, complementation group n 6.2 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
40 congenital hypoplastic anemia 6.1 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
41 fanconi anemia, complementation group d1 6.1 UBE2T SLX4 RAD51C PALB2 FANCM FANCL

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

Human phenotypes related to Fanconi Anemia, Complementation Group Q:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 low-set ears 31 HP:0000369
2 short stature 31 HP:0004322
3 microcephaly 31 HP:0000252
4 bone marrow hypocellularity 31 HP:0005528
5 esophageal atresia 31 HP:0002032
6 absent thumb 31 HP:0009777
7 biliary atresia 31 HP:0005912
8 chromosome breakage 31 HP:0040012

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears

Head And Neck Head:
microcephaly

Abdomen Liver:
biliary atresia

Skeletal Hands:
absent thumbs

Laboratory Abnormalities:
patient cells show increased chromosome breakage

Growth Height:
short stature

Abdomen Gastrointestinal:
esophageal atresia

Growth Other:
growth retardation

Hematology:
bone marrow failure

Clinical features from OMIM:

615272

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 Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-1 10.03 FANCC FANCF FANCL
2 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-2 10.03 FANCC FANCF FANCL
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.83 ERCC4 ERCC6 FAAP24 FANCA FANCC FANCD2
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.77 ERCC4 ERCC6 FANCA FANCD2 FANCM PALB2
5 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.77 ERCC4 ERCC6 FANCA FANCD2 FANCM PALB2
6 Increased gamma-H2AX phosphorylation GR00053-A 9.7 ERCC4 FANCA FANCC FANCE FANCI FANCM
7 Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation GR00242-A-4 9.5 FANCC FANCF FANCL

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 ERCC4 ERCC6 FANCA FANCB FANCC FANCD2
2 endocrine/exocrine gland MP:0005379 10.06 FANCA FANCB FANCC FANCD2 FANCE FANCF
3 growth/size/body region MP:0005378 10 ERCC4 ERCC6 FANCA FANCB FANCD2 FANCE
4 mortality/aging MP:0010768 9.9 ERCC4 ERCC6 FANCA FANCD2 FANCF FANCI
5 neoplasm MP:0002006 9.43 ERCC6 FANCA FANCD2 FANCF FANCM PALB2
6 reproductive system MP:0005389 9.36 FANCA FANCB FANCC FANCD2 FANCE FANCF

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:

40
Bone, Bone Marrow, Breast, Skin

Publications for Fanconi Anemia, Complementation Group Q

Articles related to Fanconi Anemia, Complementation Group Q:

(show all 13)
# Title Authors PMID Year
1
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. 56 6
23623386 2013
2
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 6
19888064 2009
3
Esophageal Atresia/Tracheoesophageal Fistula Overview 6
20301753 2009
4
Carrier screening in individuals of Ashkenazi Jewish descent. 6
18197057 2008
5
Fanconi Anemia 6
20301575 2002
6
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
7
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes. 61
29105242 2018
8
Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF. 61
29325523 2018
9
The Simple Chordate Ciona intestinalis Has a Reduced Complement of Genes Associated with Fanconi Anemia. 61
27279728 2016
10
Physical interaction between SLX4 (FANCP) and XPF (FANCQ) proteins and biological consequences of interaction-defective missense mutations. 61
26453996 2015
11
Fanconi anemia and the development of leukemia. 61
25455269 2014
12
Mutation analysis of the ERCC4/FANCQ gene in hereditary breast cancer. 61
24465539 2014
13
Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles. 61
24027083 2013

Variations for Fanconi Anemia, Complementation Group Q

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

6 (show top 50) (show all 56) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ERCC4 NM_005236.2(ERCC4):c.1484_1488del (p.Thr495fs)deletion Pathogenic 55823 rs397509400 16:14029271-14029275 16:13935414-13935418
2 ERCC4 NM_005236.2(ERCC4):c.2065C>A (p.Arg689Ser)SNV Pathogenic 55824 rs149364215 16:14041518-14041518 16:13947661-13947661
3 ERCC4 NM_005236.2(ERCC4):c.2371_2398dup (p.Ile800fs)duplication Pathogenic 55825 rs397509401 16:14041823-14041824 16:13947966-13947967
4 ERCC4 NM_005236.2(ERCC4):c.689T>C (p.Leu230Pro)SNV Pathogenic 55826 rs397509402 16:14021989-14021989 16:13928132-13928132
5 ERCC4 NC_000016.9:g.(?_14021879)_(14022098_?)deldeletion Pathogenic 541254 16:14021879-14022098 16:13928022-13928241
6 ERCC4 NM_005236.2(ERCC4):c.1731del (p.Arg576_Tyr577insTer)deletion Pathogenic 541251 rs1555468482 16:14029520-14029520 16:13935663-13935663
7 ERCC4 NC_000016.9:g.(?_14014013)_(14042214_?)deldeletion Pathogenic 661743 16:14014013-14042214 16:13920156-13948357
8 ERCC4 NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp)SNV Pathogenic/Likely pathogenic 55829 rs147105770 16:14029554-14029554 16:13935697-13935697
9 ERCC4 NM_005236.2(ERCC4):c.2395C>T (p.Arg799Trp)SNV Conflicting interpretations of pathogenicity 16580 rs121913049 16:14041848-14041848 16:13947991-13947991
10 ERCC4 NM_005236.2(ERCC4):c.2427G>A (p.Thr809=)SNV Conflicting interpretations of pathogenicity 435080 rs2020960 16:14041880-14041880 16:13948023-13948023
11 ERCC4 NM_005236.2(ERCC4):c.532G>T (p.Val178Leu)SNV Uncertain significance 474207 rs149927607 16:14020561-14020561 16:13926704-13926704
12 ERCC4 NM_005236.2(ERCC4):c.1031A>T (p.Tyr344Phe)SNV Uncertain significance 474200 rs145851520 16:14026071-14026071 16:13932214-13932214
13 ERCC4 NM_005236.2(ERCC4):c.260G>A (p.Arg87His)SNV Uncertain significance 541246 rs371487368 16:14015940-14015940 16:13922083-13922083
14 ERCC4 NM_005236.2(ERCC4):c.1633G>A (p.Gly545Arg)SNV Uncertain significance 541249 rs773007457 16:14029422-14029422 16:13935565-13935565
15 ERCC4 NM_005236.2(ERCC4):c.714G>A (p.Lys238=)SNV Uncertain significance 541247 rs780166871 16:14022014-14022014 16:13928157-13928157
16 ERCC4 NM_005236.2(ERCC4):c.1265A>T (p.Asp422Val)SNV Uncertain significance 541250 rs767408205 16:14029054-14029054 16:13935197-13935197
17 ERCC4 NM_005236.2(ERCC4):c.2125G>A (p.Val709Met)SNV Uncertain significance 474203 rs373906926 16:14041578-14041578 16:13947721-13947721
18 ERCC4 NM_005236.2(ERCC4):c.875G>A (p.Arg292Gln)SNV Uncertain significance 541248 rs202243691 16:14024649-14024649 16:13930792-13930792
19 ERCC4 NM_005236.2(ERCC4):c.217A>G (p.Ile73Val)SNV Uncertain significance 134143 rs141591400 16:14015897-14015897 16:13922040-13922040
20 ERCC4 NM_005236.2(ERCC4):c.1563C>G (p.Ser521Arg)SNV Uncertain significance 134153 rs41552412 16:14029352-14029352 16:13935495-13935495
21 ERCC4 NM_005236.2(ERCC4):c.1727G>C (p.Arg576Thr)SNV Uncertain significance 134158 rs1800068 16:14029516-14029516 16:13935659-13935659
22 ERCC4 NM_005236.2(ERCC4):c.16C>T (p.Pro6Ser)SNV Uncertain significance 134131 rs61760160 16:14014038-14014038 16:13920181-13920181
23 ERCC4 NM_005236.2(ERCC4):c.503C>G (p.Ala168Gly)SNV Uncertain significance 240126 rs2020961 16:14020532-14020532 16:13926675-13926675
24 ERCC4 NM_005236.2(ERCC4):c.241G>A (p.Val81Ile)SNV Uncertain significance 408562 rs55761944 16:14015921-14015921 16:13922064-13922064
25 ERCC4 NM_005236.2(ERCC4):c.41C>T (p.Pro14Leu)SNV Uncertain significance 408565 rs754622238 16:14014063-14014063 16:13920206-13920206
26 ERCC4 NM_005236.2(ERCC4):c.889T>A (p.Tyr297Asn)SNV Uncertain significance 408563 rs778480216 16:14024663-14024663 16:13930806-13930806
27 ERCC4 NM_005236.2(ERCC4):c.1212A>G (p.Pro404=)SNV Uncertain significance 408564 rs752193295 16:14028158-14028158 16:13934301-13934301
28 ERCC4 NM_005236.2(ERCC4):c.2591G>A (p.Arg864His)SNV Uncertain significance 541245 rs1211543560 16:14042044-14042044 16:13948187-13948187
29 ERCC4 NM_005236.2(ERCC4):c.413G>A (p.Arg138Lys)SNV Uncertain significance 566287 rs1567243693 16:14020442-14020442 16:13926585-13926585
30 ERCC4 NM_005236.2(ERCC4):c.890A>G (p.Tyr297Cys)SNV Uncertain significance 575691 rs996851583 16:14024664-14024664 16:13930807-13930807
31 ERCC4 NM_005236.2(ERCC4):c.2677A>G (p.Asn893Asp)SNV Uncertain significance 579347 rs201926295 16:14042130-14042130 16:13948273-13948273
32 ERCC4 NM_005236.2(ERCC4):c.1045G>A (p.Ala349Thr)SNV Uncertain significance 573650 rs201410515 16:14026085-14026085 16:13932228-13932228
33 ERCC4 NM_005236.2(ERCC4):c.2288C>T (p.Pro763Leu)SNV Uncertain significance 569796 rs761087753 16:14041741-14041741 16:13947884-13947884
34 ERCC4 NM_005236.2(ERCC4):c.19G>A (p.Ala7Thr)SNV Uncertain significance 568412 rs771117594 16:14014041-14014041 16:13920184-13920184
35 ERCC4 NM_005236.2(ERCC4):c.257G>A (p.Arg86His)SNV Uncertain significance 647625 16:14015937-14015937 16:13922080-13922080
36 ERCC4 NM_005236.2(ERCC4):c.703G>A (p.Ala235Thr)SNV Uncertain significance 646508 16:14022003-14022003 16:13928146-13928146
37 ERCC4 NM_005236.2(ERCC4):c.790A>G (p.Lys264Glu)SNV Uncertain significance 656025 16:14022090-14022090 16:13928233-13928233
38 ERCC4 NM_005236.2(ERCC4):c.798C>G (p.Ile266Met)SNV Uncertain significance 652281 16:14024572-14024572 16:13930715-13930715
39 ERCC4 NM_005236.2(ERCC4):c.1681A>T (p.Ser561Cys)SNV Uncertain significance 653625 16:14029470-14029470 16:13935613-13935613
40 ERCC4 NM_005236.2(ERCC4):c.1787C>A (p.Ala596Glu)SNV Uncertain significance 662825 16:14029576-14029576 16:13935719-13935719
41 ERCC4 NM_005236.2(ERCC4):c.2169C>A (p.Cys723Ter)SNV Uncertain significance 664022 16:14041622-14041622 16:13947765-13947765
42 ERCC4 NM_005236.2(ERCC4):c.2177G>A (p.Arg726His)SNV Uncertain significance 658680 16:14041630-14041630 16:13947773-13947773
43 ERCC4 NM_005236.2(ERCC4):c.2186T>C (p.Ile729Thr)SNV Uncertain significance 647874 16:14041639-14041639 16:13947782-13947782
44 ERCC4 NM_005236.2(ERCC4):c.2295G>T (p.Lys765Asn)SNV Uncertain significance 653697 16:14041748-14041748 16:13947891-13947891
45 ERCC4 NM_005236.2(ERCC4):c.2423C>G (p.Ala808Gly)SNV Uncertain significance 655804 16:14041876-14041876 16:13948019-13948019
46 ERCC4 NM_005236.2(ERCC4):c.2603A>C (p.His868Pro)SNV Uncertain significance 645946 16:14042056-14042056 16:13948199-13948199
47 ERCC4 NM_005236.2(ERCC4):c.2603A>G (p.His868Arg)SNV Uncertain significance 646565 16:14042056-14042056 16:13948199-13948199
48 ERCC4 NM_005236.2(ERCC4):c.2725G>A (p.Val909Ile)SNV Uncertain significance 642503 16:14042178-14042178 16:13948321-13948321
49 ERCC4 NM_005236.2(ERCC4):c.1677T>C (p.Gly559=)SNV Likely benign 415021 rs776049363 16:14029466-14029466 16:13935609-13935609
50 ERCC4 NM_005236.2(ERCC4):c.1983A>G (p.Ala661=)SNV Likely benign 541253 rs373237850 16:14038658-14038658 16:13944801-13944801

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

73
# 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 rs145100847

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.55 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
2
Show member pathways
12.53 FANCG FANCF FANCE FANCD2 FANCC FANCA
3 12.24 UBE2T FANCD2 FANCB FANCA ERCC4
4
Show member pathways
12 SLX4 RAD51C PALB2 ERCC4
5 11.83 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
6
Show member pathways
11.79 SLX4 RAD51C PALB2
7
Show member pathways
11.72 FANCL FANCG FANCF FANCE FANCD2 FANCC
8 11.16 FANCL FANCG FANCF FANCE FANCD2 FANCC
9 11 UBE2T FANCI
10 10.92 ERCC6 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 nucleus GO:0005634 10.09 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
2 nucleoplasm GO:0005654 9.89 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
3 Holliday junction resolvase complex GO:0048476 9.32 SLX4 RAD51C
4 Fanconi anaemia nuclear complex GO:0043240 9.28 FANCM FANCL FANCG FANCF FANCE FANCC
5 ERCC4-ERCC1 complex GO:0070522 9.26 SLX4 ERCC4

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 interstrand cross-link repair GO:0036297 10 UBE2T SLX4 FANCM FANCL FANCI FANCG
2 cellular response to DNA damage stimulus GO:0006974 9.89 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
3 DNA recombination GO:0006310 9.67 SLX4 RAD51C PALB2
4 double-strand break repair via homologous recombination GO:0000724 9.62 SLX4 RAD51C PALB2 ERCC4
5 nucleotide-excision repair GO:0006289 9.61 SLX4 FANCC ERCC4
6 regulation of DNA-binding transcription factor activity GO:0051090 9.56 FANCD2 FANCA
7 response to gamma radiation GO:0010332 9.55 FANCD2 ERCC6
8 DNA repair GO:0006281 9.55 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
9 neuronal stem cell population maintenance GO:0097150 9.54 FANCD2 FANCC
10 gamete generation GO:0007276 9.54 FANCL FANCD2 FANCC
11 brain morphogenesis GO:0048854 9.52 FANCD2 FANCC
12 regulation of regulatory T cell differentiation GO:0045589 9.51 FANCD2 FANCA
13 positive regulation of double-strand break repair via homologous recombination GO:1905168 9.48 FANCB ERCC6
14 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.46 SLX4 ERCC4
15 resolution of meiotic recombination intermediates GO:0000712 9.43 SLX4 FANCM ERCC4
16 regulation of CD40 signaling pathway GO:2000348 9.4 FANCD2 FANCA

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

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.56 UBE2T FANCM FAAP24 ERCC6
2 protein binding GO:0005515 9.53 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
3 DNA polymerase binding GO:0070182 9.16 FANCI FANCD2
4 crossover junction endodeoxyribonuclease activity GO:0008821 8.96 SLX4 RAD51C

Sources for Fanconi Anemia, Complementation Group Q

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
Content
Loading form....