FANCQ
MCID: FNC047
MIFTS: 47

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 57 29 6 39 70
Fanconi Anemia Complementation Group Q 12 72 15
Fancq 57 12 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 615272
OMIM Phenotypic Series 57 PS227650
MeSH 44 D005199
UMLS 70 C3808988

Summaries for Fanconi Anemia, Complementation Group Q

UniProtKB/Swiss-Prot : 72 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, complementation group f and deficiency anemia. 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 marrow, bone and breast, and related phenotypes are microcephaly 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® : 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) (Updated 05-Apr-2021)

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 49)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, complementation group f 28.6 SLX4 SLX1B SLX1A FANCM FANCD2 ERCC6
2 deficiency anemia 28.2 FANCM FANCI FANCG FANCF FANCE FANCD2
3 xeroderma pigmentosum, variant type 27.6 SLX4 SLX1B SLX1A FANCM FANCL FANCI
4 fanconi anemia, complementation group p 25.9 SLX4 SLX1B SLX1A RAD51C PALB2 FANCM
5 fanconi anemia, complementation group a 25.7 UBE2T SLX4 SLX1B SLX1A RAD51C PALB2
6 maternal uniparental disomy 10.3 SLX4 FANCA
7 maternal uniparental disomy of chromosome 16 10.3 SLX4 FANCA
8 cerebro-oculo-facio-skeletal syndrome 10.2 ERCC6 ERCC4
9 xfe progeroid syndrome 10.2 SLX4 ERCC6 ERCC4
10 vacterl with hydrocephalus 10.2 FANCL FANCB
11 vacterl association, x-linked, with or without hydrocephalus 10.1 FANCL FANCB
12 pituitary stalk interruption syndrome 10.1 FANCG FANCD2 FANCA
13 vacterl association 10.0 FANCL FANCI FANCB
14 peliosis hepatis 10.0 FANCG FANCC FANCA
15 nijmegen breakage syndrome 9.9 FANCF FANCD2 FANCB
16 bloom syndrome 9.9 FANCM FANCC FANCA
17 ovarian cancer 9.9
18 hutchinson-gilford progeria syndrome 9.9
19 cockayne syndrome 9.9
20 tracheoesophageal fistula with or without esophageal atresia 9.9 PALB2 FANCC
21 fanconi anemia, complementation group l 9.9 UBE2T FANCL FANCI FANCD2
22 peritoneum cancer 9.9 RAD51C PALB2
23 dyskeratosis congenita 9.8 SLX4 FANCD2 FANCC FANCA
24 pancytopenia 9.8 FANCG FANCC FANCA
25 breast-ovarian cancer, familial 1 9.8 RAD51C PALB2
26 sporadic breast cancer 9.7 RAD51C PALB2 FANCF FANCD2
27 fallopian tube disease 9.7 RAD51C PALB2
28 hereditary breast ovarian cancer syndrome 9.7 RAD51C PALB2 FANCM FANCG
29 fanconi anemia, complementation group i 9.6 FANCM FANCL FANCI FANCF FANCD2 FANCA
30 fanconi anemia, complementation group e 9.5 FANCG FANCF FANCE FANCD2 FANCC FANCA
31 fanconi anemia, complementation group f 9.5 FANCG FANCF FANCE FANCD2 FANCC FANCA
32 microcephaly 9.5 SLX4 RAD51C FANCI FANCE FANCA ERCC6
33 xeroderma pigmentosum, complementation group g 9.4 SLX4 SLX1B SLX1A ERCC6 ERCC4
34 interstitial nephritis, karyomegalic 9.4 SLX4 SLX1B SLX1A FANCI FANCD2
35 squamous cell carcinoma, head and neck 9.4 FANCL FANCG FANCF FANCE FANCD2 FANCC
36 fanconi anemia, complementation group b 9.2 FANCL FANCG FANCF FANCE FANCD2 FANCC
37 fanconi anemia, complementation group c 9.1 UBE2T FANCL FANCI FANCF FANCD2 FANCC
38 fanconi anemia, complementation group v 9.0 UBE2T SLX4 FANCM FANCL FANCI FANCG
39 esophageal atresia 8.9 FANCM FANCL FANCI FANCG FANCF FANCE
40 fanconi anemia, complementation group u 8.9 UBE2T SLX4 RAD51C FANCM FANCL FANCI
41 seckel syndrome 8.8 SLX1B SLX1A FANCM FANCL FANCI FANCE
42 fanconi anemia, complementation group d2 8.6 UBE2T FANCM FANCL FANCI FANCG FANCF
43 fanconi anemia, complementation group t 8.4 UBE2T SLX4 FANCM FANCL FANCI FANCG
44 aplastic anemia 8.2 SLX4 RAD51C PALB2 FANCM FANCL FANCI
45 fanconi anemia, complementation group j 8.2 SLX4 RAD51C PALB2 FANCM FANCL FANCI
46 fanconi anemia, complementation group r 7.9 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
47 fanconi anemia, complementation group o 7.9 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
48 fanconi anemia, complementation group n 7.9 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
49 fanconi anemia, complementation group d1 7.9 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 microcephaly 31 HP:0000252
2 short stature 31 HP:0004322
3 low-set ears 31 HP:0000369
4 esophageal atresia 31 HP:0002032
5 bone marrow hypocellularity 31 HP:0005528
6 absent thumb 31 HP:0009777
7 biliary atresia 31 HP:0005912
8 chromosome breakage 31 HP:0040012

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
microcephaly

Head And Neck Ears:
low-set ears

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 (Updated 05-Apr-2021)

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 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.96 ERCC4 ERCC6 FANCA FANCD2 PALB2 UBE2T
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.96 ERCC4 ERCC6 FANCA FANCD2 FANCM PALB2
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.96 ERCC4 ERCC6 FANCA FANCD2 UBE2T FANCC
4 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 9.65 FANCM
5 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 9.65 FANCA FANCD2 FANCM PALB2 UBE2T
6 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.65 FANCA FANCM PALB2 UBE2T

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 ERCC4 ERCC6 FANCA FANCB FANCC FANCD2
2 endocrine/exocrine gland MP:0005379 9.9 FANCA FANCB FANCC FANCD2 FANCE FANCF
3 neoplasm MP:0002006 9.43 ERCC6 FANCA FANCD2 FANCF FANCM PALB2
4 reproductive system MP:0005389 9.4 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 Marrow, Bone, Breast

Publications for Fanconi Anemia, Complementation Group Q

Articles related to Fanconi Anemia, Complementation Group Q:

(show all 28)
# Title Authors PMID Year
1
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. 57 6
23623386 2013
2
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes. 61 6
29105242 2018
3
Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF. 61 6
29325523 2018
4
Physical interaction between SLX4 (FANCP) and XPF (FANCQ) proteins and biological consequences of interaction-defective missense mutations. 61 6
26453996 2015
5
Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders. 6
30658521 2019
6
Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features. 6
30165384 2018
7
Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F. 6
29892709 2018
8
Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations. 6
29403087 2018
9
Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50. 6
28678401 2017
10
Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma. 6
28767289 2017
11
Recruitment and positioning determine the specific role of the XPF-ERCC1 endonuclease in interstrand crosslink repair. 6
28292785 2017
12
Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea. 6
28431612 2017
13
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias. 6
27528516 2016
14
Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. 6
27356891 2016
15
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 6
26884178 2016
16
The ERCC1 and ERCC4 (XPF) genes and gene products. 6
26074087 2015
17
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 6
23623389 2013
18
Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease. 6
21612988 2011
19
Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients. 6
20221251 2010
20
Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms. 6
9580660 1998
21
Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. 6
9579555 1998
22
Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. 6
8797827 1996
23
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients. 61
32235514 2020
24
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
25
The Simple Chordate Ciona intestinalis Has a Reduced Complement of Genes Associated with Fanconi Anemia. 61
27279728 2016
26
Fanconi anemia and the development of leukemia. 61
25455269 2014
27
Mutation analysis of the ERCC4/FANCQ gene in hereditary breast cancer. 61
24465539 2014
28
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 182)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERCC4 NM_005236.2(ERCC4):c.2065C>A (p.Arg689Ser) SNV Pathogenic 55824 rs149364215 GRCh37: 16:14041518-14041518
GRCh38: 16:13947661-13947661
2 ERCC4 NM_005236.2(ERCC4):c.689T>C (p.Leu230Pro) SNV Pathogenic 55826 rs397509402 GRCh37: 16:14021989-14021989
GRCh38: 16:13928132-13928132
3 ERCC4 NM_005236.2(ERCC4):c.1484_1488del (p.Thr495fs) Deletion Pathogenic 55823 rs397509400 GRCh37: 16:14029271-14029275
GRCh38: 16:13935414-13935418
4 ERCC4 NM_005236.2(ERCC4):c.1731del (p.Arg576_Tyr577insTer) Deletion Pathogenic 541251 rs1555468482 GRCh37: 16:14029520-14029520
GRCh38: 16:13935663-13935663
5 ERCC4 NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp) SNV Pathogenic 55829 rs147105770 GRCh37: 16:14029554-14029554
GRCh38: 16:13935697-13935697
6 ERCC4 NC_000016.10:g.(?_13920156)_(13948357_?)del Deletion Pathogenic 661743 GRCh37: 16:14014013-14042214
GRCh38: 16:13920156-13948357
7 ERCC4 NC_000016.10:g.(?_13928022)_(13928241_?)del Deletion Pathogenic 541254 GRCh37: 16:14021879-14022098
GRCh38: 16:13928022-13928241
8 ERCC4 NM_005236.3(ERCC4):c.1882_1885del (p.Glu628fs) Deletion Pathogenic 964961 GRCh37: 16:14031690-14031693
GRCh38: 16:13937833-13937836
9 ERCC4 NM_005236.3(ERCC4):c.793-2A>G SNV Pathogenic 942911 GRCh37: 16:14024565-14024565
GRCh38: 16:13930708-13930708
10 ERCC4 NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) SNV Pathogenic 16580 rs121913049 GRCh37: 16:14041848-14041848
GRCh38: 16:13947991-13947991
11 ERCC4 NM_005236.2(ERCC4):c.2371_2398dup (p.Ile800fs) Duplication Pathogenic 55825 rs397509401 GRCh37: 16:14041823-14041824
GRCh38: 16:13947966-13947967
12 ERCC4 NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp) SNV Likely pathogenic 55829 rs147105770 GRCh37: 16:14029554-14029554
GRCh38: 16:13935697-13935697
13 ERCC4 NM_005236.3(ERCC4):c.580_584+1del Deletion Likely pathogenic 840550 GRCh37: 16:14020607-14020612
GRCh38: 16:13926750-13926755
14 ERCC4 NM_005236.2(ERCC4):c.2065C>A (p.Arg689Ser) SNV Likely pathogenic 55824 rs149364215 GRCh37: 16:14041518-14041518
GRCh38: 16:13947661-13947661
15 ERCC4 NM_005236.3(ERCC4):c.1019G>A (p.Arg340Gln) SNV Uncertain significance 861612 GRCh37: 16:14026059-14026059
GRCh38: 16:13932202-13932202
16 ERCC4 NM_005236.3(ERCC4):c.2735G>A (p.Gly912Glu) SNV Uncertain significance 864275 GRCh37: 16:14042188-14042188
GRCh38: 16:13948331-13948331
17 ERCC4 NM_005236.3(ERCC4):c.1691A>G (p.Tyr564Cys) SNV Uncertain significance 841845 GRCh37: 16:14029480-14029480
GRCh38: 16:13935623-13935623
18 ERCC4 NM_005236.3(ERCC4):c.2176C>T (p.Arg726Cys) SNV Uncertain significance 843239 GRCh37: 16:14041629-14041629
GRCh38: 16:13947772-13947772
19 ERCC4 NM_005236.3(ERCC4):c.2474C>T (p.Ala825Val) SNV Uncertain significance 852153 GRCh37: 16:14041927-14041927
GRCh38: 16:13948070-13948070
20 ERCC4 NM_005236.3(ERCC4):c.26G>C (p.Arg9Pro) SNV Uncertain significance 854210 GRCh37: 16:14014048-14014048
GRCh38: 16:13920191-13920191
21 ERCC4 NM_005236.3(ERCC4):c.2534A>G (p.Asn845Ser) SNV Uncertain significance 855385 GRCh37: 16:14041987-14041987
GRCh38: 16:13948130-13948130
22 ERCC4 NM_005236.3(ERCC4):c.751G>A (p.Asp251Asn) SNV Uncertain significance 858142 GRCh37: 16:14022051-14022051
GRCh38: 16:13928194-13928194
23 ERCC4 NC_000016.10:g.(?_13821951)_(13937868_?)dup Duplication Uncertain significance 830517 GRCh37: 16:13915808-14031725
GRCh38:
24 ERCC4 NM_005236.3(ERCC4):c.499A>G (p.Asn167Asp) SNV Uncertain significance 837122 GRCh37: 16:14020528-14020528
GRCh38: 16:13926671-13926671
25 ERCC4 NM_005236.3(ERCC4):c.389-9C>A SNV Uncertain significance 838117 GRCh37: 16:14020409-14020409
GRCh38: 16:13926552-13926552
26 ERCC4 NM_005236.2(ERCC4):c.413G>A (p.Arg138Lys) SNV Uncertain significance 566287 rs1567243693 GRCh37: 16:14020442-14020442
GRCh38: 16:13926585-13926585
27 ERCC4 NM_005236.2(ERCC4):c.19G>A (p.Ala7Thr) SNV Uncertain significance 568412 rs771117594 GRCh37: 16:14014041-14014041
GRCh38: 16:13920184-13920184
28 ERCC4 NM_005236.2(ERCC4):c.1045G>A (p.Ala349Thr) SNV Uncertain significance 573650 rs201410515 GRCh37: 16:14026085-14026085
GRCh38: 16:13932228-13932228
29 ERCC4 NM_005236.2(ERCC4):c.890A>G (p.Tyr297Cys) SNV Uncertain significance 575691 rs996851583 GRCh37: 16:14024664-14024664
GRCh38: 16:13930807-13930807
30 ERCC4 NM_005236.2(ERCC4):c.1787C>A (p.Ala596Glu) SNV Uncertain significance 662825 rs751782722 GRCh37: 16:14029576-14029576
GRCh38: 16:13935719-13935719
31 ERCC4 NM_005236.2(ERCC4):c.2169C>A (p.Cys723Ter) SNV Uncertain significance 664022 rs2020959 GRCh37: 16:14041622-14041622
GRCh38: 16:13947765-13947765
32 ERCC4 NM_005236.2(ERCC4):c.703G>A (p.Ala235Thr) SNV Uncertain significance 646508 rs141101671 GRCh37: 16:14022003-14022003
GRCh38: 16:13928146-13928146
33 ERCC4 NM_005236.2(ERCC4):c.2603A>G (p.His868Arg) SNV Uncertain significance 646565 rs368064765 GRCh37: 16:14042056-14042056
GRCh38: 16:13948199-13948199
34 ERCC4 NM_005236.2(ERCC4):c.2186T>C (p.Ile729Thr) SNV Uncertain significance 647874 rs375860375 GRCh37: 16:14041639-14041639
GRCh38: 16:13947782-13947782
35 ERCC4 NM_005236.2(ERCC4):c.1681A>T (p.Ser561Cys) SNV Uncertain significance 653625 rs1443581940 GRCh37: 16:14029470-14029470
GRCh38: 16:13935613-13935613
36 ERCC4 NM_005236.2(ERCC4):c.2295G>T (p.Lys765Asn) SNV Uncertain significance 653697 rs1567253853 GRCh37: 16:14041748-14041748
GRCh38: 16:13947891-13947891
37 ERCC4 NM_005236.2(ERCC4):c.2423C>G (p.Ala808Gly) SNV Uncertain significance 655804 rs746576915 GRCh37: 16:14041876-14041876
GRCh38: 16:13948019-13948019
38 ERCC4 NM_005236.2(ERCC4):c.790A>G (p.Lys264Glu) SNV Uncertain significance 656025 rs1463126902 GRCh37: 16:14022090-14022090
GRCh38: 16:13928233-13928233
39 ERCC4 NM_005236.2(ERCC4):c.2177G>A (p.Arg726His) SNV Uncertain significance 658680 rs368096448 GRCh37: 16:14041630-14041630
GRCh38: 16:13947773-13947773
40 ERCC4 NM_005236.2(ERCC4):c.2591G>A (p.Arg864His) SNV Uncertain significance 541245 rs1211543560 GRCh37: 16:14042044-14042044
GRCh38: 16:13948187-13948187
41 ERCC4 NM_005236.2(ERCC4):c.714G>A (p.Lys238=) SNV Uncertain significance 541247 rs780166871 GRCh37: 16:14022014-14022014
GRCh38: 16:13928157-13928157
42 ERCC4 NM_005236.2(ERCC4):c.875G>A (p.Arg292Gln) SNV Uncertain significance 541248 rs202243691 GRCh37: 16:14024649-14024649
GRCh38: 16:13930792-13930792
43 ERCC4 NM_005236.2(ERCC4):c.1633G>A (p.Gly545Arg) SNV Uncertain significance 541249 rs773007457 GRCh37: 16:14029422-14029422
GRCh38: 16:13935565-13935565
44 ERCC4 NM_005236.2(ERCC4):c.1265A>T (p.Asp422Val) SNV Uncertain significance 541250 rs767408205 GRCh37: 16:14029054-14029054
GRCh38: 16:13935197-13935197
45 ERCC4 NM_005236.2(ERCC4):c.2125G>A (p.Val709Met) SNV Uncertain significance 474203 rs373906926 GRCh37: 16:14041578-14041578
GRCh38: 16:13947721-13947721
46 ERCC4 NM_005236.3(ERCC4):c.1979C>T (p.Thr660Ile) SNV Uncertain significance 930972 GRCh37: 16:14038654-14038654
GRCh38: 16:13944797-13944797
47 ERCC4 NM_005236.2(ERCC4):c.889T>A (p.Tyr297Asn) SNV Uncertain significance 408563 rs778480216 GRCh37: 16:14024663-14024663
GRCh38: 16:13930806-13930806
48 ERCC4 NM_005236.2(ERCC4):c.41C>T (p.Pro14Leu) SNV Uncertain significance 408565 rs754622238 GRCh37: 16:14014063-14014063
GRCh38: 16:13920206-13920206
49 ERCC4 NM_005236.2(ERCC4):c.1212A>G (p.Pro404=) SNV Uncertain significance 408564 rs752193295 GRCh37: 16:14028158-14028158
GRCh38: 16:13934301-13934301
50 ERCC4 NM_005236.2(ERCC4):c.241G>A (p.Val81Ile) SNV Uncertain significance 408562 rs55761944 GRCh37: 16:14015921-14015921
GRCh38: 16:13922064-13922064

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

72
# 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
12.58 UBE2T SLX4 SLX1B SLX1A RAD51C PALB2
2
Show member pathways
12.53 FANCG FANCF FANCE FANCD2 FANCC FANCA
3 12.3 UBE2T FANCD2 FANCB FANCA ERCC4
4
Show member pathways
12.14 SLX4 SLX1B SLX1A RAD51C PALB2 ERCC4
5
Show member pathways
11.98 SLX4 SLX1B SLX1A RAD51C PALB2
6 11.85 UBE2T SLX4 SLX1B SLX1A RAD51C PALB2
7
Show member pathways
11.72 FANCL FANCG FANCF FANCE FANCD2 FANCC
8 11.16 FANCL FANCG FANCF FANCE FANCD2 FANCC
9 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 10.11 UBE2T SLX4 SLX1B SLX1A RAD51C PALB2
2 nucleoplasm GO:0005654 9.91 UBE2T SLX4 SLX1B SLX1A RAD51C PALB2
3 Slx1-Slx4 complex GO:0033557 9.43 SLX4 SLX1B SLX1A
4 Holliday junction resolvase complex GO:0048476 9.37 SLX4 RAD51C
5 ERCC4-ERCC1 complex GO:0070522 9.32 SLX4 ERCC4
6 Fanconi anaemia nuclear complex GO:0043240 9.23 FANCM FANCL FANCG FANCF FANCE FANCC

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 interstrand cross-link repair GO:0036297 10.03 UBE2T SLX4 SLX1B SLX1A FANCM FANCL
2 cellular response to DNA damage stimulus GO:0006974 9.91 UBE2T SLX4 SLX1B SLX1A RAD51C PALB2
3 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.83 SLX1B SLX1A FANCM ERCC4
4 DNA recombination GO:0006310 9.8 SLX4 SLX1B SLX1A RAD51C PALB2
5 double-strand break repair via homologous recombination GO:0000724 9.73 SLX4 SLX1B SLX1A RAD51C PALB2 ERCC4
6 nucleotide-excision repair GO:0006289 9.72 SLX4 FANCC ERCC4
7 gamete generation GO:0007276 9.69 FANCL FANCD2 FANCC
8 resolution of meiotic recombination intermediates GO:0000712 9.67 SLX4 FANCM ERCC4
9 t-circle formation GO:0090656 9.65 SLX4 SLX1B SLX1A
10 telomeric D-loop disassembly GO:0061820 9.63 SLX4 SLX1B SLX1A
11 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.62 SLX4 SLX1B SLX1A ERCC4
12 regulation of DNA-binding transcription factor activity GO:0051090 9.61 FANCD2 FANCA
13 DNA double-strand break processing involved in repair via single-strand annealing GO:0010792 9.61 SLX4 SLX1B SLX1A
14 response to gamma radiation GO:0010332 9.6 FANCD2 ERCC6
15 brain morphogenesis GO:0048854 9.59 FANCD2 FANCC
16 neuronal stem cell population maintenance GO:0097150 9.58 FANCD2 FANCC
17 regulation of regulatory T cell differentiation GO:0045589 9.58 FANCD2 FANCA
18 DNA repair GO:0006281 9.58 UBE2T SLX4 SLX1B SLX1A RAD51C PALB2
19 positive regulation of double-strand break repair via homologous recombination GO:1905168 9.57 FANCB ERCC6
20 telomere maintenance via telomere lengthening GO:0010833 9.56 SLX1B SLX1A
21 regulation of CD40 signaling pathway GO:2000348 9.54 FANCD2 FANCA
22 positive regulation of t-circle formation GO:1904431 9.54 SLX4 SLX1B SLX1A

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.33 UBE2T SLX4 SLX1B SLX1A RAD51C PALB2
2 nuclease activity GO:0004518 9.46 SLX1B SLX1A FANCM ERCC4
3 endonuclease activity GO:0004519 9.43 SLX1B SLX1A ERCC4
4 DNA polymerase binding GO:0070182 9.37 FANCI FANCD2
5 four-way junction DNA binding GO:0000400 9.32 RAD51C FANCM
6 5'-flap endonuclease activity GO:0017108 9.13 SLX4 SLX1B SLX1A
7 crossover junction endodeoxyribonuclease activity GO:0008821 8.92 SLX4 SLX1B SLX1A RAD51C

Sources for Fanconi Anemia, Complementation Group Q

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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