MCID: XRD031
MIFTS: 52

Xeroderma Pigmentosum, Complementation Group F

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group F

MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group F:

Name: Xeroderma Pigmentosum, Complementation Group F 57 40
Xeroderma Pigmentosum, Group F 57 29 13 6 73
Xeroderma Pigmentosum, Type F/cockayne Syndrome 57 29 6 73
Xeroderma Pigmentosum Vi 57 12 75
Xp6 57 12 75
Xeroderma Pigmentosum Group F 12 15
Xeroderma Pigmentosum, Type 6 76 53
Xp, Group F 57 55
Xp Group F 12 75
Xpf 57 12
Xeroderma Pigmentosum Type F/cockayne Syndrome 75
Xeroderma Pigmentosum Complementation Group F 75
Xeroderma Pigmentosum Vi; Xp6 57
Xpf/cs 75
Xp-F 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
one patient with additional features of fanconi anemia has been reported


HPO:

32
xeroderma pigmentosum, complementation group f:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Xeroderma Pigmentosum, Complementation Group F

UniProtKB/Swiss-Prot : 75 Xeroderma pigmentosum complementation group F: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-F patients show a mild phenotype. Xeroderma pigmentosum type F/Cockayne syndrome: A variant form of Cockayne syndrome, a disorder characterized by growth retardation, microcephaly, impairment of nervous system development, pigmentary retinopathy, peculiar facies, and progeria together with abnormal skin photosensitivity. Cockayne syndrome dermatological features are milder than those in xeroderma pigmentosum and skin cancers are not found in affected individuals. XPF/CS patients, however, present with severe skin phenotypes, including severe photosensitivity, abnormal skin pigmentation, and skin cancer predisposition.

MalaCards based summary : Xeroderma Pigmentosum, Complementation Group F, also known as xeroderma pigmentosum, group f, is related to xeroderma pigmentosum, complementation group a and xeroderma pigmentosum, variant type. An important gene associated with Xeroderma Pigmentosum, Complementation Group F is ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit), and among its related pathways/superpathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Chks in Checkpoint Regulation. Affiliated tissues include skin, brain and eye, and related phenotypes are microcephaly and hearing impairment

Disease Ontology : 12 A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has material basis in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13.

OMIM : 57 Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by Kashiyama et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA (278700), and of Cockayne syndrome, see CSA (216400). (278760)

Wikipedia : 76 Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA... more...

Related Diseases for Xeroderma Pigmentosum, Complementation Group F

Diseases in the Xeroderma Pigmentosum, Complementation Group D family:

Xeroderma Pigmentosum, Complementation Group E Xeroderma Pigmentosum, Complementation Group F
Xeroderma Pigmentosum, Complementation Group G

Diseases related to Xeroderma Pigmentosum, Complementation Group F via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, complementation group a 31.3 ERCC1 XPA
2 xeroderma pigmentosum, variant type 25.7 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 RAD23B
3 xfe progeroid syndrome 10.3 ERCC1 ERCC4
4 gastric cancer 10.3
5 glioma 10.3
6 aceruloplasminemia 10.1
7 ataxia-oculomotor apraxia 3 10.1
8 cerebrooculofacioskeletal syndrome 1 9.8 ERCC2 ERCC5
9 cockayne syndrome b 9.7 ERCC2 XPA
10 cockayne syndrome a 9.6 ERCC2 ERCC4 ERCC5
11 autosomal recessive disease 9.6 ERCC1 ERCC2 XPA
12 diffuse gastric cancer 9.6 ERCC1 ERCC2 XRCC3
13 acoustic neuroma 9.6 ERCC2 ERCC4 ERCC5
14 xeroderma pigmentosum, complementation group b 9.5 ERCC1 ERCC2 RAD23B XPA
15 xeroderma pigmentosum, complementation group c 9.5 DDB2 RAD23B XPA
16 cerebro-oculo-facio-skeletal syndrome 9.4 ERCC1 ERCC2 ERCC4 ERCC5
17 trichothiodystrophy 1, photosensitive 9.3 ERCC1 ERCC2 ERCC5 XPA
18 xeroderma pigmentosum, complementation group e 9.3 DDB2 ERCC5 XPA
19 xeroderma pigmentosum group e 9.3 DDB2 ERCC1 RAD23B XPA
20 fanconi anemia, complementation group a 9.1 ERCC1 ERCC2 ERCC4 MUS81 SLX4
21 autosomal genetic disease 8.8 ERCC1 ERCC2 XPA XRCC1 XRCC3
22 mutagen sensitivity 8.8 ERCC2 RAD23B XPA XRCC1 XRCC3
23 basal cell carcinoma 8.7 ERCC1 ERCC2 XPA XRCC1 XRCC3
24 xeroderma pigmentosum, complementation group d 8.5 ERCC1 ERCC2 RAD23B XPA XRCC1 XRCC3
25 cockayne syndrome 8.1 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 XPA
26 xeroderma pigmentosum, complementation group g 7.4 DDB2 ERCC1 ERCC4 ERCC5 RAD23B XPA

Graphical network of the top 20 diseases related to Xeroderma Pigmentosum, Complementation Group F:



Diseases related to Xeroderma Pigmentosum, Complementation Group F

Symptoms & Phenotypes for Xeroderma Pigmentosum, Complementation Group F

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
hyperpigmentation
skin photosensitivity
numerous pigmented freckles
seborrheic keratosis-like papules
rare skin cancers
more
Head And Neck Eyes:
nystagmus (in some patients)
deep-set eyes (in some patients)
astigmatism (in some patients)

Growth Height:
short stature (in some patients)

Skeletal:
joint contractures (in some patients)

Head And Neck Ears:
hearing impairment (in some patients)

Laboratory Abnormalities:
patient cells show defective transcription-coupled and global genome nucleotide excision repair (ner)

Neurologic Central Nervous System:
mental retardation (in some patients)
tremor (in some patients)
dementia (in some patients)
learning disabilities (in some patients)
ataxia (in some patients)
more
Skeletal Spine:
scoliosis (in some patients)

Head And Neck Head:
microcephaly (in some patients)

Growth Weight:
low weight (in some patients)

Neoplasia:
skin cancer susceptibility


Clinical features from OMIM:

278760

Human phenotypes related to Xeroderma Pigmentosum, Complementation Group F:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 occasional (7.5%) HP:0000252
2 hearing impairment 32 occasional (7.5%) HP:0000365
3 astigmatism 32 occasional (7.5%) HP:0000483
4 deeply set eye 32 occasional (7.5%) HP:0000490
5 nystagmus 32 occasional (7.5%) HP:0000639
6 dementia 32 occasional (7.5%) HP:0000726
7 cutaneous photosensitivity 32 HP:0000992
8 intellectual disability 32 occasional (7.5%) HP:0001249
9 ataxia 32 occasional (7.5%) HP:0001251
10 tremor 32 occasional (7.5%) HP:0001337
11 flexion contracture 32 occasional (7.5%) HP:0001371
12 morphological abnormality of the central nervous system 32 occasional (7.5%) HP:0002011
13 scoliosis 32 occasional (7.5%) HP:0002650
14 defective dna repair after ultraviolet radiation damage 32 HP:0003079
15 short stature 32 occasional (7.5%) HP:0004322
16 decreased body weight 32 occasional (7.5%) HP:0004325
17 numerous pigmented freckles 32 HP:0007587
18 neoplasm of the skin 32 occasional (7.5%) HP:0008069
19 brain atrophy 32 occasional (7.5%) HP:0012444
20 papule 32 HP:0200034

GenomeRNAi Phenotypes related to Xeroderma Pigmentosum, Complementation Group F 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 9.78 XRCC3 DDB2 EME1 ERCC1 ERCC4 ERCC5
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.78 XRCC1 XRCC3 DDB2 EME1 ERCC1 ERCC4
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.7 DDB2 EME1 ERCC1 ERCC2 ERCC4 ERCC5

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Complementation Group F:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.02 DDB2 ERCC1 ERCC2 ERCC4 MUS81 RAD23B
2 growth/size/body region MP:0005378 9.97 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 RAD23B
3 immune system MP:0005387 9.91 SLX4 XPA XRCC3 EME1 ERCC1 ERCC2
4 mortality/aging MP:0010768 9.7 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 MUS81
5 integument MP:0010771 9.63 DDB2 ERCC1 ERCC2 ERCC5 RAD23B XPA
6 neoplasm MP:0002006 9.1 DDB2 ERCC1 ERCC2 MUS81 XPA XRCC1

Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group F

Search Clinical Trials , NIH Clinical Center for Xeroderma Pigmentosum, Complementation Group F

Genetic Tests for Xeroderma Pigmentosum, Complementation Group F

Genetic tests related to Xeroderma Pigmentosum, Complementation Group F:

# Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Group F 29 ERCC4
2 Xeroderma Pigmentosum, Type F/cockayne Syndrome 29

Anatomical Context for Xeroderma Pigmentosum, Complementation Group F

MalaCards organs/tissues related to Xeroderma Pigmentosum, Complementation Group F:

41
Skin, Brain, Eye

Publications for Xeroderma Pigmentosum, Complementation Group F

Articles related to Xeroderma Pigmentosum, Complementation Group F:

(show all 14)
# Title Authors Year
1
Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea. ( 28431612 )
2017
2
Association of polymorphisms of the xeroderma pigmentosum complementation group F gene with increased glioma risk. ( 24938470 )
2014
3
A nonsense mutation in the Xeroderma pigmentosum complementation group F (XPF) gene is associated with gastric carcinogenesis. ( 24412486 )
2014
4
Effect of Xeroderma pigmentosum complementation group F polymorphisms and H.pylori infection on the risk of gastric cancer. ( 24353636 )
2013
5
Xeroderma pigmentosum complementation group f polymorphisms influence risk of glioma. ( 23991957 )
2013
6
Conservation of the nucleotide excision repair pathway: characterization of hydra Xeroderma Pigmentosum group F homolog. ( 23577191 )
2013
7
Effect of Xeroderma pigmentosum complementation group F polymorphisms on gastric cancer risk and associations with H.pylori infection. ( 23679285 )
2013
8
Xeroderma pigmentosum group F protein binds to Eg5 and is required for proper mitosis: implications for XP-F and XFE. ( 22353549 )
2012
9
1-Methyl-4-phenyl-pyridinium time-dependently alters expressions of oxoguanine glycosylase 1 and xeroderma pigmentosum group F protein in PC12 cells. ( 20101267 )
2010
10
Crystallization of the xeroderma pigmentosum group F endonuclease from Aeropyrum pernix. ( 15333947 )
2004
11
Defining the function of xeroderma pigmentosum group F protein in psoralen interstrand cross-link-mediated DNA repair and mutagenesis. ( 14728600 )
2004
12
Characterization of molecular defects in Xeroderma pigmentosum group F in relation to its clinically mild symptoms. ( 9580660 )
1998
13
Xeroderma pigmentosum group F caused by a defect in a structure- specific DNA repair endonuclease. ( 8797827 )
1996
14
Evidence for a repair enzyme complex involving ERCC1 and complementing activities of ERCC4, ERCC11 and xeroderma pigmentosum group F. ( 8253091 )
1993

Variations for Xeroderma Pigmentosum, Complementation Group F

UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Complementation Group F:

75 (show all 11)
# Symbol AA change Variation ID SNP ID
1 ERCC4 p.Arg799Trp VAR_005850 rs121913049
2 ERCC4 p.Ile225Met VAR_008200 rs764731249
3 ERCC4 p.Arg454Trp VAR_008201
4 ERCC4 p.Arg490Gln VAR_008202 rs912480692
5 ERCC4 p.Glu502Lys VAR_008203
6 ERCC4 p.Gly513Arg VAR_008204 rs769679311
7 ERCC4 p.Ile529Thr VAR_008205
8 ERCC4 p.Thr567Ala VAR_008206
9 ERCC4 p.Leu608Pro VAR_013398
10 ERCC4 p.Cys236Arg VAR_070087 rs397509403
11 ERCC4 p.Arg589Trp VAR_070088 rs147105770

ClinVar genetic disease variations for Xeroderma Pigmentosum, Complementation Group F:

6
(show top 50) (show all 86)
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC4 NM_005236.2(ERCC4): c.2304_2307delTCTC (p.Thr770Profs) deletion Pathogenic rs869025184 GRCh38 Chromosome 16, 13947900: 13947903
2 ERCC4 NM_005236.2(ERCC4): c.2304_2307delTCTC (p.Thr770Profs) deletion Pathogenic rs869025184 GRCh37 Chromosome 16, 14041757: 14041760
3 ERCC4 NM_005236.2(ERCC4): c.706T> C (p.Cys236Arg) single nucleotide variant Pathogenic rs397509403 GRCh37 Chromosome 16, 14022006: 14022006
4 ERCC4 NM_005236.2(ERCC4): c.706T> C (p.Cys236Arg) single nucleotide variant Pathogenic rs397509403 GRCh38 Chromosome 16, 13928149: 13928149
5 ERCC4 NM_005236.2(ERCC4): c.1730dupA (p.Tyr577Terfs) duplication Pathogenic rs397509404 GRCh37 Chromosome 16, 14029519: 14029519
6 ERCC4 NM_005236.2(ERCC4): c.1730dupA (p.Tyr577Terfs) duplication Pathogenic rs397509404 GRCh38 Chromosome 16, 13935662: 13935662
7 ERCC4 NM_005236.2(ERCC4): c.1765C> T (p.Arg589Trp) single nucleotide variant Likely pathogenic rs147105770 GRCh37 Chromosome 16, 14029554: 14029554
8 ERCC4 NM_005236.2(ERCC4): c.1765C> T (p.Arg589Trp) single nucleotide variant Likely pathogenic rs147105770 GRCh38 Chromosome 16, 13935697: 13935697
9 ERCC4 NM_005236.2(ERCC4): c.33C> T (p.Ala11=) single nucleotide variant Benign rs3136042 GRCh38 Chromosome 16, 13920198: 13920198
10 ERCC4 NM_005236.2(ERCC4): c.33C> T (p.Ala11=) single nucleotide variant Benign rs3136042 GRCh37 Chromosome 16, 14014055: 14014055
11 ERCC4 NM_005236.2(ERCC4): c.252C> T (p.Leu84=) single nucleotide variant Benign/Likely benign rs3136056 GRCh37 Chromosome 16, 14015932: 14015932
12 ERCC4 NM_005236.2(ERCC4): c.252C> T (p.Leu84=) single nucleotide variant Benign/Likely benign rs3136056 GRCh38 Chromosome 16, 13922075: 13922075
13 ERCC4 NM_005236.2(ERCC4): c.503C> G (p.Ala168Gly) single nucleotide variant Uncertain significance rs2020961 GRCh37 Chromosome 16, 14020532: 14020532
14 ERCC4 NM_005236.2(ERCC4): c.503C> G (p.Ala168Gly) single nucleotide variant Uncertain significance rs2020961 GRCh38 Chromosome 16, 13926675: 13926675
15 ERCC4 NM_005236.2(ERCC4): c.2463A> G (p.Pro821=) single nucleotide variant Conflicting interpretations of pathogenicity rs2020953 GRCh37 Chromosome 16, 14041916: 14041916
16 ERCC4 NM_005236.2(ERCC4): c.2463A> G (p.Pro821=) single nucleotide variant Conflicting interpretations of pathogenicity rs2020953 GRCh38 Chromosome 16, 13948059: 13948059
17 ERCC4 NM_005236.2(ERCC4): c.2655G> A (p.Thr885=) single nucleotide variant Benign/Likely benign rs16963255 GRCh38 Chromosome 16, 13948251: 13948251
18 ERCC4 NM_005236.2(ERCC4): c.2655G> A (p.Thr885=) single nucleotide variant Benign/Likely benign rs16963255 GRCh37 Chromosome 16, 14042108: 14042108
19 ERCC4 NM_005236.2(ERCC4): c.2724C> T (p.Val908=) single nucleotide variant Conflicting interpretations of pathogenicity rs3136225 GRCh38 Chromosome 16, 13948320: 13948320
20 ERCC4 NM_005236.2(ERCC4): c.2724C> T (p.Val908=) single nucleotide variant Conflicting interpretations of pathogenicity rs3136225 GRCh37 Chromosome 16, 14042177: 14042177
21 ERCC4 NM_005236.2(ERCC4): c.915delA (p.Asn308Ilefs) deletion Likely pathogenic rs772432152 GRCh37 Chromosome 16, 14024689: 14024689
22 ERCC4 NM_005236.2(ERCC4): c.915delA (p.Asn308Ilefs) deletion Likely pathogenic rs772432152 GRCh38 Chromosome 16, 13930832: 13930832
23 ERCC4 NM_005236.2(ERCC4): c.1284G> A (p.Ala428=) single nucleotide variant Uncertain significance rs3136151 GRCh38 Chromosome 16, 13935216: 13935216
24 ERCC4 NM_005236.2(ERCC4): c.1284G> A (p.Ala428=) single nucleotide variant Uncertain significance rs3136151 GRCh37 Chromosome 16, 14029073: 14029073
25 ERCC4 NM_005236.2(ERCC4): c.1884A> G (p.Glu628=) single nucleotide variant Benign/Likely benign rs2020958 GRCh37 Chromosome 16, 14031695: 14031695
26 ERCC4 NM_005236.2(ERCC4): c.1884A> G (p.Glu628=) single nucleotide variant Benign/Likely benign rs2020958 GRCh38 Chromosome 16, 13937838: 13937838
27 ERCC4 NM_005236.2(ERCC4): c.389-5C> T single nucleotide variant Benign rs377224276 GRCh38 Chromosome 16, 13926556: 13926556
28 ERCC4 NM_005236.2(ERCC4): c.389-5C> T single nucleotide variant Benign rs377224276 GRCh37 Chromosome 16, 14020413: 14020413
29 ERCC4 NM_005236.2(ERCC4): c.718C> T (p.Leu240=) single nucleotide variant Likely benign rs746904084 GRCh38 Chromosome 16, 13928161: 13928161
30 ERCC4 NM_005236.2(ERCC4): c.718C> T (p.Leu240=) single nucleotide variant Likely benign rs746904084 GRCh37 Chromosome 16, 14022018: 14022018
31 ERCC4 NM_005236.2(ERCC4): c.974-7_974-6invGT inversion Benign GRCh38 Chromosome 16, 13932150: 13932151
32 ERCC4 NM_005236.2(ERCC4): c.974-7_974-6invGT inversion Benign GRCh37 Chromosome 16, 14026007: 14026008
33 ERCC4 NM_005236.2(ERCC4): c.1446A> G (p.Glu482=) single nucleotide variant Benign rs114077770 GRCh38 Chromosome 16, 13935378: 13935378
34 ERCC4 NM_005236.2(ERCC4): c.1446A> G (p.Glu482=) single nucleotide variant Benign rs114077770 GRCh37 Chromosome 16, 14029235: 14029235
35 ERCC4 NM_005236.2(ERCC4): c.241G> A (p.Val81Ile) single nucleotide variant Uncertain significance rs55761944 GRCh38 Chromosome 16, 13922064: 13922064
36 ERCC4 NM_005236.2(ERCC4): c.241G> A (p.Val81Ile) single nucleotide variant Uncertain significance rs55761944 GRCh37 Chromosome 16, 14015921: 14015921
37 ERCC4 NM_005236.2(ERCC4): c.1677T> C (p.Gly559=) single nucleotide variant Likely benign rs776049363 GRCh38 Chromosome 16, 13935609: 13935609
38 ERCC4 NM_005236.2(ERCC4): c.1677T> C (p.Gly559=) single nucleotide variant Likely benign rs776049363 GRCh37 Chromosome 16, 14029466: 14029466
39 ERCC4 NM_005236.2(ERCC4): c.41C> T (p.Pro14Leu) single nucleotide variant Uncertain significance rs754622238 GRCh37 Chromosome 16, 14014063: 14014063
40 ERCC4 NM_005236.2(ERCC4): c.41C> T (p.Pro14Leu) single nucleotide variant Uncertain significance rs754622238 GRCh38 Chromosome 16, 13920206: 13920206
41 ERCC4 NM_005236.2(ERCC4): c.889T> A (p.Tyr297Asn) single nucleotide variant Uncertain significance rs778480216 GRCh37 Chromosome 16, 14024663: 14024663
42 ERCC4 NM_005236.2(ERCC4): c.889T> A (p.Tyr297Asn) single nucleotide variant Uncertain significance rs778480216 GRCh38 Chromosome 16, 13930806: 13930806
43 ERCC4 NM_005236.2(ERCC4): c.1212A> G (p.Pro404=) single nucleotide variant Uncertain significance rs752193295 GRCh37 Chromosome 16, 14028158: 14028158
44 ERCC4 NM_005236.2(ERCC4): c.1212A> G (p.Pro404=) single nucleotide variant Uncertain significance rs752193295 GRCh38 Chromosome 16, 13934301: 13934301
45 ERCC4 NM_005236.2(ERCC4): c.1899C> T (p.Leu633=) single nucleotide variant Likely benign rs954215121 GRCh37 Chromosome 16, 14031710: 14031710
46 ERCC4 NM_005236.2(ERCC4): c.1899C> T (p.Leu633=) single nucleotide variant Likely benign rs954215121 GRCh38 Chromosome 16, 13937853: 13937853
47 ERCC4 NM_005236.2(ERCC4): c.2046A> G (p.Gln682=) single nucleotide variant Likely benign rs565249189 GRCh38 Chromosome 16, 13947642: 13947642
48 ERCC4 NM_005236.2(ERCC4): c.2046A> G (p.Gln682=) single nucleotide variant Likely benign rs565249189 GRCh37 Chromosome 16, 14041499: 14041499
49 ERCC4 NM_005236.2(ERCC4): c.2427G> A (p.Thr809=) single nucleotide variant Conflicting interpretations of pathogenicity rs2020960 GRCh37 Chromosome 16, 14041880: 14041880
50 ERCC4 NM_005236.2(ERCC4): c.2427G> A (p.Thr809=) single nucleotide variant Conflicting interpretations of pathogenicity rs2020960 GRCh38 Chromosome 16, 13948023: 13948023

Expression for Xeroderma Pigmentosum, Complementation Group F

Search GEO for disease gene expression data for Xeroderma Pigmentosum, Complementation Group F.

Pathways for Xeroderma Pigmentosum, Complementation Group F

Pathways related to Xeroderma Pigmentosum, Complementation Group F according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.59 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 RAD23B
2
Show member pathways
12.52 ERCC1 ERCC2 ERCC4 ERCC5 RAD23B XPA
3
Show member pathways
12.41 DDB2 EME1 ERCC1 ERCC2 ERCC4 ERCC5
4 12.17 DDB2 ERCC1 ERCC2 ERCC4 RAD23B XPA
5
Show member pathways
12.1 EME1 ERCC1 ERCC4 MUS81 SLX4 XRCC3
6
Show member pathways
11.94 EME1 MUS81 SLX4 XRCC3
7 11.78 EME1 ERCC1 ERCC4 MUS81 SLX4
8
Show member pathways
11.56 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 RAD23B
9 11.2 ERCC1 ERCC2 ERCC4 XPA
10
Show member pathways
10.97 ERCC1 ERCC4

GO Terms for Xeroderma Pigmentosum, Complementation Group F

Cellular components related to Xeroderma Pigmentosum, Complementation Group F according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.73 DDB2 EME1 ERCC1 ERCC2 ERCC4 ERCC5
2 nuclear chromosome, telomeric region GO:0000784 9.72 ERCC1 ERCC4 SLX4 XRCC1 XRCC3
3 nuclear chromatin GO:0000790 9.67 EME1 SLX4 XRCC1
4 transcription factor TFIID complex GO:0005669 9.58 ERCC1 ERCC2 ERCC4
5 DNA replication factor A complex GO:0005662 9.48 ERCC5 XPA
6 holo TFIIH complex GO:0005675 9.46 ERCC2 ERCC5
7 nucleotide-excision repair complex GO:0000109 9.43 ERCC1 ERCC4
8 Holliday junction resolvase complex GO:0048476 9.43 EME1 MUS81 SLX4
9 nucleotide-excision repair factor 1 complex GO:0000110 9.33 ERCC1 ERCC4 XPA
10 ERCC4-ERCC1 complex GO:0070522 8.92 ERCC1 ERCC4 SLX4 XRCC1
11 nucleus GO:0005634 10.15 DDB2 EME1 ERCC1 ERCC2 ERCC4 ERCC5

Biological processes related to Xeroderma Pigmentosum, Complementation Group F according to GeneCards Suite gene sharing:

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 DNA recombination GO:0006310 9.98 EME1 ERCC1 MUS81 SLX4 XRCC3
2 transcription-coupled nucleotide-excision repair GO:0006283 9.97 ERCC1 ERCC2 ERCC4 ERCC5 XPA XRCC1
3 interstrand cross-link repair GO:0036297 9.95 EME1 ERCC1 ERCC4 MUS81 SLX4 XRCC3
4 cellular response to DNA damage stimulus GO:0006974 9.93 DDB2 EME1 ERCC1 ERCC2 ERCC4 ERCC5
5 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.92 EME1 ERCC1 ERCC4 MUS81
6 response to UV GO:0009411 9.92 DDB2 ERCC2 ERCC4 ERCC5 XPA
7 double-strand break repair via homologous recombination GO:0000724 9.91 ERCC4 SLX4 XRCC1 XRCC3
8 nucleotide-excision repair, preincision complex assembly GO:0006294 9.91 DDB2 ERCC2 ERCC5 RAD23B XPA
9 nucleotide-excision repair, DNA incision GO:0033683 9.91 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 XPA
10 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.88 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 XPA
11 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.85 DDB2 ERCC2 RAD23B XPA
12 UV protection GO:0009650 9.85 ERCC1 ERCC2 ERCC4 ERCC5 XPA
13 global genome nucleotide-excision repair GO:0070911 9.85 DDB2 ERCC1 ERCC2 ERCC4 RAD23B XPA
14 response to oxidative stress GO:0006979 9.84 ERCC1 ERCC2 XPA
15 resolution of meiotic recombination intermediates GO:0000712 9.84 EME1 ERCC4 MUS81 SLX4
16 multicellular organism growth GO:0035264 9.82 ERCC1 ERCC2 XPA
17 double-strand break repair via nonhomologous end joining GO:0006303 9.82 ERCC1 ERCC4 XRCC1
18 embryonic organ development GO:0048568 9.8 ERCC1 ERCC2 RAD23B
19 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.8 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 XPA
20 nucleotide-excision repair, DNA damage recognition GO:0000715 9.79 DDB2 RAD23B XPA
21 t-circle formation GO:0090656 9.77 ERCC1 SLX4 XRCC3
22 UV-damage excision repair GO:0070914 9.77 DDB2 ERCC1 XPA
23 response to intra-S DNA damage checkpoint signaling GO:0072429 9.75 EME1 MUS81 SLX4
24 telomeric DNA-containing double minutes formation GO:0061819 9.74 ERCC1 ERCC4 XRCC1
25 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.73 ERCC1 ERCC4 XRCC1
26 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.73 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 XPA
27 DNA repair GO:0006281 9.73 DDB2 EME1 ERCC1 ERCC2 ERCC4 ERCC5
28 base-excision repair GO:0006284 9.67 XPA XRCC1
29 replication fork processing GO:0031297 9.67 EME1 MUS81
30 intra-S DNA damage checkpoint GO:0031573 9.66 EME1 MUS81
31 mitotic recombination GO:0006312 9.65 ERCC1 XRCC3
32 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.65 ERCC4 SLX4
33 positive regulation of t-circle formation GO:1904431 9.64 ERCC1 SLX4
34 negative regulation of telomere maintenance GO:0032205 9.63 ERCC1 ERCC4
35 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.62 ERCC4 XPA
36 nucleotide-excision repair GO:0006289 9.23 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 RAD23B

Molecular functions related to Xeroderma Pigmentosum, Complementation Group F according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 nuclease activity GO:0004518 9.8 EME1 ERCC1 ERCC4 ERCC5 MUS81
2 single-stranded DNA binding GO:0003697 9.77 ERCC1 ERCC4 ERCC5 RAD23B XRCC3
3 endonuclease activity GO:0004519 9.72 EME1 ERCC1 ERCC4 ERCC5 MUS81
4 protein C-terminus binding GO:0008022 9.71 ERCC1 ERCC2 ERCC4
5 protein N-terminus binding GO:0047485 9.69 ERCC2 ERCC4 ERCC5
6 DNA-dependent ATPase activity GO:0008094 9.56 ERCC2 XRCC3
7 TFIID-class transcription factor binding GO:0001094 9.49 ERCC1 ERCC4
8 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.48 ERCC1 ERCC4
9 3-flap endonuclease activity GO:0048257 9.46 MUS81 SLX4
10 crossover junction endodeoxyribonuclease activity GO:0008821 9.46 EME1 MUS81 SLX4 XRCC3
11 3 overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.43 ERCC1 ERCC4 XRCC1
12 damaged DNA binding GO:0003684 9.43 DDB2 ERCC1 ERCC4 RAD23B XPA XRCC1
13 endodeoxyribonuclease activity GO:0004520 9.1 EME1 ERCC4 ERCC5 MUS81 SLX4 XRCC3
14 protein binding GO:0005515 10.33 DDB2 EME1 ERCC1 ERCC2 ERCC4 ERCC5
15 DNA binding GO:0003677 10.09 DDB2 EME1 ERCC1 ERCC2 ERCC4 ERCC5
16 hydrolase activity GO:0016787 10 EME1 ERCC1 ERCC2 ERCC4 ERCC5 MUS81

Sources for Xeroderma Pigmentosum, Complementation Group F

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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