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XPF
MCID: XRD031
MIFTS: 55

Xeroderma Pigmentosum, Complementation Group F (XPF)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group F

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MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group F:

Name: Xeroderma Pigmentosum, Complementation Group F 57 39
Xeroderma Pigmentosum, Group F 57 29 13 6 70
Xeroderma Pigmentosum, Type F/cockayne Syndrome 57 6 70
Xeroderma Pigmentosum Vi 57 12 72
Xp6 57 12 72
Xeroderma Pigmentosum Group F 12 15
Xp, Group F 57 54
Xp Group F 12 72
Xpf 57 12
Xeroderma Pigmentosum Type F/cockayne Syndrome 72
Xeroderma Pigmentosum Complementation Group F 72
Xeroderma Pigmentosum Vi; Xp6 57
Xeroderma Pigmentosum, Type 6 73
Xpf/cs 72
Xp-F 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
xeroderma pigmentosum, complementation group f:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Cancer diseases
Anatomical: Neuronal diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 32


Sources

Summaries for Xeroderma Pigmentosum, Complementation Group F

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UniProtKB/Swiss-Prot : 72 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 xfe progeroid syndrome and xeroderma pigmentosum, complementation group a. 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 intellectual disability and scoliosis

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) (Updated 05-Apr-2021)

Wikipedia : 73 Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA... more...

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Related Diseases for Xeroderma Pigmentosum, Complementation Group F

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Diseases in the Xeroderma Pigmentosum, Complementation Group a family:

Xeroderma Pigmentosum, Complementation Group C Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group E Xeroderma Pigmentosum, Complementation Group F
Xeroderma Pigmentosum, Complementation Group G Xeroderma Pigmentosum, Complementation Group B

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

(show top 50) (show all 105)
# Related Disease Score Top Affiliating Genes
1 xfe progeroid syndrome 31.4 XPA SLX4 ERCC6 ERCC5 ERCC4 ERCC3
2 xeroderma pigmentosum, complementation group a 30.6 XPA RAD23B FEN1 ERCC6 ERCC2 ERCC1
3 hutchinson-gilford progeria syndrome 30.3 XPA ERCC6 ERCC4 ERCC1
4 basal cell carcinoma 30.0 XPA ERCC2 ERCC1 DDB2
5 skin carcinoma 29.9 XPA ERCC6 ERCC3 ERCC2 DDB2
6 fanconi anemia, complementation group q 29.5 SLX4 SLX1B SLX1A FANCM FANCD2 ERCC6
7 cerebro-oculo-facio-skeletal syndrome 29.5 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
8 cockayne syndrome 29.3 XPA FEN1 ERCC6 ERCC5 ERCC4 ERCC3
9 breast disease 29.3 RAD23B ERCC5 ERCC4 ERCC2
10 fanconi anemia, complementation group d2 29.2 FANCM FANCD2 FAAP24
11 xeroderma pigmentosum, complementation group c 29.1 XPA RAD23B LIG1 ERCC6 ERCC3 ERCC1
12 trichothiodystrophy 29.0 XPA ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
13 fanconi anemia, complementation group p 28.4 SLX4 SLX1B SLX1A FANCM FANCD2 FAAP24
14 xeroderma pigmentosum, complementation group b 28.3 XPA RAD23B LIG1 ERCC6 ERCC5 ERCC4
15 xeroderma pigmentosum, complementation group d 28.3 XPA RAD23B LIG1 ERCC6 ERCC5 ERCC4
16 fanconi anemia, complementation group a 27.1 XPA SLX4 SLX1B SLX1A MUS81 FEN1
17 xeroderma pigmentosum, complementation group g 27.0 XPA SLX4 SLX1B SLX1A RAD23B MUS81
18 xeroderma pigmentosum, variant type 26.6 XPA SLX4 SLX1B SLX1A RAD23B MUS81
19 gastric cancer 10.5
20 ataxia and polyneuropathy, adult-onset 10.4
21 chorea, childhood-onset, with psychomotor retardation 10.4
22 choreatic disease 10.4
23 glioma 10.4
24 glial tumor 10.4
25 helix syndrome 10.4
26 huntington disease 10.3
27 keratosis, seborrheic 10.3
28 polyneuropathy 10.3
29 keratosis 10.3
30 bile duct cancer 10.3
31 inverted follicular keratosis 10.3
32 cerebral atrophy 10.3
33 deficiency anemia 10.2
34 photoparoxysmal response 1 10.2 XPA ERCC6 ERCC1
35 parkinson disease, late-onset 10.2
36 hair disease 10.2
37 bladder cancer 10.1
38 squamous cell carcinoma 10.1
39 xeroderma pigmentosum, complementation group e 10.1 XPA ERCC5 DDB2
40 gastroesophageal adenocarcinoma 10.0 XPA ERCC2 ERCC1
41 colorectal cancer 10.0
42 ovarian cancer 10.0
43 progeroid syndrome 10.0
44 mutagen sensitivity 10.0 XPA RAD23B ERCC2
45 trichothiodystrophy 1, photosensitive 10.0 ERCC6 ERCC3 ERCC2
46 rothmund-thomson syndrome, type 2 10.0 MUS81 FEN1 ERCC6
47 cockayne syndrome b 10.0 ERCC6 ERCC1
48 lung cancer 9.9
49 squamous cell carcinoma, head and neck 9.9
50 lung cancer susceptibility 1 9.9

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



Diseases related to Xeroderma Pigmentosum, Complementation Group F
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Symptoms & Phenotypes for Xeroderma Pigmentosum, Complementation Group F

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Human phenotypes related to Xeroderma Pigmentosum, Complementation Group F:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 occasional (7.5%) HP:0001249
2 scoliosis 31 occasional (7.5%) HP:0002650
3 nystagmus 31 occasional (7.5%) HP:0000639
4 ataxia 31 occasional (7.5%) HP:0001251
5 tremor 31 occasional (7.5%) HP:0001337
6 hearing impairment 31 occasional (7.5%) HP:0000365
7 microcephaly 31 occasional (7.5%) HP:0000252
8 short stature 31 occasional (7.5%) HP:0004322
9 flexion contracture 31 occasional (7.5%) HP:0001371
10 deeply set eye 31 occasional (7.5%) HP:0000490
11 decreased body weight 31 occasional (7.5%) HP:0004325
12 astigmatism 31 occasional (7.5%) HP:0000483
13 dementia 31 occasional (7.5%) HP:0000726
14 brain atrophy 31 occasional (7.5%) HP:0012444
15 morphological central nervous system abnormality 31 occasional (7.5%) HP:0002011
16 cutaneous photosensitivity 31 HP:0000992
17 papule 31 HP:0200034
18 numerous pigmented freckles 31 HP:0007587
19 seborrheic keratosis 31 HP:0031287
20 defective dna repair after ultraviolet radiation damage 31 HP:0003079

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin:
numerous pigmented freckles
plantar warts
hyperpigmentation
skin photosensitivity
seborrheic keratosis-like papules
more
Head And Neck Eyes:
nystagmus (in some patients)
astigmatism (in some patients)
deep-set eyes (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 (Updated 05-Apr-2021)

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 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 10.11 DDB2 ERCC1 FANCM FEN1 LIG1
2 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 10.11 DDB2 ERCC1 ERCC5 FANCD2 FANCM FEN1
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.11 DDB2 ERCC1 ERCC5 FANCM LIG1 MUS81
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.05 DDB2 EME1 ERCC4 ERCC5 ERCC6 FANCD2
5 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.05 DDB2 EME1 ERCC1 ERCC4 ERCC5 ERCC6
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.05 DDB2 EME1 ERCC1 ERCC4 ERCC5 ERCC6
7 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.5 DDB2 EME1 ERCC3 ERCC4 ERCC6 FEN1

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

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.37 DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6
2 growth/size/body region MP:0005378 10.27 DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
3 homeostasis/metabolism MP:0005376 10.25 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
4 endocrine/exocrine gland MP:0005379 10.18 ERCC1 ERCC2 ERCC3 FANCD2 FANCM FEN1
5 hematopoietic system MP:0005397 10.17 EME1 ERCC1 ERCC2 ERCC5 ERCC6 FANCD2
6 immune system MP:0005387 10.15 EME1 ERCC1 ERCC2 ERCC5 ERCC6 FANCD2
7 mortality/aging MP:0010768 10.03 DDB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
8 integument MP:0010771 9.97 DDB2 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
9 liver/biliary system MP:0005370 9.86 ERCC1 ERCC4 ERCC5 ERCC6 FANCM FEN1
10 neoplasm MP:0002006 9.7 DDB2 ERCC1 ERCC2 ERCC3 ERCC6 FANCD2
11 reproductive system MP:0005389 9.36 ERCC1 ERCC2 ERCC3 FANCD2 FANCM FEN1
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Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group F

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

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Genetic Tests for Xeroderma Pigmentosum, Complementation Group F

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Genetic tests related to Xeroderma Pigmentosum, Complementation Group F:

# Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Group F 29 ERCC4
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Anatomical Context for Xeroderma Pigmentosum, Complementation Group F

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

40
Skin, Brain, Eye, Lung, Bone, Salivary Gland, Breast
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Publications for Xeroderma Pigmentosum, Complementation Group F

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Articles related to Xeroderma Pigmentosum, Complementation Group F:

(show top 50) (show all 100)
# Title Authors PMID Year
1
Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms. 61 57 6
9580660 1998
2
Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. 6 57 61
8797827 1996
3
Xeroderma pigmentosum complementation group F in a non-Japanese patient. 61 57 6
3372781 1988
4
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 6 57
23623389 2013
5
Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. 57 6
9579555 1998
6
Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F. 6 61
29892709 2018
7
Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations. 6 61
29403087 2018
8
Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea. 61 6
28431612 2017
9
A case of xeroderma pigmentosum complementation group F with neurological abnormalities. 61 57
8427828 1993
10
Clinical and photobiological characteristics of xeroderma pigmentosum complementation group F: a review of cases from Japan. 61 57
2696553 1989
11
Human chromosome 15 confers partial complementation of phenotypes to xeroderma pigmentosum group F cells. 57 61
2929593 1989
12
A case of xeroderma pigmentosum group F with late onset of clinical symptoms. 61 57
3707166 1986
13
Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders. 6
30658521 2019
14
Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features. 6
30165384 2018
15
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes. 6
29105242 2018
16
Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF. 6
29325523 2018
17
Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50. 6
28678401 2017
18
Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma. 6
28767289 2017
19
Recruitment and positioning determine the specific role of the XPF-ERCC1 endonuclease in interstrand crosslink repair. 6
28292785 2017
20
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias. 6
27528516 2016
21
Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. 6
27356891 2016
22
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 6
26884178 2016
23
Physical interaction between SLX4 (FANCP) and XPF (FANCQ) proteins and biological consequences of interaction-defective missense mutations. 6
26453996 2015
24
The ERCC1 and ERCC4 (XPF) genes and gene products. 6
26074087 2015
25
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 6
24728327 2014
26
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. 6
23623386 2013
27
Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease. 6
21612988 2011
28
Carrier testing for severe childhood recessive diseases by next-generation sequencing. 6
21228398 2011
29
Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients. 6
20221251 2010
30
XPF nuclease-dependent telomere loss and increased DNA damage in mice overexpressing TRF2 result in premature aging and cancer. 57
16142233 2005
31
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 57
10447254 1999
32
Molecular cloning of the human nucleotide-excision-repair gene ERCC4. 57
8041709 1994
33
Regional mapping of human DNA excision repair gene ERCC4 to chromosome 16p13.13-p13.2. 57
8332082 1993
34
Xeroderma pigmentosum groups C and F: additional assignments and a review of the subjects in Japan. 57
3834095 1985
35
A DNA repair gene of Caenorhabditis elegans: a homolog of human XPF. 54 61
15336632 2004
36
Single-arm, open label prospective trial to assess prediction of the role of ERCC1/XPF complex in the response of advanced NSCLC patients to platinum-based chemotherapy. 61
33422766 2021
37
Chemical-Genetic Interactions of Bacopa monnieri Constituents in Cells Deficient for the DNA Repair Endonuclease RAD1 Appear Linked to Vacuolar Disruption. 61
33668176 2021
38
Modulation of DNA damage by XPF, XPG and ERCC1 gene polymorphisms in pesticide-exposed agricultural workers of Punjab, North-West India. 61
33551103 2021
39
XPF expression and its relationship with the risk and prognosis of colorectal cancer. 61
33407486 2021
40
DNA base excision repair and nucleotide excision repair proteins in malignant salivary gland tumors. 61
33202356 2021
41
Nucleotide Excision Repair, XPA-1, and the Translesion Synthesis Complex, POLZ-1 and REV-1, Are Critical for Interstrand Cross-Link Repair in Caenorhabditis elegans Germ Cells. 61
32945661 2020
42
Nanoparticle-Mediated Gene Silencing for Sensitization of Lung Cancer to Cisplatin Therapy. 61
32344513 2020
43
Self-assembled Lipid Nanoparticles for Ratiometric Codelivery of Cisplatin and siRNA Targeting XPF to Combat Drug Resistance in Lung Cancer. 61
30843348 2019
44
Impact of XPF rs2276466 polymorphism on cancer susceptibility: a meta-analysis. 61
31040199 2019
45
Regulation of Structure-Specific Endonucleases in Replication Stress. 61
30558228 2018
46
Correlation of xeroderma pigmentosum complementation group F expression with gastric cancer and prognosis. 61
30546430 2018
47
Targeting the DNA Repair Endonuclease ERCC1-XPF with Green Tea Polyphenol Epigallocatechin-3-Gallate (EGCG) and Its Prodrug to Enhance Cisplatin Efficacy in Human Cancer Cells. 61
30400270 2018
48
The age-related expression decline of ERCC1 and XPF for forensic age estimation: A preliminary study. 61
28486142 2017
49
Control of structure-specific endonucleases to maintain genome stability. 61
28327556 2017
50
MUS81 is associated with cell proliferation and cisplatin sensitivity in serous ovarian cancer. 61
27255997 2016
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Variations for Xeroderma Pigmentosum, Complementation Group F

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

6 (show top 50) (show all 331)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERCC4 NM_005236.2(ERCC4):c.706T>C (p.Cys236Arg) SNV Pathogenic 55827 rs397509403 GRCh37: 16:14022006-14022006
GRCh38: 16:13928149-13928149
2 ERCC4 NM_005236.2(ERCC4):c.2304_2307del Microsatellite Pathogenic 16579 rs869025184 GRCh37: 16:14041753-14041756
GRCh38: 16:13947896-13947899
3 ERCC4 NM_005236.2(ERCC4):c.1731del (p.Arg576_Tyr577insTer) Deletion Pathogenic 541251 rs1555468482 GRCh37: 16:14029520-14029520
GRCh38: 16:13935663-13935663
4 ERCC4 NC_000016.10:g.(?_13928022)_(13928241_?)del Deletion Pathogenic 541254 GRCh37: 16:14021879-14022098
GRCh38: 16:13928022-13928241
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 NM_005236.3(ERCC4):c.1882_1885del (p.Glu628fs) Deletion Pathogenic 964961 GRCh37: 16:14031690-14031693
GRCh38: 16:13937833-13937836
8 ERCC4 NM_005236.3(ERCC4):c.793-2A>G SNV Pathogenic 942911 GRCh37: 16:14024565-14024565
GRCh38: 16:13930708-13930708
9 ERCC4 NM_005236.3(ERCC4):c.1730dupA Duplication Pathogenic 55828 rs397509404 GRCh37: 16:14029518-14029519
GRCh38: 16:13935661-13935662
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_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) SNV Pathogenic 16580 rs121913049 GRCh37: 16:14041848-14041848
GRCh38: 16:13947991-13947991
12 ERCC4 NM_005236.2(ERCC4):c.2371_2398dup (p.Ile800fs) Duplication Likely pathogenic 55825 rs397509401 GRCh37: 16:14041823-14041824
GRCh38: 16:13947966-13947967
13 ERCC4 NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp) SNV Likely pathogenic 55829 rs147105770 GRCh37: 16:14029554-14029554
GRCh38: 16:13935697-13935697
14 ERCC4 NM_005236.3(ERCC4):c.580_584+1del Deletion Likely pathogenic 840550 GRCh37: 16:14020607-14020612
GRCh38: 16:13926750-13926755
15 ERCC4 NM_005236.2(ERCC4):c.2065C>A (p.Arg689Ser) SNV Likely pathogenic 55824 rs149364215 GRCh37: 16:14041518-14041518
GRCh38: 16:13947661-13947661
16 ERCC4 NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp) SNV Likely pathogenic 55829 rs147105770 GRCh37: 16:14029554-14029554
GRCh38: 16:13935697-13935697
17 ERCC4 NM_005236.3(ERCC4):c.*712A>G SNV Uncertain significance 888167 GRCh37: 16:14042916-14042916
GRCh38: 16:13949059-13949059
18 ERCC4 NM_005236.3(ERCC4):c.*2072T>G SNV Uncertain significance 888225 GRCh37: 16:14044276-14044276
GRCh38: 16:13950419-13950419
19 ERCC4 NM_005236.3(ERCC4):c.*2415A>G SNV Uncertain significance 888226 GRCh37: 16:14044619-14044619
GRCh38: 16:13950762-13950762
20 ERCC4 NM_005236.3(ERCC4):c.*3230C>G SNV Uncertain significance 888290 GRCh37: 16:14045434-14045434
GRCh38: 16:13951577-13951577
21 ERCC4 NM_005236.3(ERCC4):c.*3282C>G SNV Uncertain significance 888291 GRCh37: 16:14045486-14045486
GRCh38: 16:13951629-13951629
22 ERCC4 NM_005236.3(ERCC4):c.*3319G>A SNV Uncertain significance 888292 GRCh37: 16:14045523-14045523
GRCh38: 16:13951666-13951666
23 ERCC4 NM_005236.3(ERCC4):c.*3443G>A SNV Uncertain significance 888293 GRCh37: 16:14045647-14045647
GRCh38: 16:13951790-13951790
24 ERCC4 NM_005236.2(ERCC4):c.1284G>A (p.Ala428=) SNV Uncertain significance 317811 rs3136151 GRCh37: 16:14029073-14029073
GRCh38: 16:13935216-13935216
25 ERCC4 NM_005236.2(ERCC4):c.2292C>T (p.Ser764=) SNV Uncertain significance 317821 rs139406689 GRCh37: 16:14041745-14041745
GRCh38: 16:13947888-13947888
26 ERCC4 NM_005236.2(ERCC4):c.889T>A (p.Tyr297Asn) SNV Uncertain significance 408563 rs778480216 GRCh37: 16:14024663-14024663
GRCh38: 16:13930806-13930806
27 ERCC4 NM_005236.2(ERCC4):c.41C>T (p.Pro14Leu) SNV Uncertain significance 408565 rs754622238 GRCh37: 16:14014063-14014063
GRCh38: 16:13920206-13920206
28 ERCC4 NM_005236.2(ERCC4):c.1212A>G (p.Pro404=) SNV Uncertain significance 408564 rs752193295 GRCh37: 16:14028158-14028158
GRCh38: 16:13934301-13934301
29 ERCC4 NM_005236.2(ERCC4):c.241G>A (p.Val81Ile) SNV Uncertain significance 408562 rs55761944 GRCh37: 16:14015921-14015921
GRCh38: 16:13922064-13922064
30 ERCC4 NM_005236.2(ERCC4):c.2199C>T (p.Ile733=) SNV Uncertain significance 317819 rs372425414 GRCh37: 16:14041652-14041652
GRCh38: 16:13947795-13947795
31 ERCC4 NM_005236.3(ERCC4):c.145C>T (p.Leu49Phe) SNV Uncertain significance 884829 GRCh37: 16:14014167-14014167
GRCh38: 16:13920310-13920310
32 ERCC4 NM_005236.3(ERCC4):c.2514T>C (p.Leu838=) SNV Uncertain significance 884980 GRCh37: 16:14041967-14041967
GRCh38: 16:13948110-13948110
33 ERCC4 NM_005236.3(ERCC4):c.*1256G>C SNV Uncertain significance 885045 GRCh37: 16:14043460-14043460
GRCh38: 16:13949603-13949603
34 ERCC4 NM_005236.3(ERCC4):c.*2455G>T SNV Uncertain significance 885110 GRCh37: 16:14044659-14044659
GRCh38: 16:13950802-13950802
35 ERCC4 NM_005236.3(ERCC4):c.*2463C>G SNV Uncertain significance 885111 GRCh37: 16:14044667-14044667
GRCh38: 16:13950810-13950810
36 ERCC4 NM_005236.3(ERCC4):c.*2572C>G SNV Uncertain significance 885113 GRCh37: 16:14044776-14044776
GRCh38: 16:13950919-13950919
37 ERCC4 NM_005236.3(ERCC4):c.367A>G (p.Ile123Val) SNV Uncertain significance 885757 GRCh37: 16:14016047-14016047
GRCh38: 16:13922190-13922190
38 ERCC4 NM_005236.3(ERCC4):c.1488A>C (p.Gln496His) SNV Uncertain significance 885831 GRCh37: 16:14029277-14029277
GRCh38: 16:13935420-13935420
39 ERCC4 NM_005236.3(ERCC4):c.*106A>G SNV Uncertain significance 885893 GRCh37: 16:14042310-14042310
GRCh38: 16:13948453-13948453
40 ERCC4 NM_005236.3(ERCC4):c.*1288G>A SNV Uncertain significance 885956 GRCh37: 16:14043492-14043492
GRCh38: 16:13949635-13949635
41 ERCC4 NM_005236.3(ERCC4):c.*2825A>T SNV Uncertain significance 886030 GRCh37: 16:14045029-14045029
GRCh38: 16:13951172-13951172
42 ERCC4 NM_005236.3(ERCC4):c.*2849G>A SNV Uncertain significance 886031 GRCh37: 16:14045053-14045053
GRCh38: 16:13951196-13951196
43 ERCC4 NM_005236.3(ERCC4):c.*3965G>A SNV Uncertain significance 886089 GRCh37: 16:14046169-14046169
GRCh38: 16:13952312-13952312
44 ERCC4 NM_005236.3(ERCC4):c.1740T>G (p.Leu580=) SNV Uncertain significance 886832 GRCh37: 16:14029529-14029529
GRCh38: 16:13935672-13935672
45 ERCC4 NM_005236.3(ERCC4):c.*218A>G SNV Uncertain significance 886886 GRCh37: 16:14042422-14042422
GRCh38: 16:13948565-13948565
46 ERCC4 NM_005236.3(ERCC4):c.*411C>T SNV Uncertain significance 886887 GRCh37: 16:14042615-14042615
GRCh38: 16:13948758-13948758
47 ERCC4 NM_005236.3(ERCC4):c.*1915A>G SNV Uncertain significance 886961 GRCh37: 16:14044119-14044119
GRCh38: 16:13950262-13950262
48 ERCC4 NM_005236.3(ERCC4):c.*1981C>T SNV Uncertain significance 886962 GRCh37: 16:14044185-14044185
GRCh38: 16:13950328-13950328
49 ERCC4 NM_005236.3(ERCC4):c.*2892C>G SNV Uncertain significance 887024 GRCh37: 16:14045096-14045096
GRCh38: 16:13951239-13951239
50 ERCC4 NM_005236.3(ERCC4):c.12G>A (p.Gly4=) SNV Uncertain significance 887968 GRCh37: 16:14014034-14014034
GRCh38: 16:13920177-13920177

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

72 (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

Sources

Expression for Xeroderma Pigmentosum, Complementation Group F

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

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

# Super pathways Score Top Affiliating Genes
1
Transcription-Coupled Nucleotide Excision Repair (TC-NER) 65
Show member pathways
 12.84 XPA RAD23B LIG1 ERCC6 ERCC5 ERCC4
2
Chks in Checkpoint Regulation 63
Show member pathways
 12.6 XPA RAD23B LIG1 FEN1 FANCD2 ERCC6
3
DNA Double-Strand Break Repair 65
Show member pathways
 12.6 XPA SLX4 SLX1B SLX1A RAD23B MUS81
4
DNA Damage 4
12.49 XPA RAD23B FEN1 FANCD2 ERCC4 ERCC3
5
Homologous DNA Pairing and Strand Exchange 65
Show member pathways
 12.27 SLX4 SLX1B SLX1A MUS81 ERCC4 ERCC1
6
Resolution of D-loop Structures through Holliday Junction Intermediates 65
Show member pathways
 12.03 SLX4 SLX1B SLX1A MUS81 EME1
7
Nucleotide excision repair 36
Show member pathways
 11.92 XPA RAD23B LIG1 ERCC6 ERCC5 ERCC4
8
RNA Polymerase I Promoter Escape 65
Show member pathways
 11.7 ERCC6 ERCC3 ERCC2
9
Fanconi anemia pathway 65 36
11.62 SLX4 SLX1B SLX1A MUS81 FANCM FANCD2
10
Platinum Pathway, Pharmacokinetics/Pharmacodynamics 60
11.26 XPA ERCC6 ERCC4 ERCC3 ERCC2 ERCC1
Sources

GO Terms for Xeroderma Pigmentosum, Complementation Group F

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.93 XPA SLX4 SLX1B SLX1A RAD23B MUS81
2 chromosome, telomeric region GO:0000781 9.73 SLX4 FEN1 ERCC4 ERCC1
3 nucleoplasm GO:0005654 9.6 XPA SLX4 SLX1B SLX1A RAD23B MUS81
4 nucleotide-excision repair complex GO:0000109 9.58 ERCC5 ERCC4 ERCC1
5 Holliday junction resolvase complex GO:0048476 9.54 SLX4 MUS81 EME1
6 Fanconi anaemia nuclear complex GO:0043240 9.51 FANCM FAAP24
7 ERCC4-ERCC1 complex GO:0070522 9.5 SLX4 ERCC4 ERCC1
8 transcription factor TFIIH holo complex GO:0005675 9.49 ERCC3 ERCC2
9 DNA replication factor A complex GO:0005662 9.48 XPA ERCC5
10 transcription factor TFIIH core complex GO:0000439 9.46 ERCC3 ERCC2
11 Slx1-Slx4 complex GO:0033557 9.43 SLX4 SLX1B SLX1A
12 nucleotide-excision repair factor 1 complex GO:0000110 9.33 XPA ERCC4 ERCC1

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

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 nucleic acid phosphodiester bond hydrolysis GO:0090305 10.11 SLX1B SLX1A MUS81 FEN1 FANCM ERCC5
2 DNA recombination GO:0006310 10.08 SLX4 SLX1B SLX1A MUS81 LIG1 ERCC1
3 transcription-coupled nucleotide-excision repair GO:0006283 10.08 XPA LIG1 ERCC6 ERCC5 ERCC4 ERCC3
4 nucleotide-excision repair, DNA incision GO:0033683 10.05 XPA ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
5 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 10.04 XPA ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
6 response to UV GO:0009411 10.02 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 DDB2
7 double-strand break repair via homologous recombination GO:0000724 10 SLX4 SLX1B SLX1A FEN1 ERCC4
8 nucleotide-excision repair, preincision complex assembly GO:0006294 10 XPA RAD23B ERCC5 ERCC3 ERCC2 DDB2
9 global genome nucleotide-excision repair GO:0070911 9.98 XPA RAD23B ERCC4 ERCC3 ERCC2 ERCC1
10 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.97 XPA RAD23B ERCC3 ERCC2 DDB2
11 response to oxidative stress GO:0006979 9.96 ERCC6 ERCC3 ERCC2 ERCC1
12 resolution of meiotic recombination intermediates GO:0000712 9.96 SLX4 MUS81 FANCM ERCC4 EME1
13 UV protection GO:0009650 9.95 XPA FEN1 ERCC5 ERCC4 ERCC3 ERCC2
14 DNA duplex unwinding GO:0032508 9.94 FANCM ERCC6 ERCC3 ERCC2
15 cellular response to DNA damage stimulus GO:0006974 9.93 XPA SLX4 SLX1B SLX1A RAD23B MUS81
16 embryonic organ development GO:0048568 9.92 RAD23B ERCC3 ERCC2 ERCC1
17 base-excision repair GO:0006284 9.91 XPA LIG1 FEN1 ERCC6
18 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.91 XPA ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
19 nucleotide-excision repair GO:0006289 9.91 XPA SLX4 RAD23B ERCC5 ERCC4 ERCC3
20 t-circle formation GO:0090656 9.89 SLX4 SLX1B SLX1A ERCC1
21 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.88 SLX4 SLX1B SLX1A ERCC4
22 positive regulation of t-circle formation GO:1904431 9.87 SLX4 SLX1B SLX1A ERCC1
23 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.87 XPA ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
24 multicellular organism growth GO:0035264 9.86 ERCC6 ERCC2 ERCC1
25 double-strand break repair GO:0006302 9.85 FEN1 ERCC1 EME1
26 interstrand cross-link repair GO:0036297 9.85 SLX4 SLX1B SLX1A MUS81 FANCM FANCD2
27 transcription elongation from RNA polymerase I promoter GO:0006362 9.83 ERCC6 ERCC3 ERCC2
28 nucleotide-excision repair, DNA damage recognition GO:0000715 9.82 XPA RAD23B DDB2
29 intra-S DNA damage checkpoint GO:0031573 9.81 MUS81 FANCD2 EME1
30 UV-damage excision repair GO:0070914 9.81 XPA ERCC1 DDB2
31 telomeric D-loop disassembly GO:0061820 9.8 SLX4 SLX1B SLX1A
32 DNA double-strand break processing involved in repair via single-strand annealing GO:0010792 9.79 SLX4 SLX1B SLX1A
33 response to intra-S DNA damage checkpoint signaling GO:0072429 9.77 SLX4 MUS81 EME1
34 response to X-ray GO:0010165 9.69 ERCC6 ERCC1
35 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.69 ERCC6 ERCC1
36 telomere maintenance via telomere lengthening GO:0010833 9.68 SLX1B SLX1A
37 hair cell differentiation GO:0035315 9.68 ERCC3 ERCC2
38 pyrimidine dimer repair GO:0006290 9.67 ERCC6 DDB2
39 negative regulation of telomere maintenance GO:0032205 9.67 ERCC4 ERCC1
40 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.67 ERCC4 ERCC1
41 telomeric DNA-containing double minutes formation GO:0061819 9.66 ERCC4 ERCC1
42 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.65 XPA ERCC4
43 DNA repair GO:0006281 9.6 XPA SLX4 SLX1B SLX1A RAD23B MUS81

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.55 XPA SLX4 SLX1B SLX1A RAD23B MUS81
2 metal ion binding GO:0046872 10.3 XPA SLX4 SLX1B SLX1A MUS81 LIG1
3 hydrolase activity GO:0016787 10.15 SLX1B SLX1A MUS81 FEN1 FANCM ERCC6
4 DNA binding GO:0003677 10.13 XPA SLX4 MUS81 LIG1 FEN1 FANCM
5 protein C-terminus binding GO:0008022 9.85 ERCC6 ERCC4 ERCC3 ERCC2 ERCC1
6 helicase activity GO:0004386 9.83 FANCM ERCC6 ERCC3 ERCC2
7 single-stranded DNA binding GO:0003697 9.8 RAD23B ERCC5 ERCC4 ERCC1
8 protein N-terminus binding GO:0047485 9.8 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
9 endonuclease activity GO:0004519 9.76 SLX1B SLX1A MUS81 FEN1 ERCC5 ERCC4
10 DNA helicase activity GO:0003678 9.72 ERCC6 ERCC3 ERCC2
11 promoter-specific chromatin binding GO:1990841 9.71 ERCC4 ERCC3 ERCC1
12 5'-flap endonuclease activity GO:0017108 9.62 SLX4 SLX1B SLX1A FEN1
13 crossover junction endodeoxyribonuclease activity GO:0008821 9.61 SLX4 SLX1B SLX1A
14 nuclease activity GO:0004518 9.61 SLX1B SLX1A MUS81 FEN1 FANCM ERCC5
15 3'-5' DNA helicase activity GO:0043138 9.58 FANCM ERCC3
16 endodeoxyribonuclease activity GO:0004520 9.58 ERCC5 ERCC4
17 TFIID-class transcription factor complex binding GO:0001094 9.57 ERCC4 ERCC1
18 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.56 ERCC4 ERCC1
19 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.51 ERCC4 ERCC1
20 3'-flap endonuclease activity GO:0048257 9.48 SLX4 MUS81
21 damaged DNA binding GO:0003684 9.23 XPA RAD23B FEN1 ERCC4 ERCC3 ERCC2
Sources

Sources for Xeroderma Pigmentosum, Complementation Group F

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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