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XPG
MCID: XRD023
MIFTS: 53

Xeroderma Pigmentosum, Complementation Group G (XPG)

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 G

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MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group G:

Name: Xeroderma Pigmentosum, Complementation Group G 56 54 39
Xeroderma Pigmentosum, Group G 56 29 13 6 71
Xeroderma Pigmentosum Vii 56 12 73
Xp7 56 12 73
Xeroderma Pigmentosum Group G 12 15
Xp Group G 12 73
Xpg 56 12
Xeroderma Pigmentosum, Group G/cockayne Syndrome 56
Xeroderma Pigmentosum Group G/cockayne Syndrome 6
Xeroderma Pigmentosum Complementation Group G 73
Xeroderma Pigmentosum Vii; Xp7 56
Xeroderma Pigmentosum, Type 7 74
Xp, Group G; Xpgc 56
Xp, Group G 56
Xp-G/cs 73
Xpgc 56
Xp-G 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
some patients have no neurologic abnormalities


HPO:

31
xeroderma pigmentosum, complementation group g:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

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


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Summaries for Xeroderma Pigmentosum, Complementation Group G

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UniProtKB/Swiss-Prot : 73 Xeroderma pigmentosum complementation group G: 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. Some XP-G patients present features of Cockayne syndrome, cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex.

MalaCards based summary : Xeroderma Pigmentosum, Complementation Group G, also known as xeroderma pigmentosum, group g, is related to cerebrooculofacioskeletal syndrome 1 and cockayne syndrome b. An important gene associated with Xeroderma Pigmentosum, Complementation Group G is ERCC5 (ERCC Excision Repair 5, Endonuclease), and among its related pathways/superpathways are Regulation of TP53 Activity and Chks in Checkpoint Regulation. Affiliated tissues include skin, brain and lung, and related phenotypes are cataract and microcephaly

Disease Ontology : 12 A xeroderma pigmentosum that has material basis in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33.

OMIM : 56 For a general description of xeroderma pigmentosum, see XPA (278700), and of Cockayne syndrome, see CSA (216400). Complementation group G has one of the smallest series of cases (Arlett et al., 1980). (278780)

Wikipedia : 74 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 G

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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 G via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 cerebrooculofacioskeletal syndrome 1 32.7 ERCC6 ERCC5 ERCC2 ERCC1
2 cockayne syndrome b 32.3 ERCC8 ERCC6 ERCC1
3 cerebro-oculo-facio-skeletal syndrome 31.9 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
4 xeroderma pigmentosum, complementation group a 30.7 XRCC1 XPA RAD23B LIG1 H2AC18 FEN1
5 xeroderma pigmentosum-cockayne syndrome complex 30.6 ERCC5 ERCC4 ERCC3 ERCC2
6 skin carcinoma 30.3 XPA H2AC18 ERCC6 ERCC3 ERCC2 DDB2
7 autosomal recessive disease 30.0 XPA H2AC18 GTF2H5 ERCC6 ERCC3 ERCC2
8 trichothiodystrophy 29.9 XPA GTF2H5 ERCC6 ERCC5 ERCC4 ERCC3
9 cockayne syndrome 29.0 XPA UVSSA GTF2H1 FEN1 ERCC8 ERCC6
10 xeroderma pigmentosum, complementation group c 28.7 XRCC1 XPA RAD23B LIG1 H2AC18 GTF2H1
11 xeroderma pigmentosum, variant type 27.9 XRCC1 XPA UVSSA RAD23B LIG1 H2AC18
12 xeroderma pigmentosum, complementation group d 27.5 XRCC1 XPA RAD23B LIG1 H2AC18 GTF2H5
13 lung cancer 10.5
14 gastric cancer 10.4
15 cockayne syndrome type iii 10.4 ERCC8 ERCC6
16 small cell cancer of the lung 10.4
17 best vitelliform macular dystrophy 10.4 FEN1 DDB1
18 robinow syndrome 10.4 UVSSA H2AC18 ERCC6
19 ataxia and polyneuropathy, adult-onset 10.3
20 trichothiodystrophy 4, nonphotosensitive 10.3 GTF2H5 ERCC3
21 colorectal cancer 10.3
22 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.3 XRCC1 LIG1 FEN1
23 hair disease 10.3 H2AC18 ERCC6 ERCC3
24 enophthalmos 10.3 ERCC8 ERCC6
25 xeroderma pigmentosum, complementation group e 10.3 XPA ERCC5 DDB2 DDB1
26 autosomal genetic disease 10.2 XPA H2AC18 ERCC6 ERCC1
27 melanoma, cutaneous malignant 10 10.2
28 melanoma 10.2
29 rothmund-thomson syndrome, type 2 10.2 H2AC18 FEN1 EXO1 ERCC6
30 spinocerebellar ataxia type 1 with axonal neuropathy 10.2 XRCC1 LIG1 H2AC18 FEN1
31 bladder cancer 10.2
32 mutagen sensitivity 10.2 XRCC1 XPA RAD23B ERCC2
33 acoustic neuroma 10.2 LIG1 ERCC5 ERCC4 ERCC2
34 west syndrome 10.2
35 microcephaly 10.2
36 cataract 10.2
37 retinal degeneration 10.2
38 dwarfism 10.2
39 female breast cancer 10.2 XRCC1 ERCC5 ERCC4 ERCC2
40 aicardi-goutieres syndrome 10.1 H2AC18 EXO1 ERCC6
41 osteogenic sarcoma 10.1
42 leukemia, acute myeloid 10.1
43 lung cancer susceptibility 1 10.1
44 cerebrooculofacioskeletal syndrome 3 10.1
45 helix syndrome 10.1
46 adenocarcinoma 10.1
47 myeloid leukemia 10.1
48 ocular cancer 10.1 XPA H2AC18 ERCC2
49 severe combined immunodeficiency with sensitivity to ionizing radiation 10.0 H2AC18 ERCC6
50 lynch syndrome 10.0 XRCC1 RAD23B H2AC18 EXO1 ERCC6

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



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

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Human phenotypes related to Xeroderma Pigmentosum, Complementation Group G:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 cataract 31 occasional (7.5%) HP:0000518
2 microcephaly 31 occasional (7.5%) HP:0000252
3 spasticity 31 occasional (7.5%) HP:0001257
4 ataxia 31 occasional (7.5%) HP:0001251
5 tremor 31 occasional (7.5%) HP:0001337
6 growth delay 31 occasional (7.5%) HP:0001510
7 microphthalmia 31 occasional (7.5%) HP:0000568
8 pes cavus 31 occasional (7.5%) HP:0001761
9 cutaneous photosensitivity 31 HP:0000992
10 defective dna repair after ultraviolet radiation damage 31 HP:0003079

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
defective dna repair after ultraviolet radiation damage

Neurologic Central Nervous System:
spasticity (in some patients)
tremor (in some patients)
ataxia (in some patients)
developmental deterioration (in some patients)

Head And Neck Head:
microcephaly (in some patients)

Growth Other:
poor growth (in some patients)

Head And Neck Eyes:
microphthalmia (in some patients)
cataracts (in some patients)

Skin Nails Hair Skin:
photosensitivity
abnormal sensitivity to uvb wavelengths by radiation monochromator skin testing

Skeletal Feet:
pes cavus (in some patients)

Clinical features from OMIM:

278780

GenomeRNAi Phenotypes related to Xeroderma Pigmentosum, Complementation Group G 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 10.06 DDB2 ERCC4 ERCC5 ERCC6 XRCC1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.06 DDB2 ERCC1 ERCC4 ERCC5 ERCC6 ERCC8
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.06 DDB2 ERCC1 ERCC4 ERCC5 ERCC6 ERCC8
4 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 9.91 DDB2 ERCC1 ERCC8 EXO1 FEN1 LIG1
5 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 9.91 DDB2 ERCC1 ERCC5 EXO1 FEN1 LIG1
6 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.91 DDB2 ERCC1 ERCC5 EXO1 LIG1 XRCC1

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.31 CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3
2 growth/size/body region MP:0005378 10.25 CETN2 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
3 homeostasis/metabolism MP:0005376 10.18 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
4 mortality/aging MP:0010768 10.09 CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3
5 integument MP:0010771 10.02 DDB2 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
6 liver/biliary system MP:0005370 9.8 ERCC1 ERCC4 ERCC5 ERCC6 FEN1 LIG1
7 neoplasm MP:0002006 9.7 DDB2 ERCC1 ERCC2 ERCC3 ERCC6 ERCC8
8 vision/eye MP:0005391 9.23 CETN2 DDB1 ERCC1 ERCC2 ERCC6 ERCC8
Sources

Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group G

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Messenger Ribonucleic Acid Expression in Lymphocytes of Glaucoma Patients Completed NCT00327509

Search NIH Clinical Center for Xeroderma Pigmentosum, Complementation Group G

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Genetic Tests for Xeroderma Pigmentosum, Complementation Group G

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Genetic tests related to Xeroderma Pigmentosum, Complementation Group G:

# Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Group G 29 ERCC5
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Anatomical Context for Xeroderma Pigmentosum, Complementation Group G

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

40
Skin, Brain, Lung, Testes, Breast
Sources

Publications for Xeroderma Pigmentosum, Complementation Group G

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Articles related to Xeroderma Pigmentosum, Complementation Group G:

(show top 50) (show all 100)
# Title Authors PMID Year
1
The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity. 61 6 56
11841555 2002
2
Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. 6 56 61
11228268 2001
3
Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. 61 6 56
8317483 1993
4
Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress. 6 56
23255472 2013
5
Studies on a new case of xeroderma pigmentosum (XP3BR) from complementation group G with cellular sensitivity to ionizing radiation. 56 6
11219864 1980
6
A seventh complementation group in excision-deficient xeroderma pigmentosum. 56 6
492197 1979
7
Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. 6 61 54
7951246 1994
8
A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation. 61 6
24700531 2014
9
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. 6 61
12060391 2002
10
A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. 56 61
9096355 1997
11
Xeroderma pigmentosum complementation group G--report of two cases. 61 56
3620347 1987
12
XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients. 6
17466625 2007
13
Xeroderma Pigmentosum 6
20301571 2003
14
Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. 6
11443545 2001
15
Conserved residues of human XPG protein important for nuclease activity and function in nucleotide excision repair. 6
10026181 1999
16
Xeroderma pigmentosum--Cockayne syndrome complex: a further case. 6
8818951 1996
17
Human nucleotide excision repair syndromes: molecular clues to unexpected intricacies. 56
7734202 1994
18
Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome. 6
2478446 1989
19
A mild form of xeroderma pigmentosum assigned to complementation group G and its repair heterogeneity. 56
4031543 1985
20
Xeroderma pigmentosum--a unique variant with neurological involvement. 6
698095 1978
21
UV-induced apoptosis in XPG-deficient fibroblasts involves activation of CD95 and caspases but not p53. 54 61
17208056 2007
22
Relationships between genetic polymorphisms and anticancer drug cytotoxicity vis-à-vis the NCI-60 panel. 61 54
16981845 2006
23
Single nucleotide patch base excision repair is the major pathway for removal of thymine glycol from DNA in human cell extracts. 61 54
10766805 2000
24
The Drosophila ortholog of the human XPG gene. 54 61
10395909 1999
25
Human XPG nuclease structure, assembly, and activities with insights for neurodegeneration and cancer from pathogenic mutations. 61
32522879 2020
26
Association of XPG rs2094258 polymorphism with gastric cancer prognosis. 61
31558863 2019
27
Overall survival of classical Hodgkins lymphoma in Saudi patients is affected by XPG repair gene polymorphism. 61
30588297 2019
28
XPG Asp1104His polymorphism increases colorectal cancer risk especially in Asians. 61
30899401 2019
29
Association between the XPG gene rs2094258 polymorphism and risk of gastric cancer. 61
29732643 2018
30
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features. 61
29749609 2018
31
Association of XPG gene rs751402 polymorphism with gastric cancer risk: a meta-analysis in the Chinese population. 61
29148016 2018
32
XPG rs17655 G>C polymorphism associated with cancer risk: evidence from 60 studies. 61
29779017 2018
33
Association between the polymorphisms in XPG gene and gastric cancer susceptibility in Chinese populations: A PRISMA-compliant meta-analysis. 61
29049208 2017
34
The Association Between XPG Gene Polymorphism and Gastric Cancer Risk. 61
28832189 2017
35
XPG gene rs751402 C>T polymorphism and cancer risk: Evidence from 22 publications. 61
28881835 2017
36
The association between XPG polymorphisms and cancer susceptibility: Evidence from observational studies. 61
28796034 2017
37
XPG Asp1104His, XRCC2 Rs3218536 A/G and RAD51 135G/C Gene Polymorphisms and Colorectal Cancer Risk: A Meta-Analysis 61
28749109 2017
38
XPG gene polymorphisms and cancer susceptibility: evidence from 47 studies. 61
28416771 2017
39
ARID2 modulates DNA damage response in human hepatocellular carcinoma cells. 61
28238438 2017
40
XPG genetic polymorphisms and clinical outcome of patients with advanced non-small cell lung cancer under platinum-based treatment: a meta-analysis of 12 studies. 61
28314991 2017
41
[Expression of XPG Gene in Forensic Age Estimation]. 61
29205966 2016
42
Association between genetic variants in the XPG gene and gastric cancer risk in a Southern Chinese population. 61
27929383 2016
43
Predictive value of XPG rs2296147T>C polymorphism on clinical outcomes of cancer patients. 61
27588464 2016
44
DNA repair gene polymorphisms in non-small-cell lung cancer patients treated with first-line platinum-containing chemotherapy. 61
27396427 2016
45
Xpg limits the expansion of haematopoietic stem and progenitor cells after ionising radiation. 61
27137888 2016
46
Association between the XPG gene Asp1104His polymorphism and lung cancer risk. 61
27323149 2016
47
Association between XPG gene polymorphisms and development of gastric cancer risk in a Chinese population. 61
27323165 2016
48
Effect of GEN1 interference on the chemosensitivity of the breast cancer MCF-7 and SKBR3 cell lines. 61
27284361 2016
49
Association between XPG polymorphisms and stomach cancer susceptibility in a Chinese population. 61
26820236 2016
50
XPG rs2296147 T>C polymorphism predicted clinical outcome in colorectal cancer. 61
26887052 2016
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Variations for Xeroderma Pigmentosum, Complementation Group G

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

6 (show top 50) (show all 130) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ERCC5 NM_000123.4(ERCC5):c.838_839AG[3] (p.Val281fs)short repeat Pathogenic 802997 13:103514020-103514021 13:102861670-102861671
2 ERCC5 NM_000123.3(ERCC5):c.2878G>T (p.Glu960Ter)SNV Pathogenic 16566 rs121434570 13:103524747-103524747 13:102872397-102872397
3 ERCC5 ERCC5, 1-BP DEL, 2170Adeletion Pathogenic 16569
4 ERCC5 NM_000123.3(ERCC5):c.787C>T (p.Arg263Ter)SNV Pathogenic 16570 rs121434572 13:103513971-103513971 13:102861621-102861621
5 ERCC5 NM_000123.3(ERCC5):c.526C>T (p.Gln176Ter)SNV Pathogenic 16571 rs121434573 13:103508460-103508460 13:102856110-102856110
6 ERCC5 NM_000123.3(ERCC5):c.215C>A (p.Pro72His)SNV Pathogenic 16572 rs121434574 13:103504594-103504594 13:102852244-102852244
7 ERCC5 NM_000123.3(ERCC5):c.2573T>C (p.Leu858Pro)SNV Pathogenic 16573 rs121434575 13:103520502-103520502 13:102868152-102868152
8 ERCC5 NM_000123.3(ERCC5):c.1115_1118del (p.Arg372fs)deletion Pathogenic 16574 rs786200919 13:103514613-103514616 13:102862263-102862266
9 ERCC5 NM_000123.3(ERCC5):c.1494del (p.Asp499fs)deletion Pathogenic 16575 rs786200920 13:103514990-103514990 13:102862640-102862640
10 ERCC5 NM_000123.3(ERCC5):c.2751del (p.Lys917fs)deletion Pathogenic 16576 rs752661599 13:103524612-103524612 13:102872262-102872262
11 ERCC5 NM_000123.3(ERCC5):c.406C>T (p.Gln136Ter)SNV Pathogenic 16578 rs121434577 13:103506663-103506663 13:102854313-102854313
12 ERCC5 NM_001204425.1(BIVM-ERCC5):c.1451-5769C>ASNV Pathogenic 41495 rs267607281 13:103498699-103498699 13:102846349-102846349
13 ERCC5 NM_000123.3(ERCC5):c.2904G>C (p.Trp968Cys)SNV Pathogenic 41496 rs267607280 13:103525633-103525633 13:102873283-102873283
14 ERCC5 NM_000123.3(ERCC5):c.2353C>T (p.Gln785Ter)SNV Likely pathogenic 522358 rs1244074570 13:103519015-103519015 13:102866665-102866665
15 ERCC5 NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter)SNV Likely pathogenic 208576 rs9514067 13:103527930-103527930 13:102875580-102875580
16 ERCC5 NM_000123.3(ERCC5):c.1917A>G (p.Glu639=)SNV Conflicting interpretations of pathogenicity 310925 rs765554006 13:103515416-103515416 13:102863066-102863066
17 ERCC5 NM_000123.3(ERCC5):c.3003A>G (p.Gln1001=)SNV Conflicting interpretations of pathogenicity 310939 rs886049942 13:103527695-103527695 13:102875345-102875345
18 ERCC5 NM_000123.3(ERCC5):c.3428C>T (p.Ala1143Val)SNV Conflicting interpretations of pathogenicity 310941 rs376411022 13:103528120-103528120 13:102875770-102875770
19 ERCC5 NM_000123.3(ERCC5):c.2190T>C (p.Asp730=)SNV Conflicting interpretations of pathogenicity 310928 rs148103512 13:103518252-103518252 13:102865902-102865902
20 ERCC5 NM_000123.3(ERCC5):c.2818G>A (p.Val940Met)SNV Conflicting interpretations of pathogenicity 310936 rs146344855 13:103524687-103524687 13:102872337-102872337
21 ERCC5 NM_000123.3(ERCC5):c.1110T>A (p.Arg370=)SNV Conflicting interpretations of pathogenicity 310918 rs150791877 13:103514609-103514609 13:102862259-102862259
22 ERCC5 NM_000123.3(ERCC5):c.2534-10T>GSNV Conflicting interpretations of pathogenicity 310933 rs199562917 13:103520453-103520453 13:102868103-102868103
23 ERCC5 NM_000123.3(ERCC5):c.3486C>T (p.Leu1162=)SNV Conflicting interpretations of pathogenicity 310942 rs761650522 13:103528178-103528178 13:102875828-102875828
24 ERCC5 NM_000123.3(ERCC5):c.1287T>C (p.Asp429=)SNV Conflicting interpretations of pathogenicity 310921 rs146853061 13:103514786-103514786 13:102862436-102862436
25 ERCC5 NM_000123.3(ERCC5):c.1641C>T (p.Asn547=)SNV Conflicting interpretations of pathogenicity 310924 rs200615101 13:103515140-103515140 13:102862790-102862790
26 ERCC5 NM_000123.4(ERCC5):c.3492C>T (p.Thr1164=)SNV Conflicting interpretations of pathogenicity 719027 13:103528184-103528184 13:102875834-102875834
27 ERCC5 NM_000123.4(ERCC5):c.294G>A (p.Ala98=)SNV Conflicting interpretations of pathogenicity 740330 13:103506136-103506136 13:102853786-102853786
28 ERCC5 NM_000123.4(ERCC5):c.2280C>T (p.Ile760=)SNV Conflicting interpretations of pathogenicity 744000 13:103518692-103518692 13:102866342-102866342
29 ERCC5 NM_000123.3(ERCC5):c.3427G>A (p.Ala1143Thr)SNV Conflicting interpretations of pathogenicity 134174 rs55798001 13:103528119-103528119 13:102875769-102875769
30 ERCC5 NM_000123.3(ERCC5):c.2995T>G (p.Leu999Val)SNV Conflicting interpretations of pathogenicity 134175 rs368550097 13:103527687-103527687 13:102875337-102875337
31 ERCC5 NM_000123.3(ERCC5):c.592C>A (p.Pro198Thr)SNV Conflicting interpretations of pathogenicity 134179 rs141369732 13:103510688-103510688 13:102858338-102858338
32 ERCC5 NM_000123.3(ERCC5):c.1259G>A (p.Arg420His)SNV Conflicting interpretations of pathogenicity 134193 rs143667470 13:103514758-103514758 13:102862408-102862408
33 ERCC5 NM_000123.3(ERCC5):c.1789G>C (p.Val597Leu)SNV Conflicting interpretations of pathogenicity 134195 rs4150319 13:103515288-103515288 13:102862938-102862938
34 ERCC5 NM_000123.3(ERCC5):c.876A>G (p.Ile292Met)SNV Uncertain significance 134183 rs193097418 13:103514060-103514060 13:102861710-102861710
35 ERCC5 NM_000123.3(ERCC5):c.788G>A (p.Arg263Gln)SNV Uncertain significance 134185 rs61749896 13:103513972-103513972 13:102861622-102861622
36 ERCC5 NM_000123.3(ERCC5):c.3106G>A (p.Ala1036Thr)SNV Uncertain significance 134171 rs144208043 13:103527798-103527798 13:102875448-102875448
37 ERCC5 NM_000123.3(ERCC5):c.212G>A (p.Arg71His)SNV Uncertain significance 134176 rs587778293 13:103504591-103504591 13:102852241-102852241
38 ERCC5 NM_000123.3(ERCC5):c.56C>T (p.Pro19Leu)SNV Uncertain significance 134159 rs34291397 13:103498672-103498672 13:102846322-102846322
39 ERCC5 NM_000123.3(ERCC5):c.2281G>A (p.Ala761Thr)SNV Uncertain significance 134160 rs142438319 13:103518693-103518693 13:102866343-102866343
40 ERCC5 NM_000123.3(ERCC5):c.2620G>A (p.Ala874Thr)SNV Uncertain significance 16577 rs121434576 13:103520549-103520549 13:102868199-102868199
41 ERCC5 NM_000123.3(ERCC5):c.1129del (p.Ala377fs)deletion Uncertain significance 631695 rs1341902350 13:103514628-103514628 13:102862278-102862278
42 ERCC5 NM_000123.3(ERCC5):c.2375C>T (p.Ala792Val)SNV Uncertain significance 16567 rs121434571 13:103519037-103519037 13:102866687-102866687
43 ERCC5 NM_000123.4(ERCC5):c.1787C>G (p.Ala596Gly)SNV Uncertain significance 802999 13:103515286-103515286 13:102862936-102862936
44 ERCC5 NM_001204425.2(BIVM-ERCC5):c.1450+6084C>TSNV Uncertain significance 882587 13:103498237-103498237 13:102845887-102845887
45 ERCC5 NM_000123.4(ERCC5):c.-192A>CSNV Uncertain significance 883373 13:103498425-103498425 13:102846075-102846075
46 ERCC5 NM_000123.4(ERCC5):c.-146A>GSNV Uncertain significance 883374 13:103498471-103498471 13:102846121-102846121
47 ERCC5 NM_000123.4(ERCC5):c.32A>C (p.Glu11Ala)SNV Uncertain significance 881013 13:103498648-103498648 13:102846298-102846298
48 ERCC5 NM_000123.4(ERCC5):c.246A>C (p.Leu82=)SNV Uncertain significance 881016 13:103504625-103504625 13:102852275-102852275
49 ERCC5 NM_000123.4(ERCC5):c.293C>T (p.Ala98Val)SNV Uncertain significance 882371 13:103506135-103506135 13:102853785-102853785
50 ERCC5 NM_000123.4(ERCC5):c.479A>T (p.Glu160Val)SNV Uncertain significance 882372 13:103508413-103508413 13:102856063-102856063

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

73
# Symbol AA change Variation ID SNP ID
1 ERCC5 p.Ala792Val VAR_007733 rs121434571
2 ERCC5 p.Pro72His VAR_015280 rs121434574
3 ERCC5 p.Ala874Thr VAR_017096 rs121434576
4 ERCC5 p.Leu858Pro VAR_017097 rs121434575
5 ERCC5 p.Ala28Asp VAR_075773 rs267607281
6 ERCC5 p.Trp968Cys VAR_075774 rs267607280

Sources

Expression for Xeroderma Pigmentosum, Complementation Group G

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

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

# Super pathways Score Top Affiliating Genes
1
Regulation of TP53 Activity 65
Show member pathways
 12.75 GTF2H5 GTF2H1 EXO1 ERCC3 ERCC2 DDB2
2
Chks in Checkpoint Regulation 63
Show member pathways
 12.68 XRCC1 XPA RAD23B LIG1 GTF2H1 FEN1
3
Transcription-Coupled Nucleotide Excision Repair (TC-NER) 65
Show member pathways
 12.62 XRCC1 XPA UVSSA RAD23B LIG1 GTF2H5
4
DNA Double-Strand Break Repair 65
Show member pathways
 12.6 XRCC1 XPA UVSSA RAD23B LIG1 GTF2H5
5
DNA Damage 4
12.49 XRCC1 XPA RAD23B FEN1 ERCC4 ERCC3
6
Nucleotide excision repair 36
Show member pathways
 12.1 XPA RAD23B LIG1 GTF2H5 GTF2H1 ERCC8
7
RNA Polymerase I Promoter Escape 65
Show member pathways
 11.85 GTF2H5 GTF2H1 ERCC6 ERCC3 ERCC2
8
Mismatch repair 1 36 65
Show member pathways
 11.63 LIG1 FEN1 EXO1
9
Transcription_P53 signaling pathway 22
11.56 XPA GTF2H5 GTF2H1 ERCC3 ERCC2
10
Platinum Pathway, Pharmacokinetics/Pharmacodynamics 60
11.31 XPA ERCC6 ERCC4 ERCC3 ERCC2 ERCC1
Sources

GO Terms for Xeroderma Pigmentosum, Complementation Group G

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.23 XRCC1 XPA RAD23B LIG1 H2AC18 GTF2H5
2 nuclear chromosome, telomeric region GO:0000784 9.83 XRCC1 FEN1 ERCC4 ERCC1 DDB1
3 transcription factor TFIID complex GO:0005669 9.69 GTF2H5 ERCC3 ERCC2
4 Cul4-RING E3 ubiquitin ligase complex GO:0080008 9.63 ERCC8 DDB2 DDB1
5 transcription factor TFIIH holo complex GO:0005675 9.62 GTF2H5 GTF2H1 ERCC3 ERCC2
6 nucleoplasm GO:0005654 9.6 XRCC1 XPA UVSSA RAD23B LIG1 GTF2H5
7 ERCC4-ERCC1 complex GO:0070522 9.58 XRCC1 ERCC4 ERCC1
8 DNA replication factor A complex GO:0005662 9.54 XPA ERCC5
9 nucleotide-excision repair factor 1 complex GO:0000110 9.54 XPA ERCC4 ERCC1
10 Cul4A-RING E3 ubiquitin ligase complex GO:0031464 9.52 ERCC8 DDB1
11 Cul4B-RING E3 ubiquitin ligase complex GO:0031465 9.49 DDB2 DDB1
12 XPC complex GO:0071942 9.48 RAD23B CETN2
13 transcription factor TFIIH core complex GO:0000439 9.46 GTF2H5 GTF2H1 ERCC3 ERCC2
14 nucleotide-excision repair complex GO:0000109 9.26 ERCC8 ERCC5 ERCC4 ERCC1

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

(show all 47)
# Name GO ID Score Top Affiliating Genes
1 nucleotide-excision repair, DNA incision GO:0033683 10.18 XPA GTF2H5 GTF2H1 ERCC5 ERCC4 ERCC3
2 response to UV GO:0009411 10.16 XPA UVSSA ERCC8 ERCC6 ERCC5 ERCC4
3 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 10.16 XPA GTF2H5 GTF2H1 ERCC5 ERCC4 ERCC3
4 nucleotide-excision repair, DNA duplex unwinding GO:0000717 10.15 XPA RAD23B GTF2H5 GTF2H1 ERCC3 ERCC2
5 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 10.13 XPA GTF2H5 GTF2H1 ERCC5 ERCC4 ERCC3
6 nucleotide-excision repair, preincision complex assembly GO:0006294 10.1 XPA RAD23B GTF2H5 GTF2H1 ERCC5 ERCC3
7 UV protection GO:0009650 10.07 XPA FEN1 ERCC5 ERCC4 ERCC3 ERCC2
8 nucleotide-excision repair, preincision complex stabilization GO:0006293 10.07 XPA GTF2H5 GTF2H1 ERCC5 ERCC4 ERCC3
9 nucleotide-excision repair GO:0006289 10.07 XPA RAD23B GTF2H5 GTF2H1 ERCC8 ERCC5
10 transcription by RNA polymerase II GO:0006366 10.06 GTF2H5 GTF2H1 ERCC6 ERCC3 ERCC2
11 global genome nucleotide-excision repair GO:0070911 10.06 XPA RAD23B GTF2H5 GTF2H1 ERCC4 ERCC3
12 response to oxidative stress GO:0006979 10.05 XPA ERCC8 ERCC6 ERCC3 ERCC2 ERCC1
13 nucleic acid phosphodiester bond hydrolysis GO:0090305 10.02 FEN1 EXO1 ERCC5 ERCC4 ERCC1
14 transcription-coupled nucleotide-excision repair GO:0006283 10 XRCC1 XPA UVSSA LIG1 GTF2H5 GTF2H1
15 transcription initiation from RNA polymerase II promoter GO:0006367 9.97 GTF2H5 GTF2H1 ERCC3 ERCC2
16 base-excision repair GO:0006284 9.96 XRCC1 XPA LIG1 FEN1 ERCC6
17 multicellular organism growth GO:0035264 9.95 XPA ERCC6 ERCC2 ERCC1
18 transcription elongation from RNA polymerase I promoter GO:0006362 9.95 GTF2H5 GTF2H1 ERCC6 ERCC3 ERCC2
19 DNA duplex unwinding GO:0032508 9.94 ERCC8 ERCC6 ERCC3 ERCC2
20 transcription elongation from RNA polymerase II promoter GO:0006368 9.94 GTF2H5 GTF2H1 ERCC3 ERCC2
21 nucleotide-excision repair, DNA damage recognition GO:0000715 9.93 XPA RAD23B DDB2 DDB1 CETN2
22 cellular response to DNA damage stimulus GO:0006974 9.93 XRCC1 XPA UVSSA RAD23B LIG1 GTF2H5
23 embryonic organ development GO:0048568 9.92 RAD23B ERCC3 ERCC2 ERCC1
24 transcription initiation from RNA polymerase I promoter GO:0006361 9.91 GTF2H5 GTF2H1 ERCC3 ERCC2
25 7-methylguanosine mRNA capping GO:0006370 9.91 GTF2H5 GTF2H1 ERCC3 ERCC2
26 termination of RNA polymerase I transcription GO:0006363 9.9 GTF2H5 GTF2H1 ERCC3 ERCC2
27 DNA recombination GO:0006310 9.87 LIG1 EXO1 ERCC1
28 UV-damage excision repair GO:0070914 9.87 XPA ERCC1 DDB2 DDB1
29 double-strand break repair via homologous recombination GO:0000724 9.86 XRCC1 FEN1 ERCC4
30 regulation of mitotic cell cycle phase transition GO:1901990 9.86 ERCC3 ERCC2 DDB1
31 double-strand break repair via nonhomologous end joining GO:0006303 9.85 XRCC1 ERCC4 ERCC1
32 response to X-ray GO:0010165 9.82 ERCC8 ERCC6 ERCC1
33 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.81 XPA ERCC6 ERCC1
34 single strand break repair GO:0000012 9.8 XRCC1 ERCC8 ERCC6
35 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.77 XRCC1 ERCC4 ERCC1
36 telomeric DNA-containing double minutes formation GO:0061819 9.76 XRCC1 ERCC4 ERCC1
37 isotype switching GO:0045190 9.7 EXO1 ERCC1
38 response to auditory stimulus GO:0010996 9.7 XPA ERCC8
39 t-circle formation GO:0090656 9.69 EXO1 ERCC1
40 histone H2A monoubiquitination GO:0035518 9.69 DDB2 DDB1
41 phosphorylation of RNA polymerase II C-terminal domain GO:0070816 9.68 GTF2H5 GTF2H1
42 double-strand break repair via classical nonhomologous end joining GO:0097680 9.68 ERCC8 ERCC6
43 hair cell differentiation GO:0035315 9.67 ERCC3 ERCC2
44 pyrimidine dimer repair GO:0006290 9.67 ERCC6 DDB2
45 negative regulation of telomere maintenance GO:0032205 9.66 ERCC4 ERCC1
46 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.65 XPA ERCC4
47 DNA repair GO:0006281 9.6 XRCC1 XPA UVSSA RAD23B LIG1 GTF2H5

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.5 XRCC1 XPA UVSSA RAD23B GTF2H5 GTF2H1
2 hydrolase activity GO:0016787 10.17 FEN1 EXO1 ERCC6 ERCC5 ERCC4 ERCC3
3 DNA binding GO:0003677 9.97 XPA LIG1 H2AC18 FEN1 EXO1 ERCC6
4 protein-containing complex binding GO:0044877 9.93 ERCC8 ERCC6 ERCC5 DDB2 DDB1
5 protein C-terminus binding GO:0008022 9.85 ERCC6 ERCC4 ERCC3 ERCC2 ERCC1
6 single-stranded DNA binding GO:0003697 9.8 RAD23B ERCC5 ERCC4 ERCC1
7 nuclease activity GO:0004518 9.8 FEN1 EXO1 ERCC5 ERCC4 ERCC1
8 protein N-terminus binding GO:0047485 9.77 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
9 promoter-specific chromatin binding GO:1990841 9.73 ERCC4 ERCC3 ERCC1
10 DNA helicase activity GO:0003678 9.73 ERCC8 ERCC6 ERCC3 ERCC2
11 endonuclease activity GO:0004519 9.72 FEN1 EXO1 ERCC5 ERCC4 ERCC1
12 hydrolase activity, acting on ester bonds GO:0016788 9.7 FEN1 EXO1 ERCC5
13 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 9.65 GTF2H1 ERCC3 ERCC2
14 5'-3' exonuclease activity GO:0008409 9.61 FEN1 EXO1
15 RNA-DNA hybrid ribonuclease activity GO:0004523 9.61 FEN1 EXO1
16 endodeoxyribonuclease activity GO:0004520 9.6 ERCC5 ERCC4
17 TFIID-class transcription factor complex binding GO:0001094 9.59 ERCC4 ERCC1
18 5'-flap endonuclease activity GO:0017108 9.58 FEN1 EXO1
19 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.58 ERCC4 ERCC1
20 flap endonuclease activity GO:0048256 9.51 FEN1 EXO1
21 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.43 XRCC1 ERCC4 ERCC1
22 DNA-dependent ATPase activity GO:0008094 9.35 GTF2H1 ERCC8 ERCC6 ERCC3 ERCC2
23 damaged DNA binding GO:0003684 9.32 XRCC1 XPA RAD23B FEN1 ERCC4 ERCC3
Sources

Sources for Xeroderma Pigmentosum, Complementation Group G

About this section
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
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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