XPG
MCID: XRD023
MIFTS: 53

Xeroderma Pigmentosum, Complementation Group G (XPG)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Skin diseases

Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group G

MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group G:

Name: Xeroderma Pigmentosum, Complementation Group G 57 54 39
Xeroderma Pigmentosum, Group G 57 29 13 6 70
Xeroderma Pigmentosum Vii 57 12 72
Xp7 57 12 72
Xeroderma Pigmentosum Group G 12 15
Xp Group G 12 72
Xpg 57 12
Xeroderma Pigmentosum, Group G/cockayne Syndrome 57
Xeroderma Pigmentosum Group G/cockayne Syndrome 6
Xeroderma Pigmentosum Complementation Group G 72
Xeroderma Pigmentosum Vii; Xp7 57
Xeroderma Pigmentosum, Type 7 73
Xp, Group G; Xpgc 57
Xp, Group G 57
Xp-G/cs 72
Xpgc 57
Xp-G 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:



Summaries for Xeroderma Pigmentosum, Complementation Group G

UniProtKB/Swiss-Prot : 72 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, lung and breast, and related phenotypes are spasticity and ataxia

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

OMIM® : 57 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) (Updated 05-Apr-2021)

Wikipedia : 73 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 G

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 103)
# Related Disease Score Top Affiliating Genes
1 cerebrooculofacioskeletal syndrome 1 31.9 ERCC6 ERCC5 ERCC2 ERCC1
2 cockayne syndrome b 31.9 ERCC6 ERCC1 DDB1
3 cerebro-oculo-facio-skeletal syndrome 31.7 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
4 xeroderma pigmentosum, complementation group a 31.3 XRCC1 XPA RAD23B H2AC18 FEN1 ERCC6
5 autosomal recessive disease 30.5 XPA H2AC18 ERCC6 ERCC3 ERCC2
6 skin carcinoma 30.5 XRCC1 XPA H2AC18 ERCC6 ERCC3 ERCC2
7 xeroderma pigmentosum-cockayne syndrome complex 30.4 ERCC5 ERCC4 ERCC3 ERCC2 BIVM-ERCC5
8 cerebrooculofacioskeletal syndrome 3 30.4 ERCC5 BIVM-ERCC5
9 trichothiodystrophy 30.3 XPA ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
10 cockayne syndrome 30.1 XPA UVSSA H2AC18 GTF2H1 FEN1 ERCC6
11 xeroderma pigmentosum, variant type 29.9 XRCC1 XPA UVSSA RAD23B LIG1 H2AC18
12 xeroderma pigmentosum, complementation group f 29.6 XPA RAD23B LIG1 FEN1 ERCC6 ERCC5
13 xeroderma pigmentosum, complementation group c 29.4 XRCC1 XPA RAD23B LIG1 H2AC18 GTF2H1
14 xeroderma pigmentosum, complementation group d 29.1 XRCC1 XPA RAD23B LIG1 H2AC18 GTF2H1
15 robinow syndrome 10.4 UVSSA H2AC18 ERCC6
16 photoparoxysmal response 1 10.4 XPA ERCC6 ERCC1
17 xeroderma pigmentosum, complementation group e 10.3 XPA ERCC5 DDB2 DDB1
18 rothmund-thomson syndrome, type 2 10.3 FEN1 EXO1 ERCC6
19 gastric cancer 10.3
20 spinocerebellar ataxia type 1 with axonal neuropathy 10.3 XRCC1 LIG1 H2AC18 FEN1
21 mutagen sensitivity 10.3 XRCC1 XPA RAD23B ERCC2
22 gastroesophageal adenocarcinoma 10.3 XRCC1 XPA ERCC2 ERCC1
23 acoustic neuroma 10.3 LIG1 ERCC5 ERCC4 ERCC2
24 trichothiodystrophy 1, photosensitive 10.3 ERCC6 ERCC3 ERCC2
25 melanoma 10.3
26 hutchinson-gilford progeria syndrome 10.3 XPA H2AC18 ERCC6 ERCC4 ERCC1
27 female breast cancer 10.3 XRCC1 ERCC5 ERCC4 ERCC2
28 autosomal genetic disease 10.2 XPA H2AC18 ERCC6 ERCC1
29 hair disease 10.2 H2AC18 ERCC6 ERCC3
30 aicardi-goutieres syndrome 10.2 H2AC18 FEN1 EXO1 ERCC6 DDB1
31 small cell cancer of the lung 10.2
32 ocular cancer 10.2 XPA H2AC18 ERCC2
33 seckel syndrome 10.2 XRCC1 H2AC18 EXO1 ERCC6
34 lynch syndrome 10.2 XRCC1 RAD23B H2AC18 EXO1 ERCC6
35 xfe progeroid syndrome 10.2 XPA UVSSA ERCC6 ERCC5 ERCC4 ERCC3
36 cockayne syndrome a 10.2 XPA ERCC6 ERCC5 ERCC4 ERCC3 ERCC1
37 breast disease 10.2 XRCC1 RAD23B H2AC18 ERCC5 ERCC4 ERCC2
38 ataxia and polyneuropathy, adult-onset 10.2
39 west syndrome 10.2
40 microcephaly 10.2
41 cataract 10.2
42 retinal degeneration 10.2
43 dwarfism 10.2
44 basal cell carcinoma 10.1 XRCC1 XPA ERCC2 ERCC1 DDB2
45 trichothiodystrophy 3, photosensitive 10.1 UVSSA ERCC6 ERCC3 ERCC2 DDB2 CETN2
46 colorectal cancer 10.1
47 peripheral nervous system disease 10.1 H2AC18 ERCC6 ERCC5 BIVM-ERCC5
48 severe combined immunodeficiency with sensitivity to ionizing radiation 10.1 H2AC18 ERCC6
49 robinow syndrome, autosomal recessive 1 10.1 XPA UVSSA H2AC18 ERCC6 ERCC4 ERCC3
50 bladder cancer 10.0

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



Diseases related to Xeroderma Pigmentosum, Complementation Group G

Symptoms & Phenotypes for Xeroderma Pigmentosum, Complementation Group G

Human phenotypes related to Xeroderma Pigmentosum, Complementation Group G:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 occasional (7.5%) HP:0001257
2 ataxia 31 occasional (7.5%) HP:0001251
3 tremor 31 occasional (7.5%) HP:0001337
4 cataract 31 occasional (7.5%) HP:0000518
5 microcephaly 31 occasional (7.5%) HP:0000252
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®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
defective dna repair after ultraviolet radiation damage

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

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)

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

Skeletal Feet:
pes cavus (in some patients)

Clinical features from OMIM®:

278780 (Updated 05-Apr-2021)

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 10.03 DDB2 ERCC4 ERCC5 ERCC6 XRCC1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.03 DDB2 ERCC1 ERCC4 ERCC5 ERCC6 EXO1
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.03 DDB2 ERCC1 ERCC4 ERCC5 ERCC6 EXO1
4 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 9.89 DDB2 ERCC1 EXO1 FEN1 LIG1
5 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 9.89 DDB2 ERCC1 ERCC5 EXO1 FEN1 LIG1
6 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.89 DDB2 ERCC1 ERCC5 EXO1 LIG1 XRCC1

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.3 CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3
2 growth/size/body region MP:0005378 10.22 CETN2 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
3 homeostasis/metabolism MP:0005376 10.18 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
4 endocrine/exocrine gland MP:0005379 10.09 DDB1 ERCC1 ERCC2 ERCC3 EXO1 FEN1
5 mortality/aging MP:0010768 10.03 CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3
6 integument MP:0010771 9.97 DDB2 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
7 liver/biliary system MP:0005370 9.8 ERCC1 ERCC4 ERCC5 ERCC6 FEN1 LIG1
8 neoplasm MP:0002006 9.65 DDB2 ERCC1 ERCC2 ERCC3 ERCC6 EXO1
9 reproductive system MP:0005389 9.28 CETN2 DDB1 ERCC1 ERCC2 ERCC3 EXO1

Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group G

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

Genetic Tests for Xeroderma Pigmentosum, Complementation Group G

Genetic tests related to Xeroderma Pigmentosum, Complementation Group G:

# Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Group G 29 ERCC5

Anatomical Context for Xeroderma Pigmentosum, Complementation Group G

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

40
Skin, Lung, Breast

Publications for Xeroderma Pigmentosum, Complementation Group G

Articles related to Xeroderma Pigmentosum, Complementation Group G:

(show top 50) (show all 103)
# Title Authors PMID Year
1
The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity. 61 57 6
11841555 2002
2
Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. 57 6 61
11228268 2001
3
Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. 61 6 57
8317483 1993
4
Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress. 6 57
23255472 2013
5
Studies on a new case of xeroderma pigmentosum (XP3BR) from complementation group G with cellular sensitivity to ionizing radiation. 6 57
11219864 1980
6
A seventh complementation group in excision-deficient xeroderma pigmentosum. 6 57
492197 1979
7
Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. 61 54 6
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. 61 57
9096355 1997
11
Xeroderma pigmentosum complementation group G--report of two cases. 61 57
3620347 1987
12
XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients. 6
17466625 2007
13
Identification of the XPG region that causes the onset of Cockayne syndrome by using Xpg mutant mice generated by the cDNA-mediated knock-in method. 6
15082767 2004
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. 57
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. 57
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. 61 54
17208056 2007
22
Relationships between genetic polymorphisms and anticancer drug cytotoxicity vis-à-vis the NCI-60 panel. 54 61
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. 61 54
10395909 1999
25
XPG gene polymorphisms and glioma susceptibility: a two-centre case-control study. 61
33393424 2021
26
Modulation of DNA damage by XPF, XPG and ERCC1 gene polymorphisms in pesticide-exposed agricultural workers of Punjab, North-West India. 61
33551103 2021
27
The crystal structure of human XPG, the xeroderma pigmentosum group G endonuclease, provides insight into nucleotide excision DNA repair. 61
32821917 2020
28
Human XPG nuclease structure, assembly, and activities with insights for neurodegeneration and cancer from pathogenic mutations. 61
32522879 2020
29
Association of XPG rs2094258 polymorphism with gastric cancer prognosis. 61
31558863 2019
30
Overall survival of classical Hodgkins lymphoma in Saudi patients is affected by XPG repair gene polymorphism. 61
30588297 2019
31
XPG Asp1104His polymorphism increases colorectal cancer risk especially in Asians. 61
30899401 2019
32
Association between the XPG gene rs2094258 polymorphism and risk of gastric cancer. 61
29732643 2018
33
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features. 61
29749609 2018
34
XPG rs17655 G>C polymorphism associated with cancer risk: evidence from 60 studies. 61
29779017 2018
35
Association of XPG gene rs751402 polymorphism with gastric cancer risk: a meta-analysis in the Chinese population. 61
29148016 2018
36
The Association Between XPG Gene Polymorphism and Gastric Cancer Risk. 61
28832189 2017
37
Association between the polymorphisms in XPG gene and gastric cancer susceptibility in Chinese populations: A PRISMA-compliant meta-analysis. 61
29049208 2017
38
The association between XPG polymorphisms and cancer susceptibility: Evidence from observational studies. 61
28796034 2017
39
XPG gene rs751402 C>T polymorphism and cancer risk: Evidence from 22 publications. 61
28881835 2017
40
XPG Asp1104His, XRCC2 Rs3218536 A/G and RAD51 135G/C Gene Polymorphisms and Colorectal Cancer Risk: A Meta-Analysis 61
28749109 2017
41
XPG gene polymorphisms and cancer susceptibility: evidence from 47 studies. 61
28416771 2017
42
ARID2 modulates DNA damage response in human hepatocellular carcinoma cells. 61
28238438 2017
43
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
44
Association between genetic variants in the XPG gene and gastric cancer risk in a Southern Chinese population. 61
27929383 2016
45
[Expression of XPG Gene in Forensic Age Estimation]. 61
29205966 2016
46
Predictive value of XPG rs2296147T>C polymorphism on clinical outcomes of cancer patients. 61
27588464 2016
47
DNA repair gene polymorphisms in non-small-cell lung cancer patients treated with first-line platinum-containing chemotherapy. 61
27396427 2016
48
Xpg limits the expansion of haematopoietic stem and progenitor cells after ionising radiation. 61
27137888 2016
49
Association between the XPG gene Asp1104His polymorphism and lung cancer risk. 61
27323149 2016
50
Association between XPG gene polymorphisms and development of gastric cancer risk in a Chinese population. 61
27323165 2016

Variations for Xeroderma Pigmentosum, Complementation Group G

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

6 (show top 50) (show all 151)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.526C>T (p.Gln176Ter) SNV Pathogenic 16571 rs121434573 GRCh37: 13:103508460-103508460
GRCh38: 13:102856110-102856110
2 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.215C>A (p.Pro72His) SNV Pathogenic 16572 rs121434574 GRCh37: 13:103504594-103504594
GRCh38: 13:102852244-102852244
3 ERCC5 ERCC5, 1-BP DEL, 2170A Deletion Pathogenic 16569 GRCh37:
GRCh38:
4 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.787C>T (p.Arg263Ter) SNV Pathogenic 16570 rs121434572 GRCh37: 13:103513971-103513971
GRCh38: 13:102861621-102861621
5 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.406C>T (p.Gln136Ter) SNV Pathogenic 16578 rs121434577 GRCh37: 13:103506663-103506663
GRCh38: 13:102854313-102854313
6 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.2904G>C (p.Trp968Cys) SNV Pathogenic 41496 rs267607280 GRCh37: 13:103525633-103525633
GRCh38: 13:102873283-102873283
7 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.2573T>C (p.Leu858Pro) SNV Pathogenic 16573 rs121434575 GRCh37: 13:103520502-103520502
GRCh38: 13:102868152-102868152
8 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.1494del (p.Asp499fs) Deletion Pathogenic 16575 rs786200920 GRCh37: 13:103514990-103514990
GRCh38: 13:102862640-102862640
9 BIVM-ERCC5 , ERCC5 NM_000123.4(ERCC5):c.838_839AG[3] (p.Val281fs) Microsatellite Pathogenic 802997 rs1595382501 GRCh37: 13:103514020-103514021
GRCh38: 13:102861670-102861671
10 BIVM-ERCC5 , ERCC5 NM_001204425.1(BIVM-ERCC5):c.1451-5769C>A SNV Pathogenic 41495 rs267607281 GRCh37: 13:103498699-103498699
GRCh38: 13:102846349-102846349
11 ERCC5 ERCC5, 1-BP DEL, 2972T Deletion Pathogenic 16568 GRCh37:
GRCh38:
12 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.2766dup (p.Leu923fs) Duplication Pathogenic 209978 rs760232640 GRCh37: 13:103524633-103524634
GRCh38: 13:102872283-102872284
13 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.2878G>T (p.Glu960Ter) SNV Pathogenic 16566 rs121434570 GRCh37: 13:103524747-103524747
GRCh38: 13:102872397-102872397
14 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.2751del (p.Lys917fs) Deletion Pathogenic 16576 rs752661599 GRCh37: 13:103524612-103524612
GRCh38: 13:102872262-102872262
15 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.1115_1118del (p.Arg372fs) Deletion Pathogenic 16574 rs786200919 GRCh37: 13:103514613-103514616
GRCh38: 13:102862263-102862266
16 BIVM-ERCC5 , ERCC5 NM_000123.4(ERCC5):c.1855C>T (p.Gln619Ter) SNV Pathogenic 1028077 GRCh37: 13:103515354-103515354
GRCh38: 13:102863004-102863004
17 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.1115_1118del (p.Arg372fs) Deletion Pathogenic 16574 rs786200919 GRCh37: 13:103514613-103514616
GRCh38: 13:102862263-102862266
18 BIVM-ERCC5 , ERCC5 NM_000123.4(ERCC5):c.2427del (p.Asp809fs) Deletion Likely pathogenic 800881 rs777455688 GRCh37: 13:103519089-103519089
GRCh38: 13:102866739-102866739
19 ERCC5 NM_000123.3:c.89-?_528+?del Deletion Likely pathogenic 977918 GRCh37:
GRCh38:
20 BIVM-ERCC5 , ERCC5 NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter) SNV Likely pathogenic 208576 rs9514067 GRCh37: 13:103527930-103527930
GRCh38: 13:102875580-102875580
21 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.2353C>T (p.Gln785Ter) SNV Likely pathogenic 522358 rs1244074570 GRCh37: 13:103519015-103519015
GRCh38: 13:102866665-102866665
22 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.1110T>A (p.Arg370=) SNV Conflicting interpretations of pathogenicity 310918 rs150791877 GRCh37: 13:103514609-103514609
GRCh38: 13:102862259-102862259
23 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.3428C>T (p.Ala1143Val) SNV Conflicting interpretations of pathogenicity 310941 rs376411022 GRCh37: 13:103528120-103528120
GRCh38: 13:102875770-102875770
24 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.788G>A (p.Arg263Gln) SNV Conflicting interpretations of pathogenicity 134185 rs61749896 GRCh37: 13:103513972-103513972
GRCh38: 13:102861622-102861622
25 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.2818G>A (p.Val940Met) SNV Conflicting interpretations of pathogenicity 310936 rs146344855 GRCh37: 13:103524687-103524687
GRCh38: 13:102872337-102872337
26 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.1789G>C (p.Val597Leu) SNV Conflicting interpretations of pathogenicity 134195 rs4150319 GRCh37: 13:103515288-103515288
GRCh38: 13:102862938-102862938
27 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.3239G>A (p.Arg1080Gln) SNV Conflicting interpretations of pathogenicity 134166 rs4150388 GRCh37: 13:103527931-103527931
GRCh38: 13:102875581-102875581
28 BIVM-ERCC5 , ERCC5 NM_000123.4(ERCC5):c.3438C>A (p.Ser1146Arg) SNV Uncertain significance 883508 GRCh37: 13:103528130-103528130
GRCh38: 13:102875780-102875780
29 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.1789G>C (p.Val597Leu) SNV Uncertain significance 134195 rs4150319 GRCh37: 13:103515288-103515288
GRCh38: 13:102862938-102862938
30 BIVM-ERCC5 , ERCC5 NM_000123.4(ERCC5):c.529-3C>T SNV Uncertain significance 998179 GRCh37: 13:103510622-103510622
GRCh38: 13:102858272-102858272
31 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.56C>T (p.Pro19Leu) SNV Uncertain significance 134159 rs34291397 GRCh37: 13:103498672-103498672
GRCh38: 13:102846322-102846322
32 BIVM-ERCC5 , ERCC5 NM_000123.4(ERCC5):c.844G>A (p.Val282Ile) SNV Uncertain significance 998180 GRCh37: 13:103514028-103514028
GRCh38: 13:102861678-102861678
33 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.1259G>A (p.Arg420His) SNV Uncertain significance 134193 rs143667470 GRCh37: 13:103514758-103514758
GRCh38: 13:102862408-102862408
34 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.3038A>G (p.Gln1013Arg) SNV Uncertain significance 134167 rs587778292 GRCh37: 13:103527730-103527730
GRCh38: 13:102875380-102875380
35 BIVM-ERCC5 , ERCC5 NM_000123.4(ERCC5):c.3438C>A (p.Ser1146Arg) SNV Uncertain significance 883508 GRCh37: 13:103528130-103528130
GRCh38: 13:102875780-102875780
36 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.442C>T (p.Pro148Ser) SNV Uncertain significance 310913 rs778333931 GRCh37: 13:103506699-103506699
GRCh38: 13:102854349-102854349
37 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.56C>T (p.Pro19Leu) SNV Uncertain significance 134159 rs34291397 GRCh37: 13:103498672-103498672
GRCh38: 13:102846322-102846322
38 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.1259G>A (p.Arg420His) SNV Uncertain significance 134193 rs143667470 GRCh37: 13:103514758-103514758
GRCh38: 13:102862408-102862408
39 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.2281G>A (p.Ala761Thr) SNV Uncertain significance 134160 rs142438319 GRCh37: 13:103518693-103518693
GRCh38: 13:102866343-102866343
40 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.2818G>A (p.Val940Met) SNV Uncertain significance 310936 rs146344855 GRCh37: 13:103524687-103524687
GRCh38: 13:102872337-102872337
41 BIVM-ERCC5 , ERCC5 NM_000123.4(ERCC5):c.2487_2489del (p.Asn829del) Deletion Uncertain significance 1028078 GRCh37: 13:103519147-103519149
GRCh38: 13:102866797-102866799
42 BIVM-ERCC5 , ERCC5 NM_000123.4(ERCC5):c.1472A>C (p.Glu491Ala) SNV Uncertain significance 1028076 GRCh37: 13:103514971-103514971
GRCh38: 13:102862621-102862621
43 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.2281G>A (p.Ala761Thr) SNV Uncertain significance 134160 rs142438319 GRCh37: 13:103518693-103518693
GRCh38: 13:102866343-102866343
44 BIVM-ERCC5 , ERCC5 NM_000123.4(ERCC5):c.1787C>G (p.Ala596Gly) SNV Uncertain significance 802999 rs1595383704 GRCh37: 13:103515286-103515286
GRCh38: 13:102862936-102862936
45 ERCC5 , BIVM-ERCC5 NM_001204425.2(BIVM-ERCC5):c.1450+6084C>T SNV Uncertain significance 882587 GRCh37: 13:103498237-103498237
GRCh38: 13:102845887-102845887
46 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.1460C>T (p.Pro487Leu) SNV Uncertain significance 310922 rs560626350 GRCh37: 13:103514959-103514959
GRCh38: 13:102862609-102862609
47 BIVM-ERCC5 , ERCC5 NM_000123.4(ERCC5):c.511C>A (p.Gln171Lys) SNV Uncertain significance 997504 GRCh37: 13:103508445-103508445
GRCh38: 13:102856095-102856095
48 BIVM-ERCC5 , ERCC5 NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr) SNV Uncertain significance 997612 GRCh37: 13:103528246-103528246
GRCh38: 13:102875896-102875896
49 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.1460C>T (p.Pro487Leu) SNV Uncertain significance 310922 rs560626350 GRCh37: 13:103514959-103514959
GRCh38: 13:102862609-102862609
50 BIVM-ERCC5 , ERCC5 NM_000123.3(ERCC5):c.442C>T (p.Pro148Ser) SNV Uncertain significance 310913 rs778333931 GRCh37: 13:103506699-103506699
GRCh38: 13:102854349-102854349

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

72
# 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

Expression for Xeroderma Pigmentosum, Complementation Group G

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

Pathways for Xeroderma Pigmentosum, Complementation Group G

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 GTF2H1 EXO1 ERCC3 ERCC2 DDB2
2
Show member pathways
12.64 XRCC1 XPA RAD23B LIG1 GTF2H1 FEN1
3
Show member pathways
12.58 XRCC1 XPA UVSSA RAD23B LIG1 GTF2H1
4
Show member pathways
12.57 XRCC1 XPA UVSSA RAD23B LIG1 GTF2H1
5 12.49 XRCC1 XPA RAD23B FEN1 ERCC4 ERCC3
6
Show member pathways
12.07 XPA RAD23B LIG1 GTF2H1 ERCC6 ERCC5
7
Show member pathways
12.05 GEN1 EXO1 ERCC4 ERCC1
8
Show member pathways
11.75 GTF2H1 ERCC6 ERCC3 ERCC2
9
Show member pathways
11.63 LIG1 FEN1 EXO1
10 11.47 XPA GTF2H1 ERCC3 ERCC2
11 11.31 XPA ERCC6 ERCC4 ERCC3 ERCC2 ERCC1

GO Terms for Xeroderma Pigmentosum, Complementation Group G

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.93 XRCC1 XPA RAD23B LIG1 H2AC18 GTF2H1
2 chromosome, telomeric region GO:0000781 9.8 XRCC1 FEN1 ERCC4 ERCC1 DDB1
3 transcription factor TFIIH holo complex GO:0005675 9.61 GTF2H1 ERCC3 ERCC2
4 nucleoplasm GO:0005654 9.58 XRCC1 XPA UVSSA RAD23B LIG1 GTF2H1
5 transcription factor TFIIH core complex GO:0000439 9.54 GTF2H1 ERCC3 ERCC2
6 nucleotide-excision repair complex GO:0000109 9.5 ERCC5 ERCC4 ERCC1
7 DNA replication factor A complex GO:0005662 9.49 XPA ERCC5
8 Cul4B-RING E3 ubiquitin ligase complex GO:0031465 9.48 DDB2 DDB1
9 XPC complex GO:0071942 9.46 RAD23B CETN2
10 ERCC4-ERCC1 complex GO:0070522 9.43 XRCC1 ERCC4 ERCC1
11 nucleotide-excision repair factor 1 complex GO:0000110 9.33 XPA ERCC4 ERCC1

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

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 nucleotide-excision repair, DNA incision GO:0033683 10.13 XPA GTF2H1 ERCC5 ERCC4 ERCC3 ERCC2
2 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 10.11 XPA GTF2H1 ERCC5 ERCC4 ERCC3 ERCC2
3 nucleotide-excision repair, DNA duplex unwinding GO:0000717 10.1 XPA RAD23B GTF2H1 ERCC3 ERCC2 DDB2
4 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 10.09 XPA GTF2H1 ERCC5 ERCC4 ERCC3 ERCC2
5 nucleic acid phosphodiester bond hydrolysis GO:0090305 10.08 GEN1 FEN1 EXO1 ERCC5 ERCC4 ERCC1
6 response to UV GO:0009411 10.07 UVSSA ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
7 nucleotide-excision repair, preincision complex assembly GO:0006294 10.06 XPA RAD23B GTF2H1 ERCC5 ERCC3 ERCC2
8 UV protection GO:0009650 10.05 XPA FEN1 ERCC5 ERCC4 ERCC3 ERCC2
9 nucleotide-excision repair GO:0006289 10.03 XPA RAD23B GTF2H1 ERCC5 ERCC4 ERCC3
10 nucleotide-excision repair, preincision complex stabilization GO:0006293 10.02 XPA GTF2H1 ERCC5 ERCC4 ERCC3 ERCC2
11 global genome nucleotide-excision repair GO:0070911 10.02 XPA RAD23B GTF2H1 ERCC4 ERCC3 ERCC2
12 base-excision repair GO:0006284 9.96 XRCC1 XPA LIG1 FEN1 ERCC6
13 transcription by RNA polymerase II GO:0006366 9.95 GTF2H1 ERCC6 ERCC3 ERCC2
14 nucleotide-excision repair, DNA damage recognition GO:0000715 9.95 XPA RAD23B DDB2 DDB1 CETN2
15 response to oxidative stress GO:0006979 9.93 ERCC6 ERCC3 ERCC2 ERCC1
16 transcription-coupled nucleotide-excision repair GO:0006283 9.93 XRCC1 XPA UVSSA LIG1 GTF2H1 ERCC6
17 cellular response to DNA damage stimulus GO:0006974 9.93 XRCC1 XPA UVSSA RAD23B LIG1 GTF2H1
18 double-strand break repair via homologous recombination GO:0000724 9.91 XRCC1 GEN1 FEN1 ERCC4
19 embryonic organ development GO:0048568 9.9 RAD23B ERCC3 ERCC2 ERCC1
20 transcription elongation from RNA polymerase I promoter GO:0006362 9.89 GTF2H1 ERCC6 ERCC3 ERCC2
21 UV-damage excision repair GO:0070914 9.87 XPA ERCC1 DDB2 DDB1
22 DNA recombination GO:0006310 9.86 LIG1 EXO1 ERCC1
23 DNA duplex unwinding GO:0032508 9.85 ERCC6 ERCC3 ERCC2
24 regulation of mitotic cell cycle phase transition GO:1901990 9.84 ERCC3 ERCC2 DDB1
25 multicellular organism growth GO:0035264 9.84 ERCC6 ERCC2 ERCC1
26 transcription elongation from RNA polymerase II promoter GO:0006368 9.83 GTF2H1 ERCC3 ERCC2
27 double-strand break repair via nonhomologous end joining GO:0006303 9.83 XRCC1 ERCC4 ERCC1
28 transcription initiation from RNA polymerase I promoter GO:0006361 9.81 GTF2H1 ERCC3 ERCC2
29 7-methylguanosine mRNA capping GO:0006370 9.8 GTF2H1 ERCC3 ERCC2
30 termination of RNA polymerase I transcription GO:0006363 9.79 GTF2H1 ERCC3 ERCC2
31 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.76 XRCC1 ERCC4 ERCC1
32 telomeric DNA-containing double minutes formation GO:0061819 9.75 XRCC1 ERCC4 ERCC1
33 response to X-ray GO:0010165 9.69 ERCC6 ERCC1
34 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.69 ERCC6 ERCC1
35 isotype switching GO:0045190 9.68 EXO1 ERCC1
36 t-circle formation GO:0090656 9.68 EXO1 ERCC1
37 histone H2A monoubiquitination GO:0035518 9.68 DDB2 DDB1
38 single strand break repair GO:0000012 9.67 XRCC1 ERCC6
39 hair cell differentiation GO:0035315 9.65 ERCC3 ERCC2
40 pyrimidine dimer repair GO:0006290 9.64 ERCC6 DDB2
41 negative regulation of telomere maintenance GO:0032205 9.64 ERCC4 ERCC1
42 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.61 XPA ERCC4
43 DNA repair GO:0006281 9.6 XRCC1 XPA UVSSA RAD23B LIG1 GTF2H1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 10.18 GEN1 FEN1 EXO1 ERCC6 ERCC5 ERCC4
2 DNA binding GO:0003677 10.03 XPA LIG1 H2AC18 GEN1 FEN1 EXO1
3 catalytic activity GO:0003824 9.97 GEN1 FEN1 EXO1 ERCC5 BIVM-ERCC5
4 protein C-terminus binding GO:0008022 9.89 ERCC6 ERCC4 ERCC3 ERCC2 ERCC1
5 single-stranded DNA binding GO:0003697 9.83 RAD23B ERCC5 ERCC4 ERCC1 BIVM-ERCC5
6 protein N-terminus binding GO:0047485 9.8 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
7 nuclease activity GO:0004518 9.8 GEN1 FEN1 EXO1 ERCC5 ERCC4 ERCC1
8 DNA helicase activity GO:0003678 9.71 ERCC6 ERCC3 ERCC2
9 promoter-specific chromatin binding GO:1990841 9.7 ERCC4 ERCC3 ERCC1
10 hydrolase activity, acting on ester bonds GO:0016788 9.67 FEN1 EXO1 ERCC5 BIVM-ERCC5
11 5'-flap endonuclease activity GO:0017108 9.63 GEN1 FEN1 EXO1
12 5'-3' exonuclease activity GO:0008409 9.59 FEN1 EXO1
13 RNA-DNA hybrid ribonuclease activity GO:0004523 9.58 FEN1 EXO1
14 endodeoxyribonuclease activity GO:0004520 9.57 ERCC5 ERCC4
15 TFIID-class transcription factor complex binding GO:0001094 9.56 ERCC4 ERCC1
16 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.55 ERCC4 ERCC1
17 flap endonuclease activity GO:0048256 9.51 FEN1 EXO1
18 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.5 XRCC1 ERCC4 ERCC1
19 endonuclease activity GO:0004519 9.5 GEN1 FEN1 EXO1 ERCC5 ERCC4 ERCC1
20 damaged DNA binding GO:0003684 9.32 XRCC1 XPA RAD23B FEN1 ERCC4 ERCC3

Sources for Xeroderma Pigmentosum, Complementation Group G

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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