XPG
MCID: XRD023
MIFTS: 54

Xeroderma Pigmentosum, Complementation Group G (XPG)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Skin diseases
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Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group G

MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group G:

Name: Xeroderma Pigmentosum, Complementation Group G 57 53
Xeroderma Pigmentosum, Group G 57 28 12 5 71
Xeroderma Pigmentosum Vii 57 11 73
Xpg 57 11 75
Xp7 57 11 73
Xeroderma Pigmentosum Group G 11 14
Xp Group G 11 73
Xeroderma Pigmentosum, Group G/cockayne Syndrome 57
Xeroderma Pigmentosum Group G/cockayne Syndrome 5
Xeroderma Pigmentosum Complementation Group G 73
Xeroderma Pigmentosum, Type 7 75
Xp, Group G 57
Xp-G/cs 73
Xpgc 57
Xp-G 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable severity
some patients have no neurologic abnormalities


Classifications:



Summaries for Xeroderma Pigmentosum, Complementation Group G

UniProtKB/Swiss-Prot: 73 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 and xeroderma pigmentosum, complementation group a. An important gene associated with Xeroderma Pigmentosum, Complementation Group G is ERCC5 (ERCC Excision Repair 5, Endonuclease), and among its related pathways/superpathways are Homology Directed Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Affiliated tissues include skin, brain and lung, and related phenotypes are spasticity and ataxia

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 08-Dec-2022)

Disease Ontology: 11 A xeroderma pigmentosum that has material basis in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33.

Wikipedia 75 Xeroderma pigmentosum, type 7: Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA... more...

Xpg: The acronym XPG can refer to the... 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 130)
# Related Disease Score Top Affiliating Genes
1 cerebrooculofacioskeletal syndrome 31.3 XPA UVSSA RAD23B ERCC6 ERCC5 ERCC4
2 xeroderma pigmentosum, complementation group a 31.1 XRCC1 XPC XPA RAD23B LIG1 H2AC18
3 skin carcinoma 30.6 XPC XPA H2AC18 ERCC6 ERCC3 ERCC2
4 cerebrooculofacioskeletal syndrome 3 30.5 ERCC5 BIVM-ERCC5
5 xeroderma pigmentosum-cockayne syndrome complex 30.4 ERCC5 ERCC4 ERCC3 ERCC2 BIVM-ERCC5
6 cockayne syndrome 30.3 XPC XPA UVSSA FEN1 ERCC6 ERCC5
7 xeroderma pigmentosum, complementation group d 30.3 XRCC1 XPA ERCC3 ERCC2 ERCC1
8 xeroderma pigmentosum, complementation group b 30.2 XPA LIG1 ERCC6 ERCC3 ERCC2 ERCC1
9 xeroderma pigmentosum, complementation group e 30.1 XPC XPA ERCC5 DDB2 DDB1
10 cerebrooculofacioskeletal syndrome 2 30.1 ERCC6 ERCC2
11 xeroderma pigmentosum, variant type 30.0 XRCC1 XPC XPA UVSSA RAD23B LIG1
12 cerebrooculofacioskeletal syndrome 1 30.0 UVSSA ERCC6 ERCC5 ERCC3 ERCC2 ERCC1
13 xeroderma pigmentosum, complementation group f 29.7 XRCC1 XPA RAD23B LIG1 H2AC18 ERCC6
14 xeroderma pigmentosum, complementation group c 29.5 XRCC1 XPC XPA RAD23B LIG1 H2AC18
15 trichothiodystrophy 29.1 XRCC1 XPC XPA UVSSA RAD23B LIG1
16 cockayne syndrome a 28.9 XRCC1 XPC XPA UVSSA RAD23B LIG1
17 lung cancer 10.4
18 trichothiodystrophy 2, photosensitive 10.3 ERCC3 ERCC2
19 prostate calculus 10.3 XPC ERCC3
20 pectus excavatum 10.3 ERCC5 BIVM-ERCC5
21 hair disease 10.3 H2AC18 ERCC6 ERCC3
22 spinocerebellar ataxia type 1 with axonal neuropathy 10.3 XRCC1 H2AC18 FEN1
23 sporadic breast cancer 10.3 XRCC1 H2AC18 ERCC6
24 photoparoxysmal response 1 10.3 XPA ERCC6
25 fanconi anemia, complementation group q 10.3 ERCC6 ERCC4
26 skin benign neoplasm 10.3 XPA ERCC3 ERCC2
27 testicular disease 10.3 H2AC18 ERCC6 ERCC1
28 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.3 XRCC1 LIG1 FEN1
29 autosomal recessive cerebellar ataxia 10.3 XRCC1 H2AC18 ERCC6
30 testicular cancer 10.3 H2AC18 ERCC6 ERCC2 ERCC1
31 small cell cancer of the lung 10.3
32 melanoma 10.3
33 nijmegen breakage syndrome 10.3 LIG1 H2AC18 EXO1 ERCC6
34 gastric cancer 10.2
35 parkinsonism with spasticity, x-linked 10.2 ERCC3 ERCC2
36 seckel syndrome 10.2 XRCC1 H2AC18 EXO1 ERCC6
37 xeroderma pigmentosum group e 10.2 XPA H2AC18 ERCC6 DDB2 DDB1
38 trichothiodystrophy 3, photosensitive 10.2 ERCC6 ERCC3 ERCC2 DDB2 CETN2
39 hutchinson-gilford progeria syndrome 10.2 H2AC18 ERCC6 ERCC4
40 ataxia-telangiectasia 10.2 XRCC1 XPA LIG1 ERCC3
41 rothmund-thomson syndrome, type 2 10.2 H2AC18 FEN1 EXO1 ERCC6 ERCC3 ERCC2
42 basal cell carcinoma 10.2 XRCC1 XPA H2AC18 ERCC6 ERCC2 ERCC1
43 west syndrome 10.2
44 microcephaly 10.2
45 peripheral retinal degeneration 10.2
46 cataract 10.2
47 retinal degeneration 10.2
48 congenital nervous system abnormality 10.1 XRCC1 XPA H2AC18 ERCC6 ERCC3 ERCC2
49 cerebellar disease 10.1 XRCC1 H2AC18 ERCC6
50 de sanctis-cacchione syndrome 10.1 XPA UVSSA RAD23B ERCC6 ERCC3 ERCC2

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:

30 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 30 Occasional (7.5%) HP:0001257
2 ataxia 30 Occasional (7.5%) HP:0001251
3 tremor 30 Occasional (7.5%) HP:0001337
4 growth delay 30 Occasional (7.5%) HP:0001510
5 pes cavus 30 Occasional (7.5%) HP:0001761
6 cataract 30 Very rare (1%) HP:0000518
7 global developmental delay 30 Very rare (1%) HP:0001263
8 microcephaly 30 Very rare (1%) HP:0000252
9 microphthalmia 30 Very rare (1%) HP:0000568
10 cutaneous photosensitivity 30 Very rare (1%) HP:0000992
11 infantile spasms 30 Very rare (1%) HP:0012469
12 small for gestational age 30 Very rare (1%) HP:0001518
13 defective dna repair after ultraviolet radiation damage 30 Very rare (1%) HP:0003079

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.19 DDB2 ERCC4 ERCC5 ERCC6 XRCC1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.19 DDB2 ERCC1 ERCC4 ERCC5 ERCC6 EXO1
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.19 DDB2 ERCC1 ERCC4 ERCC5 ERCC6 EXO1

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.28 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
2 growth/size/body region MP:0005378 10.28 CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3
3 neoplasm MP:0002006 10.22 DDB2 ERCC1 ERCC2 ERCC3 ERCC6 EXO1
4 nervous system MP:0003631 10.2 CETN2 DDB1 ERCC1 ERCC2 ERCC3 ERCC6
5 cellular MP:0005384 10.2 CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3
6 endocrine/exocrine gland MP:0005379 10.07 DDB1 ERCC1 ERCC2 ERCC3 EXO1 FEN1
7 reproductive system MP:0005389 9.96 CETN2 DDB1 ERCC1 ERCC2 ERCC3 EXO1
8 mortality/aging MP:0010768 9.86 CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3
9 vision/eye MP:0005391 9.81 CETN2 DDB1 ERCC1 ERCC2 ERCC4 ERCC6
10 integument MP:0010771 9.36 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC5

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 28 ERCC5

Anatomical Context for Xeroderma Pigmentosum, Complementation Group G

Organs/tissues related to Xeroderma Pigmentosum, Complementation Group G:

MalaCards : Skin, Brain, Lung, Breast

Publications for Xeroderma Pigmentosum, Complementation Group G

Articles related to Xeroderma Pigmentosum, Complementation Group G:

(show top 50) (show all 177)
# Title Authors PMID Year
1
Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress. 62 57 5
23255472 2013
2
The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity. 62 57 5
11841555 2002
3
Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. 62 57 5
11228268 2001
4
A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. 62 57 5
9096355 1997
5
Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. 62 57 5
8317483 1993
6
Studies on a new case of xeroderma pigmentosum (XP3BR) from complementation group G with cellular sensitivity to ionizing radiation. 57 5
11219864 1980
7
A seventh complementation group in excision-deficient xeroderma pigmentosum. 57 5
492197 1979
8
Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. 53 62 5
7951246 1994
9
XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients. 62 5
17466625 2007
10
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. 62 5
12060391 2002
11
Conserved residues of human XPG protein important for nuclease activity and function in nucleotide excision repair. 62 5
10026181 1999
12
Xeroderma pigmentosum complementation group G--report of two cases. 62 57
3620347 1987
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. 5
15082767 2004
14
Human nucleotide excision repair syndromes: molecular clues to unexpected intricacies. 57
7734202 1994
15
Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome. 5
2478446 1989
16
A mild form of xeroderma pigmentosum assigned to complementation group G and its repair heterogeneity. 57
4031543 1985
17
Xeroderma pigmentosum--a unique variant with neurological involvement. 5
698095 1978
18
UV-induced apoptosis in XPG-deficient fibroblasts involves activation of CD95 and caspases but not p53. 53 62
17208056 2007
19
Relationships between genetic polymorphisms and anticancer drug cytotoxicity vis-à-vis the NCI-60 panel. 53 62
16981845 2006
20
Single nucleotide patch base excision repair is the major pathway for removal of thymine glycol from DNA in human cell extracts. 53 62
10766805 2000
21
The Drosophila ortholog of the human XPG gene. 53 62
10395909 1999
22
Involvement of Xeroderma Pigmentosum Complementation Group G (XPG) in epigenetic regulation of T-Helper (TH) cell differentiation during breast cancer. 62
36037675 2022
23
XPG in the Nucleotide Excision Repair and Beyond: a study on the different functional aspects of XPG and its associated diseases. 62
35596054 2022
24
Protective role of electrophile-reactive glutathione for DNA damage repair inhibitory effect of dibromoacetonitrile. 62
35725084 2022
25
XPG: a multitasking genome caretaker. 62
35230528 2022
26
Inhibition of nucleotide excision repair and damage response signaling by dibromoacetonitrile: A novel genotoxicity mechanism of a water disinfection byproduct. 62
34844342 2022
27
In silico identification of therapeutic compounds against microRNA targets in drug-resistant pancreatic ductal adenocarcinoma. 62
32579088 2021
28
XPG gene polymorphisms and glioma susceptibility: a two-centre case-control study. 62
33393424 2021
29
Modulation of DNA damage by XPF, XPG and ERCC1 gene polymorphisms in pesticide-exposed agricultural workers of Punjab, North-West India. 62
33551103 2021
30
Inhibition of penicillin-binding protein 2a (PBP2a) in methicillin resistant Staphylococcus aureus (MRSA) by combination of oxacillin and a bioactive compound from Ramalinaroesleri. 62
33278518 2021
31
XPG is Modulated by miR-4715-3p and rs873601 Genotypes in Lung Cancer. 62
33907465 2021
32
The crystal structure of human XPG, the xeroderma pigmentosum group G endonuclease, provides insight into nucleotide excision DNA repair. 62
32821917 2020
33
Novel mutation identified in the DDB2 gene in patients with xeroderma pigmentosum group-E. 62
32530099 2020
34
Rare exon 10 deletion in POLH gene in a family with xeroderma pigmentosum variant correlating with protein expression by immunohistochemistry. 62
32635709 2020
35
Human XPG nuclease structure, assembly, and activities with insights for neurodegeneration and cancer from pathogenic mutations. 62
32522879 2020
36
Sunlight, Vitamin D, and Xeroderma Pigmentosum. 62
32918226 2020
37
Association of XPG rs2094258 polymorphism with gastric cancer prognosis. 62
31558863 2019
38
XPG Asp1104His polymorphism increases colorectal cancer risk especially in Asians. 62
30899401 2019
39
Overall survival of classical Hodgkins lymphoma in Saudi patients is affected by XPG repair gene polymorphism. 62
30588297 2019
40
Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype. 62
30838033 2019
41
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features. 62
29749609 2018
42
Association between the XPG gene rs2094258 polymorphism and risk of gastric cancer. 62
29732643 2018
43
Association of XPG gene rs751402 polymorphism with gastric cancer risk: a meta-analysis in the Chinese population. 62
29148016 2018
44
Clinical and genetic characteristics of xeroderma pigmentosum in Nepal. 62
29178624 2018
45
XPG rs17655 G>C polymorphism associated with cancer risk: evidence from 60 studies. 62
29779017 2018
46
Splice variants of the endonucleases XPF and XPG contain residual DNA repair capabilities and could be a valuable tool for personalized medicine. 62
29416673 2018
47
The Association Between XPG Gene Polymorphism and Gastric Cancer Risk. 62
28832189 2017
48
Association between the polymorphisms in XPG gene and gastric cancer susceptibility in Chinese populations: A PRISMA-compliant meta-analysis. 62
29049208 2017
49
XPG gene rs751402 C>T polymorphism and cancer risk: Evidence from 22 publications. 62
28881835 2017
50
The association between XPG polymorphisms and cancer susceptibility: Evidence from observational studies. 62
28796034 2017

Variations for Xeroderma Pigmentosum, Complementation Group G

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

5 (show top 50) (show all 149)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.2573T>C (p.Leu858Pro) SNV Pathogenic
16573 rs121434575 GRCh37: 13:103520502-103520502
GRCh38: 13:102868152-102868152
2 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.1494del (p.Asp499fs) DEL Pathogenic
16575 rs786200920 GRCh37: 13:103514990-103514990
GRCh38: 13:102862640-102862640
3 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.2751del (p.Lys917fs) DEL Pathogenic
16576 rs752661599 GRCh37: 13:103524612-103524612
GRCh38: 13:102872262-102872262
4 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.406C>T (p.Gln136Ter) SNV Pathogenic
16578 rs121434577 GRCh37: 13:103506663-103506663
GRCh38: 13:102854313-102854313
5 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.83C>A (p.Ala28Asp) SNV Pathogenic
41495 rs267607281 GRCh37: 13:103498699-103498699
GRCh38: 13:102846349-102846349
6 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.2904G>C (p.Trp968Cys) SNV Pathogenic
41496 rs267607280 GRCh37: 13:103525633-103525633
GRCh38: 13:102873283-102873283
7 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.2878G>T (p.Glu960Ter) SNV Pathogenic
16566 rs121434570 GRCh37: 13:103524747-103524747
GRCh38: 13:102872397-102872397
8 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.840_841dup (p.Val281fs) MICROSAT Pathogenic
802997 rs1595382501 GRCh37: 13:103514020-103514021
GRCh38: 13:102861670-102861671
9 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.1115_1118del (p.Arg372fs) DEL Pathogenic
16574 rs786200919 GRCh37: 13:103514613-103514616
GRCh38: 13:102862263-102862266
10 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.787C>T (p.Arg263Ter) SNV Pathogenic
16570 rs121434572 GRCh37: 13:103513971-103513971
GRCh38: 13:102861621-102861621
11 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.1975del (p.Ser659fs) DEL Pathogenic
1696064 GRCh37: 13:103518035-103518035
GRCh38: 13:102865685-102865685
12 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.526C>T (p.Gln176Ter) SNV Pathogenic
16571 rs121434573 GRCh37: 13:103508460-103508460
GRCh38: 13:102856110-102856110
13 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.215C>A (p.Pro72His) SNV Pathogenic
16572 rs121434574 GRCh37: 13:103504594-103504594
GRCh38: 13:102852244-102852244
14 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
15 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.2353C>T (p.Gln785Ter) SNV Likely Pathogenic
522358 rs1244074570 GRCh37: 13:103519015-103519015
GRCh38: 13:102866665-102866665
16 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.2392G>T (p.Asp798Tyr) SNV Likely Pathogenic
1252023 GRCh37: 13:103519054-103519054
GRCh38: 13:102866704-102866704
17 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.3428C>T (p.Ala1143Val) SNV Conflicting Interpretations Of Pathogenicity
310941 rs376411022 GRCh37: 13:103528120-103528120
GRCh38: 13:102875770-102875770
18 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val) SNV Conflicting Interpretations Of Pathogenicity
134169 rs2227871 GRCh37: 13:103528048-103528048
GRCh38: 13:102875698-102875698
19 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln) SNV Conflicting Interpretations Of Pathogenicity
134185 rs61749896 GRCh37: 13:103513972-103513972
GRCh38: 13:102861622-102861622
20 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.1641C>T (p.Asn547=) SNV Conflicting Interpretations Of Pathogenicity
310924 rs200615101 GRCh37: 13:103515140-103515140
GRCh38: 13:102862790-102862790
21 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.1110T>A (p.Arg370=) SNV Conflicting Interpretations Of Pathogenicity
310918 rs150791877 GRCh37: 13:103514609-103514609
GRCh38: 13:102862259-102862259
22 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu) SNV Conflicting Interpretations Of Pathogenicity
134195 rs4150319 GRCh37: 13:103515288-103515288
GRCh38: 13:102862938-102862938
23 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.2818G>A (p.Val940Met) SNV Conflicting Interpretations Of Pathogenicity
Uncertain Significance
310936 rs146344855 GRCh37: 13:103524687-103524687
GRCh38: 13:102872337-102872337
24 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
25 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.1259G>A (p.Arg420His) SNV Uncertain Significance
134193 rs143667470 GRCh37: 13:103514758-103514758
GRCh38: 13:102862408-102862408
26 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.3486C>T (p.Leu1162=) SNV Uncertain Significance
310942 rs761650522 GRCh37: 13:103528178-103528178
GRCh38: 13:102875828-102875828
27 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.664A>G (p.Met222Val) SNV Uncertain Significance
882639 rs1391956862 GRCh37: 13:103510760-103510760
GRCh38: 13:102858410-102858410
28 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.932C>G (p.Ser311Cys) SNV Uncertain Significance
883414 rs2307491 GRCh37: 13:103514431-103514431
GRCh38: 13:102862081-102862081
29 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.1030A>G (p.Thr344Ala) SNV Uncertain Significance
883415 rs142927249 GRCh37: 13:103514529-103514529
GRCh38: 13:102862179-102862179
30 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr) SNV Uncertain Significance
997612 rs201911663 GRCh37: 13:103528246-103528246
GRCh38: 13:102875896-102875896
31 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.1917A>G (p.Glu639=) SNV Uncertain Significance
310925 rs765554006 GRCh37: 13:103515416-103515416
GRCh38: 13:102863066-102863066
32 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.2190T>C (p.Asp730=) SNV Uncertain Significance
310928 rs148103512 GRCh37: 13:103518252-103518252
GRCh38: 13:102865902-102865902
33 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.2534-10T>G SNV Uncertain Significance
310933 rs199562917 GRCh37: 13:103520453-103520453
GRCh38: 13:102868103-102868103
34 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.2995T>G (p.Leu999Val) SNV Uncertain Significance
134175 rs368550097 GRCh37: 13:103527687-103527687
GRCh38: 13:102875337-102875337
35 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.1287T>C (p.Asp429=) SNV Uncertain Significance
310921 rs146853061 GRCh37: 13:103514786-103514786
GRCh38: 13:102862436-102862436
36 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.3003A>G (p.Gln1001=) SNV Uncertain Significance
310939 rs886049942 GRCh37: 13:103527695-103527695
GRCh38: 13:102875345-102875345
37 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.380+3A>T SNV Uncertain Significance
1705488 GRCh37: 13:103506225-103506225
GRCh38: 13:102853875-102853875
38 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.56C>T (p.Pro19Leu) SNV Uncertain Significance
134159 rs34291397 GRCh37: 13:103498672-103498672
GRCh38: 13:102846322-102846322
39 ERCC5, BIVM-ERCC5 NM_000123.3(ERCC5):c.-241G>C SNV Uncertain Significance
310905 rs4150249 GRCh37: 13:103498376-103498376
GRCh38: 13:102846026-102846026
40 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.1131T>A (p.Ala377=) SNV Uncertain Significance
310919 rs764744058 GRCh37: 13:103514630-103514630
GRCh38: 13:102862280-102862280
41 ERCC5, BIVM-ERCC5 NM_000123.3(ERCC5):c.-380C>T SNV Uncertain Significance
882587 rs1331645993 GRCh37: 13:103498237-103498237
GRCh38: 13:102845887-102845887
42 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.2280C>T (p.Ile760=) SNV Uncertain Significance
744000 rs773823921 GRCh37: 13:103518692-103518692
GRCh38: 13:102866342-102866342
43 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.3427G>A (p.Ala1143Thr) SNV Uncertain Significance
134174 rs55798001 GRCh37: 13:103528119-103528119
GRCh38: 13:102875769-102875769
44 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.3492C>T (p.Thr1164=) SNV Uncertain Significance
719027 rs148782406 GRCh37: 13:103528184-103528184
GRCh38: 13:102875834-102875834
45 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.2800G>A (p.Glu934Lys) SNV Uncertain Significance
727862 rs201274165 GRCh37: 13:103524669-103524669
GRCh38: 13:102872319-102872319
46 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.592C>A (p.Pro198Thr) SNV Uncertain Significance
134179 rs141369732 GRCh37: 13:103510688-103510688
GRCh38: 13:102858338-102858338
47 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.294G>A (p.Ala98=) SNV Uncertain Significance
740330 rs780506840 GRCh37: 13:103506136-103506136
GRCh38: 13:102853786-102853786
48 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.1460C>T (p.Pro487Leu) SNV Uncertain Significance
310922 rs560626350 GRCh37: 13:103514959-103514959
GRCh38: 13:102862609-102862609
49 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.3106G>A (p.Ala1036Thr) SNV Uncertain Significance
134171 rs144208043 GRCh37: 13:103527798-103527798
GRCh38: 13:102875448-102875448
50 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.32A>C (p.Glu11Ala) SNV Uncertain Significance
881013 rs1266019512 GRCh37: 13:103498648-103498648
GRCh38: 13:102846298-102846298

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

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
13.13 XRCC1 XPC XPA UVSSA RAD23B LIG1
2
Show member pathways
12.93 CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3
3
Show member pathways
12.74 XRCC1 XPC XPA UVSSA RAD23B LIG1
4
Show member pathways
12.26 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
5
Show member pathways
12.16 XRCC1 LIG1 FEN1 EXO1
6 11.83 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
7 11.64 XPC ERCC5 DDB2
8
Show member pathways
11.6 ERCC6 ERCC3 ERCC2
9 11.52 XPA FEN1 EXO1
10 11.44 XPC XPA ERCC3 ERCC2
11 11.31 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 XPA

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 12)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.63 BIVM-ERCC5 CETN2 DDB1 DDB2 ERCC1 ERCC2
2 nucleoplasm GO:0005654 10.21 CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3
3 chromosome, telomeric region GO:0000781 10.13 DDB1 ERCC1 ERCC4 FEN1 XRCC1
4 chromosome GO:0005694 10 XPC UVSSA H2AC18 ERCC5 ERCC4 DDB2
5 site of DNA damage GO:0090734 9.97 DDB2 ERCC6 XPC XRCC1
6 transcription factor TFIIH core complex GO:0000439 9.81 ERCC3 ERCC2
7 ERCC4-ERCC1 complex GO:0070522 9.8 XRCC1 ERCC4 ERCC1
8 Cul4B-RING E3 ubiquitin ligase complex GO:0031465 9.78 DDB2 DDB1
9 XPC complex GO:0071942 9.73 XPC RAD23B CETN2
10 nucleotide-excision repair factor 1 complex GO:0000110 9.63 XPA ERCC4 ERCC1
11 DNA replication factor A complex GO:0005662 9.49 XPA ERCC5
12 nucleotide-excision repair complex GO:0000109 9.23 XPC ERCC5 ERCC4 ERCC1

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 10.32 XRCC1 XPC XPA UVSSA RAD23B LIG1
2 cellular response to DNA damage stimulus GO:0006974 10.28 EXO1 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
3 response to oxidative stress GO:0006979 10.23 ERCC6 ERCC3 ERCC2 ERCC1
4 double-strand break repair via homologous recombination GO:0000724 10.19 ERCC4 ERCC5 FEN1 GEN1
5 response to UV GO:0009411 10.13 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
6 cellular response to UV GO:0034644 10.12 ERCC4 DDB2 DDB1
7 embryonic organ development GO:0048568 10.1 RAD23B ERCC3 ERCC1
8 double-strand break repair via nonhomologous end joining GO:0006303 10.1 ERCC1 ERCC4 XRCC1
9 UV-damage excision repair GO:0070914 10.1 XPC XPA ERCC1 DDB2 DDB1
10 base-excision repair GO:0006284 10.09 ERCC6 FEN1 LIG1 XPA XRCC1
11 mismatch repair GO:0006298 10.08 XPC LIG1 EXO1
12 nucleic acid phosphodiester bond hydrolysis GO:0090305 10.08 GEN1 FEN1 EXO1 ERCC5 ERCC4 BIVM-ERCC5
13 transcription-coupled nucleotide-excision repair GO:0006283 10.07 UVSSA ERCC6 ERCC5 ERCC3 ERCC2
14 regulation of mitotic cell cycle phase transition GO:1901990 10.06 XPC ERCC3 ERCC2 DDB1
15 telomeric DNA-containing double minutes formation GO:0061819 9.99 ERCC1 ERCC4 XRCC1
16 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.97 ERCC1 ERCC4 XRCC1
17 single strand break repair GO:0000012 9.95 XRCC1 ERCC6
18 response to UV-B GO:0010224 9.94 XPC ERCC6
19 hair cell differentiation GO:0035315 9.94 ERCC3 ERCC2
20 obsolete nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.93 ERCC5 ERCC4 ERCC1
21 negative regulation of telomere maintenance GO:0032205 9.92 ERCC4 ERCC1
22 transcription elongation by RNA polymerase I GO:0006362 9.91 ERCC6 ERCC2
23 pyrimidine dimer repair GO:0006290 9.91 ERCC6 DDB2
24 pyrimidine dimer repair by nucleotide-excision repair GO:0000720 9.89 XPC ERCC1
25 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.88 XPA ERCC4
26 obsolete nucleotide-excision repair, DNA incision GO:0033683 9.83 ERCC2 ERCC3 XPA
27 UV protection GO:0009650 9.77 XPA FEN1 ERCC5 ERCC4 ERCC3 ERCC2
28 obsolete nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.74 ERCC5 ERCC4
29 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.73 ERCC3 ERCC2
30 nucleic acid metabolic process GO:0090304 9.72 ERCC5 ERCC2 BIVM-ERCC5
31 nucleotide-excision repair GO:0006289 9.66 XPC XPA RAD23B ERCC5 ERCC4 ERCC3

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 10.29 XPC ERCC6 ERCC5 DDB2 DDB1
2 protein C-terminus binding GO:0008022 10.21 ERCC6 ERCC4 ERCC3 ERCC2 ERCC1
3 protein N-terminus binding GO:0047485 10.16 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
4 hydrolase activity GO:0016787 10.13 BIVM-ERCC5 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
5 DNA binding GO:0003677 10.07 BIVM-ERCC5 DDB1 DDB2 ERCC1 ERCC2 ERCC3
6 promoter-specific chromatin binding GO:1990841 10.06 ERCC1 ERCC3 ERCC4
7 single-stranded DNA binding GO:0003697 10.06 XPC RAD23B ERCC5 ERCC4 ERCC1 BIVM-ERCC5
8 catalytic activity GO:0003824 9.93 BIVM-ERCC5 ERCC5 EXO1 FEN1 GEN1
9 5'-3' exonuclease activity GO:0008409 9.91 FEN1 EXO1
10 5'-flap endonuclease activity GO:0017108 9.91 EXO1 FEN1 GEN1
11 TFIID-class transcription factor complex binding GO:0001094 9.9 ERCC4 ERCC1
12 RNA-DNA hybrid ribonuclease activity GO:0004523 9.88 FEN1 EXO1
13 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.87 ERCC4 ERCC1
14 bubble DNA binding GO:0000405 9.86 XPC ERCC5
15 DNA helicase activity GO:0003678 9.85 ERCC6 ERCC3 ERCC2
16 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.85 XRCC1 ERCC4 ERCC1
17 DNA damage sensor activity GO:0140612 9.83 XPC RAD23B
18 flap endonuclease activity GO:0048256 9.8 FEN1 EXO1
19 endonuclease activity GO:0004519 9.76 GEN1 FEN1 EXO1 ERCC5 ERCC4 BIVM-ERCC5
20 nuclease activity GO:0004518 9.73 BIVM-ERCC5 ERCC4 ERCC5 EXO1 FEN1 GEN1
21 hydrolase activity, acting on ester bonds GO:0016788 9.71 FEN1 EXO1 ERCC5 BIVM-ERCC5
22 damaged DNA binding GO:0003684 9.68 XRCC1 XPC XPA RAD23B FEN1 ERCC5

Sources for Xeroderma Pigmentosum, Complementation Group G

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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