XP-G
MCID: XRD023
MIFTS: 52

Xeroderma Pigmentosum, Complementation Group G (XP-G)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare 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 55 40
Xeroderma Pigmentosum, Group G 57 29 13 6 73
Xeroderma Pigmentosum Vii 57 12 53 75
Xp7 57 12 53 75
Xpg 57 12 53
Xeroderma Pigmentosum Complementation Group G 53 75
Xeroderma Pigmentosum Group G 12 15
Xp Group G 12 75
Xeroderma Pigmentosum, Group G/cockayne Syndrome 57
Xeroderma Pigmentosum Group G/cockayne Syndrome 6
Xeroderma Pigmentosum Vii; Xp7 57
Xeroderma Pigmentosum, Type 7 76
Xeroderma Pigmentosum Type 7 53
Xp, Group G; Xpgc 57
Xp, Group G 57
Xp-G/cs 75
Xpgc 57
Xp-G 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
some patients have no neurologic abnormalities


HPO:

32
xeroderma pigmentosum, complementation group g:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Xeroderma Pigmentosum, Complementation Group G

UniProtKB/Swiss-Prot : 75 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 xeroderma pigmentosum, complementation group a and cerebro-oculo-facio-skeletal syndrome. An important gene associated with Xeroderma Pigmentosum, Complementation Group G is ERCC5 (ERCC Excision Repair 5, Endonuclease), and among its related pathways/superpathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Chks in Checkpoint Regulation. Affiliated tissues include skin, brain and testes, and related phenotypes are ataxia and spasticity

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)

Wikipedia : 76 Xeroderma pigmentosum (XP) is a genetic disorder (autosomal recessive) in which there is a decreased... more...

Related Diseases for Xeroderma Pigmentosum, Complementation Group G

Diseases in the Xeroderma Pigmentosum, Complementation Group D family:

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

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

(show all 48)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, complementation group a 31.8 ERCC1 XPA
2 cerebro-oculo-facio-skeletal syndrome 31.1 ERCC1 ERCC3 ERCC4 ERCC5
3 cockayne syndrome 29.4 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 XPA
4 xeroderma pigmentosum, variant type 29.2 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 FEN1
5 cockayne syndrome type ii 11.1
6 lung cancer 10.4
7 small cell cancer of the lung 10.4
8 gastric cancer 10.3
9 breast cancer 10.2
10 melanoma 10.2
11 colorectal cancer 10.1
12 cockayne syndrome a 10.1 ERCC4 ERCC5
13 xfe progeroid syndrome 10.1 ERCC1 ERCC4
14 bladder cancer 10.0
15 ovarian cancer 10.0
16 leukemia 10.0
17 fanconi anemia, complementation group q 10.0 ERCC1 ERCC4
18 fanconi anemia, complementation group r 10.0 ERCC1 ERCC4
19 acoustic neuroma 10.0 ERCC4 ERCC5
20 autosomal genetic disease 10.0 ERCC1 XPA XRCC1
21 diffuse gastric cancer 10.0 ERCC1 XRCC3
22 xeroderma pigmentosum, complementation group e 10.0 DDB2 ERCC5 XPA
23 xeroderma pigmentosum group e 9.9 DDB2 RAD23B XPA
24 fanconi anemia, complementation group a 9.9 ERCC1 ERCC4 FEN1
25 hepatocellular carcinoma 9.9
26 leiomyoma, uterine 9.9
27 prostate cancer 9.9
28 suppressor of tumorigenicity 3 9.9
29 neuroblastoma 9.9
30 werner syndrome 9.9
31 leukemia, acute myeloid 9.9
32 lung cancer susceptibility 1 9.9
33 pre-eclampsia 9.9
34 sarcoma 9.9
35 leiomyoma 9.9
36 adenocarcinoma 9.9
37 gastric cardia adenocarcinoma 9.9
38 myeloid leukemia 9.9
39 skin melanoma 9.9
40 uv-sensitive syndrome 9.9 ERCC3 ERCC5 FEN1
41 fanconi anemia, complementation group t 9.9 ERCC1 ERCC4
42 mutagen sensitivity 9.9 RAD23B XPA XRCC1 XRCC3
43 basal cell carcinoma 9.8 ERCC1 XPA XRCC1 XRCC3
44 trichothiodystrophy 1, photosensitive 9.8 ERCC1 ERCC3 ERCC5 XPA
45 xeroderma pigmentosum, complementation group b 9.7 ERCC1 ERCC3 ERCC5 RAD23B XPA
46 xeroderma pigmentosum, complementation group c 9.6 DDB2 ERCC3 RAD23B XPA
47 xeroderma pigmentosum, complementation group d 9.4 ERCC1 ERCC3 RAD23B XPA XRCC1 XRCC3
48 xeroderma pigmentosum, complementation group f 9.4 DDB2 ERCC1 ERCC4 ERCC5 RAD23B XPA

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

Symptoms via clinical synopsis from OMIM:

57
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)

Growth Other:
poor growth (in some patients)

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)

Laboratory Abnormalities:
defective dna repair after ultraviolet radiation damage


Clinical features from OMIM:

278780

Human phenotypes related to Xeroderma Pigmentosum, Complementation Group G:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 ataxia 32 occasional (7.5%) HP:0001251
2 spasticity 32 occasional (7.5%) HP:0001257
3 tremor 32 occasional (7.5%) HP:0001337
4 cataract 32 occasional (7.5%) HP:0000518
5 microcephaly 32 occasional (7.5%) HP:0000252
6 growth delay 32 occasional (7.5%) HP:0001510
7 pes cavus 32 occasional (7.5%) HP:0001761
8 microphthalmia 32 occasional (7.5%) HP:0000568
9 cutaneous photosensitivity 32 HP:0000992
10 defective dna repair after ultraviolet radiation damage 32 HP:0003079

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

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.93 DDB2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.93 EXO1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.93 ERCC1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.93 DDB2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.93 ERCC1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.93 DDB2 ERCC1 EXO1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.93 ERCC1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.93 EXO1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.93 EXO1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.93 DDB2
11 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.83 DDB2 ERCC1 ERCC4 ERCC5 EXO1 FEN1
12 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.83 DDB2 ERCC1 ERCC4 ERCC5 EXO1 FEN1
13 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.73 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.09 DDB2 ERCC1 ERCC3 ERCC4 EXO1 FEN1
2 growth/size/body region MP:0005378 10.02 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 FEN1
3 mortality/aging MP:0010768 9.9 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1
4 endocrine/exocrine gland MP:0005379 9.88 ERCC1 ERCC3 EXO1 FEN1 RAD23B XPA
5 integument MP:0010771 9.8 DDB2 ERCC1 ERCC3 ERCC5 RAD23B XPA
6 liver/biliary system MP:0005370 9.65 ERCC1 ERCC4 ERCC5 FEN1 XPA
7 neoplasm MP:0002006 9.5 DDB2 ERCC1 ERCC3 EXO1 FEN1 XPA
8 reproductive system MP:0005389 9.1 ERCC1 ERCC3 EXO1 FEN1 RAD23B XPA

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:

41
Skin, Brain, Testes, Lung, Prostate, Myeloid

Publications for Xeroderma Pigmentosum, Complementation Group G

Articles related to Xeroderma Pigmentosum, Complementation Group G:

(show all 24)
# Title Authors Year
1
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features. ( 29749609 )
2018
2
Novel germline ERCC5 mutations identified in a xeroderma pigmentosum complementation group G pedigree. ( 27051686 )
2015
3
Association of xeroderma pigmentosum complementation group G Asp1104His polymorphism with breast cancer risk: A cumulative meta-analysis. ( 25279219 )
2014
4
Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities. ( 22417308 )
2012
5
Xeroderma pigmentosum complementation group G in association with malignant melanoma. ( 17951140 )
2007
6
A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. ( 17179216 )
2006
7
Polymorphism of Xeroderma Pigmentosum group G and the risk of lung cancer and squamous cell carcinomas of the oropharynx, larynx and esophagus. ( 16094634 )
2006
8
A genetic mouse model carrying the nonfunctional xeroderma pigmentosum group G gene. ( 12893972 )
2003
9
The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity. ( 11841555 )
2002
10
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. ( 12060391 )
2002
11
Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. ( 11228268 )
2001
12
Purkinje cell degeneration in mice lacking the xeroderma pigmentosum group G gene. ( 11340641 )
2001
13
Postnatal growth failure, short life span, and early onset of cellular senescence and subsequent immortalization in mice lacking the xeroderma pigmentosum group G gene. ( 10022922 )
1999
14
Physical and genetic linkage of glutaminase (Gls), signal transducer and activator of transcription 1 (Stat1), and xeroderma pigmentosum complementation group G (Xpg) on mouse proximal chromosome 1. ( 9828143 )
1998
15
Heritable genetic alterations in a xeroderma pigmentosum group G/Cockayne syndrome pedigree. ( 9447232 )
1997
16
A common mutational pattern in Cockayne syndrome patients from Xeroderma pigmentosum group G: implications for a second XPG function. ( 9096355 )
1997
17
DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and cockayne syndrome resemble xeroderma pigmentosum cells. ( 8823375 )
1996
18
Human Xeroderma pigmentosum group G gene encodes a DNA endonuclease. ( 8078765 )
1994
19
The human gene for Xeroderma pigmentosum complementation group G (XPG) maps to 13q33 by fluorescence in situ hybridization. ( 8088806 )
1994
20
Mutations that disable the DNA repair gene XPG in a Xeroderma pigmentosum group G patient. ( 7951246 )
1994
21
Defective repair of ionizing radiation damage in Cockayne's syndrome and xeroderma pigmentosum group G. ( 8092696 )
1994
22
Complementation of the DNA repair defect in Xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2. ( 8483504 )
1993
23
Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. ( 8317483 )
1993
24
Identical defects in DNA repair in xeroderma pigmentosum group G and rodent ERCC group 5. ( 8483505 )
1993

Variations for Xeroderma Pigmentosum, Complementation Group G

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

75
# 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

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

6 (show top 50) (show all 67)
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC5 ERCC5, 1-BP DEL, 2170A deletion Pathogenic
2 ERCC5 NM_000123.3(ERCC5): c.787C> T (p.Arg263Ter) single nucleotide variant Pathogenic rs121434572 GRCh37 Chromosome 13, 103513971: 103513971
3 ERCC5 NM_000123.3(ERCC5): c.2878G> T (p.Glu960Ter) single nucleotide variant Pathogenic rs121434570 GRCh37 Chromosome 13, 103524747: 103524747
4 ERCC5 NM_000123.3(ERCC5): c.2878G> T (p.Glu960Ter) single nucleotide variant Pathogenic rs121434570 GRCh38 Chromosome 13, 102872397: 102872397
5 ERCC5 NM_000123.3(ERCC5): c.2375C> T (p.Ala792Val) single nucleotide variant Pathogenic rs121434571 GRCh37 Chromosome 13, 103519037: 103519037
6 ERCC5 NM_000123.3(ERCC5): c.2375C> T (p.Ala792Val) single nucleotide variant Pathogenic rs121434571 GRCh38 Chromosome 13, 102866687: 102866687
7 ERCC5 NM_000123.3(ERCC5): c.787C> T (p.Arg263Ter) single nucleotide variant Pathogenic rs121434572 GRCh38 Chromosome 13, 102861621: 102861621
8 ERCC5 NM_000123.3(ERCC5): c.526C> T (p.Gln176Ter) single nucleotide variant Pathogenic rs121434573 GRCh37 Chromosome 13, 103508460: 103508460
9 ERCC5 NM_000123.3(ERCC5): c.526C> T (p.Gln176Ter) single nucleotide variant Pathogenic rs121434573 GRCh38 Chromosome 13, 102856110: 102856110
10 ERCC5 NM_000123.3(ERCC5): c.215C> A (p.Pro72His) single nucleotide variant Pathogenic rs121434574 GRCh37 Chromosome 13, 103504594: 103504594
11 ERCC5 NM_000123.3(ERCC5): c.215C> A (p.Pro72His) single nucleotide variant Pathogenic rs121434574 GRCh38 Chromosome 13, 102852244: 102852244
12 ERCC5 NM_000123.3(ERCC5): c.2573T> C (p.Leu858Pro) single nucleotide variant Pathogenic rs121434575 GRCh37 Chromosome 13, 103520502: 103520502
13 ERCC5 NM_000123.3(ERCC5): c.2573T> C (p.Leu858Pro) single nucleotide variant Pathogenic rs121434575 GRCh38 Chromosome 13, 102868152: 102868152
14 ERCC5 NM_000123.3(ERCC5): c.1115_1118delGGAA (p.Arg372Thrfs) deletion Pathogenic rs786200919 GRCh37 Chromosome 13, 103514614: 103514617
15 ERCC5 NM_000123.3(ERCC5): c.1115_1118delGGAA (p.Arg372Thrfs) deletion Pathogenic rs786200919 GRCh38 Chromosome 13, 102862264: 102862267
16 ERCC5 NM_000123.3(ERCC5): c.1494delA (p.Asp499Ilefs) deletion Pathogenic rs786200920 GRCh37 Chromosome 13, 103514993: 103514993
17 ERCC5 NM_000123.3(ERCC5): c.1494delA (p.Asp499Ilefs) deletion Pathogenic rs786200920 GRCh38 Chromosome 13, 102862643: 102862643
18 ERCC5 NM_000123.3(ERCC5): c.2751delA (p.Lys917Asnfs) deletion Pathogenic rs786200921 GRCh37 Chromosome 13, 103524620: 103524620
19 ERCC5 NM_000123.3(ERCC5): c.2751delA (p.Lys917Asnfs) deletion Pathogenic rs786200921 GRCh38 Chromosome 13, 102872270: 102872270
20 ERCC5 NM_000123.3(ERCC5): c.2620G> A (p.Ala874Thr) single nucleotide variant Uncertain significance rs121434576 GRCh37 Chromosome 13, 103520549: 103520549
21 ERCC5 NM_000123.3(ERCC5): c.2620G> A (p.Ala874Thr) single nucleotide variant Uncertain significance rs121434576 GRCh38 Chromosome 13, 102868199: 102868199
22 ERCC5 NM_000123.3(ERCC5): c.406C> T (p.Gln136Ter) single nucleotide variant Pathogenic rs121434577 GRCh37 Chromosome 13, 103506663: 103506663
23 ERCC5 NM_000123.3(ERCC5): c.406C> T (p.Gln136Ter) single nucleotide variant Pathogenic rs121434577 GRCh38 Chromosome 13, 102854313: 102854313
24 ERCC5 NM_000123.3(ERCC5): c.83C> A (p.Ala28Asp) single nucleotide variant Pathogenic rs267607281 GRCh37 Chromosome 13, 103498699: 103498699
25 ERCC5 NM_000123.3(ERCC5): c.83C> A (p.Ala28Asp) single nucleotide variant Pathogenic rs267607281 GRCh38 Chromosome 13, 102846349: 102846349
26 ERCC5 NM_000123.3(ERCC5): c.2904G> C (p.Trp968Cys) single nucleotide variant Pathogenic rs267607280 GRCh37 Chromosome 13, 103525633: 103525633
27 ERCC5 NM_000123.3(ERCC5): c.2904G> C (p.Trp968Cys) single nucleotide variant Pathogenic rs267607280 GRCh38 Chromosome 13, 102873283: 102873283
28 ERCC5 NM_000123.3(ERCC5): c.138T> C (p.His46=) single nucleotide variant Benign rs1047768 GRCh37 Chromosome 13, 103504517: 103504517
29 ERCC5 NM_000123.3(ERCC5): c.138T> C (p.His46=) single nucleotide variant Benign rs1047768 GRCh38 Chromosome 13, 102852167: 102852167
30 ERCC5 NM_000123.3(ERCC5): c.1586G> C (p.Cys529Ser) single nucleotide variant Benign/Likely benign rs2227869 GRCh37 Chromosome 13, 103515085: 103515085
31 ERCC5 NM_000123.3(ERCC5): c.1586G> C (p.Cys529Ser) single nucleotide variant Benign/Likely benign rs2227869 GRCh38 Chromosome 13, 102862735: 102862735
32 ERCC5 NM_000123.3(ERCC5): c.3310G> C (p.Asp1104His) single nucleotide variant Benign rs17655 GRCh37 Chromosome 13, 103528002: 103528002
33 ERCC5 NM_000123.3(ERCC5): c.3310G> C (p.Asp1104His) single nucleotide variant Benign rs17655 GRCh38 Chromosome 13, 102875652: 102875652
34 ERCC5 NM_000123.3(ERCC5): c.760A> G (p.Met254Val) single nucleotide variant Benign/Likely benign rs1047769 GRCh37 Chromosome 13, 103513944: 103513944
35 ERCC5 NM_000123.3(ERCC5): c.760A> G (p.Met254Val) single nucleotide variant Benign/Likely benign rs1047769 GRCh38 Chromosome 13, 102861594: 102861594
36 ERCC5 NM_000123.3(ERCC5): c.2281G> A (p.Ala761Thr) single nucleotide variant Uncertain significance rs142438319 GRCh37 Chromosome 13, 103518693: 103518693
37 ERCC5 NM_000123.3(ERCC5): c.2281G> A (p.Ala761Thr) single nucleotide variant Uncertain significance rs142438319 GRCh38 Chromosome 13, 102866343: 102866343
38 ERCC5 NM_000123.3(ERCC5): c.767A> G (p.Gln256Arg) single nucleotide variant Likely benign rs4150313 GRCh37 Chromosome 13, 103513951: 103513951
39 ERCC5 NM_000123.3(ERCC5): c.767A> G (p.Gln256Arg) single nucleotide variant Likely benign rs4150313 GRCh38 Chromosome 13, 102861601: 102861601
40 ERCC5 NM_000123.3(ERCC5): c.1789G> C (p.Val597Leu) single nucleotide variant Likely benign rs4150319 GRCh37 Chromosome 13, 103515288: 103515288
41 ERCC5 NM_000123.3(ERCC5): c.1789G> C (p.Val597Leu) single nucleotide variant Likely benign rs4150319 GRCh38 Chromosome 13, 102862938: 102862938
42 ERCC5 NM_000123.3(ERCC5): c.3238C> T (p.Arg1080Ter) single nucleotide variant Likely pathogenic rs9514067 GRCh37 Chromosome 13, 103527930: 103527930
43 ERCC5 NM_000123.3(ERCC5): c.3238C> T (p.Arg1080Ter) single nucleotide variant Likely pathogenic rs9514067 GRCh38 Chromosome 13, 102875580: 102875580
44 ERCC5 NM_000123.3(ERCC5): c.945C> T (p.His315=) single nucleotide variant Conflicting interpretations of pathogenicity rs34061299 GRCh37 Chromosome 13, 103514444: 103514444
45 ERCC5 NM_000123.3(ERCC5): c.945C> T (p.His315=) single nucleotide variant Conflicting interpretations of pathogenicity rs34061299 GRCh38 Chromosome 13, 102862094: 102862094
46 ERCC5 NM_000123.3(ERCC5): c.1440C> T (p.His480=) single nucleotide variant Benign/Likely benign rs4150316 GRCh38 Chromosome 13, 102862589: 102862589
47 ERCC5 NM_000123.3(ERCC5): c.1440C> T (p.His480=) single nucleotide variant Benign/Likely benign rs4150316 GRCh37 Chromosome 13, 103514939: 103514939
48 ERCC5 NM_000123.3(ERCC5): c.2879+14C> T single nucleotide variant Benign rs4150360 GRCh37 Chromosome 13, 103524762: 103524762
49 ERCC5 NM_000123.3(ERCC5): c.2879+14C> T single nucleotide variant Benign rs4150360 GRCh38 Chromosome 13, 102872412: 102872412
50 ERCC5 NM_000123.3(ERCC5): c.2678+1G> A single nucleotide variant Likely pathogenic rs886044319 GRCh37 Chromosome 13, 103520608: 103520608

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.66 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 RAD23B
2
Show member pathways
12.47 ERCC1 ERCC3 ERCC4 ERCC5 FEN1 RAD23B
3
Show member pathways
12.41 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1
4 12.23 DDB2 ERCC1 ERCC3 ERCC4 FEN1 RAD23B
5
Show member pathways
12.1 ERCC1 ERCC4 EXO1 GEN1 XRCC3
6
Show member pathways
11.79 EXO1 GEN1 XRCC3
7
Show member pathways
11.56 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 RAD23B
8 11.13 ERCC1 ERCC3 ERCC4 XPA
9
Show member pathways
10.95 ERCC1 ERCC4

GO Terms for Xeroderma Pigmentosum, Complementation Group G

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

# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 9.65 ERCC1 ERCC4 FEN1 XRCC1 XRCC3
2 transcription factor TFIID complex GO:0005669 9.58 ERCC1 ERCC3 ERCC4
3 nucleotide-excision repair complex GO:0000109 9.5 ERCC1 ERCC4 ERCC5
4 DNA replication factor A complex GO:0005662 9.43 ERCC5 XPA
5 nucleoplasm GO:0005654 9.4 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1
6 ERCC4-ERCC1 complex GO:0070522 9.33 ERCC1 ERCC4 XRCC1
7 nucleotide-excision repair factor 1 complex GO:0000110 9.13 ERCC1 ERCC4 XPA
8 nucleus GO:0005634 10.15 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1

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 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.97 ERCC1 ERCC4 EXO1 FEN1 GEN1
2 transcription-coupled nucleotide-excision repair GO:0006283 9.93 ERCC1 ERCC3 ERCC4 ERCC5 XPA XRCC1
3 DNA repair GO:0006281 9.93 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1
4 double-strand break repair via homologous recombination GO:0000724 9.92 ERCC4 FEN1 GEN1 XRCC1 XRCC3
5 nucleotide-excision repair, DNA incision GO:0033683 9.91 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 XPA
6 response to UV GO:0009411 9.89 DDB2 ERCC3 ERCC4 ERCC5 XPA
7 nucleotide-excision repair, preincision complex assembly GO:0006294 9.88 DDB2 ERCC3 ERCC5 RAD23B XPA
8 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.88 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 XPA
9 global genome nucleotide-excision repair GO:0070911 9.85 DDB2 ERCC1 ERCC3 ERCC4 RAD23B XPA
10 response to oxidative stress GO:0006979 9.82 ERCC1 ERCC3 XPA
11 DNA recombination GO:0006310 9.81 ERCC1 EXO1 XRCC3
12 UV-damage excision repair GO:0070914 9.81 DDB2 ERCC1 GEN1 XPA
13 double-strand break repair via nonhomologous end joining GO:0006303 9.8 ERCC1 ERCC4 XRCC1
14 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.8 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 XPA
15 interstrand cross-link repair GO:0036297 9.79 ERCC1 ERCC4 XRCC3
16 base-excision repair GO:0006284 9.79 FEN1 XPA XRCC1
17 embryonic organ development GO:0048568 9.78 ERCC1 ERCC3 RAD23B
18 nucleotide-excision repair, DNA damage recognition GO:0000715 9.76 DDB2 RAD23B XPA
19 t-circle formation GO:0090656 9.75 ERCC1 EXO1 XRCC3
20 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.73 ERCC1 ERCC4 ERCC5
21 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.72 ERCC1 ERCC4 XRCC1
22 telomeric DNA-containing double minutes formation GO:0061819 9.71 ERCC1 ERCC4 XRCC1
23 regulation of centrosome duplication GO:0010824 9.65 GEN1 XRCC3
24 isotype switching GO:0045190 9.64 ERCC1 EXO1
25 positive regulation of mitotic cell cycle spindle assembly checkpoint GO:0090267 9.63 GEN1 XRCC3
26 negative regulation of telomere maintenance GO:0032205 9.62 ERCC1 ERCC4
27 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.6 ERCC4 XPA
28 resolution of mitotic recombination intermediates GO:0071140 9.59 GEN1 XRCC3
29 nucleotide-excision repair GO:0006289 9.5 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 RAD23B
30 UV protection GO:0009650 9.1 ERCC1 ERCC3 ERCC4 ERCC5 FEN1 XPA
31 cellular response to DNA damage stimulus GO:0006974 10.03 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.87 ERCC5 EXO1 FEN1 GEN1
2 double-stranded DNA binding GO:0003690 9.81 ERCC5 EXO1 FEN1 GEN1
3 single-stranded DNA binding GO:0003697 9.8 ERCC1 ERCC4 ERCC5 GEN1 RAD23B
4 protein C-terminus binding GO:0008022 9.79 ERCC1 ERCC3 ERCC4
5 protein N-terminus binding GO:0047485 9.77 ERCC3 ERCC4 ERCC5
6 hydrolase activity, acting on ester bonds GO:0016788 9.7 ERCC5 EXO1 FEN1
7 endodeoxyribonuclease activity GO:0004520 9.67 ERCC4 ERCC5 GEN1
8 5'-flap endonuclease activity GO:0017108 9.65 EXO1 FEN1 GEN1
9 exonuclease activity GO:0004527 9.63 EXO1 FEN1
10 nuclease activity GO:0004518 9.63 ERCC1 ERCC4 ERCC5 EXO1 FEN1 GEN1
11 DNA-dependent ATPase activity GO:0008094 9.62 ERCC3 XRCC3
12 four-way junction DNA binding GO:0000400 9.61 GEN1 XRCC3
13 single-stranded DNA 5'-3' exodeoxyribonuclease activity GO:0045145 9.61 EXO1 FEN1 GEN1
14 RNA-DNA hybrid ribonuclease activity GO:0004523 9.6 EXO1 FEN1
15 5'-3' exonuclease activity GO:0008409 9.58 EXO1 FEN1
16 TFIID-class transcription factor complex binding GO:0001094 9.58 ERCC1 ERCC4
17 crossover junction endodeoxyribonuclease activity GO:0008821 9.56 GEN1 XRCC3
18 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.55 ERCC1 ERCC4
19 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.54 ERCC1 ERCC4 XRCC1
20 double-stranded DNA 5'-3' exodeoxyribonuclease activity GO:0051908 9.5 EXO1 FEN1 GEN1
21 flap endonuclease activity GO:0048256 9.43 EXO1 FEN1 GEN1
22 endonuclease activity GO:0004519 9.43 ERCC1 ERCC4 ERCC5 EXO1 FEN1 GEN1
23 damaged DNA binding GO:0003684 9.23 DDB2 ERCC1 ERCC3 ERCC4 FEN1 RAD23B
24 protein binding GO:0005515 10.36 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1
25 DNA binding GO:0003677 10.16 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 EXO1
26 hydrolase activity GO:0016787 10.08 ERCC1 ERCC3 ERCC4 ERCC5 EXO1 FEN1

Sources for Xeroderma Pigmentosum, Complementation Group G

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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