XP-A
MCID: XRD029
MIFTS: 53

Xeroderma Pigmentosum, Complementation Group a (XP-A)

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

Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group a

MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group a:

Name: Xeroderma Pigmentosum, Complementation Group a 58 41
Xeroderma Pigmentosum, Group a 58 13 74
Xeroderma Pigmentosum, Type 1 77 30 6
Xp1 58 12 76
Xeroderma Pigmentosum Complementation Group a 12 76
Xeroderma Pigmentosum Group a 12 15
Xeroderma Pigmentosum I 58 76
Xp Group a 12 76
Xpa 58 12
Xeroderma Pigmentosum I; Xp1 58
Xeroderma Pigmentosum 1 12
Xp, Group a 58
Xp-a 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
with at least 4 loci


HPO:

33
xeroderma pigmentosum, complementation group a:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Xeroderma Pigmentosum, Complementation Group a

OMIM : 58 Xeroderma pigmentosum is a genetically heterogeneous autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Some patients develop neurologic symptoms or a more severe clinical phenotype known as de Sanctis-Cacchione syndrome (278800) (Satokata et al., 1992). See also XPB (610651), XPC (278720), XPD (278730), XPE (278740), XPF (278760), XPG (278780), and variant XP (XPV; 278750). (278700)

MalaCards based summary : Xeroderma Pigmentosum, Complementation Group a, also known as xeroderma pigmentosum, group a, is related to xeroderma pigmentosum, complementation group g and xeroderma pigmentosum, complementation group f. An important gene associated with Xeroderma Pigmentosum, Complementation Group a is XPA (XPA, DNA Damage Recognition And Repair Factor), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. Affiliated tissues include skin, brain and tongue, and related phenotypes are intellectual disability and ataxia

Disease Ontology : 12 A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has material basis in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22.

UniProtKB/Swiss-Prot : 76 Xeroderma pigmentosum complementation group A: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-A patients show the most severe skin symptoms and progressive neurological disorders.

Wikipedia : 77 Xeroderma pigmentosum (XP) is a genetic disorder (autosomal recessive) in which there is a decreased... more...

Related Diseases for Xeroderma Pigmentosum, Complementation Group a

Diseases in the Xeroderma Pigmentosum, Complementation Group a family:

Xeroderma Pigmentosum, Complementation Group C Xeroderma Pigmentosum, Complementation Group B

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

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, complementation group g 32.6 ERCC1 XPA
2 xeroderma pigmentosum, complementation group f 32.6 ERCC1 XPA
3 xeroderma pigmentosum, complementation group b 32.5 ERCC1 XPA
4 cockayne syndrome 31.7 ERCC1 PARP1 XPA
5 xeroderma pigmentosum, complementation group d 31.6 ERCC1 XPA
6 trichothiodystrophy 1, photosensitive 31.5 ERCC1 XPA
7 xeroderma pigmentosum, variant type 30.6 ERCC1 RPA1 RPA2 XPA
8 xeroderma pigmentosum, complementation group c 11.7
9 multiple self-healing squamous epithelioma 11.4
10 basal cell carcinoma 11.2
11 fanconi anemia, complementation group c 11.1
12 xeroderma pigmentosum, complementation group e 11.1
13 mutagen sensitivity 11.1
14 autosomal genetic disease 11.1
15 spasmodic dystonia 11.1
16 xeroderma pigmentosum group e 11.1
17 conjunctival degeneration 11.1
18 pinguecula 11.1
19 skin benign neoplasm 11.1
20 autosomal recessive disease 10.9
21 lung cancer 10.4
22 squamous cell carcinoma 10.2
23 skin carcinoma 10.2
24 ataxia-telangiectasia 10.1
25 basal cell carcinoma 1 10.1
26 west syndrome 10.1
27 keratosis 10.1
28 dystonia 10.1
29 lichen planus 10.1
30 spasmodic dysphonia 10.1
31 dysautonomia 10.1
32 colorectal cancer 10.0
33 ovarian cancer 10.0
34 small cell cancer of the lung 10.0
35 nasopharyngeal carcinoma 10.0
36 adenocarcinoma 10.0
37 bladder cancer 9.9
38 breast cancer 9.9
39 esophageal cancer 9.9
40 prostate cancer 9.9
41 neuroblastoma 9.9
42 neutrophil actin dysfunction 9.9
43 prostate cancer, hereditary, 8 9.9
44 cervical cancer 9.9
45 pulmonary disease, chronic obstructive 9.9
46 endometrial cancer 9.9
47 lung cancer susceptibility 1 9.9
48 prostate cancer, hereditary, 6 9.9
49 lung cancer susceptibility 3 9.9
50 leukemia, acute lymphoblastic 9.9

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



Diseases related to Xeroderma Pigmentosum, Complementation Group a

Symptoms & Phenotypes for Xeroderma Pigmentosum, Complementation Group a

Human phenotypes related to Xeroderma Pigmentosum, Complementation Group a:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 ataxia 33 HP:0001251
3 spasticity 33 HP:0001257
4 microcephaly 33 HP:0000252
5 sensorineural hearing impairment 33 HP:0000407
6 photophobia 33 HP:0000613
7 melanoma 33 HP:0002861
8 keratitis 33 HP:0000491
9 conjunctivitis 33 HP:0000509
10 mental deterioration 33 HP:0001268
11 hyporeflexia 33 HP:0001265
12 choreoathetosis 33 HP:0001266
13 cutaneous photosensitivity 33 HP:0000992
14 ectropion 33 HP:0000656
15 telangiectasia 33 HP:0001009
16 poikiloderma 33 HP:0001029
17 entropion 33 HP:0000621
18 dermal atrophy 33 HP:0004334
19 defective dna repair after ultraviolet radiation damage 33 HP:0003079

Symptoms via clinical synopsis from OMIM:

58
Neuro:
ataxia
spasticity
microcephaly
mental deterioration
hyporeflexia
more
Skin:
telangiectasia
poikiloderma
skin atrophy
keratoacanthomas
skin photosensitivity
more
Lab:
defective dna repair after ultraviolet radiation damage

Eyes:
photophobia
keratitis
conjunctivitis
ectropion
entropion

Misc:
minimal to severe neurologic features

Clinical features from OMIM:

278700

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

27 (show all 31)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.1 ERCC1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.1 NCBP1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.1 PSAP
4 Increased shRNA abundance (Z-score > 2) GR00366-A-136 10.1 RPA2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.1 ERCC1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.1 NCBP1 PARP1 RPA2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.1 ERCC1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-170 10.1 PARP1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.1 RPA2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.1 PSAP
11 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.1 NCBP1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.1 PARP1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.1 PARP1 PSAP
14 Increased shRNA abundance (Z-score > 2) GR00366-A-45 10.1 RPA2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.1 NCBP1 PSAP
16 Increased shRNA abundance (Z-score > 2) GR00366-A-6 10.1 NCBP1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.1 ERCC1 NCBP1 PARP1 PSAP RPA2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-65 10.1 NCBP1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.1 PARP1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.1 ERCC1
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 9.96 PSAP
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.96 ERCC1 HSPA1A PSAP RPA2
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.96 ERCC1
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.96 ERCC1
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.96 ERCC1
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.96 HSPA1A
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.96 RPA2
28 Decreased cell number GR00098-A-1 9.92 PARP1 PSAP RPA1 RPA2 STN1 XPA
29 Decreased cell number GR00303-A 9.92 RPA1 RPA2
30 G0/1 arrest GR00098-A-2 9.46 PARP1 RPA1 RPA2 STN1
31 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.1 ERCC1 GPN1 PARP1 RPA1 RPA2 XPA

Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group a

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

Genetic Tests for Xeroderma Pigmentosum, Complementation Group a

Genetic tests related to Xeroderma Pigmentosum, Complementation Group a:

# Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Type 1 30 XPA

Anatomical Context for Xeroderma Pigmentosum, Complementation Group a

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

42
Skin, Brain, Tongue, B Cells, Thymus

Publications for Xeroderma Pigmentosum, Complementation Group a

Articles related to Xeroderma Pigmentosum, Complementation Group a:

(show top 50) (show all 134)
# Title Authors Year
1
The redefined DNA-binding domain of human xeroderma pigmentosum complementation group A: production, crystallization and structure solution. ( 30605127 )
2019
2
Autopsy findings and clinical features of a mild-type xeroderma pigmentosum complementation group A siblings: 40 years of follow-up. ( 30809560 )
2019
3
Case of xeroderma pigmentosum group A with West syndrome. ( 29797530 )
2018
4
Meta-analysis on the association between xeroderma pigmentosum Group A A23G polymorphism and esophageal cancer in a Chinese population. ( 30539866 )
2018
5
Neurochemistry evaluated by MR spectroscopy in a patient with xeroderma pigmentosum group A. ( 30017720 )
2018
6
Increased risk of skin cancer in Japanese heterozygotes of xeroderma pigmentosum group A. ( 30089811 )
2018
7
Investigation of the probable homo-dimer model of the Xeroderma pigmentosum complementation group A (XPA) protein to represent the DNA binding core. ( 30205752 )
2018
8
Analysis of DNA binding by human factor xeroderma pigmentosum complementation group A (XPA) provides insight into its interactions with nucleotide excision repair substrates. ( 28860187 )
2017
9
An XPA gene splicing mutation resulting in trace protein expression in an elderly patient with xeroderma pigmentosum group A without neurological abnormalities. ( 27603812 )
2017
10
Lichen planus-like keratosis emerging in a pediatric case of xeroderma pigmentosum group A. ( 28464397 )
2017
11
Design and Structure-Guided Development of Novel Inhibitors of the Xeroderma Pigmentosum Group A (XPA) Protein-DNA Interaction. ( 28933851 )
2017
12
Structural dynamics and interactions of Xeroderma pigmentosum complementation group A (XPA98-210) with damaged DNA. ( 28974143 )
2017
13
Quantitative analysis of brain atrophy in patients with xeroderma pigmentosum group A carrying the founder mutation in Japan. ( 28991657 )
2017
14
Xeroderma Pigmentosum Group A Promotes Autophagy to Facilitate Cisplatin Resistance in Melanoma Cells through the Activation of PARP1. ( 26880244 )
2016
15
Circadian Rhythms of Oxidative Stress Markers and Melatonin Metabolite in Patients with Xeroderma Pigmentosum Group A. ( 27213030 )
2016
16
Xeroderma Pigmentosum Group A Suppresses Mutagenesis Caused by Clustered Oxidative DNA Adducts in the Human Genome. ( 26559182 )
2015
17
An altered redox balance and increased genetic instability characterize primary fibroblasts derived from xeroderma pigmentosum group A patients. ( 26546826 )
2015
18
Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients. ( 24135642 )
2014
19
Effect of point substitutions within the minimal DNA-binding domain of xeroderma pigmentosum group A protein on interaction with DNA intermediates of nucleotide excision repair. ( 25100013 )
2014
20
Progressive dysautonomia in two patients with xeroderma pigmentosum group A. ( 24679606 )
2014
21
Prenatal diagnosis of xeroderma pigmentosum group A in Japan. ( 22168765 )
2012
22
Poly(ADP-ribose) contributes to an association between poly(ADP-ribose) polymerase-1 and xeroderma pigmentosum complementation group A in nucleotide excision repair. ( 23038248 )
2012
23
Decreased repair of singlet oxygen-induced DNA damage in xeroderma pigmentosum group A cells determined by plasmid host cell reactivation. ( 22377136 )
2012
24
Lesions of cortical GABAergic interneurons and acetylcholine neurons in xeroderma pigmentosum group A. ( 21782366 )
2012
25
Neuroimaging features of xeroderma pigmentosum group A. ( 22574268 )
2012
26
Cyclosporin A inhibits nucleotide excision repair via downregulation of the xeroderma pigmentosum group A and G proteins, which is mediated by calcineurin inhibition. ( 21707758 )
2011
27
Nucleotide excision repair by mutant xeroderma pigmentosum group A (XPA) proteins with deficiency in interaction with RPA. ( 21148310 )
2011
28
Low-dose levodopa is effective for laryngeal dystonia in xeroderma pigmentosum group A. ( 19819090 )
2010
29
XPA gene mutations resulting in subtle truncation of protein in xeroderma pigmentosum group A patients with mild skin symptoms. ( 20574439 )
2010
30
Localization of xeroderma pigmentosum group A protein and replication protein A on damaged DNA in nucleotide excision repair. ( 20693538 )
2010
31
Proanthocyanidins inhibit photocarcinogenesis through enhancement of DNA repair and xeroderma pigmentosum group A-dependent mechanism. ( 20947490 )
2010
32
Melanocyte-stimulating hormone directly enhances UV-Induced DNA repair in keratinocytes by a xeroderma pigmentosum group A-dependent mechanism. ( 20388774 )
2010
33
Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family. ( 20199544 )
2010
34
Checkpoint kinase ATR promotes nucleotide excision repair of UV-induced DNA damage via physical interaction with xeroderma pigmentosum group A. ( 19586908 )
2009
35
Arsenite and its mono- and dimethylated trivalent metabolites enhance the formation of benzo[a]pyrene diol epoxide-DNA adducts in Xeroderma pigmentosum complementation group A cells. ( 19146383 )
2009
36
Oxidative damage induced genotoxic effects in human fibroblasts from Xeroderma Pigmentosum group A patients. ( 18585952 )
2008
37
Impaired spermatogenesis and elevated spontaneous tumorigenesis in xeroderma pigmentosum group A gene (Xpa)-deficient mice. ( 18790090 )
2008
38
Mouse models for xeroderma pigmentosum group A and group C show divergent cancer phenotypes. ( 18316597 )
2008
39
Involvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A. ( 17848622 )
2008
40
RecQ4 facilitates UV light-induced DNA damage repair through interaction with nucleotide excision repair factor xeroderma pigmentosum group A (XPA). ( 18693251 )
2008
41
Xeroderma pigmentosum complementation group A protein is driven to nucleotide excision repair sites by the electrostatic potential of distorted DNA. ( 17765667 )
2007
42
High-mobility group A1 proteins inhibit expression of nucleotide excision repair factor xeroderma pigmentosum group A. ( 17616660 )
2007
43
Recognition of helical kinks by xeroderma pigmentosum group A protein triggers DNA excision repair. ( 16491090 )
2006
44
Phosphorylation of nucleotide excision repair factor xeroderma pigmentosum group A by ataxia telangiectasia mutated and Rad3-related- dependent checkpoint pathway promotes cell survival in response to UV irradiation. ( 16540648 )
2006
45
Thermodynamic properties of damaged DNA and its recognition by xeroderma pigmentosum group A protein and replication protein A. ( 16405861 )
2006
46
Specific and efficient binding of xeroderma pigmentosum complementation group A to double-strand/single-strand DNA junctions with 3'- and/or 5'-ssDNA branches. ( 17176115 )
2006
47
The photocarcinogenesis of antibiotic lomefloxacin and UVA radiation is enhanced in xeroderma pigmentosum group A gene-deficient mice. ( 16117798 )
2005
48
A novel XPA gene mutation and its functional analysis in a Japanese patient with xeroderma pigmentosum group A. ( 16098033 )
2005
49
Mutation spectra induced by alpha-acetoxytamoxifen-DNA adducts in human DNA repair proficient and deficient (xeroderma pigmentosum complementation group A) cells. ( 15924439 )
2005
50
Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndrome. ( 15626539 )
2005

Variations for Xeroderma Pigmentosum, Complementation Group a

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

76
# Symbol AA change Variation ID SNP ID
1 XPA p.Pro94Leu VAR_007727
2 XPA p.Cys108Phe VAR_007728 rs104894131
3 XPA p.Arg130Lys VAR_007729
4 XPA p.Gln185His VAR_007730 rs746617574
5 XPA p.His244Arg VAR_007731 rs144725456

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

6 (show top 50) (show all 136)
# Gene Variation Type Significance SNP ID Assembly Location
1 XPA NM_000380.3(XPA): c.545_546insTA (p.Leu182Phefs) insertion Pathogenic rs786205205 GRCh37 Chromosome 9, 100449387: 100449388
2 XPA NM_000380.3(XPA): c.545_546insTA (p.Leu182Phefs) insertion Pathogenic rs786205205 GRCh38 Chromosome 9, 97687105: 97687106
3 XPC NM_004628.4(XPC): c.2034-1G> A single nucleotide variant Likely pathogenic rs869025275 GRCh38 Chromosome 3, 14152417: 14152417
4 XPC NM_004628.4(XPC): c.2034-1G> A single nucleotide variant Likely pathogenic rs869025275 GRCh37 Chromosome 3, 14193917: 14193917
5 XPA XPA, IVS1DS, T-G, +2 single nucleotide variant Pathogenic
6 XPA XPA, IVS3AS, G-C single nucleotide variant Pathogenic
7 XPA NM_000380.3(XPA): c.323G> T (p.Cys108Phe) single nucleotide variant Uncertain significance rs104894131 GRCh37 Chromosome 9, 100451882: 100451882
8 XPA NM_000380.3(XPA): c.323G> T (p.Cys108Phe) single nucleotide variant Uncertain significance rs104894131 GRCh38 Chromosome 9, 97689600: 97689600
9 XPA NM_000380.3(XPA): c.349_353del5 (p.Leu117Glufs) deletion Pathogenic rs1200172747 GRCh37 Chromosome 9, 100451852: 100451856
10 XPA NM_000380.3(XPA): c.349_353del5 (p.Leu117Glufs) deletion Pathogenic rs1200172747 GRCh38 Chromosome 9, 97689570: 97689574
11 XPA NM_000380.3(XPA): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs104894132 GRCh37 Chromosome 9, 100437861: 100437861
12 XPA NM_000380.3(XPA): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs104894132 GRCh38 Chromosome 9, 97675579: 97675579
13 XPA NM_000380.3(XPA): c.619C> T (p.Arg207Ter) single nucleotide variant Pathogenic rs104894133 GRCh37 Chromosome 9, 100447259: 100447259
14 XPA NM_000380.3(XPA): c.619C> T (p.Arg207Ter) single nucleotide variant Pathogenic rs104894133 GRCh38 Chromosome 9, 97684977: 97684977
15 XPA NM_000380.3(XPA): c.348T> A (p.Tyr116Ter) single nucleotide variant Pathogenic rs104894134 GRCh37 Chromosome 9, 100451857: 100451857
16 XPA NM_000380.3(XPA): c.348T> A (p.Tyr116Ter) single nucleotide variant Pathogenic rs104894134 GRCh38 Chromosome 9, 97689575: 97689575
17 XPA NM_000380.3(XPA): c.571C> G (p.Leu191Val) single nucleotide variant Uncertain significance rs562768588 GRCh37 Chromosome 9, 100447307: 100447307
18 XPA NM_000380.3(XPA): c.571C> G (p.Leu191Val) single nucleotide variant Uncertain significance rs562768588 GRCh38 Chromosome 9, 97685025: 97685025
19 XPA NM_000380.3(XPA): c.683G> A (p.Arg228Gln) single nucleotide variant Uncertain significance rs1805160 GRCh37 Chromosome 9, 100437860: 100437860
20 XPA NM_000380.3(XPA): c.683G> A (p.Arg228Gln) single nucleotide variant Uncertain significance rs1805160 GRCh38 Chromosome 9, 97675578: 97675578
21 XPA NM_000380.3(XPA): c.390-1G> C single nucleotide variant Pathogenic rs750218942 GRCh37 Chromosome 9, 100449544: 100449544
22 XPA NM_000380.3(XPA): c.390-1G> C single nucleotide variant Pathogenic rs750218942 GRCh38 Chromosome 9, 97687262: 97687262
23 XPA NM_000380.3(XPA): c.335_338delTTATinsCATAAGAAA (p.Phe112Serfs) indel Pathogenic rs886039226 GRCh37 Chromosome 9, 100451867: 100451870
24 XPA NM_000380.3(XPA): c.335_338delTTATinsCATAAGAAA (p.Phe112Serfs) indel Pathogenic rs886039226 GRCh38 Chromosome 9, 97689585: 97689588
25 XPA NM_000380.3(XPA): c.731A> G (p.His244Arg) single nucleotide variant Uncertain significance rs144725456 GRCh37 Chromosome 9, 100437812: 100437812
26 XPA NM_000380.3(XPA): c.731A> G (p.His244Arg) single nucleotide variant Uncertain significance rs144725456 GRCh38 Chromosome 9, 97675530: 97675530
27 XPA NM_000380.3(XPA): c.-43G> A single nucleotide variant Uncertain significance rs886063217 GRCh37 Chromosome 9, 100459617: 100459617
28 XPA NM_000380.3(XPA): c.-43G> A single nucleotide variant Uncertain significance rs886063217 GRCh38 Chromosome 9, 97697335: 97697335
29 XPA NM_000380.3(XPA): c.-66T> G single nucleotide variant Uncertain significance rs886063218 GRCh37 Chromosome 9, 100459640: 100459640
30 XPA NM_000380.3(XPA): c.-66T> G single nucleotide variant Uncertain significance rs886063218 GRCh38 Chromosome 9, 97697358: 97697358
31 XPA NM_000380.3(XPA): c.648_649delGA (p.Lys217Glufs) deletion Likely pathogenic rs1057519018 GRCh37 Chromosome 9, 100447229: 100447230
32 XPA NM_000380.3(XPA): c.648_649delGA (p.Lys217Glufs) deletion Likely pathogenic rs1057519018 GRCh38 Chromosome 9, 97684947: 97684948
33 XPA NM_000380.3(XPA): c.323G> A (p.Cys108Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs104894131 GRCh37 Chromosome 9, 100451882: 100451882
34 XPA NM_000380.3(XPA): c.323G> A (p.Cys108Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs104894131 GRCh38 Chromosome 9, 97689600: 97689600
35 XPA NM_000380.3(XPA): c.772_785delCGTAAGACTTGTAC (p.Arg258Tyrfs) deletion Pathogenic/Likely pathogenic rs778543124 GRCh37 Chromosome 9, 100437758: 100437771
36 XPA NM_000380.3(XPA): c.772_785delCGTAAGACTTGTAC (p.Arg258Tyrfs) deletion Pathogenic/Likely pathogenic rs778543124 GRCh38 Chromosome 9, 97675476: 97675489
37 XPA NM_000380.3(XPA): c.438_443delAGAATA (p.Gln146_Tyr148delinsHis) deletion Likely pathogenic GRCh37 Chromosome 9, 100449490: 100449495
38 XPA NM_000380.3(XPA): c.438_443delAGAATA (p.Gln146_Tyr148delinsHis) deletion Likely pathogenic GRCh38 Chromosome 9, 97687208: 97687213
39 XPA NM_000380.3(XPA): c.817dup (p.Met273Asnfs) duplication Uncertain significance rs754458042 GRCh37 Chromosome 9, 100437725: 100437725
40 XPA NM_000380.3(XPA): c.817dup (p.Met273Asnfs) duplication Uncertain significance rs754458042 GRCh38 Chromosome 9, 97675444: 97675444
41 XPA NM_000380.3(XPA): c.759_761delAGA (p.Glu253del) deletion Uncertain significance rs758358436 GRCh37 Chromosome 9, 100437781: 100437784
42 XPA NM_000380.3(XPA): c.759_761delAGA (p.Glu253del) deletion Uncertain significance rs758358436 GRCh38 Chromosome 9, 97675500: 97675502
43 XPA NM_000380.3(XPA): c.732dup (p.Glu245Terfs) duplication Likely pathogenic rs1554699296 GRCh37 Chromosome 9, 100437810: 100437810
44 XPA NM_000380.3(XPA): c.732dup (p.Glu245Terfs) duplication Likely pathogenic rs1554699296 GRCh38 Chromosome 9, 97675529: 97675529
45 XPA NM_000380.3(XPA): c.693_695delAAG (p.Arg231del) deletion Uncertain significance rs1554699326 GRCh37 Chromosome 9, 100437847: 100437850
46 XPA NM_000380.3(XPA): c.693_695delAAG (p.Arg231del) deletion Uncertain significance rs1554699326 GRCh38 Chromosome 9, 97675566: 97675568
47 XPA NM_000380.3(XPA): c.666dup (p.Val223Serfs) duplication Likely pathogenic rs1554701103 GRCh37 Chromosome 9, 100447211: 100447211
48 XPA NM_000380.3(XPA): c.666dup (p.Val223Serfs) duplication Likely pathogenic rs1554701103 GRCh38 Chromosome 9, 97684930: 97684930
49 XPA NM_000380.3(XPA): c.642_645dup (p.Gln216Glufs) duplication Likely pathogenic rs764582394 GRCh37 Chromosome 9, 100447232: 100447232
50 XPA NM_000380.3(XPA): c.642_645dup (p.Gln216Glufs) duplication Likely pathogenic rs764582394 GRCh38 Chromosome 9, 97684951: 97684954

Expression for Xeroderma Pigmentosum, Complementation Group a

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

Pathways for Xeroderma Pigmentosum, Complementation Group a

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 ERCC1 PARP1 RPA1 RPA2 XPA
2
Show member pathways
12.23 ERCC1 PARP1 RPA2 XPA
3
Show member pathways
12.09 ERCC1 PARP1 RPA1 RPA2 XPA
4
Show member pathways
11.93 ERCC1 RPA1 RPA2
5 11.93 ERCC1 RPA1 RPA2 XPA
6
Show member pathways
11.81 HSPA1A RPA1 RPA2
7 11.41 ERCC1 RPA1 RPA2
8
Show member pathways
11.09 ERCC1 PARP1 RPA1 RPA2 XPA
9 10.9 ERCC1 XPA

GO Terms for Xeroderma Pigmentosum, Complementation Group a

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.81 ERCC1 GPN1 HSPA1A NCBP1 PARP1 RPA1
2 site of DNA damage GO:0090734 9.37 PARP1 RPA1
3 nucleotide-excision repair factor 1 complex GO:0000110 9.26 ERCC1 XPA
4 DNA replication factor A complex GO:0005662 9.13 RPA1 RPA2 XPA
5 nuclear chromosome, telomeric region GO:0000784 9.02 ERCC1 PARP1 RPA1 RPA2 STN1
6 nucleus GO:0005634 10.02 ENDOV ERCC1 GPN1 HSPA1A NCBP1 PARP1

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.92 ERCC1 PARP1 RPA1 RPA2 XPA
2 DNA repair GO:0006281 9.88 ENDOV ERCC1 PARP1 RPA1 RPA2 XPA
3 DNA recombination GO:0006310 9.77 ERCC1 RPA1 RPA2
4 double-strand break repair via homologous recombination GO:0000724 9.73 PARP1 RPA1 RPA2
5 transcription-coupled nucleotide-excision repair GO:0006283 9.73 ERCC1 RPA1 RPA2 XPA
6 interstrand cross-link repair GO:0036297 9.71 ERCC1 RPA1 RPA2
7 regulation of cellular response to heat GO:1900034 9.69 HSPA1A RPA1 RPA2
8 base-excision repair GO:0006284 9.67 RPA1 RPA2 XPA
9 telomere maintenance GO:0000723 9.67 PARP1 RPA1 RPA2 STN1
10 DNA damage response, detection of DNA damage GO:0042769 9.65 PARP1 RPA1 RPA2
11 translesion synthesis GO:0019985 9.64 RPA1 RPA2
12 mismatch repair GO:0006298 9.64 RPA1 RPA2
13 telomere maintenance via telomerase GO:0007004 9.63 RPA1 RPA2
14 nucleotide-excision repair, DNA gap filling GO:0006297 9.63 RPA1 RPA2
15 global genome nucleotide-excision repair GO:0070911 9.63 ERCC1 PARP1 XPA
16 nucleotide-excision repair, DNA damage recognition GO:0000715 9.62 PARP1 XPA
17 error-free translesion synthesis GO:0070987 9.62 RPA1 RPA2
18 nucleotide-excision repair GO:0006289 9.62 ERCC1 RPA1 RPA2 XPA
19 error-prone translesion synthesis GO:0042276 9.61 RPA1 RPA2
20 telomere maintenance via semi-conservative replication GO:0032201 9.61 RPA1 RPA2
21 UV protection GO:0009650 9.6 ERCC1 XPA
22 UV-damage excision repair GO:0070914 9.58 ERCC1 XPA
23 DNA unwinding involved in DNA replication GO:0006268 9.58 RPA1 RPA2
24 mitotic recombination GO:0006312 9.57 ERCC1 RPA2
25 nucleotide-excision repair, preincision complex assembly GO:0006294 9.56 PARP1 RPA1 RPA2 XPA
26 protein localization to chromosome GO:0034502 9.55 RPA1 RPA2
27 nucleotide-excision repair, DNA incision GO:0033683 9.55 ERCC1 PARP1 RPA1 RPA2 XPA
28 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.35 ERCC1 PARP1 RPA1 RPA2 XPA
29 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.02 ERCC1 PARP1 RPA1 RPA2 XPA

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.87 ENDOV ERCC1 PARP1 RPA1 RPA2 STN1
2 protein N-terminus binding GO:0047485 9.54 HSPA1A PARP1 RPA2
3 G-rich strand telomeric DNA binding GO:0098505 9.26 RPA1 RPA2
4 single-stranded DNA binding GO:0003697 9.26 ERCC1 RPA1 RPA2 STN1
5 single-stranded telomeric DNA binding GO:0043047 9.16 RPA1 STN1
6 damaged DNA binding GO:0003684 8.92 ERCC1 RPA1 RPA2 XPA

Sources for Xeroderma Pigmentosum, Complementation Group a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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