XPA
MCID: XRD029
MIFTS: 55

Xeroderma Pigmentosum, Complementation Group a (XPA)

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 57 39
Xeroderma Pigmentosum Group a 12 29 6 15
Xeroderma Pigmentosum, Group a 57 13 70
Xp1 57 12 72
Xeroderma Pigmentosum Complementation Group a 12 72
Xeroderma Pigmentosum I 57 72
Xp Group a 12 72
Xpa 57 12
Xeroderma Pigmentosum, Type 1 73
Xeroderma Pigmentosum I; Xp1 57
Xeroderma Pigmentosum 1 12
Xp, Group a 57
Xp-a 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
with at least 4 loci


HPO:

31
xeroderma pigmentosum, complementation group a:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Xeroderma Pigmentosum, Complementation Group a

OMIM® : 57 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) (Updated 05-Apr-2021)

MalaCards based summary : Xeroderma Pigmentosum, Complementation Group a, also known as xeroderma pigmentosum group a, is related to brain sarcoma and photoparoxysmal response 1. 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 Gene Expression and Telomere C-strand (Lagging Strand) Synthesis. Affiliated tissues include skin, lung and brain, and related phenotypes are intellectual disability and spasticity

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 : 72 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 : 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 a

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

(show top 50) (show all 135)
# Related Disease Score Top Affiliating Genes
1 brain sarcoma 31.6 XPA GPN1
2 photoparoxysmal response 1 31.5 XPA ERCC6 ERCC1
3 xeroderma pigmentosum, complementation group e 31.4 XPC XPA DDB2
4 trichothiodystrophy 31.4 XPC XPA ERCC6 ERCC2 ERCC1
5 xfe progeroid syndrome 31.4 XPA XAB2 ERCC6 ERCC1
6 cockayne syndrome a 31.2 XPA XAB2 RPA1 ERCC6 ERCC1
7 gastroesophageal adenocarcinoma 31.2 XRCC1 XPA ERCC2 ERCC1
8 xeroderma pigmentosum, complementation group b 31.2 XPC XPA RAD23B H2AC18 ERCC6 ERCC2
9 ataxia-telangiectasia 31.2 XRCC1 XPA RPA2 RPA1 PARP1 ATM
10 xeroderma pigmentosum, complementation group c 31.2 XRCC1 XPC XPA RAD23B H2AC18 ERCC6
11 ocular cancer 31.2 XPA H2AC18 ERCC2
12 hutchinson-gilford progeria syndrome 31.1 XPA H2AC18 ERCC6 ERCC1 ATM
13 robinow syndrome, autosomal recessive 1 31.1 XPA H2AC18 ERCC6 ERCC1 DDB2
14 mutagen sensitivity 31.1 XRCC1 XPC XPA RAD23B ERCC2
15 autosomal genetic disease 31.1 XPA H2AC18 ERCC6 ERCC1 ATM
16 cockayne syndrome 30.7 XPC XPA XAB2 RPA1 PARP1 H2AC18
17 xeroderma pigmentosum group e 30.6 XPC XPA RAD23B H2AC18 ERCC6 ERCC2
18 xeroderma pigmentosum, complementation group g 30.6 XRCC1 XPC XPA XAB2 RAD23B H2AC18
19 telangiectasis 30.4 H2AC18 ERCC6 ATM
20 xeroderma pigmentosum, complementation group d 30.4 XRCC1 XPC XPA RAD23B H2AC18 ERCC6
21 uv-sensitive syndrome 30.3 XPC XPA XAB2 RAD23B H2AC18 ERCC6
22 autosomal recessive disease 30.1 XPA H2AC18 ERCC6 ERCC2 ATM
23 xeroderma pigmentosum, complementation group f 30.0 XPA RAD23B ERCC6 ERCC2 ERCC1 DDB2
24 basal cell carcinoma 30.0 XRCC1 XPA ERCC2 ERCC1 DDB2
25 fanconi anemia, complementation group a 29.8 XRCC1 XPA RPA2 RPA1 PSAP PARP1
26 xeroderma pigmentosum, variant type 29.6 XRCC1 XPC XPA XAB2 RPA2 RPA1
27 skin carcinoma 29.4 XRCC1 XPC XPA H2AC18 ERCC6 ERCC2
28 lung cancer 11.2
29 ovarian cancer 11.1
30 skin benign neoplasm 11.0
31 multiple self-healing squamous epithelioma 10.8
32 fanconi anemia, complementation group c 10.8
33 laminopathy 10.8
34 basal cell nevus syndrome 10.8
35 conjunctival degeneration 10.8
36 ataxia and polyneuropathy, adult-onset 10.3
37 spasmodic dystonia 10.3
38 skin disease 10.3
39 dystonia 10.3
40 spasmodic dysphonia 10.3
41 dysphagia 10.3
42 endometrial cancer 10.2
43 squamous cell carcinoma 10.2
44 erythrokeratoderma ''en cocardes'' 10.2
45 rare genetic skin disease 10.2
46 cerebro-oculo-facio-skeletal syndrome 10.2 ERCC6 ERCC2 ERCC1
47 cerebrooculofacioskeletal syndrome 1 10.2 ERCC6 ERCC2 ERCC1
48 proteasome-associated autoinflammatory syndrome 1 10.1
49 tardive dyskinesia 10.1
50 microcephaly, epilepsy, and diabetes syndrome 10.1

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:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 spasticity 31 HP:0001257
3 ataxia 31 HP:0001251
4 microcephaly 31 HP:0000252
5 sensorineural hearing impairment 31 HP:0000407
6 photophobia 31 HP:0000613
7 melanoma 31 HP:0002861
8 mental deterioration 31 HP:0001268
9 conjunctivitis 31 HP:0000509
10 keratitis 31 HP:0000491
11 hyporeflexia 31 HP:0001265
12 cutaneous photosensitivity 31 HP:0000992
13 ectropion 31 HP:0000656
14 choreoathetosis 31 HP:0001266
15 poikiloderma 31 HP:0001029
16 telangiectasia 31 HP:0001009
17 dermal atrophy 31 HP:0004334
18 entropion 31 HP:0000621
19 defective dna repair after ultraviolet radiation damage 31 HP:0003079

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neuro:
spasticity
ataxia
microcephaly
mental deterioration
hyporeflexia
more
Skin:
poikiloderma
telangiectasia
skin atrophy
keratoacanthomas
skin photosensitivity
more
Misc:
minimal to severe neurologic features

Eyes:
photophobia
conjunctivitis
keratitis
ectropion
entropion

Lab:
defective dna repair after ultraviolet radiation damage

Clinical features from OMIM®:

278700 (Updated 05-Apr-2021)

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

26 (show all 41)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.42 NCBP1 RPA2 XAB2
2 Decreased viability GR00221-A-1 10.42 RPA2
3 Decreased viability GR00221-A-2 10.42 RPA2
4 Decreased viability GR00221-A-3 10.42 ATM RPA2
5 Decreased viability GR00221-A-4 10.42 ATM
6 Decreased viability GR00249-S 10.42 RAD23B RPA1 XPC XRCC1
7 Decreased viability GR00301-A 10.42 RPA1
8 Decreased viability GR00381-A-1 10.42 ERCC1 XAB2 ZNF830
9 Decreased viability GR00386-A-1 10.42 ERCC6 GPN1 RAD23B RPA1 XAB2
10 Decreased viability GR00402-S-2 10.42 GPN1 RPA1 RPA2 XAB2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-104 10.35 NCBP1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.35 NCBP1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-136 10.35 RPA2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-145 10.35 ERCC1 RPA2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-153 10.35 NCBP1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.35 ERCC1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.35 NCBP1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.35 ERCC1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-170 10.35 PARP1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-18 10.35 ERCC1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-180 10.35 NCBP1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-181 10.35 ERCC1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-204 10.35 ERCC1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.35 NCBP1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10.35 PARP1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.35 PARP1 PSAP
27 Increased shRNA abundance (Z-score > 2) GR00366-A-45 10.35 RPA2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.35 NCBP1 PSAP
29 Increased shRNA abundance (Z-score > 2) GR00366-A-6 10.35 NCBP1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.35 ERCC1 NCBP1 PARP1 RPA2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-65 10.35 NCBP1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.35 PARP1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-84 10.35 PARP1 RPA2
34 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.35 ERCC1
35 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.05 DDB2 ERCC6 GPN1 LIG3 RPA1 XAB2
36 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.05 ATM DDB2 ERCC1 ERCC6 GPN1 LIG3
37 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.05 ATM DDB2 ERCC1 ERCC6 GPN1 LIG3
38 Increased ionizing radiation sensitivity GR00232-A-1 9.8 ATM GPN1 LIG3 RAD23B RPA1 RPA2
39 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 9.7 ATM DDB2 ERCC1
40 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 9.7 ATM DDB2 ERCC1 LIG3
41 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.7 ATM DDB2 ERCC1 XRCC1

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 ATM ERCC1 ERCC2 ERCC6 LIG3 NCBP1
2 cellular MP:0005384 10.21 ATM DDB2 ERCC1 ERCC2 ERCC6 LIG3
3 growth/size/body region MP:0005378 10.17 ATM DDB2 ERCC1 ERCC2 ERCC6 LIG3
4 mortality/aging MP:0010768 10.06 ATM DDB2 ERCC1 ERCC2 ERCC6 LIG3
5 adipose tissue MP:0005375 9.98 ATM ERCC1 ERCC2 ERCC6 NCBP1 RAD23B
6 integument MP:0010771 9.91 ATM DDB2 ERCC1 ERCC2 ERCC6 PARP1
7 neoplasm MP:0002006 9.61 ATM DDB2 ERCC1 ERCC2 ERCC6 RPA1
8 vision/eye MP:0005391 9.28 ERCC1 ERCC2 ERCC6 PARP1 PSAP RAD23B

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 Group a 29 XPA

Anatomical Context for Xeroderma Pigmentosum, Complementation Group a

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

40
Skin, Lung, Brain, Liver, Bone, B Cells, Tongue

Publications for Xeroderma Pigmentosum, Complementation Group a

Articles related to Xeroderma Pigmentosum, Complementation Group a:

(show top 50) (show all 457)
# Title Authors PMID Year
1
Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein. 61 57 6
9671271 1998
2
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 57 6
10447254 1999
3
Three nonsense mutations responsible for group A xeroderma pigmentosum. 57 6
1372102 1992
4
Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene. 57 6
1339397 1992
5
Characterization of a splicing mutation in group A xeroderma pigmentosum. 57 6
1702221 1990
6
Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain. 57 6
2234061 1990
7
Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients. 61 6
24135642 2014
8
XPA gene mutations resulting in subtle truncation of protein in xeroderma pigmentosum group A patients with mild skin symptoms. 6 61
20574439 2010
9
Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients. 6 61
20534089 2010
10
Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family. 6 61
20199544 2010
11
Recognition of helical kinks by xeroderma pigmentosum group A protein triggers DNA excision repair. 61 6
16491090 2006
12
A novel XPA gene mutation and its functional analysis in a Japanese patient with xeroderma pigmentosum group A. 6 61
16098033 2005
13
DNA-based prenatal diagnosis in a Chinese family with xeroderma pigmentosum group A. 6 61
15214909 2004
14
High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia. 61 6
8105686 1993
15
A case of xeroderma pigmentosum group A diagnosed with a polymerase chain reaction (PCR) technique. Usefulness of PCR in the detection of point mutation in a patient with a hereditary disease. 61 6
1352672 1992
16
Expansion of the genotypic and phenotypic spectrum of xeroderma pigmentosum in Chinese population. 6
27982466 2017
17
Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients. 6
27607234 2017
18
Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population. 6
25256075 2015
19
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
20
Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients. 6
25566891 2015
21
Ancient origin of a Japanese xeroderma pigmentosum founder mutation. 6
23194742 2013
22
Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity. 6
22081045 2012
23
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa. 6
20054342 2010
24
Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew. 6
19917958 2009
25
Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population. 6
16905156 2006
26
Mutations in the XPD gene leading to xeroderma pigmentosum symptoms. 6
9101292 1997
27
Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. 57
8797827 1996
28
Chronological difference in walking impairment among Japanese group A xeroderma pigmentosum (XP-A) patients with various combinations of mutation sites. 6
8825598 1995
29
The general transcription-repair factor TFIIH is recruited to the excision repair complex by the XPA protein independent of the TFIIE transcription factor. 6
7876263 1995
30
The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm. 57
8053698 1994
31
Sunlight avoidance and cancer prevention in xeroderma pigmentosum. 57
8002661 1994
32
It was a very good year for DNA repair. 57
8287470 1994
33
A child with xeroderma pigmentosum and bone marrow failure. 57
1571258 1992
34
Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum. 6
1372103 1992
35
The genetic basis of xeroderma pigmentosum. 57
1809220 1991
36
Peripheral neuropathy in xeroderma pigmentosum. 57
2168777 1990
37
Do we know the cause of xeroderma pigmentosum? 57
2189596 1990
38
Carrier detection in xeroderma pigmentosum. 57
2295692 1990
39
Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin. 57
3287161 1988
40
Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. 57
3545087 1987
41
Microinjection of partially purified protein factor restores DNA damage specifically in group A of xeroderma pigmentosum cells. 57
3456596 1986
42
Studies on gene transfer and reversion to UV resistance in xeroderma pigmentosum cells. 57
3000003 1985
43
Xeroderma pigmentosum fibroblasts are more sensitive to asbestos fibers than are normal human fibroblasts. 57
6321052 1984
44
Xeroderma pigmentosum in Egypt. III. ABO blood grouping in 22 affected families. 57
6712155 1984
45
Microinjection of human cell extracts corrects xeroderma pigmentosum defect. 57
6357782 1983
46
Congenital malformations and developmental disabilities in ataxia-telangiectasia, Fanconi anemia, and xeroderma pigmentosum families. 57
7124732 1982
47
Phenotypic correction of the defect in xeroderma pigmentosum cells after fusion with isolated cytoplasts. 57
7106197 1982
48
Frequency of UV-induced neoplastic transformation of diploid human fibroblasts is higher in xeroderma pigmentosum cells than in normal cells. 57
6953417 1982
49
Ataxia-telangiectasia and xeroderma pigmentosum: no evidence of linkage to HLA. 57
7466773 1980
50
Differences in the levels of UV repair and in clinical symptoms in two sibs affected by xeroderma pigmentosum. 57
7390491 1980

Variations for Xeroderma Pigmentosum, Complementation Group a

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

6 (show top 50) (show all 96)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 XPA NM_000380.3(XPA):c.348T>A (p.Tyr116Ter) SNV Pathogenic 997 rs104894134 GRCh37: 9:100451857-100451857
GRCh38: 9:97689575-97689575
2 XPA NM_000380.3(XPA):c.172+2T>G SNV Pathogenic 998 rs1587755557 GRCh37: 9:100459401-100459401
GRCh38: 9:97697119-97697119
3 XPA NM_000380.3(XPA):c.545_546insTA (p.Leu182fs) Insertion Pathogenic 190207 rs786205205 GRCh37: 9:100449387-100449388
GRCh38: 9:97687105-97687106
4 XPA NM_000380.3(XPA):c.335_338delinsCATAAGAAA (p.Phe112_Met113delinsSerTer) Indel Pathogenic 264683 rs886039226 GRCh37: 9:100451867-100451870
GRCh38: 9:97689585-97689588
5 XPA NM_000380.3(XPA):c.553C>T (p.Gln185Ter) SNV Pathogenic 267185 GRCh37: 9:100449380-100449380
GRCh38: 9:97687098-97687098
6 XPA NM_000380.3(XPA):c.374del (p.Thr125fs) Deletion Pathogenic 267186 GRCh37: 9:100451831-100451831
GRCh38: 9:97689549-97689549
7 XPA NM_001354975.1(XPA):c.218_222CTTAT[1] (p.Leu75fs) Microsatellite Pathogenic 994 rs1200172747 GRCh37: 9:100451852-100451856
GRCh38: 9:97689570-97689574
8 XPA NM_000380.3(XPA):c.390-1G>C SNV Pathogenic 264684 rs750218942 GRCh37: 9:100449544-100449544
GRCh38: 9:97687262-97687262
9 XPA NM_000380.3(XPA):c.331G>T (p.Glu111Ter) SNV Pathogenic 557900 rs769255883 GRCh37: 9:100451874-100451874
GRCh38: 9:97689592-97689592
10 XPA NM_000380.3(XPA):c.619C>T (p.Arg207Ter) SNV Pathogenic 996 rs104894133 GRCh37: 9:100447259-100447259
GRCh38: 9:97684977-97684977
11 XPA XPA, IVS3AS, G-C SNV Pathogenic 992 GRCh37:
GRCh38:
12 XPA NM_000380.3(XPA):c.682C>T (p.Arg228Ter) SNV Pathogenic 995 rs104894132 GRCh37: 9:100437861-100437861
GRCh38: 9:97675579-97675579
13 XPA NM_000380.3(XPA):c.772_785del (p.Arg258fs) Deletion Pathogenic/Likely pathogenic 523608 rs778543124 GRCh37: 9:100437758-100437771
GRCh38: 9:97675476-97675489
14 XPA NM_000380.3(XPA):c.666dup (p.Val223fs) Duplication Likely pathogenic 553445 rs1554701103 GRCh37: 9:100447211-100447212
GRCh38: 9:97684929-97684930
15 XPA NM_000380.3(XPA):c.555G>C (p.Gln185His) SNV Likely pathogenic 550646 rs746617574 GRCh37: 9:100449378-100449378
GRCh38: 9:97687096-97687096
16 XPA NM_000380.3(XPA):c.631C>T (p.Arg211Ter) SNV Likely pathogenic 551809 rs149226993 GRCh37: 9:100447247-100447247
GRCh38: 9:97684965-97684965
17 XPC NM_004628.4(XPC):c.2034-1G>A SNV Likely pathogenic 221284 rs869025275 GRCh37: 3:14193917-14193917
GRCh38: 3:14152417-14152417
18 XPA NM_000380.3(XPA):c.648_649del (p.Lys217fs) Deletion Likely pathogenic 374933 rs1057519018 GRCh37: 9:100447229-100447230
GRCh38: 9:97684947-97684948
19 XPA NM_000380.3(XPA):c.548del (p.Lys183fs) Deletion Likely pathogenic 550908 rs1554701488 GRCh37: 9:100449385-100449385
GRCh38: 9:97687103-97687103
20 XPA NM_000380.3(XPA):c.2T>C (p.Met1Thr) SNV Likely pathogenic 551841 rs1253496792 GRCh37: 9:100459573-100459573
GRCh38: 9:97697291-97697291
21 XPA NM_000380.3(XPA):c.172+1G>A SNV Likely pathogenic 552016 rs1554703119 GRCh37: 9:100459402-100459402
GRCh38: 9:97697120-97697120
22 XPA NM_000380.3(XPA):c.732dup (p.Glu245Ter) Duplication Likely pathogenic 552532 rs1554699296 GRCh37: 9:100437810-100437811
GRCh38: 9:97675528-97675529
23 XPA NM_001354975.1(XPA):c.-1140del Deletion Likely pathogenic 551362 rs779161471 GRCh37: 9:100459565-100459565
GRCh38: 9:97697283-97697283
24 XPA NM_000380.3(XPA):c.555+2T>A SNV Likely pathogenic 553255 rs1554701478 GRCh37: 9:100449376-100449376
GRCh38: 9:97687094-97687094
25 XPA NM_000380.3(XPA):c.338_339del (p.Met113fs) Deletion Likely pathogenic 553390 rs748286715 GRCh37: 9:100451866-100451867
GRCh38: 9:97689584-97689585
26 XPA NM_000380.3(XPA):c.646C>T (p.Gln216Ter) SNV Likely pathogenic 553816 rs761978351 GRCh37: 9:100447232-100447232
GRCh38: 9:97684950-97684950
27 XPA NM_000380.3(XPA):c.451A>T (p.Lys151Ter) SNV Likely pathogenic 553992 rs1554701532 GRCh37: 9:100449482-100449482
GRCh38: 9:97687200-97687200
28 XPA NM_000380.3(XPA):c.283+1_283+6del Deletion Likely pathogenic 554712 rs1554702597 GRCh37: 9:100455925-100455930
GRCh38: 9:97693643-97693648
29 XPA NM_001354975.1(XPA):c.331_332TG[1] (p.Cys111_Asp112delinsTer) Microsatellite Likely pathogenic 554759 rs1240801740 GRCh37: 9:100449473-100449474
GRCh38: 9:97687191-97687192
30 XPA NM_000380.3(XPA):c.472dup (p.Arg158fs) Duplication Likely pathogenic 555021 rs1554701520 GRCh37: 9:100449460-100449461
GRCh38: 9:97687178-97687179
31 XPA NM_001354975.1(XPA):c.300_301AG[1] (p.Glu101fs) Microsatellite Likely pathogenic 555051 rs1554701540 GRCh37: 9:100449504-100449505
GRCh38: 9:97687222-97687223
32 XPA NM_000380.3(XPA):c.631dup (p.Arg211fs) Duplication Likely pathogenic 554411 rs1554701129 GRCh37: 9:100447246-100447247
GRCh38: 9:97684964-97684965
33 XPA NM_000380.3(XPA):c.677T>A (p.Leu226Ter) SNV Likely pathogenic 554689 rs1554699334 GRCh37: 9:100437866-100437866
GRCh38: 9:97675584-97675584
34 XPA NM_000380.3(XPA):c.555+1G>A SNV Likely pathogenic 555159 rs1554701481 GRCh37: 9:100449377-100449377
GRCh38: 9:97687095-97687095
35 XPA NM_001354975.1(XPA):c.346_347AG[2] (p.Glu117fs) Microsatellite Likely pathogenic 555550 rs781195170 GRCh37: 9:100449456-100449457
GRCh38: 9:97687174-97687175
36 XPA NM_000380.3(XPA):c.197del (p.Pro66fs) Deletion Likely pathogenic 555884 rs1554702629 GRCh37: 9:100456017-100456017
GRCh38: 9:97693735-97693735
37 XPA NM_000380.3(XPA):c.572_573del (p.Leu191fs) Deletion Likely pathogenic 555885 rs1554701144 GRCh37: 9:100447305-100447306
GRCh38: 9:97685023-97685024
38 XPA NM_000380.3(XPA):c.235G>T (p.Glu79Ter) SNV Likely pathogenic 555434 rs1554702608 GRCh37: 9:100455979-100455979
GRCh38: 9:97693697-97693697
39 XPA NM_000380.3(XPA):c.601_602del (p.Glu201fs) Deletion Likely pathogenic 556331 rs1554701139 GRCh37: 9:100447276-100447277
GRCh38: 9:97684994-97684995
40 XPA NM_000380.3(XPA):c.-4_26del (p.Met1_Pro9del) Deletion Likely pathogenic 556808 rs1554703183 GRCh37: 9:100459549-100459578
GRCh38: 9:97697267-97697296
41 XPA NM_000380.3(XPA):c.172+1G>T SNV Likely pathogenic 556927 rs1554703119 GRCh37: 9:100459402-100459402
GRCh38: 9:97697120-97697120
42 XPA NM_000380.3(XPA):c.391del (p.Asp131fs) Deletion Likely pathogenic 557407 rs1554701563 GRCh37: 9:100449542-100449542
GRCh38: 9:97687260-97687260
43 XPA NM_000380.3(XPA):c.389+1G>A SNV Likely pathogenic 557410 rs1554701931 GRCh37: 9:100451815-100451815
GRCh38: 9:97689533-97689533
44 XPA NM_000380.3(XPA):c.532dup (p.Met178fs) Duplication Likely pathogenic 557674 rs1326841833 GRCh37: 9:100449400-100449401
GRCh38: 9:97687118-97687119
45 XPA NM_000380.3(XPA):c.642_645dup (p.Gln216fs) Duplication Likely pathogenic 557894 rs764582394 GRCh37: 9:100447232-100447233
GRCh38: 9:97684950-97684951
46 XPA NM_000380.3(XPA):c.774dup (p.Lys259Ter) Duplication Likely pathogenic 558017 rs752573039 GRCh37: 9:100437768-100437769
GRCh38: 9:97675486-97675487
47 XPA NM_000380.3(XPA):c.673+2T>C SNV Likely pathogenic 558173 rs1019535182 GRCh37: 9:100447203-100447203
GRCh38: 9:97684921-97684921
48 XPA NM_000380.3(XPA):c.599T>G (p.Leu200Ter) SNV Likely pathogenic 558307 rs755803064 GRCh37: 9:100447279-100447279
GRCh38: 9:97684997-97684997
49 XPA NM_000380.3(XPA):c.563del (p.Lys188fs) Deletion Likely pathogenic 558468 rs1554701152 GRCh37: 9:100447315-100447315
GRCh38: 9:97685033-97685033
50 XPA NM_000380.3(XPA):c.438_443del (p.Gln146_Tyr148delinsHis) Deletion Likely pathogenic 523609 rs1564045331 GRCh37: 9:100449490-100449495
GRCh38: 9:97687208-97687213

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

72
# 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 rs132431030
4 XPA p.Gln185His VAR_007730 rs746617574
5 XPA p.His244Arg VAR_007731 rs144725456

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:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 XAB2 RPA2 RPA1 PARP1 NCBP1 HSPA1A
2
Show member pathways
12.67 XRCC1 RPA2 RPA1 PARP1 LIG3
3
Show member pathways
12.64 XRCC1 XPC XPA XAB2 RPA2 RAD23B
4
Show member pathways
12.54 ZNF830 XRCC1 XPC XPA XAB2 RPA2
5
Show member pathways
12.5 ZNF830 XRCC1 XPC XPA XAB2 RPA2
6 12.49 XRCC1 XPC XPA RPA2 RPA1 RAD23B
7
Show member pathways
12.3 RPA2 RPA1 H2AC18 ATM
8
Show member pathways
12.07 RPA2 RPA1 ERCC1 ATM
9
Show member pathways
11.97 RPA2 RPA1 HSPA1A ATM
10
Show member pathways
11.96 XPC XPA RPA2 RPA1 RAD23B PARP1
11 11.65 RPA2 RPA1 ERCC1
12 11.53 XPA ERCC1 ATM
13 11.49 XPC XPA ERCC2 ATM
14 11.13 XPA ERCC6 ERCC2 ERCC1

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 nucleus GO:0005634 9.93 ZNF830 XRCC1 XPC XPA XAB2 RPA2
2 chromosome, telomeric region GO:0000781 9.63 XRCC1 RPA2 RPA1 PARP1 ERCC1 ATM
3 nucleoplasm GO:0005654 9.58 ZNF830 XRCC1 XPC XPA XAB2 RPA2
4 site of DNA damage GO:0090734 9.56 XPC RPA1 PARP1 ERCC6
5 DNA replication factor A complex GO:0005662 9.5 XPA RPA2 RPA1
6 nucleotide-excision repair complex GO:0000109 9.46 XPC ERCC1
7 ERCC4-ERCC1 complex GO:0070522 9.43 XRCC1 ERCC1
8 XPC complex GO:0071942 9.4 XPC RAD23B
9 nucleotide-excision repair factor 1 complex GO:0000110 9.37 XPA ERCC1

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

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 nucleotide-excision repair, DNA incision GO:0033683 10.02 XPA RPA2 RPA1 PARP1 ERCC2 ERCC1
2 double-strand break repair via homologous recombination GO:0000724 10 XRCC1 RPA2 RPA1 PARP1 LIG3 ATM
3 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 10 XPA RPA2 RPA1 PARP1 ERCC2 ERCC1
4 global genome nucleotide-excision repair GO:0070911 9.98 XPC XPA RAD23B PARP1 ERCC2 ERCC1
5 transcription by RNA polymerase II GO:0006366 9.97 PARP1 NCBP1 ERCC6 ERCC2
6 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.97 XPC XPA RAD23B PARP1 ERCC2 DDB2
7 DNA replication GO:0006260 9.95 RPA2 RPA1 LIG3 ATM
8 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.95 XPA RPA2 RPA1 PARP1 ERCC2 ERCC1
9 base-excision repair GO:0006284 9.93 XRCC1 XPA RPA2 RPA1 ERCC6
10 nucleotide-excision repair, preincision complex assembly GO:0006294 9.92 XPC XPA RPA2 RPA1 RAD23B PARP1
11 DNA recombination GO:0006310 9.91 RPA2 RPA1 LIG3 ERCC1
12 nucleotide-excision repair, DNA damage recognition GO:0000715 9.91 XPC XPA RAD23B PARP1 DDB2
13 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.91 XPA RPA2 RPA1 PARP1 ERCC2 ERCC1
14 multicellular organism growth GO:0035264 9.89 ERCC6 ERCC2 ERCC1 ATM
15 regulation of cellular response to heat GO:1900034 9.88 RPA2 RPA1 HSPA1A ATM
16 telomere maintenance GO:0000723 9.87 RPA2 RPA1 PARP1 ATM
17 nucleotide-excision repair, DNA gap filling GO:0006297 9.86 XRCC1 RPA2 RPA1 LIG3
18 nucleotide-excision repair GO:0006289 9.86 XPC XPA RPA2 RPA1 RAD23B ERCC2
19 double-strand break repair via nonhomologous end joining GO:0006303 9.85 XRCC1 ERCC1 ATM
20 double-strand break repair GO:0006302 9.85 PARP1 LIG3 ERCC1
21 UV-damage excision repair GO:0070914 9.85 XPC XPA ERCC1 DDB2
22 transcription-coupled nucleotide-excision repair GO:0006283 9.85 ZNF830 XRCC1 XPA XAB2 RPA2 RPA1
23 interstrand cross-link repair GO:0036297 9.84 RPA2 RPA1 ERCC1
24 response to UV GO:0009411 9.83 ERCC6 ERCC2 DDB2
25 embryonic organ development GO:0048568 9.81 RAD23B ERCC2 ERCC1
26 DNA damage response, detection of DNA damage GO:0042769 9.81 RPA2 RPA1 PARP1
27 cellular response to DNA damage stimulus GO:0006974 9.8 XRCC1 XPC XPA XAB2 RPA2 RPA1
28 mismatch repair GO:0006298 9.79 XPC RPA2 RPA1
29 UV protection GO:0009650 9.75 XPA ERCC2 ERCC1
30 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.7 ERCC6 ERCC1
31 replicative senescence GO:0090399 9.69 ERCC1 ATM
32 positive regulation of double-strand break repair via homologous recombination GO:1905168 9.69 PARP1 ERCC6
33 response to auditory stimulus GO:0010996 9.69 XPC XPA
34 V(D)J recombination GO:0033151 9.68 LIG3 ATM
35 single strand break repair GO:0000012 9.68 XRCC1 ERCC6
36 response to UV-B GO:0010224 9.68 XPC ERCC6
37 mitochondrial DNA repair GO:0043504 9.67 PARP1 LIG3
38 protein localization to chromosome GO:0034502 9.65 RPA2 RPA1
39 pyrimidine dimer repair GO:0006290 9.65 ERCC6 DDB2
40 pyrimidine dimer repair by nucleotide-excision repair GO:0000720 9.64 XPC ERCC1
41 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.63 XRCC1 ERCC1
42 telomeric DNA-containing double minutes formation GO:0061819 9.62 XRCC1 ERCC1
43 base-excision repair, DNA ligation GO:0006288 9.62 XRCC1 LIG3
44 positive regulation of single strand break repair GO:1903518 9.6 XRCC1 PARP1
45 DNA repair GO:0006281 9.47 XRCC1 XPC XPA XAB2 RPA2 RPA1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.32 ZNF830 XRCC1 XPC XPA XAB2 RPA2
2 DNA binding GO:0003677 9.93 XPC XPA RPA2 RPA1 PARP1 LIG3
3 single-stranded DNA binding GO:0003697 9.65 XPC RPA2 RPA1 RAD23B ERCC1
4 protein N-terminus binding GO:0047485 9.43 RPA2 PARP1 HSPA1A ERCC6 ERCC2 ATM
5 G-rich strand telomeric DNA binding GO:0098505 9.4 RPA2 RPA1
6 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.37 XRCC1 ERCC1
7 damaged DNA binding GO:0003684 9.28 XRCC1 XPC XPA RPA2 RPA1 RAD23B

Sources for Xeroderma Pigmentosum, Complementation Group a

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
Content
Loading form....