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 56 39
Xeroderma Pigmentosum Group a 12 29 6 15
Xeroderma Pigmentosum, Group a 56 13 71
Xp1 56 12 73
Xeroderma Pigmentosum Complementation Group a 12 73
Xeroderma Pigmentosum I 56 73
Xp Group a 12 73
Xpa 56 12
Xeroderma Pigmentosum, Type 1 74
Xeroderma Pigmentosum I; Xp1 56
Xeroderma Pigmentosum 1 12
Xp, Group a 56
Xp-a 73

Characteristics:

OMIM:

56
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 : 56 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 ataxia-telangiectasia and brain sarcoma. 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 DNA Double-Strand Break Repair. Affiliated tissues include skin, brain and lung, and related phenotypes are intellectual disability and microcephaly

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 : 73 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 : 74 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 129)
# Related Disease Score Top Affiliating Genes
1 ataxia-telangiectasia 32.2 XPA RPA2 RPA1 PARP1 ATM
2 brain sarcoma 32.1 XPA GPN1
3 trichothiodystrophy 32.0 XPA ERCC6 ERCC2 ERCC1
4 hutchinson-gilford progeria syndrome 31.9 XPA H2AC18 ERCC6 ERCC1 ATM
5 xeroderma pigmentosum, complementation group c 31.9 XRCC1 XPA RAD23B H2AC18 ERCC6 ERCC1
6 xfe progeroid syndrome 31.8 XPA XAB2 ERCC6 ERCC1
7 robinow syndrome, autosomal recessive 1 31.7 XPA H2AC18 ERCC6 DDB2
8 xeroderma pigmentosum, complementation group b 31.7 XPA RAD23B H2AC18 ERCC6 ERCC2 ERCC1
9 xeroderma pigmentosum, complementation group e 31.6 XPA DDB2 DDB1
10 mutagen sensitivity 31.6 XRCC1 XPA RAD23B ERCC2
11 lung cancer susceptibility 3 31.6 XRCC1 XPA PARP1 H2AC18 ERCC1 ATM
12 xeroderma pigmentosum, complementation group g 31.5 XRCC1 XPA RAD23B H2AC18 ERCC6 ERCC2
13 autosomal genetic disease 31.4 XPA H2AC18 ERCC6 ERCC1 ATM
14 xeroderma pigmentosum group e 31.0 XPA RAD23B H2AC18 ERCC6 ERCC2 ERCC1
15 telangiectasis 30.8 H2AC18 ERCC6 ATM
16 xeroderma pigmentosum, complementation group d 30.7 XRCC1 XPA RAD23B H2AC18 ERCC6 ERCC2
17 uv-sensitive syndrome 30.2 XPA XAB2 RAD23B H2AC18 ERCC6 ERCC2
18 rothmund-thomson syndrome, type 2 30.1 H2AC18 ERCC6 ATM
19 skin carcinoma 30.0 XPA H2AC18 ERCC6 ERCC2 DDB2
20 xeroderma pigmentosum, complementation group f 29.9 XPA RAD23B ERCC6 ERCC2 ERCC1 DDB2
21 fanconi anemia, complementation group a 29.8 XRCC1 XPA RPA2 PSAP PARP1 H2AC18
22 basal cell carcinoma 29.8 XRCC1 XPA ERCC2 ERCC1 DDB2
23 autosomal recessive disease 29.8 XPA H2AC18 ERCC6 ERCC2 ERCC1 ATM
24 xeroderma pigmentosum, variant type 29.7 XRCC1 XPA XAB2 RPA2 RPA1 RAD23B
25 trichothiodystrophy 1, photosensitive 29.7 XRCC1 XPA RAD23B H2AC18 ERCC6 ERCC2
26 cockayne syndrome 29.2 XPA XAB2 PARP1 ERCC6 ERCC2 ERCC1
27 lung cancer 11.7
28 ovarian cancer 11.7
29 skin benign neoplasm 11.5
30 multiple self-healing squamous epithelioma 11.4
31 laminopathy 11.4
32 ocular cancer 11.2
33 basal cell nevus syndrome 11.0
34 melanoma, cutaneous malignant 1 11.0
35 conjunctival degeneration 11.0
36 ataxia and polyneuropathy, adult-onset 10.4
37 adenoma 10.3
38 lung cancer susceptibility 1 10.3
39 spasmodic dystonia 10.2
40 skin disease 10.2
41 dystonia 10.2
42 spasmodic dysphonia 10.2
43 dysphagia 10.2
44 cerebro-oculo-facio-skeletal syndrome 10.2 ERCC6 ERCC2 ERCC1
45 cerebrooculofacioskeletal syndrome 1 10.2 ERCC6 ERCC2 ERCC1
46 esophageal cancer 10.2
47 endometrial cancer 10.2
48 allergic hypersensitivity disease 10.2
49 squamous cell carcinoma 10.2
50 erythrokeratoderma ''en cocardes'' 10.2

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 microcephaly 31 HP:0000252
3 sensorineural hearing impairment 31 HP:0000407
4 photophobia 31 HP:0000613
5 spasticity 31 HP:0001257
6 ataxia 31 HP:0001251
7 cutaneous photosensitivity 31 HP:0000992
8 melanoma 31 HP:0002861
9 mental deterioration 31 HP:0001268
10 conjunctivitis 31 HP:0000509
11 keratitis 31 HP:0000491
12 hyporeflexia 31 HP:0001265
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:

56
Neuro:
microcephaly
spasticity
ataxia
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

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

26 (show all 32)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 10.22 NCBP1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.22 DDB1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-109 10.22 DDB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-111 10.22 DDB1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.22 NCBP1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-136 10.22 RPA2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-145 10.22 ERCC1 RPA2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-148 10.22 DDB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-153 10.22 NCBP1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.22 ERCC1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.22 NCBP1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.22 ERCC1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-170 10.22 PARP1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-18 10.22 ERCC1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-180 10.22 NCBP1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-181 10.22 ERCC1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-204 10.22 ERCC1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-213 10.22 DDB1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.22 NCBP1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10.22 PARP1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.22 PARP1 PSAP
22 Increased shRNA abundance (Z-score > 2) GR00366-A-45 10.22 RPA2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.22 NCBP1 PSAP
24 Increased shRNA abundance (Z-score > 2) GR00366-A-6 10.22 NCBP1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.22 DDB1 ERCC1 NCBP1 PARP1 RPA2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-65 10.22 NCBP1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.22 PARP1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-84 10.22 PARP1 RPA2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.22 ERCC1
30 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.99 DDB2 ERCC6 GPN1 RPA1 XAB2 XRCC1
31 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.99 ATM DDB2 ERCC1 ERCC6 GPN1 RPA1
32 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.99 ATM DDB2 ERCC1 ERCC6 GPN1 RPA1

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 ATM DDB1 DDB2 ERCC1 ERCC2 ERCC6
2 behavior/neurological MP:0005386 10.11 ATM ERCC1 ERCC2 ERCC6 NEXMIF PARP1
3 growth/size/body region MP:0005378 10.03 ATM DDB2 ERCC1 ERCC2 ERCC6 NEXMIF
4 mortality/aging MP:0010768 10.03 ATM DDB1 DDB2 ERCC1 ERCC2 ERCC6
5 neoplasm MP:0002006 9.56 ATM DDB2 ERCC1 ERCC2 ERCC6 RPA1
6 vision/eye MP:0005391 9.23 DDB1 ERCC1 ERCC2 ERCC6 PARP1 PSAP

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, Brain, Lung, 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 442)
# Title Authors PMID Year
1
Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene. 6 56
1339397 1992
2
Three nonsense mutations responsible for group A xeroderma pigmentosum. 6 56
1372102 1992
3
Characterization of a splicing mutation in group A xeroderma pigmentosum. 56 6
1702221 1990
4
Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain. 6 56
2234061 1990
5
A novel XPA gene mutation and its functional analysis in a Japanese patient with xeroderma pigmentosum group A. 6 61
16098033 2005
6
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 56
9671271 1998
7
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
8
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
9
Xeroderma Pigmentosum 6
20301571 2003
10
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 56
10447254 1999
11
Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. 56
8797827 1996
12
Chronological difference in walking impairment among Japanese group A xeroderma pigmentosum (XP-A) patients with various combinations of mutation sites. 6
8825598 1995
13
A deletion and an insertion in the alleles for the xeroderma pigmentosum (XPA) DNA-binding protein in mildly affected patients. 6
8541864 1995
14
The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm. 56
8053698 1994
15
Sunlight avoidance and cancer prevention in xeroderma pigmentosum. 56
8002661 1994
16
It was a very good year for DNA repair. 56
8287470 1994
17
A child with xeroderma pigmentosum and bone marrow failure. 56
1571258 1992
18
The genetic basis of xeroderma pigmentosum. 56
1809220 1991
19
Peripheral neuropathy in xeroderma pigmentosum. 56
2168777 1990
20
Do we know the cause of xeroderma pigmentosum? 56
2189596 1990
21
Carrier detection in xeroderma pigmentosum. 56
2295692 1990
22
Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin. 56
3287161 1988
23
Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. 56
3545087 1987
24
Microinjection of partially purified protein factor restores DNA damage specifically in group A of xeroderma pigmentosum cells. 56
3456596 1986
25
Studies on gene transfer and reversion to UV resistance in xeroderma pigmentosum cells. 56
3000003 1985
26
Xeroderma pigmentosum fibroblasts are more sensitive to asbestos fibers than are normal human fibroblasts. 56
6321052 1984
27
Xeroderma pigmentosum in Egypt. III. ABO blood grouping in 22 affected families. 56
6712155 1984
28
Microinjection of human cell extracts corrects xeroderma pigmentosum defect. 56
6357782 1983
29
Congenital malformations and developmental disabilities in ataxia-telangiectasia, Fanconi anemia, and xeroderma pigmentosum families. 56
7124732 1982
30
Phenotypic correction of the defect in xeroderma pigmentosum cells after fusion with isolated cytoplasts. 56
7106197 1982
31
Frequency of UV-induced neoplastic transformation of diploid human fibroblasts is higher in xeroderma pigmentosum cells than in normal cells. 56
6953417 1982
32
Ataxia-telangiectasia and xeroderma pigmentosum: no evidence of linkage to HLA. 56
7466773 1980
33
Differences in the levels of UV repair and in clinical symptoms in two sibs affected by xeroderma pigmentosum. 56
7390491 1980
34
Cancer in families with xeroderma pigmentosum. 56
286113 1979
35
Clinical, genetic and DNA repair studies on a consecutive series of patients with xeroderma pigmentosum. 56
504548 1979
36
Spontaneous regression of metastatic malignant melanoma in 2 sibs with xeroderma pigmentosum. 56
739525 1978
37
Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation. 56
273925 1978
38
Frequency of ultraviolet light-induced mutations is higher in xeroderma pigmentosum variant cells than in normal human cells. 56
934300 1976
39
Five complementation groups in xeroderma pigmentosum. 56
1243579 1975
40
Xeroderma pigmentosum variants have decreased repair of ultraviolet-damaged DNA. 56
1113871 1975
41
Xeroderma pigmentosum: biochemical and genetic characteristics. 56
1108765 1975
42
Genetic heterogeneity in xeroderma pigmentosum: complementation groups and their relationship to DNA repair rates. 56
164028 1975
43
Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. 56
4811796 1974
44
A third complementation group in xeroderma pigmentosum. 56
4842087 1974
45
Muscular abnormality in xeroderma pigmentosum. High resolution light-microscopy and electron-microscopic observations. 56
5086257 1972
46
Survival and DNA repair of somatic cell hybrids after ultraviolet irradiation. 56
4512835 1972
47
Xeroderma pigmentosum: a rapid sensitive method for prenatal diagnosis. 56
5119624 1971
48
Defective repair replication of DNA in xeroderma pigmentosum. 56
5655953 1968
49
[Chromosomal asynchrony in a case of xeroderma pigmentosum]. 56
5301697 1967
50
XERODERMA PIGMENTOSUM--ITS INHERITANCE AND RELATIONSHIP TO THE ABO BLOOD-GROUP SYSTEM. 56
14304640 1965

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

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

73
# 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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 XAB2 RPA2 RPA1 PARP1 NCBP1 HSPA1A
2
Show member pathways
13 ZNF830 XRCC1 XPA XAB2 RPA2 RPA1
3
Show member pathways
12.65 XRCC1 RPA2 RPA1 PARP1 DDB1
4
Show member pathways
12.63 XRCC1 XPA XAB2 RPA2 RAD23B PARP1
5 12.43 XRCC1 XPA RPA2 RPA1 RAD23B ERCC2
6
Show member pathways
12.29 RPA2 RPA1 H2AC18 ATM
7
Show member pathways
12.17 ZNF830 XRCC1 XPA XAB2 RPA2 RPA1
8
Show member pathways
12.05 RPA2 RPA1 ERCC1 ATM
9
Show member pathways
11.97 RPA2 RPA1 HSPA1A ATM
10
Show member pathways
11.72 XPA RPA2 RPA1 RAD23B PARP1 ERCC6
11 11.64 RPA2 RPA1 ERCC1
12 11.52 XPA ERCC1 ATM
13 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 10.13 ZNF830 XRCC1 XPA XAB2 RPA2 RPA1
2 nucleoplasm GO:0005654 9.58 ZNF830 XRCC1 XPA XAB2 RPA2 RPA1
3 site of DNA damage GO:0090734 9.5 RPA1 PARP1 ERCC6
4 nuclear chromosome, telomeric region GO:0000784 9.5 XRCC1 RPA2 RPA1 PARP1 ERCC1 DDB1
5 Cul4B-RING E3 ubiquitin ligase complex GO:0031465 9.43 DDB2 DDB1
6 DNA replication factor A complex GO:0005662 9.43 XPA RPA2 RPA1
7 ERCC4-ERCC1 complex GO:0070522 9.4 XRCC1 ERCC1
8 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 39)
# Name GO ID Score Top Affiliating Genes
1 nucleotide-excision repair, DNA incision GO:0033683 10.06 XPA RPA2 RPA1 PARP1 ERCC2 ERCC1
2 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 10.03 XPA RPA2 RPA1 PARP1 ERCC2 ERCC1
3 global genome nucleotide-excision repair GO:0070911 10.02 XPA RAD23B PARP1 ERCC2 ERCC1 DDB2
4 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 10.01 XPA RPA2 RPA1 PARP1 ERCC2 ERCC1
5 transcription by RNA polymerase II GO:0006366 9.98 PARP1 NCBP1 ERCC6 ERCC2
6 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.97 XPA RAD23B PARP1 ERCC2 DDB2 DDB1
7 nucleotide-excision repair, preincision complex assembly GO:0006294 9.97 XPA RPA2 RPA1 RAD23B PARP1 ERCC2
8 multicellular organism growth GO:0035264 9.96 XPA ERCC6 ERCC2 ERCC1 ATM
9 double-strand break repair via homologous recombination GO:0000724 9.95 XRCC1 RPA2 RPA1 PARP1 ATM
10 response to oxidative stress GO:0006979 9.93 XPA ERCC6 ERCC2 ERCC1
11 base-excision repair GO:0006284 9.92 XRCC1 XPA RPA2 RPA1 ERCC6
12 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.92 XPA RPA2 RPA1 PARP1 ERCC2 ERCC1
13 regulation of cellular response to heat GO:1900034 9.91 RPA2 RPA1 HSPA1A ATM
14 nucleotide-excision repair, DNA damage recognition GO:0000715 9.91 XPA RAD23B PARP1 DDB2 DDB1
15 response to UV GO:0009411 9.88 XPA ERCC6 ERCC2 DDB2
16 telomere maintenance GO:0000723 9.88 RPA2 RPA1 PARP1 ATM
17 DNA damage response, detection of DNA damage GO:0042769 9.87 RPA2 RPA1 PARP1 DDB1
18 nucleotide-excision repair GO:0006289 9.86 XPA RPA2 RPA1 RAD23B ERCC2 ERCC1
19 DNA recombination GO:0006310 9.85 RPA2 RPA1 ERCC1
20 transcription-coupled nucleotide-excision repair GO:0006283 9.85 ZNF830 XRCC1 XPA XAB2 RPA2 RPA1
21 regulation of autophagy GO:0010506 9.84 XPA PSAP ATM
22 UV-damage excision repair GO:0070914 9.84 XPA ERCC1 DDB2 DDB1
23 double-strand break repair via nonhomologous end joining GO:0006303 9.83 XRCC1 ERCC1 ATM
24 interstrand cross-link repair GO:0036297 9.83 RPA2 RPA1 ERCC1
25 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.83 XPA ERCC6 ATM
26 embryonic organ development GO:0048568 9.81 RAD23B ERCC2 ERCC1
27 nucleotide-excision repair, DNA gap filling GO:0006297 9.79 XRCC1 RPA2 RPA1
28 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.77 XPA ERCC6 ERCC1
29 UV protection GO:0009650 9.77 XPA ERCC2 ERCC1
30 cellular response to DNA damage stimulus GO:0006974 9.77 XRCC1 XPA XAB2 RPA2 RPA1 RAD23B
31 histone H2A monoubiquitination GO:0035518 9.67 DDB2 DDB1
32 single strand break repair GO:0000012 9.67 XRCC1 ERCC6
33 positive regulation of double-strand break repair via homologous recombination GO:1905168 9.67 PARP1 ERCC6
34 protein localization to chromosome GO:0034502 9.65 RPA2 RPA1
35 pyrimidine dimer repair GO:0006290 9.64 ERCC6 DDB2
36 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.63 XRCC1 ERCC1
37 telomeric DNA-containing double minutes formation GO:0061819 9.62 XRCC1 ERCC1
38 positive regulation of single strand break repair GO:1903518 9.62 XRCC1 PARP1
39 DNA repair GO:0006281 9.44 XRCC1 XPA XAB2 RPA2 RPA1 RAD23B

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 XPA XAB2 RPA2 RPA1
2 DNA binding GO:0003677 9.9 XPA RPA2 RPA1 PARP1 H2AC18 ERCC6
3 single-stranded DNA binding GO:0003697 9.56 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 9.32 XRCC1 ERCC1
7 damaged DNA binding GO:0003684 9.28 XRCC1 XPA RPA2 RPA1 RAD23B ERCC2

Sources for Xeroderma Pigmentosum, Complementation Group a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....