XPC
MCID: XRD030
MIFTS: 55

Xeroderma Pigmentosum, Complementation Group C (XPC)

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

Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group C

MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group C:

Name: Xeroderma Pigmentosum, Complementation Group C 57 39 70
Xeroderma Pigmentosum, Group C 57 29 13 6
Xeroderma Pigmentosum Iii 57 12 72
Xpcc 57 12 72
Xpc 57 12 72
Xp3 57 12 72
Xeroderma Pigmentosum Group C 12 15
Xp Group C 12 72
Xeroderma Pigmentosum Complementation Group C 72
Xeroderma Pigmentosum Iii; Xp3 57
Xeroderma Pigmentosum, Type 3 73
Xp, Group C 57
Xp-C 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood


HPO:

31
xeroderma pigmentosum, complementation group c:
Inheritance autosomal recessive inheritance
Onset and clinical course childhood onset


Classifications:



Summaries for Xeroderma Pigmentosum, Complementation Group C

OMIM® : 57 Xeroderma pigmentosum is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer resulting from a defect in DNA repair. XPC is the most common form of XP in the white population, accounting for over a third of all cases in this group (review by Li et al., 1993). For a general discussion of xeroderma pigmentosum, see XPA (278700). (278720) (Updated 05-Apr-2021)

MalaCards based summary : Xeroderma Pigmentosum, Complementation Group C, also known as xeroderma pigmentosum, group c, is related to mutagen sensitivity and trichothiodystrophy, and has symptoms including photophobia An important gene associated with Xeroderma Pigmentosum, Complementation Group C is XPC (XPC Complex Subunit, DNA Damage Recognition And Repair Factor), and among its related pathways/superpathways are Metabolism of proteins and Regulation of TP53 Activity. Affiliated tissues include skin, lung and prostate, and related phenotypes are photophobia and conjunctivitis

Disease Ontology : 12 A xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that has material basis in mutation in the XPC gene on chromosome 3p25.

UniProtKB/Swiss-Prot : 72 Xeroderma pigmentosum complementation group C: 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.

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 C

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

(show top 50) (show all 133)
# Related Disease Score Top Affiliating Genes
1 mutagen sensitivity 31.4 XRCC1 XPC XPA RAD23B
2 trichothiodystrophy 31.2 XPC XPA ERCC6 ERCC3 ERCC1
3 xeroderma pigmentosum, complementation group e 31.1 XPC XPA DDB2 DDB1 CUL4A
4 xeroderma pigmentosum group e 30.1 XPC XPA RAD23B H2AC18 ERCC6 ERCC3
5 autosomal recessive disease 30.0 XPA H2AC18 ERCC6 ERCC3
6 cockayne syndrome a 29.9 XPA ERCC6 ERCC3 ERCC1 DDB1
7 uv-sensitive syndrome 29.8 XPC XPA RAD23B H2AC18 ERCC6 ERCC3
8 skin carcinoma 29.6 XRCC1 XPC XPA H2AC18 ERCC6 ERCC3
9 xeroderma pigmentosum, complementation group b 29.2 XPC XPA RAD23B H2AC18 GTF2H3 GTF2H1
10 xeroderma pigmentosum, complementation group f 29.2 XPA RAD23B ERCC6 ERCC3 ERCC1 DDB2
11 xeroderma pigmentosum, complementation group a 29.2 XRCC1 XPC XPA RAD23B H2AC18 ERCC6
12 xeroderma pigmentosum, complementation group g 28.7 XRCC1 XPC XPA RAD23B RAD23A H2AC18
13 xeroderma pigmentosum, variant type 28.4 XRCC1 XPC XPA RECQL RAD23B RAD23A
14 cockayne syndrome 28.3 XPC XPA H2AC18 GTF2H3 GTF2H1 ERCC6
15 xeroderma pigmentosum, complementation group d 28.2 XRCC1 XPC XPA RAD23B H2AC18 GTF2H3
16 li-fraumeni syndrome 11.0
17 prostate calculus 10.9
18 bladder cancer 10.4
19 lung cancer 10.4
20 lung cancer susceptibility 3 10.4
21 squamous cell carcinoma 10.4
22 lung squamous cell carcinoma 10.4
23 premature aging 10.3
24 ovarian cancer 10.3
25 schizophrenia 10.3
26 squamous cell carcinoma, head and neck 10.3
27 human immunodeficiency virus type 1 10.3
28 melanoma 10.3
29 basal cell carcinoma 10.3
30 adenocarcinoma 10.3
31 brain sarcoma 10.2 XPA RAD23A
32 lung cancer susceptibility 1 10.2
33 trichorhinophalangeal syndrome, type iii 10.1
34 ataxia-telangiectasia 10.1
35 autism 10.1
36 nasopharyngeal carcinoma 10.1
37 lymphoblastic lymphoma 10.1
38 hemangioma 10.1
39 testicular cancer 10.1
40 lung benign neoplasm 10.1
41 histiocytoid hemangioma 10.1
42 b-cell lymphoma 10.1
43 actinic keratosis 10.1
44 small cell cancer of the lung 10.1
45 myeloid leukemia 10.1
46 skin melanoma 10.1
47 erythrokeratoderma ''en cocardes'' 10.1
48 cerebro-oculo-facio-skeletal syndrome 10.1 ERCC6 ERCC3 ERCC1
49 photoparoxysmal response 1 10.1 XPA ERCC6 ERCC1
50 colorectal cancer 10.0

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



Diseases related to Xeroderma Pigmentosum, Complementation Group C

Symptoms & Phenotypes for Xeroderma Pigmentosum, Complementation Group C

Human phenotypes related to Xeroderma Pigmentosum, Complementation Group C:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 photophobia 31 HP:0000613
2 conjunctivitis 31 HP:0000509
3 keratitis 31 HP:0000491
4 cutaneous photosensitivity 31 HP:0000992
5 ectropion 31 HP:0000656
6 hypopigmentation of the skin 31 HP:0001010
7 squamous cell carcinoma of the skin 31 HP:0006739
8 basal cell carcinoma 31 HP:0002671
9 cutaneous melanoma 31 HP:0012056
10 poikiloderma 31 HP:0001029
11 telangiectasia 31 HP:0001009
12 dermal atrophy 31 HP:0004334
13 entropion 31 HP:0000621
14 defective dna repair after ultraviolet radiation damage 31 HP:0003079

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
photophobia

Skin Nails Hair Skin:
telangiectasia
skin atrophy
hypopigmentation
skin photosensitivity
early onset skin cancer (basal cell, squamous cell and malignant melanoma)
more

Clinical features from OMIM®:

278720 (Updated 05-Apr-2021)

UMLS symptoms related to Xeroderma Pigmentosum, Complementation Group C:


photophobia

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

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.32 UBB
2 Decreased viability GR00221-A-2 10.32 GTF2H1
3 Decreased viability GR00221-A-4 10.32 GTF2H1
4 Decreased viability GR00240-S-1 10.32 UBC
5 Decreased viability GR00249-S 10.32 RAD23A RAD23B UBB UBC XPC XRCC1
6 Decreased viability GR00381-A-1 10.32 DDB1 ERCC1 UBB UBC
7 Decreased viability GR00386-A-1 10.32 ERCC3 ERCC6 RAD23A RAD23B UBB UBC
8 Decreased viability GR00402-S-2 10.32 DDB1 UBB UBC
9 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.6 DDB2 ERCC6 XRCC1
10 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.6 DDB2 ERCC1 ERCC6 XRCC1
11 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.6 CETN2 DDB1 DDB2 ERCC1 ERCC3 ERCC6
12 Negative genetic interaction between BLM-/- and BLM+/+ GR00255-A-1 9.43 DDB2 GTF2H1 H2AC18 RAD23B UBB UBC
13 Increased cell death in HCT116 cells GR00103-A-0 9.33 CUL4A UBA2 UBC

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC3
2 mortality/aging MP:0010768 9.8 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC3
3 neoplasm MP:0002006 9.23 CUL4A DDB2 ERCC1 ERCC3 ERCC6 XPA

Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group C

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

Genetic Tests for Xeroderma Pigmentosum, Complementation Group C

Genetic tests related to Xeroderma Pigmentosum, Complementation Group C:

# Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Group C 29 XPC

Anatomical Context for Xeroderma Pigmentosum, Complementation Group C

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

40
Skin, Lung, Prostate, Breast, Tongue, Colon, Liver

Publications for Xeroderma Pigmentosum, Complementation Group C

Articles related to Xeroderma Pigmentosum, Complementation Group C:

(show top 50) (show all 314)
# Title Authors PMID Year
1
A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor. 6 61 57
11511294 2001
2
Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia. 57 6 61
9804340 1998
3
Characterization of molecular defects in xeroderma pigmentosum group C. 57 6 61
8298653 1993
4
High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis. 57 6
19478817 2009
5
Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk. 57 6
14662655 2004
6
Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels. 6 57
10766188 2000
7
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons. 61 6
24218596 2013
8
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa. 61 6
20054342 2010
9
Two-stage dynamic DNA quality check by xeroderma pigmentosum group C protein. 61 6
19609301 2009
10
Xeroderma pigmentosum group C in an isolated region of Guatemala. 61 6
16990803 2007
11
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. 61 6
16081512 2006
12
Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life. 6 61
11121128 2000
13
DNA repair in human xeroderma pigmentosum group C cells involves a different distribution of damaged sites in confluent and growing cells. 61 57
3774554 1986
14
Xeroderma pigmentosum. Complementation group C and malignant melanoma. 61 57
6696469 1984
15
Prenatal diagnosis of xeroderma pigmentosum (group C) using assays of unscheduled DNA synthesis and postreplication repair. 57 61
487635 1979
16
Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases. 6
31319225 2019
17
Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients. 6
27607234 2017
18
A unique chromosomal in-frame deletion identified among seven XP-C patients. 6
27387384 2016
19
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 6
26884178 2016
20
Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population. 6
25256075 2015
21
Atypical Clinical Presentation of Xeroderma Pigmentosum in a Patient Harboring a Novel Missense Mutation in the XPC Gene: The Importance of Clinical Suspicion. 6
26278556 2015
22
Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients. 6
25566891 2015
23
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
24
Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C. 6
23278166 2013
25
Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations. 6
23984341 2013
26
Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations. 6
23173980 2013
27
A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients. 6
21482201 2011
28
Founder mutations in xeroderma pigmentosum. 6
20463673 2010
29
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms. 6
18955168 2009
30
Skin cancers, blindness, and anterior tongue mass in African brothers. 6
19119101 2008
31
A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC. 6
17079196 2007
32
The initiative role of XPC protein in cisplatin DNA damaging treatment-mediated cell cycle regulation. 6
15107491 2004
33
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 57
10447254 1999
34
Xeroderma pigmentosum complementation group XP-I withdrawn. 57
2770764 1989
35
Ultraviolet light-induced chromosomal aberrations in cultured cells from Cockayne syndrome and complementation group C xeroderma pigmentosum patients: lack of correlation with cancer susceptibility. 57
3348214 1988
36
A ninth complementation group in xeroderma pigmentosum, XP I. 57
3982437 1985
37
Xeroderma pigmentosum exhibiting neurological disorders and systemic lupus erythematosus. 57
7389185 1980
38
Downregulation of Xeroderma Pigmentosum Complementation Group C Expression by 17-Allylamino-17-Demethoxygeldanamycin Enhances Bevacizumab-Induced Cytotoxicity in Human Lung Cancer Cells. 61
33202406 2021
39
Treatment of multiple facial basal cell carcinomas in a child with xeroderma pigmentosum complementation group C with Mohs micrographic surgery. 61
33325539 2021
40
Oroxylin A reverses hypoxia-induced cisplatin resistance through inhibiting HIF-1α mediated XPC transcription. 61
32978517 2020
41
XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature. 61
33203900 2020
42
HDAC3 Is Required for XPC Recruitment and Nucleotide Excision Repair of DNA Damage Induced by UV Irradiation. 61
32527949 2020
43
Effects of Xeroderma pigmentosum group C polymorphism on the likelihood of prostate cancer. 61
32488882 2020
44
NK Cell and Fibroblast-Mediated Regulation of Skin Squamous Cell Carcinoma Invasion by CLEC2A Is Compromised in Xeroderma Pigmentosum. 61
32061658 2020
45
A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C. 61
32843428 2020
46
Polymorphisms in XPC and XPD genes modulate DNA damage in pesticide-exposed agricultural workers of Punjab, North-West India. 61
32562175 2020
47
Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family. 61
31923348 2020
48
Association of XPC Polymorphisms with Cutaneous Malignant Melanoma Risk: Evidence from a Meta-Analysis. 61
33002396 2020
49
Association between three common genetic polymorphisms of XPC and susceptibility to heroin dependency. 61
31610221 2020
50
Comprehensive assessment of the association between XPC rs2228000 and cancer susceptibility based on 26835 cancer cases and 37069 controls. 61
31710080 2019

Variations for Xeroderma Pigmentosum, Complementation Group C

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

6 (show top 50) (show all 205)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 XPC NM_004628.4(XPC):c.621_622ins83 (p.?) Insertion Pathogenic 254 GRCh37:
GRCh38:
2 XPC K822Q Insertion Pathogenic 255 GRCh37:
GRCh38:
3 XPC NM_004628.5(XPC):c.1292_1293del (p.Lys431fs) Deletion Pathogenic 256 rs794729654 GRCh37: 3:14200090-14200091
GRCh38: 3:14158590-14158591
4 XPC NM_004628.4(XPC):c.2033+2T>G SNV Pathogenic 257 rs794729655 GRCh37: 3:14197833-14197833
GRCh38: 3:14156333-14156333
5 XPC NM_004628.4(XPC):c.413-9T>A SNV Pathogenic 260 rs794729656 GRCh37: 3:14209889-14209889
GRCh38: 3:14168389-14168389
6 XPC NM_004628.4(XPC):c.413-24A>G SNV Pathogenic 261 rs794729657 GRCh37: 3:14209904-14209904
GRCh38: 3:14168404-14168404
7 XPC NM_004628.5(XPC):c.2262del (p.Asn754fs) Deletion Pathogenic 190208 rs786205206 GRCh37: 3:14190220-14190220
GRCh38: 3:14148720-14148720
8 XPC NM_004628.5(XPC):c.1677C>A (p.Tyr559Ter) SNV Pathogenic 190211 rs767569346 GRCh37: 3:14199706-14199706
GRCh38: 3:14158206-14158206
9 XPC NM_004628.5(XPC):c.338_339AG[2] (p.Ala116fs) Microsatellite Pathogenic 553148 rs1228981894 GRCh37: 3:14212007-14212008
GRCh38: 3:14170507-14170508
10 XPC NM_004628.5(XPC):c.877C>T (p.Arg293Ter) SNV Pathogenic 554485 rs373519125 GRCh37: 3:14206336-14206336
GRCh38: 3:14164836-14164836
11 XPC NM_004628.5(XPC):c.739C>T (p.Arg247Ter) SNV Pathogenic 556301 rs764321665 GRCh37: 3:14206968-14206968
GRCh38: 3:14165468-14165468
12 XPC NM_004628.5(XPC):c.441_442GA[2] (p.Glu149fs) Microsatellite Pathogenic 557065 rs1402162002 GRCh37: 3:14209847-14209848
GRCh38: 3:14168347-14168348
13 XPC NM_004628.5(XPC):c.2287del (p.Leu763fs) Deletion Pathogenic 558141 rs1553604559 GRCh37: 3:14190195-14190195
GRCh38: 3:14148695-14148695
14 XPC NM_004628.5(XPC):c.2126_2129del (p.Gly709fs) Deletion Pathogenic 635329 rs1574950526 GRCh37: 3:14190435-14190438
GRCh38: 3:14148935-14148938
15 XPC NM_004628.5(XPC):c.524_525dup (p.Arg176fs) Duplication Pathogenic 916575 GRCh37: 3:14209767-14209768
GRCh38: 3:14168267-14168268
16 XPC NM_004628.5(XPC):c.669_670del (p.Ile223fs) Deletion Pathogenic 268082 GRCh37: 3:14207037-14207038
GRCh38: 3:14165537-14165538
17 XPC NM_004628.4(XPC):c.1894C>T (p.Gln632Ter) SNV Pathogenic 268083 GRCh37: 3:14197974-14197974
GRCh38: 3:14156474-14156474
18 XPC NM_004628.5(XPC):c.395_398del (p.Asp132fs) Deletion Pathogenic 916576 GRCh37: 3:14211952-14211955
GRCh38: 3:14170452-14170455
19 XPC NM_004628.5(XPC):c.2127del (p.Ser711fs) Deletion Pathogenic 916577 GRCh37: 3:14190437-14190437
GRCh38: 3:14148937-14148937
20 XPC NM_004628.5(XPC):c.1735C>T (p.Arg579Ter) SNV Pathogenic 259 rs121965088 GRCh37: 3:14199648-14199648
GRCh38: 3:14158148-14158148
21 XPC NM_004628.4(XPC):c.622-2A>C SNV Pathogenic 190209 rs201940931 GRCh37: 3:14207087-14207087
GRCh38: 3:14165587-14165587
22 XPC NM_004628.4(XPC):c.2251-1G>C SNV Pathogenic 190213 rs754673606 GRCh37: 3:14190232-14190232
GRCh38: 3:14148732-14148732
23 XPC NM_004628.5(XPC):c.658C>T (p.Arg220Ter) SNV Pathogenic 550020 rs745679643 GRCh37: 3:14207049-14207049
GRCh38: 3:14165549-14165549
24 XPC NM_004628.5(XPC):c.420_423del (p.Glu141fs) Deletion Pathogenic 550638 rs1330667099 GRCh37: 3:14209870-14209873
GRCh38: 3:14168370-14168373
25 XPC NM_004628.5(XPC):c.1103_1104del (p.Gln368fs) Deletion Pathogenic 267279 rs1450238352 GRCh37: 3:14200279-14200280
GRCh38: 3:14158779-14158780
26 XPC NM_004628.5(XPC):c.1243C>T (p.Arg415Ter) SNV Pathogenic 438623 rs757958943 GRCh37: 3:14200140-14200140
GRCh38: 3:14158640-14158640
27 XPC NM_004628.5(XPC):c.128del (p.Pro43fs) Deletion Pathogenic 551235 rs1260189637 GRCh37: 3:14214538-14214538
GRCh38: 3:14173038-14173038
28 XPC NM_004628.5(XPC):c.1639_1640TG[2] (p.Val548fs) Microsatellite Pathogenic 262 rs754532049 GRCh37: 3:14199739-14199740
GRCh38: 3:14158239-14158240
29 XPC NM_004628.4(XPC):c.1872+1G>C SNV Pathogenic 561144 rs1559374923 GRCh37: 3:14199510-14199510
GRCh38: 3:14158010-14158010
30 XPC NM_004628.5(XPC):c.780-2A>T SNV Pathogenic 1028796 GRCh37: 3:14206435-14206435
GRCh38: 3:14164935-14164935
31 XPC NM_004628.5(XPC):c.43G>T (p.Glu15Ter) SNV Pathogenic 1034102 GRCh37: 3:14220026-14220026
GRCh38: 3:14178526-14178526
32 XPC NM_004628.5(XPC):c.2152C>T (p.Arg718Ter) SNV Likely pathogenic 551486 rs754775337 GRCh37: 3:14190412-14190412
GRCh38: 3:14148912-14148912
33 XPC NM_004628.5(XPC):c.2074A>T (p.Lys692Ter) SNV Likely pathogenic 496267 rs374117852 GRCh37: 3:14193876-14193876
GRCh38: 3:14152376-14152376
34 XPC NM_001354727.2(XPC):c.1872+1577del Deletion Likely pathogenic 555481 rs1553605497 GRCh37: 3:14197934-14197934
GRCh38: 3:14156434-14156434
35 XPC NM_004628.5(XPC):c.470_471del (p.Leu157fs) Deletion Likely pathogenic 804433 rs1574972784 GRCh37: 3:14209822-14209823
GRCh38: 3:14168322-14168323
36 XPC NM_004628.5(XPC):c.612_613CA[3] (p.His206fs) Microsatellite Likely pathogenic 558641 rs1553606979 GRCh37: 3:14208671-14208672
GRCh38: 3:14167171-14167172
37 XPC NM_004628.4(XPC):c.2033+1G>A SNV Likely pathogenic 558179 rs764480429 GRCh37: 3:14197834-14197834
GRCh38: 3:14156334-14156334
38 XPC NM_004628.5(XPC):c.1289_1293del (p.Ser429_Tyr430insTer) Deletion Likely pathogenic 558241 rs1553605813 GRCh37: 3:14200090-14200094
GRCh38: 3:14158590-14158594
39 XPC NM_004628.4(XPC):c.2251-2A>G SNV Likely pathogenic 558243 rs1553604570 GRCh37: 3:14190233-14190233
GRCh38: 3:14148733-14148733
40 XPC NM_004628.5(XPC):c.1686del (p.Thr563fs) Deletion Likely pathogenic 558522 rs1553605655 GRCh37: 3:14199697-14199697
GRCh38: 3:14158197-14158197
41 XPC NM_004628.5(XPC):c.2218G>T (p.Glu740Ter) SNV Likely pathogenic 557140 rs770308917 GRCh37: 3:14190346-14190346
GRCh38: 3:14148846-14148846
42 XPC NM_004628.5(XPC):c.2331dup (p.Asn778fs) Duplication Likely pathogenic 555832 rs1553604552 GRCh37: 3:14190150-14190151
GRCh38: 3:14148650-14148651
43 XPC NM_004628.5(XPC):c.1293_1294insT (p.Glu432Ter) Insertion Likely pathogenic 556913 rs1553605805 GRCh37: 3:14200089-14200090
GRCh38: 3:14158589-14158590
44 XPC NM_004628.5(XPC):c.409dup (p.Glu137fs) Duplication Likely pathogenic 557268 rs1208223013 GRCh37: 3:14211940-14211941
GRCh38: 3:14170440-14170441
45 XPC NM_004628.5(XPC):c.2101G>T (p.Glu701Ter) SNV Likely pathogenic 557297 rs1553605023 GRCh37: 3:14193849-14193849
GRCh38: 3:14152349-14152349
46 XPC NM_004628.4(XPC):c.537-1G>C SNV Likely pathogenic 557580 rs1326646197 GRCh37: 3:14208754-14208754
GRCh38: 3:14167254-14167254
47 XPC NM_004628.5(XPC):c.1326_1327CT[1] (p.Gly442_Ser443insTer) Microsatellite Likely pathogenic 556820 rs1553605795 GRCh37: 3:14200054-14200055
GRCh38: 3:14158554-14158555
48 XPC NM_004628.4(XPC):c.779+1G>T SNV Likely pathogenic 554889 rs975121308 GRCh37: 3:14206927-14206927
GRCh38: 3:14165427-14165427
49 XPC NM_004628.5(XPC):c.1748_1749AG[1] (p.Arg584fs) Microsatellite Likely pathogenic 555204 rs752030576 GRCh37: 3:14199632-14199633
GRCh38: 3:14158132-14158133
50 XPC NM_004628.5(XPC):c.1A>T (p.Met1Leu) SNV Likely pathogenic 555303 rs763678756 GRCh37: 3:14220068-14220068
GRCh38: 3:14178568-14178568

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

72
# Symbol AA change Variation ID SNP ID
1 XPC p.Pro334His VAR_005846 rs74737358
2 XPC p.Trp690Ser VAR_064039

Expression for Xeroderma Pigmentosum, Complementation Group C

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

Pathways for Xeroderma Pigmentosum, Complementation Group C

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

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.66 XPC UBC UBB UBA2 RAD23B RAD23A
2
Show member pathways
12.82 UBC UBB GTF2H3 GTF2H1 ERCC3 DDB2
3
Show member pathways
12.72 XRCC1 UBC UBB DDB1 CUL4A
4
Show member pathways
12.69 UBC UBB RAD23B RAD23A H2AC18 DDB2
5
Show member pathways
12.6 XRCC1 XPC XPA UBC UBB RAD23B
6
Show member pathways
12.59 XRCC1 XPC XPA UBC UBB RAD23B
7
Show member pathways
12.53 XRCC1 XPC XPA UBC UBB RAD23B
8 12.49 XRCC1 XPC XPA RECQL RAD23B RAD23A
9
Show member pathways
12.14 UBC UBB DDB1 CUL4A
10
Show member pathways
12.1 XPC XPA UBC UBB RAD23B RAD23A
11 12.03 UBC UBB UBA2 DDB2 DDB1 CUL4A
12
Show member pathways
11.82 GTF2H3 GTF2H1 ERCC6 ERCC3
13 11.71 UBC UBB ERCC1
14
Show member pathways
11.66 UBC UBB RAD23B
15 11.59 XPC XPA GTF2H3 GTF2H1 ERCC3
16
Show member pathways
11.44 UBC UBB UBA2
17 11.27 UBC UBB H2AC18
18 11.2 XPA ERCC6 ERCC3 ERCC1
19 10.75 UBC UBB RAD23B RAD23A

GO Terms for Xeroderma Pigmentosum, Complementation Group C

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.11 XRCC1 XPC XPA UBC UBB UBA2
2 nucleoplasm GO:0005654 9.58 XRCC1 XPC XPA UBC UBB UBA2
3 Cul4-RING E3 ubiquitin ligase complex GO:0080008 9.54 DDB2 DDB1 CUL4A
4 cullin-RING ubiquitin ligase complex GO:0031461 9.52 DDB1 CUL4A
5 Cul4A-RING E3 ubiquitin ligase complex GO:0031464 9.51 DDB1 CUL4A
6 transcription factor TFIIH holo complex GO:0005675 9.5 GTF2H3 GTF2H1 ERCC3
7 transcriptional preinitiation complex GO:0097550 9.49 GTF2H3 ERCC3
8 nucleotide-excision repair complex GO:0000109 9.48 XPC ERCC1
9 Cul4B-RING E3 ubiquitin ligase complex GO:0031465 9.46 DDB2 DDB1
10 ERCC4-ERCC1 complex GO:0070522 9.43 XRCC1 ERCC1
11 transcription factor TFIIH core complex GO:0000439 9.43 GTF2H3 GTF2H1 ERCC3
12 nucleotide-excision repair factor 1 complex GO:0000110 9.4 XPA ERCC1
13 XPC complex GO:0071942 9.13 XPC RAD23B CETN2

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

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 nucleotide-excision repair, DNA incision GO:0033683 10.16 XPA UBC UBB GTF2H3 GTF2H1 ERCC3
2 nucleotide-excision repair GO:0006289 10.14 XPC XPA RAD23B RAD23A GTF2H3 GTF2H1
3 nucleotide-excision repair, DNA damage recognition GO:0000715 10.13 XPC XPA UBC UBB RAD23B DDB2
4 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 10.13 XPA UBC UBB GTF2H3 GTF2H1 ERCC3
5 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 10.11 XPA GTF2H3 GTF2H1 ERCC3 ERCC1 DDB2
6 transcription-coupled nucleotide-excision repair GO:0006283 10.11 XRCC1 XPA UBC UBB GTF2H3 GTF2H1
7 nucleotide-excision repair, preincision complex stabilization GO:0006293 10.1 XPA GTF2H3 GTF2H1 ERCC3 ERCC1 DDB2
8 nucleotide-excision repair, preincision complex assembly GO:0006294 10.1 XPC XPA UBC UBB RAD23B GTF2H3
9 protein ubiquitination GO:0016567 10.09 UBC UBB DDB2 DDB1 CUL4A
10 nucleotide-excision repair, DNA duplex unwinding GO:0000717 10.03 XPC XPA UBC UBB RAD23B GTF2H3
11 protein deubiquitination GO:0016579 9.97 UBC UBB RAD23B RAD23A DDB2
12 global genome nucleotide-excision repair GO:0070911 9.97 XPC XPA UBC UBB RAD23B GTF2H3
13 transcription by RNA polymerase II GO:0006366 9.95 GTF2H3 GTF2H1 ERCC6 ERCC3
14 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.95 RAD23B RAD23A DDB1 CUL4A
15 UV-damage excision repair GO:0070914 9.92 XPC XPA ERCC1 DDB2 DDB1
16 DNA duplex unwinding GO:0032508 9.85 RECQL ERCC6 ERCC3
17 regulation of mitotic cell cycle phase transition GO:1901990 9.85 XPC ERCC3 DDB1
18 DNA damage response, detection of DNA damage GO:0042769 9.85 UBC UBB DDB1 CUL4A
19 transcription elongation from RNA polymerase II promoter GO:0006368 9.84 GTF2H3 GTF2H1 ERCC3
20 transcription elongation from RNA polymerase I promoter GO:0006362 9.84 GTF2H3 GTF2H1 ERCC6 ERCC3
21 interstrand cross-link repair GO:0036297 9.82 UBC UBB ERCC1
22 response to UV GO:0009411 9.81 ERCC6 ERCC3 DDB2
23 embryonic organ development GO:0048568 9.8 RAD23B ERCC3 ERCC1
24 cellular response to DNA damage stimulus GO:0006974 9.8 XRCC1 XPC XPA RAD23B RAD23A GTF2H3
25 transcription initiation from RNA polymerase I promoter GO:0006361 9.79 GTF2H3 GTF2H1 ERCC3
26 7-methylguanosine mRNA capping GO:0006370 9.77 GTF2H3 GTF2H1 ERCC3
27 base-excision repair GO:0006284 9.77 XRCC1 XPA ERCC6
28 termination of RNA polymerase I transcription GO:0006363 9.76 GTF2H3 GTF2H1 ERCC3
29 nucleotide-excision repair, DNA gap filling GO:0006297 9.74 XRCC1 UBC UBB
30 UV protection GO:0009650 9.73 XPA ERCC3 ERCC1
31 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.69 ERCC6 ERCC1
32 regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032434 9.69 RAD23B RAD23A
33 response to auditory stimulus GO:0010996 9.68 XPC XPA
34 histone H2A monoubiquitination GO:0035518 9.68 DDB2 DDB1
35 virion assembly GO:0019068 9.68 UBC UBB
36 single strand break repair GO:0000012 9.67 XRCC1 ERCC6
37 modification-dependent protein catabolic process GO:0019941 9.67 UBC UBB
38 phosphorylation of RNA polymerase II C-terminal domain GO:0070816 9.66 GTF2H3 GTF2H1
39 response to UV-B GO:0010224 9.65 XPC ERCC6
40 pyrimidine dimer repair GO:0006290 9.63 ERCC6 DDB2
41 pyrimidine dimer repair by nucleotide-excision repair GO:0000720 9.63 XPC ERCC1
42 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.61 XRCC1 ERCC1
43 telomeric DNA-containing double minutes formation GO:0061819 9.61 XRCC1 ERCC1
44 DNA repair GO:0006281 9.5 XRCC1 XPC XPA RECQL RAD23B RAD23A

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.16 XRCC1 XPC XPA UBC UBB UBA2
2 DNA binding GO:0003677 9.97 XPC XPA RECQL H2AC18 ERCC6 ERCC3
3 protein N-terminus binding GO:0047485 9.63 GTF2H3 ERCC6 ERCC3
4 DNA helicase activity GO:0003678 9.54 RECQL ERCC6 ERCC3
5 proteasome binding GO:0070628 9.48 RAD23B RAD23A
6 3'-5' DNA helicase activity GO:0043138 9.43 RECQL ERCC3
7 protein tag GO:0031386 9.4 UBC UBB
8 damaged DNA binding GO:0003684 9.28 XRCC1 XPC XPA RAD23B RAD23A ERCC3
9 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.26 XRCC1 ERCC1
10 single-stranded DNA binding GO:0003697 9.26 XPC RAD23B RAD23A ERCC1

Sources for Xeroderma Pigmentosum, Complementation Group C

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
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