XPD
MCID: XRD022
MIFTS: 56

Xeroderma Pigmentosum, Complementation Group D (XPD)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Skin diseases
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Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group D

MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group D:

Name: Xeroderma Pigmentosum, Complementation Group D 57 53 71
Xeroderma Pigmentosum, Group D 57 28 12 5
Xeroderma Pigmentosum Iv 57 11 73
Xpdc 57 11 73
Xeroderma Pigmentosum Group D 11 14
Xeroderma Pigmentosum Viii 11 73
Xp Group D 11 73
Xp Group H 11 73
Xpd 57 11
Xp4 11 73
Xp8 11 73
Xph 11 73
Xeroderma Pigmentosum Complementation Group D 73
Xp4 Xeroderma Pigmentosum Viii, Formerly 57
Xp, Group H, Formerly 57
Xp8, Formerly 57
Xph, Formerly 57
Xp, Group D 57
Xp-D/cs 73
Xp-D 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
later onset of neurologic features


Classifications:



Summaries for Xeroderma Pigmentosum, Complementation Group D

UniProtKB/Swiss-Prot: 73 An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-D patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex.

MalaCards based summary: Xeroderma Pigmentosum, Complementation Group D, also known as xeroderma pigmentosum, group d, is related to cerebrooculofacioskeletal syndrome and skin carcinoma, and has symptoms including ataxia, muscle spasticity and photophobia. An important gene associated with Xeroderma Pigmentosum, Complementation Group D is ERCC2 (ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit), and among its related pathways/superpathways are Homology Directed Repair and RNA Polymerase II Transcription Initiation And Promoter Clearance. Affiliated tissues include skin, eye and lung, and related phenotypes are corneal neovascularization and keratoconjunctivitis sicca

OMIM®: 57 Xeroderma pigmentosum is a rare autosomal recessive disorder characterized by acute photosensitivity and a predisposition to skin cancer on sun-exposed areas of the body. The primary defect in XP involves nucleotide excision repair (NER) (summary by Flejter et al., 1992). (278730) (Updated 24-Oct-2022)

Disease Ontology: 11 A xeroderma pigmentosum that has material basis in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13.

Related Diseases for Xeroderma Pigmentosum, Complementation Group D

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

(show top 50) (show all 245)
# Related Disease Score Top Affiliating Genes
1 cerebrooculofacioskeletal syndrome 31.4 XPA GTF2H5 ERCC3 ERCC2 ERCC1
2 skin carcinoma 30.4 XRCC3 XPA ERCC3 ERCC2
3 xeroderma pigmentosum, complementation group a 30.4 XRCC1 XPA ERCC3 ERCC2 ERCC1
4 fanconi anemia, complementation group j 30.3 RTEL1 DDX11 BRIP1
5 cerebrooculofacioskeletal syndrome 1 30.3 ERCC3 ERCC2 ERCC1
6 trichothiodystrophy 1, photosensitive 30.3 GTF2H5 ERCC3 ERCC2
7 trichothiodystrophy 3, photosensitive 30.1 GTF2H5 ERCC3 ERCC2
8 parkinsonism with spasticity, x-linked 30.1 ERCC3 ERCC2 BRIP1
9 xeroderma pigmentosum-cockayne syndrome complex 30.0 ERCC3 ERCC2
10 hereditary breast ovarian cancer syndrome 29.9 XRCC3 XRCC1 ERCC2 ERCC1 BRIP1
11 uv-sensitive syndrome 29.9 XPA OGG1 GTF2H5 ERCC3 ERCC2 ERCC1
12 skin benign neoplasm 29.8 XPA ERCC3 ERCC2
13 xeroderma pigmentosum, complementation group c 29.8 XRCC1 XPA ERCC3 ERCC2 ERCC1
14 tobacco addiction 29.7 XRCC1 GSTP1 GSTM1
15 cockayne syndrome b 29.7 XPA OGG1 ERCC3 ERCC2 ERCC1
16 cataract 29.7 XRCC1 OGG1 GSTP1 GSTM1 ERCC2
17 xeroderma pigmentosum, complementation group b 29.5 XPA GTF2H5 ERCC3 ERCC2 ERCC1 CCNH
18 basal cell carcinoma 29.5 XRCC3 XRCC1 XPA GSTP1 GSTM1 ERCC2
19 warsaw breakage syndrome 29.5 RTEL1 ERCC2 DDX11 BRIP1
20 bladder cancer 29.4 XRCC3 XRCC1 OGG1 GSTP1 GSTM1 ERCC2
21 childhood acute lymphocytic leukemia 29.4 XRCC1 GSTP1 GSTM1
22 xeroderma pigmentosum, variant type 29.2 XRCC3 XRCC1 XPA OGG1 GTF2H5 ERCC3
23 cockayne syndrome 29.2 XPA OGG1 ERCC3 ERCC2 ERCC1 CDK7
24 xeroderma pigmentosum, complementation group g 28.4 XRCC3 XRCC1 XPA OGG1 GTF2H5 ERCC3
25 fanconi anemia, complementation group a 28.4 XRCC3 XRCC1 XPA RTEL1 GTF2H5 GSTP1
26 trichothiodystrophy 27.9 XRCC1 XPA SRSF1 RTEL1 OGG1 GTF2H5
27 cerebrooculofacioskeletal syndrome 2 11.0
28 lung cancer 10.6
29 esophageal cancer 10.4
30 squamous cell carcinoma 10.4
31 small cell cancer of the lung 10.3
32 breast cancer 10.3
33 leukemia, acute myeloid 10.3
34 acute myeloid leukemia with recurrent genetic anomaly 10.3
35 photoparoxysmal response 1 10.3
36 ovarian cancer 10.3
37 ovarian cancer 1 10.3
38 lung cancer susceptibility 1 10.3
39 head and neck cancer 10.3
40 ichthyosis 10.3
41 progressive non-infectious anterior vertebral fusion 10.3
42 squamous cell carcinoma, head and neck 10.2
43 myeloid leukemia 10.2
44 trichothiodystrophy 2, photosensitive 10.2 ERCC3 ERCC2
45 basal cell carcinoma 1 10.2
46 adenocarcinoma 10.2
47 esophagus squamous cell carcinoma 10.2
48 colorectal cancer 10.2
49 gastric cancer 10.2
50 leukemia 10.2

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



Diseases related to Xeroderma Pigmentosum, Complementation Group D

Symptoms & Phenotypes for Xeroderma Pigmentosum, Complementation Group D

Human phenotypes related to Xeroderma Pigmentosum, Complementation Group D:

30 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 corneal neovascularization 30 Occasional (7.5%) HP:0011496
2 keratoconjunctivitis sicca 30 Occasional (7.5%) HP:0001097
3 cutaneous photosensitivity 30 Very rare (1%) HP:0000992
4 intellectual disability 30 HP:0001249
5 spasticity 30 HP:0001257
6 ataxia 30 HP:0001251
7 cataract 30 HP:0000518
8 microcephaly 30 HP:0000252
9 sensorineural hearing impairment 30 HP:0000407
10 photophobia 30 HP:0000613
11 melanoma 30 HP:0002861
12 microphthalmia 30 HP:0000568
13 mental deterioration 30 HP:0001268
14 conjunctivitis 30 HP:0000509
15 keratitis 30 HP:0000491
16 hyporeflexia 30 HP:0001265
17 ectropion 30 HP:0000656
18 choreoathetosis 30 HP:0001266
19 poikiloderma 30 HP:0001029
20 telangiectasia 30 HP:0001009
21 dermal atrophy 30 HP:0004334
22 entropion 30 HP:0000621
23 defective dna repair after ultraviolet radiation damage 30 HP:0003079

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Neurologic Central Nervous System:
spasticity
ataxia
mental deterioration
hyporeflexia
choreoathetosis
more
Head And Neck Eyes:
photophobia
conjunctivitis
keratitis
ectropion
entropion
more
Laboratory Abnormalities:
defective dna repair after ultraviolet radiation damage

Neoplasia:
early onset skin cancer (basal cell, squamous cell and malignant melanoma)

Head And Neck Head:
microcephaly

Skin Nails Hair Skin:
poikiloderma
telangiectasia
skin atrophy
keratoacanthomas
skin photosensitivity
more
Head And Neck Ears:
sensorineural deafness

Clinical features from OMIM®:

278730 (Updated 24-Oct-2022)

UMLS symptoms related to Xeroderma Pigmentosum, Complementation Group D:


ataxia; muscle spasticity; photophobia

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.18 BRIP1 CCNH CDK7 CIAO1 CIAO2B DDX11
2 no effect GR00402-S-2 10.18 BRIP1 CCNH CDK7 CIAO1 CIAO2B DDX11
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.83 XRCC1 XRCC3
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.83 BRIP1 ERCC1 XRCC1 XRCC3
5 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.83 CCNH CDK7 ERCC1 ERCC2 ERCC3 GTF2H5

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10 BRIP1 DDX11 ERCC1 ERCC2 ERCC3 GSTM1
2 neoplasm MP:0002006 9.97 BRIP1 ERCC1 ERCC2 ERCC3 GSTP1 OGG1
3 growth/size/body region MP:0005378 9.93 BRIP1 CDK7 CIAO2B DDX11 ERCC1 ERCC2
4 cellular MP:0005384 9.73 BRIP1 CDK7 DDX11 ERCC1 ERCC2 ERCC3
5 mortality/aging MP:0010768 9.44 CDK7 CIAO2B DDX11 ERCC1 ERCC2 ERCC3

Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group D

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

Genetic Tests for Xeroderma Pigmentosum, Complementation Group D

Genetic tests related to Xeroderma Pigmentosum, Complementation Group D:

# Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Group D 28 ERCC2

Anatomical Context for Xeroderma Pigmentosum, Complementation Group D

Organs/tissues related to Xeroderma Pigmentosum, Complementation Group D:

MalaCards : Skin, Eye, Lung, Prostate, Breast, Myeloid, Smooth Muscle

Publications for Xeroderma Pigmentosum, Complementation Group D

Articles related to Xeroderma Pigmentosum, Complementation Group D:

(show top 50) (show all 394)
# Title Authors PMID Year
1
Mutations in the XPD gene leading to xeroderma pigmentosum symptoms. 53 62 57 5
9101292 1997
2
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. 62 57 5
11709541 2001
3
Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. 62 57 5
7849702 1994
4
Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. 53 62 5
7585650 1995
5
A novel nonsense mutation of ERCC2 in a Vietnamese family with xeroderma pigmentosum syndrome group D. 62 5
32047639 2020
6
Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis. 62 5
29169765 2018
7
Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS. 62 5
25716912 2015
8
A Drosophila XPD model links cell cycle coordination with neuro-development and suggests links to cancer. 62 5
25431422 2015
9
Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes. 62 5
23800062 2013
10
The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D). 62 5
24252196 2013
11
Selective regulation of vitamin D receptor-responsive genes by TFIIH. 62 5
15494306 2004
12
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. 62 5
9238033 1997
13
DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient. 62 5
9195225 1997
14
Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy. 62 5
8571952 1996
15
The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy. 62 57
1372108 1992
16
Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair gene. 62 57
1729695 1992
17
Molecular cloning and characterization of a mammalian excision repair gene that partially restores UV resistance to xeroderma pigmentosum complementation group D cells. 62 57
2780557 1989
18
Lack of complementation between xeroderma pigmentosum complementation groups D and H. 62 57
2921028 1989
19
No apparent neurologic defect in a patient with xeroderma pigmentosum complementation group D. 62 57
3341805 1988
20
Abnormal ultraviolet mutagenic spectrum in plasmid DNA replicated in cultured fibroblasts from a patient with the skin cancer-prone disease, xeroderma pigmentosum. 62 57
3680516 1987
21
Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity. 62 57
3770739 1986
22
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients. 5
33726816 2021
23
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 5
28492532 2017
24
Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer. 5
27504877 2016
25
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 5
27004399 2016
26
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 5
26884178 2016
27
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 5
25741868 2015
28
Differences in clinical phenotype among patients with XP complementation group D: 3D structure and ATP-docking of XPD in silico. 5
24418926 2014
29
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 5
24728327 2014
30
Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum. 5
23232694 2013
31
XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression. 5
23221806 2013
32
A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity. 5
22826098 2012
33
Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta. 5
22234153 2012
34
TFIIH: when transcription met DNA repair. 5
22572993 2012
35
Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl. 5
20633800 2010
36
Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2). 5
18637129 2009
37
Structure of the DNA repair helicase XPD. 5
18510925 2008
38
XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations. 5
18510924 2008
39
Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients. 5
12820975 2003
40
Effects of XPD mutations on ultraviolet-induced apoptosis in relation to skin cancer-proneness in repair-deficient syndromes. 5
11710928 2001
41
Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. 5
11443545 2001
42
Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity. 5
9758621 1998
43
Xeroderma pigmentosum complementation group H is withdrawn and reassigned to group D. 57
1757099 1991
44
No lack of complementation for unscheduled DNA synthesis between xeroderma pigmentosum complementation groups D and H. 57
2606486 1989
45
Structure, function and evolution of the XPD family of iron-sulfur-containing 5'-->3' DNA helicases. 53 62
19442249 2009
46
DNA repair gene XPD and XRCC1 polymorphisms and the risk of childhood acute lymphoblastic leukemia. 53 62
19101034 2009
47
MAD2 interacts with DNA repair proteins and negatively regulates DNA damage repair. 53 62
18597777 2008
48
The Gln/Gln genotype of XPD codon 751 as a genetic marker for melanoma risk and Lys/Gln as an important predictor for melanoma progression: a case control study in the Swedish population. 53 62
18575735 2008
49
Polymorphisms in XPD (Asp312Asn and Lys751Gln) genes, sunburn and arsenic-related skin lesions. 53 62
17470448 2007
50
Polymorphisms of DNA repair genes XRCC1 and XPD and risk of primary open angle glaucoma (POAG). 53 62
17242676 2007

Variations for Xeroderma Pigmentosum, Complementation Group D

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

5 (show top 50) (show all 147)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERCC2 NM_000400.4(ERCC2):c.184-1G>T SNV Pathogenic
627440 rs1568546120 GRCh37: 19:45872251-45872251
GRCh38: 19:45368993-45368993
2 ERCC2 NM_000400.4(ERCC2):c.298G>T (p.Glu100Ter) SNV Pathogenic
627441 rs964247601 GRCh37: 19:45871950-45871950
GRCh38: 19:45368692-45368692
3 ERCC2 NM_000400.4(ERCC2):c.121G>T (p.Glu41Ter) SNV Pathogenic
627442 rs1568546252 GRCh37: 19:45872390-45872390
GRCh38: 19:45369132-45369132
4 ERCC2 NM_000400.4(ERCC2):c.2176C>T (p.Gln726Ter) SNV Pathogenic
16780 rs121913017 GRCh37: 19:45855481-45855481
GRCh38: 19:45352223-45352223
5 ERCC2 NM_000400.4(ERCC2):c.1621A>C (p.Ser541Arg) SNV Pathogenic
16783 rs121913019 GRCh37: 19:45858032-45858032
GRCh38: 19:45354774-45354774
6 ERCC2 NM_000400.4(ERCC2):c.1454T>C (p.Leu485Pro) SNV Pathogenic
16791 rs121913025 GRCh37: 19:45860553-45860553
GRCh38: 19:45357295-45357295
7 ERCC2 NM_000400.4(ERCC2):c.2006_2007insA (p.Lys671fs) INSERT Pathogenic
1028729 rs1971844960 GRCh37: 19:45855803-45855804
GRCh38: 19:45352545-45352546
8 ERCC2 NM_000400.4(ERCC2):c.1759-2A>G SNV Pathogenic
1319438 GRCh37: 19:45856415-45856415
GRCh38: 19:45353157-45353157
9 ERCC2 NM_000400.4(ERCC2):c.1984C>T (p.Gln662Ter) SNV Pathogenic
1319436 GRCh37: 19:45855826-45855826
GRCh38: 19:45352568-45352568
10 ERCC2 NM_000400.4(ERCC2):c.1007dup (p.Leu337fs) DUP Pathogenic
1319444 GRCh37: 19:45867111-45867112
GRCh38: 19:45363853-45363854
11 ERCC2 NM_000400.4(ERCC2):c.949+5G>A SNV Pathogenic
1685772 GRCh37: 19:45867239-45867239
GRCh38: 19:45363981-45363981
12 ERCC2 NM_000400.4(ERCC2):c.851del (p.Glu284fs) DEL Pathogenic
1685773 GRCh37: 19:45867342-45867342
GRCh38: 19:45364084-45364084
13 ERCC2 NM_000400.4(ERCC2):c.1745_1747delinsTTTCGG (p.Glu582_Lys583delinsValSerGlu) INDEL Pathogenic
16790 GRCh37: 19:45856511-45856513
GRCh38: 19:45353253-45353255
14 ERCC2 NM_000400.4(ERCC2):c.335G>A (p.Arg112His) SNV Pathogenic
16784 rs121913020 GRCh37: 19:45871913-45871913
GRCh38: 19:45368655-45368655
15 ERCC2 NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp) SNV Pathogenic
16788 rs121913024 GRCh37: 19:45856060-45856060
GRCh38: 19:45352802-45352802
16 ERCC2 NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) SNV Pathogenic
16792 rs121913026 GRCh37: 19:45855493-45855493
GRCh38: 19:45352235-45352235
17 ERCC2 NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro) SNV Pathogenic
Pathogenic
329508 rs376556895 GRCh37: 19:45856059-45856059
GRCh38: 19:45352801-45352801
18 ERCC2 NM_000400.4(ERCC2):c.591_594del (p.Arg196_Tyr197insTer) DEL Pathogenic
1322829 GRCh37: 19:45868096-45868099
GRCh38: 19:45364838-45364841
19 ERCC2 NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp) SNV Pathogenic
Pathogenic
16793 rs41556519 GRCh37: 19:45855610-45855610
GRCh38: 19:45352352-45352352
20 ERCC2 NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln) SNV Pathogenic
264679 rs758439420 GRCh37: 19:45855609-45855609
GRCh38: 19:45352351-45352351
21 ERCC2 NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs) DEL Pathogenic/Likely Pathogenic
134095 rs587778271 GRCh37: 19:45856554-45856555
GRCh38: 19:45353296-45353297
22 ERCC2 NM_000400.4(ERCC2):c.594+2_594+5del DEL Likely Pathogenic
402226 rs762309206 GRCh37: 19:45868091-45868094
GRCh38: 19:45364833-45364836
23 ERCC2 NM_000400.4(ERCC2):c.2080C>T (p.Pro694Ser) SNV Likely Pathogenic
523368 rs764868582 GRCh37: 19:45855577-45855577
GRCh38: 19:45352319-45352319
24 ERCC2 NM_000400.4(ERCC2):c.1972C>G (p.Arg658Gly) SNV Likely Pathogenic
1329484 GRCh37: 19:45855838-45855838
GRCh38: 19:45352580-45352580
25 ERCC2 NM_000400.4(ERCC2):c.2010C>T (p.Gly670=) SNV Likely Pathogenic
1162241 GRCh37: 19:45855800-45855800
GRCh38: 19:45352542-45352542
26 ERCC2 NM_000400.4(ERCC2):c.816-2A>G SNV Likely Pathogenic
631814 rs746795177 GRCh37: 19:45867379-45867379
GRCh38: 19:45364121-45364121
27 ERCC2 NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) SNV Conflicting Interpretations Of Pathogenicity
16779 rs121913016 GRCh37: 19:45860626-45860626
GRCh38: 19:45357368-45357368
28 ERCC2 NM_000400.4(ERCC2):c.545C>T (p.Ala182Val) SNV Conflicting Interpretations Of Pathogenicity
134114 rs142936491 GRCh37: 19:45868145-45868145
GRCh38: 19:45364887-45364887
29 ERCC2 NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) SNV Conflicting Interpretations Of Pathogenicity
134102 rs144564120 GRCh37: 19:45855507-45855507
GRCh38: 19:45352249-45352249
30 ERCC2 NM_000400.4(ERCC2):c.1905G>A (p.Ala635=) SNV Conflicting Interpretations Of Pathogenicity
329507 rs145835916 GRCh37: 19:45855905-45855905
GRCh38: 19:45352647-45352647
31 ERCC2 NM_000400.4(ERCC2):c.2083C>T (p.Arg695Cys) SNV Uncertain Significance
134101 rs201392911 GRCh37: 19:45855574-45855574
GRCh38: 19:45352316-45352316
32 ERCC2 NM_000400.4(ERCC2):c.1904C>T (p.Ala635Val) SNV Uncertain Significance
134100 rs34517175 GRCh37: 19:45855906-45855906
GRCh38: 19:45352648-45352648
33 ERCC2 NM_000400.4(ERCC2):c.1891C>T (p.Arg631Cys) SNV Uncertain Significance
892655 rs144511865 GRCh37: 19:45856015-45856015
GRCh38: 19:45352757-45352757
34 ERCC2 NM_000400.4(ERCC2):c.1867G>A (p.Val623Ile) SNV Uncertain Significance
892656 rs372960848 GRCh37: 19:45856039-45856039
GRCh38: 19:45352781-45352781
35 ERCC2 NM_000400.4(ERCC2):c.1866C>T (p.Gly622=) SNV Uncertain Significance
709003 rs16979773 GRCh37: 19:45856040-45856040
GRCh38: 19:45352782-45352782
36 ERCC2 NM_000400.4(ERCC2):c.601C>T (p.His201Tyr) SNV Uncertain Significance
546846 rs1799792 GRCh37: 19:45867799-45867799
GRCh38: 19:45364541-45364541
37 ERCC2 NM_000400.4(ERCC2):c.552G>C (p.Gly184=) SNV Uncertain Significance
750391 rs769750286 GRCh37: 19:45868138-45868138
GRCh38: 19:45364880-45364880
38 ERCC2 NM_000400.4(ERCC2):c.2247G>A (p.Thr749=) SNV Uncertain Significance
893739 rs200756227 GRCh37: 19:45854923-45854923
GRCh38: 19:45351665-45351665
39 ERCC2 NM_000400.4(ERCC2):c.1725C>T (p.Ala575=) SNV Uncertain Significance
893765 rs116544270 GRCh37: 19:45856533-45856533
GRCh38: 19:45353275-45353275
40 ERCC2 NM_000400.4(ERCC2):c.1815C>T (p.Ser605=) SNV Uncertain Significance
893462 rs368708674 GRCh37: 19:45856357-45856357
GRCh38: 19:45353099-45353099
41 ERCC2 NM_000400.4(ERCC2):c.1789C>T (p.Leu597=) SNV Uncertain Significance
738297 rs138038607 GRCh37: 19:45856383-45856383
GRCh38: 19:45353125-45353125
42 ERCC2 NM_000400.4(ERCC2):c.1377+8C>T SNV Uncertain Significance
708830 rs370862494 GRCh37: 19:45860724-45860724
GRCh38: 19:45357466-45357466
43 ERCC2 NM_000400.4(ERCC2):c.348T>C (p.Cys116=) SNV Uncertain Significance
893796 rs769231981 GRCh37: 19:45871900-45871900
GRCh38: 19:45368642-45368642
44 ERCC2 NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu) SNV Uncertain Significance
329520 rs757790912 GRCh37: 19:45867247-45867247
GRCh38: 19:45363989-45363989
45 ERCC2 NM_000400.4(ERCC2):c.2190+11C>T SNV Uncertain Significance
894658 rs374737560 GRCh37: 19:45855456-45855456
GRCh38: 19:45352198-45352198
46 ERCC2 NM_000400.4(ERCC2):c.2128G>A (p.Val710Met) SNV Uncertain Significance
134104 rs141808167 GRCh37: 19:45855529-45855529
GRCh38: 19:45352271-45352271
47 ERCC2 NM_000400.4(ERCC2):c.156G>A (p.Leu52=) SNV Uncertain Significance
754097 rs202156896 GRCh37: 19:45872355-45872355
GRCh38: 19:45369097-45369097
48 ERCC2 NM_000400.4(ERCC2):c.57C>T (p.Pro19=) SNV Uncertain Significance
894711 rs369106754 GRCh37: 19:45873439-45873439
GRCh38: 19:45370181-45370181
49 ERCC2 NM_000400.4(ERCC2):c.6G>C (p.Lys2Asn) SNV Uncertain Significance
804793 rs200443634 GRCh37: 19:45873490-45873490
GRCh38: 19:45370232-45370232
50 ERCC2 NM_000400.4(ERCC2):c.2195A>G (p.Asp732Gly) SNV Uncertain Significance
1319434 GRCh37: 19:45854975-45854975
GRCh38: 19:45351717-45351717

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

73 (show all 18)
# Symbol AA change Variation ID SNP ID
1 ERCC2 p.Arg112His VAR_003622 rs121913020
2 ERCC2 p.Leu461Val VAR_003623 rs121913016
3 ERCC2 p.Ser541Arg VAR_003625 rs121913019
4 ERCC2 p.Arg616Pro VAR_003626 rs376556895
5 ERCC2 p.Gly602Asp VAR_003627 rs771824813
6 ERCC2 p.Gly47Arg VAR_008187 rs1360631927
7 ERCC2 p.Asp234Asn VAR_008188 rs1340806384
8 ERCC2 p.Tyr542Cys VAR_008191
9 ERCC2 p.Arg601Leu VAR_008192 rs140522180
10 ERCC2 p.Arg616Trp VAR_008193 rs121913024
11 ERCC2 p.Arg683Gln VAR_008197 rs758439420
12 ERCC2 p.Arg683Trp VAR_008198 rs41556519
13 ERCC2 p.Thr76Ala VAR_017282
14 ERCC2 p.Leu485Pro VAR_017283 rs121913025
15 ERCC2 p.Arg511Gln VAR_017285 rs772572683
16 ERCC2 p.Arg601Trp VAR_017289 rs753641926
17 ERCC2 p.Arg666Trp VAR_017292 rs752510317
18 ERCC2 p.Asp681Asn VAR_017293 rs121913023

Expression for Xeroderma Pigmentosum, Complementation Group D

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

Pathways for Xeroderma Pigmentosum, Complementation Group D

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.03 BRIP1 CCNH CDK7 ERCC1 ERCC2 ERCC3
2
Show member pathways
12.75 GTF2H5 ERCC3 ERCC2 CDK7 CCNH
3
Show member pathways
12.75 GTF2H5 ERCC3 ERCC2 CDK7 CCNH
4
Show member pathways
12.74 GTF2H5 ERCC3 ERCC2 CDK7 CCNH BRIP1
5
Show member pathways
12.7 CCNH CDK7 ERCC1 ERCC2 ERCC3 GTF2H5
6
Show member pathways
12.54 XRCC3 RTEL1 OGG1 ERCC1 BRIP1
7 12.45 XRCC1 XPA GSTP1 ERCC3 ERCC2 ERCC1
8
Show member pathways
12.44 XRCC1 XPA OGG1 ERCC3 ERCC2 ERCC1
9
Show member pathways
12.21 XRCC1 XPA OGG1 GTF2H5 ERCC3 ERCC2
10
Show member pathways
11.75 GTF2H5 ERCC3 ERCC2 CDK7 CCNH
11 11.51 ERCC2 ERCC3 GTF2H5 XPA
12 11.1 XPA GSTP1 GSTM1 ERCC3 ERCC2 ERCC1
13
Show member pathways
10.98 CDK7 CCNH
14 10.92 GSTP1 GSTM1
15 10.21 RTEL1 MMS19 ERCC2 CIAO2B CIAO1 BRIP1

GO Terms for Xeroderma Pigmentosum, Complementation Group D

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.7 BRIP1 CCNH CDK7 CIAO2B DDX11 ERCC1
2 nucleoplasm GO:0005654 10.57 BRIP1 CCNH CDK7 CIAO2B DDX11 ERCC1
3 chromosome, telomeric region GO:0000781 10.13 XRCC3 XRCC1 RTEL1 ERCC1
4 transcription factor TFIID complex GO:0005669 9.99 GTF2H5 ERCC3 ERCC2
5 CIA complex GO:0097361 9.8 MMS19 CIAO2B CIAO1
6 ERCC4-ERCC1 complex GO:0070522 9.78 XRCC1 ERCC1
7 nucleotide-excision repair factor 1 complex GO:0000110 9.76 ERCC1 XPA
8 MMXD complex GO:0071817 9.76 CIAO1 CIAO2B ERCC2 MMS19
9 cyclin-dependent protein kinase activating kinase holoenzyme complex GO:0019907 9.73 CCNH CDK7
10 CAK-ERCC2 complex GO:0070516 9.73 ERCC2 CDK7 CCNH
11 transcription factor TFIIK complex GO:0070985 9.71 CCNH CDK7
12 transcription factor TFIIH core complex GO:0000439 9.65 GTF2H5 ERCC3 ERCC2 CDK7 CCNH
13 transcription factor TFIIH holo complex GO:0005675 9.4 MMS19 GTF2H5 ERCC3 ERCC2 CDK7 CCNH

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 10.3 CCNH CDK7 ERCC2 ERCC3 GTF2H5
2 response to oxidative stress GO:0006979 10.22 OGG1 ERCC3 ERCC2 ERCC1
3 chromosome segregation GO:0007059 10.16 CIAO1 CIAO2B ERCC2 MMS19
4 transcription initiation at RNA polymerase II promoter GO:0006367 10.13 GTF2H5 ERCC3 CDK7 CCNH
5 iron-sulfur cluster assembly GO:0016226 10.07 MMS19 CIAO2B CIAO1
6 base-excision repair GO:0006284 10.06 XRCC1 XPA OGG1
7 DNA duplex unwinding GO:0032508 10.06 RTEL1 ERCC3 ERCC2 DDX11 BRIP1
8 UV protection GO:0009650 10.01 ERCC1 ERCC2 ERCC3 XPA
9 nucleotide-excision repair GO:0006289 10 BRIP1 ERCC1 ERCC2 ERCC3 GTF2H5 MMS19
10 protein maturation by iron-sulfur cluster transfer GO:0097428 9.99 CIAO1 CIAO2B MMS19
11 DNA recombination GO:0006310 9.95 XRCC3 RTEL1 ERCC1
12 t-circle formation GO:0090656 9.95 XRCC3 ERCC1
13 phosphorylation of RNA polymerase II C-terminal domain GO:0070816 9.95 GTF2H5 CDK7 CCNH
14 UV-damage excision repair GO:0070914 9.94 XPA ERCC1
15 regulation of mitotic cell cycle phase transition GO:1901990 9.94 ERCC3 ERCC2
16 hepoxilin biosynthetic process GO:0051122 9.93 GSTP1 GSTM1
17 transcription-coupled nucleotide-excision repair GO:0006283 9.93 ERCC3 ERCC2
18 hair cell differentiation GO:0035315 9.92 ERCC2 ERCC3
19 glutathione derivative biosynthetic process GO:1901687 9.91 GSTP1 GSTM1
20 transcription elongation by RNA polymerase I GO:0006362 9.91 GTF2H5 ERCC2
21 cellular response to DNA damage stimulus GO:0006974 9.89 BRIP1 CDK7 DDX11 ERCC1 ERCC2 ERCC3
22 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.88 XRCC1 ERCC1
23 telomeric DNA-containing double minutes formation GO:0061819 9.87 XRCC1 ERCC1
24 DNA metabolic process GO:0006259 9.87 XRCC3 RTEL1 MMS19 ERCC2 DDX11 BRIP1
25 telomeric loop disassembly GO:0090657 9.85 XRCC3 RTEL1
26 nucleobase-containing compound metabolic process GO:0006139 9.8 RTEL1 ERCC2 DDX11 BRIP1
27 cellular component organization GO:0016043 9.73 RTEL1 ERCC2 DDX11 BRIP1
28 nucleotide-excision repair, DNA incision GO:0033683 9.73 XPA OGG1 ERCC3 ERCC2
29 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.71 ERCC3 ERCC2
30 nucleic acid metabolic process GO:0090304 9.67 RTEL1 ERCC2 DDX11 BRIP1
31 DNA repair GO:0006281 9.66 XRCC3 XRCC1 XPA RTEL1 OGG1 MMS19

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.34 BRIP1 DDX11 ERCC1 ERCC2 ERCC3 OGG1
2 ATP hydrolysis activity GO:0016887 10.18 RTEL1 ERCC3 ERCC2 DDX11 BRIP1
3 protein C-terminus binding GO:0008022 10.11 ERCC3 ERCC2 ERCC1 CDK7
4 nucleotide binding GO:0000166 10.07 XRCC3 RTEL1 ERCC3 ERCC2 DDX11 CDK7
5 4 iron, 4 sulfur cluster binding GO:0051539 10.01 RTEL1 ERCC2 DDX11 BRIP1
6 nucleic acid binding GO:0003676 9.98 BRIP1 DDX11 ERCC2 RTEL1 SRSF1 XPA
7 DNA helicase activity GO:0003678 9.81 RTEL1 ERCC3 ERCC2 DDX11 BRIP1
8 5'-3' DNA helicase activity GO:0043139 9.8 ERCC2 DDX11 BRIP1
9 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.76 XRCC1 ERCC1
10 helicase activity GO:0004386 9.73 BRIP1 DDX11 ERCC2 ERCC3 RTEL1
11 damaged DNA binding GO:0003684 9.7 XRCC1 XPA OGG1 ERCC3 ERCC2 ERCC1
12 iron-sulfur cluster binding GO:0051536 9.67 RTEL1 ERCC2 DDX11 BRIP1
13 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 8.92 RTEL1 ERCC2 DDX11 BRIP1

Sources for Xeroderma Pigmentosum, Complementation Group D

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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