ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit
Information
- Symbol
- ERCC2
- Type
- protein-coding
- Description
- ERCC excision repair 2, TFIIH core complex helicase subunit
- Entrez Gene ID
- 2068
- Genome
- hg19
- Position
- chr19:45,853,095-45,873,831
- Genome
- hg38
- Position
- chr19:45,349,837-45,370,573
- MIM
- 126340 OMIM
- HGNC
- HGNC:3434 HGNC
- Ensembl
- ENSG00000104884 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 9 | 218 |
| Likely pathogenic | 1 | 204 |
| Benign | 1 | 138 |
| Likely benign | 0 | 1,826 |
| Conflicting classifications of pathogenicity | 0 | 138 |
| not provided | 46 | 16 |
| Uncertain significance | 20 | 1,650 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
872 |
 |
3,032 |
 |
24 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Filtering | : |
| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | COFS2 |
| SYNONYM | EM9 |
| SYNONYM | TFIIH |
| SYNONYM | TTD |
| SYNONYM | TTD1 |
| SYNONYM | XPD |
| MIM | 126340 OMIM |
| HGNC | HGNC:3434 HGNC |
| Ensembl | ENSG00000104884 Ensembl |
| AllianceGenome | HGNC:3434 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000684407.1 | hg38 | chr19 | 45,349,847 | 45,370,588 | 20,742 |
| ENST00000391944.8 | hg38 | chr19 | 45,351,594 | 45,370,588 | 18,995 |
| ENST00000485403.6 | hg38 | chr19 | 45,358,759 | 45,370,384 | 11,626 |
| ENST00000391945.10 | hg38 | chr19 | 45,349,837 | 45,370,573 | 20,737 |
| ENST00000391944.8 | hg19 | chr19 | 45,854,852 | 45,873,846 | 18,995 |
| ENST00000391945.10 | hg19 | chr19 | 45,853,095 | 45,873,831 | 20,737 |
| ENST00000485403.6 | hg19 | chr19 | 45,862,017 | 45,873,642 | 11,626 |
| ENST00000684407.1 | hg19 | chr19 | 45,853,105 | 45,873,846 | 20,742 |
| Key | Value |
|---|---|
| strand | - |
| start | 45,854,648 |
| Gene Symbol | ERCC2 |
| Entrez GeneId | 2,068 |
| Chr Band | 19q13.2-q13.3 |
| end | 45,873,844 |
| chr | chr19 |
| Name | excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D) |
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