ERCC5 ERCC excision repair 5, endonuclease
Information
- Symbol
- ERCC5
- Type
- protein-coding
- Description
- ERCC excision repair 5, endonuclease
- Entrez Gene ID
- 2073
- Genome
- hg19
- Position
- chr13:103,498,382-103,528,345
- Genome
- hg38
- Position
- chr13:102,846,032-102,875,995
- MIM
- 133530 OMIM
- HGNC
- HGNC:3437 HGNC
- Ensembl
- ENSG00000134899 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 1 | 46 |
| Likely pathogenic | 1 | 48 |
| Benign | 0 | 128 |
| Likely benign | 0 | 196 |
| Conflicting classifications of pathogenicity | 0 | 82 |
| not provided | 11 | 20 |
| Uncertain significance | 28 | 316 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
176 |
 |
486 |
 |
32 |
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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| 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
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| Category | : |
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| 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 | COFS3 |
| SYNONYM | ERCC5-201 |
| SYNONYM | ERCM2 |
| SYNONYM | UVDR |
| SYNONYM | XPG |
| SYNONYM | XPGC |
| MIM | 133530 OMIM |
| HGNC | HGNC:3437 HGNC |
| Ensembl | ENSG00000134899 Ensembl |
| AllianceGenome | HGNC:3437 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000652225.2 | hg38 | chr13 | 102,846,032 | 102,875,995 | 29,964 |
| ENST00000652613.1 | hg38 | chr13 | 102,845,867 | 102,875,973 | 30,107 |
| ENST00000652225.2 | hg19 | chr13 | 103,498,382 | 103,528,345 | 29,964 |
| ENST00000652613.1 | hg19 | chr13 | 103,498,217 | 103,528,323 | 30,107 |
| Key | Value |
|---|---|
| strand | + |
| start | 103,498,190 |
| Gene Symbol | ERCC5 |
| Entrez GeneId | 2,073 |
| Chr Band | 13q33 |
| end | 103,528,350 |
| chr | chr13 |
| Name | excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome)) |
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