ERCC4 ERCC excision repair 4, endonuclease catalytic subunit
Information
- Symbol
- ERCC4
- Type
- protein-coding
- Description
- ERCC excision repair 4, endonuclease catalytic subunit
- Entrez Gene ID
- 2072
- Genome
- hg19
- Position
- chr16:14,014,011-14,046,205
- Genome
- hg38
- Position
- chr16:13,920,154-13,952,348
- MIM
- 133520 OMIM
- HGNC
- HGNC:3436 HGNC
- Ensembl
- ENSG00000175595 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 6 | 60 |
| Likely pathogenic | 0 | 36 |
| Benign | 0 | 128 |
| Likely benign | 0 | 446 |
| Conflicting classifications of pathogenicity | 0 | 78 |
| not provided | 11 | 16 |
| Uncertain significance | 18 | 898 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
258 |
 |
1,256 |
 |
18 |
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 | : |
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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 | ERCC11 |
| SYNONYM | FANCQ |
| SYNONYM | RAD1 |
| SYNONYM | XFEPS |
| SYNONYM | XPF |
| MIM | 133520 OMIM |
| HGNC | HGNC:3436 HGNC |
| Ensembl | ENSG00000175595 Ensembl |
| AllianceGenome | HGNC:3436 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000575156.5 | hg38 | chr16 | 13,920,157 | 13,933,247 | 13,091 |
| ENST00000682617.1 | hg38 | chr16 | 13,920,138 | 13,952,348 | 32,211 |
| ENST00000311895.8 | hg38 | chr16 | 13,920,154 | 13,952,348 | 32,195 |
| ENST00000682617.1 | hg19 | chr16 | 14,013,995 | 14,046,205 | 32,211 |
| ENST00000311895.8 | hg19 | chr16 | 14,014,011 | 14,046,205 | 32,195 |
| ENST00000575156.5 | hg19 | chr16 | 14,014,014 | 14,027,104 | 13,091 |
| Key | Value |
|---|---|
| strand | + |
| start | 14,014,013 |
| Gene Symbol | ERCC4 |
| Entrez GeneId | 2,072 |
| Chr Band | 16p13.3-p13.13 |
| end | 14,046,204 |
| chr | chr16 |
| Name | excision repair cross-complementing rodent repair deficiency, complementation group 4 |
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