ELP5 elongator acetyltransferase complex subunit 5
Information
- Symbol
- ELP5
- Type
- protein-coding
- Description
- elongator acetyltransferase complex subunit 5
- Entrez Gene ID
- 23587
- Genome
- hg19
- Position
- chr17:7,155,120-7,163,216
- Genome
- hg38
- Position
- chr17:7,251,801-7,259,897
- MIM
- 615019 OMIM
- HGNC
- HGNC:30617 HGNC
- Ensembl
- ENSG00000170291 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 6 |
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 46 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
56 |
 |
0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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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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| 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 | C17orf81 |
| SYNONYM | DERP6 |
| SYNONYM | HSPC002 |
| SYNONYM | MST071 |
| SYNONYM | MSTP071 |
| MIM | 615019 OMIM |
| HGNC | HGNC:30617 HGNC |
| Ensembl | ENSG00000170291 Ensembl |
| AllianceGenome | HGNC:30617 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000356683.7 | hg38 | chr17 | 7,251,739 | 7,259,931 | 8,193 |
| ENST00000574993.6 | hg38 | chr17 | 7,252,286 | 7,259,940 | 7,655 |
| ENST00000570322.6 | hg38 | chr17 | 7,252,525 | 7,259,940 | 7,416 |
| ENST00000396628.7 | hg38 | chr17 | 7,252,215 | 7,259,937 | 7,723 |
| ENST00000396627.7 | hg38 | chr17 | 7,252,232 | 7,259,940 | 7,709 |
| ENST00000573657.6 | hg38 | chr17 | 7,252,376 | 7,254,906 | 2,531 |
| ENST00000354429.7 | hg38 | chr17 | 7,251,801 | 7,259,897 | 8,097 |
| ENST00000574255.6 | hg38 | chr17 | 7,252,056 | 7,254,913 | 2,858 |
| ENST00000356683.7 | hg19 | chr17 | 7,155,058 | 7,163,250 | 8,193 |
| ENST00000354429.7 | hg19 | chr17 | 7,155,120 | 7,163,216 | 8,097 |
| ENST00000574255.6 | hg19 | chr17 | 7,155,375 | 7,158,232 | 2,858 |
| ENST00000396628.7 | hg19 | chr17 | 7,155,534 | 7,163,256 | 7,723 |
| ENST00000396627.7 | hg19 | chr17 | 7,155,551 | 7,163,259 | 7,709 |
| ENST00000574993.6 | hg19 | chr17 | 7,155,605 | 7,163,259 | 7,655 |
| ENST00000573657.6 | hg19 | chr17 | 7,155,695 | 7,158,225 | 2,531 |
| ENST00000570322.6 | hg19 | chr17 | 7,155,844 | 7,163,259 | 7,416 |
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