EI24 EI24 autophagy associated transmembrane protein
Information
- Symbol
- EI24
- Type
- protein-coding
- Description
- EI24 autophagy associated transmembrane protein
- Entrez Gene ID
- 9538
- Genome
- hg19
- Position
- chr11:125,439,373-125,454,579
- Genome
- hg38
- Position
- chr11:125,569,477-125,584,684
- MIM
- 605170 OMIM
- HGNC
- HGNC:13276 HGNC
- Ensembl
- ENSG00000149547 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely pathogenic | 0 | 2 |
| Uncertain significance | 0 | 14 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
14 |
 |
2 |
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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| 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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| 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 | EPG4 |
| SYNONYM | PIG8 |
| SYNONYM | TP53I8 |
| MIM | 605170 OMIM |
| HGNC | HGNC:13276 HGNC |
| Ensembl | ENSG00000149547 Ensembl |
| AllianceGenome | HGNC:13276 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000620753.4 | hg38 | chr11 | 125,569,458 | 125,584,251 | 14,794 |
| ENST00000534546.5 | hg38 | chr11 | 125,569,458 | 125,584,060 | 14,603 |
| ENST00000618552.4 | hg38 | chr11 | 125,569,458 | 125,584,209 | 14,752 |
| ENST00000615917.4 | hg38 | chr11 | 125,569,458 | 125,584,027 | 14,570 |
| ENST00000527235.6 | hg38 | chr11 | 125,569,489 | 125,584,242 | 14,754 |
| ENST00000278903.11 | hg38 | chr11 | 125,569,477 | 125,584,684 | 15,208 |
| ENST00000615917.4 | hg19 | chr11 | 125,439,354 | 125,453,922 | 14,569 |
| ENST00000534546.5 | hg19 | chr11 | 125,439,354 | 125,453,955 | 14,602 |
| ENST00000618552.4 | hg19 | chr11 | 125,439,354 | 125,454,104 | 14,751 |
| ENST00000620753.4 | hg19 | chr11 | 125,439,354 | 125,454,146 | 14,793 |
| ENST00000278903.11 | hg19 | chr11 | 125,439,373 | 125,454,579 | 15,207 |
| ENST00000527235.6 | hg19 | chr11 | 125,439,385 | 125,454,137 | 14,753 |
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