RABEP1 rabaptin, RAB GTPase binding effector protein 1
Information
- Symbol
- RABEP1
- Type
- protein-coding
- Description
- rabaptin, RAB GTPase binding effector protein 1
- Entrez Gene ID
- 9135
- Genome
- hg19
- Position
- chr17:5,185,579-5,289,660
- Genome
- hg38
- Position
- chr17:5,282,284-5,386,340
- MIM
- 603616 OMIM
- HGNC
- HGNC:17677 HGNC
- Ensembl
- ENSG00000029725 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 6 |
| Likely benign | 0 | 6 |
| Uncertain significance | 0 | 66 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
2 |
 |
74 |
 |
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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| 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 | RAB5EP |
| SYNONYM | RABPT5 |
| MIM | 603616 OMIM |
| HGNC | HGNC:17677 HGNC |
| Ensembl | ENSG00000029725 Ensembl |
| AllianceGenome | HGNC:17677 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000341923.10 | hg38 | chr17 | 5,282,487 | 5,383,223 | 100,737 |
| ENST00000537505.6 | hg38 | chr17 | 5,282,284 | 5,386,340 | 104,057 |
| ENST00000537505.6 | hg19 | chr17 | 5,185,579 | 5,289,660 | 104,082 |
| ENST00000341923.10 | hg19 | chr17 | 5,185,782 | 5,286,518 | 100,737 |
| Key | Value |
|---|---|
| strand | + |
| start | 5,185,557 |
| Gene Symbol | RABEP1 |
| Entrez GeneId | 9,135 |
| Chr Band | 17p13.2 |
| end | 5,289,658 |
| chr | chr17 |
| Name | rabaptin, RAB GTPase binding effector protein 1 |
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