GPRASP3 G protein-coupled receptor associated sorting protein family member 3
Information
- Symbol
- GPRASP3
- Type
- protein-coding
- Description
- G protein-coupled receptor associated sorting protein family member 3
- Entrez Gene ID
- 80823
- Genome
- hg19
- Position
- chrX:101,975,671-102,008,468
- Genome
- hg38
- Position
- chrX:102,720,743-102,753,540
- MIM
- 300921 OMIM
- HGNC
- HGNC:29353 HGNC
- Ensembl
- ENSG00000198908 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 6 |
| Likely benign | 0 | 10 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| not provided | 7 | 0 |
| Uncertain significance | 0 | 44 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
60 |
 |
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
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
|
| Category | : |
|
| 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 | BHLHB9 |
| SYNONYM | GASP3 |
| SYNONYM | p60TRP |
| MIM | 300921 OMIM |
| HGNC | HGNC:29353 HGNC |
| Ensembl | ENSG00000198908 Ensembl |
| AllianceGenome | HGNC:29353 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000448867.1 | hg38 | chrX | 102,745,979 | 102,752,438 | 6,460 |
| ENST00000457056.6 | hg38 | chrX | 102,720,743 | 102,753,540 | 32,798 |
| ENST00000372735.1 | hg38 | chrX | 102,746,094 | 102,753,540 | 7,447 |
| ENST00000361229.8 | hg38 | chrX | 102,720,726 | 102,752,441 | 31,716 |
| ENST00000447531.5 | hg38 | chrX | 102,745,979 | 102,752,438 | 6,460 |
| ENST00000361229.8 | hg19 | chrX | 101,975,654 | 102,007,369 | 31,716 |
| ENST00000457056.6 | hg19 | chrX | 101,975,671 | 102,008,468 | 32,798 |
| ENST00000447531.5 | hg19 | chrX | 102,000,907 | 102,007,366 | 6,460 |
| ENST00000448867.1 | hg19 | chrX | 102,000,907 | 102,007,366 | 6,460 |
| ENST00000372735.1 | hg19 | chrX | 102,001,022 | 102,008,468 | 7,447 |
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