SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2
Information
- Symbol
- SH3GL1
- Type
- protein-coding
- Description
- SH3 domain containing GRB2 like 1, endophilin A2
- Entrez Gene ID
- 6455
- Genome
- hg19
- Position
- chr19:4,360,367-4,400,544
- Genome
- hg38
- Position
- chr19:4,360,370-4,400,547
- MIM
- 601768 OMIM
- HGNC
- HGNC:10830 HGNC
- Ensembl
- ENSG00000141985 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 18 |
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 46 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
2 |
 |
66 |
 |
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 | CNSA1 |
| SYNONYM | EEN |
| SYNONYM | SH3D2B |
| SYNONYM | SH3P8 |
| MIM | 601768 OMIM |
| HGNC | HGNC:10830 HGNC |
| Ensembl | ENSG00000141985 Ensembl |
| AllianceGenome | HGNC:10830 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000269886.7 | hg38 | chr19 | 4,360,370 | 4,400,547 | 40,178 |
| ENST00000417295.6 | hg38 | chr19 | 4,361,316 | 4,400,525 | 39,210 |
| ENST00000598564.5 | hg38 | chr19 | 4,360,371 | 4,400,418 | 40,048 |
| ENST00000269886.7 | hg19 | chr19 | 4,360,367 | 4,400,544 | 40,178 |
| ENST00000598564.5 | hg19 | chr19 | 4,360,368 | 4,400,415 | 40,048 |
| ENST00000417295.6 | hg19 | chr19 | 4,361,313 | 4,400,522 | 39,210 |
| Key | Value |
|---|---|
| strand | - |
| UniProt | OG |
| start | 4,360,363 |
| Gene Symbol | SH3GL1 |
| Entrez GeneId | 6,455 |
| Chr Band | 19p13.3 |
| end | 4,400,564 |
| chr | chr19 |
| Name | SH3-domain GRB2-like 1 (EEN) |
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