SHANK1 SH3 and multiple ankyrin repeat domains 1
Information
- Symbol
- SHANK1
- Type
- protein-coding
- Description
- SH3 and multiple ankyrin repeat domains 1
- Entrez Gene ID
- 50944
- Genome
- hg19
- Position
- chr19:51,162,512-51,223,059
- Genome
- hg38
- Position
- chr19:50,659,255-50,719,802
- MIM
- 604999 OMIM
- HGNC
- HGNC:15474 HGNC
- Ensembl
- ENSG00000161681 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 12 |
| Likely pathogenic | 0 | 6 |
| Benign | 0 | 66 |
| Likely benign | 0 | 172 |
| Conflicting classifications of pathogenicity | 0 | 4 |
| Uncertain significance | 0 | 380 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
32 |
 |
594 |
 |
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 | SPANK-1 |
| SYNONYM | SSTRIP |
| SYNONYM | synamon |
| MIM | 604999 OMIM |
| HGNC | HGNC:15474 HGNC |
| Ensembl | ENSG00000161681 Ensembl |
| AllianceGenome | HGNC:15474 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000391814.5 | hg38 | chr19 | 50,661,941 | 50,719,450 | 57,510 |
| ENST00000359082.3 | hg38 | chr19 | 50,661,965 | 50,716,919 | 54,955 |
| ENST00000293441.6 | hg38 | chr19 | 50,659,255 | 50,719,802 | 60,548 |
| ENST00000293441.6 | hg19 | chr19 | 51,162,512 | 51,223,059 | 60,548 |
| ENST00000391814.5 | hg19 | chr19 | 51,165,198 | 51,222,707 | 57,510 |
| ENST00000359082.3 | hg19 | chr19 | 51,165,222 | 51,220,176 | 54,955 |
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