AP1S1 adaptor related protein complex 1 subunit sigma 1
Information
- Symbol
- AP1S1
- Type
- protein-coding
- Description
- adaptor related protein complex 1 subunit sigma 1
- Entrez Gene ID
- 1174
- Genome
- hg19
- Position
- chr7:100,797,757-100,804,557
- Genome
- hg38
- Position
- chr7:101,154,476-101,161,276
- MIM
- 603531 OMIM
- HGNC
- HGNC:559 HGNC
- Ensembl
- ENSG00000106367 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 12 |
| Likely pathogenic | 0 | 10 |
| Benign | 0 | 40 |
| Likely benign | 0 | 180 |
| Conflicting classifications of pathogenicity | 0 | 4 |
| Uncertain significance | 0 | 20 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
22 |
 |
232 |
 |
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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| 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 | AP19 |
| SYNONYM | CLAPS1 |
| SYNONYM | EKV3 |
| SYNONYM | MEDNIK |
| SYNONYM | SIGMA1A |
| MIM | 603531 OMIM |
| HGNC | HGNC:559 HGNC |
| Ensembl | ENSG00000106367 Ensembl |
| AllianceGenome | HGNC:559 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000646560.1 | hg38 | chr7 | 101,154,985 | 101,160,827 | 5,843 |
| ENST00000337619.11 | hg38 | chr7 | 101,154,476 | 101,161,276 | 6,801 |
| ENST00000337619.11 | hg19 | chr7 | 100,797,757 | 100,804,557 | 6,801 |
| ENST00000646560.1 | hg19 | chr7 | 100,798,266 | 100,804,108 | 5,843 |
| Key | Value |
|---|---|
| strand | + |
| start | 100,797,685 |
| Gene Symbol | AP1S1 |
| Entrez GeneId | 1,174 |
| Chr Band | 7q22.1 |
| end | 100,804,556 |
| chr | chr7 |
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