AP1S2 adaptor related protein complex 1 subunit sigma 2
Information
- Symbol
- AP1S2
- Type
- protein-coding
- Description
- adaptor related protein complex 1 subunit sigma 2
- Entrez Gene ID
- 8905
- Genome
- hg19
- Position
- chrX:15,848,182-15,872,927
- Genome
- hg38
- Position
- chrX:15,830,059-15,854,804
- MIM
- 300629 OMIM
- HGNC
- HGNC:560 HGNC
- Ensembl
- ENSG00000182287 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 34 |
| Likely pathogenic | 0 | 10 |
| Benign | 0 | 26 |
| Likely benign | 0 | 34 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| not provided | 10 | 0 |
| Uncertain significance | 0 | 28 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
10 |
 |
106 |
 |
8 |
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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| Search word | : | |
| Filtering | : |
| 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 | : |
|
| 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 | DC22 |
| SYNONYM | MRX59 |
| SYNONYM | MRXS21 |
| SYNONYM | MRXS5 |
| SYNONYM | MRXSF |
| SYNONYM | PGS |
| SYNONYM | SIGMA1B |
| MIM | 300629 OMIM |
| HGNC | HGNC:560 HGNC |
| Ensembl | ENSG00000182287 Ensembl |
| AllianceGenome | HGNC:560 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000545766.7 | hg38 | chrX | 15,827,029 | 15,854,791 | 27,763 |
| ENST00000380291.5 | hg38 | chrX | 15,830,059 | 15,854,804 | 24,746 |
| ENST00000329235.6 | hg38 | chrX | 15,825,806 | 15,854,931 | 29,126 |
| ENST00000450644.2 | hg38 | chrX | 15,830,138 | 15,854,755 | 24,618 |
| ENST00000672987.1 | hg38 | chrX | 15,825,806 | 15,854,813 | 29,008 |
| ENST00000672987.1 | hg19 | chrX | 15,843,929 | 15,872,936 | 29,008 |
| ENST00000329235.6 | hg19 | chrX | 15,843,929 | 15,873,054 | 29,126 |
| ENST00000545766.7 | hg19 | chrX | 15,845,152 | 15,872,914 | 27,763 |
| ENST00000380291.5 | hg19 | chrX | 15,848,182 | 15,872,927 | 24,746 |
| ENST00000450644.2 | hg19 | chrX | 15,848,261 | 15,872,878 | 24,618 |
| Key | Value |
|---|---|
| strand | - |
| start | 15,843,928 |
| Gene Symbol | AP1S2 |
| Entrez GeneId | 8,905 |
| Chr Band | Xp22.2 |
| end | 15,873,136 |
| chr | chrX |
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