AP1G1 adaptor related protein complex 1 subunit gamma 1
Information
- Symbol
- AP1G1
- Type
- protein-coding
- Description
- adaptor related protein complex 1 subunit gamma 1
- Entrez Gene ID
- 164
- Genome
- hg19
- Position
- chr16:71,766,288-71,843,104
- Genome
- hg38
- Position
- chr16:71,732,385-71,809,201
- MIM
- 603533 OMIM
- HGNC
- HGNC:555 HGNC
- Ensembl
- ENSG00000166747 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 12 |
Likely pathogenic | 0 | 8 |
Benign | 0 | 2 |
Likely benign | 0 | 38 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 54 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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108 |
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6 |
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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Filtering | : |
Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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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 | ADTG |
SYNONYM | CLAPG1 |
SYNONYM | USRISD |
MIM | 603533 OMIM |
HGNC | HGNC:555 HGNC |
Ensembl | ENSG00000166747 Ensembl |
AllianceGenome | HGNC:555 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000299980.9 | hg38 | chr16 | 71,729,000 | 71,808,834 | 79,835 |
ENST00000393512.7 | hg38 | chr16 | 71,732,385 | 71,809,201 | 76,817 |
ENST00000564155.5 | hg38 | chr16 | 71,731,883 | 71,747,396 | 15,514 |
ENST00000569748.5 | hg38 | chr16 | 71,731,883 | 71,809,103 | 77,221 |
ENST00000299980.9 | hg19 | chr16 | 71,762,903 | 71,842,737 | 79,835 |
ENST00000564155.5 | hg19 | chr16 | 71,765,786 | 71,781,299 | 15,514 |
ENST00000393512.7 | hg19 | chr16 | 71,766,288 | 71,843,104 | 76,817 |
ENST00000569748.5 | hg19 | chr16 | 71,765,786 | 71,843,006 | 77,221 |
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