PTOV1 PTOV1 extended AT-hook containing adaptor protein
Information
- Symbol
- PTOV1
- Type
- protein-coding
- Description
- PTOV1 extended AT-hook containing adaptor protein
- Entrez Gene ID
- 53635
- Genome
- hg19
- Position
- chr19:50,354,416-50,363,999
- Genome
- hg38
- Position
- chr19:49,851,159-49,860,742
- MIM
- 610195 OMIM
- HGNC
- HGNC:9632 HGNC
- Ensembl
- ENSG00000104960 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 4 |
Uncertain significance | 0 | 76 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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78 |
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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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Category | : |
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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 | ACID2 |
SYNONYM | PTOV-1 |
MIM | 610195 OMIM |
HGNC | HGNC:9632 HGNC |
Ensembl | ENSG00000104960 Ensembl |
AllianceGenome | HGNC:9632 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000599732.5 | hg38 | chr19 | 49,851,191 | 49,860,744 | 9,554 |
ENST00000601638.5 | hg38 | chr19 | 49,850,828 | 49,860,713 | 9,886 |
ENST00000600603.5 | hg38 | chr19 | 49,850,754 | 49,860,739 | 9,986 |
ENST00000391842.6 | hg38 | chr19 | 49,851,159 | 49,860,742 | 9,584 |
ENST00000601675.5 | hg38 | chr19 | 49,851,225 | 49,860,740 | 9,516 |
ENST00000391842.6 | hg19 | chr19 | 50,354,416 | 50,363,999 | 9,584 |
ENST00000599732.5 | hg19 | chr19 | 50,354,448 | 50,364,001 | 9,554 |
ENST00000600603.5 | hg19 | chr19 | 50,354,011 | 50,363,996 | 9,986 |
ENST00000601638.5 | hg19 | chr19 | 50,354,085 | 50,363,970 | 9,886 |
ENST00000601675.5 | hg19 | chr19 | 50,354,482 | 50,363,997 | 9,516 |
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