PLEKHA4 pleckstrin homology domain containing A4
Information
- Symbol
- PLEKHA4
- Type
- protein-coding
- Description
- pleckstrin homology domain containing A4
- Entrez Gene ID
- 57664
- Genome
- hg19
- Position
- chr19:49,340,354-49,371,874
- Genome
- hg38
- Position
- chr19:48,837,097-48,868,617
- MIM
- 607769 OMIM
- HGNC
- HGNC:14339 HGNC
- Ensembl
- ENSG00000105559 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 8 |
Uncertain significance | 0 | 122 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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128 |
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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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | PEPP1 |
MIM | 607769 OMIM |
HGNC | HGNC:14339 HGNC |
Ensembl | ENSG00000105559 Ensembl |
AllianceGenome | HGNC:14339 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000263265.11 | hg38 | chr19 | 48,837,097 | 48,868,617 | 31,521 |
ENST00000594100.2 | hg38 | chr19 | 48,837,092 | 48,868,569 | 31,478 |
ENST00000355496.9 | hg38 | chr19 | 48,837,097 | 48,868,454 | 31,358 |
ENST00000594100.2 | hg19 | chr19 | 49,340,349 | 49,371,826 | 31,478 |
ENST00000355496.9 | hg19 | chr19 | 49,340,354 | 49,371,711 | 31,358 |
ENST00000263265.11 | hg19 | chr19 | 49,340,354 | 49,371,874 | 31,521 |
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