PLEKHA5 pleckstrin homology domain containing A5
Information
- Symbol
- PLEKHA5
- Type
- protein-coding
- Description
- pleckstrin homology domain containing A5
- Entrez Gene ID
- 54477
- Genome
- hg19
- Position
- chr12:19,282,667-19,529,334
- Genome
- hg38
- Position
- chr12:19,129,733-19,376,400
- MIM
- 607770 OMIM
- HGNC
- HGNC:30036 HGNC
- Ensembl
- ENSG00000052126 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely pathogenic | 0 | 2 |
| Benign | 0 | 16 |
| Likely benign | 0 | 38 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 102 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
6 |
 |
140 |
 |
10 |
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 | : |
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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 | PEPP-2 |
| SYNONYM | PEPP2 |
| MIM | 607770 OMIM |
| HGNC | HGNC:30036 HGNC |
| Ensembl | ENSG00000052126 Ensembl |
| AllianceGenome | HGNC:30036 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000700682.1 | hg38 | chr12 | 19,129,800 | 19,201,787 | 71,988 |
| ENST00000700688.1 | hg38 | chr12 | 19,234,656 | 19,376,382 | 141,727 |
| ENST00000299275.10 | hg38 | chr12 | 19,129,794 | 19,376,400 | 246,607 |
| ENST00000540972.5 | hg38 | chr12 | 19,129,752 | 19,202,003 | 72,252 |
| ENST00000538714.5 | hg38 | chr12 | 19,129,796 | 19,373,668 | 243,873 |
| ENST00000429027.7 | hg38 | chr12 | 19,129,733 | 19,376,400 | 246,668 |
| ENST00000424268.5 | hg38 | chr12 | 19,205,325 | 19,376,397 | 171,073 |
| ENST00000424268.5 | hg19 | chr12 | 19,358,259 | 19,529,331 | 171,073 |
| ENST00000700688.1 | hg19 | chr12 | 19,387,590 | 19,529,316 | 141,727 |
| ENST00000429027.7 | hg19 | chr12 | 19,282,667 | 19,529,334 | 246,668 |
| ENST00000540972.5 | hg19 | chr12 | 19,282,686 | 19,354,937 | 72,252 |
| ENST00000299275.10 | hg19 | chr12 | 19,282,728 | 19,529,334 | 246,607 |
| ENST00000538714.5 | hg19 | chr12 | 19,282,730 | 19,526,602 | 243,873 |
| ENST00000700682.1 | hg19 | chr12 | 19,282,734 | 19,354,721 | 71,988 |
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