CPNE8 copine 8
Information
- Symbol
- CPNE8
- Type
- protein-coding
- Description
- copine 8
- Entrez Gene ID
- 144402
- Genome
- hg19
- Position
- chr12:39,046,005-39,299,393
- Genome
- hg38
- Position
- chr12:38,652,203-38,905,591
- HGNC
- HGNC:23498 HGNC
- Ensembl
- ENSG00000139117 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 18 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
20 |
 |
0 |
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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| 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
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| 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 | |||||||||||||||
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000331366.10 | hg38 | chr12 | 38,652,203 | 38,905,591 | 253,389 |
| ENST00000538596.6 | hg38 | chr12 | 38,652,358 | 38,721,222 | 68,865 |
| ENST00000360449.3 | hg38 | chr12 | 38,653,834 | 38,907,430 | 253,597 |
| ENST00000331366.10 | hg19 | chr12 | 39,046,005 | 39,299,393 | 253,389 |
| ENST00000538596.6 | hg19 | chr12 | 39,046,160 | 39,115,024 | 68,865 |
| ENST00000360449.3 | hg19 | chr12 | 39,047,636 | 39,301,232 | 253,597 |
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