PCSK7 proprotein convertase subtilisin/kexin type 7
Information
- Symbol
- PCSK7
- Type
- protein-coding
- Description
- proprotein convertase subtilisin/kexin type 7
- Entrez Gene ID
- 9159
- Genome
- hg19
- Position
- chr11:117,075,053-117,102,789
- Genome
- hg38
- Position
- chr11:117,204,337-117,232,073
- MIM
- 604872 OMIM
- HGNC
- HGNC:8748 HGNC
- Ensembl
- ENSG00000160613 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 4 |
| Likely benign | 0 | 12 |
| Uncertain significance | 0 | 68 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
84 |
 |
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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| 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
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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 | LPC |
| SYNONYM | PC7 |
| SYNONYM | PC8 |
| SYNONYM | SPC7 |
| MIM | 604872 OMIM |
| HGNC | HGNC:8748 HGNC |
| Ensembl | ENSG00000160613 Ensembl |
| AllianceGenome | HGNC:8748 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000320934.8 | hg38 | chr11 | 117,204,337 | 117,232,073 | 27,737 |
| ENST00000524507.6 | hg38 | chr11 | 117,205,068 | 117,232,033 | 26,966 |
| ENST00000676339.1 | hg38 | chr11 | 117,205,068 | 117,232,094 | 27,027 |
| ENST00000320934.8 | hg19 | chr11 | 117,075,053 | 117,102,789 | 27,737 |
| ENST00000524507.6 | hg19 | chr11 | 117,075,784 | 117,102,749 | 26,966 |
| ENST00000676339.1 | hg19 | chr11 | 117,075,784 | 117,102,810 | 27,027 |
| Key | Value |
|---|---|
| strand | - |
| start | 117,075,786 |
| Gene Symbol | PCSK7 |
| Entrez GeneId | 9,159 |
| Chr Band | 11q23.3 |
| end | 117,103,240 |
| chr | chr11 |
| Name | proprotein convertase subtilisin/kexin type 7 |
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