PNCK pregnancy up-regulated nonubiquitous CaM kinase
Information
- Symbol
- PNCK
- Type
- protein-coding
- Description
- pregnancy up-regulated nonubiquitous CaM kinase
- Entrez Gene ID
- 139728
- Genome
- hg19
- Position
- chrX:152,935,475-152,939,816
- Genome
- hg38
- Position
- chrX:153,670,020-153,674,361
- MIM
- 300680 OMIM
- HGNC
- HGNC:13415 HGNC
- Ensembl
- ENSG00000130822 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 10 |
not provided | 6 | 0 |
Uncertain significance | 0 | 18 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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32 |
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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
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
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Category | : |
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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 | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | BSTK3 |
SYNONYM | CaMK1b |
MIM | 300680 OMIM |
HGNC | HGNC:13415 HGNC |
Ensembl | ENSG00000130822 Ensembl |
AllianceGenome | HGNC:13415 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000340888.8 | hg38 | chrX | 153,669,733 | 153,673,813 | 4,081 |
ENST00000370150.5 | hg38 | chrX | 153,669,733 | 153,673,693 | 3,961 |
ENST00000447676.6 | hg38 | chrX | 153,670,020 | 153,674,361 | 4,342 |
ENST00000370142.5 | hg38 | chrX | 153,669,768 | 153,674,325 | 4,558 |
ENST00000370145.8 | hg38 | chrX | 153,669,784 | 153,673,288 | 3,505 |
ENST00000340888.8 | hg19 | chrX | 152,935,188 | 152,939,268 | 4,081 |
ENST00000370142.5 | hg19 | chrX | 152,935,223 | 152,939,780 | 4,558 |
ENST00000370145.8 | hg19 | chrX | 152,935,239 | 152,938,743 | 3,505 |
ENST00000370150.5 | hg19 | chrX | 152,935,188 | 152,939,148 | 3,961 |
ENST00000447676.6 | hg19 | chrX | 152,935,475 | 152,939,816 | 4,342 |
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