KCNJ8 potassium inwardly rectifying channel subfamily J member 8
Information
- Symbol
- KCNJ8
- Type
- protein-coding
- Description
- potassium inwardly rectifying channel subfamily J member 8
- Entrez Gene ID
- 3764
- Genome
- hg19
- Position
- chr12:21,917,918-21,928,534
- Genome
- hg38
- Position
- chr12:21,764,984-21,775,600
- MIM
- 600935 OMIM
- HGNC
- HGNC:6269 HGNC
- Ensembl
- ENSG00000121361 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely pathogenic | 0 | 4 |
| Benign | 0 | 36 |
| Likely benign | 0 | 154 |
| Conflicting classifications of pathogenicity | 0 | 12 |
| Uncertain significance | 0 | 194 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
88 |
 |
282 |
 |
6 |
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
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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 | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | KIR6.1 |
| SYNONYM | uKATP-1 |
| MIM | 600935 OMIM |
| HGNC | HGNC:6269 HGNC |
| Ensembl | ENSG00000121361 Ensembl |
| AllianceGenome | HGNC:6269 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000665145.1 | hg38 | chr12 | 21,764,984 | 21,775,600 | 10,617 |
| ENST00000240662.3 | hg38 | chr12 | 21,764,955 | 21,774,706 | 9,752 |
| ENST00000667884.1 | hg38 | chr12 | 21,764,988 | 21,775,056 | 10,069 |
| ENST00000240662.3 | hg19 | chr12 | 21,917,889 | 21,927,640 | 9,752 |
| ENST00000665145.1 | hg19 | chr12 | 21,917,918 | 21,928,534 | 10,617 |
| ENST00000667884.1 | hg19 | chr12 | 21,917,922 | 21,927,990 | 10,069 |
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