KCNJ5 potassium inwardly rectifying channel subfamily J member 5
Information
- Symbol
- KCNJ5
- Type
- protein-coding
- Description
- potassium inwardly rectifying channel subfamily J member 5
- Entrez Gene ID
- 3762
- Genome
- hg19
- Position
- chr11:128,761,251-128,791,058
- Genome
- hg38
- Position
- chr11:128,891,356-128,921,163
- MIM
- 600734 OMIM
- HGNC
- HGNC:6266 HGNC
- Ensembl
- ENSG00000120457 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 4 | 10 |
| Likely pathogenic | 0 | 6 |
| Benign | 4 | 102 |
| Likely benign | 0 | 228 |
| Conflicting classifications of pathogenicity | 0 | 54 |
| not provided | 2 | 0 |
| Uncertain significance | 0 | 456 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
248 |
 |
496 |
 |
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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| 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 | CIR |
| SYNONYM | GIRK4 |
| SYNONYM | KATP1 |
| SYNONYM | KIR3.4 |
| SYNONYM | LQT13 |
| MIM | 600734 OMIM |
| HGNC | HGNC:6266 HGNC |
| Ensembl | ENSG00000120457 Ensembl |
| AllianceGenome | HGNC:6266 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000338350.4 | hg38 | chr11 | 128,891,469 | 128,916,853 | 25,385 |
| ENST00000533599.1 | hg38 | chr11 | 128,911,184 | 128,916,731 | 5,548 |
| ENST00000529694.6 | hg38 | chr11 | 128,891,356 | 128,921,163 | 29,808 |
| ENST00000529694.6 | hg19 | chr11 | 128,761,251 | 128,791,058 | 29,808 |
| ENST00000338350.4 | hg19 | chr11 | 128,761,364 | 128,786,748 | 25,385 |
| ENST00000533599.1 | hg19 | chr11 | 128,781,079 | 128,786,626 | 5,548 |
| Key | Value |
|---|---|
| strand | + |
| start | 128,761,312 |
| Gene Symbol | KCNJ5 |
| Entrez GeneId | 3,762 |
| Chr Band | 11q24 |
| end | 128,787,950 |
| chr | chr11 |
| Name | potassium inwardly-rectifying channel; subfamily J; member 5 |
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