KCNJ1 potassium inwardly rectifying channel subfamily J member 1
Information
- Symbol
- KCNJ1
- Type
- protein-coding
- Description
- potassium inwardly rectifying channel subfamily J member 1
- Entrez Gene ID
- 3758
- Genome
- hg19
- Position
- chr11:128,708,639-128,712,429
- Genome
- hg38
- Position
- chr11:128,838,744-128,842,534
- MIM
- 600359 OMIM
- HGNC
- HGNC:6255 HGNC
- Ensembl
- ENSG00000151704 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 6 | 68 |
| Likely pathogenic | 0 | 44 |
| Benign | 0 | 28 |
| Likely benign | 0 | 186 |
| Conflicting classifications of pathogenicity | 0 | 36 |
| Uncertain significance | 0 | 174 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
76 |
 |
372 |
 |
30 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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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
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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 | KIR1.1 |
| SYNONYM | ROMK |
| SYNONYM | ROMK1 |
| MIM | 600359 OMIM |
| HGNC | HGNC:6255 HGNC |
| Ensembl | ENSG00000151704 Ensembl |
| AllianceGenome | HGNC:6255 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000392666.6 | hg38 | chr11 | 128,838,020 | 128,867,296 | 29,277 |
| ENST00000392665.6 | hg38 | chr11 | 128,836,315 | 128,867,296 | 30,982 |
| ENST00000392664.2 | hg38 | chr11 | 128,838,744 | 128,842,534 | 3,791 |
| ENST00000440599.6 | hg38 | chr11 | 128,838,057 | 128,867,370 | 29,314 |
| ENST00000324036.7 | hg38 | chr11 | 128,838,155 | 128,867,373 | 29,219 |
| ENST00000392665.6 | hg19 | chr11 | 128,706,210 | 128,737,191 | 30,982 |
| ENST00000392666.6 | hg19 | chr11 | 128,707,915 | 128,737,191 | 29,277 |
| ENST00000440599.6 | hg19 | chr11 | 128,707,952 | 128,737,265 | 29,314 |
| ENST00000324036.7 | hg19 | chr11 | 128,708,050 | 128,737,268 | 29,219 |
| ENST00000392664.2 | hg19 | chr11 | 128,708,639 | 128,712,429 | 3,791 |
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