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mutLBSgeneDB |
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| Gene summary for KCNK1 |
 Gene summary |
| Basic gene Info. | Gene symbol | KCNK1 |
| Gene name | potassium channel, subfamily K, member 1 | |
| Synonyms | DPK|HOHO|K2P1|K2p1.1|KCNO1|TWIK-1|TWIK1 | |
| Cytomap | UCSC genome browser: 1q42-q43 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002245.3, | |
| Description | inward rectifying potassium channel protein TWIK-1potassium channel KCNO1potassium channel subfamily K member 1potassium inwardly-rectifying channel, subfamily K, member 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 601745 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000135750 | ||
| HPRD : 03447 | ||
| Vega : OTTHUMG00000037923 | ||
| Protein | UniProt: O00180 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_KCNK1 | |
| BioGPS: 3775 | ||
| Pathway | NCI Pathway Interaction Database: KCNK1 | |
| KEGG: KCNK1 | ||
| REACTOME: KCNK1 | ||
| Pathway Commons: KCNK1 | ||
| Context | iHOP: KCNK1 | |
| ligand binding site mutation search in PubMed: KCNK1 | ||
| UCL Cancer Institute: KCNK1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for KCNK1 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | G121 | G121D | COAD | 1 | I226 | I226V | HNSC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for KCNK1 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | G121 | G121D | -0.71869887 | I226 | I226V | -0.47553698 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for KCNK1 from PDB |
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| Differential gene expression and gene-gene network for KCNK1 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for KCNK1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0020507 | Hyperplasia | 1 | Therapeutic |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for KCNK1 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB00308 | Ibutilide | Small molecule |  |
| Approved | DB00908 | Quinidine | Small molecule |  |
| Approved | DB01346 | Quinidine barbiturate | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of KCNK1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | K | POTASSIUM(1+) | 3ukm | A | G121 | K | POTASSIUM(1+) | 3ukm | B | G121 | K | POTASSIUM(1+) | 3ukm | C | G121 | K | POTASSIUM(1+) | 3ukm | C | G121 | K | POTASSIUM(1+) | 3ukm | D | G121 | K | POTASSIUM(1+) | 3ukm | D | G121 | K | POTASSIUM(1+) | 3ukm | A | I226 | K | POTASSIUM(1+) | 3ukm | A | I226 | K | POTASSIUM(1+) | 3ukm | B | I226 | K | POTASSIUM(1+) | 3ukm | B | I226 | K | POTASSIUM(1+) | 3ukm | C | I226 | K | POTASSIUM(1+) | 3ukm | C | I226 | K | POTASSIUM(1+) | 3ukm | D | I226 | K | POTASSIUM(1+) | 3ukm | D | I226 |
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| Conservation information for LBS of KCNK1 |
| Multiple alignments for O00180 in multiple species |
| LBS | AA sequence | # species | Species | G119 | VLSTTGYGHTV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | G121 | STTGYGHTVPL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | G227 | SLSTIGLGDYV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | G229 | STIGLGDYVPG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | I226 | ISLSTIGLGDY | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L228 | LSTIGLGDYVP | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | S116 | ASTVLSTTGYG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | T117 | STVLSTTGYGH | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | T118 | TVLSTTGYGHT | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | T225 | FISLSTIGLGD | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y120 | LSTTGYGHTVP | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus |
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