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mutLBSgeneDB |
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| Gene summary for KCNIP1 |
 Gene summary |
| Basic gene Info. | Gene symbol | KCNIP1 |
| Gene name | Kv channel interacting protein 1 | |
| Synonyms | KCHIP1|VABP | |
| Cytomap | UCSC genome browser: 5q35.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001034837.2, NM_001034838.2,NM_001278339.1,NM_001278340.1,NM_014592.3, | |
| Description | A-type potassium channel modulatory protein 1Kv channel-interacting protein 1potassium channel interacting protein 1vesicle APC-binding protein | |
| Modification date | 20141215 | |
| dbXrefs | MIM : 604660 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000182132 | ||
| HPRD : 06879 | ||
| Vega : OTTHUMG00000130442 | ||
| Protein | UniProt: Q9NZI2 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_KCNIP1 | |
| BioGPS: 30820 | ||
| Pathway | NCI Pathway Interaction Database: KCNIP1 | |
| KEGG: KCNIP1 | ||
| REACTOME: KCNIP1 | ||
| Pathway Commons: KCNIP1 | ||
| Context | iHOP: KCNIP1 | |
| ligand binding site mutation search in PubMed: KCNIP1 | ||
| UCL Cancer Institute: KCNIP1 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_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 KCNIP1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | E205 | L207I | COAD | 2 | E205 | L207F | COAD | 1 | D198 | D198Y | UCEC | 1 | N196 | N196H | UCEC | 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 KCNIP1 |
| 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 | N196 | N196H | -1.0307513 | E205 | L207F | -0.73464374 | E205 | L207I | -0.51145557 | D198 | D198Y | -0.47981234 |
| (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 KCNIP1 from PDB |
| PDB ID | PDB title | PDB structure | 2I2R | Crystal structure of the KChIP1/Kv4.3 T1 complex |  |
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| Differential gene expression and gene-gene network for KCNIP1 |
| 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 KCNIP1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for KCNIP1 |
| 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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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of KCNIP1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of KCNIP1 |
| Multiple alignments for Q9NZI2 in multiple species |
| LBS | AA sequence | # species | Species | D146 | TFNLYDINKDG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D150 | YDINKDGYINK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D194 | FFQKMDKNKDG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D198 | MDKNKDGIVTL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E157 | YINKEEMMDIV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E205 | IVTLDEFLESC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I200 | KNKDGIVTLDE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N148 | NLYDINKDGYI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N154 | KDGYINKEEMM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N196 | QKMDKNKDGIV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T202 | KDGIVTLDEFL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y152 | INKDGYINKEE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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