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mutLBSgeneDB |
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| Gene summary for CHRNA9 |
 Gene summary |
| Basic gene Info. | Gene symbol | CHRNA9 |
| Gene name | cholinergic receptor, nicotinic, alpha 9 (neuronal) | |
| Synonyms | HSA243342|NACHRA9 | |
| Cytomap | UCSC genome browser: 4p14 | |
| Type of gene | protein-coding | |
| RefGenes | NM_017581.3, | |
| Description | NACHR alpha 9acetylcholine receptor, neuronal nicotinic, alpha-9 subunitcholinergic receptor, nicotinic, alpha polypeptide 9neuronal acetylcholine receptor protein, alpha-9 subunitneuronal acetylcholine receptor subunit alpha-9nicotinic acetylcholine | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 605116 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000174343 | ||
| HPRD : 16092 | ||
| Vega : OTTHUMG00000099375 | ||
| Protein | UniProt: Q9UGM1 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CHRNA9 | |
| BioGPS: 55584 | ||
| Pathway | NCI Pathway Interaction Database: CHRNA9 | |
| KEGG: CHRNA9 | ||
| REACTOME: CHRNA9 | ||
| Pathway Commons: CHRNA9 | ||
| Context | iHOP: CHRNA9 | |
| ligand binding site mutation search in PubMed: CHRNA9 | ||
| UCL Cancer Institute: CHRNA9 | ||
| 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 CHRNA9 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | N121 | K122N | LUSC | 1 | D226 | D226N | SKCM | 1 | D226 | V227A | STAD | 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 CHRNA9 |
| 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 | D226 | V227A | -1.6034005 | N121 | K122N | -0.87407832 | D226 | D226N | -0.77583848 |
| (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 CHRNA9 from PDB |
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| Differential gene expression and gene-gene network for CHRNA9 |
| 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 CHRNA9 |
| 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 CHRNA9 |
| 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 | DB00184 | Nicotine | Small molecule |  |
| Approved | DB00674 | Galantamine | Small molecule |  |
| Approved | DB00898 | Ethanol | Small molecule |  |
| Investigational | DB05069 | ATG003 | Small molecule |  |
| Investigational | DB05137 | Lobeline | Small molecule |  |
| Investigational | DB05740 | RPI-78M | Small molecule |  |
| Experimental | DB08837 | Tetraethylammonium | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CHRNA9 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 CHRNA9 |
| Multiple alignments for Q9UGM1 in multiple species |
| LBS | AA sequence | # species | Species | D226 | SEPYPDVTFTL | 3 | Homo sapiens, Gallus gallus, Rattus norvegicus | N121 | DIVLYNKADDE | 2 | Homo sapiens, Rattus norvegicus | N121 | DIVLYNKADDD | 1 | Gallus gallus | S175 | NLTFGSWTYNG | 3 | Homo sapiens, Gallus gallus, Rattus norvegicus | T177 | TFGSWTYNGNQ | 3 | Homo sapiens, Gallus gallus, Rattus norvegicus | W176 | LTFGSWTYNGN | 3 | Homo sapiens, Gallus gallus, Rattus norvegicus | Y120 | PDIVLYNKADD | 3 | Homo sapiens, Gallus gallus, Rattus norvegicus | Y178 | FGSWTYNGNQV | 3 | Homo sapiens, Gallus gallus, Rattus norvegicus | Y224 | CCSEPYPDVTF | 3 | Homo sapiens, Gallus gallus, Rattus norvegicus |
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