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mutLBSgeneDB |
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| Gene summary for QKI |
 Gene summary |
| Basic gene Info. | Gene symbol | QKI |
| Gene name | QKI, KH domain containing, RNA binding | |
| Synonyms | Hqk|QK|QK1|QK3|hqkI | |
| Cytomap | UCSC genome browser: 6q26 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001301085.1, NM_006775.2,NM_206853.2,NM_206854.2,NM_206855.2, | |
| Description | RNA binding protein HQKhomolog of mouse quaking QKI (KH domain RNA binding protein)protein quakingquaking homolog, KH domain RNA binding | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 609590 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000112531 | ||
| HPRD : 06691 | ||
| Vega : OTTHUMG00000015977 | ||
| Protein | UniProt: Q96PU8 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_QKI | |
| BioGPS: 9444 | ||
| Pathway | NCI Pathway Interaction Database: QKI | |
| KEGG: QKI | ||
| REACTOME: QKI | ||
| Pathway Commons: QKI | ||
| Context | iHOP: QKI | |
| ligand binding site mutation search in PubMed: QKI | ||
| UCL Cancer Institute: QKI | ||
| 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 QKI |
| 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 | R106 | R106T | BLCA | 1 | K120 | G118R | COAD | 1 | K111 | Q112P | GBM | 1 | T203 | R205G | LUAD | 1 | L194 | M195I | LUAD | 1 | T203 | N201S | PRAD | 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 QKI |
| 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 | L194 | M195I | 0.49996666 | T203 | R205G | -1.5049398 | K120 | G118R | -0.43338807 | T203 | N201S | -0.27376133 | K111 | Q112P | -0.23481051 | R106 | R106T | -0.069159449 |
| (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 QKI from PDB |
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| Differential gene expression and gene-gene network for QKI |
| 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 QKI |
| 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 QKI |
| 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 QKI go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 4jvh | A | R106 K111 K120 L194 T203 |
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| Conservation information for LBS of QKI |
| Multiple alignments for Q96PU8 in multiple species |
| LBS | AA sequence | # species | Species | A198 | QLMELAILNGT | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Gallus gallus | G100 | DFNFVGRILGP | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Gallus gallus | G104 | VGRILGPRGLT | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Gallus gallus | G107 | ILGPRGLTAKQ | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Gallus gallus | K111 | RGLTAKQLEAE | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Gallus gallus | K120 | AETGCKIMVRG | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Gallus gallus | K190 | GEDSLKKMQLM | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Gallus gallus | L103 | FVGRILGPRGL | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Gallus gallus | L194 | LKKMQLMELAI | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Gallus gallus | L197 | MQLMELAILNG | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Gallus gallus | M122 | TGCKIMVRGKG | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Gallus gallus | N97 | EYPDFNFVGRI | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Gallus gallus | P105 | GRILGPRGLTA | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Gallus gallus | Q193 | SLKKMQLMELA | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Gallus gallus | R101 | FNFVGRILGPR | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Gallus gallus | R106 | RILGPRGLTAK | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Gallus gallus | R124 | CKIMVRGKGSM | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Gallus gallus | R130 | GKGSMRDKKKE | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Gallus gallus | S128 | VRGKGSMRDKK | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Gallus gallus | T203 | AILNGTYRDAN | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Gallus gallus | V123 | GCKIMVRGKGS | 5 | Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Gallus gallus | Y17 | KPTPDYLMQLM | 4 | Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus | Y17 | KPSPDYLMQLM | 1 | Gallus gallus |
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