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mutLBSgeneDB |
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| Gene summary for KIF5A |
 Gene summary |
| Basic gene Info. | Gene symbol | KIF5A |
| Gene name | kinesin family member 5A | |
| Synonyms | D12S1889|MY050|NKHC|SPG10 | |
| Cytomap | UCSC genome browser: 12q13.13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_004984.2, | |
| Description | KIF5A variant proteinkinesin heavy chain isoform 5Akinesin heavy chain neuron-specific 1kinesin, heavy chain, neuron-specificneuronal kinesin heavy chain | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 602821 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000155980 | ||
| HPRD : 09108 | ||
| Vega : OTTHUMG00000170143 | ||
| Protein | UniProt: Q12840 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_KIF5A | |
| BioGPS: 3798 | ||
| Pathway | NCI Pathway Interaction Database: KIF5A | |
| KEGG: KIF5A | ||
| REACTOME: KIF5A | ||
| Pathway Commons: KIF5A | ||
| Context | iHOP: KIF5A | |
| ligand binding site mutation search in PubMed: KIF5A | ||
| UCL Cancer Institute: KIF5A | ||
| 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 KIF5A |
| 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 | A234 | G235E | SKCM | 1 | R17 | P18S | 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 KIF5A |
| 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 | R17 | P18S | -0.854582 | A234 | G235E | -0.4056933 |
| (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 KIF5A from PDB |
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| Differential gene expression and gene-gene network for KIF5A |
| 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 KIF5A |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0003873 | Arthritis, Rheumatoid | 7 | Biomarker, GeneticVariation |
| umls:C1858712 | Spastic paraplegia 10, autosomal dominant | 5 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| 45792 | G235E | Pathogenic | Germline | MedGen:C1858712 OMIM:604187 Orphanet:ORPHA100991 |
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| Pharmacological information for KIF5A |
| 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 KIF5A go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ALF | TETRAFLUOROALUMINATE(1-) | 4uy0 | C | A234 | ADP | ADP | 4uy0 | C | R17 |
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| Conservation information for LBS of KIF5A |
| Multiple alignments for Q12840 in multiple species |
| LBS | AA sequence | # species | Species | A234 | YLVDLAGSEKV | 2 | Homo sapiens, Mus musculus | A234 | YLADLAGSEKV | 1 | Rattus norvegicus | G91 | GQTSSGKTHTM | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | R17 | VLCRFRPLNQA | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | S202 | NMNEHSSRSHS | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | S89 | AYGQTSSGKTH | 3 | Homo sapiens, Rattus norvegicus, Mus musculus | T93 | TSSGKTHTMEG | 3 | Homo sapiens, Rattus norvegicus, Mus musculus |
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