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mutLBSgeneDB |
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| Gene summary for CENPA |
 Gene summary |
| Basic gene Info. | Gene symbol | CENPA |
| Gene name | centromere protein A | |
| Synonyms | CENP-A|CenH3 | |
| Cytomap | UCSC genome browser: 2p23.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001042426.1, NM_001809.3, | |
| Description | centromere autoantigen Acentromere protein A, 17kDacentromere-specific histonehistone H3-like centromeric protein A | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 117139 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000115163 | ||
| HPRD : 00313 | ||
| Vega : OTTHUMG00000097073 | ||
| Protein | UniProt: P49450 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CENPA | |
| BioGPS: 1058 | ||
| Pathway | NCI Pathway Interaction Database: CENPA | |
| KEGG: CENPA | ||
| REACTOME: CENPA | ||
| Pathway Commons: CENPA | ||
| Context | iHOP: CENPA | |
| ligand binding site mutation search in PubMed: CENPA | ||
| UCL Cancer Institute: CENPA | ||
| 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 | GO:0051382 | kinetochore assembly | 11682612 | GO:0071459 | protein localization to chromosome, centromeric region | 11682612 |
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| Ligand binding site mutations for CENPA |
| 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 | R69 | S68N | COAD | 1 | R118 | R118P | SKCM | 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 CENPA |
| 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 | R118 | R118P | -0.66213474 | R69 | S68N | -0.54620294 |
| (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 CENPA from PDB |
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| Differential gene expression and gene-gene network for CENPA |
| 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 CENPA |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CENPA |
| 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 CENPA go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 3an2 | A | R118 | NUC | Nucleic Acids | 3an2 | A | R69 |
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| Conservation information for LBS of CENPA |
| Multiple alignments for P49450 in multiple species |
| LBS | AA sequence | # species | Species | A88 | DFNWQAQALLA | 1 | Homo sapiens | A88 | NYSWQSMALMA | 1 | Xenopus tropicalis | A88 | DYRWQAMALLA | 1 | Gallus gallus | A88 | DFWWQAQALLA | 1 | Mus musculus | D83 | FTRGVDFNWQA | 1 | Homo sapiens | D83 | YACGLNYSWQS | 1 | Xenopus tropicalis | D83 | FTRGVDYRWQA | 1 | Gallus gallus | D83 | FSRGVDFWWQA | 1 | Mus musculus | F122 | GRVTLFPKDVQ | 1 | Homo sapiens | F122 | KRVTLYVQDIQ | 1 | Xenopus tropicalis | F122 | RRVTLYPKDLQ | 1 | Gallus gallus | F122 | GRVTLFPKDIQ | 1 | Mus musculus | G46 | SRRRQGWLKEI | 1 | Homo sapiens | G46 | FRPGTRALMEI | 1 | Xenopus tropicalis | G46 | YRPGQRALREI | 1 | Gallus gallus | G46 | -RQKFMWLKEI | 1 | Mus musculus | K64 | HLLIRKLPFSR | 1 | Homo sapiens | K64 | ELLIRKAPFSR | 1 | Xenopus tropicalis | K64 | ALLLRRQPFAR | 1 | Gallus gallus | K64 | DLLFRKKPFSM | 1 | Mus musculus | L65 | LLIRKLPFSRL | 1 | Homo sapiens | L65 | LLIRKAPFSRL | 1 | Xenopus tropicalis | L65 | LLLRRQPFARV | 1 | Gallus gallus | L65 | LLFRKKPFSMV | 1 | Mus musculus | N85 | RGVDFNWQAQA | 1 | Homo sapiens | N85 | CGLNYSWQSMA | 1 | Xenopus tropicalis | N85 | RGVDYRWQAMA | 1 | Gallus gallus | N85 | RGVDFWWQAQA | 1 | Mus musculus | P66 | LIRKLPFSRLA | 1 | Homo sapiens | P66 | LIRKAPFSRLV | 1 | Xenopus tropicalis | P66 | LLRRQPFARVV | 1 | Gallus gallus | P66 | LFRKKPFSMVV | 1 | Mus musculus | Q87 | VDFNWQAQALL | 1 | Homo sapiens | Q87 | LNYSWQSMALM | 1 | Xenopus tropicalis | Q87 | VDYRWQAMALL | 1 | Gallus gallus | Q87 | VDFWWQAQALL | 1 | Mus musculus | R118 | TLHAGRVTLFP | 1 | Homo sapiens | R118 | SLHAKRVTLYV | 1 | Xenopus tropicalis | R118 | SLHARRVTLYP | 1 | Gallus gallus | R118 | SLHAGRVTLFP | 1 | Mus musculus | R63 | THLLIRKLPFS | 1 | Homo sapiens | R63 | TELLIRKAPFS | 1 | Xenopus tropicalis | R63 | TALLLRRQPFA | 1 | Gallus gallus | R63 | TDLLFRKKPFS | 1 | Mus musculus | R69 | KLPFSRLAREI | 1 | Homo sapiens | R69 | KAPFSRLVREV | 1 | Xenopus tropicalis | R69 | RQPFARVVREI | 1 | Gallus gallus | R69 | KKPFSMVVREI | 1 | Mus musculus | R72 | FSRLAREICVK | 1 | Homo sapiens | R72 | FSRLVREVCMT | 1 | Xenopus tropicalis | R72 | FARVVREICLL | 1 | Gallus gallus | R72 | FSMVVREICEK | 1 | Mus musculus | T120 | HAGRVTLFPKD | 2 | Homo sapiens, Mus musculus | T120 | HAKRVTLYVQD | 1 | Xenopus tropicalis | T120 | HARRVTLYPKD | 1 | Gallus gallus | V119 | LHAGRVTLFPK | 2 | Homo sapiens, Mus musculus | V119 | LHAKRVTLYVQ | 1 | Xenopus tropicalis | V119 | LHARRVTLYPK | 1 | Gallus gallus | W47 | RRRQGWLKEIR | 1 | Homo sapiens | W47 | RPGTRALMEIR | 1 | Xenopus tropicalis | W47 | RPGQRALREIR | 1 | Gallus gallus | W47 | RQKFMWLKEIK | 1 | Mus musculus | W86 | GVDFNWQAQAL | 1 | Homo sapiens | W86 | GLNYSWQSMAL | 1 | Xenopus tropicalis | W86 | GVDYRWQAMAL | 1 | Gallus gallus | W86 | GVDFWWQAQAL | 1 | Mus musculus |
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