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mutLBSgeneDB |
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| Gene summary for HEXA |
 Gene summary |
| Basic gene Info. | Gene symbol | HEXA |
| Gene name | hexosaminidase A (alpha polypeptide) | |
| Synonyms | TSD | |
| Cytomap | UCSC genome browser: 15q24.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000520.4, | |
| Description | N-acetyl-beta-glucosaminidase subunit alphabeta-N-acetylhexosaminidase subunit alphabeta-hexosaminidase subunit alphahexosaminidase subunit A | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 606869 | |
| HGNC : HGNC | ||
| HPRD : 06040 | ||
| Protein | UniProt: P06865 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HEXA | |
| BioGPS: 3073 | ||
| Pathway | NCI Pathway Interaction Database: HEXA | |
| KEGG: HEXA | ||
| REACTOME: HEXA | ||
| Pathway Commons: HEXA | ||
| Context | iHOP: HEXA | |
| ligand binding site mutation search in PubMed: HEXA | ||
| UCL Cancer Institute: HEXA | ||
| 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 HEXA |
| 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 | E323 | D325N | BRCA | 1 | N423 | R424S | LUAD | 1 | W392 | E394D | LUSC | 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 HEXA |
| 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 | W392 | E394D | -1.1240807 | N423 | R424S | -0.94531199 | E323 | D325N | -0.54992399 |
| (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 HEXA from PDB |
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| Differential gene expression and gene-gene network for HEXA |
| 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 HEXA |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0039373 | Tay-Sachs Disease | 75 | Biomarker, GeneticVariation |
| umls:C3714756 | Intellectual Disability | 1 | Biomarker |
| umls:C1848913 | Tay-Sachs Disease, Juvenile | 1 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for HEXA |
| 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 HEXA go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NGT | 3AR,5R,6S,7R,7AR-5-HYDROXYMETHYL-2-METHYL-5,6,7,7A-TETRAHYDRO-3AH-PYRANO[3,2-D]THIAZOLE-6,7-DIOL | 2gk1 | E | E323 N423 | NGT | 3AR,5R,6S,7R,7AR-5-HYDROXYMETHYL-2-METHYL-5,6,7,7A-TETRAHYDRO-3AH-PYRANO[3,2-D]THIAZOLE-6,7-DIOL | 2gk1 | G | E323 W392 | NGT | 3AR,5R,6S,7R,7AR-5-HYDROXYMETHYL-2-METHYL-5,6,7,7A-TETRAHYDRO-3AH-PYRANO[3,2-D]THIAZOLE-6,7-DIOL | 2gk1 | A | E323 W392 N423 | NGT | 3AR,5R,6S,7R,7AR-5-HYDROXYMETHYL-2-METHYL-5,6,7,7A-TETRAHYDRO-3AH-PYRANO[3,2-D]THIAZOLE-6,7-DIOL | 2gk1 | C | E323 W392 N423 |
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| Conservation information for LBS of HEXA |
| Multiple alignments for P06865 in multiple species |
| LBS | AA sequence | # species | Species | D207 | HWHLVDDSSFP | 3 | Mus musculus, Rattus norvegicus, Bos taurus | D207 | HWHLVDDPSFP | 1 | Homo sapiens | D207 | HWHIVDTQSFP | 1 | Arabidopsis thaliana | D322 | LHLGGDEVDFT | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D322 | VHLGGDEVNTT | 1 | Arabidopsis thaliana | D34 | NFQTSDQRYVL | 1 | Homo sapiens | D34 | QVSHGGRRMYL | 1 | Arabidopsis thaliana | D34 | YIQTYHRRYTL | 1 | Mus musculus | D34 | YIQTSHRRYTL | 1 | Rattus norvegicus | D34 | YIQTSELRYTI | 1 | Bos taurus | E130 | CLLLSETVWGA | 1 | Homo sapiens | E130 | AQLEAKSVYGA | 1 | Arabidopsis thaliana | E130 | CLLASETVWGA | 1 | Mus musculus | E130 | CLLSSETVWGA | 1 | Rattus norvegicus | E130 | SLLLSETVWGA | 1 | Bos taurus | E323 | HLGGDEVDFTC | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E323 | HLGGDEVNTTC | 1 | Arabidopsis thaliana | E462 | ACMWGEYVDST | 3 | Mus musculus, Rattus norvegicus, Bos taurus | E462 | ACMWGEYVDNT | 1 | Homo sapiens | E462 | VCMWGEHIDAS | 1 | Arabidopsis thaliana | F164 | TEIEDFPRFPH | 1 | Homo sapiens | F164 | WNIIDQPRFSY | 1 | Arabidopsis thaliana | F164 | TKIKDFPRFPH | 1 | Mus musculus | F164 | TKITDFPRFPH | 1 | Rattus norvegicus | F164 | TDIEDFPRFPH | 1 | Bos taurus | H262 | FDTPGHTLSWG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | H262 | IDVPGHALSWG | 1 | Arabidopsis thaliana | N115 | LESVENYTLTI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N115 | YGADESYKLVV | 1 | Arabidopsis thaliana | N115 | LGSVENYTLTI | 1 | Bos taurus | N157 | --FFINKTEIE | 1 | Homo sapiens | N157 | IEILMTPWNII | 1 | Arabidopsis thaliana | N157 | --FFINKTKIK | 1 | Mus musculus | N157 | --FFINKTKIT | 1 | Rattus norvegicus | N157 | --FYVNKTDIE | 1 | Bos taurus | N423 | --WYLNRVKYG | 2 | Mus musculus, Rattus norvegicus | N423 | --WYLNRISYG | 1 | Homo sapiens | N423 | EFWYLDHID-- | 1 | Arabidopsis thaliana | N423 | --WYLNHITYG | 1 | Bos taurus | Q35 | FQTSDQRYVLY | 1 | Homo sapiens | Q35 | VSHGGRRMYL- | 1 | Arabidopsis thaliana | Q35 | IQTYHRRYTLY | 1 | Mus musculus | Q35 | IQTSHRRYTLY | 1 | Rattus norvegicus | Q35 | IQTSELRYTIF | 1 | Bos taurus | R178 | LLDTSRHYLPL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | R178 | LIDTSRHYLPL | 1 | Arabidopsis thaliana | R36 | QTSDQRYVLYP | 1 | Homo sapiens | R36 | SHGGRRMYL-S | 1 | Arabidopsis thaliana | R36 | QTYHRRYTLYP | 1 | Mus musculus | R36 | QTSHRRYTLYP | 1 | Rattus norvegicus | R36 | QTSELRYTIFP | 1 | Bos taurus | S33 | QNFQTSDQRYV | 1 | Homo sapiens | S33 | AQVSHGGRRMY | 1 | Arabidopsis thaliana | S33 | QYIQTYHRRYT | 1 | Mus musculus | S33 | QYIQTSHRRYT | 1 | Rattus norvegicus | S33 | QYIQTSELRYT | 1 | Bos taurus | T32 | PQNFQTSDQRY | 1 | Homo sapiens | T32 | PAQVSHGGRRM | 1 | Arabidopsis thaliana | T32 | PQYIQTYHRRY | 1 | Mus musculus | T32 | PQYIQTSHRRY | 1 | Rattus norvegicus | T32 | PQYIQTSELRY | 1 | Bos taurus | V113 | PNLESVENYTL | 2 | Mus musculus, Rattus norvegicus | V113 | PTLESVENYTL | 1 | Homo sapiens | V113 | -EYGADESYKL | 1 | Arabidopsis thaliana | V113 | PSLGSVENYTL | 1 | Bos taurus | W147 | FSQLVWKSAEG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W147 | FSQLCHFNLKK | 1 | Arabidopsis thaliana | W147 | FSQLIWRSPEG | 1 | Bos taurus | W373 | KGYVVWQEVFD | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | W373 | YEIINWEETFI | 1 | Arabidopsis thaliana | W392 | TIIQVWREEMP | 2 | Mus musculus, Rattus norvegicus | W392 | TIIQVWREDIP | 1 | Homo sapiens | W392 | TVVHNWLN--- | 1 | Arabidopsis thaliana | W392 | TIIQVWREEIP | 1 | Bos taurus | W460 | GEACMWGEYVD | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | W460 | GEVCMWGEHID | 1 | Arabidopsis thaliana | Y421 | AP--WYLNRVK | 2 | Mus musculus, Rattus norvegicus | Y421 | AP--WYLNRIS | 1 | Homo sapiens | Y421 | NQEFWYLDHID | 1 | Arabidopsis thaliana | Y421 | AP--WYLNHIT | 1 | Bos taurus |
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