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mutLBSgeneDB |
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| Gene summary for HEXB |
 Gene summary |
| Basic gene Info. | Gene symbol | HEXB |
| Gene name | hexosaminidase B (beta polypeptide) | |
| Synonyms | ENC-1AS|HEL-248 | |
| Cytomap | UCSC genome browser: 5q13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000521.3, NM_001292004.1, | |
| Description | HCC-7N-acetyl-beta-glucosaminidase subunit betabeta-N-acetylhexosaminidase subunit betabeta-hexosaminidase subunit betacervical cancer proto-oncogene 7 proteinepididymis luminal protein 248hexosaminidase subunit B | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 606873 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000049860 | ||
| HPRD : 06043 | ||
| Vega : OTTHUMG00000102057 | ||
| Protein | UniProt: P07686 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HEXB | |
| BioGPS: 3074 | ||
| Pathway | NCI Pathway Interaction Database: HEXB | |
| KEGG: HEXB | ||
| REACTOME: HEXB | ||
| Pathway Commons: HEXB | ||
| Context | iHOP: HEXB | |
| ligand binding site mutation search in PubMed: HEXB | ||
| UCL Cancer Institute: HEXB | ||
| 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 HEXB |
| 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 | M65 | M65I | BLCA | 1 | W405 | E407Q | BLCA | 1 | N190 | N190D | 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 HEXB |
| 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 | W405 | E407Q | -1.6080332 | N190 | N190D | -0.5299242 | M65 | M65I | -0.3862447 |
| (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 HEXB from PDB |
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| Differential gene expression and gene-gene network for HEXB |
| 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 HEXB |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0036161 | Sandhoff Disease | 35 | Biomarker, GeneticVariation |
| umls:C0751490 | Infantile Sandhoff Disease | 2 | Biomarker, GeneticVariation |
| umls:C2609414 | Acute Kidney Injury | 1 | Biomarker |
| 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 HEXB |
| 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 |
| Experimental | DB02813 | 2-Acetamido-2-Deoxy-D-Glucono-1,5-Lactone | Small molecule |  |
| Experimental | DB03747 | 3ar,5r,6s,7r,7ar-5-Hydroxymethyl-2-Methyl-5,6,7,7a-Tetrahydro-3ah-Pyrano[3,2-D]Thiazole-6,7-Diol | Small molecule |  |
| Experimental | DB03861 | (2r,3r,4s,5r)-2-Acetamido-3,4-Dihydroxy-5-Hydroxymethyl-Piperidinium | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of HEXB go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 1nou | A | M65 N190 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 1nou | B | M65 N190 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 1now | A | M65 N190 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 1now | B | M65 N190 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 1np0 | A | M65 N190 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 1np0 | B | M65 N190 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 2gjx | C | M65 N190 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 2gjx | F | M65 N190 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 2gjx | G | M65 N190 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 2gk1 | B | M65 N190 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 2gk1 | D | M65 N190 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 2gk1 | F | M65 N190 | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 2gk1 | H | M65 N190 | NDG | N-ACETYL-L-GLUTAMATE(2-) | 2gjx | B | N190 | IFG | (2R,3R,4S,5R)-2-ACETAMIDO-3,4-DIHYDROXY-5-HYDROXYMETHYL-PIPERIDINE | 1now | A | W405 | IFG | (2R,3R,4S,5R)-2-ACETAMIDO-3,4-DIHYDROXY-5-HYDROXYMETHYL-PIPERIDINE | 1now | B | W405 | NGT | 3AR,5R,6S,7R,7AR-5-HYDROXYMETHYL-2-METHYL-5,6,7,7A-TETRAHYDRO-3AH-PYRANO[3,2-D]THIAZOLE-6,7-DIOL | 1np0 | A | W405 | NGT | 3AR,5R,6S,7R,7AR-5-HYDROXYMETHYL-2-METHYL-5,6,7,7A-TETRAHYDRO-3AH-PYRANO[3,2-D]THIAZOLE-6,7-DIOL | 1np0 | B | W405 | GDL | 2-ACETAMIDO-2-DEOXY-D-GLUCONO-1,5-LACTONE | 1o7a | A | W405 | GDL | 2-ACETAMIDO-2-DEOXY-D-GLUCONO-1,5-LACTONE | 1o7a | B | W405 | GDL | 2-ACETAMIDO-2-DEOXY-D-GLUCONO-1,5-LACTONE | 1o7a | C | W405 | GDL | 2-ACETAMIDO-2-DEOXY-D-GLUCONO-1,5-LACTONE | 1o7a | D | W405 | GDL | 2-ACETAMIDO-2-DEOXY-D-GLUCONO-1,5-LACTONE | 1o7a | E | W405 | GDL | 2-ACETAMIDO-2-DEOXY-D-GLUCONO-1,5-LACTONE | 1o7a | F | W405 | 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 | B | W405 | 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 | D | W405 | CP6 | PYRIMETHAMINE | 3lmy | B | W405 |
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| Conservation information for LBS of HEXB |
| Multiple alignments for P07686 in multiple species |
| LBS | AA sequence | # species | Species | D240 | HWHIVDDQSFP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D240 | HWHIVDEQSFP | 1 | Arabidopsis thaliana | D240 | HWHLVDSESFP | 1 | Caenorhabditis elegans | D354 | IHLGGDEVE-- | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D354 | FHLGGDEVN-- | 1 | Arabidopsis thaliana | D354 | LHLGGDEVSDY | 1 | Caenorhabditis elegans | D452 | --WYLDLISYG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D452 | GYWYLDHLD-- | 1 | Arabidopsis thaliana | D452 | --WYLNYIKYG | 1 | Caenorhabditis elegans | E355 | HLGGDEVE--- | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E355 | HLGGDEVN--- | 1 | Arabidopsis thaliana | E355 | HLGGDEVSDYI | 1 | Caenorhabditis elegans | E491 | ACLWGEYVDAT | 2 | Homo sapiens, Rattus norvegicus | E491 | VCMWGETADTS | 1 | Arabidopsis thaliana | E491 | AAIWGELVDNT | 1 | Caenorhabditis elegans | E491 | ACLWGEFVDAT | 1 | Mus musculus | H237 | NVLHWHIVDDQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H237 | NVLHWHIVDEQ | 1 | Arabidopsis thaliana | H237 | NVLHWHLVDSE | 1 | Caenorhabditis elegans | H294 | FDTPGHTLSWG | 1 | Homo sapiens | H294 | VDVPGHAESWG | 1 | Arabidopsis thaliana | H294 | FDLPGHTSSW- | 1 | Caenorhabditis elegans | H294 | FDTPGHTQSWG | 1 | Mus musculus | H294 | FDSPGHTQSWG | 1 | Rattus norvegicus | L453 | -WYLDLISYGQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L453 | YWYLDHLD--V | 1 | Arabidopsis thaliana | L453 | -WYLNYIKYGA | 1 | Caenorhabditis elegans | L69 | KMTPNLLHLAP | 1 | Homo sapiens | L69 | SFGNETLSVDP | 1 | Arabidopsis thaliana | L69 | VYGSKNRTITY | 1 | Caenorhabditis elegans | L69 | QMFPRLLYISA | 1 | Mus musculus | L69 | QVFPRLLYISP | 1 | Rattus norvegicus | M65 | PLSVKMTPNLL | 1 | Homo sapiens | M65 | PAEFSFGNETL | 1 | Arabidopsis thaliana | M65 | PKKIVYGSKNR | 1 | Caenorhabditis elegans | M65 | PRSVQMFPRLL | 1 | Mus musculus | M65 | PRSVQVFPRLL | 1 | Rattus norvegicus | N190 | GTFTINEST-- | 2 | Homo sapiens, Rattus norvegicus | N190 | KSVQIYKAPWY | 1 | Arabidopsis thaliana | N190 | QEYQIRTVE-- | 1 | Caenorhabditis elegans | N190 | GTFTINESS-- | 1 | Mus musculus | P54 | SAKPGPALWPL | 1 | Homo sapiens | P54 | ----PPYLWPL | 1 | Arabidopsis thaliana | P54 | ---SVGGVWPL | 1 | Caenorhabditis elegans | P54 | ----QPALWPF | 1 | Mus musculus | P54 | ----QPALWPM | 1 | Rattus norvegicus | P67 | SVKMTPNLLHL | 1 | Homo sapiens | P67 | EFSFGNETLSV | 1 | Arabidopsis thaliana | P67 | KIVYGSKNRTI | 1 | Caenorhabditis elegans | P67 | SVQMFPRLLYI | 1 | Mus musculus | P67 | SVQVFPRLLYI | 1 | Rattus norvegicus | R211 | LIDTSRHYLPV | 2 | Homo sapiens, Rattus norvegicus | R211 | LIDTSRHYLPI | 1 | Arabidopsis thaliana | R211 | MIDSSRHFLSV | 1 | Caenorhabditis elegans | R211 | LIDTSRHFLPV | 1 | Mus musculus | T66 | LSVKMTPNLLH | 1 | Homo sapiens | T66 | AEFSFGNETLS | 1 | Arabidopsis thaliana | T66 | KKIVYGSKNRT | 1 | Caenorhabditis elegans | T66 | RSVQMFPRLLY | 1 | Mus musculus | T66 | RSVQVFPRLLY | 1 | Rattus norvegicus | W405 | KGSIVWQEVFD | 1 | Homo sapiens | W405 | WTPVNWEETFS | 1 | Arabidopsis thaliana | W405 | RKPIFWQEVFD | 1 | Caenorhabditis elegans | W405 | KNSIVWQEVFD | 1 | Mus musculus | W405 | KSSIVWQDVFD | 1 | Rattus norvegicus | W424 | TIVEVWKDSAY | 1 | Homo sapiens | W424 | TVIQNWLVSDI | 1 | Arabidopsis thaliana | W424 | AVIHIWKGNTH | 1 | Caenorhabditis elegans | W424 | TVVEVWKSEHY | 1 | Mus musculus | W424 | TVVEVWKSENY | 1 | Rattus norvegicus | W489 | GEACLWGEYVD | 2 | Homo sapiens, Rattus norvegicus | W489 | GEVCMWGETAD | 1 | Arabidopsis thaliana | W489 | GIAAIWGELVD | 1 | Caenorhabditis elegans | W489 | GEACLWGEFVD | 1 | Mus musculus | Y450 | AP--WYLDLIS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y450 | NQGYWYLDHLD | 1 | Arabidopsis thaliana | Y450 | AC--WYLNYIK | 1 | Caenorhabditis elegans |
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