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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for HEXB |
 Gene summary |
| Gene information | Gene symbol | HEXB | Gene ID | 3074 |
| Gene name | hexosaminidase subunit beta | |
| Synonyms | ENC-1AS|HEL-248|HEL-S-111 | |
| Cytomap | 5q13.3 | |
| Type of gene | protein-coding | |
| Description | beta-hexosaminidase subunit betaHCC-7N-acetyl-beta-glucosaminidase subunit betabeta-N-acetylhexosaminidase subunit betabeta-hexosaminidase beta-subunitcervical cancer proto-oncogene 7 proteinepididymis luminal protein 248epididymis secretory protei | |
| Modification date | 20180519 | |
| UniProtAcc | P07686 | |
| Context | PubMed: HEXB [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Exon skipping events across known transcript of Ensembl for HEXB from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for HEXB |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for HEXB |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_435689 | 5 | 73985152:73985298:73989463:73989529:73992517:73992564 | 73989463:73989529 | ENSG00000049860.9 | ENST00000513079.1,ENST00000261416.7,ENST00000511181.1 |
| exon_skip_435693 | 5 | 73992820:73992931:74001043:74001145:74009330:74009460 | 74001043:74001145 | ENSG00000049860.9 | ENST00000261416.7,ENST00000511181.1 |
| exon_skip_435696 | 5 | 74009362:74009460:74011334:74011515:74012411:74012498 | 74011334:74011515 | ENSG00000049860.9 | ENST00000504459.1,ENST00000261416.7,ENST00000511181.1 |
| exon_skip_435702 | 5 | 74011470:74011515:74012411:74012498:74014115:74014188 | 74012411:74012498 | ENSG00000049860.9 | ENST00000504459.1,ENST00000261416.7,ENST00000511181.1 |
| exon_skip_435704 | 5 | 74014115:74014188:74014621:74014796:74016252:74016343 | 74014621:74014796 | ENSG00000049860.9 | ENST00000504459.1,ENST00000513336.1,ENST00000261416.7,ENST00000511181.1,ENST00000503312.1 |
| exon_skip_435706 | 5 | 74014115:74014188:74014733:74014796:74016252:74016343 | 74014733:74014796 | ENSG00000049860.9 | ENST00000513539.1 |
| exon_skip_435708 | 5 | 74014733:74014796:74016252:74016343:74016467:74016572 | 74016252:74016343 | ENSG00000049860.9 | ENST00000504459.1,ENST00000513539.1,ENST00000513336.1,ENST00000261416.7,ENST00000511181.1,ENST00000503312.1 |
| exon_skip_435711 | 5 | 74016312:74016343:74016467:74016572:74016942:74017112 | 74016467:74016572 | ENSG00000049860.9 | ENST00000509579.1,ENST00000513539.1,ENST00000513336.1,ENST00000261416.7,ENST00000511181.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for HEXB |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_435689 | 5 | 73985152:73985298:73989463:73989529:73992517:73992564 | 73989463:73989529 | ENSG00000049860.9 | ENST00000511181.1,ENST00000261416.7,ENST00000513079.1 |
| exon_skip_435693 | 5 | 73992820:73992931:74001043:74001145:74009330:74009460 | 74001043:74001145 | ENSG00000049860.9 | ENST00000511181.1,ENST00000261416.7 |
| exon_skip_435696 | 5 | 74009362:74009460:74011334:74011515:74012411:74012498 | 74011334:74011515 | ENSG00000049860.9 | ENST00000511181.1,ENST00000261416.7,ENST00000504459.1 |
| exon_skip_435702 | 5 | 74011470:74011515:74012411:74012498:74014115:74014188 | 74012411:74012498 | ENSG00000049860.9 | ENST00000511181.1,ENST00000261416.7,ENST00000504459.1 |
| exon_skip_435704 | 5 | 74014115:74014188:74014621:74014796:74016252:74016343 | 74014621:74014796 | ENSG00000049860.9 | ENST00000511181.1,ENST00000261416.7,ENST00000504459.1,ENST00000513336.1,ENST00000503312.1 |
| exon_skip_435706 | 5 | 74014115:74014188:74014733:74014796:74016252:74016343 | 74014733:74014796 | ENSG00000049860.9 | ENST00000513539.1 |
| exon_skip_435708 | 5 | 74014733:74014796:74016252:74016343:74016467:74016572 | 74016252:74016343 | ENSG00000049860.9 | ENST00000511181.1,ENST00000261416.7,ENST00000504459.1,ENST00000513336.1,ENST00000503312.1,ENST00000513539.1 |
| exon_skip_435711 | 5 | 74016312:74016343:74016467:74016572:74016942:74017112 | 74016467:74016572 | ENSG00000049860.9 | ENST00000511181.1,ENST00000261416.7,ENST00000513336.1,ENST00000513539.1,ENST00000509579.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for HEXB |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000261416 | 74011334 | 74011515 | Frame-shift |
| ENST00000261416 | 74014621 | 74014796 | Frame-shift |
| ENST00000261416 | 74016252 | 74016343 | Frame-shift |
| ENST00000261416 | 73989463 | 73989529 | In-frame |
| ENST00000261416 | 74001043 | 74001145 | In-frame |
| ENST00000261416 | 74012411 | 74012498 | In-frame |
| ENST00000261416 | 74016467 | 74016572 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000261416 | 74011334 | 74011515 | Frame-shift |
| ENST00000261416 | 74014621 | 74014796 | Frame-shift |
| ENST00000261416 | 74016252 | 74016343 | Frame-shift |
| ENST00000261416 | 73989463 | 73989529 | In-frame |
| ENST00000261416 | 74001043 | 74001145 | In-frame |
| ENST00000261416 | 74012411 | 74012498 | In-frame |
| ENST00000261416 | 74016467 | 74016572 | In-frame |
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Infer the effects of exon skipping event on protein functional features for HEXB |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000261416 | 1918 | 556 | 73989463 | 73989529 | 563 | 628 | 148 | 170 |
| ENST00000261416 | 1918 | 556 | 74001043 | 74001145 | 787 | 888 | 223 | 257 |
| ENST00000261416 | 1918 | 556 | 74012411 | 74012498 | 1200 | 1286 | 361 | 389 |
| ENST00000261416 | 1918 | 556 | 74016467 | 74016572 | 1626 | 1730 | 503 | 537 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000261416 | 1918 | 556 | 73989463 | 73989529 | 563 | 628 | 148 | 170 |
| ENST00000261416 | 1918 | 556 | 74001043 | 74001145 | 787 | 888 | 223 | 257 |
| ENST00000261416 | 1918 | 556 | 74012411 | 74012498 | 1200 | 1286 | 361 | 389 |
| ENST00000261416 | 1918 | 556 | 74016467 | 74016572 | 1626 | 1730 | 503 | 537 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P07686 | 148 | 170 | 149 | 153 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NOW |
| P07686 | 148 | 170 | 155 | 164 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NOW |
| P07686 | 148 | 170 | 122 | 556 | Chain | ID=PRO_0000012003;Note=Beta-hexosaminidase subunit beta |
| P07686 | 148 | 170 | 122 | 311 | Chain | ID=PRO_0000012004;Note=Beta-hexosaminidase subunit beta chain B |
| P07686 | 148 | 170 | 165 | 178 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NOW |
| P07686 | 223 | 257 | 233 | 237 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NOW |
| P07686 | 223 | 257 | 122 | 556 | Chain | ID=PRO_0000012003;Note=Beta-hexosaminidase subunit beta |
| P07686 | 223 | 257 | 122 | 311 | Chain | ID=PRO_0000012004;Note=Beta-hexosaminidase subunit beta chain B |
| P07686 | 223 | 257 | 216 | 228 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NOW |
| P07686 | 223 | 257 | 253 | 258 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NOW |
| P07686 | 223 | 257 | 255 | 255 | Natural variant | ID=VAR_011704;Note=In GM2G2. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9856491;Dbxref=PMID:9856491 |
| P07686 | 361 | 389 | 122 | 556 | Chain | ID=PRO_0000012003;Note=Beta-hexosaminidase subunit beta |
| P07686 | 361 | 389 | 315 | 556 | Chain | ID=PRO_0000012005;Note=Beta-hexosaminidase subunit beta chain A |
| P07686 | 361 | 389 | 359 | 362 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NOW |
| P07686 | 361 | 389 | 365 | 373 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NOW |
| P07686 | 361 | 389 | 380 | 397 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NOW |
| P07686 | 503 | 537 | 122 | 556 | Chain | ID=PRO_0000012003;Note=Beta-hexosaminidase subunit beta |
| P07686 | 503 | 537 | 315 | 556 | Chain | ID=PRO_0000012005;Note=Beta-hexosaminidase subunit beta chain A |
| P07686 | 503 | 537 | 534 | 551 | Disulfide bond | . |
| P07686 | 503 | 537 | 505 | 514 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NOW |
| P07686 | 503 | 537 | 522 | 538 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NOW |
| P07686 | 503 | 537 | 504 | 504 | Natural variant | ID=VAR_011705;Note=In GM2G2. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9694901;Dbxref=PMID:9694901 |
| P07686 | 503 | 537 | 505 | 505 | Natural variant | ID=VAR_003253;Note=In GM2G2. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8357844,ECO:0000269|PubMed:8950198;Dbxref=PMID:8357844,PMID:8950198 |
| P07686 | 503 | 537 | 534 | 534 | Natural variant | ID=VAR_003254;Note=In GM2G2%3B infantile type. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7626071;Dbxref=PMID:7626071 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P07686 | 148 | 170 | 149 | 153 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NOW |
| P07686 | 148 | 170 | 155 | 164 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NOW |
| P07686 | 148 | 170 | 122 | 556 | Chain | ID=PRO_0000012003;Note=Beta-hexosaminidase subunit beta |
| P07686 | 148 | 170 | 122 | 311 | Chain | ID=PRO_0000012004;Note=Beta-hexosaminidase subunit beta chain B |
| P07686 | 148 | 170 | 165 | 178 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NOW |
| P07686 | 223 | 257 | 233 | 237 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NOW |
| P07686 | 223 | 257 | 122 | 556 | Chain | ID=PRO_0000012003;Note=Beta-hexosaminidase subunit beta |
| P07686 | 223 | 257 | 122 | 311 | Chain | ID=PRO_0000012004;Note=Beta-hexosaminidase subunit beta chain B |
| P07686 | 223 | 257 | 216 | 228 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NOW |
| P07686 | 223 | 257 | 253 | 258 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NOW |
| P07686 | 223 | 257 | 255 | 255 | Natural variant | ID=VAR_011704;Note=In GM2G2. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9856491;Dbxref=PMID:9856491 |
| P07686 | 361 | 389 | 122 | 556 | Chain | ID=PRO_0000012003;Note=Beta-hexosaminidase subunit beta |
| P07686 | 361 | 389 | 315 | 556 | Chain | ID=PRO_0000012005;Note=Beta-hexosaminidase subunit beta chain A |
| P07686 | 361 | 389 | 359 | 362 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NOW |
| P07686 | 361 | 389 | 365 | 373 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NOW |
| P07686 | 361 | 389 | 380 | 397 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NOW |
| P07686 | 503 | 537 | 122 | 556 | Chain | ID=PRO_0000012003;Note=Beta-hexosaminidase subunit beta |
| P07686 | 503 | 537 | 315 | 556 | Chain | ID=PRO_0000012005;Note=Beta-hexosaminidase subunit beta chain A |
| P07686 | 503 | 537 | 534 | 551 | Disulfide bond | . |
| P07686 | 503 | 537 | 505 | 514 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NOW |
| P07686 | 503 | 537 | 522 | 538 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NOW |
| P07686 | 503 | 537 | 504 | 504 | Natural variant | ID=VAR_011705;Note=In GM2G2. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9694901;Dbxref=PMID:9694901 |
| P07686 | 503 | 537 | 505 | 505 | Natural variant | ID=VAR_003253;Note=In GM2G2. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8357844,ECO:0000269|PubMed:8950198;Dbxref=PMID:8357844,PMID:8950198 |
| P07686 | 503 | 537 | 534 | 534 | Natural variant | ID=VAR_003254;Note=In GM2G2%3B infantile type. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7626071;Dbxref=PMID:7626071 |
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SNVs in the skipped exons for HEXB |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_435696 | 74011335 | 74011515 | 74011387 | 74011387 | Frame_Shift_Del | T | - | p.S93fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_435696 | 74011335 | 74011515 | 74011439 | 74011439 | Frame_Shift_Del | T | - | p.F112fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_435702 | 74012412 | 74012498 | 74012424 | 74012424 | Frame_Shift_Del | A | - | p.P140fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_435702 | 74012412 | 74012498 | 74012466 | 74012466 | Frame_Shift_Del | T | - | p.D154fs |
| SKCM | TCGA-D3-A3C7-06 | exon_skip_435689 | 73989464 | 73989529 | 73989524 | 73989524 | Nonsense_Mutation | T | A | p.L169* |
| SKCM | TCGA-D3-A3C7-06 | exon_skip_435689 | 73989464 | 73989529 | 73989524 | 73989524 | Nonsense_Mutation | T | A | p.L169X |
| ESCA | TCGA-JY-A6FD-01 | exon_skip_435696 | 74011335 | 74011515 | 74011457 | 74011457 | Nonsense_Mutation | G | T | p.E342X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| SNU407_LARGE_INTESTINE | 74011335 | 74011515 | 74011438 | 74011439 | Frame_Shift_Ins | - | T | p.F336fs |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74011335 | 74011515 | 74011467 | 74011467 | Missense_Mutation | C | T | p.P345L |
| SNU407_LARGE_INTESTINE | 74011335 | 74011515 | 74011479 | 74011479 | Missense_Mutation | T | C | p.I349T |
| RH36_SOFT_TISSUE | 74014622 | 74014796 | 74014701 | 74014701 | Missense_Mutation | T | G | p.F441C |
| SNU1076_UPPER_AERODIGESTIVE_TRACT | 74016468 | 74016572 | 74016472 | 74016472 | Missense_Mutation | C | T | p.R505W |
| WIL2NS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74016468 | 74016572 | 74016496 | 74016496 | Missense_Mutation | C | G | p.L513V |
| SNU1040_LARGE_INTESTINE | 73989464 | 73989529 | 73989526 | 73989526 | Nonsense_Mutation | C | T | p.R170* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HEXB |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HEXB |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HEXB |
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RelatedDrugs for HEXB |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P07686 | DB00205 | Pyrimethamine | Beta-hexosaminidase subunit beta | small molecule | approved|investigational|vet_approved |
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RelatedDiseases for HEXB |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| HEXB | C0036161 | Sandhoff Disease | 8 | CTD_human;UNIPROT |
| HEXB | C2609414 | Acute kidney injury | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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