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Fusion gene ID: 16129 |
FusionGeneSummary for HEXB_SSRP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HEXB_SSRP1 | Fusion gene ID: 16129 | Hgene | Tgene | Gene symbol | HEXB | SSRP1 | Gene ID | 3074 | 6749 |
| Gene name | hexosaminidase subunit beta | structure specific recognition protein 1 | |
| Synonyms | ENC-1AS|HEL-248|HEL-S-111 | FACT|FACT80|T160 | |
| Cytomap | 5q13.3 | 11q12.1 | |
| Type of gene | protein-coding | 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 | FACT complex subunit SSRP1FACT 80 kDa subunitFACTp80chromatin-specific transcription elongation factor 80 kDa subunitcisplatin-DNA SSRPfacilitates chromatin remodeling 80 kDa subunitfacilitates chromatin transcription complex 80 kDa subunitfacilita | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | P07686 | Q08945 | |
| Ensembl transtripts involved in fusion gene | ENST00000511181, ENST00000261416, ENST00000513539, ENST00000509579, | ENST00000278412, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 5 X 5 X 3=75 |
| # samples | 3 | 6 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(6/75*10)=-0.321928094887362 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HEXB [Title/Abstract] AND SSRP1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | AA253363 | HEXB | chr5 | 74017013 | - | SSRP1 | chr11 | 57095812 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 3UTR-3CDS | ENST00000511181 | ENST00000278412 | HEXB | chr5 | 74017013 | - | SSRP1 | chr11 | 57095812 | + |
| 3UTR-3CDS | ENST00000261416 | ENST00000278412 | HEXB | chr5 | 74017013 | - | SSRP1 | chr11 | 57095812 | + |
| 3UTR-3CDS | ENST00000513539 | ENST00000278412 | HEXB | chr5 | 74017013 | - | SSRP1 | chr11 | 57095812 | + |
| 3UTR-3CDS | ENST00000509579 | ENST00000278412 | HEXB | chr5 | 74017013 | - | SSRP1 | chr11 | 57095812 | + |
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FusionProtFeatures for HEXB_SSRP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HEXB | SSRP1 |
| Responsible for the degradation of GM2 gangliosides, anda variety of other molecules containing terminal N-acetylhexosamines, in the brain and other tissues. | Component of the FACT complex, a general chromatinfactor that acts to reorganize nucleosomes. The FACT complex isinvolved in multiple processes that require DNA as a template suchas mRNA elongation, DNA replication and DNA repair. Duringtranscription elongation the FACT complex acts as a histonechaperone that both destabilizes and restores nucleosomalstructure. It facilitates the passage of RNA polymerase II andtranscription by promoting the dissociation of one histone H2A-H2Bdimer from the nucleosome, then subsequently promotes thereestablishment of the nucleosome following the passage of RNApolymerase II. The FACT complex is probably also involved inphosphorylation of 'Ser-392' of p53/TP53 via its association withCK2 (casein kinase II). Binds specifically to double-stranded DNAand at low levels to DNA modified by the antitumor agentcisplatin. May potentiate cisplatin-induced cell death by blockingreplication and repair of modified DNA. Also acts as atranscriptional coactivator for p63/TP63.{ECO:0000269|PubMed:10912001, ECO:0000269|PubMed:11239457,ECO:0000269|PubMed:12374749, ECO:0000269|PubMed:12934006,ECO:0000269|PubMed:16713563, ECO:0000269|PubMed:9489704,ECO:0000269|PubMed:9566881, ECO:0000269|PubMed:9836642}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for HEXB_SSRP1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for HEXB_SSRP1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for HEXB_SSRP1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Hgene | HEXB | P07686 | DB00205 | Pyrimethamine | Beta-hexosaminidase subunit beta | small molecule | approved|investigational|vet_approved |
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RelatedDiseases for HEXB_SSRP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HEXB | C0036161 | Sandhoff Disease | 8 | CTD_human;UNIPROT |
| Hgene | HEXB | C2609414 | Acute kidney injury | 1 | CTD_human |
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