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Fusion gene ID: 16128 |
FusionGeneSummary for HEXB_FAM169A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HEXB_FAM169A | Fusion gene ID: 16128 | Hgene | Tgene | Gene symbol | HEXB | FAM169A | Gene ID | 3074 | 26049 |
| Gene name | hexosaminidase subunit beta | family with sequence similarity 169 member A | |
| Synonyms | ENC-1AS|HEL-248|HEL-S-111 | SLAP75 | |
| Cytomap | 5q13.3 | 5q13.3 | |
| 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 | soluble lamin-associated protein of 75 kDaprotein FAM169Asoluble lamina-associated protein of 75 kD | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | P07686 | Q9Y6X4 | |
| Ensembl transtripts involved in fusion gene | ENST00000511181, ENST00000261416, ENST00000513539, ENST00000509579, | ENST00000510496, ENST00000389156, ENST00000380515, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 2 X 2 X 2=8 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: HEXB [Title/Abstract] AND FAM169A [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. | ||
| * 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 |
| TCGA | RV | STAD | TCGA-BR-8373-01A | HEXB | chr5 | 74001145 | + | FAM169A | chr5 | 74078959 | - |
| * 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 |
| In-frame | ENST00000511181 | ENST00000510496 | HEXB | chr5 | 74001145 | + | FAM169A | chr5 | 74078959 | - |
| In-frame | ENST00000511181 | ENST00000389156 | HEXB | chr5 | 74001145 | + | FAM169A | chr5 | 74078959 | - |
| 5CDS-3UTR | ENST00000511181 | ENST00000380515 | HEXB | chr5 | 74001145 | + | FAM169A | chr5 | 74078959 | - |
| In-frame | ENST00000261416 | ENST00000510496 | HEXB | chr5 | 74001145 | + | FAM169A | chr5 | 74078959 | - |
| In-frame | ENST00000261416 | ENST00000389156 | HEXB | chr5 | 74001145 | + | FAM169A | chr5 | 74078959 | - |
| 5CDS-3UTR | ENST00000261416 | ENST00000380515 | HEXB | chr5 | 74001145 | + | FAM169A | chr5 | 74078959 | - |
| intron-3CDS | ENST00000513539 | ENST00000510496 | HEXB | chr5 | 74001145 | + | FAM169A | chr5 | 74078959 | - |
| intron-3CDS | ENST00000513539 | ENST00000389156 | HEXB | chr5 | 74001145 | + | FAM169A | chr5 | 74078959 | - |
| intron-3UTR | ENST00000513539 | ENST00000380515 | HEXB | chr5 | 74001145 | + | FAM169A | chr5 | 74078959 | - |
| intron-3CDS | ENST00000509579 | ENST00000510496 | HEXB | chr5 | 74001145 | + | FAM169A | chr5 | 74078959 | - |
| intron-3CDS | ENST00000509579 | ENST00000389156 | HEXB | chr5 | 74001145 | + | FAM169A | chr5 | 74078959 | - |
| intron-3UTR | ENST00000509579 | ENST00000380515 | HEXB | chr5 | 74001145 | + | FAM169A | chr5 | 74078959 | - |
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FusionProtFeatures for HEXB_FAM169A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HEXB | FAM169A |
| Responsible for the degradation of GM2 gangliosides, anda variety of other molecules containing terminal N-acetylhexosamines, in the brain and other tissues. |
| 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 |
| Tgene | >FAM169A | chr5:74001145 | chr5:74078959 | ENST00000380515 | - | 9 | 12 | 377_455 | 362 | 455 | Compositional bias | Note=Asp/Glu-rich |
| - 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 |
| Tgene | FAM169A | chr5:74001145 | chr5:74078959 | ENST00000389156 | - | 10 | 13 | 377_455 | 420 | 671 | Compositional bias | Note=Asp/Glu-rich |
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FusionGeneSequence for HEXB_FAM169A |
| 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_FAM169A |
| 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 |
| HEXB | HEXB, CSNK2B, VCPKMT, FBXO6, BNIP2, EZR, FH, GTF3C4, ALDH1B1, TATDN1, UBR7, HK1, HK2, IPO5, IPO9, PDCD10, PROSC, RPL22, TUFM, ABCE1, GRB2, STIM1, STIM2, SOD1, TSNAX, SMC6, HEXA | FAM169A | APOA1, LMNA, HIST1H2BG, INHBE |
| - 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_FAM169A |
| 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_FAM169A |
| 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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