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Fusion gene ID: 3805 |
FusionGeneSummary for BAHD1_KNSTRN |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BAHD1_KNSTRN | Fusion gene ID: 3805 | Hgene | Tgene | Gene symbol | BAHD1 | KNSTRN | Gene ID | 22893 | 90417 |
| Gene name | bromo adjacent homology domain containing 1 | kinetochore localized astrin (SPAG5) binding protein | |
| Synonyms | - | C15orf23|HSD11|SKAP|TRAF4AF1 | |
| Cytomap | 15q15.1 | 15q15.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | bromo adjacent homology domain-containing 1 proteinBAH domain-containing protein 1 | small kinetochore-associated proteinTRAF4 associated factor 1kinastrinkinetochore-localized astrin-binding proteinputative TRAF4-associated factor 1small kinetochore associated proteinsmall kinetochore-associated protein, kinetochore-localized astri | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | Q8TBE0 | Q9Y448 | |
| Ensembl transtripts involved in fusion gene | ENST00000561234, ENST00000416165, ENST00000560846, | ENST00000416151, ENST00000249776, ENST00000448395, ENST00000608100, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 1 X 1 X 1=1 |
| # samples | 4 | 1 | |
| ** MAII score | log2(4/8*10)=2.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: BAHD1 [Title/Abstract] AND KNSTRN [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 |
| TCGA | LD | LIHC | TCGA-2Y-A9H0-01A | BAHD1 | chr15 | 40733467 | + | KNSTRN | chr15 | 40678563 | + |
| * 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 |
| intron-3CDS | ENST00000561234 | ENST00000416151 | BAHD1 | chr15 | 40733467 | + | KNSTRN | chr15 | 40678563 | + |
| intron-3CDS | ENST00000561234 | ENST00000249776 | BAHD1 | chr15 | 40733467 | + | KNSTRN | chr15 | 40678563 | + |
| intron-3CDS | ENST00000561234 | ENST00000448395 | BAHD1 | chr15 | 40733467 | + | KNSTRN | chr15 | 40678563 | + |
| intron-3CDS | ENST00000561234 | ENST00000608100 | BAHD1 | chr15 | 40733467 | + | KNSTRN | chr15 | 40678563 | + |
| 5UTR-3CDS | ENST00000416165 | ENST00000416151 | BAHD1 | chr15 | 40733467 | + | KNSTRN | chr15 | 40678563 | + |
| 5UTR-3CDS | ENST00000416165 | ENST00000249776 | BAHD1 | chr15 | 40733467 | + | KNSTRN | chr15 | 40678563 | + |
| 5UTR-3CDS | ENST00000416165 | ENST00000448395 | BAHD1 | chr15 | 40733467 | + | KNSTRN | chr15 | 40678563 | + |
| 5UTR-3CDS | ENST00000416165 | ENST00000608100 | BAHD1 | chr15 | 40733467 | + | KNSTRN | chr15 | 40678563 | + |
| intron-3CDS | ENST00000560846 | ENST00000416151 | BAHD1 | chr15 | 40733467 | + | KNSTRN | chr15 | 40678563 | + |
| intron-3CDS | ENST00000560846 | ENST00000249776 | BAHD1 | chr15 | 40733467 | + | KNSTRN | chr15 | 40678563 | + |
| intron-3CDS | ENST00000560846 | ENST00000448395 | BAHD1 | chr15 | 40733467 | + | KNSTRN | chr15 | 40678563 | + |
| intron-3CDS | ENST00000560846 | ENST00000608100 | BAHD1 | chr15 | 40733467 | + | KNSTRN | chr15 | 40678563 | + |
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FusionProtFeatures for BAHD1_KNSTRN |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BAHD1 | KNSTRN |
| Heterochromatin protein that acts as a transcriptionrepressor and has the ability to promote the formation of largeheterochromatic domains. May act by recruiting heterochromatinproteins such as CBX5 (HP1 alpha), HDAC5 and MBD1. Represses IGF2expression by binding to its CpG-rich P3 promoter and recruitingheterochromatin proteins. At specific stages of Listeriainfection, in complex with TRIM28, corepresses interferon-stimulated genes, including IFNL1, IFNL2 and IFNL3.{ECO:0000269|PubMed:19666599, ECO:0000269|PubMed:21252314}. | Essential component of the mitotic spindle required forfaithful chromosome segregation and progression into anaphase(PubMed:19667759). Promotes the metaphase-to-anaphase transitionand is required for chromosome alignment, normal timing of sisterchromatid segregation, and maintenance of spindle polearchitecture (PubMed:19667759, PubMed:22110139). The astrin(SPAG5)-kinastrin (SKAP) complex promotes stable microtubule-kinetochore attachments (PubMed:21402792). Required forkinetochore oscillations and dynamics of microtubule plus-endsduring live cell mitosis, possibly by forming a link betweenspindle microtubule plus-ends and mitotic chromosomes to achievefaithful cell division (PubMed:23035123). May be involved in UV-induced apoptosis via its interaction with PRPF19; however, theseresults need additional evidences (PubMed:24718257).{ECO:0000269|PubMed:19667759, ECO:0000269|PubMed:21402792,ECO:0000269|PubMed:22110139, ECO:0000269|PubMed:23035123,ECO:0000305|PubMed:24718257}. |
| 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 BAHD1_KNSTRN |
| 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 BAHD1_KNSTRN |
| 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 |
| BAHD1 | MDFI, KHDRBS3, BEGAIN, KRTAP4-12, TRAF2, DVL2, DVL3, PRKAR1A, TRIM28, HDAC1, HDAC2, CBX3, KDM1A, SUV39H1, AES, GOLGA2, TRAF4, CALCOCO2, LZTS2, KRT40, KRTAP10-7, KRTAP10-1, KRTAP10-3, HIST1H2BA | KNSTRN | MPP6, MAPK6, CHMP1B, CLU, ENO1, SHMT2, MOV10, NXF1, NUPR1, ZDHHC17, USB1, CCDC101, CEP170, IFT57, C17orf59, CCDC67, PRPF19, HSPA8, HSPA1A, HSPA6, HSPB1, PCM1, SPICE1, CEP44, DCTN1, HSPA5, KIF22, DYNLL1, MAPRE1, SMEK1, SSSCA1, TACC1, CCDC89, SYCE3, IFT74, COPS7B |
| - 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 BAHD1_KNSTRN |
| 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 |
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RelatedDiseases for BAHD1_KNSTRN |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | KNSTRN | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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