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Fusion gene ID: 8005 |
FusionGeneSummary for COL6A3_STK39 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: COL6A3_STK39 | Fusion gene ID: 8005 | Hgene | Tgene | Gene symbol | COL6A3 | STK39 | Gene ID | 1293 | 27347 |
| Gene name | collagen type VI alpha 3 chain | serine/threonine kinase 39 | |
| Synonyms | BTHLM1|DYT27|UCMD1 | DCHT|PASK|SPAK | |
| Cytomap | 2q37.3 | 2q24.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | collagen alpha-3(VI) chaincollagen VI, alpha-3 polypeptidecollagen, type VI, alpha 3 | STE20/SPS1-related proline-alanine-rich protein kinaseSTE20/SPS1 homologSte20-like protein kinaseproline-alanine-rich STE20-related kinaseserine threonine kinase 39 (STE20/SPS1 homolog, yeast)serine/threonine-protein kinase 39small intestine SPAK-li | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P12111 | Q9UEW8 | |
| Ensembl transtripts involved in fusion gene | ENST00000347401, ENST00000353578, ENST00000295550, ENST00000472056, ENST00000409809, ENST00000346358, ENST00000392004, ENST00000392003, ENST00000473258, | ENST00000487143, ENST00000355999, | |
| Fusion gene scores | * DoF score | 8 X 8 X 2=128 | 8 X 6 X 8=384 |
| # samples | 10 | 8 | |
| ** MAII score | log2(10/128*10)=-0.356143810225275 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/384*10)=-2.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: COL6A3 [Title/Abstract] AND STK39 [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 |
| Tgene | STK39 | GO:0018105 | peptidyl-serine phosphorylation | 24393035 |
| Tgene | STK39 | GO:0018107 | peptidyl-threonine phosphorylation | 24393035 |
| Tgene | STK39 | GO:0023014 | signal transduction by protein phosphorylation | 24393035 |
| Tgene | STK39 | GO:0035556 | intracellular signal transduction | 24393035 |
| Tgene | STK39 | GO:1901017 | negative regulation of potassium ion transmembrane transporter activity | 24393035 |
| Tgene | STK39 | GO:1901380 | negative regulation of potassium ion transmembrane transport | 24393035 |
| Tgene | STK39 | GO:1905408 | negative regulation of creatine transmembrane transporter activity | 25531585 |
| Tgene | STK39 | GO:2000650 | negative regulation of sodium ion transmembrane transporter activity | 25531585 |
| 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 | BQ330916 | COL6A3 | chr2 | 238266015 | + | STK39 | chr2 | 169068985 | + |
| * 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-intron | ENST00000347401 | ENST00000487143 | COL6A3 | chr2 | 238266015 | + | STK39 | chr2 | 169068985 | + |
| intron-intron | ENST00000347401 | ENST00000355999 | COL6A3 | chr2 | 238266015 | + | STK39 | chr2 | 169068985 | + |
| intron-intron | ENST00000353578 | ENST00000487143 | COL6A3 | chr2 | 238266015 | + | STK39 | chr2 | 169068985 | + |
| intron-intron | ENST00000353578 | ENST00000355999 | COL6A3 | chr2 | 238266015 | + | STK39 | chr2 | 169068985 | + |
| intron-intron | ENST00000295550 | ENST00000487143 | COL6A3 | chr2 | 238266015 | + | STK39 | chr2 | 169068985 | + |
| intron-intron | ENST00000295550 | ENST00000355999 | COL6A3 | chr2 | 238266015 | + | STK39 | chr2 | 169068985 | + |
| intron-intron | ENST00000472056 | ENST00000487143 | COL6A3 | chr2 | 238266015 | + | STK39 | chr2 | 169068985 | + |
| intron-intron | ENST00000472056 | ENST00000355999 | COL6A3 | chr2 | 238266015 | + | STK39 | chr2 | 169068985 | + |
| intron-intron | ENST00000409809 | ENST00000487143 | COL6A3 | chr2 | 238266015 | + | STK39 | chr2 | 169068985 | + |
| intron-intron | ENST00000409809 | ENST00000355999 | COL6A3 | chr2 | 238266015 | + | STK39 | chr2 | 169068985 | + |
| intron-intron | ENST00000346358 | ENST00000487143 | COL6A3 | chr2 | 238266015 | + | STK39 | chr2 | 169068985 | + |
| intron-intron | ENST00000346358 | ENST00000355999 | COL6A3 | chr2 | 238266015 | + | STK39 | chr2 | 169068985 | + |
| intron-intron | ENST00000392004 | ENST00000487143 | COL6A3 | chr2 | 238266015 | + | STK39 | chr2 | 169068985 | + |
| intron-intron | ENST00000392004 | ENST00000355999 | COL6A3 | chr2 | 238266015 | + | STK39 | chr2 | 169068985 | + |
| intron-intron | ENST00000392003 | ENST00000487143 | COL6A3 | chr2 | 238266015 | + | STK39 | chr2 | 169068985 | + |
| intron-intron | ENST00000392003 | ENST00000355999 | COL6A3 | chr2 | 238266015 | + | STK39 | chr2 | 169068985 | + |
| intron-intron | ENST00000473258 | ENST00000487143 | COL6A3 | chr2 | 238266015 | + | STK39 | chr2 | 169068985 | + |
| intron-intron | ENST00000473258 | ENST00000355999 | COL6A3 | chr2 | 238266015 | + | STK39 | chr2 | 169068985 | + |
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FusionProtFeatures for COL6A3_STK39 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| COL6A3 | STK39 |
| May act as a mediator of stress-activated signals.Mediates the inhibition of SLC4A4, SLC26A6 as well as CFTRactivities by the WNK scaffolds, probably through phosphorylation.{ECO:0000250|UniProtKB:Q9Z1W9}. |
| 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 COL6A3_STK39 |
| 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 COL6A3_STK39 |
| 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 COL6A3_STK39 |
| 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 COL6A3_STK39 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | COL6A3 | C1834674 | Bethlem myopathy | 4 | CTD_human;ORPHANET;UNIPROT |
| Hgene | COL6A3 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Hgene | COL6A3 | C0410179 | Scleroatonic muscular dystrophy | 1 | CTD_human;ORPHANET;UNIPROT |
| Hgene | COL6A3 | C4225336 | DYSTONIA 27 | 1 | ORPHANET;UNIPROT |
| Tgene | STK39 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Tgene | STK39 | C0020538 | Hypertensive disease | 1 | CTD_human |
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