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Fusion gene ID: 27340 |
FusionGeneSummary for PITPNM3_STX8 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PITPNM3_STX8 | Fusion gene ID: 27340 | Hgene | Tgene | Gene symbol | PITPNM3 | STX8 | Gene ID | 83394 | 9482 |
| Gene name | PITPNM family member 3 | syntaxin 8 | |
| Synonyms | ACKR6|CORD5|NIR1|RDGBA3 | CARB | |
| Cytomap | 17p13.2-p13.1 | 17p13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | membrane-associated phosphatidylinositol transfer protein 3NIR-1PITPnm 3PYK2 N-terminal domain-interacting receptor 1atypical chemokine receptor 6cone rod dystrophy 5phosphatidylinositol transfer protein, membrane-associated 3retinal degeneration B | syntaxin-8CIP-1-associated regulator of cyclin B | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9BZ71 | Q9UNK0 | |
| Ensembl transtripts involved in fusion gene | ENST00000421306, ENST00000262483, ENST00000576664, | ENST00000306357, ENST00000574431, ENST00000573373, | |
| Fusion gene scores | * DoF score | 4 X 3 X 4=48 | 9 X 4 X 7=252 |
| # samples | 4 | 9 | |
| ** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/252*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PITPNM3 [Title/Abstract] AND STX8 [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 | STX8 | GO:0045022 | early endosome to late endosome transport | 10564279 |
| Tgene | STX8 | GO:1903076 | regulation of protein localization to plasma membrane | 18570918 |
| 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 | KIRC | TCGA-BP-4983-01A | PITPNM3 | chr17 | 6406847 | - | STX8 | chr17 | 9281970 | - |
| * 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 | ENST00000421306 | ENST00000306357 | PITPNM3 | chr17 | 6406847 | - | STX8 | chr17 | 9281970 | - |
| In-frame | ENST00000421306 | ENST00000574431 | PITPNM3 | chr17 | 6406847 | - | STX8 | chr17 | 9281970 | - |
| 5CDS-intron | ENST00000421306 | ENST00000573373 | PITPNM3 | chr17 | 6406847 | - | STX8 | chr17 | 9281970 | - |
| In-frame | ENST00000262483 | ENST00000306357 | PITPNM3 | chr17 | 6406847 | - | STX8 | chr17 | 9281970 | - |
| In-frame | ENST00000262483 | ENST00000574431 | PITPNM3 | chr17 | 6406847 | - | STX8 | chr17 | 9281970 | - |
| 5CDS-intron | ENST00000262483 | ENST00000573373 | PITPNM3 | chr17 | 6406847 | - | STX8 | chr17 | 9281970 | - |
| intron-3CDS | ENST00000576664 | ENST00000306357 | PITPNM3 | chr17 | 6406847 | - | STX8 | chr17 | 9281970 | - |
| intron-3CDS | ENST00000576664 | ENST00000574431 | PITPNM3 | chr17 | 6406847 | - | STX8 | chr17 | 9281970 | - |
| intron-intron | ENST00000576664 | ENST00000573373 | PITPNM3 | chr17 | 6406847 | - | STX8 | chr17 | 9281970 | - |
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FusionProtFeatures for PITPNM3_STX8 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PITPNM3 | STX8 |
| Catalyzes the transfer of phosphatidylinositol andphosphatidylcholine between membranes (in vitro) (By similarity).Binds calcium ions. {ECO:0000250}. | Vesicle trafficking protein that functions in the earlysecretory pathway, possibly by mediating retrograde transport fromcis-Golgi membranes to the ER. |
| 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 | >STX8 | chr17:6406847 | chr17:9281970 | ENST00000306357 | - | 5 | 8 | 233_236 | 180 | 237 | Topological domain | Vesicular |
| Tgene | >STX8 | chr17:6406847 | chr17:9281970 | ENST00000306357 | - | 5 | 8 | 216_232 | 180 | 237 | Transmembrane | Helical%3B Anchor for type IV membrane protein |
| - 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 |
| Hgene | >PITPNM3 | chr17:6406847 | chr17:9281970 | ENST00000262483 | - | 4 | 20 | 279_327 | 91 | 975 | Compositional bias | Note=Ser-rich |
| Hgene | >PITPNM3 | chr17:6406847 | chr17:9281970 | ENST00000262483 | - | 4 | 20 | 390_594 | 91 | 975 | Domain | DDHD |
| Tgene | STX8 | chr17:6406847 | chr17:9281970 | ENST00000306357 | - | 5 | 8 | 42_65 | 180 | 237 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | STX8 | chr17:6406847 | chr17:9281970 | ENST00000306357 | - | 5 | 8 | 145_207 | 180 | 237 | Domain | t-SNARE coiled-coil homology |
| Tgene | STX8 | chr17:6406847 | chr17:9281970 | ENST00000306357 | - | 5 | 8 | 1_215 | 180 | 237 | Topological domain | Cytoplasmic |
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FusionGeneSequence for PITPNM3_STX8 |
| 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. |
| >In-frame_PITPNM3_ENST00000421306_chr17_6406847_-_STX8_ENST00000306357_chr17_9281970_-_112aa MAKAGRAGGPPPGGGAPWHLRNVLSDSVESSDDEFFDARGEGTAPCTSSILQEKQQIIDDLANLVENTDEKLRNETRRVNMVDRKSASCG >In-frame_PITPNM3_ENST00000421306_chr17_6406847_-_STX8_ENST00000574431_chr17_9281970_-_112aa MAKAGRAGGPPPGGGAPWHLRNVLSDSVESSDDEFFDARGEGTAPCTSSILQEKQQIIDDLANLVENTDEKLRNETRRVNMVDRKSASCG >In-frame_PITPNM3_ENST00000262483_chr17_6406847_-_STX8_ENST00000306357_chr17_9281970_-_148aa MAKAGRAGGPPPGGGAPWHLRNVLSDSVESSDDEFFDAREEMAEGKNAILIGMSQWNSNDLVEQIETMGKLDEHQGEGTAPCTSSILQEK >In-frame_PITPNM3_ENST00000262483_chr17_6406847_-_STX8_ENST00000574431_chr17_9281970_-_148aa MAKAGRAGGPPPGGGAPWHLRNVLSDSVESSDDEFFDAREEMAEGKNAILIGMSQWNSNDLVEQIETMGKLDEHQGEGTAPCTSSILQEK |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_PITPNM3_ENST00000421306_chr17_6406847_-_STX8_ENST00000306357_chr17_9281970_-_336nt ATGGCCAAGGCGGGCCGTGCAGGTGGTCCTCCCCCGGGCGGCGGTGCCCCCTGGCACCTTCGAAATGTCCTCAGTGACTCTGTGGAGAGC TCAGATGATGAATTCTTTGATGCCAGAGGAGAAGGGACCGCGCCGTGCACATCCAGCATCCTCCAGGAGAAGCAGCAGATAATTGACGAC CTTGCCAACCTAGTGGAGAACACAGATGAAAAACTTCGCAATGAAACCAGGCGGGTAAACATGGTGGACAGAAAGTCAGCCTCTTGTGGG >In-frame_PITPNM3_ENST00000421306_chr17_6406847_-_STX8_ENST00000574431_chr17_9281970_-_336nt ATGGCCAAGGCGGGCCGTGCAGGTGGTCCTCCCCCGGGCGGCGGTGCCCCCTGGCACCTTCGAAATGTCCTCAGTGACTCTGTGGAGAGC TCAGATGATGAATTCTTTGATGCCAGAGGAGAAGGGACCGCGCCGTGCACATCCAGCATCCTCCAGGAGAAGCAGCAGATAATTGACGAC CTTGCCAACCTAGTGGAGAACACAGATGAAAAACTTCGCAATGAAACCAGGCGGGTAAACATGGTGGACAGAAAGTCAGCCTCTTGTGGG >In-frame_PITPNM3_ENST00000262483_chr17_6406847_-_STX8_ENST00000306357_chr17_9281970_-_444nt ATGGCCAAGGCGGGCCGTGCAGGTGGTCCTCCCCCGGGCGGCGGTGCCCCCTGGCACCTTCGAAATGTCCTCAGTGACTCTGTGGAGAGC TCAGATGATGAATTCTTTGATGCCAGAGAGGAGATGGCTGAAGGGAAGAATGCCATCCTCATTGGGATGAGCCAGTGGAACTCCAATGAC CTCGTGGAGCAGATCGAGACCATGGGGAAACTGGACGAGCATCAAGGAGAAGGGACCGCGCCGTGCACATCCAGCATCCTCCAGGAGAAG CAGCAGATAATTGACGACCTTGCCAACCTAGTGGAGAACACAGATGAAAAACTTCGCAATGAAACCAGGCGGGTAAACATGGTGGACAGA >In-frame_PITPNM3_ENST00000262483_chr17_6406847_-_STX8_ENST00000574431_chr17_9281970_-_444nt ATGGCCAAGGCGGGCCGTGCAGGTGGTCCTCCCCCGGGCGGCGGTGCCCCCTGGCACCTTCGAAATGTCCTCAGTGACTCTGTGGAGAGC TCAGATGATGAATTCTTTGATGCCAGAGAGGAGATGGCTGAAGGGAAGAATGCCATCCTCATTGGGATGAGCCAGTGGAACTCCAATGAC CTCGTGGAGCAGATCGAGACCATGGGGAAACTGGACGAGCATCAAGGAGAAGGGACCGCGCCGTGCACATCCAGCATCCTCCAGGAGAAG CAGCAGATAATTGACGACCTTGCCAACCTAGTGGAGAACACAGATGAAAAACTTCGCAATGAAACCAGGCGGGTAAACATGGTGGACAGA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_PITPNM3_ENST00000421306_chr17_6406847_-_STX8_ENST00000306357_chr17_9281970_-_497nt GCCCGGGAAGCGCGAGGAGCGCGCGTAGCGCCGCCGGAGCCCGCCGCCCGGGACATGGCCAAGGCGGGCCGTGCAGGTGGTCCTCCCCCG GGCGGCGGTGCCCCCTGGCACCTTCGAAATGTCCTCAGTGACTCTGTGGAGAGCTCAGATGATGAATTCTTTGATGCCAGAGGAGAAGGG ACCGCGCCGTGCACATCCAGCATCCTCCAGGAGAAGCAGCAGATAATTGACGACCTTGCCAACCTAGTGGAGAACACAGATGAAAAACTT CGCAATGAAACCAGGCGGGTAAACATGGTGGACAGAAAGTCAGCCTCTTGTGGGATGATCATGGTGATTTTACTGCTGCTTGTGGCTATC GTGGTTGTTGCAGTCTGGCCGACCAACTGATGGCAGTAAAGAGACCACCAGCAGTGACACCTGCCAATGACAGATGCAAGCCCAACACCC >In-frame_PITPNM3_ENST00000421306_chr17_6406847_-_STX8_ENST00000574431_chr17_9281970_-_481nt GCCCGGGAAGCGCGAGGAGCGCGCGTAGCGCCGCCGGAGCCCGCCGCCCGGGACATGGCCAAGGCGGGCCGTGCAGGTGGTCCTCCCCCG GGCGGCGGTGCCCCCTGGCACCTTCGAAATGTCCTCAGTGACTCTGTGGAGAGCTCAGATGATGAATTCTTTGATGCCAGAGGAGAAGGG ACCGCGCCGTGCACATCCAGCATCCTCCAGGAGAAGCAGCAGATAATTGACGACCTTGCCAACCTAGTGGAGAACACAGATGAAAAACTT CGCAATGAAACCAGGCGGGTAAACATGGTGGACAGAAAGTCAGCCTCTTGTGGGATGATCATGGTGATTTTACTGCTGCTTGTGGCTATC GTGGTTGTTGCAGTCTGGCCGACCAACTGATGGCAGTAAAGAGACCACCAGCAGTGACACCTGCCAATGACAGATGCAAGCCCAACACCC >In-frame_PITPNM3_ENST00000262483_chr17_6406847_-_STX8_ENST00000306357_chr17_9281970_-_639nt GAGTCCGTTCGGGGCCGGAGGCGGTCGGGGCCGGGCCCGGGAAGCGCGAGGAGCGCGCGTAGCGCCGCCGGAGCCCGCCGCCCGGGACAT GGCCAAGGCGGGCCGTGCAGGTGGTCCTCCCCCGGGCGGCGGTGCCCCCTGGCACCTTCGAAATGTCCTCAGTGACTCTGTGGAGAGCTC AGATGATGAATTCTTTGATGCCAGAGAGGAGATGGCTGAAGGGAAGAATGCCATCCTCATTGGGATGAGCCAGTGGAACTCCAATGACCT CGTGGAGCAGATCGAGACCATGGGGAAACTGGACGAGCATCAAGGAGAAGGGACCGCGCCGTGCACATCCAGCATCCTCCAGGAGAAGCA GCAGATAATTGACGACCTTGCCAACCTAGTGGAGAACACAGATGAAAAACTTCGCAATGAAACCAGGCGGGTAAACATGGTGGACAGAAA GTCAGCCTCTTGTGGGATGATCATGGTGATTTTACTGCTGCTTGTGGCTATCGTGGTTGTTGCAGTCTGGCCGACCAACTGATGGCAGTA AAGAGACCACCAGCAGTGACACCTGCCAATGACAGATGCAAGCCCAACACCCTTTTGGTACGCAAAACCTGCTCTCAATAAATTCCCCCA >In-frame_PITPNM3_ENST00000262483_chr17_6406847_-_STX8_ENST00000574431_chr17_9281970_-_623nt GAGTCCGTTCGGGGCCGGAGGCGGTCGGGGCCGGGCCCGGGAAGCGCGAGGAGCGCGCGTAGCGCCGCCGGAGCCCGCCGCCCGGGACAT GGCCAAGGCGGGCCGTGCAGGTGGTCCTCCCCCGGGCGGCGGTGCCCCCTGGCACCTTCGAAATGTCCTCAGTGACTCTGTGGAGAGCTC AGATGATGAATTCTTTGATGCCAGAGAGGAGATGGCTGAAGGGAAGAATGCCATCCTCATTGGGATGAGCCAGTGGAACTCCAATGACCT CGTGGAGCAGATCGAGACCATGGGGAAACTGGACGAGCATCAAGGAGAAGGGACCGCGCCGTGCACATCCAGCATCCTCCAGGAGAAGCA GCAGATAATTGACGACCTTGCCAACCTAGTGGAGAACACAGATGAAAAACTTCGCAATGAAACCAGGCGGGTAAACATGGTGGACAGAAA GTCAGCCTCTTGTGGGATGATCATGGTGATTTTACTGCTGCTTGTGGCTATCGTGGTTGTTGCAGTCTGGCCGACCAACTGATGGCAGTA |
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FusionGenePPI for PITPNM3_STX8 |
| 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 |
| PITPNM3 | PTK2B, VAPA, VAPB | STX8 | VTI1B, CREB3, NAPA, VTI1A, STX7, VAMP8, HECTD3, NSF, CALM1, ATP6V1B1, CLN8, STX4, VAMP4, VAMP3, VAMP7, STX6, SRPRB, STX12, CLEC12A, STX3, CEP170, NAPG, TMEM171, STX18, DTNBP1, AP2M1, LPAR1, CEP164, TMEM17, TMEM216, ERRFI1, SEC22B, STX11, STXBP6, CLINT1, STAMBPL1, AP1S2, IPPK, GDPD5, ASPH, MED21, MAP7D2, GPR156, TRDN, LMNA |
| - 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 PITPNM3_STX8 |
| 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 PITPNM3_STX8 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PITPNM3 | C1832976 | Cone-Rod Dystrophy 5 | 1 | CTD_human;UNIPROT |
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