|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 12329 |
FusionGeneSummary for EXT1_SAMD12 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EXT1_SAMD12 | Fusion gene ID: 12329 | Hgene | Tgene | Gene symbol | EXT1 | SAMD12 | Gene ID | 2131 | 401474 |
| Gene name | exostosin glycosyltransferase 1 | sterile alpha motif domain containing 12 | |
| Synonyms | EXT|LGCR|LGS|TRPS2|TTV | - | |
| Cytomap | 8q24.11 | 8q24.11-q24.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | exostosin-1Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferaseLanger-Giedion syndrome chromosome regionN-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferaseexostoses (multiple) 1glucuronosyl-N-acetylgluc | sterile alpha motif domain-containing protein 12SAM domain-containing protein 12 | |
| Modification date | 20180522 | 20180521 | |
| UniProtAcc | Q16394 | Q8N8I0 | |
| Ensembl transtripts involved in fusion gene | ENST00000378204, | ENST00000409003, ENST00000314727, ENST00000527515, | |
| Fusion gene scores | * DoF score | 11 X 8 X 12=1056 | 7 X 6 X 9=378 |
| # samples | 19 | 13 | |
| ** MAII score | log2(19/1056*10)=-2.47453851102751 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/378*10)=-1.53987461119262 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EXT1 [Title/Abstract] AND SAMD12 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not 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 |
| Hgene | EXT1 | GO:0006024 | glycosaminoglycan biosynthetic process | 12907669 |
| Hgene | EXT1 | GO:0015012 | heparan sulfate proteoglycan biosynthetic process | 9620772|10639137 |
| Hgene | EXT1 | GO:0033692 | cellular polysaccharide biosynthetic process | 12907669 |
| 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 | BRCA | TCGA-A7-A6VY-01A | EXT1 | chr8 | 119122324 | - | SAMD12 | chr8 | 119209971 | - |
| TCGA | RV | HNSC | TCGA-CN-5370-01A | EXT1 | chr8 | 119122324 | - | SAMD12 | chr8 | 119209971 | - |
| TCGA | RV | LUSC | TCGA-L3-A524-01A | EXT1 | chr8 | 119122324 | - | SAMD12 | chr8 | 119391939 | - |
| TCGA | RV | PAAD | TCGA-HZ-8637-01A | EXT1 | chr8 | 119122324 | - | SAMD12 | chr8 | 119209971 | - |
| TCGA | RV | PRAD | TCGA-EJ-7123-01A | EXT1 | chr8 | 119122324 | - | SAMD12 | chr8 | 119209971 | - |
| TCGA | RV | SARC | TCGA-IW-A3M5-01A | EXT1 | chr8 | 119122324 | - | SAMD12 | chr8 | 119209971 | - |
| TCGA | RV | UCS | TCGA-N7-A4Y8-01A | EXT1 | chr8 | 119122324 | - | SAMD12 | chr8 | 119209971 | - |
| * 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 | ENST00000378204 | ENST00000409003 | EXT1 | chr8 | 119122324 | - | SAMD12 | chr8 | 119209971 | - |
| 5CDS-intron | ENST00000378204 | ENST00000314727 | EXT1 | chr8 | 119122324 | - | SAMD12 | chr8 | 119209971 | - |
| 5CDS-intron | ENST00000378204 | ENST00000527515 | EXT1 | chr8 | 119122324 | - | SAMD12 | chr8 | 119209971 | - |
| Frame-shift | ENST00000378204 | ENST00000409003 | EXT1 | chr8 | 119122324 | - | SAMD12 | chr8 | 119391939 | - |
| Frame-shift | ENST00000378204 | ENST00000314727 | EXT1 | chr8 | 119122324 | - | SAMD12 | chr8 | 119391939 | - |
| 5CDS-intron | ENST00000378204 | ENST00000527515 | EXT1 | chr8 | 119122324 | - | SAMD12 | chr8 | 119391939 | - |
Top |
FusionProtFeatures for EXT1_SAMD12 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EXT1 | SAMD12 |
| Glycosyltransferase required for the biosynthesis ofheparan-sulfate. The EXT1/EXT2 complex possesses substantiallyhigher glycosyltransferase activity than EXT1 or EXT2 alone.Appears to be a tumor suppressor. Required for the exosomalrelease of SDCBP, CD63 and syndecan (PubMed:22660413).{ECO:0000269|PubMed:11518722, ECO:0000269|PubMed:22660413}. |
| 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 |
| Hgene | EXT1 | chr8:119122324 | chr8:119209971 | ENST00000378204 | - | 1 | 11 | 1_7 | 320 | 747 | Topological domain | Cytoplasmic |
| Hgene | EXT1 | chr8:119122324 | chr8:119209971 | ENST00000378204 | - | 1 | 11 | 8_28 | 320 | 747 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
| Tgene | >SAMD12 | chr8:119122324 | chr8:119209971 | ENST00000314727 | - | 0 | 4 | 77_143 | -46 | 202 | Domain | SAM |
| - 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 | >EXT1 | chr8:119122324 | chr8:119209971 | ENST00000378204 | - | 1 | 11 | 544_549 | 320 | 747 | Region | Substrate binding |
| Hgene | >EXT1 | chr8:119122324 | chr8:119209971 | ENST00000378204 | - | 1 | 11 | 565_567 | 320 | 747 | Region | Substrate binding |
| Hgene | >EXT1 | chr8:119122324 | chr8:119209971 | ENST00000378204 | - | 1 | 11 | 650_654 | 320 | 747 | Region | Substrate binding |
| Hgene | >EXT1 | chr8:119122324 | chr8:119209971 | ENST00000378204 | - | 1 | 11 | 688_701 | 320 | 747 | Region | Substrate binding |
| Hgene | >EXT1 | chr8:119122324 | chr8:119209971 | ENST00000378204 | - | 1 | 11 | 29_746 | 320 | 747 | Topological domain | Lumenal |
Top |
FusionGeneSequence for EXT1_SAMD12 |
| 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). |
Top |
FusionGenePPI for EXT1_SAMD12 |
| 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 |
| EXT1 | CNTF, OSTF1, EXT1, EXT2, TRAP1, PEX19, SYNE4, PLAUR, PTCH1, ERGIC3, NAAA, SCGB2A2, B4GAT1, MPPE1, CRP, SYP, GAA, SLC39A5, TFR2, NRROS, TOR1AIP2, CD79B, FBXW7, NOTCH1 | SAMD12 |
| - 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 |
Top |
RelatedDrugs for EXT1_SAMD12 |
| 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 |
Top |
RelatedDiseases for EXT1_SAMD12 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | EXT1 | C0015306 | Hereditary Multiple Exostoses | 8 | CTD_human;HPO;ORPHANET;UNIPROT |
| Hgene | EXT1 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Hgene | EXT1 | C0008479 | Chondrosarcoma | 1 | CTD_human;HPO;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|