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Fusion gene ID: 38118 |
FusionGeneSummary for TIMP2_AUTS2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TIMP2_AUTS2 | Fusion gene ID: 38118 | Hgene | Tgene | Gene symbol | TIMP2 | AUTS2 | Gene ID | 7077 | 26053 |
| Gene name | TIMP metallopeptidase inhibitor 2 | AUTS2, activator of transcription and developmental regulator | |
| Synonyms | CSC-21K|DDC8 | FBRSL2|MRD26 | |
| Cytomap | 17q25.3 | 7q11.22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | metalloproteinase inhibitor 2testicular secretory protein Li 57tissue inhibitor of metalloproteinases 2 | autism susceptibility gene 2 proteinautism susceptibility candidate 2autism-related protein 1 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P16035 | Q8WXX7 | |
| Ensembl transtripts involved in fusion gene | ENST00000585421, ENST00000536189, ENST00000262768, ENST00000586057, | ENST00000406775, ENST00000342771, ENST00000403018, ENST00000489774, | |
| Fusion gene scores | * DoF score | 9 X 12 X 6=648 | 18 X 16 X 6=1728 |
| # samples | 14 | 20 | |
| ** MAII score | log2(14/648*10)=-2.21056698593966 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(20/1728*10)=-3.11103131238874 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TIMP2 [Title/Abstract] AND AUTS2 [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 |
| Hgene | TIMP2 | GO:1905049 | negative regulation of metallopeptidase activity | 9573338 |
| Tgene | AUTS2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 25519132 |
| Tgene | AUTS2 | GO:0051571 | positive regulation of histone H3-K4 methylation | 25519132 |
| Tgene | AUTS2 | GO:2000620 | positive regulation of histone H4-K16 acetylation | 25519132 |
| 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 | BE938099 | TIMP2 | chr17 | 76850083 | - | AUTS2 | chr7 | 69760290 | + |
| * 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 | ENST00000585421 | ENST00000406775 | TIMP2 | chr17 | 76850083 | - | AUTS2 | chr7 | 69760290 | + |
| intron-intron | ENST00000585421 | ENST00000342771 | TIMP2 | chr17 | 76850083 | - | AUTS2 | chr7 | 69760290 | + |
| intron-intron | ENST00000585421 | ENST00000403018 | TIMP2 | chr17 | 76850083 | - | AUTS2 | chr7 | 69760290 | + |
| intron-intron | ENST00000585421 | ENST00000489774 | TIMP2 | chr17 | 76850083 | - | AUTS2 | chr7 | 69760290 | + |
| intron-intron | ENST00000536189 | ENST00000406775 | TIMP2 | chr17 | 76850083 | - | AUTS2 | chr7 | 69760290 | + |
| intron-intron | ENST00000536189 | ENST00000342771 | TIMP2 | chr17 | 76850083 | - | AUTS2 | chr7 | 69760290 | + |
| intron-intron | ENST00000536189 | ENST00000403018 | TIMP2 | chr17 | 76850083 | - | AUTS2 | chr7 | 69760290 | + |
| intron-intron | ENST00000536189 | ENST00000489774 | TIMP2 | chr17 | 76850083 | - | AUTS2 | chr7 | 69760290 | + |
| intron-intron | ENST00000262768 | ENST00000406775 | TIMP2 | chr17 | 76850083 | - | AUTS2 | chr7 | 69760290 | + |
| intron-intron | ENST00000262768 | ENST00000342771 | TIMP2 | chr17 | 76850083 | - | AUTS2 | chr7 | 69760290 | + |
| intron-intron | ENST00000262768 | ENST00000403018 | TIMP2 | chr17 | 76850083 | - | AUTS2 | chr7 | 69760290 | + |
| intron-intron | ENST00000262768 | ENST00000489774 | TIMP2 | chr17 | 76850083 | - | AUTS2 | chr7 | 69760290 | + |
| intron-intron | ENST00000586057 | ENST00000406775 | TIMP2 | chr17 | 76850083 | - | AUTS2 | chr7 | 69760290 | + |
| intron-intron | ENST00000586057 | ENST00000342771 | TIMP2 | chr17 | 76850083 | - | AUTS2 | chr7 | 69760290 | + |
| intron-intron | ENST00000586057 | ENST00000403018 | TIMP2 | chr17 | 76850083 | - | AUTS2 | chr7 | 69760290 | + |
| intron-intron | ENST00000586057 | ENST00000489774 | TIMP2 | chr17 | 76850083 | - | AUTS2 | chr7 | 69760290 | + |
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FusionProtFeatures for TIMP2_AUTS2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TIMP2 | AUTS2 |
| Complexes with metalloproteinases (such as collagenases)and irreversibly inactivates them by binding to their catalyticzinc cofactor. Known to act on MMP-1, MMP-2, MMP-3, MMP-7, MMP-8,MMP-9, MMP-10, MMP-13, MMP-14, MMP-15, MMP-16 and MMP-19.{ECO:0000269|PubMed:11710594, ECO:0000269|PubMed:2554304,ECO:0000269|PubMed:2793861}. | Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain thetranscriptionally repressive state of many genes, including Hoxgenes, throughout development. PcG PRC1 complex acts via chromatinremodeling and modification of histones; it mediatesmonoubiquitination of histone H2A 'Lys-119', rendering chromatinheritably changed in its expressibility (PubMed:25519132). ThePRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP andAUTS2 has decreased histone H2A ubiquitination activity, due tothe phosphorylation of RNF2 by CSNK2B (PubMed:25519132). As aconsequence, the complex mediates transcriptional activation(PubMed:25519132). In the cytoplasm, plays a role in axon anddendrite elongation and in neuronal migration during embryonicbrain development. Promotes reorganization of the actincytoskeleton, lamellipodia formation and neurite elongation viaits interaction with RAC guanine nucleotide exchange factors,which then leads to the activation of RAC1 (By similarity).{ECO:0000250|UniProtKB:A0A087WPF7, ECO:0000269|PubMed:25519132}. |
| 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 TIMP2_AUTS2 |
| 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 TIMP2_AUTS2 |
| 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 TIMP2_AUTS2 |
| 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 TIMP2_AUTS2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TIMP2 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Hgene | TIMP2 | C0006663 | Calcinosis | 1 | CTD_human |
| Hgene | TIMP2 | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| Hgene | TIMP2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | TIMP2 | C0027051 | Myocardial Infarction | 1 | CTD_human |
| Hgene | TIMP2 | C0028797 | Occupational Diseases | 1 | CTD_human |
| Hgene | TIMP2 | C0032226 | Pleural Diseases | 1 | CTD_human |
| Tgene | AUTS2 | C0036341 | Schizophrenia | 2 | PSYGENET |
| Tgene | AUTS2 | C0014544 | Epilepsy | 1 | CTD_human |
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