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Fusion gene ID: 15449 |
FusionGeneSummary for GRIP1_HSD17B6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GRIP1_HSD17B6 | Fusion gene ID: 15449 | Hgene | Tgene | Gene symbol | GRIP1 | HSD17B6 | Gene ID | 85329 | 8630 |
| Gene name | galectin 12 | hydroxysteroid 17-beta dehydrogenase 6 | |
| Synonyms | GAL12|GRIP1 | HSE|RODH|SDR9C6 | |
| Cytomap | 11q12.3 | 12q13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | galectin-12galectin-related inhibitor of proliferationlectin, galactoside-binding, soluble, 12testicular secretory protein Li 26 | 17-beta-hydroxysteroid dehydrogenase type 617-beta-HSD 617-beta-hydroxysteroid dehydrogenase type 6 variant 117-beta-hydroxysteroid dehydrogenase type 6 variant 217-beta-hydroxysteroid dehydrogenase type 6 variant 33(alpha->beta)-hydroxysteroid epime | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q9Y3R0 | O14756 | |
| Ensembl transtripts involved in fusion gene | ENST00000398016, ENST00000359742, ENST00000286445, ENST00000542021, | ENST00000555159, ENST00000555805, ENST00000554643, ENST00000554150, ENST00000556481, ENST00000322165, | |
| Fusion gene scores | * DoF score | 9 X 7 X 5=315 | 4 X 2 X 1=8 |
| # samples | 9 | 4 | |
| ** MAII score | log2(9/315*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/8*10)=2.32192809488736 | |
| Context | PubMed: GRIP1 [Title/Abstract] AND HSD17B6 [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 | GRIP1 | GO:0097193 | intrinsic apoptotic signaling pathway | 11435439 |
| 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 | SARC | TCGA-DX-AB2G-01A | GRIP1 | chr12 | 66856704 | - | HSD17B6 | chr12 | 57156982 | + |
| * 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 |
| 5CDS-intron | ENST00000398016 | ENST00000555159 | GRIP1 | chr12 | 66856704 | - | HSD17B6 | chr12 | 57156982 | + |
| 5CDS-intron | ENST00000398016 | ENST00000555805 | GRIP1 | chr12 | 66856704 | - | HSD17B6 | chr12 | 57156982 | + |
| 5CDS-intron | ENST00000398016 | ENST00000554643 | GRIP1 | chr12 | 66856704 | - | HSD17B6 | chr12 | 57156982 | + |
| 5CDS-5UTR | ENST00000398016 | ENST00000554150 | GRIP1 | chr12 | 66856704 | - | HSD17B6 | chr12 | 57156982 | + |
| 5CDS-3UTR | ENST00000398016 | ENST00000556481 | GRIP1 | chr12 | 66856704 | - | HSD17B6 | chr12 | 57156982 | + |
| 5CDS-intron | ENST00000398016 | ENST00000322165 | GRIP1 | chr12 | 66856704 | - | HSD17B6 | chr12 | 57156982 | + |
| 5CDS-intron | ENST00000359742 | ENST00000555159 | GRIP1 | chr12 | 66856704 | - | HSD17B6 | chr12 | 57156982 | + |
| 5CDS-intron | ENST00000359742 | ENST00000555805 | GRIP1 | chr12 | 66856704 | - | HSD17B6 | chr12 | 57156982 | + |
| 5CDS-intron | ENST00000359742 | ENST00000554643 | GRIP1 | chr12 | 66856704 | - | HSD17B6 | chr12 | 57156982 | + |
| 5CDS-5UTR | ENST00000359742 | ENST00000554150 | GRIP1 | chr12 | 66856704 | - | HSD17B6 | chr12 | 57156982 | + |
| 5CDS-3UTR | ENST00000359742 | ENST00000556481 | GRIP1 | chr12 | 66856704 | - | HSD17B6 | chr12 | 57156982 | + |
| 5CDS-intron | ENST00000359742 | ENST00000322165 | GRIP1 | chr12 | 66856704 | - | HSD17B6 | chr12 | 57156982 | + |
| 5CDS-intron | ENST00000286445 | ENST00000555159 | GRIP1 | chr12 | 66856704 | - | HSD17B6 | chr12 | 57156982 | + |
| 5CDS-intron | ENST00000286445 | ENST00000555805 | GRIP1 | chr12 | 66856704 | - | HSD17B6 | chr12 | 57156982 | + |
| 5CDS-intron | ENST00000286445 | ENST00000554643 | GRIP1 | chr12 | 66856704 | - | HSD17B6 | chr12 | 57156982 | + |
| 5CDS-5UTR | ENST00000286445 | ENST00000554150 | GRIP1 | chr12 | 66856704 | - | HSD17B6 | chr12 | 57156982 | + |
| 5CDS-3UTR | ENST00000286445 | ENST00000556481 | GRIP1 | chr12 | 66856704 | - | HSD17B6 | chr12 | 57156982 | + |
| 5CDS-intron | ENST00000286445 | ENST00000322165 | GRIP1 | chr12 | 66856704 | - | HSD17B6 | chr12 | 57156982 | + |
| intron-intron | ENST00000542021 | ENST00000555159 | GRIP1 | chr12 | 66856704 | - | HSD17B6 | chr12 | 57156982 | + |
| intron-intron | ENST00000542021 | ENST00000555805 | GRIP1 | chr12 | 66856704 | - | HSD17B6 | chr12 | 57156982 | + |
| intron-intron | ENST00000542021 | ENST00000554643 | GRIP1 | chr12 | 66856704 | - | HSD17B6 | chr12 | 57156982 | + |
| intron-5UTR | ENST00000542021 | ENST00000554150 | GRIP1 | chr12 | 66856704 | - | HSD17B6 | chr12 | 57156982 | + |
| intron-3UTR | ENST00000542021 | ENST00000556481 | GRIP1 | chr12 | 66856704 | - | HSD17B6 | chr12 | 57156982 | + |
| intron-intron | ENST00000542021 | ENST00000322165 | GRIP1 | chr12 | 66856704 | - | HSD17B6 | chr12 | 57156982 | + |
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FusionProtFeatures for GRIP1_HSD17B6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GRIP1 | HSD17B6 |
| May play a role as a localized scaffold for the assemblyof a multiprotein signaling complex and as mediator of thetrafficking of its binding partners at specific subcellularlocation in neurons (PubMed:10197531). Through complex formationwith NSG1, GRIA2 and STX12 controls the intracellular fate ofAMPAR and the endosomal sorting of the GRIA2 subunit towardrecycling and membrane targeting (By similarity).{ECO:0000250|UniProtKB:P97879, ECO:0000269|PubMed:10197531}. | NAD-dependent oxidoreductase with broad substratespecificity that shows both oxidative and reductive activity (invitro). Has 17-beta-hydroxysteroid dehydrogenase activity towardsvarious steroids (in vitro). Converts 5-alpha-androstan-3-alpha,17-beta-diol to androsterone and estradiol to estrone (invitro). Has 3-alpha-hydroxysteroid dehydrogenase activity towardsandrosterone (in vitro). Has retinol dehydrogenase activitytowards all-trans-retinol (in vitro). Can convert androsterone toepi-androsterone. Androsterone is first oxidized to 5-alpha-androstane-3,17-dione and then reduced to epi-andosterone. Can acton both C-19 and C-21 3-alpha-hydroxysteroids.{ECO:0000269|PubMed:10896656, ECO:0000269|PubMed:11360992,ECO:0000269|PubMed:11513953}. |
| 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 GRIP1_HSD17B6 |
| 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 GRIP1_HSD17B6 |
| 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 |
| GRIP1 | AR, GRIK1, GRIK2, PRLHR, GRIA4, GRIA3, GRIA2, GRIA1, GRM3, GRIPAP1, NUMBL, CSPG4, HDAC1, GRIP1, EHMT2, NR3C1, SMAD3, EP300, CARM1, HIST1H3A, PPARG, RXRA, THRA, ESR1, VDR, PRMT1, EFNA5, CREBBP, NCOA6, CTNNB1, UBE2I, PRKD2, LATS2, YWHAB, GPR37, FLII, FNTB, GRM7, GRM2, B9D2, CEP135, DZIP3, AGAP2 | HSD17B6 | ATP12A, NEFH, ATP2B1, ATP2B4, ATP2B2, ATP2B3, NME2P1, TATDN1, PRTFDC1, SNX3, KPRP, PPP1R14B, GNPNAT1 |
| - 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 GRIP1_HSD17B6 |
| 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 GRIP1_HSD17B6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | GRIP1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | HSD17B6 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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