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Fusion gene ID: 33617 |
FusionGeneSummary for SH3BGRL2_HMGCLL1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SH3BGRL2_HMGCLL1 | Fusion gene ID: 33617 | Hgene | Tgene | Gene symbol | SH3BGRL2 | HMGCLL1 | Gene ID | 83699 | 54511 |
| Gene name | SH3 domain binding glutamate rich protein like 2 | 3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1 | |
| Synonyms | - | bA418P12.1|er-cHL | |
| Cytomap | 6q14.1 | 6p12.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | SH3 domain-binding glutamic acid-rich-like protein 2SH3 domain binding glutamic acid-rich protein like 2fovea-associated SH3 domain-binding protein | 3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic3-hydroxymethyl-3-methylglutaryl-CoA lyase-like protein 13-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1endoplasmic reticulum 3-hydroxymethyl-3-methylglutaryl-CoA lyaseprobable 3-hydroxym | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9UJC5 | Q8TB92 | |
| Ensembl transtripts involved in fusion gene | ENST00000369838, | ENST00000274901, ENST00000398661, ENST00000370850, ENST00000508459, ENST00000308161, ENST00000428842, ENST00000358072, ENST00000507223, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 6 X 5 X 4=120 |
| # samples | 1 | 6 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SH3BGRL2 [Title/Abstract] AND HMGCLL1 [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 | HMGCLL1 | GO:0046951 | ketone body biosynthetic process | 22847177|22865860 |
| 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 | PRAD | TCGA-EJ-7782-01A | SH3BGRL2 | chr6 | 80341223 | + | HMGCLL1 | chr6 | 55381401 | - |
| * 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 | ENST00000369838 | ENST00000274901 | SH3BGRL2 | chr6 | 80341223 | + | HMGCLL1 | chr6 | 55381401 | - |
| In-frame | ENST00000369838 | ENST00000398661 | SH3BGRL2 | chr6 | 80341223 | + | HMGCLL1 | chr6 | 55381401 | - |
| 5CDS-intron | ENST00000369838 | ENST00000370850 | SH3BGRL2 | chr6 | 80341223 | + | HMGCLL1 | chr6 | 55381401 | - |
| 5CDS-intron | ENST00000369838 | ENST00000508459 | SH3BGRL2 | chr6 | 80341223 | + | HMGCLL1 | chr6 | 55381401 | - |
| 5CDS-intron | ENST00000369838 | ENST00000308161 | SH3BGRL2 | chr6 | 80341223 | + | HMGCLL1 | chr6 | 55381401 | - |
| 5CDS-intron | ENST00000369838 | ENST00000428842 | SH3BGRL2 | chr6 | 80341223 | + | HMGCLL1 | chr6 | 55381401 | - |
| 5CDS-intron | ENST00000369838 | ENST00000358072 | SH3BGRL2 | chr6 | 80341223 | + | HMGCLL1 | chr6 | 55381401 | - |
| 5CDS-intron | ENST00000369838 | ENST00000507223 | SH3BGRL2 | chr6 | 80341223 | + | HMGCLL1 | chr6 | 55381401 | - |
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FusionProtFeatures for SH3BGRL2_HMGCLL1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SH3BGRL2 | HMGCLL1 |
| Non-mitochondrial 3-hydroxymethyl-3-methylglutaryl-CoAlyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3-methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key stepin ketogenesis, the products of which support energy production innonhepatic animal tissues. {ECO:0000269|PubMed:22847177,ECO:0000269|PubMed:22865860}. |
| 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 | >HMGCLL1 | chr6:80341223 | chr6:55381401 | ENST00000308161 | - | 0 | 8 | 78_345 | -42 | 309 | Domain | Pyruvate carboxyltransferase |
| Tgene | >HMGCLL1 | chr6:80341223 | chr6:55381401 | ENST00000358072 | - | 0 | 2 | 78_345 | -14 | 54 | Domain | Pyruvate carboxyltransferase |
| - 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 | >SH3BGRL2 | chr6:80341223 | chr6:55381401 | ENST00000369838 | + | 1 | 4 | 61_67 | 15 | 108 | Motif | SH3-binding |
| Tgene | HMGCLL1 | chr6:80341223 | chr6:55381401 | ENST00000274901 | - | 2 | 9 | 78_345 | 99 | 341 | Domain | Pyruvate carboxyltransferase |
| Tgene | HMGCLL1 | chr6:80341223 | chr6:55381401 | ENST00000398661 | - | 3 | 10 | 78_345 | 129 | 371 | Domain | Pyruvate carboxyltransferase |
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FusionGeneSequence for SH3BGRL2_HMGCLL1 |
| 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_SH3BGRL2_ENST00000369838_chr6_80341223_+_HMGCLL1_ENST00000274901_chr6_55381401_-_257aa MVIRVFIASSSGFVAMADHTEVMKGIHQYPGVRYPVLTPNLQGFHHAVAAGATEISVFGAASESFSKKNINCSIEESMGKFEEVVKSARH MNIPARGYVSCALGCPYEGSITPQKVTEVSKRLYGMGCYEISLGDTIGVGTPGSMKRMLESVMKEIPPGALAVHCHDTYGQALANILTAL >In-frame_SH3BGRL2_ENST00000369838_chr6_80341223_+_HMGCLL1_ENST00000398661_chr6_55381401_-_257aa MVIRVFIASSSGFVAMADHTEVMKGIHQYPGVRYPVLTPNLQGFHHAVAAGATEISVFGAASESFSKKNINCSIEESMGKFEEVVKSARH MNIPARGYVSCALGCPYEGSITPQKVTEVSKRLYGMGCYEISLGDTIGVGTPGSMKRMLESVMKEIPPGALAVHCHDTYGQALANILTAL |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_SH3BGRL2_ENST00000369838_chr6_80341223_+_HMGCLL1_ENST00000274901_chr6_55381401_-_771nt ATGGTCATCCGCGTGTTCATCGCCTCTTCCTCGGGCTTCGTGGCGATGGCTGATCACACTGAAGTAATGAAAGGCATTCATCAATATCCA GGAGTTCGCTATCCTGTCCTTACTCCTAATCTTCAGGGTTTTCACCATGCTGTTGCTGCTGGAGCTACTGAGATATCAGTTTTTGGAGCT GCATCTGAATCCTTTAGCAAGAAGAATATTAACTGTTCCATTGAAGAAAGTATGGGAAAATTTGAGGAGGTTGTTAAGTCTGCAAGACAC ATGAATATTCCAGCACGAGGGTATGTGTCTTGTGCTCTGGGCTGTCCATATGAAGGAAGTATTACACCGCAAAAAGTGACAGAAGTGTCT AAGAGATTGTACGGCATGGGTTGTTATGAGATCTCTCTAGGAGACACAATTGGAGTGGGAACTCCAGGAAGTATGAAAAGAATGTTGGAA AGTGTGATGAAAGAAATCCCACCAGGTGCTCTTGCTGTTCACTGTCATGACACATACGGACAAGCCTTAGCAAATATCCTTACGGCCCTT CAGATGGGAATTAATGTGGTGGACTCCGCAGTATCCGGATTAGGTGGCTGCCCTTATGCAAAAGGTGCTTCTGGGAATGTAGCCACTGAG GATTTGATATATATGCTTAATGGCCTGGGGCTCAATACAGGTGTGAATCTATACAAAGTGATGGAAGCTGGTGACTTTATTTGCAAAGCT >In-frame_SH3BGRL2_ENST00000369838_chr6_80341223_+_HMGCLL1_ENST00000398661_chr6_55381401_-_771nt ATGGTCATCCGCGTGTTCATCGCCTCTTCCTCGGGCTTCGTGGCGATGGCTGATCACACTGAAGTAATGAAAGGCATTCATCAATATCCA GGAGTTCGCTATCCTGTCCTTACTCCTAATCTTCAGGGTTTTCACCATGCTGTTGCTGCTGGAGCTACTGAGATATCAGTTTTTGGAGCT GCATCTGAATCCTTTAGCAAGAAGAATATTAACTGTTCCATTGAAGAAAGTATGGGAAAATTTGAGGAGGTTGTTAAGTCTGCAAGACAC ATGAATATTCCAGCACGAGGGTATGTGTCTTGTGCTCTGGGCTGTCCATATGAAGGAAGTATTACACCGCAAAAAGTGACAGAAGTGTCT AAGAGATTGTACGGCATGGGTTGTTATGAGATCTCTCTAGGAGACACAATTGGAGTGGGAACTCCAGGAAGTATGAAAAGAATGTTGGAA AGTGTGATGAAAGAAATCCCACCAGGTGCTCTTGCTGTTCACTGTCATGACACATACGGACAAGCCTTAGCAAATATCCTTACGGCCCTT CAGATGGGAATTAATGTGGTGGACTCCGCAGTATCCGGATTAGGTGGCTGCCCTTATGCAAAAGGTGCTTCTGGGAATGTAGCCACTGAG GATTTGATATATATGCTTAATGGCCTGGGGCTCAATACAGGTGTGAATCTATACAAAGTGATGGAAGCTGGTGACTTTATTTGCAAAGCT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_SH3BGRL2_ENST00000369838_chr6_80341223_+_HMGCLL1_ENST00000274901_chr6_55381401_-_2243nt CCGGGCGGCGCTGGGCTTTTATCTGCGGACCCGCCGGGAGGGAGCCAGATCCCAGCGATCTTCCCCGACGGCAGCGCTTTACCCAGAGGC TGCCGGCGGCTCGTAGCTGGGTTCAGCTCTGCGTCCACGCCAGCCCGGAGCCCGGGGGGCAAGGGGTCTGTCCCGGGCGCAGCGAGAGGA TGGTCATCCGCGTGTTCATCGCCTCTTCCTCGGGCTTCGTGGCGATGGCTGATCACACTGAAGTAATGAAAGGCATTCATCAATATCCAG GAGTTCGCTATCCTGTCCTTACTCCTAATCTTCAGGGTTTTCACCATGCTGTTGCTGCTGGAGCTACTGAGATATCAGTTTTTGGAGCTG CATCTGAATCCTTTAGCAAGAAGAATATTAACTGTTCCATTGAAGAAAGTATGGGAAAATTTGAGGAGGTTGTTAAGTCTGCAAGACACA TGAATATTCCAGCACGAGGGTATGTGTCTTGTGCTCTGGGCTGTCCATATGAAGGAAGTATTACACCGCAAAAAGTGACAGAAGTGTCTA AGAGATTGTACGGCATGGGTTGTTATGAGATCTCTCTAGGAGACACAATTGGAGTGGGAACTCCAGGAAGTATGAAAAGAATGTTGGAAA GTGTGATGAAAGAAATCCCACCAGGTGCTCTTGCTGTTCACTGTCATGACACATACGGACAAGCCTTAGCAAATATCCTTACGGCCCTTC AGATGGGAATTAATGTGGTGGACTCCGCAGTATCCGGATTAGGTGGCTGCCCTTATGCAAAAGGTGCTTCTGGGAATGTAGCCACTGAGG ATTTGATATATATGCTTAATGGCCTGGGGCTCAATACAGGTGTGAATCTATACAAAGTGATGGAAGCTGGTGACTTTATTTGCAAAGCTG TGAATAAAACCACAAACTCTAAAGTAGCACAAGCCTCCTTCAATGCTTGACTTGAATGGATTTATGACGTACCGTTGAGAAGATCAATTT CAGCTACAATACTCATCTGAAAATCATTAATGCCAACTTGCTCTGATATGTGAAGTAATGGACAAGAGTGGGAAAAAAGAGATCCTTTTC AAAAAGATTATAACTGGATAGATTAAGTCAACAAAATGCAATATCAGTCATCAGGTAAATTGCAAGCTGAGGATAAATAATAAAACTTGT CATAATTTTGAACTTGGAAAAAAGTTTCTTTTGCTCTCATAGAAATAACTTTTTAATTTAGTAGATGGGAAAATTGACTTCGTATTTCCC CAAGTATCAAATACTGTGTTAATACTTAATCAAGCAGGCTTAACACTGTGTACATATTGTCAGTAGTTTATGAGCTCCTGCATAGTATGC AGAGTGTGTGGCCTCAATATTATACATTATGCCTCTGGATCTCAACTACTCATTTGCCAAGTCAGTTATGTTATGGACCAAAAGCCAAAT CTCCATCTGACCCTACATAATTTTAGCAATAGAACTTTTATATTTCAAGTATGGCTAACATCTGTTAACTATTTCAGTGACTTTATCTGG TTCCAAGAGGCTGTGGCCAATGGCAAGATGCCATATCCTGGAAACATATTACGACCTCCCATGTTTGTTACATGCATCCAGTTTACCACA CTTTACCTGTCATCAGTTATAGTAAAAACCAGCATGGTGTTACTCAACTATTGAGAAATTGTAAGCTATTTTTTTTTGTCCTGATGTCTA AATTGCAGTGATAAGAATAGGTTGATACATGTATCATAATCTACCTTTATAATTTTCAGATCACTTTCAAATTGCCCAAGGAAATATTGT GATCCTAAGAATATTAAGATAATTTTAGGTTAATGAAATACCCATTTTCCTTTTATTCATGGTGCTTTGCTTACCCACATTATTTTTTGG TGTATTTTTTAGTGGTTATTTTAGAAGTTGAAGTGGCTGAAATTTTGTCTATTGTCTTAGAATTGATTGCCAGAAATTGCAAGATGTAAT ATATCAAAGTCAGGGATGAGGAGCAGGAGGACTATTCAAGATAAACTTCTGTAACCTATGCATATTTTATGGGGGCAGTATTATTACAAA TGGATCTGAAATGTCAGTTCTAGTATTTAGAGAGACTTCTCTAATAATACCGGGTGATATTATCTTTGAGTAAATTTGAATATAAATTGA >In-frame_SH3BGRL2_ENST00000369838_chr6_80341223_+_HMGCLL1_ENST00000398661_chr6_55381401_-_2237nt CCGGGCGGCGCTGGGCTTTTATCTGCGGACCCGCCGGGAGGGAGCCAGATCCCAGCGATCTTCCCCGACGGCAGCGCTTTACCCAGAGGC TGCCGGCGGCTCGTAGCTGGGTTCAGCTCTGCGTCCACGCCAGCCCGGAGCCCGGGGGGCAAGGGGTCTGTCCCGGGCGCAGCGAGAGGA TGGTCATCCGCGTGTTCATCGCCTCTTCCTCGGGCTTCGTGGCGATGGCTGATCACACTGAAGTAATGAAAGGCATTCATCAATATCCAG GAGTTCGCTATCCTGTCCTTACTCCTAATCTTCAGGGTTTTCACCATGCTGTTGCTGCTGGAGCTACTGAGATATCAGTTTTTGGAGCTG CATCTGAATCCTTTAGCAAGAAGAATATTAACTGTTCCATTGAAGAAAGTATGGGAAAATTTGAGGAGGTTGTTAAGTCTGCAAGACACA TGAATATTCCAGCACGAGGGTATGTGTCTTGTGCTCTGGGCTGTCCATATGAAGGAAGTATTACACCGCAAAAAGTGACAGAAGTGTCTA AGAGATTGTACGGCATGGGTTGTTATGAGATCTCTCTAGGAGACACAATTGGAGTGGGAACTCCAGGAAGTATGAAAAGAATGTTGGAAA GTGTGATGAAAGAAATCCCACCAGGTGCTCTTGCTGTTCACTGTCATGACACATACGGACAAGCCTTAGCAAATATCCTTACGGCCCTTC AGATGGGAATTAATGTGGTGGACTCCGCAGTATCCGGATTAGGTGGCTGCCCTTATGCAAAAGGTGCTTCTGGGAATGTAGCCACTGAGG ATTTGATATATATGCTTAATGGCCTGGGGCTCAATACAGGTGTGAATCTATACAAAGTGATGGAAGCTGGTGACTTTATTTGCAAAGCTG TGAATAAAACCACAAACTCTAAAGTAGCACAAGCCTCCTTCAATGCTTGACTTGAATGGATTTATGACGTACCGTTGAGAAGATCAATTT CAGCTACAATACTCATCTGAAAATCATTAATGCCAACTTGCTCTGATATGTGAAGTAATGGACAAGAGTGGGAAAAAAGAGATCCTTTTC AAAAAGATTATAACTGGATAGATTAAGTCAACAAAATGCAATATCAGTCATCAGGTAAATTGCAAGCTGAGGATAAATAATAAAACTTGT CATAATTTTGAACTTGGAAAAAAGTTTCTTTTGCTCTCATAGAAATAACTTTTTAATTTAGTAGATGGGAAAATTGACTTCGTATTTCCC CAAGTATCAAATACTGTGTTAATACTTAATCAAGCAGGCTTAACACTGTGTACATATTGTCAGTAGTTTATGAGCTCCTGCATAGTATGC AGAGTGTGTGGCCTCAATATTATACATTATGCCTCTGGATCTCAACTACTCATTTGCCAAGTCAGTTATGTTATGGACCAAAAGCCAAAT CTCCATCTGACCCTACATAATTTTAGCAATAGAACTTTTATATTTCAAGTATGGCTAACATCTGTTAACTATTTCAGTGACTTTATCTGG TTCCAAGAGGCTGTGGCCAATGGCAAGATGCCATATCCTGGAAACATATTACGACCTCCCATGTTTGTTACATGCATCCAGTTTACCACA CTTTACCTGTCATCAGTTATAGTAAAAACCAGCATGGTGTTACTCAACTATTGAGAAATTGTAAGCTATTTTTTTTTGTCCTGATGTCTA AATTGCAGTGATAAGAATAGGTTGATACATGTATCATAATCTACCTTTATAATTTTCAGATCACTTTCAAATTGCCCAAGGAAATATTGT GATCCTAAGAATATTAAGATAATTTTAGGTTAATGAAATACCCATTTTCCTTTTATTCATGGTGCTTTGCTTACCCACATTATTTTTTGG TGTATTTTTTAGTGGTTATTTTAGAAGTTGAAGTGGCTGAAATTTTGTCTATTGTCTTAGAATTGATTGCCAGAAATTGCAAGATGTAAT ATATCAAAGTCAGGGATGAGGAGCAGGAGGACTATTCAAGATAAACTTCTGTAACCTATGCATATTTTATGGGGGCAGTATTATTACAAA TGGATCTGAAATGTCAGTTCTAGTATTTAGAGAGACTTCTCTAATAATACCGGGTGATATTATCTTTGAGTAAATTTGAATATAAATTGA |
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FusionGenePPI for SH3BGRL2_HMGCLL1 |
| 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 |
| SH3BGRL2 | PRDX1, UBE2D1, IQCB1, CFTR, PAN2 | HMGCLL1 | HMGCL, VPS13C |
| - 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 SH3BGRL2_HMGCLL1 |
| 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 SH3BGRL2_HMGCLL1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SH3BGRL2 | C3495559 | Juvenile arthritis | 1 | CTD_human |
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