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Fusion gene ID: 15186 |
FusionGeneSummary for GPC6_ITGBL1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: GPC6_ITGBL1 | Fusion gene ID: 15186 | Hgene | Tgene | Gene symbol | GPC6 | ITGBL1 | Gene ID | 10082 | 9358 |
Gene name | glypican 6 | integrin subunit beta like 1 | |
Synonyms | OMIMD1 | OSCP|TIED | |
Cytomap | 13q31.3-q32.1 | 13q33.1 | |
Type of gene | protein-coding | protein-coding | |
Description | glypican-6glypican proteoglycan 6 | integrin beta-like protein 1integrin beta like 1integrin, beta-like 1 (with EGF-like repeat domains)osteoblast-specific cysteine-rich proteinten integrin EGF-like repeat domain-containing protein | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | Q9Y625 | O95965 | |
Ensembl transtripts involved in fusion gene | ENST00000377047, | ENST00000376180, ENST00000545560, ENST00000376162, ENST00000415285, | |
Fusion gene scores | * DoF score | 5 X 7 X 8=280 | 2 X 1 X 2=4 |
# samples | 12 | 2 | |
** MAII score | log2(12/280*10)=-1.22239242133645 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
Context | PubMed: GPC6 [Title/Abstract] AND ITGBL1 [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 | GPC6 | GO:0016477 | cell migration | 21871017 |
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 | LD | LUSC | TCGA-LA-A446-01A | GPC6 | chr13 | 94197674 | + | ITGBL1 | chr13 | 102220050 | + |
* 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 | ENST00000377047 | ENST00000376180 | GPC6 | chr13 | 94197674 | + | ITGBL1 | chr13 | 102220050 | + |
5CDS-5UTR | ENST00000377047 | ENST00000545560 | GPC6 | chr13 | 94197674 | + | ITGBL1 | chr13 | 102220050 | + |
5CDS-5UTR | ENST00000377047 | ENST00000376162 | GPC6 | chr13 | 94197674 | + | ITGBL1 | chr13 | 102220050 | + |
5CDS-intron | ENST00000377047 | ENST00000415285 | GPC6 | chr13 | 94197674 | + | ITGBL1 | chr13 | 102220050 | + |
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FusionProtFeatures for GPC6_ITGBL1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
GPC6 | ITGBL1 |
Cell surface proteoglycan that bears heparan sulfate.Putative cell surface coreceptor for growth factors, extracellularmatrix proteins, proteases and anti-proteases (By similarity).Enhances migration and invasion of cancer cells through WNT5Asignaling. {ECO:0000250, ECO:0000269|PubMed:21871017}. |
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 | >ITGBL1 | chr13:94197674 | chr13:102220050 | ENST00000376180 | + | 1 | 11 | 143_184 | 105 | 495 | Repeat | Note=III |
Tgene | >ITGBL1 | chr13:94197674 | chr13:102220050 | ENST00000376180 | + | 1 | 11 | 185_230 | 105 | 495 | Repeat | Note=IV |
Tgene | >ITGBL1 | chr13:94197674 | chr13:102220050 | ENST00000376180 | + | 1 | 11 | 231_275 | 105 | 495 | Repeat | Note=V |
Tgene | >ITGBL1 | chr13:94197674 | chr13:102220050 | ENST00000376180 | + | 1 | 11 | 276_326 | 105 | 495 | Repeat | Note=VI |
Tgene | >ITGBL1 | chr13:94197674 | chr13:102220050 | ENST00000376180 | + | 1 | 11 | 327_367 | 105 | 495 | Repeat | Note=VII |
Tgene | >ITGBL1 | chr13:94197674 | chr13:102220050 | ENST00000376180 | + | 1 | 11 | 368_414 | 105 | 495 | Repeat | Note=VIII |
Tgene | >ITGBL1 | chr13:94197674 | chr13:102220050 | ENST00000376180 | + | 1 | 11 | 415_454 | 105 | 495 | Repeat | Note=IX |
Tgene | >ITGBL1 | chr13:94197674 | chr13:102220050 | ENST00000376180 | + | 1 | 11 | 455_494 | 105 | 495 | Repeat | Note=X |
- 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 |
Tgene | ITGBL1 | chr13:94197674 | chr13:102220050 | ENST00000376180 | + | 1 | 11 | 51_494 | 105 | 495 | Region | Note=Cysteine-rich tandem repeats |
Tgene | ITGBL1 | chr13:94197674 | chr13:102220050 | ENST00000376180 | + | 1 | 11 | 51_95 | 105 | 495 | Repeat | Note=I |
Tgene | ITGBL1 | chr13:94197674 | chr13:102220050 | ENST00000376180 | + | 1 | 11 | 96_142 | 105 | 495 | Repeat | Note=II |
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FusionGeneSequence for GPC6_ITGBL1 |
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_GPC6_ENST00000377047_chr13_94197674_+_ITGBL1_ENST00000376180_chr13_102220050_+_496aa MPSWIGAVILPLLGLLLSLPAGADVKARSCGEVRQAYGAKGFSLADIPYQEIAGEHLRICPQEYTCCTTEMEDKLSQQSKLEFENLVEET SHFVRTTFVSRHKKFDGHGKCDCGKCKCDQGWYGDACQYPTNCDLTKKKSNQMCKNSQDIICSNAGTCHCGRCKCDNSDGSGLVYGKFCE CDDRECIDDETEEICGGHGKCYCGNCYCKAGWHGDKCEFQCDITPWESKRRCTSPDGKICSNRGTCVCGECTCHDVDPTGDWGDIHGDTC ECDERDCRAVYDRYSDDFCSGHGQCNCGRCDCKAGWYGKKCEHPQSCTLSAEESIRKCQGSSDLPCSGRGKCECGKCTCYPPGDRRVYGK TCECDDRRCEDLDGVVCGGHGTCSCGRCVCERGWFGKLCQHPRKCNMTEEQSKNLCESADGILCSGKGSCHCGKCICSAEEWYISGEFCD |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_GPC6_ENST00000377047_chr13_94197674_+_ITGBL1_ENST00000376180_chr13_102220050_+_1488nt ATGCCTTCTTGGATCGGGGCTGTGATTCTTCCCCTCTTGGGGCTGCTGCTCTCCCTCCCCGCCGGGGCGGATGTGAAGGCTCGGAGCTGC GGAGAGGTCCGCCAGGCGTACGGTGCCAAGGGATTCAGCCTGGCGGACATCCCCTACCAGGAGATCGCAGGGGAACACTTAAGAATCTGT CCTCAGGAATATACATGCTGCACCACAGAAATGGAAGACAAGTTAAGCCAACAAAGCAAACTCGAATTTGAAAACCTTGTGGAAGAGACA AGCCATTTTGTGCGCACCACTTTTGTGTCCAGGCATAAGAAATTTGACGGCCATGGTAAGTGTGACTGTGGCAAGTGCAAGTGTGACCAG GGATGGTATGGGGATGCTTGCCAGTACCCAACTAACTGTGACTTGACAAAGAAGAAAAGTAACCAAATGTGCAAGAATTCACAAGACATC ATCTGCTCTAATGCAGGTACATGTCACTGTGGCAGGTGTAAGTGTGATAATTCAGATGGAAGTGGACTTGTGTATGGTAAATTTTGTGAG TGTGACGATAGAGAATGCATAGACGATGAAACAGAAGAAATATGTGGAGGCCATGGGAAGTGTTACTGTGGAAACTGCTACTGCAAGGCT GGTTGGCATGGAGATAAATGTGAATTCCAGTGCGATATCACCCCCTGGGAAAGCAAGCGAAGATGCACGTCTCCAGATGGCAAAATCTGC AGTAACAGAGGGACTTGTGTATGTGGTGAATGTACCTGTCACGATGTTGATCCGACTGGGGACTGGGGAGATATTCATGGGGACACCTGT GAATGTGATGAGAGGGACTGTAGAGCTGTCTATGACCGATATTCTGATGACTTCTGTTCAGGTCATGGACAGTGTAATTGCGGAAGATGT GACTGCAAAGCAGGCTGGTATGGGAAGAAGTGTGAGCACCCACAGTCCTGCACGCTGTCAGCTGAGGAGAGCATCAGGAAGTGCCAGGGA AGCTCGGATCTGCCTTGCTCTGGGAGGGGTAAATGTGAATGTGGCAAATGCACCTGCTATCCTCCAGGAGATCGCCGGGTGTATGGCAAG ACTTGTGAGTGTGATGATCGCCGCTGTGAAGACCTCGATGGTGTGGTCTGTGGAGGCCACGGCACATGTTCCTGTGGTCGCTGTGTTTGT GAGAGAGGATGGTTTGGAAAGCTCTGCCAACATCCGCGGAAGTGTAACATGACGGAAGAACAAAGCAAGAATCTGTGTGAATCAGCAGAT GGCATATTGTGCTCGGGGAAGGGTTCTTGTCATTGTGGGAAGTGCATTTGTTCTGCTGAAGAGTGGTATATTTCTGGGGAGTTCTGTGAC TGTGATGACAGAGACTGCGACAAACATGATGGTCTCATTTGTACAGGGAATGGAATATGTAGCTGTGGAAACTGTGAATGCTGGGATGGA |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_GPC6_ENST00000377047_chr13_94197674_+_ITGBL1_ENST00000376180_chr13_102220050_+_2893nt CCAGGATTTCTCTCTTCCTATTTCAGGAGGACTCTCACAGGCTCCCACAGCCTGTGTTAAGCTGAGGTTTCCCCTAGATCTCGTATATCC CCAACACATACCTCCACGCACACACATCCCCAAGAACCTCGAGCTCACACCAACAGACACACGCGCGCATACACACTCGCTCTCGCTTGT CCATCTCCCTCCCGGGGGAGCCGGCGCGCGCTCCCACCTTTGCCGCACACTCCGGCGAGCCGAGCCCGCAGCGCTCCAGGATTCTGCGGC TCGGAACTCGGATTGCAGCTCTGAACCCCCATGGTGGTTTTTTAAACACTTCTTTTCCTTCTCTTCCTCGTTTTGATTGCACCGTTTCCA TCTGGGGGCTAGAGGAGCAAGGCAGCAGCCTTCCCAGCCAGCCCTTGTTGGCTTGCCATCGTCCATCTGGCTTATAAAAGTTTGCTGAGC GCAGTCCAGAGGGCTGCGCTGCTCGTCCCCTCGGCTGGCAGAAGGGGGTGACGCTGGGCAGCGGCGAGGAGCGCGCCGCTGCCTCTGGCG GGCTTTCGGCTTGAGGGGCAAGGTGAAGAGCGCACCGGCCGTGGGGTTTACCGAGCTGGATTTGTATGTTGCACCATGCCTTCTTGGATC GGGGCTGTGATTCTTCCCCTCTTGGGGCTGCTGCTCTCCCTCCCCGCCGGGGCGGATGTGAAGGCTCGGAGCTGCGGAGAGGTCCGCCAG GCGTACGGTGCCAAGGGATTCAGCCTGGCGGACATCCCCTACCAGGAGATCGCAGGGGAACACTTAAGAATCTGTCCTCAGGAATATACA TGCTGCACCACAGAAATGGAAGACAAGTTAAGCCAACAAAGCAAACTCGAATTTGAAAACCTTGTGGAAGAGACAAGCCATTTTGTGCGC ACCACTTTTGTGTCCAGGCATAAGAAATTTGACGGCCATGGTAAGTGTGACTGTGGCAAGTGCAAGTGTGACCAGGGATGGTATGGGGAT GCTTGCCAGTACCCAACTAACTGTGACTTGACAAAGAAGAAAAGTAACCAAATGTGCAAGAATTCACAAGACATCATCTGCTCTAATGCA GGTACATGTCACTGTGGCAGGTGTAAGTGTGATAATTCAGATGGAAGTGGACTTGTGTATGGTAAATTTTGTGAGTGTGACGATAGAGAA TGCATAGACGATGAAACAGAAGAAATATGTGGAGGCCATGGGAAGTGTTACTGTGGAAACTGCTACTGCAAGGCTGGTTGGCATGGAGAT AAATGTGAATTCCAGTGCGATATCACCCCCTGGGAAAGCAAGCGAAGATGCACGTCTCCAGATGGCAAAATCTGCAGTAACAGAGGGACT TGTGTATGTGGTGAATGTACCTGTCACGATGTTGATCCGACTGGGGACTGGGGAGATATTCATGGGGACACCTGTGAATGTGATGAGAGG GACTGTAGAGCTGTCTATGACCGATATTCTGATGACTTCTGTTCAGGTCATGGACAGTGTAATTGCGGAAGATGTGACTGCAAAGCAGGC TGGTATGGGAAGAAGTGTGAGCACCCACAGTCCTGCACGCTGTCAGCTGAGGAGAGCATCAGGAAGTGCCAGGGAAGCTCGGATCTGCCT TGCTCTGGGAGGGGTAAATGTGAATGTGGCAAATGCACCTGCTATCCTCCAGGAGATCGCCGGGTGTATGGCAAGACTTGTGAGTGTGAT GATCGCCGCTGTGAAGACCTCGATGGTGTGGTCTGTGGAGGCCACGGCACATGTTCCTGTGGTCGCTGTGTTTGTGAGAGAGGATGGTTT GGAAAGCTCTGCCAACATCCGCGGAAGTGTAACATGACGGAAGAACAAAGCAAGAATCTGTGTGAATCAGCAGATGGCATATTGTGCTCG GGGAAGGGTTCTTGTCATTGTGGGAAGTGCATTTGTTCTGCTGAAGAGTGGTATATTTCTGGGGAGTTCTGTGACTGTGATGACAGAGAC TGCGACAAACATGATGGTCTCATTTGTACAGGGAATGGAATATGTAGCTGTGGAAACTGTGAATGCTGGGATGGATGGAATGGAAATGCA TGTGAAATCTGGCTTGGCTCAGAATATCCTTAACAATTACATGAGAGAGGTCTGGATTCTTATTTTTTCTGGGCCATTAGAACAGATAAA TGCGAAGGAAACCATGTATATTCACCACTAGGACAGGTTAAAAAGACCATTGTATGTTTTTCTATTTCTGAATTACGAATGAAATCCGAG TACCTATTAGAAATGAGTTATGCAAATTTAGATGCAAATAACATTAGAAAAAAAAGATTCTTCCATAATTAACATAAGTGGTTCCTAACG AGAGCAATTTTTCCACCCAAAAGTCATTTGGCAACATCTACAGACAATTTTGATTGTCACACTGGGTCGGGTAGGAAGGTATGCTGCAGA CATTTGGTGGGTAGAGGCCAGGGATGCTGCTGAGCATCCCGCAGTGTACAGGACAGCCCCCAAACAAGGAATTATCCAGCCCCAAATGCC AATAGGGCTCAAACTGAGAAACATTGAGTTATATGGCTATTAGAAATCCACATTCTTACACAAGAAAGACCATATTAGAATCTAAGGAAA ACATGCATATTCACATTAATTAATCGATCAGATTTTTCCAGAATTCCGTATCAGTCACCATTTTAATATGGGGACAATGAAGACAAGCAC ACAGGAGGTAGAATATCAGAGTGGGGCTGGATCAAGGGCAAAAACTGGTCATTAAGTCATCTGACATTAAATCATTTAGCCACTAAGTTA TTTGTCTACTCTCACTTTAAACTCACCAAAGAAGATTCTCTTAAAGAAATTATGAAAAATGTACAATTTAACATTTTAAATAAATAGTGA |
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FusionGenePPI for GPC6_ITGBL1 |
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 |
GPC6 | FGF1, TMEM30A, GPR183, OGFOD3, ZACN, CHST8, PLTP, SCARA3, GPC4, CAMKV, DLX4, MRPS7 | ITGBL1 |
- 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 GPC6_ITGBL1 |
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 GPC6_ITGBL1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | GPC6 | C0206762 | Limb Deformities, Congenital | 1 | CTD_human |
Hgene | GPC6 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Hgene | GPC6 | C1850318 | Omodysplasia type 1 | 1 | CTD_human;ORPHANET |