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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 15186

FusionGeneSummary for GPC6_ITGBL1

check button Fusion gene summary
Fusion gene informationFusion gene name: GPC6_ITGBL1
Fusion gene ID: 15186
HgeneTgene
Gene symbol

GPC6

ITGBL1

Gene ID

10082

9358

Gene nameglypican 6integrin subunit beta like 1
SynonymsOMIMD1OSCP|TIED
Cytomap

13q31.3-q32.1

13q33.1

Type of geneprotein-codingprotein-coding
Descriptionglypican-6glypican proteoglycan 6integrin 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 date2018052220180523
UniProtAcc

Q9Y625

O95965

Ensembl transtripts involved in fusion geneENST00000377047, ENST00000376180, 
ENST00000545560, ENST00000376162, 
ENST00000415285, 
Fusion gene scores* DoF score5 X 7 X 8=2802 X 1 X 2=4
# samples 122
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneGPC6

GO:0016477

cell migration

21871017


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDLUSCTCGA-LA-A446-01AGPC6chr13

94197674

+ITGBL1chr13

102220050

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000377047ENST00000376180GPC6chr13

94197674

+ITGBL1chr13

102220050

+
5CDS-5UTRENST00000377047ENST00000545560GPC6chr13

94197674

+ITGBL1chr13

102220050

+
5CDS-5UTRENST00000377047ENST00000376162GPC6chr13

94197674

+ITGBL1chr13

102220050

+
5CDS-intronENST00000377047ENST00000415285GPC6chr13

94197674

+ITGBL1chr13

102220050

+

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FusionProtFeatures for GPC6_ITGBL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GPC6

Q9Y625

ITGBL1

O95965

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}.

check buttonRetention 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

download page

.

* 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.
>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneITGBL1chr13:94197674chr13:102220050ENST00000376180+111143_184105495RepeatNote=III
TgeneITGBL1chr13:94197674chr13:102220050ENST00000376180+111185_230105495RepeatNote=IV
TgeneITGBL1chr13:94197674chr13:102220050ENST00000376180+111231_275105495RepeatNote=V
TgeneITGBL1chr13:94197674chr13:102220050ENST00000376180+111276_326105495RepeatNote=VI
TgeneITGBL1chr13:94197674chr13:102220050ENST00000376180+111327_367105495RepeatNote=VII
TgeneITGBL1chr13:94197674chr13:102220050ENST00000376180+111368_414105495RepeatNote=VIII
TgeneITGBL1chr13:94197674chr13:102220050ENST00000376180+111415_454105495RepeatNote=IX
TgeneITGBL1chr13:94197674chr13:102220050ENST00000376180+111455_494105495RepeatNote=X

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneITGBL1chr13:94197674chr13:102220050ENST00000376180+11151_494105495RegionNote=Cysteine-rich tandem repeats
TgeneITGBL1chr13:94197674chr13:102220050ENST00000376180+11151_95105495RepeatNote=I
TgeneITGBL1chr13:94197674chr13:102220050ENST00000376180+11196_142105495RepeatNote=II


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FusionGeneSequence for GPC6_ITGBL1


check button 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
MPSWIGAVILPLLGLLLSLPAGADVKARSCGEVRQAYGAKGFSLADIPYQEIAGEHLRICPQETTCCTTEMEDKLSQQSKLEFENLVEET
SHFVRTTFVSRHKKFDGHGKCDCGKCKCDQGWTGDACQYPTNCDLTKKKSNQMCKNSQDIICSNAGTCHCGRCKCDNSDGSGLVTGKFCE
CDDRECIDDETEEICGGHGKCYCGNCYCKAGWHGDKCEFQCDITPWESKRRCTSPDGKICSNRGTCVCGECTCHDVDPTGDWGDIHGDTC
ECDERDCRAVTDRTSDDFCSGHGQCNCGRCDCKAGWTGKKCEHPQSCTLSAEESIRKCQGSSDLPCSGRGKCECGKCTCTPPGDRRVTGK
TCECDDRRCEDLDGVVCGGHGTCSCGRCVCERGWFGKLCQHPRKCNMTEEQSKNLCESADGILCSGKGSCHCGKCICSAEEWTISGEFCD


* 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
GPC6FGF1, TMEM30A, GPR183, OGFOD3, ZACN, CHST8, PLTP, SCARA3, GPC4, CAMKV, DLX4, MRPS7ITGBL1


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for GPC6_ITGBL1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for GPC6_ITGBL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGPC6C0206762Limb Deformities, Congenital1CTD_human
HgeneGPC6C0376634Craniofacial Abnormalities1CTD_human
HgeneGPC6C1850318Omodysplasia type 11CTD_human;ORPHANET