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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: 14808

FusionGeneSummary for GML_C8orf47

check button Fusion gene summary
Fusion gene informationFusion gene name: GML_C8orf47
Fusion gene ID: 14808
HgeneTgene
Gene symbol

GML

C8orf47

Gene ID

2765

203111

Gene nameglycosylphosphatidylinositol anchored molecule likeglutamate rich 5
SynonymsLY6DLC8orf47
Cytomap

8q24.3

8q22.2

Type of geneprotein-codingprotein-coding
Descriptionglycosyl-phosphatidylinositol-anchored molecule-like proteinGPI anchored molecule like proteinGlycosylphosphatidylinositol-anchored molecule-like proteinglycosylphosphatidylinositol anchored molecule like proteinglutamate-rich protein 5
Modification date2018051920180519
UniProtAcc

Q99445

Ensembl transtripts involved in fusion geneENST00000220940, ENST00000318528, 
ENST00000545282, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 2 X 3=18
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: GML [Title/Abstract] AND C8orf47 [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

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
TCGARVLUADTCGA-67-3771-01AGMLchr8

143922641

+C8orf47chr8

99101304

+
* 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-frameENST00000220940ENST00000318528GMLchr8

143922641

+C8orf47chr8

99101304

+
5CDS-intronENST00000220940ENST00000545282GMLchr8

143922641

+C8orf47chr8

99101304

+

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FusionProtFeatures for GML_C8orf47


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

Q99445

C8orf47

May play a role in the apoptotic pathway or cell-cycleregulation induced by p53/TP53 after DNA damage. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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
TgeneC8orf47chr8:143922641chr8:99101304ENST00000318528+03219_36619375Compositional biasNote=Glu-rich
TgeneC8orf47chr8:143922641chr8:99101304ENST00000545282+02219_366-5057Compositional biasNote=Glu-rich

- In-frame and not-retained protein feature among the 13 regional features.
>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneGMLchr8:143922641chr8:99101304ENST00000220940+3429_13460159DomainNote=UPAR/Ly6


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FusionGeneSequence for GML_C8orf47


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_GML_ENST00000220940_chr8_143922641_+_C8orf47_ENST00000318528_chr8_99101304_+_416aa
MLLFALLLAMELPLVAASATMRAQWTYSLRCHDCAVINDFNCPNIRVCPYHIRRCMTISILTSNEHFSTAEESESCFAQPKPHALGREST
VDGNVQRESRPPLQKLKVSAEPTANGVKPLQEQPLAKDVAPGRDATDQSGSTEKTQPGEGLEESGPPQPGGKEDAPAAEGKKKDAGAGTE
AESLKGNAEAQPLGPEAKGQPLQAAVEKDSLRAVEVTENPQTAAEMKPLGTTENVLTLQIAGELQPQGTVGKDEQAPLLETISKENESPE
ILEGSQFVETAEEQQLQATLGKEEQPQLLERIPKENVTPEVLDRSQLVEKPVMNDPFHKTPEGPGNMEQIQPEGIVGSMEHPARNVEAGA


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_GML_ENST00000220940_chr8_143922641_+_C8orf47_ENST00000318528_chr8_99101304_+_1248nt
ATGCTCCTCTTTGCCTTACTCCTAGCCATGGAGCTCCCATTGGTGGCAGCCAGTGCCACCATGCGCGCTCAGTGGACTTACAGTTTGAGA
TGCCATGACTGTGCGGTCATAAATGACTTCAACTGTCCCAACATTAGAGTATGTCCGTATCATATTAGGCGCTGTATGACAATCTCCATT
CTAACTTCAAATGAGCATTTTTCAACTGCAGAAGAAAGTGAGTCCTGCTTTGCCCAACCAAAGCCACATGCACTGGGAAGAGAATCTACT
GTTGATGGCAATGTACAAAGGGAAAGCCGTCCTCCCTTACAAAAGCTCAAGGTTTCAGCAGAGCCTACAGCTAATGGTGTTAAACCCCTC
CAAGAACAGCCCCTGGCCAAGGACGTAGCCCCTGGAAGGGATGCCACAGACCAATCAGGGTCCACAGAAAAGACTCAGCCTGGAGAGGGA
CTGGAGGAATCTGGGCCGCCTCAACCAGGTGGCAAAGAGGATGCCCCAGCAGCAGAAGGAAAGAAGAAAGATGCAGGAGCAGGGACAGAG
GCCGAGTCTCTAAAAGGAAATGCTGAAGCTCAGCCTTTAGGACCAGAAGCCAAGGGTCAGCCTTTGCAGGCAGCAGTAGAGAAGGACTCT
CTCAGAGCAGTGGAGGTCACTGAGAATCCACAAACTGCTGCAGAGATGAAGCCTCTAGGAACAACTGAGAACGTTCTGACTCTGCAAATA
GCTGGAGAGCTACAACCTCAGGGCACAGTGGGAAAGGATGAGCAGGCCCCGCTTCTAGAAACAATTTCCAAAGAGAATGAATCTCCAGAA
ATATTGGAAGGAAGTCAGTTTGTGGAAACAGCTGAAGAGCAGCAACTTCAGGCAACATTGGGAAAAGAGGAGCAGCCCCAGCTTCTAGAA
AGAATTCCCAAAGAGAATGTAACACCAGAAGTATTGGACAGAAGTCAGCTTGTGGAAAAGCCTGTTATGAATGATCCATTCCATAAAACT
CCTGAAGGTCCAGGAAACATGGAGCAGATTCAACCTGAAGGAATAGTTGGAAGCATGGAGCATCCAGCACGAAATGTAGAGGCAGGAGCA
TATGTGGAAATGATCAGGAACATCCATACTAATGAAGAGGACCAACGCATTGAAGGTGAGACAGGGGAAAAGGTGGAAACAGACATGGAG


* Fusion transcript sequences (Full-length transcript).
>In-frame_GML_ENST00000220940_chr8_143922641_+_C8orf47_ENST00000318528_chr8_99101304_+_1615nt
GTCGGCGCGGGAGGCTCAGATGGCTGGAGGCGGCGGGCACGCACACTGCGGGGCTCCGAGGGGCACAGGTCCAGGCTCCTGCGTGAAGTG
ATGCTCCTCTTTGCCTTACTCCTAGCCATGGAGCTCCCATTGGTGGCAGCCAGTGCCACCATGCGCGCTCAGTGGACTTACAGTTTGAGA
TGCCATGACTGTGCGGTCATAAATGACTTCAACTGTCCCAACATTAGAGTATGTCCGTATCATATTAGGCGCTGTATGACAATCTCCATT
CTAACTTCAAATGAGCATTTTTCAACTGCAGAAGAAAGTGAGTCCTGCTTTGCCCAACCAAAGCCACATGCACTGGGAAGAGAATCTACT
GTTGATGGCAATGTACAAAGGGAAAGCCGTCCTCCCTTACAAAAGCTCAAGGTTTCAGCAGAGCCTACAGCTAATGGTGTTAAACCCCTC
CAAGAACAGCCCCTGGCCAAGGACGTAGCCCCTGGAAGGGATGCCACAGACCAATCAGGGTCCACAGAAAAGACTCAGCCTGGAGAGGGA
CTGGAGGAATCTGGGCCGCCTCAACCAGGTGGCAAAGAGGATGCCCCAGCAGCAGAAGGAAAGAAGAAAGATGCAGGAGCAGGGACAGAG
GCCGAGTCTCTAAAAGGAAATGCTGAAGCTCAGCCTTTAGGACCAGAAGCCAAGGGTCAGCCTTTGCAGGCAGCAGTAGAGAAGGACTCT
CTCAGAGCAGTGGAGGTCACTGAGAATCCACAAACTGCTGCAGAGATGAAGCCTCTAGGAACAACTGAGAACGTTCTGACTCTGCAAATA
GCTGGAGAGCTACAACCTCAGGGCACAGTGGGAAAGGATGAGCAGGCCCCGCTTCTAGAAACAATTTCCAAAGAGAATGAATCTCCAGAA
ATATTGGAAGGAAGTCAGTTTGTGGAAACAGCTGAAGAGCAGCAACTTCAGGCAACATTGGGAAAAGAGGAGCAGCCCCAGCTTCTAGAA
AGAATTCCCAAAGAGAATGTAACACCAGAAGTATTGGACAGAAGTCAGCTTGTGGAAAAGCCTGTTATGAATGATCCATTCCATAAAACT
CCTGAAGGTCCAGGAAACATGGAGCAGATTCAACCTGAAGGAATAGTTGGAAGCATGGAGCATCCAGCACGAAATGTAGAGGCAGGAGCA
TATGTGGAAATGATCAGGAACATCCATACTAATGAAGAGGACCAACGCATTGAAGGTGAGACAGGGGAAAAGGTGGAAACAGACATGGAG
AATGAGAAAGTGAGTGAAGGGGCTGAAACCAAAGAAGAAGAAACAGGAGAAGTGGTGGACCTTTCAGCAGCCACATAGATAGAAGAGTGA
ACCGACACAGTGTGTTATCATAGAGGAGACAAAAATGGTAGTGAAGCTTGTGGTTATGTATCTTATCTTTCTACATTTACATGTTTTCTG
TAAGGAGTGTGGTTATAGAGAGACTGTTGGAACCATGAGAAGGATGTTTCTGTGTTCTTGATTATATTGTTCTGCAAAACTGCTAAGCCA


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FusionGenePPI for GML_C8orf47


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
GMLEIF2A, TUBA4A, LSS, CNTNAP3, DHFRL1, LAMA3, TUBB3, LAMB2, TMEM67, TUBA1A, GBF1, FAT1, FRAS1, LRIG1, CYB5R3, CLSTN1, ITGA6, PRKD2, PXDN, GAS6, UBR4, ANKRD46, AAGAB, TCTN1C8orf47


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 GML_C8orf47


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 GML_C8orf47


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource