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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: 5100

FusionGeneSummary for C8orf47_MATN2

check button Fusion gene summary
Fusion gene informationFusion gene name: C8orf47_MATN2
Fusion gene ID: 5100
HgeneTgene
Gene symbol

C8orf47

MATN2

Gene ID

203111

4147

Gene nameglutamate rich 5matrilin 2
SynonymsC8orf47-
Cytomap

8q22.2

8q22.1-q22.2

Type of geneprotein-codingprotein-coding
Descriptionglutamate-rich protein 5matrilin-2testis tissue sperm-binding protein Li 94mP
Modification date2018051920180523
UniProtAcc

O00339

Ensembl transtripts involved in fusion geneENST00000318528, ENST00000545282, 
ENST00000521689, ENST00000254898, 
ENST00000524308, ENST00000522025, 
ENST00000520016, ENST00000518238, 
Fusion gene scores* DoF score1 X 1 X 1=19 X 8 X 8=576
# samples 110
** MAII scorelog2(1/1*10)=3.32192809488736log2(10/576*10)=-2.52606881166759
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C8orf47 [Title/Abstract] AND MATN2 [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
TCGARVLIHCTCGA-BC-A10Y-01AC8orf47chr8

99076955

+MATN2chr8

99042690

+
* 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-frameENST00000318528ENST00000521689C8orf47chr8

99076955

+MATN2chr8

99042690

+
In-frameENST00000318528ENST00000254898C8orf47chr8

99076955

+MATN2chr8

99042690

+
In-frameENST00000318528ENST00000524308C8orf47chr8

99076955

+MATN2chr8

99042690

+
In-frameENST00000318528ENST00000522025C8orf47chr8

99076955

+MATN2chr8

99042690

+
In-frameENST00000318528ENST00000520016C8orf47chr8

99076955

+MATN2chr8

99042690

+
5CDS-intronENST00000318528ENST00000518238C8orf47chr8

99076955

+MATN2chr8

99042690

+
In-frameENST00000545282ENST00000521689C8orf47chr8

99076955

+MATN2chr8

99042690

+
In-frameENST00000545282ENST00000254898C8orf47chr8

99076955

+MATN2chr8

99042690

+
In-frameENST00000545282ENST00000524308C8orf47chr8

99076955

+MATN2chr8

99042690

+
In-frameENST00000545282ENST00000522025C8orf47chr8

99076955

+MATN2chr8

99042690

+
In-frameENST00000545282ENST00000520016C8orf47chr8

99076955

+MATN2chr8

99042690

+
5CDS-intronENST00000545282ENST00000518238C8orf47chr8

99076955

+MATN2chr8

99042690

+

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FusionProtFeatures for C8orf47_MATN2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C8orf47

MATN2

O00339

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
TgeneMATN2chr8:99076955chr8:99042690ENST00000520016+1218917_955785957Coiled coilOntology_term=ECO:0000255
TgeneMATN2chr8:99076955chr8:99042690ENST00000521689+1319917_955785938Coiled coilOntology_term=ECO:0000255
TgeneMATN2chr8:99076955chr8:99042690ENST00000522025+1218917_955501673Coiled coilOntology_term=ECO:0000255
TgeneMATN2chr8:99076955chr8:99042690ENST00000524308+1218917_955744916Coiled coilOntology_term=ECO:0000255
TgeneMATN2chr8:99076955chr8:99042690ENST00000522025+1218525_565501673DomainEGF-like 8
TgeneMATN2chr8:99076955chr8:99042690ENST00000522025+1218566_606501673DomainEGF-like 9
TgeneMATN2chr8:99076955chr8:99042690ENST00000522025+1218607_647501673DomainEGF-like 10
TgeneMATN2chr8:99076955chr8:99042690ENST00000522025+1218655_830501673DomainVWFA 2

- In-frame and not-retained protein feature among the 13 regional features.
>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneC8orf47chr8:99076955chr8:99042690ENST00000318528+13219_36619375Compositional biasNote=Glu-rich
HgeneC8orf47chr8:99076955chr8:99042690ENST00000545282+12219_3661957Compositional biasNote=Glu-rich
TgeneMATN2chr8:99076955chr8:99042690ENST00000520016+1218238_278785957DomainEGF-like 1
TgeneMATN2chr8:99076955chr8:99042690ENST00000520016+1218279_319785957DomainEGF-like 2
TgeneMATN2chr8:99076955chr8:99042690ENST00000520016+1218320_360785957DomainEGF-like 3
TgeneMATN2chr8:99076955chr8:99042690ENST00000520016+1218402_442785957DomainEGF-like 5
TgeneMATN2chr8:99076955chr8:99042690ENST00000520016+1218443_483785957DomainEGF-like 6
TgeneMATN2chr8:99076955chr8:99042690ENST00000520016+1218484_524785957DomainEGF-like 7
TgeneMATN2chr8:99076955chr8:99042690ENST00000520016+1218525_565785957DomainEGF-like 8
TgeneMATN2chr8:99076955chr8:99042690ENST00000520016+1218566_606785957DomainEGF-like 9
TgeneMATN2chr8:99076955chr8:99042690ENST00000520016+121857_232785957DomainVWFA 1
TgeneMATN2chr8:99076955chr8:99042690ENST00000520016+1218607_647785957DomainEGF-like 10
TgeneMATN2chr8:99076955chr8:99042690ENST00000520016+1218655_830785957DomainVWFA 2
TgeneMATN2chr8:99076955chr8:99042690ENST00000521689+1319238_278785938DomainEGF-like 1
TgeneMATN2chr8:99076955chr8:99042690ENST00000521689+1319279_319785938DomainEGF-like 2
TgeneMATN2chr8:99076955chr8:99042690ENST00000521689+1319320_360785938DomainEGF-like 3
TgeneMATN2chr8:99076955chr8:99042690ENST00000521689+1319402_442785938DomainEGF-like 5
TgeneMATN2chr8:99076955chr8:99042690ENST00000521689+1319443_483785938DomainEGF-like 6
TgeneMATN2chr8:99076955chr8:99042690ENST00000521689+1319484_524785938DomainEGF-like 7
TgeneMATN2chr8:99076955chr8:99042690ENST00000521689+1319525_565785938DomainEGF-like 8
TgeneMATN2chr8:99076955chr8:99042690ENST00000521689+1319566_606785938DomainEGF-like 9
TgeneMATN2chr8:99076955chr8:99042690ENST00000521689+131957_232785938DomainVWFA 1
TgeneMATN2chr8:99076955chr8:99042690ENST00000521689+1319607_647785938DomainEGF-like 10
TgeneMATN2chr8:99076955chr8:99042690ENST00000521689+1319655_830785938DomainVWFA 2
TgeneMATN2chr8:99076955chr8:99042690ENST00000522025+1218238_278501673DomainEGF-like 1
TgeneMATN2chr8:99076955chr8:99042690ENST00000522025+1218279_319501673DomainEGF-like 2
TgeneMATN2chr8:99076955chr8:99042690ENST00000522025+1218320_360501673DomainEGF-like 3
TgeneMATN2chr8:99076955chr8:99042690ENST00000522025+1218402_442501673DomainEGF-like 5
TgeneMATN2chr8:99076955chr8:99042690ENST00000522025+1218443_483501673DomainEGF-like 6
TgeneMATN2chr8:99076955chr8:99042690ENST00000522025+1218484_524501673DomainEGF-like 7
TgeneMATN2chr8:99076955chr8:99042690ENST00000522025+121857_232501673DomainVWFA 1
TgeneMATN2chr8:99076955chr8:99042690ENST00000524308+1218238_278744916DomainEGF-like 1
TgeneMATN2chr8:99076955chr8:99042690ENST00000524308+1218279_319744916DomainEGF-like 2
TgeneMATN2chr8:99076955chr8:99042690ENST00000524308+1218320_360744916DomainEGF-like 3
TgeneMATN2chr8:99076955chr8:99042690ENST00000524308+1218402_442744916DomainEGF-like 5
TgeneMATN2chr8:99076955chr8:99042690ENST00000524308+1218443_483744916DomainEGF-like 6
TgeneMATN2chr8:99076955chr8:99042690ENST00000524308+1218484_524744916DomainEGF-like 7
TgeneMATN2chr8:99076955chr8:99042690ENST00000524308+1218525_565744916DomainEGF-like 8
TgeneMATN2chr8:99076955chr8:99042690ENST00000524308+1218566_606744916DomainEGF-like 9
TgeneMATN2chr8:99076955chr8:99042690ENST00000524308+121857_232744916DomainVWFA 1
TgeneMATN2chr8:99076955chr8:99042690ENST00000524308+1218607_647744916DomainEGF-like 10
TgeneMATN2chr8:99076955chr8:99042690ENST00000524308+1218655_830744916DomainVWFA 2


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FusionGeneSequence for C8orf47_MATN2


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for C8orf47_MATN2


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
C8orf47MATN2MATN2, FBN2, COL1A1, MATN1, MATN4, ATXN7, CACNA1A, ATXN1, ATXN1L, CBFA2T3, DVL3, KRAS, NELL2, NELL1


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 C8orf47_MATN2


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 C8orf47_MATN2


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