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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: 34905

FusionGeneSummary for SMG6_C10orf11

check button Fusion gene summary
Fusion gene informationFusion gene name: SMG6_C10orf11
Fusion gene ID: 34905
HgeneTgene
Gene symbol

SMG6

C10orf11

Gene ID

23293

Gene nameSMG6, nonsense mediated mRNA decay factor
SynonymsC17orf31|EST1A|SMG-6|hSMG5/7a
Cytomap

17p13.3

Type of geneprotein-coding
Descriptiontelomerase-binding protein EST1AEST1 telomerase component homolog Aever shorter telomeres 1Asmg-6 homolog, nonsense mediated mRNA decay factortelomerase subunit EST1A
Modification date20180523
UniProtAcc

Q86US8

Ensembl transtripts involved in fusion geneENST00000544865, ENST00000263073, 
ENST00000354901, ENST00000536871, 
ENST00000573166, 
ENST00000593699, 
ENST00000372499, ENST00000496424, 
Fusion gene scores* DoF score12 X 8 X 5=48017 X 6 X 7=714
# samples 1219
** MAII scorelog2(12/480*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(19/714*10)=-1.90992465569815
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SMG6 [Title/Abstract] AND C10orf11 [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
HgeneSMG6

GO:1904354

negative regulation of telomere capping

12676087


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
TCGARVPRADTCGA-J9-A8CK-01ASMG6chr17

2075952

-C10orf11chr10

78316967

+
* 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
5CDS-3UTRENST00000544865ENST00000593699SMG6chr17

2075952

-C10orf11chr10

78316967

+
5CDS-3UTRENST00000544865ENST00000372499SMG6chr17

2075952

-C10orf11chr10

78316967

+
5CDS-3UTRENST00000544865ENST00000496424SMG6chr17

2075952

-C10orf11chr10

78316967

+
5CDS-3UTRENST00000263073ENST00000593699SMG6chr17

2075952

-C10orf11chr10

78316967

+
5CDS-3UTRENST00000263073ENST00000372499SMG6chr17

2075952

-C10orf11chr10

78316967

+
5CDS-3UTRENST00000263073ENST00000496424SMG6chr17

2075952

-C10orf11chr10

78316967

+
5CDS-3UTRENST00000354901ENST00000593699SMG6chr17

2075952

-C10orf11chr10

78316967

+
5CDS-3UTRENST00000354901ENST00000372499SMG6chr17

2075952

-C10orf11chr10

78316967

+
5CDS-3UTRENST00000354901ENST00000496424SMG6chr17

2075952

-C10orf11chr10

78316967

+
5CDS-3UTRENST00000536871ENST00000593699SMG6chr17

2075952

-C10orf11chr10

78316967

+
5CDS-3UTRENST00000536871ENST00000372499SMG6chr17

2075952

-C10orf11chr10

78316967

+
5CDS-3UTRENST00000536871ENST00000496424SMG6chr17

2075952

-C10orf11chr10

78316967

+
intron-3UTRENST00000573166ENST00000593699SMG6chr17

2075952

-C10orf11chr10

78316967

+
intron-3UTRENST00000573166ENST00000372499SMG6chr17

2075952

-C10orf11chr10

78316967

+
intron-3UTRENST00000573166ENST00000496424SMG6chr17

2075952

-C10orf11chr10

78316967

+

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FusionProtFeatures for SMG6_C10orf11


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMG6

Q86US8

C10orf11

Component of the telomerase ribonucleoprotein (RNP)complex that is essential for the replication of chromosometermini. May have a general role in telomere regulation. Promotesin vitro the ability of TERT to elongate telomeres. Overexpressioninduces telomere uncapping, chromosomal end-to-end fusions(telomeric DNA persists at the fusion points) and did not perturbTRF2 telomeric localization. Binds to the single-stranded 5'-(GTGTGG)(4)GTGT-3' telomeric DNA, but not to a telomerase RNAtemplate component (TER). Plays a role in nonsense-mediated mRNA decay. Is thoughtto provide a link to the mRNA degradation machinery as it hasendonuclease activity required to initiate NMD, and to serve as anadapter for UPF1 to protein phosphatase 2A (PP2A), therebytriggering UPF1 dephosphorylation. Degrades single-stranded RNA(ssRNA), but not ssDNA or dsRNA. 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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for SMG6_C10orf11


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 SMG6_C10orf11


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
SMG6TERT, HDAC8, UPF1, HBB, PPP1CC, SOX2, RBM8A, MAGOH, PABPC1, SMG6, UPF3B, SMG5, SMG7, PSG1, C2orf68, FAM221B, SPATA1, HAO2, LPIN3, TRIM25C10orf11


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 SMG6_C10orf11


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 SMG6_C10orf11


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