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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: 17596

FusionGeneSummary for INTS5_C11orf48

check button Fusion gene summary
Fusion gene informationFusion gene name: INTS5_C11orf48
Fusion gene ID: 17596
HgeneTgene
Gene symbol

INTS5

C11orf48

Gene ID

80789

102288414

Gene nameintegrator complex subunit 5chromosome 11 open reading frame 98
SynonymsINT5|KIAA1698C11orf48
Cytomap

11q12.3

11q12.3

Type of geneprotein-codingprotein-coding
Descriptionintegrator complex subunit 5uncharacterized protein C11orf98
Modification date2018051920180519
UniProtAcc

Q6P9B9

Ensembl transtripts involved in fusion geneENST00000330574, ENST00000524958, 
ENST00000354588, ENST00000431002, 
ENST00000532208, ENST00000525675, 
Fusion gene scores* DoF score4 X 3 X 3=363 X 2 X 3=18
# samples 53
** MAII scorelog2(5/36*10)=0.473931188332412
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: INTS5 [Title/Abstract] AND C11orf48 [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
HgeneINTS5

GO:0016180

snRNA processing

16239144


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
TCGARVLUSCTCGA-NK-A7XE-01AINTS5chr11

62420642

-C11orf48chr11

62430805

-
* 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
Frame-shiftENST00000330574ENST00000524958INTS5chr11

62420642

-C11orf48chr11

62430805

-
In-frameENST00000330574ENST00000354588INTS5chr11

62420642

-C11orf48chr11

62430805

-
In-frameENST00000330574ENST00000431002INTS5chr11

62420642

-C11orf48chr11

62430805

-
In-frameENST00000330574ENST00000532208INTS5chr11

62420642

-C11orf48chr11

62430805

-
Frame-shiftENST00000330574ENST00000525675INTS5chr11

62420642

-C11orf48chr11

62430805

-

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FusionProtFeatures for INTS5_C11orf48


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
INTS5

Q6P9B9

C11orf48

Component of the Integrator (INT) complex, a complexinvolved in the small nuclear RNAs (snRNA) U1 and U2 transcriptionand in their 3'-box-dependent processing. The Integrator complexis associated with the C-terminal domain (CTD) of RNA polymeraseII largest subunit (POLR2A) and is recruited to the U1 and U2snRNAs genes (Probable). Mediates recruitment of cytoplasmicdynein to the nuclear envelope, probably as component of the INTcomplex (PubMed:23904267). {ECO:0000269|PubMed:23904267,ECO:0000305|PubMed:16239144}. 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 INTS5_C11orf48


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 INTS5_C11orf48


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
INTS5INTS1, INTS3, INTS2, INTS4, INTS6, DDX26B, INTS7, INTS8, INTS9, CPSF3L, INTS12, POLR2A, POLR2B, POLR2C, INTS10, POLR2D, POLR2E, POLR2G, POLR2H, POLR2J, POLR2L, PPP2R1A, PPP2R1B, PPP2CB, ASUN, VWA9, C7orf26, NAIF1, NABP2, NABP1, ZMYND8, ZNF592, ZNF687, SHFM1, BSG, TMEM171, HLA-B, TGOLN2, TNF, NTRK1, PPP2CA, CNOT1, SKA3, LAMP3, CD79B, CHRM4, CD70, NPY2R, CLU, C1orf85, PCDHA12, TOMM22C11orf48


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 INTS5_C11orf48


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 INTS5_C11orf48


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