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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:ITGB1-DYM

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ITGB1-DYM
FusionPDB ID: 40507
FusionGDB2.0 ID: 40507
HgeneTgene
Gene symbol

ITGB1

DYM

Gene ID

3688

54808

Gene nameintegrin subunit beta 1dymeclin
SynonymsCD29|FNRB|GPIIA|MDF2|MSK12|VLA-BETA|VLABDMC|SMC
Cytomap

10p11.22

18q21.1

Type of geneprotein-codingprotein-coding
Descriptionintegrin beta-1glycoprotein IIaintegrin VLA-4 beta subunitintegrin beta 1integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)very late activation protein, beta polypeptidedymeclindyggve-Melchior-Clausen syndrome protein
Modification date2020031320200313
UniProtAcc

Q9UKP3

Q7RTS9

Ensembl transtripts involved in fusion geneENST idsENST00000302278, ENST00000374956, 
ENST00000396033, ENST00000423113, 
ENST00000484088, 
ENST00000578396, 
ENST00000584977, ENST00000269445, 
ENST00000442713, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score10 X 7 X 8=56019 X 11 X 13=2717
# samples 1124
** MAII scorelog2(11/560*10)=-2.34792330342031
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(24/2717*10)=-3.50090825461346
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ITGB1 [Title/Abstract] AND DYM [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ITGB1(33214799)-DYM(46798673), # samples:1
Anticipated loss of major functional domain due to fusion event.ITGB1-DYM seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ITGB1-DYM seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ITGB1-DYM seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ITGB1-DYM seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
* 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
HgeneITGB1

GO:0007155

cell adhesion

19703720

HgeneITGB1

GO:0007159

leukocyte cell-cell adhesion

1715889

HgeneITGB1

GO:0007229

integrin-mediated signaling pathway

31331973

HgeneITGB1

GO:0010710

regulation of collagen catabolic process

10455171

HgeneITGB1

GO:0010763

positive regulation of fibroblast migration

26763945

HgeneITGB1

GO:0023035

CD40 signaling pathway

31331973

HgeneITGB1

GO:0033627

cell adhesion mediated by integrin

12807887|17158881

HgeneITGB1

GO:0051897

positive regulation of protein kinase B signaling

24044949

HgeneITGB1

GO:0090303

positive regulation of wound healing

26763945

HgeneITGB1

GO:1903078

positive regulation of protein localization to plasma membrane

10455171

HgeneITGB1

GO:2000273

positive regulation of signaling receptor activity

24044949


check buttonFusion gene breakpoints across ITGB1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across DYM (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-E2-A9RU-01AITGB1chr10

33214799

-DYMchr18

46798673

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000396033ITGB1chr1033214799-ENST00000442713DYMchr1846798673-2193922401806588
ENST00000396033ITGB1chr1033214799-ENST00000269445DYMchr1846798673-2042922401806588

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000396033ENST00000442713ITGB1chr1033214799-DYMchr1846798673-0.0004850870.99951494
ENST00000396033ENST00000269445ITGB1chr1033214799-DYMchr1846798673-0.0003986970.9996013

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>40507_40507_1_ITGB1-DYM_ITGB1_chr10_33214799_ENST00000396033_DYM_chr18_46798673_ENST00000269445_length(amino acids)=588AA_BP=294
MGAVTSGLPELRGTGPERPLTPAVSRRAGQAQMNLQPIFWIGLISSVCCVFAQTDENRCLKANAKSCGECIQAGPNCGWCTNSTFLQEGM
PTSARCDDLEALKKKGCPPDDIENPRGSKDIKKNKNVTNRSKGTAEKLKPEDITQIQPQQLVLRLRSGEPQTFTLKFKRAEDYPIDLYYL
MDLSYSMKDDLENVKSLGTDLMNEMRRITSDFRIGFGSFVEKTVMPYISTTPAKLRNPCTSEQNCTSPFSYKNVLSLTNKGEVFNELVGK
QRISGNLDSPEGGFDAIMQVAVCGVLPILEILYHVEERNSHHVYMALIILLILTEDDGFNRSIHEVILKNITWYSERVLTEISLGSLLIL
VVIRTIQYNMTRTRDKYLHTNCLAALANMSAQFRSLHQYAAQRIISLFSLLSKKHNKVLEQATQSLRGSLSSNDVPLPDYAQDLNVIEEV
IRMMLEIINSCLTNSLHHNPNLVYALLYKRDLFEQFRTHPSFQDIMQNIDLVISFFSSRLLQAGAELSVERVLEIIKQGVVALPKDRLKK

--------------------------------------------------------------

>40507_40507_2_ITGB1-DYM_ITGB1_chr10_33214799_ENST00000396033_DYM_chr18_46798673_ENST00000442713_length(amino acids)=588AA_BP=294
MGAVTSGLPELRGTGPERPLTPAVSRRAGQAQMNLQPIFWIGLISSVCCVFAQTDENRCLKANAKSCGECIQAGPNCGWCTNSTFLQEGM
PTSARCDDLEALKKKGCPPDDIENPRGSKDIKKNKNVTNRSKGTAEKLKPEDITQIQPQQLVLRLRSGEPQTFTLKFKRAEDYPIDLYYL
MDLSYSMKDDLENVKSLGTDLMNEMRRITSDFRIGFGSFVEKTVMPYISTTPAKLRNPCTSEQNCTSPFSYKNVLSLTNKGEVFNELVGK
QRISGNLDSPEGGFDAIMQVAVCGVLPILEILYHVEERNSHHVYMALIILLILTEDDGFNRSIHEVILKNITWYSERVLTEISLGSLLIL
VVIRTIQYNMTRTRDKYLHTNCLAALANMSAQFRSLHQYAAQRIISLFSLLSKKHNKVLEQATQSLRGSLSSNDVPLPDYAQDLNVIEEV
IRMMLEIINSCLTNSLHHNPNLVYALLYKRDLFEQFRTHPSFQDIMQNIDLVISFFSSRLLQAGAELSVERVLEIIKQGVVALPKDRLKK

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr10:33214799/chr18:46798673)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ITGB1

Q9UKP3

DYM

Q7RTS9

FUNCTION: May play a role during maturation and/or organization of muscles cells.FUNCTION: Necessary for correct organization of Golgi apparatus. Involved in bone development. {ECO:0000269|PubMed:21280149}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneITGB1chr10:33214799chr18:46798673ENST00000302278-616140_378262.0799.0DomainNote=VWFA
HgeneITGB1chr10:33214799chr18:46798673ENST00000374956-617140_378262.0826.0DomainNote=VWFA
HgeneITGB1chr10:33214799chr18:46798673ENST00000396033-616140_378262.0799.0DomainNote=VWFA
HgeneITGB1chr10:33214799chr18:46798673ENST00000423113-516140_378262.01217.0DomainNote=VWFA
HgeneITGB1chr10:33214799chr18:46798673ENST00000302278-616295_314262.0799.0RegionCX3CL1-binding
HgeneITGB1chr10:33214799chr18:46798673ENST00000302278-616466_635262.0799.0RegionNote=Cysteine-rich tandem repeats
HgeneITGB1chr10:33214799chr18:46798673ENST00000374956-617295_314262.0826.0RegionCX3CL1-binding
HgeneITGB1chr10:33214799chr18:46798673ENST00000374956-617466_635262.0826.0RegionNote=Cysteine-rich tandem repeats
HgeneITGB1chr10:33214799chr18:46798673ENST00000396033-616295_314262.0799.0RegionCX3CL1-binding
HgeneITGB1chr10:33214799chr18:46798673ENST00000396033-616466_635262.0799.0RegionNote=Cysteine-rich tandem repeats
HgeneITGB1chr10:33214799chr18:46798673ENST00000423113-516295_314262.01217.0RegionCX3CL1-binding
HgeneITGB1chr10:33214799chr18:46798673ENST00000423113-516466_635262.01217.0RegionNote=Cysteine-rich tandem repeats
HgeneITGB1chr10:33214799chr18:46798673ENST00000302278-616466_515262.0799.0RepeatNote=I
HgeneITGB1chr10:33214799chr18:46798673ENST00000302278-616516_559262.0799.0RepeatNote=II
HgeneITGB1chr10:33214799chr18:46798673ENST00000302278-616560_598262.0799.0RepeatNote=III
HgeneITGB1chr10:33214799chr18:46798673ENST00000302278-616599_635262.0799.0RepeatNote=IV
HgeneITGB1chr10:33214799chr18:46798673ENST00000374956-617466_515262.0826.0RepeatNote=I
HgeneITGB1chr10:33214799chr18:46798673ENST00000374956-617516_559262.0826.0RepeatNote=II
HgeneITGB1chr10:33214799chr18:46798673ENST00000374956-617560_598262.0826.0RepeatNote=III
HgeneITGB1chr10:33214799chr18:46798673ENST00000374956-617599_635262.0826.0RepeatNote=IV
HgeneITGB1chr10:33214799chr18:46798673ENST00000396033-616466_515262.0799.0RepeatNote=I
HgeneITGB1chr10:33214799chr18:46798673ENST00000396033-616516_559262.0799.0RepeatNote=II
HgeneITGB1chr10:33214799chr18:46798673ENST00000396033-616560_598262.0799.0RepeatNote=III
HgeneITGB1chr10:33214799chr18:46798673ENST00000396033-616599_635262.0799.0RepeatNote=IV
HgeneITGB1chr10:33214799chr18:46798673ENST00000423113-516466_515262.01217.0RepeatNote=I
HgeneITGB1chr10:33214799chr18:46798673ENST00000423113-516516_559262.01217.0RepeatNote=II
HgeneITGB1chr10:33214799chr18:46798673ENST00000423113-516560_598262.01217.0RepeatNote=III
HgeneITGB1chr10:33214799chr18:46798673ENST00000423113-516599_635262.01217.0RepeatNote=IV
HgeneITGB1chr10:33214799chr18:46798673ENST00000302278-61621_728262.0799.0Topological domainExtracellular
HgeneITGB1chr10:33214799chr18:46798673ENST00000302278-616752_798262.0799.0Topological domainCytoplasmic
HgeneITGB1chr10:33214799chr18:46798673ENST00000374956-61721_728262.0826.0Topological domainExtracellular
HgeneITGB1chr10:33214799chr18:46798673ENST00000374956-617752_798262.0826.0Topological domainCytoplasmic
HgeneITGB1chr10:33214799chr18:46798673ENST00000396033-61621_728262.0799.0Topological domainExtracellular
HgeneITGB1chr10:33214799chr18:46798673ENST00000396033-616752_798262.0799.0Topological domainCytoplasmic
HgeneITGB1chr10:33214799chr18:46798673ENST00000423113-51621_728262.01217.0Topological domainExtracellular
HgeneITGB1chr10:33214799chr18:46798673ENST00000423113-516752_798262.01217.0Topological domainCytoplasmic
HgeneITGB1chr10:33214799chr18:46798673ENST00000302278-616729_751262.0799.0TransmembraneHelical
HgeneITGB1chr10:33214799chr18:46798673ENST00000374956-617729_751262.0826.0TransmembraneHelical
HgeneITGB1chr10:33214799chr18:46798673ENST00000396033-616729_751262.0799.0TransmembraneHelical
HgeneITGB1chr10:33214799chr18:46798673ENST00000423113-516729_751262.01217.0TransmembraneHelical


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
ITGB1
DYM


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneITGB1chr10:33214799chr18:46798673ENST00000302278-616785_792262.0799.0ITGB1BP1
HgeneITGB1chr10:33214799chr18:46798673ENST00000374956-617785_792262.0826.0ITGB1BP1
HgeneITGB1chr10:33214799chr18:46798673ENST00000396033-616785_792262.0799.0ITGB1BP1
HgeneITGB1chr10:33214799chr18:46798673ENST00000423113-516785_792262.01217.0ITGB1BP1


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Related Drugs to ITGB1-DYM


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to ITGB1-DYM


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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