FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:ITGB1-MYL12A (FusionGDB2 ID:40512)

Fusion Gene Summary for ITGB1-MYL12A

check button Fusion gene summary
Fusion gene informationFusion gene name: ITGB1-MYL12A
Fusion gene ID: 40512
HgeneTgene
Gene symbol

ITGB1

MYL12A

Gene ID

3688

10627

Gene nameintegrin subunit beta 1myosin light chain 12A
SynonymsCD29|FNRB|GPIIA|MDF2|MSK12|VLA-BETA|VLABHEL-S-24|MLC-2B|MLCB|MRCL3|MRLC3|MYL2B
Cytomap

10p11.22

18p11.31

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 polypeptidemyosin regulatory light chain 12Aepididymis secretory protein Li 24myosin RLCmyosin regulatory light chain 2, nonsarcomericmyosin regulatory light chain 3myosin regulatory light chain MRLC3myosin, light chain 12A, regulatory, non-sarcomericmyosin,
Modification date2020031320200313
UniProtAcc

P05556

P19105

Ensembl transtripts involved in fusion geneENST00000302278, ENST00000374956, 
ENST00000484088, ENST00000396033, 
ENST00000423113, 		ENST00000217652, 
ENST00000536605, ENST00000578611, 
ENST00000579226, ENST00000580887, 
ENST00000585090, 
Fusion gene scores* DoF score10 X 7 X 8=56011 X 10 X 5=550
# samples 1113
** MAII scorelog2(11/560*10)=-2.34792330342031
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/550*10)=-2.08091999538357
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ITGB1 [Title/Abstract] AND MYL12A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointITGB1(33247073)-MYL12A(3253231), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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.

check buttonFusion gene breakpoints across MYL12A (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4STADTCGA-CG-5724-01AITGB1chr10

33247073

-MYL12Achr18

3253231

+


Top

Fusion Gene ORF analysis for ITGB1-MYL12A

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
5UTR-5UTRENST00000302278ENST00000217652ITGB1chr10

33247073

-MYL12Achr18

3253231

+
5UTR-5UTRENST00000302278ENST00000536605ITGB1chr10

33247073

-MYL12Achr18

3253231

+
5UTR-5UTRENST00000302278ENST00000578611ITGB1chr10

33247073

-MYL12Achr18

3253231

+
5UTR-5UTRENST00000302278ENST00000579226ITGB1chr10

33247073

-MYL12Achr18

3253231

+
5UTR-5UTRENST00000374956ENST00000217652ITGB1chr10

33247073

-MYL12Achr18

3253231

+
5UTR-5UTRENST00000374956ENST00000536605ITGB1chr10

33247073

-MYL12Achr18

3253231

+
5UTR-5UTRENST00000374956ENST00000578611ITGB1chr10

33247073

-MYL12Achr18

3253231

+
5UTR-5UTRENST00000374956ENST00000579226ITGB1chr10

33247073

-MYL12Achr18

3253231

+
5UTR-5UTRENST00000484088ENST00000217652ITGB1chr10

33247073

-MYL12Achr18

3253231

+
5UTR-5UTRENST00000484088ENST00000536605ITGB1chr10

33247073

-MYL12Achr18

3253231

+
5UTR-5UTRENST00000484088ENST00000578611ITGB1chr10

33247073

-MYL12Achr18

3253231

+
5UTR-5UTRENST00000484088ENST00000579226ITGB1chr10

33247073

-MYL12Achr18

3253231

+
5UTR-intronENST00000302278ENST00000580887ITGB1chr10

33247073

-MYL12Achr18

3253231

+
5UTR-intronENST00000302278ENST00000585090ITGB1chr10

33247073

-MYL12Achr18

3253231

+
5UTR-intronENST00000374956ENST00000580887ITGB1chr10

33247073

-MYL12Achr18

3253231

+
5UTR-intronENST00000374956ENST00000585090ITGB1chr10

33247073

-MYL12Achr18

3253231

+
5UTR-intronENST00000484088ENST00000580887ITGB1chr10

33247073

-MYL12Achr18

3253231

+
5UTR-intronENST00000484088ENST00000585090ITGB1chr10

33247073

-MYL12Achr18

3253231

+
intron-5UTRENST00000396033ENST00000217652ITGB1chr10

33247073

-MYL12Achr18

3253231

+
intron-5UTRENST00000396033ENST00000536605ITGB1chr10

33247073

-MYL12Achr18

3253231

+
intron-5UTRENST00000396033ENST00000578611ITGB1chr10

33247073

-MYL12Achr18

3253231

+
intron-5UTRENST00000396033ENST00000579226ITGB1chr10

33247073

-MYL12Achr18

3253231

+
intron-5UTRENST00000423113ENST00000217652ITGB1chr10

33247073

-MYL12Achr18

3253231

+
intron-5UTRENST00000423113ENST00000536605ITGB1chr10

33247073

-MYL12Achr18

3253231

+
intron-5UTRENST00000423113ENST00000578611ITGB1chr10

33247073

-MYL12Achr18

3253231

+
intron-5UTRENST00000423113ENST00000579226ITGB1chr10

33247073

-MYL12Achr18

3253231

+
intron-intronENST00000396033ENST00000580887ITGB1chr10

33247073

-MYL12Achr18

3253231

+
intron-intronENST00000396033ENST00000585090ITGB1chr10

33247073

-MYL12Achr18

3253231

+
intron-intronENST00000423113ENST00000580887ITGB1chr10

33247073

-MYL12Achr18

3253231

+
intron-intronENST00000423113ENST00000585090ITGB1chr10

33247073

-MYL12Achr18

3253231

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

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

Top

Fusion Genomic Features for ITGB1-MYL12A


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
ITGB1chr1033247072-MYL12Achr183253230+1.09E-101
ITGB1chr1033247072-MYL12Achr183253230+1.09E-101

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

Top

Fusion Protein Features for ITGB1-MYL12A


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/:33247073/:3253231)
- 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

P05556

MYL12A

P19105

FUNCTION: Integrins alpha-1/beta-1, alpha-2/beta-1, alpha-10/beta-1 and alpha-11/beta-1 are receptors for collagen. Integrins alpha-1/beta-1 and alpha-2/beta-2 recognize the proline-hydroxylated sequence G-F-P-G-E-R in collagen. Integrins alpha-2/beta-1, alpha-3/beta-1, alpha-4/beta-1, alpha-5/beta-1, alpha-8/beta-1, alpha-10/beta-1, alpha-11/beta-1 and alpha-V/beta-1 are receptors for fibronectin. Alpha-4/beta-1 recognizes one or more domains within the alternatively spliced CS-1 and CS-5 regions of fibronectin. Integrin alpha-5/beta-1 is a receptor for fibrinogen. Integrin alpha-1/beta-1, alpha-2/beta-1, alpha-6/beta-1 and alpha-7/beta-1 are receptors for lamimin. Integrin alpha-6/beta-1 (ITGA6:ITGB1) is present in oocytes and is involved in sperm-egg fusion (By similarity). Integrin alpha-4/beta-1 is a receptor for VCAM1. It recognizes the sequence Q-I-D-S in VCAM1. Integrin alpha-9/beta-1 is a receptor for VCAM1, cytotactin and osteopontin. It recognizes the sequence A-E-I-D-G-I-E-L in cytotactin. Integrin alpha-3/beta-1 is a receptor for epiligrin, thrombospondin and CSPG4. Alpha-3/beta-1 may mediate with LGALS3 the stimulation by CSPG4 of endothelial cells migration. Integrin alpha-V/beta-1 is a receptor for vitronectin. Beta-1 integrins recognize the sequence R-G-D in a wide array of ligands. When associated with alpha-7 integrin, regulates cell adhesion and laminin matrix deposition. Involved in promoting endothelial cell motility and angiogenesis. Involved in osteoblast compaction through the fibronectin fibrillogenesis cell-mediated matrix assembly process and the formation of mineralized bone nodules. May be involved in up-regulation of the activity of kinases such as PKC via binding to KRT1. Together with KRT1 and RACK1, serves as a platform for SRC activation or inactivation. Plays a mechanistic adhesive role during telophase, required for the successful completion of cytokinesis. Integrin alpha-3/beta-1 provides a docking site for FAP (seprase) at invadopodia plasma membranes in a collagen-dependent manner and hence may participate in the adhesion, formation of invadopodia and matrix degradation processes, promoting cell invasion. ITGA4:ITGB1 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415, PubMed:24789099). ITGA4:ITGB1 and ITGA5:ITGB1 bind to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:18635536, PubMed:25398877). ITGA5:ITGB1 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887, PubMed:17158881). ITGA5:ITGB1 is a receptor for IL1B and binding is essential for IL1B signaling (PubMed:29030430). ITGA5:ITGB3 is a receptor for soluble CD40LG and is required for CD40/CD40LG signaling (PubMed:31331973). {ECO:0000250|UniProtKB:P09055, ECO:0000269|PubMed:10455171, ECO:0000269|PubMed:12473654, ECO:0000269|PubMed:12807887, ECO:0000269|PubMed:16256741, ECO:0000269|PubMed:17158881, ECO:0000269|PubMed:18635536, ECO:0000269|PubMed:18804435, ECO:0000269|PubMed:19064666, ECO:0000269|PubMed:21768292, ECO:0000269|PubMed:23125415, ECO:0000269|PubMed:24789099, ECO:0000269|PubMed:25398877, ECO:0000269|PubMed:29030430, ECO:0000269|PubMed:31331973, ECO:0000269|PubMed:7523423}.; FUNCTION: [Isoform 2]: Interferes with isoform 1 resulting in a dominant negative effect on cell adhesion and migration (in vitro). {ECO:0000305|PubMed:2249781}.; FUNCTION: [Isoform 5]: Isoform 5 displaces isoform 1 in striated muscles. {ECO:0000250|UniProtKB:P09055}.; FUNCTION: (Microbial infection) Integrin ITGA2:ITGB1 acts as a receptor for Human echoviruses 1 and 8. {ECO:0000269|PubMed:8411387}.; FUNCTION: (Microbial infection) Acts as a receptor for Cytomegalovirus/HHV-5. {ECO:0000269|PubMed:20660204}.; FUNCTION: (Microbial infection) Acts as a receptor for Epstein-Barr virus/HHV-4. {ECO:0000269|PubMed:17945327}.; FUNCTION: (Microbial infection) Integrin ITGA5:ITGB1 acts as a receptor for Human parvovirus B19. {ECO:0000269|PubMed:12907437}.; FUNCTION: (Microbial infection) Integrin ITGA2:ITGB1 acts as a receptor for Human rotavirus. {ECO:0000269|PubMed:12941907}.; FUNCTION: (Microbial infection) Acts as a receptor for Mammalian reovirus. {ECO:0000269|PubMed:16501085}.; FUNCTION: (Microbial infection) In case of HIV-1 infection, integrin ITGA5:ITGB1 binding to extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions. {ECO:0000269|PubMed:10397733}.FUNCTION: Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell locomotion (By similarity). {ECO:0000250}.

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


Top

Fusion Gene Sequence for ITGB1-MYL12A


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

Top

Fusion Gene PPI Analysis for ITGB1-MYL12A


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


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


Top

Related Drugs for ITGB1-MYL12A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for ITGB1-MYL12A


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