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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ITGAV-C19orf43 (FusionGDB2 ID:40488)

Fusion Gene Summary for ITGAV-C19orf43

check button Fusion gene summary
Fusion gene informationFusion gene name: ITGAV-C19orf43
Fusion gene ID: 40488
HgeneTgene
Gene symbol

ITGAV

C19orf43

Gene ID

3685

79002

Gene nameintegrin subunit alpha Vtelomerase RNA component interacting RNase
SynonymsCD51|MSK8|VNRA|VTNRC19orf43|TERCIR|fSAP18
Cytomap

2q32.1

19p13.13

Type of geneprotein-codingprotein-coding
Descriptionintegrin alpha-Vantigen identified by monoclonal antibody L230integrin alphaVbeta3integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)vitronectin receptor subunit alphatelomerase RNA component interacting RNaseMy029 proteinexoribonuclease TRIRuncharacterized protein C19orf43
Modification date2020031320200313
UniProtAcc

P06756

.
Ensembl transtripts involved in fusion geneENST00000261023, ENST00000374907, 
ENST00000433736, ENST00000474571, 
ENST00000588213, ENST00000592273, 
ENST00000242784, 
Fusion gene scores* DoF score11 X 9 X 8=7923 X 3 X 3=27
# samples 134
** MAII scorelog2(13/792*10)=-2.60698880705116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/27*10)=0.567040592723894
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ITGAV [Title/Abstract] AND C19orf43 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointITGAV(187519435)-C19orf43(12841882), # samples:2
Anticipated loss of major functional domain due to fusion event.ITGAV-C19orf43 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
ITGAV-C19orf43 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ITGAV-C19orf43 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
ITGAV-C19orf43 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
HgeneITGAV

GO:0007155

cell adhesion

10218736

HgeneITGAV

GO:0008284

positive regulation of cell proliferation

19578119

HgeneITGAV

GO:0033627

cell adhesion mediated by integrin

12807887|17158881

HgeneITGAV

GO:0034446

substrate adhesion-dependent cell spreading

24658351

HgeneITGAV

GO:0045785

positive regulation of cell adhesion

10708943

HgeneITGAV

GO:0050764

regulation of phagocytosis

10570297

HgeneITGAV

GO:0070588

calcium ion transmembrane transport

18395422

HgeneITGAV

GO:1901388

regulation of transforming growth factor beta activation

22278742

HgeneITGAV

GO:2000536

negative regulation of entry of bacterium into host cell

10570297

TgeneC19orf43

GO:0016075

rRNA catabolic process

28322335

TgeneC19orf43

GO:0090503

RNA phosphodiester bond hydrolysis, exonucleolytic

28322335


check buttonFusion gene breakpoints across ITGAV (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 C19orf43 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4UCECTCGA-AP-A0LF-01AITGAVchr2

187519435

+C19orf43chr19

12841882

-
ChimerDB4UCECTCGA-AP-A0LFITGAVchr2

187519435

+C19orf43chr19

12841882

-


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Fusion Gene ORF analysis for ITGAV-C19orf43

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-3UTRENST00000261023ENST00000588213ITGAVchr2

187519435

+C19orf43chr19

12841882

-
5CDS-3UTRENST00000374907ENST00000588213ITGAVchr2

187519435

+C19orf43chr19

12841882

-
5CDS-3UTRENST00000433736ENST00000588213ITGAVchr2

187519435

+C19orf43chr19

12841882

-
Frame-shiftENST00000261023ENST00000592273ITGAVchr2

187519435

+C19orf43chr19

12841882

-
Frame-shiftENST00000374907ENST00000592273ITGAVchr2

187519435

+C19orf43chr19

12841882

-
Frame-shiftENST00000433736ENST00000592273ITGAVchr2

187519435

+C19orf43chr19

12841882

-
In-frameENST00000261023ENST00000242784ITGAVchr2

187519435

+C19orf43chr19

12841882

-
In-frameENST00000374907ENST00000242784ITGAVchr2

187519435

+C19orf43chr19

12841882

-
In-frameENST00000433736ENST00000242784ITGAVchr2

187519435

+C19orf43chr19

12841882

-
intron-3CDSENST00000474571ENST00000242784ITGAVchr2

187519435

+C19orf43chr19

12841882

-
intron-3CDSENST00000474571ENST00000592273ITGAVchr2

187519435

+C19orf43chr19

12841882

-
intron-3UTRENST00000474571ENST00000588213ITGAVchr2

187519435

+C19orf43chr19

12841882

-

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)
ENST00000261023ITGAVchr2187519435+ENST00000242784C19orf43chr1912841882-22671838491851600
ENST00000374907ITGAVchr2187519435+ENST00000242784C19orf43chr1912841882-21441715341728564
ENST00000433736ITGAVchr2187519435+ENST00000242784C19orf43chr1912841882-198515561301569479

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
ENST00000261023ENST00000242784ITGAVchr2187519435+C19orf43chr1912841882-0.0021380750.9978619
ENST00000374907ENST00000242784ITGAVchr2187519435+C19orf43chr1912841882-0.0022100480.99779
ENST00000433736ENST00000242784ITGAVchr2187519435+C19orf43chr1912841882-0.0008015170.9991985

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Fusion Genomic Features for ITGAV-C19orf43


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)

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.
genomic feature

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.

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Fusion Protein Features for ITGAV-C19orf43


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/chr2:187519435/chr19:12841882)
- 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
ITGAV

P06756

.
FUNCTION: The alpha-V (ITGAV) integrins are receptors for vitronectin, cytotactin, fibronectin, fibrinogen, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin and vWF. They recognize the sequence R-G-D in a wide array of ligands. ITGAV:ITGB3 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signaling (PubMed:23125415). ITGAV:ITGB3 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGAV:ITGB3 binds to FGF1 and this binding is essential for FGF1 signaling (PubMed:18441324). ITGAV:ITGB3 binds to FGF2 and this binding is essential for FGF2 signaling (PubMed:28302677). ITGAV:ITGB3 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:19578119). ITGAV:ITGB3 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464). ITGAV:ITGB3 binds to IL1B and this binding is essential for IL1B signaling (PubMed:29030430). ITGAV:ITGB3 binds 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). ITGAV:ITGB3 and ITGAV:ITGB6 act as a receptor for fibrillin-1 (FBN1) and mediate R-G-D-dependent cell adhesion to FBN1 (PubMed:12807887, PubMed:17158881). Integrin alpha-V/beta-6 or alpha-V/beta-8 (ITGAV:ITGB6 or ITGAV:ITGB8) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation (PubMed:15184403, PubMed:22278742, PubMed:28117447). ITGAV:ITGB3 act as a receptor for CD40LG (PubMed:31331973). {ECO:0000269|PubMed:12807887, ECO:0000269|PubMed:15184403, ECO:0000269|PubMed:17158881, ECO:0000269|PubMed:18441324, ECO:0000269|PubMed:18635536, ECO:0000269|PubMed:19578119, ECO:0000269|PubMed:20682778, ECO:0000269|PubMed:22278742, ECO:0000269|PubMed:23125415, ECO:0000269|PubMed:25398877, ECO:0000269|PubMed:28117447, ECO:0000269|PubMed:28302677, ECO:0000269|PubMed:28873464, ECO:0000269|PubMed:29030430, ECO:0000269|PubMed:31331973}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB5 acts as a receptor for Adenovirus type C. {ECO:0000269|PubMed:20615244}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB5 and ITGAV:ITGB3 act as receptors for Coxsackievirus A9 and B1. {ECO:0000269|PubMed:15194773, ECO:0000269|PubMed:7519807, ECO:0000269|PubMed:9426447}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Herpes virus 8/HHV-8. {ECO:0000269|PubMed:18045938}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB6 acts as a receptor for herpes simplex 1/HHV-1. {ECO:0000269|PubMed:24367260}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for Human parechovirus 1. {ECO:0000269|PubMed:11160695}.; FUNCTION: (Microbial infection) Integrin ITGAV:ITGB3 acts as a receptor for West nile virus. {ECO:0000269|PubMed:23658209}.; FUNCTION: (Microbial infection) In case of HIV-1 infection, the interaction with extracellular viral Tat protein seems to enhance angiogenesis in Kaposi's sarcoma lesions. {ECO:0000269|PubMed:10397733}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (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
HgeneITGAVchr2:187519435chr19:12841882ENST00000261023+1630260_2685211049.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
HgeneITGAVchr2:187519435chr19:12841882ENST00000261023+1630314_3225211049.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
HgeneITGAVchr2:187519435chr19:12841882ENST00000261023+1630379_3875211049.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
HgeneITGAVchr2:187519435chr19:12841882ENST00000261023+1630443_4515211049.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
HgeneITGAVchr2:187519435chr19:12841882ENST00000374907+1428260_2684851013.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
HgeneITGAVchr2:187519435chr19:12841882ENST00000374907+1428314_3224851013.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
HgeneITGAVchr2:187519435chr19:12841882ENST00000374907+1428379_3874851013.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
HgeneITGAVchr2:187519435chr19:12841882ENST00000374907+1428443_4514851013.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
HgeneITGAVchr2:187519435chr19:12841882ENST00000433736+1630260_2684751003.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
HgeneITGAVchr2:187519435chr19:12841882ENST00000433736+1630314_3224751003.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
HgeneITGAVchr2:187519435chr19:12841882ENST00000433736+1630379_3874751003.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
HgeneITGAVchr2:187519435chr19:12841882ENST00000433736+1630443_4514751003.0Calcium bindingOntology_term=ECO:0000255,ECO:0000269
HgeneITGAVchr2:187519435chr19:12841882ENST00000261023+1630109_1705211049.0RepeatFG-GAP 2
HgeneITGAVchr2:187519435chr19:12841882ENST00000261023+1630173_2255211049.0RepeatFG-GAP 3
HgeneITGAVchr2:187519435chr19:12841882ENST00000261023+1630237_2915211049.0RepeatFG-GAP 4
HgeneITGAVchr2:187519435chr19:12841882ENST00000261023+1630292_3575211049.0RepeatFG-GAP 5
HgeneITGAVchr2:187519435chr19:12841882ENST00000261023+163032_985211049.0RepeatFG-GAP 1
HgeneITGAVchr2:187519435chr19:12841882ENST00000261023+1630358_4155211049.0RepeatFG-GAP 6
HgeneITGAVchr2:187519435chr19:12841882ENST00000261023+1630419_4825211049.0RepeatFG-GAP 7
HgeneITGAVchr2:187519435chr19:12841882ENST00000374907+1428109_1704851013.0RepeatFG-GAP 2
HgeneITGAVchr2:187519435chr19:12841882ENST00000374907+1428173_2254851013.0RepeatFG-GAP 3
HgeneITGAVchr2:187519435chr19:12841882ENST00000374907+1428237_2914851013.0RepeatFG-GAP 4
HgeneITGAVchr2:187519435chr19:12841882ENST00000374907+1428292_3574851013.0RepeatFG-GAP 5
HgeneITGAVchr2:187519435chr19:12841882ENST00000374907+142832_984851013.0RepeatFG-GAP 1
HgeneITGAVchr2:187519435chr19:12841882ENST00000374907+1428358_4154851013.0RepeatFG-GAP 6
HgeneITGAVchr2:187519435chr19:12841882ENST00000374907+1428419_4824851013.0RepeatFG-GAP 7
HgeneITGAVchr2:187519435chr19:12841882ENST00000433736+1630109_1704751003.0RepeatFG-GAP 2
HgeneITGAVchr2:187519435chr19:12841882ENST00000433736+1630173_2254751003.0RepeatFG-GAP 3
HgeneITGAVchr2:187519435chr19:12841882ENST00000433736+1630237_2914751003.0RepeatFG-GAP 4
HgeneITGAVchr2:187519435chr19:12841882ENST00000433736+1630292_3574751003.0RepeatFG-GAP 5
HgeneITGAVchr2:187519435chr19:12841882ENST00000433736+163032_984751003.0RepeatFG-GAP 1
HgeneITGAVchr2:187519435chr19:12841882ENST00000433736+1630358_4154751003.0RepeatFG-GAP 6

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneITGAVchr2:187519435chr19:12841882ENST00000261023+16301019_10235211049.0MotifNote=GFFKR motif
HgeneITGAVchr2:187519435chr19:12841882ENST00000374907+14281019_10234851013.0MotifNote=GFFKR motif
HgeneITGAVchr2:187519435chr19:12841882ENST00000433736+16301019_10234751003.0MotifNote=GFFKR motif
HgeneITGAVchr2:187519435chr19:12841882ENST00000433736+1630419_4824751003.0RepeatFG-GAP 7
HgeneITGAVchr2:187519435chr19:12841882ENST00000261023+16301017_10485211049.0Topological domainCytoplasmic
HgeneITGAVchr2:187519435chr19:12841882ENST00000261023+163031_9925211049.0Topological domainExtracellular
HgeneITGAVchr2:187519435chr19:12841882ENST00000374907+14281017_10484851013.0Topological domainCytoplasmic
HgeneITGAVchr2:187519435chr19:12841882ENST00000374907+142831_9924851013.0Topological domainExtracellular
HgeneITGAVchr2:187519435chr19:12841882ENST00000433736+16301017_10484751003.0Topological domainCytoplasmic
HgeneITGAVchr2:187519435chr19:12841882ENST00000433736+163031_9924751003.0Topological domainExtracellular
HgeneITGAVchr2:187519435chr19:12841882ENST00000261023+1630993_10165211049.0TransmembraneHelical
HgeneITGAVchr2:187519435chr19:12841882ENST00000374907+1428993_10164851013.0TransmembraneHelical
HgeneITGAVchr2:187519435chr19:12841882ENST00000433736+1630993_10164751003.0TransmembraneHelical
TgeneC19orf43chr2:187519435chr19:12841882ENST000002427841320_25141177.0Compositional biasNote=Poly-Gly


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Fusion Gene Sequence for ITGAV-C19orf43


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.
>40488_40488_1_ITGAV-C19orf43_ITGAV_chr2_187519435_ENST00000261023_C19orf43_chr19_12841882_ENST00000242784_length(transcript)=2267nt_BP=1838nt
CCTCAGACGCTGCGTGGAGCGGCGGAGCCGGAGGGAAGCAAAGGACCGTCTGCGCTGCTGTCCCCGCCCCGCGCGCTCTGCGCCCCTCGT
CCCTGGCGGTCGCTCCGAAGCTCAGCCCTCTTGCCTGCCCCGGAGCTGTCCCGGGCTAGCCGAGAAGAGAGCGGCCGGCAAGTTTGGGCG
CGCGCAGGCGGCGGGCCGCGGGCACTGGGCGCCTCGCTGGGGCGGGGGGAGGTGGCTACCGCTCCCGGCTTGGCGTCCCGCGCGCACTTC
GGCGATGGCTTTTCCGCCGCGGCGACGGCTGCGCCTCGGTCCCCGCGGCCTCCCGCTTCTTCTCTCGGGACTCCTGCTACCTCTGTGCCG
CGCCTTCAACCTAGACGTGGACAGTCCTGCCGAGTACTCTGGCCCCGAGGGAAGTTACTTCGGCTTCGCCGTGGATTTCTTCGTGCCCAG
CGCGTCTTCCCGGATGTTTCTTCTCGTGGGAGCTCCCAAAGCAAACACCACCCAGCCTGGGATTGTGGAAGGAGGGCAGGTCCTCAAATG
TGACTGGTCTTCTACCCGCCGGTGCCAGCCAATTGAATTTGATGCAACAGGCAATAGAGATTATGCCAAGGATGATCCATTGGAATTTAA
GTCCCATCAGTGGTTTGGAGCATCTGTGAGGTCGAAACAGGATAAAATTTTGGCCTGTGCCCCATTGTACCATTGGAGAACTGAGATGAA
ACAGGAGCGAGAGCCTGTTGGAACATGCTTTCTTCAAGATGGAACAAAGACTGTTGAGTATGCTCCATGTAGATCACAAGATATTGATGC
TGATGGACAGGGATTTTGTCAAGGAGGATTCAGCATTGATTTTACTAAAGCTGACAGAGTACTTCTTGGTGGTCCTGGTAGCTTTTATTG
GCAAGGTCAGCTTATTTCGGATCAAGTGGCAGAAATCGTATCTAAATACGACCCCAATGTTTACAGCATCAAGTATAATAACCAATTAGC
AACTCGGACTGCACAAGCTATTTTTGATGACAGCTATTTGGGTTATTCTGTGGCTGTCGGAGATTTCAATGGTGATGGCATAGATGACTT
TGTTTCAGGAGTTCCAAGAGCAGCAAGGACTTTGGGAATGGTTTATATTTATGATGGGAAGAACATGTCCTCCTTATACAATTTTACTGG
CGAGCAGATGGCTGCATATTTCGGATTTTCTGTAGCTGCCACTGACATTAATGGAGATGATTATGCAGATGTGTTTATTGGAGCACCTCT
CTTCATGGATCGTGGCTCTGATGGCAAACTCCAAGAGGTGGGGCAGGTCTCAGTGTCTCTACAGAGAGCTTCAGGAGACTTCCAGACGAC
AAAGCTGAATGGATTTGAGGTCTTTGCACGGTTTGGCAGTGCCATAGCTCCTTTGGGAGATCTGGACCAGGATGGTTTCAATGATATTGC
AATTGCTGCTCCATATGGGGGTGAAGATAAAAAAGGAATTGTTTATATCTTCAATGGAAGATCAACAGGCTTGAACGCAGTCCCATCTCA
AATCCTTGAAGGGCAGTGGGCTGCTCGAAGCATGCCACCAAGCTTTGGCTATTCAATGAAAGGAGCCACAGATATAGACAAAAATGGATA
TCCAGACTTAATTGTAGGAGCTTTTGGTGTAGATCGAGCTATCTTATACAGGGCCAGACCAGTTATCACTGTAAATGCTGGTCTTGAAGT
GTACCCTAGCATTTTAAATCAAGACAATAAAACCTGCTCACTGCCTGGAACAGCTCTCAAAGTTTCCTGTTTTAATGTTAGGTTCTGCTT
AAAGGCAGATGGCAAAGGAGTACTTCCCAGGAAACTTAGTATTAACAAGTAAAGGTGACGCGTGGGCCAAGTACATGGCAGAAGTGAAAA
AGTACAAAGCTCACCAGTGCGGTGACGATGATAAAACTCGGCCCCTGGTGAAATGACGCCCCTCCCCCACCTGCCCATGGCCTGGGACTC
TCTGCGATGTACATAACTATTTAATGCAGCGGCAGCGGCGACAGCCTTCCCTGAGAGGACTTAAAAGCAGAAGGAAACCGAGATGCTTCC
CGCAGCCGTGGACGATTCTCCAGGACTCTTTTTTTACCTTGAGCACTTGCCTCGTGAGACTTCATAGAACAGTGGTTTACTGTCCCCCCC
TTCTCACCTCCTCATTCTCTCTGGCTCTTTCTGTCTTCCTCTTCTCACCCTCCTCCCTCCCCTTAGCCATCACTTCTGGGAAGTAAAGAA

>40488_40488_1_ITGAV-C19orf43_ITGAV_chr2_187519435_ENST00000261023_C19orf43_chr19_12841882_ENST00000242784_length(amino acids)=600AA_BP=
MRCCPRPARSAPLVPGGRSEAQPSCLPRSCPGLAEKRAAGKFGRAQAAGRGHWAPRWGGGRWLPLPAWRPARTSAMAFPPRRRLRLGPRG
LPLLLSGLLLPLCRAFNLDVDSPAEYSGPEGSYFGFAVDFFVPSASSRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDAT
GNRDYAKDDPLEFKSHQWFGASVRSKQDKILACAPLYHWRTEMKQEREPVGTCFLQDGTKTVEYAPCRSQDIDADGQGFCQGGFSIDFTK
ADRVLLGGPGSFYWQGQLISDQVAEIVSKYDPNVYSIKYNNQLATRTAQAIFDDSYLGYSVAVGDFNGDGIDDFVSGVPRAARTLGMVYI
YDGKNMSSLYNFTGEQMAAYFGFSVAATDINGDDYADVFIGAPLFMDRGSDGKLQEVGQVSVSLQRASGDFQTTKLNGFEVFARFGSAIA
PLGDLDQDGFNDIAIAAPYGGEDKKGIVYIFNGRSTGLNAVPSQILEGQWAARSMPPSFGYSMKGATDIDKNGYPDLIVGAFGVDRAILY

--------------------------------------------------------------
>40488_40488_2_ITGAV-C19orf43_ITGAV_chr2_187519435_ENST00000374907_C19orf43_chr19_12841882_ENST00000242784_length(transcript)=2144nt_BP=1715nt
GGAGCGGCGGAGCCGGAGGGAAGCAAAGGACCGTCTGCGCTGCTGTCCCCGCCCCGCGCGCTCTGCGCCCCTCGTCCCTGGCGGTCGCTC
CGAAGCTCAGCCCTCTTGCCTGCCCCGGAGCTGTCCCGGGCTAGCCGAGAAGAGAGCGGCCGGCAAGTTTGGGCGCGCGCAGGCGGCGGG
CCGCGGGCACTGGGCGCCTCGCTGGGGCGGGGGGAGGTGGCTACCGCTCCCGGCTTGGCGTCCCGCGCGCACTTCGGCGATGGCTTTTCC
GCCGCGGCGACGGCTGCGCCTCGGTCCCCGCGGCCTCCCGCTTCTTCTCTCGGGACTCCTGCTACCTCTGTGCCGCGCCTTCAACCTAGA
CGTGGACAGTCCTGCCGAGTACTCTGGCCCCGAGGGAAGTTACTTCGGCTTCGCCGTGGATTTCTTCGTGCCCAGCGCGTCTTCCCGGAT
GTTTCTTCTCGTGGGAGCTCCCAAAGCAAACACCACCCAGCCTGGGATTGTGGAAGGAGGGCAGGTCCTCAAATGTGACTGGTCTTCTAC
CCGCCGGTGCCAGCCAATTGAATTTGATGCAACAGGCAATAGAGATTATGCCAAGGATGATCCATTGGAATTTAAGTCCCATCAGTGGTT
TGGAGCATCTGTGAGGTCGAAACAGGATAAAATTTTGGCCTGTGCCCCATTGTACCATTGGAGAACTGAGATGAAACAGGAGCGAGAGCC
TGTTGGAACATGCTTTCTTCAAGATGGAACAAAGACTGTTGAGTATGCTCCATGTAGATCACGTCAGCTTATTTCGGATCAAGTGGCAGA
AATCGTATCTAAATACGACCCCAATGTTTACAGCATCAAGTATAATAACCAATTAGCAACTCGGACTGCACAAGCTATTTTTGATGACAG
CTATTTGGGTTATTCTGTGGCTGTCGGAGATTTCAATGGTGATGGCATAGATGACTTTGTTTCAGGAGTTCCAAGAGCAGCAAGGACTTT
GGGAATGGTTTATATTTATGATGGGAAGAACATGTCCTCCTTATACAATTTTACTGGCGAGCAGATGGCTGCATATTTCGGATTTTCTGT
AGCTGCCACTGACATTAATGGAGATGATTATGCAGATGTGTTTATTGGAGCACCTCTCTTCATGGATCGTGGCTCTGATGGCAAACTCCA
AGAGGTGGGGCAGGTCTCAGTGTCTCTACAGAGAGCTTCAGGAGACTTCCAGACGACAAAGCTGAATGGATTTGAGGTCTTTGCACGGTT
TGGCAGTGCCATAGCTCCTTTGGGAGATCTGGACCAGGATGGTTTCAATGATATTGCAATTGCTGCTCCATATGGGGGTGAAGATAAAAA
AGGAATTGTTTATATCTTCAATGGAAGATCAACAGGCTTGAACGCAGTCCCATCTCAAATCCTTGAAGGGCAGTGGGCTGCTCGAAGCAT
GCCACCAAGCTTTGGCTATTCAATGAAAGGAGCCACAGATATAGACAAAAATGGATATCCAGACTTAATTGTAGGAGCTTTTGGTGTAGA
TCGAGCTATCTTATACAGGGCCAGACCAGTTATCACTGTAAATGCTGGTCTTGAAGTGTACCCTAGCATTTTAAATCAAGACAATAAAAC
CTGCTCACTGCCTGGAACAGCTCTCAAAGTTTCCTGTTTTAATGTTAGGTTCTGCTTAAAGGCAGATGGCAAAGGAGTACTTCCCAGGAA
ACTTAGTATTAACAAGTAAAGGTGACGCGTGGGCCAAGTACATGGCAGAAGTGAAAAAGTACAAAGCTCACCAGTGCGGTGACGATGATA
AAACTCGGCCCCTGGTGAAATGACGCCCCTCCCCCACCTGCCCATGGCCTGGGACTCTCTGCGATGTACATAACTATTTAATGCAGCGGC
AGCGGCGACAGCCTTCCCTGAGAGGACTTAAAAGCAGAAGGAAACCGAGATGCTTCCCGCAGCCGTGGACGATTCTCCAGGACTCTTTTT
TTACCTTGAGCACTTGCCTCGTGAGACTTCATAGAACAGTGGTTTACTGTCCCCCCCTTCTCACCTCCTCATTCTCTCTGGCTCTTTCTG

>40488_40488_2_ITGAV-C19orf43_ITGAV_chr2_187519435_ENST00000374907_C19orf43_chr19_12841882_ENST00000242784_length(amino acids)=564AA_BP=
MRCCPRPARSAPLVPGGRSEAQPSCLPRSCPGLAEKRAAGKFGRAQAAGRGHWAPRWGGGRWLPLPAWRPARTSAMAFPPRRRLRLGPRG
LPLLLSGLLLPLCRAFNLDVDSPAEYSGPEGSYFGFAVDFFVPSASSRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDAT
GNRDYAKDDPLEFKSHQWFGASVRSKQDKILACAPLYHWRTEMKQEREPVGTCFLQDGTKTVEYAPCRSRQLISDQVAEIVSKYDPNVYS
IKYNNQLATRTAQAIFDDSYLGYSVAVGDFNGDGIDDFVSGVPRAARTLGMVYIYDGKNMSSLYNFTGEQMAAYFGFSVAATDINGDDYA
DVFIGAPLFMDRGSDGKLQEVGQVSVSLQRASGDFQTTKLNGFEVFARFGSAIAPLGDLDQDGFNDIAIAAPYGGEDKKGIVYIFNGRST
GLNAVPSQILEGQWAARSMPPSFGYSMKGATDIDKNGYPDLIVGAFGVDRAILYRARPVITVNAGLEVYPSILNQDNKTCSLPGTALKVS

--------------------------------------------------------------
>40488_40488_3_ITGAV-C19orf43_ITGAV_chr2_187519435_ENST00000433736_C19orf43_chr19_12841882_ENST00000242784_length(transcript)=1985nt_BP=1556nt
CTTTGTAGCTCCTGGAGATTCAATTCTTTCTTGCCAGGGTCTTTCTACCTCTGCCTCACATATTCCCTCCATCTCTTCATTCCACTTCCC
TCATCCCCACCCCCCACTCCCCTCCATCCTCAATACACAAATGCTCCTAGGCACCCTCCTTCTGATCCTGTACATCTTAATGTTGTGCCG
GATGTTTCTTCTCGTGGGAGCTCCCAAAGCAAACACCACCCAGCCTGGGATTGTGGAAGGAGGGCAGGTCCTCAAATGTGACTGGTCTTC
TACCCGCCGGTGCCAGCCAATTGAATTTGATGCAACAGGCAATAGAGATTATGCCAAGGATGATCCATTGGAATTTAAGTCCCATCAGTG
GTTTGGAGCATCTGTGAGGTCGAAACAGGATAAAATTTTGGCCTGTGCCCCATTGTACCATTGGAGAACTGAGATGAAACAGGAGCGAGA
GCCTGTTGGAACATGCTTTCTTCAAGATGGAACAAAGACTGTTGAGTATGCTCCATGTAGATCACAAGATATTGATGCTGATGGACAGGG
ATTTTGTCAAGGAGGATTCAGCATTGATTTTACTAAAGCTGACAGAGTACTTCTTGGTGGTCCTGGTAGCTTTTATTGGCAAGGTCAGCT
TATTTCGGATCAAGTGGCAGAAATCGTATCTAAATACGACCCCAATGTTTACAGCATCAAGTATAATAACCAATTAGCAACTCGGACTGC
ACAAGCTATTTTTGATGACAGCTATTTGGGTTATTCTGTGGCTGTCGGAGATTTCAATGGTGATGGCATAGATGACTTTGTTTCAGGAGT
TCCAAGAGCAGCAAGGACTTTGGGAATGGTTTATATTTATGATGGGAAGAACATGTCCTCCTTATACAATTTTACTGGCGAGCAGATGGC
TGCATATTTCGGATTTTCTGTAGCTGCCACTGACATTAATGGAGATGATTATGCAGATGTGTTTATTGGAGCACCTCTCTTCATGGATCG
TGGCTCTGATGGCAAACTCCAAGAGGTGGGGCAGGTCTCAGTGTCTCTACAGAGAGCTTCAGGAGACTTCCAGACGACAAAGCTGAATGG
ATTTGAGGTCTTTGCACGGTTTGGCAGTGCCATAGCTCCTTTGGGAGATCTGGACCAGGATGGTTTCAATGATATTGCAATTGCTGCTCC
ATATGGGGGTGAAGATAAAAAAGGAATTGTTTATATCTTCAATGGAAGATCAACAGGCTTGAACGCAGTCCCATCTCAAATCCTTGAAGG
GCAGTGGGCTGCTCGAAGCATGCCACCAAGCTTTGGCTATTCAATGAAAGGAGCCACAGATATAGACAAAAATGGATATCCAGACTTAAT
TGTAGGAGCTTTTGGTGTAGATCGAGCTATCTTATACAGGGCCAGACCAGTTATCACTGTAAATGCTGGTCTTGAAGTGTACCCTAGCAT
TTTAAATCAAGACAATAAAACCTGCTCACTGCCTGGAACAGCTCTCAAAGTTTCCTGTTTTAATGTTAGGTTCTGCTTAAAGGCAGATGG
CAAAGGAGTACTTCCCAGGAAACTTAGTATTAACAAGTAAAGGTGACGCGTGGGCCAAGTACATGGCAGAAGTGAAAAAGTACAAAGCTC
ACCAGTGCGGTGACGATGATAAAACTCGGCCCCTGGTGAAATGACGCCCCTCCCCCACCTGCCCATGGCCTGGGACTCTCTGCGATGTAC
ATAACTATTTAATGCAGCGGCAGCGGCGACAGCCTTCCCTGAGAGGACTTAAAAGCAGAAGGAAACCGAGATGCTTCCCGCAGCCGTGGA
CGATTCTCCAGGACTCTTTTTTTACCTTGAGCACTTGCCTCGTGAGACTTCATAGAACAGTGGTTTACTGTCCCCCCCTTCTCACCTCCT
CATTCTCTCTGGCTCTTTCTGTCTTCCTCTTCTCACCCTCCTCCCTCCCCTTAGCCATCACTTCTGGGAAGTAAAGAACTTGACTTAGTG

>40488_40488_3_ITGAV-C19orf43_ITGAV_chr2_187519435_ENST00000433736_C19orf43_chr19_12841882_ENST00000242784_length(amino acids)=479AA_BP=
MLLGTLLLILYILMLCRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDATGNRDYAKDDPLEFKSHQWFGASVRSKQDKIL
ACAPLYHWRTEMKQEREPVGTCFLQDGTKTVEYAPCRSQDIDADGQGFCQGGFSIDFTKADRVLLGGPGSFYWQGQLISDQVAEIVSKYD
PNVYSIKYNNQLATRTAQAIFDDSYLGYSVAVGDFNGDGIDDFVSGVPRAARTLGMVYIYDGKNMSSLYNFTGEQMAAYFGFSVAATDIN
GDDYADVFIGAPLFMDRGSDGKLQEVGQVSVSLQRASGDFQTTKLNGFEVFARFGSAIAPLGDLDQDGFNDIAIAAPYGGEDKKGIVYIF
NGRSTGLNAVPSQILEGQWAARSMPPSFGYSMKGATDIDKNGYPDLIVGAFGVDRAILYRARPVITVNAGLEVYPSILNQDNKTCSLPGT

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

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Fusion Gene PPI Analysis for ITGAV-C19orf43


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


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Related Drugs for ITGAV-C19orf43


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

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Related Diseases for ITGAV-C19orf43


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