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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein Structure
	pLDDT scores
	Ramachandran Plot of Fusion Protein Structure
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:ITGAV-C19orf43

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: ITGAV-C19orf43
	FusionPDB ID: 40488
	FusionGDB2.0 ID: 40488
		Hgene	Tgene
	Gene symbol	ITGAV	C19orf43
	Gene ID	3685	79002
	Gene name	integrin subunit alpha V	telomerase RNA component interacting RNase
	Synonyms	CD51\|MSK8\|VNRA\|VTNR	C19orf43\|TERCIR\|fSAP18
	Cytomap	2q32.1	19p13.13
	Type of gene	protein-coding	protein-coding
	Description	integrin alpha-Vantigen identified by monoclonal antibody L230integrin alphaVbeta3integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)vitronectin receptor subunit alpha	telomerase RNA component interacting RNaseMy029 proteinexoribonuclease TRIRuncharacterized protein C19orf43
	Modification date	20200313	20200313
	UniProtAcc	P06756	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000261023, ENST00000374907, ENST00000433736, ENST00000474571,	ENST00000588213, ENST00000592273, ENST00000242784,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	11 X 9 X 8=792	3 X 3 X 3=27
	# samples	13	4
	** MAII score	log2(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 (manual curation of fusion genes in FusionPDB)	PubMed: ITGAV [Title/Abstract] AND C19orf43 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	ITGAV(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 by not retaining the major functional domain in the partially deleted in-frame ORF. ITGAV-C19orf43 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. 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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	ITGAV	GO:0007155	cell adhesion	10218736
Hgene	ITGAV	GO:0008284	positive regulation of cell proliferation	19578119
Hgene	ITGAV	GO:0033627	cell adhesion mediated by integrin	12807887\|17158881
Hgene	ITGAV	GO:0034446	substrate adhesion-dependent cell spreading	24658351
Hgene	ITGAV	GO:0045785	positive regulation of cell adhesion	10708943
Hgene	ITGAV	GO:0050764	regulation of phagocytosis	10570297
Hgene	ITGAV	GO:0070588	calcium ion transmembrane transport	18395422
Hgene	ITGAV	GO:1901388	regulation of transforming growth factor beta activation	22278742
Hgene	ITGAV	GO:2000536	negative regulation of entry of bacterium into host cell	10570297
Tgene	C19orf43	GO:0016075	rRNA catabolic process	28322335
Tgene	C19orf43	GO:0090503	RNA phosphodiester bond hydrolysis, exonucleolytic	28322335

Fusion 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.

Fusion 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.

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	UCEC	TCGA-AP-A0LF-01A	ITGAV	chr2	187519435	+	C19orf43	chr19	12841882	-
ChimerDB4	UCEC	TCGA-AP-A0LF	ITGAV	chr2	187519435	+	C19orf43	chr19	12841882	-

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	Seq length (transcript)	BP loci (transcript)	Predicted start (transcript)	Predicted stop (transcript)	Seq length (amino acids)
ENST00000261023	ITGAV	chr2	187519435	+	ENST00000242784	C19orf43	chr19	12841882	-	2267	1838	49	1851	600
ENST00000374907	ITGAV	chr2	187519435	+	ENST00000242784	C19orf43	chr19	12841882	-	2144	1715	34	1728	564
ENST00000433736	ITGAV	chr2	187519435	+	ENST00000242784	C19orf43	chr19	12841882	-	1985	1556	130	1569	479

DeepORF 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.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000261023	ENST00000242784	ITGAV	chr2	187519435	+	C19orf43	chr19	12841882	-	0.002138075	0.9978619
ENST00000374907	ENST00000242784	ITGAV	chr2	187519435	+	C19orf43	chr19	12841882	-	0.002210048	0.99779
ENST00000433736	ENST00000242784	ITGAV	chr2	187519435	+	C19orf43	chr19	12841882	-	0.000801517	0.9991985

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Fusion Amino Acid Sequences

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

>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(amino acids)=564AA_BP=
MRCCPRPARSAPLVPGGRSEAQPSCLPRSCPGLAEKRAAGKFGRAQAAGRGHWAPRWGGGRWLPLPAWRPARTSAMAFPPRRRLRLGPRG
LPLLLSGLLLPLCRAFNLDVDSPAEYSGPEGSYFGFAVDFFVPSASSRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDAT
GNRDYAKDDPLEFKSHQWFGASVRSKQDKILACAPLYHWRTEMKQEREPVGTCFLQDGTKTVEYAPCRSRQLISDQVAEIVSKYDPNVYS
IKYNNQLATRTAQAIFDDSYLGYSVAVGDFNGDGIDDFVSGVPRAARTLGMVYIYDGKNMSSLYNFTGEQMAAYFGFSVAATDINGDDYA
DVFIGAPLFMDRGSDGKLQEVGQVSVSLQRASGDFQTTKLNGFEVFARFGSAIAPLGDLDQDGFNDIAIAAPYGGEDKKGIVYIFNGRST
GLNAVPSQILEGQWAARSMPPSFGYSMKGATDIDKNGYPDLIVGAFGVDRAILYRARPVITVNAGLEVYPSILNQDNKTCSLPGTALKVS

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

>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 Protein Functional Features

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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
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: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000261023

260_268

521.3333333333334

1049.0

Calcium binding

Ontology_term=ECO:0000255,ECO:0000269

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000261023

314_322

521.3333333333334

1049.0

Calcium binding

Ontology_term=ECO:0000255,ECO:0000269

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000261023

379_387

521.3333333333334

1049.0

Calcium binding

Ontology_term=ECO:0000255,ECO:0000269

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000261023

443_451

521.3333333333334

1049.0

Calcium binding

Ontology_term=ECO:0000255,ECO:0000269

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000374907

260_268

485.3333333333333

1013.0

Calcium binding

Ontology_term=ECO:0000255,ECO:0000269

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000374907

314_322

485.3333333333333

1013.0

Calcium binding

Ontology_term=ECO:0000255,ECO:0000269

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000374907

379_387

485.3333333333333

1013.0

Calcium binding

Ontology_term=ECO:0000255,ECO:0000269

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000374907

443_451

485.3333333333333

1013.0

Calcium binding

Ontology_term=ECO:0000255,ECO:0000269

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000433736

260_268

475.3333333333333

1003.0

Calcium binding

Ontology_term=ECO:0000255,ECO:0000269

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000433736

314_322

475.3333333333333

1003.0

Calcium binding

Ontology_term=ECO:0000255,ECO:0000269

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000433736

379_387

475.3333333333333

1003.0

Calcium binding

Ontology_term=ECO:0000255,ECO:0000269

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000433736

443_451

475.3333333333333

1003.0

Calcium binding

Ontology_term=ECO:0000255,ECO:0000269

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000261023

109_170

521.3333333333334

1049.0

Repeat

FG-GAP 2

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000261023

173_225

521.3333333333334

1049.0

Repeat

FG-GAP 3

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000261023

237_291

521.3333333333334

1049.0

Repeat

FG-GAP 4

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000261023

292_357

521.3333333333334

1049.0

Repeat

FG-GAP 5

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000261023

32_98

521.3333333333334

1049.0

Repeat

FG-GAP 1

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000261023

358_415

521.3333333333334

1049.0

Repeat

FG-GAP 6

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000261023

419_482

521.3333333333334

1049.0

Repeat

FG-GAP 7

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000374907

109_170

485.3333333333333

1013.0

Repeat

FG-GAP 2

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000374907

173_225

485.3333333333333

1013.0

Repeat

FG-GAP 3

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000374907

237_291

485.3333333333333

1013.0

Repeat

FG-GAP 4

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000374907

292_357

485.3333333333333

1013.0

Repeat

FG-GAP 5

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000374907

32_98

485.3333333333333

1013.0

Repeat

FG-GAP 1

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000374907

358_415

485.3333333333333

1013.0

Repeat

FG-GAP 6

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000374907

419_482

485.3333333333333

1013.0

Repeat

FG-GAP 7

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000433736

109_170

475.3333333333333

1003.0

Repeat

FG-GAP 2

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000433736

173_225

475.3333333333333

1003.0

Repeat

FG-GAP 3

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000433736

237_291

475.3333333333333

1003.0

Repeat

FG-GAP 4

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000433736

292_357

475.3333333333333

1003.0

Repeat

FG-GAP 5

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000433736

32_98

475.3333333333333

1003.0

Repeat

FG-GAP 1

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000433736

358_415

475.3333333333333

1003.0

Repeat

FG-GAP 6

- Not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000261023

1019_1023

521.3333333333334

1049.0

Motif

Note=GFFKR motif

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000374907

1019_1023

485.3333333333333

1013.0

Motif

Note=GFFKR motif

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000433736

1019_1023

475.3333333333333

1003.0

Motif

Note=GFFKR motif

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000433736

419_482

475.3333333333333

1003.0

Repeat

FG-GAP 7

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000261023

1017_1048

521.3333333333334

1049.0

Topological domain

Cytoplasmic

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000261023

31_992

521.3333333333334

1049.0

Topological domain

Extracellular

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000374907

1017_1048

485.3333333333333

1013.0

Topological domain

Cytoplasmic

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000374907

31_992

485.3333333333333

1013.0

Topological domain

Extracellular

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000433736

1017_1048

475.3333333333333

1003.0

Topological domain

Cytoplasmic

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000433736

31_992

475.3333333333333

1003.0

Topological domain

Extracellular

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000261023

993_1016

521.3333333333334

1049.0

Transmembrane

Helical

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000374907

993_1016

485.3333333333333

1013.0

Transmembrane

Helical

Hgene

ITGAV

chr2:187519435

chr19:12841882

ENST00000433736

993_1016

475.3333333333333

1003.0

Transmembrane

Helical

Tgene

C19orf43

chr2:187519435

chr19:12841882

ENST00000242784

20_25

141.0

177.0

Compositional bias

Note=Poly-Gly

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Fusion Protein Structures

PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

Fusion protein PDB link (fusion AA seq ID in FusionPDB)	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	AA seq	Len(AA seq)
PDB file >>>1271_ITGAV_187519435_C19orf43_12841882_1271_ITGAV_187519435_C19orf43_12841882_ranked_0.pdb	ITGAV	187519435	187519435	ENST00000242784	C19orf43	chr19	12841882	-	MRCCPRPARSAPLVPGGRSEAQPSCLPRSCPGLAEKRAAGKFGRAQAAGRGHWAPRWGGGRWLPLPAWRPARTSAMAFPPRRRLRLGPRG LPLLLSGLLLPLCRAFNLDVDSPAEYSGPEGSYFGFAVDFFVPSASSRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDAT GNRDYAKDDPLEFKSHQWFGASVRSKQDKILACAPLYHWRTEMKQEREPVGTCFLQDGTKTVEYAPCRSQDIDADGQGFCQGGFSIDFTK ADRVLLGGPGSFYWQGQLISDQVAEIVSKYDPNVYSIKYNNQLATRTAQAIFDDSYLGYSVAVGDFNGDGIDDFVSGVPRAARTLGMVYI YDGKNMSSLYNFTGEQMAAYFGFSVAATDINGDDYADVFIGAPLFMDRGSDGKLQEVGQVSVSLQRASGDFQTTKLNGFEVFARFGSAIA PLGDLDQDGFNDIAIAAPYGGEDKKGIVYIFNGRSTGLNAVPSQILEGQWAARSMPPSFGYSMKGATDIDKNGYPDLIVGAFGVDRAILY	600

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pLDDT score distribution

pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

ITGAV_pLDDT.png

pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

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Ramachandran Plot of Fusion Protein Structure

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.

Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
ITGAV
C19orf43

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs to ITGAV-C19orf43

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

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to ITGAV-C19orf43

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

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source