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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: 17821

FusionGeneSummary for ITGA3_NDUFV1

check button Fusion gene summary
Fusion gene informationFusion gene name: ITGA3_NDUFV1
Fusion gene ID: 17821
HgeneTgene
Gene symbol

ITGA3

NDUFV1

Gene ID

3675

4723

Gene nameintegrin subunit alpha 3NADH:ubiquinone oxidoreductase core subunit V1
SynonymsCD49C|FRP-2|GAP-B3|GAPB3|ILNEB|MSK18|VCA-2|VL3A|VLA3aCI-51K|CI51KD|UQOR1
Cytomap

17q21.33

11q13.2

Type of geneprotein-codingprotein-coding
Descriptionintegrin alpha-3CD49 antigen-like family member Calpha 3 subunit of VLA-3 receptorantigen CD49Cantigen identified by monoclonal antibody J143galactoprotein B3integrin alpha 3integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)testiNADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrialNADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDaNADH-ubiquinone oxidoreductase 51 kDa subunitcomplex I 51 kda subunitcomplex I 51kDa subunitcomplex I, mitochondrial respiratory chainm
Modification date2018052220180523
UniProtAcc

P26006

P49821

Ensembl transtripts involved in fusion geneENST00000544892, ENST00000320031, 
ENST00000007722, 
ENST00000322776, 
ENST00000532303, ENST00000529927, 
ENST00000415352, ENST00000526169, 
Fusion gene scores* DoF score7 X 7 X 5=24535 X 6 X 14=2940
# samples 737
** MAII scorelog2(7/245*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(37/2940*10)=-2.99021897920741
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ITGA3 [Title/Abstract] AND NDUFV1 [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
HgeneITGA3

GO:1903078

positive regulation of protein localization to plasma membrane

10455171


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
TCGARVCESCTCGA-C5-A2LV-01AITGA3chr17

48167844

+NDUFV1chr11

67375697

+
* 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
intron-intronENST00000544892ENST00000322776ITGA3chr17

48167844

+NDUFV1chr11

67375697

+
intron-intronENST00000544892ENST00000532303ITGA3chr17

48167844

+NDUFV1chr11

67375697

+
intron-intronENST00000544892ENST00000529927ITGA3chr17

48167844

+NDUFV1chr11

67375697

+
intron-intronENST00000544892ENST00000415352ITGA3chr17

48167844

+NDUFV1chr11

67375697

+
intron-intronENST00000544892ENST00000526169ITGA3chr17

48167844

+NDUFV1chr11

67375697

+
5CDS-intronENST00000320031ENST00000322776ITGA3chr17

48167844

+NDUFV1chr11

67375697

+
5CDS-intronENST00000320031ENST00000532303ITGA3chr17

48167844

+NDUFV1chr11

67375697

+
5CDS-intronENST00000320031ENST00000529927ITGA3chr17

48167844

+NDUFV1chr11

67375697

+
5CDS-intronENST00000320031ENST00000415352ITGA3chr17

48167844

+NDUFV1chr11

67375697

+
5CDS-intronENST00000320031ENST00000526169ITGA3chr17

48167844

+NDUFV1chr11

67375697

+
intron-intronENST00000007722ENST00000322776ITGA3chr17

48167844

+NDUFV1chr11

67375697

+
intron-intronENST00000007722ENST00000532303ITGA3chr17

48167844

+NDUFV1chr11

67375697

+
intron-intronENST00000007722ENST00000529927ITGA3chr17

48167844

+NDUFV1chr11

67375697

+
intron-intronENST00000007722ENST00000415352ITGA3chr17

48167844

+NDUFV1chr11

67375697

+
intron-intronENST00000007722ENST00000526169ITGA3chr17

48167844

+NDUFV1chr11

67375697

+

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FusionProtFeatures for ITGA3_NDUFV1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ITGA3

P26006

NDUFV1

P49821

Integrin alpha-3/beta-1 is a receptor for fibronectin,laminin, collagen, epiligrin, thrombospondin and CSPG4. Integrinalpha-3/beta-1 provides a docking site for FAP (seprase) atinvadopodia plasma membranes in a collagen-dependent manner andhence may participate in the adhesion, formation of invadopodiaand matrix degradation processes, promoting cell invasion. Alpha-3/beta-1 may mediate with LGALS3 the stimulation by CSPG4 ofendothelial cells migration. {ECO:0000269|PubMed:10455171,ECO:0000269|PubMed:15181153}. Core subunit of the mitochondrial membrane respiratorychain NADH dehydrogenase (Complex I) that is believed to belong tothe minimal assembly required for catalysis. Complex I functionsin the transfer of electrons from NADH to the respiratory chain.The immediate electron acceptor for the enzyme is believed to beubiquinone (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


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FusionGeneSequence for ITGA3_NDUFV1


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 ITGA3_NDUFV1


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
ITGA3BIN1, RABIF, ITGB1, CD9, TSPAN4, CD151, FHL2, LGALS8, ITGB4, ITGB5, PDIA3, CALR, FBXO6, EPHA2, SCGB1D1NDUFV1EWSR1, ICT1, COPS5, NDUFS8, NDUFS3, NDUFS7, NDUFS2, NDUFV2, NDUFS1, NDUFA9, NDUFB6, NDUFB10, TCOF1, VPS29, TMEM189, RRM1, NOTCH2, STMN1, TIMM9, HNRNPR, PNP, ABCD3, MPST, TOR1AIP1, ILF3, ERGIC1, DNAJB11, CPT1A, HTRA2, PAICS, HSPA1L, PALLD, SDHA, RNASET2, ADRB2, NDUFA8, COX5A, EEF2, MRPL45, ANXA11, ATP1A1, ATP1B1, ATP5F1, ATP6V0D1, FH, MTCH1, NDUFA10, NDUFA2, NDUFB8, NDUFS4, POR, SLC9A3R2, TOMM40, TPI1, UQCRB, VDAC2, PDHA1, PHB2, PSMD7, SDHB, STXBP1, UQCRFS1, NPHP1, NDUFA12, NDUFS5, NDUFA11, NDUFA13, NDUFS6, OXCT1, NDUFV3, ND1, ND5, NDUFB4, TIMMDC1, VAPA, GOLT1B, FOXQ1, NDUFA4, C15orf48, OCIAD1, COQ2, PAK7, COX6B1, C7orf55, C6orf203, COA3, NDUFB11, TRIM25


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 ITGA3_NDUFV1


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 ITGA3_NDUFV1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneITGA3C3553636INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL2ORPHANET;UNIPROT
TgeneNDUFV1C1838979MITOCHONDRIAL COMPLEX I DEFICIENCY2CTD_human;UNIPROT
TgeneNDUFV1C0005586Bipolar Disorder1PSYGENET
TgeneNDUFV1C0023264Leigh Disease1CTD_human;ORPHANET;UNIPROT
TgeneNDUFV1C0029408Degenerative polyarthritis1CTD_human
TgeneNDUFV1C0036341Schizophrenia1PSYGENET
TgeneNDUFV1C0038356Stomach Neoplasms1CTD_human
TgeneNDUFV1C0041696Unipolar Depression1PSYGENET
TgeneNDUFV1C1269683Major Depressive Disorder1PSYGENET