FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 8266

FusionGeneSummary for CPNE1_NDUFV1

check button Fusion gene summary
Fusion gene informationFusion gene name: CPNE1_NDUFV1
Fusion gene ID: 8266
HgeneTgene
Gene symbol

CPNE1

NDUFV1

Gene ID

8904

4723

Gene namecopine 1NADH:ubiquinone oxidoreductase core subunit V1
SynonymsCOPN1|CPN1CI-51K|CI51KD|UQOR1
Cytomap

20q11.22

11q13.2

Type of geneprotein-codingprotein-coding
Descriptioncopine-1chromobindin 17copine INADH 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 date2018052320180523
UniProtAcc

Q99829

P49821

Ensembl transtripts involved in fusion geneENST00000352393, ENST00000317677, 
ENST00000397445, ENST00000317619, 
ENST00000397443, ENST00000397446, 
ENST00000397442, ENST00000475146, 
ENST00000322776, ENST00000532303, 
ENST00000529927, ENST00000415352, 
ENST00000526169, 
Fusion gene scores* DoF score9 X 7 X 6=37835 X 6 X 14=2940
# samples 937
** MAII scorelog2(9/378*10)=-2.0703893278914
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: CPNE1 [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
HgeneCPNE1

GO:0043392

negative regulation of DNA binding

18212740

HgeneCPNE1

GO:0045666

positive regulation of neuron differentiation

23263657

HgeneCPNE1

GO:0051897

positive regulation of protein kinase B signaling

23263657

HgeneCPNE1

GO:1990138

neuron projection extension

23263657


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
TCGARVCOADTCGA-A6-6651-01ACPNE1chr20

34213968

-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-intronENST00000352393ENST00000322776CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
intron-intronENST00000352393ENST00000532303CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
intron-intronENST00000352393ENST00000529927CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
intron-intronENST00000352393ENST00000415352CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
intron-intronENST00000352393ENST00000526169CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
5CDS-intronENST00000317677ENST00000322776CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
5CDS-intronENST00000317677ENST00000532303CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
5CDS-intronENST00000317677ENST00000529927CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
5CDS-intronENST00000317677ENST00000415352CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
5CDS-intronENST00000317677ENST00000526169CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
5CDS-intronENST00000397445ENST00000322776CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
5CDS-intronENST00000397445ENST00000532303CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
5CDS-intronENST00000397445ENST00000529927CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
5CDS-intronENST00000397445ENST00000415352CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
5CDS-intronENST00000397445ENST00000526169CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
5CDS-intronENST00000317619ENST00000322776CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
5CDS-intronENST00000317619ENST00000532303CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
5CDS-intronENST00000317619ENST00000529927CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
5CDS-intronENST00000317619ENST00000415352CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
5CDS-intronENST00000317619ENST00000526169CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
5CDS-intronENST00000397443ENST00000322776CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
5CDS-intronENST00000397443ENST00000532303CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
5CDS-intronENST00000397443ENST00000529927CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
5CDS-intronENST00000397443ENST00000415352CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
5CDS-intronENST00000397443ENST00000526169CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
5CDS-intronENST00000397446ENST00000322776CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
5CDS-intronENST00000397446ENST00000532303CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
5CDS-intronENST00000397446ENST00000529927CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
5CDS-intronENST00000397446ENST00000415352CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
5CDS-intronENST00000397446ENST00000526169CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
intron-intronENST00000397442ENST00000322776CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
intron-intronENST00000397442ENST00000532303CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
intron-intronENST00000397442ENST00000529927CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
intron-intronENST00000397442ENST00000415352CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
intron-intronENST00000397442ENST00000526169CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
intron-intronENST00000475146ENST00000322776CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
intron-intronENST00000475146ENST00000532303CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
intron-intronENST00000475146ENST00000529927CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
intron-intronENST00000475146ENST00000415352CPNE1chr20

34213968

-NDUFV1chr11

67375697

+
intron-intronENST00000475146ENST00000526169CPNE1chr20

34213968

-NDUFV1chr11

67375697

+

Top

FusionProtFeatures for CPNE1_NDUFV1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CPNE1

Q99829

NDUFV1

P49821

Calcium-dependent phospholipid-binding protein thatplays a role in calcium-mediated intracellular processes(PubMed:14674885). Involved in the TNF-alpha receptor signalingpathway in a calcium-dependent manner (PubMed:14674885). Exhibitscalcium-dependent phospholipid binding properties (PubMed:9430674,PubMed:19539605). Plays a role in neuronal progenitor celldifferentiation; induces neurite outgrowth via a AKT-dependentsignaling cascade and calcium-independent manner (PubMed:23263657,PubMed:25450385). May recruit target proteins to the cell membranein a calcium-dependent manner (PubMed:12522145). May function inmembrane trafficking (PubMed:9430674). Involved in TNF-alpha-induced NF-kappa-B transcriptional repression by inducingendoprotease processing of the transcription factor NF-kappa-Bp65/RELA subunit (PubMed:18212740). Also induces endoproteaseprocessing of NF-kappa-B p50/NFKB1, p52/NFKB2, RELB and REL(PubMed:18212740). {ECO:0000269|PubMed:12522145,ECO:0000269|PubMed:14674885, ECO:0000269|PubMed:18212740,ECO:0000269|PubMed:19539605, ECO:0000269|PubMed:23263657,ECO:0000269|PubMed:25450385, ECO:0000269|PubMed:9430674}. 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


Top

FusionGeneSequence for CPNE1_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).

Top

FusionGenePPI for CPNE1_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
CPNE1UIMC1, HNRNPH1, ARRB2, TIMM13, ST13, TTLL12, PYGB, LIG4, FN1, BAG3, STK3, BUB3, KLK5, CDA, SDHA, NTRK1, TRIM25NDUFV1EWSR1, 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


Top

RelatedDrugs for CPNE1_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
HgeneCPNE1Q99829DB00277TheophyllineCopine-1 {ECO:0000305}small moleculeapproved

Top

RelatedDiseases for CPNE1_NDUFV1


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