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: 27559

FusionGeneSummary for PLEC_NDUFV1

check button Fusion gene summary
Fusion gene informationFusion gene name: PLEC_NDUFV1
Fusion gene ID: 27559
HgeneTgene
Gene symbol

PLEC

NDUFV1

Gene ID

5339

4723

Gene nameplectinNADH:ubiquinone oxidoreductase core subunit V1
SynonymsEBS1|EBSMD|EBSND|EBSO|EBSOG|EBSPA|HD1|LGMD2Q|PCN|PLEC1|PLEC1b|PLTNCI-51K|CI51KD|UQOR1
Cytomap

8q24.3

11q13.2

Type of geneprotein-codingprotein-coding
Descriptionplectinhemidesmosomal protein 1plectin 1, intermediate filament binding protein 500kDaNADH 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

Q15149

P49821

Ensembl transtripts involved in fusion geneENST00000345136, ENST00000357649, 
ENST00000354589, ENST00000398774, 
ENST00000322810, ENST00000354958, 
ENST00000356346, ENST00000436759, 
ENST00000527096, 
ENST00000322776, 
ENST00000532303, ENST00000529927, 
ENST00000415352, ENST00000526169, 
Fusion gene scores* DoF score14 X 12 X 7=117635 X 6 X 14=2940
# samples 1437
** MAII scorelog2(14/1176*10)=-3.0703893278914
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: PLEC [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
HgenePLEC

GO:0031581

hemidesmosome assembly

12482924


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-AU-6004-01APLECchr8

144989321

-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
5CDS-intronENST00000345136ENST00000322776PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000345136ENST00000532303PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000345136ENST00000529927PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000345136ENST00000415352PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000345136ENST00000526169PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000357649ENST00000322776PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000357649ENST00000532303PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000357649ENST00000529927PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000357649ENST00000415352PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000357649ENST00000526169PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000354589ENST00000322776PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000354589ENST00000532303PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000354589ENST00000529927PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000354589ENST00000415352PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000354589ENST00000526169PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000398774ENST00000322776PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000398774ENST00000532303PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000398774ENST00000529927PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000398774ENST00000415352PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000398774ENST00000526169PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000322810ENST00000322776PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000322810ENST00000532303PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000322810ENST00000529927PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000322810ENST00000415352PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000322810ENST00000526169PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000354958ENST00000322776PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000354958ENST00000532303PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000354958ENST00000529927PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000354958ENST00000415352PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000354958ENST00000526169PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000356346ENST00000322776PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000356346ENST00000532303PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000356346ENST00000529927PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000356346ENST00000415352PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000356346ENST00000526169PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000436759ENST00000322776PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000436759ENST00000532303PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000436759ENST00000529927PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000436759ENST00000415352PLECchr8

144989321

-NDUFV1chr11

67375697

+
5CDS-intronENST00000436759ENST00000526169PLECchr8

144989321

-NDUFV1chr11

67375697

+
intron-intronENST00000527096ENST00000322776PLECchr8

144989321

-NDUFV1chr11

67375697

+
intron-intronENST00000527096ENST00000532303PLECchr8

144989321

-NDUFV1chr11

67375697

+
intron-intronENST00000527096ENST00000529927PLECchr8

144989321

-NDUFV1chr11

67375697

+
intron-intronENST00000527096ENST00000415352PLECchr8

144989321

-NDUFV1chr11

67375697

+
intron-intronENST00000527096ENST00000526169PLECchr8

144989321

-NDUFV1chr11

67375697

+

Top

FusionProtFeatures for PLEC_NDUFV1


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

Q15149

NDUFV1

P49821

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 PLEC_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 PLEC_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
PLECGRB2, VIM, MAP2, SPTA1, SPTAN1, USP20, PAN2, KCTD13, PLEKHA5, SRRM2, ETS1, TJP1, SIRT7, SP1, ISG15, CUL3, CDK2, LRRK2, ITGB4, JUP, NOMO1, MTDH, TRA2A, HNRNPL, GNAI2, SLTM, UQCRC1, ESR1, TSGA10, FMNL1, VCP, VCAM1, FN1, NOS2, SMAD9, ITGA4, PHB, BAG3, GBF1, NCAPH, CDK9, CCAR2, NCAPG, RABEP1, SMC2, SMC4, RAPGEF2, CUL7, OBSL1, CCDC8, EZH2, SUZ12, EED, BMI1, SOCS6, CCDC68, DDX19B, TFDP3, GFOD1, WHSC1, C17orf85, DDX17, NUP50, QARS, SFN, PTEN, BUB1, CAPZA2, FLNA, MYH9, PPP1CB, NIPSNAP1, IQGAP1, PDLIM7, SYNPO, MAPRE1, PHF8, LIMA1, ANLN, MYO19, MYO18A, GAN, SKI, MCM2, SNW1, CDC5L, ATOH1, CDH1, C6orf141, DFNA5, NEFM, RAPGEF5, MLF1, TKT, UBC, AAK1, PPIP5K2, SEC24B, CCDC88A, EYA4, LUZP1, UBE2D2, NUP88, URGCP, DVL3, QSER1, ARFGAP3, AHNAK, WNK1, CYLD, DLST, PDHA1, CCND2, HEY1, BRCA1, TESNDUFV1EWSR1, 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 PLEC_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

Top

RelatedDiseases for PLEC_NDUFV1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePLECC3150989MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q2CTD_human;ORPHANET;UNIPROT
HgenePLECC0432317Epidermolysis bullosa simplex, Ogna type1CTD_human;ORPHANET;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