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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: 962

FusionGeneSummary for AEBP1_NDUFV1

check button Fusion gene summary
Fusion gene informationFusion gene name: AEBP1_NDUFV1
Fusion gene ID: 962
HgeneTgene
Gene symbol

AEBP1

NDUFV1

Gene ID

165

4723

Gene nameAE binding protein 1NADH:ubiquinone oxidoreductase core subunit V1
SynonymsACLPCI-51K|CI51KD|UQOR1
Cytomap

7p13

11q13.2

Type of geneprotein-codingprotein-coding
Descriptionadipocyte enhancer-binding protein 1aortic carboxypeptidase-like proteinNADH 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

Q8IUX7

P49821

Ensembl transtripts involved in fusion geneENST00000223357, ENST00000454218, 
ENST00000450684, 
ENST00000322776, 
ENST00000532303, ENST00000529927, 
ENST00000415352, ENST00000526169, 
Fusion gene scores* DoF score5 X 4 X 4=8035 X 6 X 14=2940
# samples 537
** MAII scorelog2(5/80*10)=-0.678071905112638
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: AEBP1 [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

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
TCGARVLUADTCGA-55-6982-01AAEBP1chr7

44154159

+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-intronENST00000223357ENST00000322776AEBP1chr7

44154159

+NDUFV1chr11

67375697

+
5CDS-intronENST00000223357ENST00000532303AEBP1chr7

44154159

+NDUFV1chr11

67375697

+
5CDS-intronENST00000223357ENST00000529927AEBP1chr7

44154159

+NDUFV1chr11

67375697

+
5CDS-intronENST00000223357ENST00000415352AEBP1chr7

44154159

+NDUFV1chr11

67375697

+
5CDS-intronENST00000223357ENST00000526169AEBP1chr7

44154159

+NDUFV1chr11

67375697

+
intron-intronENST00000454218ENST00000322776AEBP1chr7

44154159

+NDUFV1chr11

67375697

+
intron-intronENST00000454218ENST00000532303AEBP1chr7

44154159

+NDUFV1chr11

67375697

+
intron-intronENST00000454218ENST00000529927AEBP1chr7

44154159

+NDUFV1chr11

67375697

+
intron-intronENST00000454218ENST00000415352AEBP1chr7

44154159

+NDUFV1chr11

67375697

+
intron-intronENST00000454218ENST00000526169AEBP1chr7

44154159

+NDUFV1chr11

67375697

+
5CDS-intronENST00000450684ENST00000322776AEBP1chr7

44154159

+NDUFV1chr11

67375697

+
5CDS-intronENST00000450684ENST00000532303AEBP1chr7

44154159

+NDUFV1chr11

67375697

+
5CDS-intronENST00000450684ENST00000529927AEBP1chr7

44154159

+NDUFV1chr11

67375697

+
5CDS-intronENST00000450684ENST00000415352AEBP1chr7

44154159

+NDUFV1chr11

67375697

+
5CDS-intronENST00000450684ENST00000526169AEBP1chr7

44154159

+NDUFV1chr11

67375697

+

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FusionProtFeatures for AEBP1_NDUFV1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AEBP1

Q8IUX7

NDUFV1

P49821

May positively regulate MAP-kinase activity inadipocytes, leading to enhanced adipocyte proliferation andreduced adipocyte differentiation. May also positively regulateNF-kappa-B activity in macrophages by promoting thephosphorylation and subsequent degradation of I-kappa-B-alpha(NFKBIA), leading to enhanced macrophage inflammatoryresponsiveness. Can act as a transcriptional repressor.{ECO:0000250}. 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 AEBP1_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 AEBP1_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
AEBP1GRB2NDUFV1EWSR1, 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 AEBP1_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 AEBP1_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