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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: 1511

FusionGeneSummary for ALDOA_NDUFV1

check button Fusion gene summary
Fusion gene informationFusion gene name: ALDOA_NDUFV1
Fusion gene ID: 1511
HgeneTgene
Gene symbol

ALDOA

NDUFV1

Gene ID

226

4723

Gene namealdolase, fructose-bisphosphate ANADH:ubiquinone oxidoreductase core subunit V1
SynonymsALDA|GSD12|HEL-S-87pCI-51K|CI51KD|UQOR1
Cytomap

16p11.2

11q13.2

Type of geneprotein-codingprotein-coding
Descriptionfructose-bisphosphate aldolase Aaldolase A, fructose-bisphosphateepididymis secretory sperm binding protein Li 87pfructose-1,6-bisphosphate triosephosphate-lyaselung cancer antigen NY-LU-1muscle-type aldolaseNADH 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

P04075

P49821

Ensembl transtripts involved in fusion geneENST00000338110, ENST00000395248, 
ENST00000575627, ENST00000566897, 
ENST00000569545, ENST00000563060, 
ENST00000412304, ENST00000564546, 
ENST00000564595, ENST00000569798, 
ENST00000395240, 		ENST00000322776, 
ENST00000532303, ENST00000529927, 
ENST00000415352, ENST00000526169, 
Fusion gene scores* DoF score17 X 7 X 10=119035 X 6 X 14=2940
# samples 2037
** MAII scorelog2(20/1190*10)=-2.57288966842058
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: ALDOA [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
HgeneALDOA

GO:0008360

regulation of cell shape

9244396

HgeneALDOA

GO:0030388

fructose 1,6-bisphosphate metabolic process

9244396|14766013


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
TCGARVBRCATCGA-A2-A0CK-01AALDOAchr16

30081734

+NDUFV1chr11

67375697

+
TCGARVPRADTCGA-KK-A8I6-01AALDOAchr16

30081734

+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-intronENST00000338110ENST00000322776ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
5CDS-intronENST00000338110ENST00000532303ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
5CDS-intronENST00000338110ENST00000529927ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
5CDS-intronENST00000338110ENST00000415352ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
5CDS-intronENST00000338110ENST00000526169ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
3UTR-intronENST00000395248ENST00000322776ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
3UTR-intronENST00000395248ENST00000532303ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
3UTR-intronENST00000395248ENST00000529927ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
3UTR-intronENST00000395248ENST00000415352ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
3UTR-intronENST00000395248ENST00000526169ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
intron-intronENST00000575627ENST00000322776ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
intron-intronENST00000575627ENST00000532303ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
intron-intronENST00000575627ENST00000529927ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
intron-intronENST00000575627ENST00000415352ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
intron-intronENST00000575627ENST00000526169ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
5CDS-intronENST00000566897ENST00000322776ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
5CDS-intronENST00000566897ENST00000532303ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
5CDS-intronENST00000566897ENST00000529927ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
5CDS-intronENST00000566897ENST00000415352ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
5CDS-intronENST00000566897ENST00000526169ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
intron-intronENST00000569545ENST00000322776ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
intron-intronENST00000569545ENST00000532303ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
intron-intronENST00000569545ENST00000529927ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
intron-intronENST00000569545ENST00000415352ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
intron-intronENST00000569545ENST00000526169ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
5CDS-intronENST00000563060ENST00000322776ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
5CDS-intronENST00000563060ENST00000532303ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
5CDS-intronENST00000563060ENST00000529927ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
5CDS-intronENST00000563060ENST00000415352ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
5CDS-intronENST00000563060ENST00000526169ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
5CDS-intronENST00000412304ENST00000322776ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
5CDS-intronENST00000412304ENST00000532303ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
5CDS-intronENST00000412304ENST00000529927ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
5CDS-intronENST00000412304ENST00000415352ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
5CDS-intronENST00000412304ENST00000526169ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
3UTR-intronENST00000564546ENST00000322776ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
3UTR-intronENST00000564546ENST00000532303ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
3UTR-intronENST00000564546ENST00000529927ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
3UTR-intronENST00000564546ENST00000415352ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
3UTR-intronENST00000564546ENST00000526169ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
5CDS-intronENST00000564595ENST00000322776ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
5CDS-intronENST00000564595ENST00000532303ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
5CDS-intronENST00000564595ENST00000529927ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
5CDS-intronENST00000564595ENST00000415352ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
5CDS-intronENST00000564595ENST00000526169ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
intron-intronENST00000569798ENST00000322776ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
intron-intronENST00000569798ENST00000532303ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
intron-intronENST00000569798ENST00000529927ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
intron-intronENST00000569798ENST00000415352ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
intron-intronENST00000569798ENST00000526169ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
intron-intronENST00000395240ENST00000322776ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
intron-intronENST00000395240ENST00000532303ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
intron-intronENST00000395240ENST00000529927ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
intron-intronENST00000395240ENST00000415352ALDOAchr16

30081734

+NDUFV1chr11

67375697

+
intron-intronENST00000395240ENST00000526169ALDOAchr16

30081734

+NDUFV1chr11

67375697

+

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FusionProtFeatures for ALDOA_NDUFV1


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

P04075

NDUFV1

P49821

Plays a key role in glycolysis and gluconeogenesis. Inaddition, may also function as scaffolding protein (Bysimilarity). {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 ALDOA_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 ALDOA_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
ALDOAXRN1, FANCA, ATP6V1E1, PLD2, USP15, OSBPL10, EGFR, TRIM63, PSMD4, H2AFX, CACNA1A, HDAC5, PCNA, PSMA3, MYC, ISG15, TERF1, CUL3, CUL4B, CUL2, CDK2, MYOC, AKT1, PGK1, ALDOC, HSPD1, LGALS1, LIG4, HSP90AA1, HSP90AB1, VCAM1, FN1, ATF2, IQCB1, MLH1, VCPKMT, ITGA4, RAD52, ALDOB, ALDOA, BCAT2, GALNT6, PIAS4, CS, TNPO3, ADRB2, HUWE1, FUS, IFNA4, SUZ12, HNRNPA1, ACAA2, ACTN4, ACO2, ADI1, ARHGDIA, ASS1, CFL1, COX4I1, ECHS1, FKBP2, GPD1L, GPX4, HSD17B10, IMPA2, ISYNA1, LMAN1, MAP2K7, MYH7B, PKM, SUMO2, TAGLN, TAGLN2, TKT, TRAP1, ATP5J, CKB, CKMT1B, CKMT1A, CKMT2, DUT, ENO1, FABP5, FH, FKBP7, GAPDH, GLO1, HSPE1, KCNAB2, LDHA, LTA4H, NDUFS4, PGAM2, PREP, SOD2, SUMO4, TALDO1, UMPS, NTRK1, HSPB2, SRPK2, AHSA1, CDK2AP1, NCSTN, NCAPH, VPS18, DRC1, MCM2, CDC73, CDH1, CARM1, DNM1L, SOAT1, SOD1, TRIM25, BRCA1NDUFV1EWSR1, 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 ALDOA_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
HgeneALDOAP04075DB01593ZincFructose-bisphosphate aldolase Asmall moleculeapproved|investigational
HgeneALDOAP04075DB11638ArtenimolFructose-bisphosphate aldolase Asmall moleculeapproved|investigational

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RelatedDiseases for ALDOA_NDUFV1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneALDOAC0272066Glycogen Storage Disease XII3CTD_human;ORPHANET;UNIPROT
HgeneALDOAC0027626Neoplasm Invasiveness1CTD_human
HgeneALDOAC0027627Neoplasm Metastasis1CTD_human
HgeneALDOAC0151744Myocardial Ischemia1CTD_human
HgeneALDOAC0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneALDOAC1458155Mammary Neoplasms1CTD_human
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