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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: 6250

FusionGeneSummary for CD74_NDUFV1

check button Fusion gene summary
Fusion gene informationFusion gene name: CD74_NDUFV1
Fusion gene ID: 6250
HgeneTgene
Gene symbol

CD74

NDUFV1

Gene ID

972

4723

Gene nameCD74 moleculeNADH:ubiquinone oxidoreductase core subunit V1
SynonymsDHLAG|HLADG|II|Ia-GAMMACI-51K|CI51KD|UQOR1
Cytomap

5q33.1

11q13.2

Type of geneprotein-codingprotein-coding
DescriptionHLA class II histocompatibility antigen gamma chainCD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)CD74 molecule, major histocompatibility complex, class II invariant chainHLA-DR antigens-associated NADH 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

P04233

P49821

Ensembl transtripts involved in fusion geneENST00000377795, ENST00000353334, 
ENST00000524315, ENST00000009530, 
ENST00000322776, ENST00000532303, 
ENST00000529927, ENST00000415352, 
ENST00000526169, 
Fusion gene scores* DoF score33 X 31 X 10=1023035 X 6 X 14=2940
# samples 4837
** MAII scorelog2(48/10230*10)=-4.41362792902417
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: CD74 [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
HgeneCD74

GO:0001516

prostaglandin biosynthetic process

12782713

HgeneCD74

GO:0001934

positive regulation of protein phosphorylation

24942581

HgeneCD74

GO:0002792

negative regulation of peptide secretion

19849849

HgeneCD74

GO:0007165

signal transduction

12782713

HgeneCD74

GO:0008283

cell proliferation

12782713

HgeneCD74

GO:0033674

positive regulation of kinase activity

24942581

HgeneCD74

GO:0043066

negative regulation of apoptotic process

12782713

HgeneCD74

GO:0043123

positive regulation of I-kappaB kinase/NF-kappaB signaling

24942581

HgeneCD74

GO:0043410

positive regulation of MAPK cascade

24942581

HgeneCD74

GO:0043518

negative regulation of DNA damage response, signal transduction by p53 class mediator

17045821

HgeneCD74

GO:0045657

positive regulation of monocyte differentiation

24942581

HgeneCD74

GO:0045893

positive regulation of transcription, DNA-templated

24942581

HgeneCD74

GO:0046598

positive regulation of viral entry into host cell

24942581

HgeneCD74

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

17045821

HgeneCD74

GO:0051290

protein heterotetramerization

24942581

HgeneCD74

GO:0070374

positive regulation of ERK1 and ERK2 cascade

17045821|24942581


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
TCGARVUCSTCGA-N9-A4Q7-01ACD74chr5

149781200

-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-intronENST00000377795ENST00000322776CD74chr5

149781200

-NDUFV1chr11

67375697

+
5CDS-intronENST00000377795ENST00000532303CD74chr5

149781200

-NDUFV1chr11

67375697

+
5CDS-intronENST00000377795ENST00000529927CD74chr5

149781200

-NDUFV1chr11

67375697

+
5CDS-intronENST00000377795ENST00000415352CD74chr5

149781200

-NDUFV1chr11

67375697

+
5CDS-intronENST00000377795ENST00000526169CD74chr5

149781200

-NDUFV1chr11

67375697

+
intron-intronENST00000353334ENST00000322776CD74chr5

149781200

-NDUFV1chr11

67375697

+
intron-intronENST00000353334ENST00000532303CD74chr5

149781200

-NDUFV1chr11

67375697

+
intron-intronENST00000353334ENST00000529927CD74chr5

149781200

-NDUFV1chr11

67375697

+
intron-intronENST00000353334ENST00000415352CD74chr5

149781200

-NDUFV1chr11

67375697

+
intron-intronENST00000353334ENST00000526169CD74chr5

149781200

-NDUFV1chr11

67375697

+
intron-intronENST00000524315ENST00000322776CD74chr5

149781200

-NDUFV1chr11

67375697

+
intron-intronENST00000524315ENST00000532303CD74chr5

149781200

-NDUFV1chr11

67375697

+
intron-intronENST00000524315ENST00000529927CD74chr5

149781200

-NDUFV1chr11

67375697

+
intron-intronENST00000524315ENST00000415352CD74chr5

149781200

-NDUFV1chr11

67375697

+
intron-intronENST00000524315ENST00000526169CD74chr5

149781200

-NDUFV1chr11

67375697

+
intron-intronENST00000009530ENST00000322776CD74chr5

149781200

-NDUFV1chr11

67375697

+
intron-intronENST00000009530ENST00000532303CD74chr5

149781200

-NDUFV1chr11

67375697

+
intron-intronENST00000009530ENST00000529927CD74chr5

149781200

-NDUFV1chr11

67375697

+
intron-intronENST00000009530ENST00000415352CD74chr5

149781200

-NDUFV1chr11

67375697

+
intron-intronENST00000009530ENST00000526169CD74chr5

149781200

-NDUFV1chr11

67375697

+

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FusionProtFeatures for CD74_NDUFV1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CD74

P04233

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


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FusionGeneSequence for CD74_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 CD74_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
CD74MIF, CD74, APP, HADHA, LAMTOR5, MAP3K1, TM4SF20, COPG1, COPG2, HLA-DPB1, HLA-DQA1, CD44NDUFV1EWSR1, 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 CD74_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 CD74_NDUFV1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCD74C0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneCD74C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCD74C0162557Liver Failure, Acute1CTD_human
HgeneCD74C1458155Mammary 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