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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: 22234

FusionGeneSummary for MMS19_NDUFV1

check button Fusion gene summary
Fusion gene informationFusion gene name: MMS19_NDUFV1
Fusion gene ID: 22234
HgeneTgene
Gene symbol

MMS19

NDUFV1

Gene ID

64210

4723

Gene nameMMS19 homolog, cytosolic iron-sulfur assembly componentNADH:ubiquinone oxidoreductase core subunit V1
SynonymsCIAO4|MET18|MMS19L|hMMS19CI-51K|CI51KD|UQOR1
Cytomap

10q24.1

11q13.2

Type of geneprotein-codingprotein-coding
DescriptionMMS19 nucleotide excision repair protein homologMET18 homologMMS19 cytosolic iron-sulfur assembly componentMMS19 nucleotide excision repair homologMMS19-like (MET18 homolog, S. cerevisiae)MMS19-like proteinhomolog of yeast MMS19NADH 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

Q96T76

P49821

Ensembl transtripts involved in fusion geneENST00000438925, ENST00000370782, 
ENST00000327238, ENST00000327277, 
ENST00000355839, ENST00000483626, 
ENST00000322776, ENST00000532303, 
ENST00000529927, ENST00000415352, 
ENST00000526169, 
Fusion gene scores* DoF score4 X 3 X 4=4835 X 6 X 14=2940
# samples 437
** MAII scorelog2(4/48*10)=-0.263034405833794
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: MMS19 [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
HgeneMMS19

GO:0097428

protein maturation by iron-sulfur cluster transfer

29225034

HgeneMMS19

GO:1905168

positive regulation of double-strand break repair via homologous recombination

29225034


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
TCGARVACCTCGA-OR-A5K5-01AMMS19chr10

99218083

-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-intronENST00000438925ENST00000322776MMS19chr10

99218083

-NDUFV1chr11

67375697

+
5CDS-intronENST00000438925ENST00000532303MMS19chr10

99218083

-NDUFV1chr11

67375697

+
5CDS-intronENST00000438925ENST00000529927MMS19chr10

99218083

-NDUFV1chr11

67375697

+
5CDS-intronENST00000438925ENST00000415352MMS19chr10

99218083

-NDUFV1chr11

67375697

+
5CDS-intronENST00000438925ENST00000526169MMS19chr10

99218083

-NDUFV1chr11

67375697

+
5CDS-intronENST00000370782ENST00000322776MMS19chr10

99218083

-NDUFV1chr11

67375697

+
5CDS-intronENST00000370782ENST00000532303MMS19chr10

99218083

-NDUFV1chr11

67375697

+
5CDS-intronENST00000370782ENST00000529927MMS19chr10

99218083

-NDUFV1chr11

67375697

+
5CDS-intronENST00000370782ENST00000415352MMS19chr10

99218083

-NDUFV1chr11

67375697

+
5CDS-intronENST00000370782ENST00000526169MMS19chr10

99218083

-NDUFV1chr11

67375697

+
5CDS-intronENST00000327238ENST00000322776MMS19chr10

99218083

-NDUFV1chr11

67375697

+
5CDS-intronENST00000327238ENST00000532303MMS19chr10

99218083

-NDUFV1chr11

67375697

+
5CDS-intronENST00000327238ENST00000529927MMS19chr10

99218083

-NDUFV1chr11

67375697

+
5CDS-intronENST00000327238ENST00000415352MMS19chr10

99218083

-NDUFV1chr11

67375697

+
5CDS-intronENST00000327238ENST00000526169MMS19chr10

99218083

-NDUFV1chr11

67375697

+
5CDS-intronENST00000327277ENST00000322776MMS19chr10

99218083

-NDUFV1chr11

67375697

+
5CDS-intronENST00000327277ENST00000532303MMS19chr10

99218083

-NDUFV1chr11

67375697

+
5CDS-intronENST00000327277ENST00000529927MMS19chr10

99218083

-NDUFV1chr11

67375697

+
5CDS-intronENST00000327277ENST00000415352MMS19chr10

99218083

-NDUFV1chr11

67375697

+
5CDS-intronENST00000327277ENST00000526169MMS19chr10

99218083

-NDUFV1chr11

67375697

+
intron-intronENST00000355839ENST00000322776MMS19chr10

99218083

-NDUFV1chr11

67375697

+
intron-intronENST00000355839ENST00000532303MMS19chr10

99218083

-NDUFV1chr11

67375697

+
intron-intronENST00000355839ENST00000529927MMS19chr10

99218083

-NDUFV1chr11

67375697

+
intron-intronENST00000355839ENST00000415352MMS19chr10

99218083

-NDUFV1chr11

67375697

+
intron-intronENST00000355839ENST00000526169MMS19chr10

99218083

-NDUFV1chr11

67375697

+
intron-intronENST00000483626ENST00000322776MMS19chr10

99218083

-NDUFV1chr11

67375697

+
intron-intronENST00000483626ENST00000532303MMS19chr10

99218083

-NDUFV1chr11

67375697

+
intron-intronENST00000483626ENST00000529927MMS19chr10

99218083

-NDUFV1chr11

67375697

+
intron-intronENST00000483626ENST00000415352MMS19chr10

99218083

-NDUFV1chr11

67375697

+
intron-intronENST00000483626ENST00000526169MMS19chr10

99218083

-NDUFV1chr11

67375697

+

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FusionProtFeatures for MMS19_NDUFV1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MMS19

Q96T76

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 MMS19_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 MMS19_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
MMS19MLF2, ILK, PHB2, PHLDA3, GIPC1, PTP4A3, BRE, PMS1, PMS2, MYC, CUL3, GRK5, CIAO1, PHKA2, FAM96B, GTF2F1, ERCC2, GTF2H1, ERCC3, NOTCH1, NARFL, BRIP1, RTEL1, POLD1, NARF, DNA2, NTHL1, POLA1, POLE, PRIM2, PPAT, CDKAL1, ABCE1, ELP3, TYW1, ELP4, CNP, PRIM1, ELP5, CTU1, CTU2, IKBKAP, FMNL3, FMNL2, GLRX3, MAK16, NUP35, ORAOV1, MSL1, EYA2, ALDH3A2, ELP2, KIF4A, ARL1, GEMIN2, SHKBP1, DPH2, TFP1, USPL1, ZNF536, RANGAP1, SPC25, RFC5, GRK6, MRPL40, GEMIN6, EIF2S1, KPNA2, MBD3, ILVBL, TRIP13, DPH1, WNK1, TMEM43, SURF4, USP39, EIF3K, FMNL1, GEMIN8, SMCR8, PRPSAP1, RPN2, ARF1, ARF3, GNL2, WDR41, LARP4B, APOBEC3C, TOP3B, IDH3B, CDIPT, CSE1L, EIF2S2, SNRPB2, THOC6, PRPF6, DHCR7, DNAJB11, EIF3M, DUSP9, SLFN11, CDK17, ABCD3, KCTD3, MUTYH, DCP2, GTF2E2, ATP1A1, FANCI, HSD17B12, AP2B1, POLD2, SLC25A11, ERLIN2, PRPF3, SMARCD1, RBMXL3, GPANK1, IRAK1, HLA-A, HLA-B, HLA-C, ADD1, MLH1, CCNK, WTAP, POLA2, RANBP2, MAGED2, TRMT2A, ABCF1, RAF1, BAG5, SCAF4, FRYL, ALG1, QSOX2, C9orf72, SMC3, PIGS, AATF, MSL2, ZNF281, DDX52, RPN1, PWP2, PPP1R10, SLC3A2, EDEM1, ARHGEF2, XPO1, RBBP6, XPO5, HDAC6, MTUS1, NOP14, LTN1, WDR36, AP2A1, ZNF318, MON2, EIF5B, DICER1, DST, NCOA3, ESR1, ESR2, RARA, THRB, SOX2, EGFR, FBXL5, KPNA3, PDE3A, USP7, NDUFS2, RNF2, MPPED1, WBP1, NTRK1, XRCC3, NCSTN, FOXI2, FOXR1, FOXS1, MCM2, FANCA, MTNR1ANDUFV1EWSR1, 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 MMS19_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 MMS19_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