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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: 23887

FusionGeneSummary for NDUFS4_GZMA

check button Fusion gene summary
Fusion gene informationFusion gene name: NDUFS4_GZMA
Fusion gene ID: 23887
HgeneTgene
Gene symbol

NDUFS4

GZMA

Gene ID

4724

3001

Gene nameNADH:ubiquinone oxidoreductase subunit S4granzyme A
SynonymsAQDQ|CI-18|CI-18 kDa|CI-AQDQCTLA3|HFSP
Cytomap

5q11.2

5q11.2

Type of geneprotein-codingprotein-coding
DescriptionNADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrialNADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)NADH-ubiquinone oxidoreductase 18 kDa subunitcomplex I 18kDa subunitcomplex I-AQDQmitochondrial respigranzyme ACTL tryptaseCytotoxic T-lymphocyte-associated serine esterase-3Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)HFHanukah factor serine protease)cytotoxic T-lymphocyte proteinase 1fragmentin-
Modification date2018052320180523
UniProtAcc

O43181

P12544

Ensembl transtripts involved in fusion geneENST00000296684, ENST00000274306, 
Fusion gene scores* DoF score7 X 4 X 7=1961 X 1 X 1=1
# samples 71
** MAII scorelog2(7/196*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: NDUFS4 [Title/Abstract] AND GZMA [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
TgeneGZMA

GO:0032078

negative regulation of endodeoxyribonuclease activity

12524539

TgeneGZMA

GO:0043065

positive regulation of apoptotic process

12524539

TgeneGZMA

GO:0043392

negative regulation of DNA binding

12524539

TgeneGZMA

GO:0051354

negative regulation of oxidoreductase activity

12524539

TgeneGZMA

GO:0051603

proteolysis involved in cellular protein catabolic process

12524539


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
TCGARVCESCTCGA-VS-A8EI-01ANDUFS4chr5

52954454

+GZMAchr5

54401302

+
* 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
In-frameENST00000296684ENST00000274306NDUFS4chr5

52954454

+GZMAchr5

54401302

+

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FusionProtFeatures for NDUFS4_GZMA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NDUFS4

O43181

GZMA

P12544

Accessory subunit of the mitochondrial membranerespiratory chain NADH dehydrogenase (Complex I), that is believednot to be involved in catalysis. Complex I functions in thetransfer of electrons from NADH to the respiratory chain. Theimmediate electron acceptor for the enzyme is believed to beubiquinone. {ECO:0000269|PubMed:12611891,ECO:0000269|PubMed:9463323}. Abundant protease in the cytosolic granules of cytotoxicT-cells and NK-cells which activates caspase-independent celldeath with morphological features of apoptosis when delivered intothe target cell through the immunological synapse. It cleavesafter Lys or Arg. Cleaves APEX1 after 'Lys-31' and destroys itsoxidative repair activity. Cleaves the nucleosome assembly proteinSET after 'Lys-189', which disrupts its nucleosome assemblyactivity and allows the SET complex to translocate into thenucleus to nick and degrade the DNA. {ECO:0000269|PubMed:11555662,ECO:0000269|PubMed:12524539, ECO:0000269|PubMed:12628186,ECO:0000269|PubMed:16818237}.

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
TgeneGZMAchr5:52954454chr5:54401302ENST00000274306+0529_25923263DomainPeptidase S1

- 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 NDUFS4_GZMA


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.
>In-frame_NDUFS4_ENST00000296684_chr5_52954454_+_GZMA_ENST00000274306_chr5_54401302_+_381aa
MAAVSMSVVLRQTLWRRRAVAVAALSVSRVPTRSLRTSTWRLAQDQTQDTQLITVDEKLDITTLTGVPEEHIKTRKVRIFVPARNNMQSG
VNNTKKWKMEFDTRERWENPLMGWASTADPLSNMVLTFSTKEDAVSFAEKNDVCEKIIGGNEVTPHSRPYMVLLSLDRKTICAGALIAKD
WVLTAAHCNLNKRSQVILGAHSITREEPTKQIMLVKKEFPTPCTDPATREGDLKLLQLMEKAKINKTVTILHLPKKGDDVKPGTMCQVAG
WGRTHNSASWSDTLREVNITIIDRKVCNDRNHTNFNPVIGMNMVCAGSLRGGRDSCNGDSGSPLLCEGVFRGVTSFGLENKCGDPRGPGV


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_NDUFS4_ENST00000296684_chr5_52954454_+_GZMA_ENST00000274306_chr5_54401302_+_1143nt
ATGGCGGCGGTGTCAATGTCAGTGGTACTGAGGCAGACGTTGTGGCGGAGAAGGGCAGTGGCTGTAGCTGCCCTTTCCGTTTCCAGGGTT
CCGACCAGGTCGTTGAGGACTTCCACATGGAGATTGGCACAGGACCAGACTCAAGACACACAACTCATAACAGTTGATGAAAAATTGGAT
ATCACTACTTTAACTGGAGTTCCAGAAGAGCATATAAAAACTAGAAAAGTCAGGATCTTTGTTCCTGCTCGCAATAACATGCAGTCTGGA
GTAAACAACACAAAGAAATGGAAGATGGAGTTTGATACCAGAGAGCGATGGGAAAATCCTTTGATGGGTTGGGCATCAACGGCTGATCCC
TTATCCAACATGGTTCTAACCTTCAGTACTAAAGAAGATGCAGTTTCCTTTGCAGAAAAAAATGATGTCTGTGAAAAAATTATTGGAGGA
AATGAAGTAACTCCTCATTCAAGACCCTACATGGTCCTACTTAGTCTTGACAGAAAAACCATCTGTGCTGGGGCTTTGATTGCAAAAGAC
TGGGTGTTGACTGCAGCTCACTGTAACTTGAACAAAAGGTCCCAGGTCATTCTTGGGGCTCACTCAATAACCAGGGAAGAGCCAACAAAA
CAGATAATGCTTGTTAAGAAAGAGTTTCCCTATCCATGCTATGACCCAGCCACACGCGAAGGTGACCTTAAACTTTTACAGCTGATGGAA
AAAGCAAAAATTAACAAATATGTGACTATCCTTCATCTACCTAAAAAGGGGGACGATGTGAAACCAGGAACCATGTGCCAAGTTGCAGGG
TGGGGCAGGACTCACAATAGTGCATCTTGGTCCGATACTCTGAGAGAAGTCAATATCACCATCATAGACAGAAAAGTCTGCAATGATCGA
AATCACTATAATTTTAACCCTGTGATTGGAATGAATATGGTTTGTGCTGGAAGCCTCCGAGGTGGAAGAGACTCGTGCAATGGAGATTCT
GGAAGCCCTTTGTTGTGCGAGGGTGTTTTCCGAGGGGTCACTTCCTTTGGCCTTGAAAATAAATGCGGAGACCCTCGTGGGCCTGGTGTC


* Fusion transcript sequences (Full-length transcript).
>In-frame_NDUFS4_ENST00000296684_chr5_52954454_+_GZMA_ENST00000274306_chr5_54401302_+_1241nt
TTTCATCCTGGCGTTTGCCTGCAGCAAGATGGCGGCGGTGTCAATGTCAGTGGTACTGAGGCAGACGTTGTGGCGGAGAAGGGCAGTGGC
TGTAGCTGCCCTTTCCGTTTCCAGGGTTCCGACCAGGTCGTTGAGGACTTCCACATGGAGATTGGCACAGGACCAGACTCAAGACACACA
ACTCATAACAGTTGATGAAAAATTGGATATCACTACTTTAACTGGAGTTCCAGAAGAGCATATAAAAACTAGAAAAGTCAGGATCTTTGT
TCCTGCTCGCAATAACATGCAGTCTGGAGTAAACAACACAAAGAAATGGAAGATGGAGTTTGATACCAGAGAGCGATGGGAAAATCCTTT
GATGGGTTGGGCATCAACGGCTGATCCCTTATCCAACATGGTTCTAACCTTCAGTACTAAAGAAGATGCAGTTTCCTTTGCAGAAAAAAA
TGATGTCTGTGAAAAAATTATTGGAGGAAATGAAGTAACTCCTCATTCAAGACCCTACATGGTCCTACTTAGTCTTGACAGAAAAACCAT
CTGTGCTGGGGCTTTGATTGCAAAAGACTGGGTGTTGACTGCAGCTCACTGTAACTTGAACAAAAGGTCCCAGGTCATTCTTGGGGCTCA
CTCAATAACCAGGGAAGAGCCAACAAAACAGATAATGCTTGTTAAGAAAGAGTTTCCCTATCCATGCTATGACCCAGCCACACGCGAAGG
TGACCTTAAACTTTTACAGCTGATGGAAAAAGCAAAAATTAACAAATATGTGACTATCCTTCATCTACCTAAAAAGGGGGACGATGTGAA
ACCAGGAACCATGTGCCAAGTTGCAGGGTGGGGCAGGACTCACAATAGTGCATCTTGGTCCGATACTCTGAGAGAAGTCAATATCACCAT
CATAGACAGAAAAGTCTGCAATGATCGAAATCACTATAATTTTAACCCTGTGATTGGAATGAATATGGTTTGTGCTGGAAGCCTCCGAGG
TGGAAGAGACTCGTGCAATGGAGATTCTGGAAGCCCTTTGTTGTGCGAGGGTGTTTTCCGAGGGGTCACTTCCTTTGGCCTTGAAAATAA
ATGCGGAGACCCTCGTGGGCCTGGTGTCTATATTCTTCTCTCAAAGAAACACCTCAACTGGATAATTATGACTATCAAGGGAGCAGTTTA


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FusionGenePPI for NDUFS4_GZMA


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
NDUFS4APP, NDUFA12, NDUFS6, NDUFB5, NDUFS7, CYC1, UQCRB, ATP5O, MRPL15, M6PR, COX15, DLAT, NDUFAF3, RPS2, NUP188, PRPH, ABCD3, MGST3, CACNA2D1, MARC1, TOMM20, UBE2G2, PARK2, NDUFS3, DNAJC30, PRRT2, NDUFA8, ATP5C1, ALDOA, ALDOC, ATAD3A, ATP1A1, ATP2A2, ATP5A1, ATP5F1, ATP6V0D1, COX4I1, FUBP1, FUBP3, NDUFA2, NDUFS1, OGDH, RPL23, RPS14, SDHB, SLC25A5, UQCRC2, UQCRH, VDAC3, NDUFV1, RPL14, VDAC1, VDAC2, NDUFA9, NDUFA13, NDUFV3, NDUFV2, COX7A2L, NDUFB8, NDUFS2, ND5, NDUFA11, NDUFB10, ND4, NDUFB4, NDUFA7, NDUFS8, ND1, NDUFS5, VAPA, GOLT1B, NDUFA4, COX6B1, NDUFB11, YIPF3, VAPB, GDPD5, FUT1, IL1R2, GALNT6GZMASET, HMGB2, NDUFS3, LMNA, HIST1H1A, HIST2H2BE, GZMA, ACTG1, HNRNPK, HDC, GOLGA2, XRCC6, XRCC5, APEX1, HSPA4, HSP90AA1


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 NDUFS4_GZMA


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 NDUFS4_GZMA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNDUFS4C0023264Leigh Disease1CTD_human;ORPHANET
TgeneGZMAC0023893Liver Cirrhosis, Experimental1CTD_human