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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: 24935

FusionGeneSummary for NSMAF_UQCRH

check button Fusion gene summary
Fusion gene informationFusion gene name: NSMAF_UQCRH
Fusion gene ID: 24935
HgeneTgene
Gene symbol

NSMAF

UQCRH

Gene ID

8439

7388

Gene nameneutral sphingomyelinase activation associated factorubiquinol-cytochrome c reductase hinge protein
SynonymsFAN|GRAMD5QCR6|UQCR8
Cytomap

8q12.1

1p33

Type of geneprotein-codingprotein-coding
Descriptionprotein FANfactor associated with N-SMase activationfactor associated with neutral sphingomyelinase activationneutral sphingomyelinase (N-SMase) activation associated factorcytochrome b-c1 complex subunit 6, mitochondrialcomplex III subunit 6cytochrome c1 non-heme 11 kDa proteinmitochondrial hinge proteinubiquinol-cytochrome c reductase complex 11 kDa proteinubiquinol-cytochrome c reductase, complex III subunit VIII
Modification date2018051920180523
UniProtAcc

Q92636

P07919

Ensembl transtripts involved in fusion geneENST00000038176, ENST00000427130, 
ENST00000519858, 
ENST00000311672, 
ENST00000486951, 
Fusion gene scores* DoF score5 X 5 X 4=1002 X 2 X 2=8
# samples 52
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: NSMAF [Title/Abstract] AND UQCRH [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
ChiTaRS3.1AK304884NSMAFchr8

59514057

-UQCRHchr1

46769392

+
* 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
intron-5UTRENST00000038176ENST00000311672NSMAFchr8

59514057

-UQCRHchr1

46769392

+
intron-3UTRENST00000038176ENST00000486951NSMAFchr8

59514057

-UQCRHchr1

46769392

+
intron-5UTRENST00000427130ENST00000311672NSMAFchr8

59514057

-UQCRHchr1

46769392

+
intron-3UTRENST00000427130ENST00000486951NSMAFchr8

59514057

-UQCRHchr1

46769392

+
intron-5UTRENST00000519858ENST00000311672NSMAFchr8

59514057

-UQCRHchr1

46769392

+
intron-3UTRENST00000519858ENST00000486951NSMAFchr8

59514057

-UQCRHchr1

46769392

+

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FusionProtFeatures for NSMAF_UQCRH


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

Q92636

UQCRH

P07919

Couples the p55 TNF-receptor (TNF-R55 / TNFR1) toneutral sphingomyelinase (N-SMASE). Specifically binds to the N-smase activation domain of TNF-R55. May regulate ceramideproduction by N-SMASE. This is a component of the ubiquinol-cytochrome creductase complex (complex III or cytochrome b-c1 complex), whichis part of the mitochondrial respiratory chain. This protein maymediate formation of the complex between cytochromes c and c1.

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 NSMAF_UQCRH


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 NSMAF_UQCRH


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


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 NSMAF_UQCRH


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 NSMAF_UQCRH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource