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Fusion gene ID: 24935 |
FusionGeneSummary for NSMAF_UQCRH |
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Fusion gene information | Fusion gene name: NSMAF_UQCRH | Fusion gene ID: 24935 | Hgene | Tgene | Gene symbol | NSMAF | UQCRH | Gene ID | 8439 | 7388 |
Gene name | neutral sphingomyelinase activation associated factor | ubiquinol-cytochrome c reductase hinge protein | |
Synonyms | FAN|GRAMD5 | QCR6|UQCR8 | |
Cytomap | 8q12.1 | 1p33 | |
Type of gene | protein-coding | protein-coding | |
Description | protein FANfactor associated with N-SMase activationfactor associated with neutral sphingomyelinase activationneutral sphingomyelinase (N-SMase) activation associated factor | cytochrome 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 date | 20180519 | 20180523 | |
UniProtAcc | Q92636 | P07919 | |
Ensembl transtripts involved in fusion gene | ENST00000038176, ENST00000427130, ENST00000519858, | ENST00000311672, ENST00000486951, | |
Fusion gene scores | * DoF score | 5 X 5 X 4=100 | 2 X 2 X 2=8 |
# samples | 5 | 2 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | AK304884 | NSMAF | chr8 | 59514057 | - | UQCRH | chr1 | 46769392 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-5UTR | ENST00000038176 | ENST00000311672 | NSMAF | chr8 | 59514057 | - | UQCRH | chr1 | 46769392 | + |
intron-3UTR | ENST00000038176 | ENST00000486951 | NSMAF | chr8 | 59514057 | - | UQCRH | chr1 | 46769392 | + |
intron-5UTR | ENST00000427130 | ENST00000311672 | NSMAF | chr8 | 59514057 | - | UQCRH | chr1 | 46769392 | + |
intron-3UTR | ENST00000427130 | ENST00000486951 | NSMAF | chr8 | 59514057 | - | UQCRH | chr1 | 46769392 | + |
intron-5UTR | ENST00000519858 | ENST00000311672 | NSMAF | chr8 | 59514057 | - | UQCRH | chr1 | 46769392 | + |
intron-3UTR | ENST00000519858 | ENST00000486951 | NSMAF | chr8 | 59514057 | - | UQCRH | chr1 | 46769392 | + |
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FusionProtFeatures for NSMAF_UQCRH |
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Hgene | Tgene |
NSMAF | UQCRH |
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. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for NSMAF_UQCRH |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for NSMAF_UQCRH |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for NSMAF_UQCRH |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |