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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: 40893

FusionGeneSummary for UQCRH_SLC48A1

check button Fusion gene summary
Fusion gene informationFusion gene name: UQCRH_SLC48A1
Fusion gene ID: 40893
HgeneTgene
Gene symbol

UQCRH

SLC48A1

Gene ID

7388

55652

Gene nameubiquinol-cytochrome c reductase hinge proteinsolute carrier family 48 member 1
SynonymsQCR6|UQCR8HRG-1|HRG1|hHRG-1
Cytomap

1p33

12q13.11

Type of geneprotein-codingprotein-coding
Descriptioncytochrome 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 VIIIheme transporter HRG1heme-responsive gene 1 protein homologsolute carrier family 48 (heme transporter), member 1
Modification date2018052320180519
UniProtAcc

P07919

Q6P1K1

Ensembl transtripts involved in fusion geneENST00000311672, ENST00000486951, 
ENST00000547002, ENST00000442892, 
ENST00000442218, ENST00000476104, 
Fusion gene scores* DoF score5 X 5 X 3=755 X 5 X 2=50
# samples 55
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/50*10)=0
Context

PubMed: UQCRH [Title/Abstract] AND SLC48A1 [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
TgeneSLC48A1

GO:0015886

heme transport

18418376


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
TCGALDOVTCGA-13-1488-01AUQCRHchr1

46769492

+SLC48A1chr12

48172811

+
* 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-5UTRENST00000311672ENST00000547002UQCRHchr1

46769492

+SLC48A1chr12

48172811

+
5CDS-5UTRENST00000311672ENST00000442892UQCRHchr1

46769492

+SLC48A1chr12

48172811

+
5CDS-5UTRENST00000311672ENST00000442218UQCRHchr1

46769492

+SLC48A1chr12

48172811

+
5CDS-3UTRENST00000311672ENST00000476104UQCRHchr1

46769492

+SLC48A1chr12

48172811

+
3UTR-5UTRENST00000486951ENST00000547002UQCRHchr1

46769492

+SLC48A1chr12

48172811

+
3UTR-5UTRENST00000486951ENST00000442892UQCRHchr1

46769492

+SLC48A1chr12

48172811

+
3UTR-5UTRENST00000486951ENST00000442218UQCRHchr1

46769492

+SLC48A1chr12

48172811

+
3UTR-3UTRENST00000486951ENST00000476104UQCRHchr1

46769492

+SLC48A1chr12

48172811

+

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FusionProtFeatures for UQCRH_SLC48A1


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

P07919

SLC48A1

Q6P1K1

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. Heme transporter that regulates intracellular hemeavailability through the endosomal or lysosomal compartment.{ECO:0000269|PubMed:18418376}.

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 UQCRH_SLC48A1


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 UQCRH_SLC48A1


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
UQCRHSIRT3, ILF3, NENF, MPV17, EEF1A1, RPL4, EEF1B2, NPM1, FAM189B, RNF24, ARL8A, PEX19, UQCRB, NDUFS4, ATP6V0D1, SLC15A2, NDUFA12, OTUB1, COX7A2L, DOCK11, ACTR10, DCTN5, CYTB, CYC1, SLC39A4, DCTN6, UQCRQ, FAM131B, HDAC10, TUBB, ACTR1B, PROC, FUCA2, ERBB3, DCTN3, SERPINB1, UQCRC1, UQCRC2, DCTN2, DCTN4SLC48A1ELAVL1, APP, MEOX2, NME2, HSP90AA4P


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 UQCRH_SLC48A1


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 UQCRH_SLC48A1


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