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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: 23856

FusionGeneSummary for NDUFAF6_BCAS4

check button Fusion gene summary
Fusion gene informationFusion gene name: NDUFAF6_BCAS4
Fusion gene ID: 23856
HgeneTgene
Gene symbol

NDUFAF6

BCAS4

Gene ID

137682

55653

Gene nameNADH:ubiquinone oxidoreductase complex assembly factor 6breast carcinoma amplified sequence 4
SynonymsC8orf38CNOL
Cytomap

8q22.1

20q13.13

Type of geneprotein-codingprotein-coding
DescriptionNADH dehydrogenase (ubiquinone) complex I, assembly factor 6UPF0551 protein C8orf38, mitochondrialputative phytoene synthasebreast carcinoma-amplified sequence 4BCAS4/BCAS3 fusionbreast carcinoma amplified sequence 4/3 fusion protein
Modification date2018052320180523
UniProtAcc

Q330K2

Q8TDM0

Ensembl transtripts involved in fusion geneENST00000396113, ENST00000286687, 
ENST00000396111, ENST00000521840, 
ENST00000542894, ENST00000396124, 
ENST00000358791, ENST00000262591, 
ENST00000371608, ENST00000609336, 
ENST00000485049, 
Fusion gene scores* DoF score7 X 4 X 7=1966 X 3 X 6=108
# samples 76
** MAII scorelog2(7/196*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NDUFAF6 [Title/Abstract] AND BCAS4 [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
TCGALDOVTCGA-10-0937-01ANDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
* 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
5UTR-3CDSENST00000396113ENST00000358791NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
5UTR-3CDSENST00000396113ENST00000262591NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
5UTR-3CDSENST00000396113ENST00000371608NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
5UTR-3CDSENST00000396113ENST00000609336NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
5UTR-intronENST00000396113ENST00000485049NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
intron-3CDSENST00000286687ENST00000358791NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
intron-3CDSENST00000286687ENST00000262591NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
intron-3CDSENST00000286687ENST00000371608NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
intron-3CDSENST00000286687ENST00000609336NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
intron-intronENST00000286687ENST00000485049NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
5UTR-3CDSENST00000396111ENST00000358791NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
5UTR-3CDSENST00000396111ENST00000262591NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
5UTR-3CDSENST00000396111ENST00000371608NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
5UTR-3CDSENST00000396111ENST00000609336NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
5UTR-intronENST00000396111ENST00000485049NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
intron-3CDSENST00000521840ENST00000358791NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
intron-3CDSENST00000521840ENST00000262591NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
intron-3CDSENST00000521840ENST00000371608NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
intron-3CDSENST00000521840ENST00000609336NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
intron-intronENST00000521840ENST00000485049NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
intron-3CDSENST00000542894ENST00000358791NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
intron-3CDSENST00000542894ENST00000262591NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
intron-3CDSENST00000542894ENST00000371608NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
intron-3CDSENST00000542894ENST00000609336NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
intron-intronENST00000542894ENST00000485049NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
intron-3CDSENST00000396124ENST00000358791NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
intron-3CDSENST00000396124ENST00000262591NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
intron-3CDSENST00000396124ENST00000371608NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
intron-3CDSENST00000396124ENST00000609336NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+
intron-intronENST00000396124ENST00000485049NDUFAF6chr8

95970407

+BCAS4chr20

49493023

+

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FusionProtFeatures for NDUFAF6_BCAS4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NDUFAF6

Q330K2

BCAS4

Q8TDM0

Involved in the assembly of mitochondrialNADH:ubiquinone oxidoreductase complex (complex I) at earlystages. May play a role in the biogenesis of MT-ND1.{ECO:0000269|PubMed:18614015, ECO:0000269|PubMed:22019594}.

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 NDUFAF6_BCAS4


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 NDUFAF6_BCAS4


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
NDUFAF6GALNT6BCAS4DTNBP1, PKD2, BLOC1S6, BLOC1S2, BLOC1S5, BLOC1S1, LOH12CR1, ATG4A, SNAPIN, BLOC1S3, SRCIN1


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 NDUFAF6_BCAS4


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 NDUFAF6_BCAS4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNDUFAF6C1838979MITOCHONDRIAL COMPLEX I DEFICIENCY2UNIPROT