FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 23859

FusionGeneSummary for NDUFAF6_LRRCC1

check button Fusion gene summary
Fusion gene informationFusion gene name: NDUFAF6_LRRCC1
Fusion gene ID: 23859
HgeneTgene
Gene symbol

NDUFAF6

LRRCC1

Gene ID

137682

85444

Gene nameNADH:ubiquinone oxidoreductase complex assembly factor 6leucine rich repeat and coiled-coil centrosomal protein 1
SynonymsC8orf38CLERC|CLERK|SAP2|VFL1
Cytomap

8q22.1

8q21.2

Type of geneprotein-codingprotein-coding
DescriptionNADH dehydrogenase (ubiquinone) complex I, assembly factor 6UPF0551 protein C8orf38, mitochondrialputative phytoene synthaseleucine-rich repeat and coiled-coil domain-containing protein 1centrosomal leucine-rich repeat and coiled-coil domain-containing proteinsodium channel associated protein 2variable number of flagella 1 homolog
Modification date2018052320180523
UniProtAcc

Q330K2

Q9C099

Ensembl transtripts involved in fusion geneENST00000396113, ENST00000286687, 
ENST00000396111, ENST00000521840, 
ENST00000542894, ENST00000396124, 
ENST00000360375, ENST00000414626, 
Fusion gene scores* DoF score7 X 4 X 7=1964 X 4 X 4=64
# samples 74
** MAII scorelog2(7/196*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NDUFAF6 [Title/Abstract] AND LRRCC1 [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
TCGALDSKCMTCGA-D3-A1Q4-06ANDUFAF6chr8

95993201

+LRRCC1chr8

86042154

+
* 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-3CDSENST00000396113ENST00000360375NDUFAF6chr8

95993201

+LRRCC1chr8

86042154

+
5UTR-3CDSENST00000396113ENST00000414626NDUFAF6chr8

95993201

+LRRCC1chr8

86042154

+
intron-3CDSENST00000286687ENST00000360375NDUFAF6chr8

95993201

+LRRCC1chr8

86042154

+
intron-3CDSENST00000286687ENST00000414626NDUFAF6chr8

95993201

+LRRCC1chr8

86042154

+
5UTR-3CDSENST00000396111ENST00000360375NDUFAF6chr8

95993201

+LRRCC1chr8

86042154

+
5UTR-3CDSENST00000396111ENST00000414626NDUFAF6chr8

95993201

+LRRCC1chr8

86042154

+
3UTR-3CDSENST00000521840ENST00000360375NDUFAF6chr8

95993201

+LRRCC1chr8

86042154

+
3UTR-3CDSENST00000521840ENST00000414626NDUFAF6chr8

95993201

+LRRCC1chr8

86042154

+
Frame-shiftENST00000542894ENST00000360375NDUFAF6chr8

95993201

+LRRCC1chr8

86042154

+
Frame-shiftENST00000542894ENST00000414626NDUFAF6chr8

95993201

+LRRCC1chr8

86042154

+
intron-3CDSENST00000396124ENST00000360375NDUFAF6chr8

95993201

+LRRCC1chr8

86042154

+
intron-3CDSENST00000396124ENST00000414626NDUFAF6chr8

95993201

+LRRCC1chr8

86042154

+

Top

FusionProtFeatures for NDUFAF6_LRRCC1


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

Q330K2

LRRCC1

Q9C099

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}. Required for the organization of the mitotic spindle.Maintains the structural integrity of centrosomes during mitosis.{ECO:0000269|PubMed:18728398}.

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


Top

FusionGeneSequence for NDUFAF6_LRRCC1


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).

Top

FusionGenePPI for NDUFAF6_LRRCC1


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
NDUFAF6GALNT6LRRCC1PCM1, MYH7B, ACTN3, CEP131, ATP1A4, ATP2A3, POTEE, ATP2A1, PIBF1, SKA3, TUBA3C, KIF7, MIB1, STRIP1, STRN, FBXO28, MED4


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


Top

RelatedDrugs for NDUFAF6_LRRCC1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for NDUFAF6_LRRCC1


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