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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:SDCCAG8-DCAF6 (FusionGDB2 ID:79357)

Fusion Gene Summary for SDCCAG8-DCAF6

check button Fusion gene summary
Fusion gene informationFusion gene name: SDCCAG8-DCAF6
Fusion gene ID: 79357
HgeneTgene
Gene symbol

SDCCAG8

DCAF6

Gene ID

10806

55827

Gene nameSHH signaling and ciliogenesis regulator SDCCAG8DDB1 and CUL4 associated factor 6
SynonymsBBS16|CCCAP|CCCAP SLSN7|HSPC085|NPHP10|NY-CO-8|SLSN7|hCCCAP1200006M05Rik|ARCAP|IQWD1|MSTP055|NRIP|PC326
Cytomap

1q43-q44

1q24.2

Type of geneprotein-codingprotein-coding
Descriptionserologically defined colon cancer antigen 8Bardet-Biedl syndrome 16antigen NY-CO-8centrosomal colon cancer autoantigen proteinnephrocystin 10DDB1- and CUL4-associated factor 6IQ motif and WD repeat-containing protein 1IQ motif and WD repeats 1androgen receptor complex-associated proteinnuclear receptor interaction protein
Modification date2020031320200313
UniProtAcc.

Q58WW2

Ensembl transtripts involved in fusion geneENST00000355875, ENST00000366541, 
ENST00000343783, ENST00000391846, 
ENST00000496361, 		ENST00000367843, 
ENST00000432587, ENST00000312263, 
ENST00000367840, ENST00000470919, 
Fusion gene scores* DoF score12 X 9 X 7=75610 X 9 X 8=720
# samples 1310
** MAII scorelog2(13/756*10)=-2.53987461119262
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/720*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SDCCAG8 [Title/Abstract] AND DCAF6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSDCCAG8(243542165)-DCAF6(168034828), # samples:2
Anticipated loss of major functional domain due to fusion event.SDCCAG8-DCAF6 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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 buttonFusion gene breakpoints across SDCCAG8 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across DCAF6 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LIHCTCGA-DD-A4NE-01ASDCCAG8chr1

243542165

+DCAF6chr1

168034828

+
ChimerDB4LIHCTCGA-DD-A4NE-01ASDCCAG8chr1

243542165

-DCAF6chr1

168034828

+


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Fusion Gene ORF analysis for SDCCAG8-DCAF6

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
Frame-shiftENST00000355875ENST00000367843SDCCAG8chr1

243542165

+DCAF6chr1

168034828

+
Frame-shiftENST00000355875ENST00000432587SDCCAG8chr1

243542165

+DCAF6chr1

168034828

+
Frame-shiftENST00000355875ENST00000312263SDCCAG8chr1

243542165

+DCAF6chr1

168034828

+
Frame-shiftENST00000355875ENST00000367840SDCCAG8chr1

243542165

+DCAF6chr1

168034828

+
5CDS-intronENST00000355875ENST00000470919SDCCAG8chr1

243542165

+DCAF6chr1

168034828

+
Frame-shiftENST00000366541ENST00000367843SDCCAG8chr1

243542165

+DCAF6chr1

168034828

+
Frame-shiftENST00000366541ENST00000432587SDCCAG8chr1

243542165

+DCAF6chr1

168034828

+
Frame-shiftENST00000366541ENST00000312263SDCCAG8chr1

243542165

+DCAF6chr1

168034828

+
Frame-shiftENST00000366541ENST00000367840SDCCAG8chr1

243542165

+DCAF6chr1

168034828

+
5CDS-intronENST00000366541ENST00000470919SDCCAG8chr1

243542165

+DCAF6chr1

168034828

+
Frame-shiftENST00000343783ENST00000367843SDCCAG8chr1

243542165

+DCAF6chr1

168034828

+
Frame-shiftENST00000343783ENST00000432587SDCCAG8chr1

243542165

+DCAF6chr1

168034828

+
Frame-shiftENST00000343783ENST00000312263SDCCAG8chr1

243542165

+DCAF6chr1

168034828

+
Frame-shiftENST00000343783ENST00000367840SDCCAG8chr1

243542165

+DCAF6chr1

168034828

+
5CDS-intronENST00000343783ENST00000470919SDCCAG8chr1

243542165

+DCAF6chr1

168034828

+
intron-3CDSENST00000391846ENST00000367843SDCCAG8chr1

243542165

+DCAF6chr1

168034828

+
intron-3CDSENST00000391846ENST00000432587SDCCAG8chr1

243542165

+DCAF6chr1

168034828

+
intron-3CDSENST00000391846ENST00000312263SDCCAG8chr1

243542165

+DCAF6chr1

168034828

+
intron-3CDSENST00000391846ENST00000367840SDCCAG8chr1

243542165

+DCAF6chr1

168034828

+
intron-intronENST00000391846ENST00000470919SDCCAG8chr1

243542165

+DCAF6chr1

168034828

+
intron-3CDSENST00000496361ENST00000367843SDCCAG8chr1

243542165

+DCAF6chr1

168034828

+
intron-3CDSENST00000496361ENST00000432587SDCCAG8chr1

243542165

+DCAF6chr1

168034828

+
intron-3CDSENST00000496361ENST00000312263SDCCAG8chr1

243542165

+DCAF6chr1

168034828

+
intron-3CDSENST00000496361ENST00000367840SDCCAG8chr1

243542165

+DCAF6chr1

168034828

+
intron-intronENST00000496361ENST00000470919SDCCAG8chr1

243542165

+DCAF6chr1

168034828

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for SDCCAG8-DCAF6


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
SDCCAG8chr1243542165+DCAF6chr1168034827+2.64E-060.9999974
SDCCAG8chr1243542165+DCAF6chr1168034827+2.64E-060.9999974

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for SDCCAG8-DCAF6


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.DCAF6

Q58WW2

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Ligand-dependent coactivator of nuclear receptors. Enhance transcriptional activity of the nuclear receptors NR3C1 and AR. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. {ECO:0000269|PubMed:15784617, ECO:0000269|PubMed:16949367, ECO:0000269|PubMed:16964240}.

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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Fusion Gene Sequence for SDCCAG8-DCAF6


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for SDCCAG8-DCAF6


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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Related Drugs for SDCCAG8-DCAF6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for SDCCAG8-DCAF6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSDCCAG8C3150877SENIOR-LOKEN SYNDROME 73GENOMICS_ENGLAND
HgeneSDCCAG8C3889474BARDET-BIEDL SYNDROME 163CTD_human;GENOMICS_ENGLAND
HgeneSDCCAG8C0403553Renal dysplasia and retinal aplasia (disorder)2GENOMICS_ENGLAND;ORPHANET
HgeneSDCCAG8C0752166Bardet-Biedl Syndrome2GENOMICS_ENGLAND;ORPHANET
HgeneSDCCAG8C0022679Cystic kidney1CTD_human
HgeneSDCCAG8C0035309Retinal Diseases1CTD_human
HgeneSDCCAG8C0036341Schizophrenia1PSYGENET
HgeneSDCCAG8C1691228Cystic Kidney Diseases1CTD_human
HgeneSDCCAG8C3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneDCAF6C0033578Prostatic Neoplasms1CTD_human
TgeneDCAF6C0376358Malignant neoplasm of prostate1CTD_human