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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:SOX6-ANKHD1 (FusionGDB2 ID:84754)

Fusion Gene Summary for SOX6-ANKHD1

check button Fusion gene summary
Fusion gene informationFusion gene name: SOX6-ANKHD1
Fusion gene ID: 84754
HgeneTgene
Gene symbol

SOX6

ANKHD1

Gene ID

55553

54882

Gene nameSRY-box transcription factor 6ankyrin repeat and KH domain containing 1
SynonymsHSSOX6|SOXDMASK|MASK1|PP2500|VBARP
Cytomap

11p15.2

5q31.3

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor SOX-6SRY (sex determining region Y)-box 6SRY-box 6SRY-box containing gene 6ankyrin repeat and KH domain-containing protein 1HIV-1 Vpr-binding ankyrin repeat proteinmultiple ankyrin repeats, single KH-domain homolog
Modification date2020031320200313
UniProtAcc.

Q8IWZ3

Ensembl transtripts involved in fusion geneENST00000316399, ENST00000396356, 
ENST00000352083, ENST00000528252, 
ENST00000527619, ENST00000528429, 
ENST00000533658, 		ENST00000360839, 
ENST00000297183, ENST00000394723, 
ENST00000394722, ENST00000462121, 
ENST00000544120, 
Fusion gene scores* DoF score13 X 12 X 8=12485 X 5 X 5=125
# samples 145
** MAII scorelog2(14/1248*10)=-3.15611920191728
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/125*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SOX6 [Title/Abstract] AND ANKHD1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSOX6(16403834)-ANKHD1(139844252), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneSOX6

GO:0032332

positive regulation of chondrocyte differentiation

21401405

HgeneSOX6

GO:0061036

positive regulation of cartilage development

21401405

HgeneSOX6

GO:0071560

cellular response to transforming growth factor beta stimulus

21401405

HgeneSOX6

GO:2000741

positive regulation of mesenchymal stem cell differentiation

21401405


check buttonFusion gene breakpoints across SOX6 (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 ANKHD1 (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
ChimerDB4Non-CancerERR315333SOX6chr11

16403834

-ANKHD1chr5

139844252

+


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Fusion Gene ORF analysis for SOX6-ANKHD1

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
intron-3CDSENST00000316399ENST00000360839SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000316399ENST00000297183SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000316399ENST00000394723SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000316399ENST00000394722SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-intronENST00000316399ENST00000462121SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-intronENST00000316399ENST00000544120SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000396356ENST00000360839SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000396356ENST00000297183SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000396356ENST00000394723SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000396356ENST00000394722SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-intronENST00000396356ENST00000462121SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-intronENST00000396356ENST00000544120SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000352083ENST00000360839SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000352083ENST00000297183SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000352083ENST00000394723SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000352083ENST00000394722SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-intronENST00000352083ENST00000462121SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-intronENST00000352083ENST00000544120SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000528252ENST00000360839SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000528252ENST00000297183SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000528252ENST00000394723SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000528252ENST00000394722SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-intronENST00000528252ENST00000462121SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-intronENST00000528252ENST00000544120SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000527619ENST00000360839SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000527619ENST00000297183SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000527619ENST00000394723SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000527619ENST00000394722SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-intronENST00000527619ENST00000462121SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-intronENST00000527619ENST00000544120SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000528429ENST00000360839SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000528429ENST00000297183SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000528429ENST00000394723SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000528429ENST00000394722SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-intronENST00000528429ENST00000462121SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-intronENST00000528429ENST00000544120SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000533658ENST00000360839SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000533658ENST00000297183SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000533658ENST00000394723SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-3CDSENST00000533658ENST00000394722SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-intronENST00000533658ENST00000462121SOX6chr11

16403834

-ANKHD1chr5

139844252

+
intron-intronENST00000533658ENST00000544120SOX6chr11

16403834

-ANKHD1chr5

139844252

+

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 SOX6-ANKHD1


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)

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 SOX6-ANKHD1


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
.ANKHD1

Q8IWZ3

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: May play a role as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells. Isoform 2 may possess an antiapoptotic effect and protect cells during normal cell survival through its regulation of caspases. {ECO:0000269|PubMed:16098192}.

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 SOX6-ANKHD1


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 SOX6-ANKHD1


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 SOX6-ANKHD1


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 SOX6-ANKHD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSOX6C3495676Anorectal Malformations1GENOMICS_ENGLAND