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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:KANK1-DMRT1 (FusionGDB2 ID:40906)

Fusion Gene Summary for KANK1-DMRT1

check button Fusion gene summary
Fusion gene informationFusion gene name: KANK1-DMRT1
Fusion gene ID: 40906
HgeneTgene
Gene symbol

KANK1

DMRT1

Gene ID

23189

1761

Gene nameKN motif and ankyrin repeat domains 1doublesex and mab-3 related transcription factor 1
SynonymsANKRD15|CPSQ2|KANKCT154|DMT1
Cytomap

9p24.3

9p24.3

Type of geneprotein-codingprotein-coding
DescriptionKN motif and ankyrin repeat domain-containing protein 1ankyrin repeat domain-containing protein 15kidney ankyrin repeat-containing proteindoublesex- and mab-3-related transcription factor 1DM domain expressed in testis 1DM domain expressed in testis protein 1
Modification date2020031320200313
UniProtAcc

Q14678

.
Ensembl transtripts involved in fusion geneENST00000382303, ENST00000489369, 
ENST00000382297, ENST00000382293, 
ENST00000382276, ENST00000569227, 
Fusion gene scores* DoF score16 X 13 X 10=20803 X 5 X 3=45
# samples 235
** MAII scorelog2(23/2080*10)=-3.17687776208408
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/45*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: KANK1 [Title/Abstract] AND DMRT1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKANK1(504754)-DMRT1(893911), # samples:1
KANK1(504754)-DMRT1(893912), # 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
HgeneKANK1

GO:0010977

negative regulation of neuron projection development

19171758

HgeneKANK1

GO:0030177

positive regulation of Wnt signaling pathway

16968744

HgeneKANK1

GO:0030837

negative regulation of actin filament polymerization

17996375|18458160

HgeneKANK1

GO:1900025

negative regulation of substrate adhesion-dependent cell spreading

19171758

HgeneKANK1

GO:1900028

negative regulation of ruffle assembly

19171758

HgeneKANK1

GO:2000393

negative regulation of lamellipodium morphogenesis

19171758


check buttonFusion gene breakpoints across KANK1 (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 DMRT1 (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
ChimerDB4BLCATCGA-ZF-A9RMKANK1chr9

504754

+DMRT1chr9

893911

+
ChimerDB4BLCATCGA-ZF-A9RM-01AKANK1chr9

504754

+DMRT1chr9

893912

+


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Fusion Gene ORF analysis for KANK1-DMRT1

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-3CDSENST00000382303ENST00000382276KANK1chr9

504754

+DMRT1chr9

893911

+
intron-3CDSENST00000382303ENST00000569227KANK1chr9

504754

+DMRT1chr9

893911

+
3UTR-3CDSENST00000489369ENST00000382276KANK1chr9

504754

+DMRT1chr9

893911

+
3UTR-3CDSENST00000489369ENST00000569227KANK1chr9

504754

+DMRT1chr9

893911

+
5UTR-3CDSENST00000382297ENST00000382276KANK1chr9

504754

+DMRT1chr9

893911

+
5UTR-3CDSENST00000382297ENST00000569227KANK1chr9

504754

+DMRT1chr9

893911

+
intron-3CDSENST00000382293ENST00000382276KANK1chr9

504754

+DMRT1chr9

893911

+
intron-3CDSENST00000382293ENST00000569227KANK1chr9

504754

+DMRT1chr9

893911

+
intron-3CDSENST00000382303ENST00000382276KANK1chr9

504754

+DMRT1chr9

893912

+
intron-3CDSENST00000382303ENST00000569227KANK1chr9

504754

+DMRT1chr9

893912

+
3UTR-3CDSENST00000489369ENST00000382276KANK1chr9

504754

+DMRT1chr9

893912

+
3UTR-3CDSENST00000489369ENST00000569227KANK1chr9

504754

+DMRT1chr9

893912

+
5UTR-3CDSENST00000382297ENST00000382276KANK1chr9

504754

+DMRT1chr9

893912

+
5UTR-3CDSENST00000382297ENST00000569227KANK1chr9

504754

+DMRT1chr9

893912

+
intron-3CDSENST00000382293ENST00000382276KANK1chr9

504754

+DMRT1chr9

893912

+
intron-3CDSENST00000382293ENST00000569227KANK1chr9

504754

+DMRT1chr9

893912

+

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 KANK1-DMRT1


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)
KANK1chr9504754+DMRT1chr9893911+2.93E-091
KANK1chr9504754+DMRT1chr9893911+2.93E-091
KANK1chr9504754+DMRT1chr9893911+2.93E-091
KANK1chr9504754+DMRT1chr9893911+2.93E-091

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 KANK1-DMRT1


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
KANK1

Q14678

.
FUNCTION: Involved in the control of cytoskeleton formation by regulating actin polymerization. Inhibits actin fiber formation and cell migration (PubMed:25961457). Inhibits RhoA activity; the function involves phosphorylation through PI3K/Akt signaling and may depend on the competetive interaction with 14-3-3 adapter proteins to sequester them from active complexes (PubMed:25961457). Inhibits the formation of lamellipodia but not of filopodia; the function may depend on the competetive interaction with BAIAP2 to block its association with activated RAC1 (PubMed:25961457). Inhibits fibronectin-mediated cell spreading; the function is partially mediated by BAIAP2. Inhibits neurite outgrowth. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. In the nucleus, is involved in beta-catenin-dependent activation of transcription. Potential tumor suppressor for renal cell carcinoma. Regulates Rac signaling pathways (PubMed:25961457). {ECO:0000269|PubMed:16968744, ECO:0000269|PubMed:18458160, ECO:0000269|PubMed:19171758, ECO:0000269|PubMed:22084092, ECO:0000269|PubMed:25961457}.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.

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 KANK1-DMRT1


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 KANK1-DMRT1


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 KANK1-DMRT1


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 KANK1-DMRT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKANK1C0001973Alcoholic Intoxication, Chronic1PSYGENET
HgeneKANK1C0008370Cholestasis1CTD_human
HgeneKANK1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneKANK1C0027726Nephrotic Syndrome1GENOMICS_ENGLAND
HgeneKANK1C2751938Cerebral Palsy, Spastic Quadriplegic, 11ORPHANET
HgeneKANK1C2752061Cerebral Palsy, Spastic Quadriplegic, 21CTD_human;GENOMICS_ENGLAND
TgeneDMRT1C0018054Gonadal Dysgenesis, 46,XY1ORPHANET
TgeneDMRT1C0027654Embryonal Neoplasm1CTD_human
TgeneDMRT1C0027658Neoplasms, Germ Cell and Embryonal1CTD_human
TgeneDMRT1C0039590Testicular Neoplasms1CTD_human
TgeneDMRT1C0153594Malignant neoplasm of testis1CTD_human
TgeneDMRT1C0205851Germ cell tumor1CTD_human
TgeneDMRT1C0205852Neoplasms, Embryonal and Mixed1CTD_human
TgeneDMRT1C0740345Germ Cell Cancer1CTD_human
TgeneDMRT1C0751364Cancer, Embryonal1CTD_human
TgeneDMRT1C0751365Cancer, Embryonal and Mixed1CTD_human
TgeneDMRT1C1720811Tumor of Rete Testis1CTD_human
TgeneDMRT1C2936694Swyer Syndrome1ORPHANET