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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: 18353

FusionGeneSummary for KCTD12_ROBO2

check button Fusion gene summary
Fusion gene informationFusion gene name: KCTD12_ROBO2
Fusion gene ID: 18353
HgeneTgene
Gene symbol

KCTD12

ROBO2

Gene ID

115207

6092

Gene namepotassium channel tetramerization domain containing 12roundabout guidance receptor 2
SynonymsC13orf2|PFET1|PFETINSAX3
Cytomap

13q22.3

3p12.3

Type of geneprotein-codingprotein-coding
DescriptionBTB/POZ domain-containing protein KCTD12potassium channel tetramerisation domain containing 12predominantly fetal expressed T1 domaintesticular tissue protein Li 100roundabout homolog 2roundabout, axon guidance receptor, homolog 2
Modification date2018051920180519
UniProtAcc

Q96CX2

Q9HCK4

Ensembl transtripts involved in fusion geneENST00000377474, ENST00000317765, 
ENST00000487694, ENST00000461745, 
ENST00000332191, ENST00000469233, 
Fusion gene scores* DoF score2 X 2 X 1=48 X 8 X 6=384
# samples 28
** MAII scorelog2(2/4*10)=2.32192809488736log2(8/384*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KCTD12 [Title/Abstract] AND ROBO2 [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
TgeneROBO2

GO:0007156

homophilic cell adhesion via plasma membrane adhesion molecules

12504588

TgeneROBO2

GO:0050772

positive regulation of axonogenesis

12504588

TgeneROBO2

GO:0050925

negative regulation of negative chemotaxis

11748139


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
ChiTaRS3.1DA496044KCTD12chr13

77460491

-ROBO2chr3

77595513

+
* 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
intron-3CDSENST00000377474ENST00000487694KCTD12chr13

77460491

-ROBO2chr3

77595513

+
intron-3CDSENST00000377474ENST00000461745KCTD12chr13

77460491

-ROBO2chr3

77595513

+
intron-3CDSENST00000377474ENST00000332191KCTD12chr13

77460491

-ROBO2chr3

77595513

+
intron-intronENST00000377474ENST00000469233KCTD12chr13

77460491

-ROBO2chr3

77595513

+
intron-3CDSENST00000317765ENST00000487694KCTD12chr13

77460491

-ROBO2chr3

77595513

+
intron-3CDSENST00000317765ENST00000461745KCTD12chr13

77460491

-ROBO2chr3

77595513

+
intron-3CDSENST00000317765ENST00000332191KCTD12chr13

77460491

-ROBO2chr3

77595513

+
intron-intronENST00000317765ENST00000469233KCTD12chr13

77460491

-ROBO2chr3

77595513

+

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FusionProtFeatures for KCTD12_ROBO2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KCTD12

Q96CX2

ROBO2

Q9HCK4

Auxiliary subunit of GABA-B receptors that determine thepharmacology and kinetics of the receptor response. Increasesagonist potency and markedly alter the G-protein signaling of thereceptors by accelerating onset and promoting desensitization (Bysimilarity). {ECO:0000250}. Receptor for SLIT2, and probably SLIT1, which arethought to act as molecular guidance cue in cellular migration,including axonal navigation at the ventral midline of the neuraltube and projection of axons to different regions during neuronaldevelopment.

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 KCTD12_ROBO2


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 KCTD12_ROBO2


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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RelatedDrugs for KCTD12_ROBO2


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 KCTD12_ROBO2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKCTD12C0005586Bipolar Disorder1PSYGENET
HgeneKCTD12C0036341Schizophrenia1PSYGENET
HgeneKCTD12C0525045Mood Disorders1PSYGENET
TgeneROBO2C0004352Autistic Disorder1CTD_human
TgeneROBO2C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneROBO2C0023897Liver Diseases, Parasitic1CTD_human
TgeneROBO2C0206698Cholangiocarcinoma1CTD_human
TgeneROBO2C1970483Vesicoureteral Reflux 21CTD_human;UNIPROT