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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: 18363

FusionGeneSummary for KCTD20_JARID2

check button Fusion gene summary
Fusion gene informationFusion gene name: KCTD20_JARID2
Fusion gene ID: 18363
HgeneTgene
Gene symbol

KCTD20

JARID2

Gene ID

222658

3720

Gene namepotassium channel tetramerization domain containing 20jumonji and AT-rich interaction domain containing 2
SynonymsC6orf69|dJ108K11.3JMJ
Cytomap

6p21.31

6p22.3

Type of geneprotein-codingprotein-coding
DescriptionBTB/POZ domain-containing protein KCTD20potassium channel tetramerisation domain containing 20protein Jumonjijumonji homologjumonji, AT rich interactive domain 2jumonji-like proteinjumonji/ARID domain-containing protein 2
Modification date2018051920180523
UniProtAcc

Q7Z5Y7

Q92833

Ensembl transtripts involved in fusion geneENST00000373731, ENST00000474988, 
ENST00000544295, ENST00000449081, 
ENST00000536244, 
ENST00000341776, 
ENST00000397311, ENST00000541660, 
ENST00000474854, 
Fusion gene scores* DoF score7 X 2 X 7=984 X 4 X 3=48
# samples 74
** MAII scorelog2(7/98*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KCTD20 [Title/Abstract] AND JARID2 [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
TCGARVBRCATCGA-D8-A27H-01AKCTD20chr6

36438034

+JARID2chr6

15374348

+
* 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
Frame-shiftENST00000373731ENST00000341776KCTD20chr6

36438034

+JARID2chr6

15374348

+
5CDS-5UTRENST00000373731ENST00000397311KCTD20chr6

36438034

+JARID2chr6

15374348

+
5CDS-intronENST00000373731ENST00000541660KCTD20chr6

36438034

+JARID2chr6

15374348

+
5CDS-intronENST00000373731ENST00000474854KCTD20chr6

36438034

+JARID2chr6

15374348

+
intron-3CDSENST00000474988ENST00000341776KCTD20chr6

36438034

+JARID2chr6

15374348

+
intron-5UTRENST00000474988ENST00000397311KCTD20chr6

36438034

+JARID2chr6

15374348

+
intron-intronENST00000474988ENST00000541660KCTD20chr6

36438034

+JARID2chr6

15374348

+
intron-intronENST00000474988ENST00000474854KCTD20chr6

36438034

+JARID2chr6

15374348

+
5UTR-3CDSENST00000544295ENST00000341776KCTD20chr6

36438034

+JARID2chr6

15374348

+
5UTR-5UTRENST00000544295ENST00000397311KCTD20chr6

36438034

+JARID2chr6

15374348

+
5UTR-intronENST00000544295ENST00000541660KCTD20chr6

36438034

+JARID2chr6

15374348

+
5UTR-intronENST00000544295ENST00000474854KCTD20chr6

36438034

+JARID2chr6

15374348

+
Frame-shiftENST00000449081ENST00000341776KCTD20chr6

36438034

+JARID2chr6

15374348

+
5CDS-5UTRENST00000449081ENST00000397311KCTD20chr6

36438034

+JARID2chr6

15374348

+
5CDS-intronENST00000449081ENST00000541660KCTD20chr6

36438034

+JARID2chr6

15374348

+
5CDS-intronENST00000449081ENST00000474854KCTD20chr6

36438034

+JARID2chr6

15374348

+
5UTR-3CDSENST00000536244ENST00000341776KCTD20chr6

36438034

+JARID2chr6

15374348

+
5UTR-5UTRENST00000536244ENST00000397311KCTD20chr6

36438034

+JARID2chr6

15374348

+
5UTR-intronENST00000536244ENST00000541660KCTD20chr6

36438034

+JARID2chr6

15374348

+
5UTR-intronENST00000536244ENST00000474854KCTD20chr6

36438034

+JARID2chr6

15374348

+

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FusionProtFeatures for KCTD20_JARID2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KCTD20

Q7Z5Y7

JARID2

Q92833

Promotes the phosphorylation of AKT family members.{ECO:0000250|UniProtKB:Q8CDD8}. Regulator of histone methyltransferase complexes thatplays an essential role in embryonic development, including heartand liver development, neural tube fusion process andhematopoiesis. Acts by modulating histone methyltransferaseactivity and promoting the recruitment of histonemethyltransferase complexes to their target genes. Binds DNA andmediates the recruitment of the PRC2 complex to target genes inembryonic stem cells. Does not have histone demethylase activitybut regulates activity of various histone methyltransferasecomplexes. In embryonic stem cells, it associates with the PRC2complex and inhibits trimethylation of 'Lys-27' of histone H3(H3K27me3) by the PRC2 complex, thereby playing a key role indifferentiation of embryonic stem cells and normal development. Incardiac cells, it is required to repress expression of cyclin-D1(CCND1) by activating methylation of 'Lys-9' of histone H3(H3K9me) by the GLP1/EHMT1 and G9a/EHMT2 histonemethyltransferases. Also acts as a transcriptional repressor ofANF via its interaction with GATA4 and NKX2-5. Participates in thenegative regulation of cell proliferation signaling.{ECO:0000269|PubMed:20075857}.

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 KCTD20_JARID2


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 KCTD20_JARID2


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
KCTD20MARK4, PPP1CA, CUL3, PPP1CC, BUB3, XPO1, COPS7A, DUSP16, TRIM25JARID2EHMT2, EHMT1, EZH2, SUZ12, MTF2, GATA4, SETDB1, ELAVL1, NKX2-5, ALB, EZH1, EED, AEBP2, RBBP4, RBBP7, HDAC2, SLAIN2, NANOG, POU5F1, DDB2


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 KCTD20_JARID2


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 KCTD20_JARID2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneJARID2C0036341Schizophrenia2PSYGENET
TgeneJARID2C1510586Autism Spectrum Disorders1CTD_human