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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: 18038

FusionGeneSummary for JARID2_SGCZ

check button Fusion gene summary
Fusion gene informationFusion gene name: JARID2_SGCZ
Fusion gene ID: 18038
HgeneTgene
Gene symbol

JARID2

SGCZ

Gene ID

3720

137868

Gene namejumonji and AT-rich interaction domain containing 2sarcoglycan zeta
SynonymsJMJZSG1
Cytomap

6p22.3

8p22

Type of geneprotein-codingprotein-coding
Descriptionprotein Jumonjijumonji homologjumonji, AT rich interactive domain 2jumonji-like proteinjumonji/ARID domain-containing protein 2zeta-sarcoglycanzeta-SG
Modification date2018052320180523
UniProtAcc

Q92833

Q96LD1

Ensembl transtripts involved in fusion geneENST00000341776, ENST00000397311, 
ENST00000541660, ENST00000474854, 
ENST00000382080, ENST00000421524, 
Fusion gene scores* DoF score16 X 6 X 10=9605 X 4 X 5=100
# samples 155
** MAII scorelog2(15/960*10)=-2.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: JARID2 [Title/Abstract] AND SGCZ [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
TCGARVBLCATCGA-FD-A6TG-01AJARID2chr6

15246815

+SGCZchr8

14022211

-
* 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-shitENST00000341776ENST00000382080JARID2chr6

15246815

+SGCZchr8

14022211

-
Frame-shitENST00000341776ENST00000421524JARID2chr6

15246815

+SGCZchr8

14022211

-
intron-3CDSENST00000397311ENST00000382080JARID2chr6

15246815

+SGCZchr8

14022211

-
intron-3CDSENST00000397311ENST00000421524JARID2chr6

15246815

+SGCZchr8

14022211

-
intron-3CDSENST00000541660ENST00000382080JARID2chr6

15246815

+SGCZchr8

14022211

-
intron-3CDSENST00000541660ENST00000421524JARID2chr6

15246815

+SGCZchr8

14022211

-
intron-3CDSENST00000474854ENST00000382080JARID2chr6

15246815

+SGCZchr8

14022211

-
intron-3CDSENST00000474854ENST00000421524JARID2chr6

15246815

+SGCZchr8

14022211

-

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FusionProtFeatures for JARID2_SGCZ


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
JARID2

Q92833

SGCZ

Q96LD1

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}. Component of the sarcoglycan complex, a subcomplex ofthe dystrophin-glycoprotein complex which forms a link between theF-actin cytoskeleton and the extracellular matrix. May play a rolein the maintenance of striated muscle membrane stability (Bysimilarity). {ECO:0000250}.

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 JARID2_SGCZ


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 JARID2_SGCZ


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
JARID2EHMT2, EHMT1, EZH2, SUZ12, MTF2, GATA4, SETDB1, ELAVL1, NKX2-5, ALB, EZH1, EED, AEBP2, RBBP4, RBBP7, HDAC2, SLAIN2, NANOG, POU5F1, DDB2SGCZSGCB, HARS, REEP5, GK, ACACA, GNPTAB, RANGRF, ATP5F1, C4orf32, SP3, RTN4, DAGLB, ATP5B


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 JARID2_SGCZ


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 JARID2_SGCZ


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneJARID2C0036341Schizophrenia2PSYGENET
HgeneJARID2C1510586Autism Spectrum Disorders1CTD_human
TgeneSGCZC0236733Amphetamine-Related Disorders1CTD_human