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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: 11055

FusionGeneSummary for EFHD2_CTRB2

check button Fusion gene summary
Fusion gene informationFusion gene name: EFHD2_CTRB2
Fusion gene ID: 11055
HgeneTgene
Gene symbol

EFHD2

CTRB2

Gene ID

79180

440387

Gene nameEF-hand domain family member D2chymotrypsinogen B2
SynonymsSWS1-
Cytomap

1p36.21

16q23.1

Type of geneprotein-codingprotein-coding
DescriptionEF-hand domain-containing protein D2EF hand domain containing 2swiprosin 1testicular tissue protein Li 62chymotrypsinogen B2chymotrypsin B2
Modification date2018052220180519
UniProtAcc

Q96C19

Q6GPI1

Ensembl transtripts involved in fusion geneENST00000375980, ENST00000303037, 
Fusion gene scores* DoF score4 X 4 X 4=642 X 2 X 1=4
# samples 42
** MAII scorelog2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: EFHD2 [Title/Abstract] AND CTRB2 [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
TCGALDPAADTCGA-HZ-8003-01AEFHD2chr1

15755891

+CTRB2chr16

75240009

-
* 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
3UTR-3CDSENST00000375980ENST00000303037EFHD2chr1

15755891

+CTRB2chr16

75240009

-

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FusionProtFeatures for EFHD2_CTRB2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EFHD2

Q96C19

CTRB2

Q6GPI1

May regulate B-cell receptor (BCR)-induced immature andprimary B-cell apoptosis. Plays a role as negative regulator ofthe canonical NF-kappa-B-activating branch. Controls spontaneousapoptosis through the regulation of BCL2L1 abundance.{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 EFHD2_CTRB2


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 EFHD2_CTRB2


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
EFHD2ELAVL1, LRRK2, APP, PAN2, FBXO6, CHMP4A, COASY, DCK, ENO2, GLRX3, GMPS, IDH1, PTPN11, RCN1, TSTA3, ACTR2, ARPC2, ARPC3, ARPC4-TTLL3, ARPC4, RAE1, TMOD1, VARS, MYH9, LIMA1, MYO18A, USP11, CDH1, GTF2E2, FSD1CTRB2CTRB1


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 EFHD2_CTRB2


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 EFHD2_CTRB2


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