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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: 11057

FusionGeneSummary for EFHD2_FHAD1

check button Fusion gene summary
Fusion gene informationFusion gene name: EFHD2_FHAD1
Fusion gene ID: 11057
HgeneTgene
Gene symbol

EFHD2

FHAD1

Gene ID

79180

114827

Gene nameEF-hand domain family member D2forkhead associated phosphopeptide binding domain 1
SynonymsSWS1-
Cytomap

1p36.21

1p36.21

Type of geneprotein-codingprotein-coding
DescriptionEF-hand domain-containing protein D2EF hand domain containing 2swiprosin 1testicular tissue protein Li 62forkhead-associated domain-containing protein 1FHA domain-containing protein 1forkhead-associated (FHA) phosphopeptide binding domain 1
Modification date2018052220180403
UniProtAcc

Q96C19

B1AJZ9

Ensembl transtripts involved in fusion geneENST00000375980, ENST00000375999, 
ENST00000417793, ENST00000358897, 
ENST00000375998, ENST00000375995, 
ENST00000401090, ENST00000471347, 
ENST00000314740, 
Fusion gene scores* DoF score4 X 4 X 4=646 X 6 X 5=180
# samples 46
** MAII scorelog2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/180*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EFHD2 [Title/Abstract] AND FHAD1 [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
TCGARVLUADTCGA-L9-A7SV-01AEFHD2chr1

15736775

+FHAD1chr1

15695866

+
* 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
In-frameENST00000375980ENST00000375999EFHD2chr1

15736775

+FHAD1chr1

15695866

+
In-frameENST00000375980ENST00000417793EFHD2chr1

15736775

+FHAD1chr1

15695866

+
In-frameENST00000375980ENST00000358897EFHD2chr1

15736775

+FHAD1chr1

15695866

+
In-frameENST00000375980ENST00000375998EFHD2chr1

15736775

+FHAD1chr1

15695866

+
5CDS-intronENST00000375980ENST00000375995EFHD2chr1

15736775

+FHAD1chr1

15695866

+
5CDS-intronENST00000375980ENST00000401090EFHD2chr1

15736775

+FHAD1chr1

15695866

+
5CDS-3UTRENST00000375980ENST00000471347EFHD2chr1

15736775

+FHAD1chr1

15695866

+
5CDS-3UTRENST00000375980ENST00000314740EFHD2chr1

15736775

+FHAD1chr1

15695866

+

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FusionProtFeatures for EFHD2_FHAD1


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

Q96C19

FHAD1

B1AJZ9

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
TgeneFHAD1chr1:15736775chr1:15695866ENST00000358897+23311141_116910821413Coiled coilOntology_term=ECO:0000255
TgeneFHAD1chr1:15736775chr1:15695866ENST00000358897+23311292_136010821413Coiled coilOntology_term=ECO:0000255
TgeneFHAD1chr1:15736775chr1:15695866ENST00000375998+22301141_116910821413Coiled coilOntology_term=ECO:0000255
TgeneFHAD1chr1:15736775chr1:15695866ENST00000375998+22301292_136010821413Coiled coilOntology_term=ECO:0000255
TgeneFHAD1chr1:15736775chr1:15695866ENST00000375999+23331141_116910821454Coiled coilOntology_term=ECO:0000255
TgeneFHAD1chr1:15736775chr1:15695866ENST00000375999+23331292_136010821454Coiled coilOntology_term=ECO:0000255
TgeneFHAD1chr1:15736775chr1:15695866ENST00000417793+22301141_116910461377Coiled coilOntology_term=ECO:0000255
TgeneFHAD1chr1:15736775chr1:15695866ENST00000417793+22301292_136010461377Coiled coilOntology_term=ECO:0000255

- In-frame and not-retained protein feature among the 13 regional features.
>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEFHD2chr1:15736775chr1:15695866ENST00000375980+14105_116102241Calcium binding1
HgeneEFHD2chr1:15736775chr1:15695866ENST00000375980+14141_152102241Calcium binding2
HgeneEFHD2chr1:15736775chr1:15695866ENST00000375980+14128_163102241DomainEF-hand 2
HgeneEFHD2chr1:15736775chr1:15695866ENST00000375980+1492_127102241DomainEF-hand 1
TgeneFHAD1chr1:15736775chr1:15695866ENST00000358897+2331250_46610821413Coiled coilOntology_term=ECO:0000255
TgeneFHAD1chr1:15736775chr1:15695866ENST00000358897+2331692_96310821413Coiled coilOntology_term=ECO:0000255
TgeneFHAD1chr1:15736775chr1:15695866ENST00000358897+2331999_109910821413Coiled coilOntology_term=ECO:0000255
TgeneFHAD1chr1:15736775chr1:15695866ENST00000375998+2230250_46610821413Coiled coilOntology_term=ECO:0000255
TgeneFHAD1chr1:15736775chr1:15695866ENST00000375998+2230692_96310821413Coiled coilOntology_term=ECO:0000255
TgeneFHAD1chr1:15736775chr1:15695866ENST00000375998+2230999_109910821413Coiled coilOntology_term=ECO:0000255
TgeneFHAD1chr1:15736775chr1:15695866ENST00000375999+2333250_46610821454Coiled coilOntology_term=ECO:0000255
TgeneFHAD1chr1:15736775chr1:15695866ENST00000375999+2333692_96310821454Coiled coilOntology_term=ECO:0000255
TgeneFHAD1chr1:15736775chr1:15695866ENST00000375999+2333999_109910821454Coiled coilOntology_term=ECO:0000255
TgeneFHAD1chr1:15736775chr1:15695866ENST00000417793+2230250_46610461377Coiled coilOntology_term=ECO:0000255
TgeneFHAD1chr1:15736775chr1:15695866ENST00000417793+2230692_96310461377Coiled coilOntology_term=ECO:0000255
TgeneFHAD1chr1:15736775chr1:15695866ENST00000417793+2230999_109910461377Coiled coilOntology_term=ECO:0000255
TgeneFHAD1chr1:15736775chr1:15695866ENST00000358897+233198_16010821413Compositional biasNote=Pro-rich
TgeneFHAD1chr1:15736775chr1:15695866ENST00000375998+223098_16010821413Compositional biasNote=Pro-rich
TgeneFHAD1chr1:15736775chr1:15695866ENST00000375999+233398_16010821454Compositional biasNote=Pro-rich
TgeneFHAD1chr1:15736775chr1:15695866ENST00000417793+223098_16010461377Compositional biasNote=Pro-rich
TgeneFHAD1chr1:15736775chr1:15695866ENST00000358897+233118_6910821413DomainFHA
TgeneFHAD1chr1:15736775chr1:15695866ENST00000375998+223018_6910821413DomainFHA
TgeneFHAD1chr1:15736775chr1:15695866ENST00000375999+233318_6910821454DomainFHA
TgeneFHAD1chr1:15736775chr1:15695866ENST00000417793+223018_6910461377DomainFHA


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FusionGeneSequence for EFHD2_FHAD1


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_FHAD1


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, FSD1FHAD1


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_FHAD1


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_FHAD1


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