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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: 11053

FusionGeneSummary for EFHD1_OLFM3

check button Fusion gene summary
Fusion gene informationFusion gene name: EFHD1_OLFM3
Fusion gene ID: 11053
HgeneTgene
Gene symbol

EFHD1

OLFM3

Gene ID

80303

118427

Gene nameEF-hand domain family member D1olfactomedin 3
SynonymsMST133|MSTP133|PP3051|SWS2NOE3|NOELIN3|OPTIMEDIN
Cytomap

2q37.1

1p21.1

Type of geneprotein-codingprotein-coding
DescriptionEF-hand domain-containing protein D1EF-hand domain-containing protein 1swiprosin-2noelin-3olfactomedin related ER localized protein 3
Modification date2018051920180519
UniProtAcc

Q9BUP0

Q96PB7

Ensembl transtripts involved in fusion geneENST00000409613, ENST00000264059, 
ENST00000409708, ENST00000410095, 
ENST00000370103, ENST00000462354, 
ENST00000536598, ENST00000338858, 
ENST00000359814, 
Fusion gene scores* DoF score5 X 5 X 2=502 X 2 X 2=8
# samples 62
** MAII scorelog2(6/50*10)=0.263034405833794
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(2/8*10)=1.32192809488736
Context

PubMed: EFHD1 [Title/Abstract] AND OLFM3 [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
ChiTaRS3.1BF944253EFHD1chr2

233547169

+OLFM3chr1

102268965

-
* 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-3UTRENST00000409613ENST00000370103EFHD1chr2

233547169

+OLFM3chr1

102268965

-
intron-intronENST00000409613ENST00000462354EFHD1chr2

233547169

+OLFM3chr1

102268965

-
intron-intronENST00000409613ENST00000536598EFHD1chr2

233547169

+OLFM3chr1

102268965

-
intron-intronENST00000409613ENST00000338858EFHD1chr2

233547169

+OLFM3chr1

102268965

-
intron-intronENST00000409613ENST00000359814EFHD1chr2

233547169

+OLFM3chr1

102268965

-
3UTR-3UTRENST00000264059ENST00000370103EFHD1chr2

233547169

+OLFM3chr1

102268965

-
3UTR-intronENST00000264059ENST00000462354EFHD1chr2

233547169

+OLFM3chr1

102268965

-
3UTR-intronENST00000264059ENST00000536598EFHD1chr2

233547169

+OLFM3chr1

102268965

-
3UTR-intronENST00000264059ENST00000338858EFHD1chr2

233547169

+OLFM3chr1

102268965

-
3UTR-intronENST00000264059ENST00000359814EFHD1chr2

233547169

+OLFM3chr1

102268965

-
3UTR-3UTRENST00000409708ENST00000370103EFHD1chr2

233547169

+OLFM3chr1

102268965

-
3UTR-intronENST00000409708ENST00000462354EFHD1chr2

233547169

+OLFM3chr1

102268965

-
3UTR-intronENST00000409708ENST00000536598EFHD1chr2

233547169

+OLFM3chr1

102268965

-
3UTR-intronENST00000409708ENST00000338858EFHD1chr2

233547169

+OLFM3chr1

102268965

-
3UTR-intronENST00000409708ENST00000359814EFHD1chr2

233547169

+OLFM3chr1

102268965

-
3UTR-3UTRENST00000410095ENST00000370103EFHD1chr2

233547169

+OLFM3chr1

102268965

-
3UTR-intronENST00000410095ENST00000462354EFHD1chr2

233547169

+OLFM3chr1

102268965

-
3UTR-intronENST00000410095ENST00000536598EFHD1chr2

233547169

+OLFM3chr1

102268965

-
3UTR-intronENST00000410095ENST00000338858EFHD1chr2

233547169

+OLFM3chr1

102268965

-
3UTR-intronENST00000410095ENST00000359814EFHD1chr2

233547169

+OLFM3chr1

102268965

-

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FusionProtFeatures for EFHD1_OLFM3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EFHD1

Q9BUP0

OLFM3

Q96PB7

Acts as a calcium sensor for mitochondrial flash(mitoflash) activation, an event characterized by stochasticbursts of superoxide production (PubMed:26975899). May play a rolein neuronal differentiation (By similarity).{ECO:0000250|UniProtKB:Q9D4J1, ECO:0000269|PubMed:26975899}.

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 EFHD1_OLFM3


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 EFHD1_OLFM3


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 EFHD1_OLFM3


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 EFHD1_OLFM3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEFHD1C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneEFHD1C0036095Salivary Gland Neoplasms1CTD_human