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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: 11029

FusionGeneSummary for EFCAB4B_C12orf4

check button Fusion gene summary
Fusion gene informationFusion gene name: EFCAB4B_C12orf4
Fusion gene ID: 11029
HgeneTgene
Gene symbol

EFCAB4B

C12orf4

Gene ID

84766

57102

Gene namecalcium release activated channel regulator 2Achromosome 12 open reading frame 4
SynonymsEFCAB4B-
Cytomap

12p13.32

12p13.32

Type of geneprotein-codingprotein-coding
DescriptionEF-hand calcium-binding domain-containing protein 4BCRAC channel regulator 2ACRAC regulator 2ACa2+ release-activated Ca2+ (CRAC) channel regulator 2AEF-hand calcium binding domain 4Bcalcium release-activated calcium channel regulator 2Aprotein C12orf4
Modification date2018051920180519
UniProtAcc

Q9NQ89

Ensembl transtripts involved in fusion geneENST00000440314, ENST00000444507, 
ENST00000252322, ENST00000514026, 
ENST00000261250, ENST00000545746, 
ENST00000509318, 
Fusion gene scores* DoF score2 X 2 X 2=85 X 4 X 5=100
# samples 25
** MAII scorelog2(2/8*10)=1.32192809488736log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EFCAB4B [Title/Abstract] AND C12orf4 [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
TCGARVGBMTCGA-06-5856-01AEFCAB4Bchr12

3782612

-C12orf4chr12

4600400

-
* 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-shiftENST00000440314ENST00000261250EFCAB4Bchr12

3782612

-C12orf4chr12

4600400

-
Frame-shiftENST00000440314ENST00000545746EFCAB4Bchr12

3782612

-C12orf4chr12

4600400

-
5CDS-intronENST00000440314ENST00000509318EFCAB4Bchr12

3782612

-C12orf4chr12

4600400

-
Frame-shiftENST00000444507ENST00000261250EFCAB4Bchr12

3782612

-C12orf4chr12

4600400

-
Frame-shiftENST00000444507ENST00000545746EFCAB4Bchr12

3782612

-C12orf4chr12

4600400

-
5CDS-intronENST00000444507ENST00000509318EFCAB4Bchr12

3782612

-C12orf4chr12

4600400

-
Frame-shiftENST00000252322ENST00000261250EFCAB4Bchr12

3782612

-C12orf4chr12

4600400

-
Frame-shiftENST00000252322ENST00000545746EFCAB4Bchr12

3782612

-C12orf4chr12

4600400

-
5CDS-intronENST00000252322ENST00000509318EFCAB4Bchr12

3782612

-C12orf4chr12

4600400

-
intron-3CDSENST00000514026ENST00000261250EFCAB4Bchr12

3782612

-C12orf4chr12

4600400

-
intron-3CDSENST00000514026ENST00000545746EFCAB4Bchr12

3782612

-C12orf4chr12

4600400

-
intron-intronENST00000514026ENST00000509318EFCAB4Bchr12

3782612

-C12orf4chr12

4600400

-

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FusionProtFeatures for EFCAB4B_C12orf4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EFCAB4B

C12orf4

Q9NQ89

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Plays a role in mast cell degranulation.{ECO:0000250|UniProtKB:D4A770}.

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 EFCAB4B_C12orf4


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 EFCAB4B_C12orf4


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
EFCAB4BC12orf4PPP1R21, IL6R, TCP10L


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 EFCAB4B_C12orf4


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 EFCAB4B_C12orf4


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