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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: 11048

FusionGeneSummary for EFHC1_TCEAL4

check button Fusion gene summary
Fusion gene informationFusion gene name: EFHC1_TCEAL4
Fusion gene ID: 11048
HgeneTgene
Gene symbol

EFHC1

TCEAL4

Gene ID

114327

79921

Gene nameEF-hand domain containing 1transcription elongation factor A like 4
SynonymsEJM1|dJ304B14.2NPD017|WEX7
Cytomap

6p12.2

Xq22.2

Type of geneprotein-codingprotein-coding
DescriptionEF-hand domain-containing protein 1EF-hand domain (C-terminal) containing 1myoclonin-1transcription elongation factor A protein-like 4TCEA-like protein 4transcription elongation factor A (SII)-like 4transcription elongation factor S-II protein-like 4
Modification date2018051920180523
UniProtAcc

Q5JVL4

Q96EI5

Ensembl transtripts involved in fusion geneENST00000371068, ENST00000491749, 
ENST00000433625, ENST00000538167, 
ENST00000372629, ENST00000468024, 
ENST00000472484, ENST00000415568, 
ENST00000472745, ENST00000494801, 
Fusion gene scores* DoF score9 X 9 X 4=3242 X 2 X 1=4
# samples 92
** MAII scorelog2(9/324*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: EFHC1 [Title/Abstract] AND TCEAL4 [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
ChiTaRS3.1BE700058EFHC1chr6

52367821

-TCEAL4chrX

102841697

-
* 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-3CDSENST00000371068ENST00000372629EFHC1chr6

52367821

-TCEAL4chrX

102841697

-
intron-3CDSENST00000371068ENST00000468024EFHC1chr6

52367821

-TCEAL4chrX

102841697

-
intron-3CDSENST00000371068ENST00000472484EFHC1chr6

52367821

-TCEAL4chrX

102841697

-
intron-3CDSENST00000371068ENST00000415568EFHC1chr6

52367821

-TCEAL4chrX

102841697

-
intron-3CDSENST00000371068ENST00000472745EFHC1chr6

52367821

-TCEAL4chrX

102841697

-
intron-3CDSENST00000371068ENST00000494801EFHC1chr6

52367821

-TCEAL4chrX

102841697

-
intron-3CDSENST00000491749ENST00000372629EFHC1chr6

52367821

-TCEAL4chrX

102841697

-
intron-3CDSENST00000491749ENST00000468024EFHC1chr6

52367821

-TCEAL4chrX

102841697

-
intron-3CDSENST00000491749ENST00000472484EFHC1chr6

52367821

-TCEAL4chrX

102841697

-
intron-3CDSENST00000491749ENST00000415568EFHC1chr6

52367821

-TCEAL4chrX

102841697

-
intron-3CDSENST00000491749ENST00000472745EFHC1chr6

52367821

-TCEAL4chrX

102841697

-
intron-3CDSENST00000491749ENST00000494801EFHC1chr6

52367821

-TCEAL4chrX

102841697

-
intron-3CDSENST00000433625ENST00000372629EFHC1chr6

52367821

-TCEAL4chrX

102841697

-
intron-3CDSENST00000433625ENST00000468024EFHC1chr6

52367821

-TCEAL4chrX

102841697

-
intron-3CDSENST00000433625ENST00000472484EFHC1chr6

52367821

-TCEAL4chrX

102841697

-
intron-3CDSENST00000433625ENST00000415568EFHC1chr6

52367821

-TCEAL4chrX

102841697

-
intron-3CDSENST00000433625ENST00000472745EFHC1chr6

52367821

-TCEAL4chrX

102841697

-
intron-3CDSENST00000433625ENST00000494801EFHC1chr6

52367821

-TCEAL4chrX

102841697

-
intron-3CDSENST00000538167ENST00000372629EFHC1chr6

52367821

-TCEAL4chrX

102841697

-
intron-3CDSENST00000538167ENST00000468024EFHC1chr6

52367821

-TCEAL4chrX

102841697

-
intron-3CDSENST00000538167ENST00000472484EFHC1chr6

52367821

-TCEAL4chrX

102841697

-
intron-3CDSENST00000538167ENST00000415568EFHC1chr6

52367821

-TCEAL4chrX

102841697

-
intron-3CDSENST00000538167ENST00000472745EFHC1chr6

52367821

-TCEAL4chrX

102841697

-
intron-3CDSENST00000538167ENST00000494801EFHC1chr6

52367821

-TCEAL4chrX

102841697

-

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FusionProtFeatures for EFHC1_TCEAL4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EFHC1

Q5JVL4

TCEAL4

Q96EI5

Microtubule-associated protein which regulates celldivision and neuronal migration during cortical development.Necessary for mitotic spindle organization (PubMed:19734894,PubMed:28370826). Necessary for radial and tangential cellmigration during brain development, possibly acting as a regulatorof cell morphology and process formation during migration(PubMed:22926142). May enhance calcium influx through CACNA1E andstimulate programmed cell death (PubMed:15258581).{ECO:0000269|PubMed:15258581, ECO:0000269|PubMed:19734894,ECO:0000269|PubMed:22926142, ECO:0000269|PubMed:28370826}. May be involved in transcriptional regulation.

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 EFHC1_TCEAL4


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 EFHC1_TCEAL4


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 EFHC1_TCEAL4


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 EFHC1_TCEAL4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEFHC1C0270853Myoclonic Epilepsy, Juvenile4CTD_human;ORPHANET;UNIPROT