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Fusion gene ID: 11048 |
FusionGeneSummary for EFHC1_TCEAL4 |
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Fusion gene information | Fusion gene name: EFHC1_TCEAL4 | Fusion gene ID: 11048 | Hgene | Tgene | Gene symbol | EFHC1 | TCEAL4 | Gene ID | 114327 | 79921 |
Gene name | EF-hand domain containing 1 | transcription elongation factor A like 4 | |
Synonyms | EJM1|dJ304B14.2 | NPD017|WEX7 | |
Cytomap | 6p12.2 | Xq22.2 | |
Type of gene | protein-coding | protein-coding | |
Description | EF-hand domain-containing protein 1EF-hand domain (C-terminal) containing 1myoclonin-1 | transcription elongation factor A protein-like 4TCEA-like protein 4transcription elongation factor A (SII)-like 4transcription elongation factor S-II protein-like 4 | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q5JVL4 | Q96EI5 | |
Ensembl transtripts involved in fusion gene | ENST00000371068, ENST00000491749, ENST00000433625, ENST00000538167, | ENST00000372629, ENST00000468024, ENST00000472484, ENST00000415568, ENST00000472745, ENST00000494801, | |
Fusion gene scores | * DoF score | 9 X 9 X 4=324 | 2 X 2 X 1=4 |
# samples | 9 | 2 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BE700058 | EFHC1 | chr6 | 52367821 | - | TCEAL4 | chrX | 102841697 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-3CDS | ENST00000371068 | ENST00000372629 | EFHC1 | chr6 | 52367821 | - | TCEAL4 | chrX | 102841697 | - |
intron-3CDS | ENST00000371068 | ENST00000468024 | EFHC1 | chr6 | 52367821 | - | TCEAL4 | chrX | 102841697 | - |
intron-3CDS | ENST00000371068 | ENST00000472484 | EFHC1 | chr6 | 52367821 | - | TCEAL4 | chrX | 102841697 | - |
intron-3CDS | ENST00000371068 | ENST00000415568 | EFHC1 | chr6 | 52367821 | - | TCEAL4 | chrX | 102841697 | - |
intron-3CDS | ENST00000371068 | ENST00000472745 | EFHC1 | chr6 | 52367821 | - | TCEAL4 | chrX | 102841697 | - |
intron-3CDS | ENST00000371068 | ENST00000494801 | EFHC1 | chr6 | 52367821 | - | TCEAL4 | chrX | 102841697 | - |
intron-3CDS | ENST00000491749 | ENST00000372629 | EFHC1 | chr6 | 52367821 | - | TCEAL4 | chrX | 102841697 | - |
intron-3CDS | ENST00000491749 | ENST00000468024 | EFHC1 | chr6 | 52367821 | - | TCEAL4 | chrX | 102841697 | - |
intron-3CDS | ENST00000491749 | ENST00000472484 | EFHC1 | chr6 | 52367821 | - | TCEAL4 | chrX | 102841697 | - |
intron-3CDS | ENST00000491749 | ENST00000415568 | EFHC1 | chr6 | 52367821 | - | TCEAL4 | chrX | 102841697 | - |
intron-3CDS | ENST00000491749 | ENST00000472745 | EFHC1 | chr6 | 52367821 | - | TCEAL4 | chrX | 102841697 | - |
intron-3CDS | ENST00000491749 | ENST00000494801 | EFHC1 | chr6 | 52367821 | - | TCEAL4 | chrX | 102841697 | - |
intron-3CDS | ENST00000433625 | ENST00000372629 | EFHC1 | chr6 | 52367821 | - | TCEAL4 | chrX | 102841697 | - |
intron-3CDS | ENST00000433625 | ENST00000468024 | EFHC1 | chr6 | 52367821 | - | TCEAL4 | chrX | 102841697 | - |
intron-3CDS | ENST00000433625 | ENST00000472484 | EFHC1 | chr6 | 52367821 | - | TCEAL4 | chrX | 102841697 | - |
intron-3CDS | ENST00000433625 | ENST00000415568 | EFHC1 | chr6 | 52367821 | - | TCEAL4 | chrX | 102841697 | - |
intron-3CDS | ENST00000433625 | ENST00000472745 | EFHC1 | chr6 | 52367821 | - | TCEAL4 | chrX | 102841697 | - |
intron-3CDS | ENST00000433625 | ENST00000494801 | EFHC1 | chr6 | 52367821 | - | TCEAL4 | chrX | 102841697 | - |
intron-3CDS | ENST00000538167 | ENST00000372629 | EFHC1 | chr6 | 52367821 | - | TCEAL4 | chrX | 102841697 | - |
intron-3CDS | ENST00000538167 | ENST00000468024 | EFHC1 | chr6 | 52367821 | - | TCEAL4 | chrX | 102841697 | - |
intron-3CDS | ENST00000538167 | ENST00000472484 | EFHC1 | chr6 | 52367821 | - | TCEAL4 | chrX | 102841697 | - |
intron-3CDS | ENST00000538167 | ENST00000415568 | EFHC1 | chr6 | 52367821 | - | TCEAL4 | chrX | 102841697 | - |
intron-3CDS | ENST00000538167 | ENST00000472745 | EFHC1 | chr6 | 52367821 | - | TCEAL4 | chrX | 102841697 | - |
intron-3CDS | ENST00000538167 | ENST00000494801 | EFHC1 | chr6 | 52367821 | - | TCEAL4 | chrX | 102841697 | - |
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FusionProtFeatures for EFHC1_TCEAL4 |
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Hgene | Tgene |
EFHC1 | TCEAL4 |
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. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for EFHC1_TCEAL4 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for EFHC1_TCEAL4 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for EFHC1_TCEAL4 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | EFHC1 | C0270853 | Myoclonic Epilepsy, Juvenile | 4 | CTD_human;ORPHANET;UNIPROT |