![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 11049 |
FusionGeneSummary for EFHC1_TMEM164 |
![]() |
Fusion gene information | Fusion gene name: EFHC1_TMEM164 | Fusion gene ID: 11049 | Hgene | Tgene | Gene symbol | EFHC1 | TMEM164 | Gene ID | 114327 | 84187 |
Gene name | EF-hand domain containing 1 | transmembrane protein 164 | |
Synonyms | EJM1|dJ304B14.2 | bB360B22.3 | |
Cytomap | 6p12.2 | Xq23 | |
Type of gene | protein-coding | protein-coding | |
Description | EF-hand domain-containing protein 1EF-hand domain (C-terminal) containing 1myoclonin-1 | transmembrane protein 164RP13-360B22.2 | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | Q5JVL4 | Q5U3C3 | |
Ensembl transtripts involved in fusion gene | ENST00000371068, ENST00000491749, ENST00000433625, ENST00000538167, | ENST00000372072, ENST00000372073, ENST00000372068, ENST00000288381, ENST00000464177, | |
Fusion gene scores | * DoF score | 9 X 9 X 4=324 | 1 X 1 X 1=1 |
# samples | 9 | 1 | |
** MAII score | log2(9/324*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: EFHC1 [Title/Abstract] AND TMEM164 [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) |
![]() |
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 | BC019032 | EFHC1 | chr6 | 52366492 | + | TMEM164 | chrX | 109419703 | + |
* 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-3UTR | ENST00000371068 | ENST00000372072 | EFHC1 | chr6 | 52366492 | + | TMEM164 | chrX | 109419703 | + |
intron-3UTR | ENST00000371068 | ENST00000372073 | EFHC1 | chr6 | 52366492 | + | TMEM164 | chrX | 109419703 | + |
intron-3UTR | ENST00000371068 | ENST00000372068 | EFHC1 | chr6 | 52366492 | + | TMEM164 | chrX | 109419703 | + |
intron-3UTR | ENST00000371068 | ENST00000288381 | EFHC1 | chr6 | 52366492 | + | TMEM164 | chrX | 109419703 | + |
intron-intron | ENST00000371068 | ENST00000464177 | EFHC1 | chr6 | 52366492 | + | TMEM164 | chrX | 109419703 | + |
intron-3UTR | ENST00000491749 | ENST00000372072 | EFHC1 | chr6 | 52366492 | + | TMEM164 | chrX | 109419703 | + |
intron-3UTR | ENST00000491749 | ENST00000372073 | EFHC1 | chr6 | 52366492 | + | TMEM164 | chrX | 109419703 | + |
intron-3UTR | ENST00000491749 | ENST00000372068 | EFHC1 | chr6 | 52366492 | + | TMEM164 | chrX | 109419703 | + |
intron-3UTR | ENST00000491749 | ENST00000288381 | EFHC1 | chr6 | 52366492 | + | TMEM164 | chrX | 109419703 | + |
intron-intron | ENST00000491749 | ENST00000464177 | EFHC1 | chr6 | 52366492 | + | TMEM164 | chrX | 109419703 | + |
intron-3UTR | ENST00000433625 | ENST00000372072 | EFHC1 | chr6 | 52366492 | + | TMEM164 | chrX | 109419703 | + |
intron-3UTR | ENST00000433625 | ENST00000372073 | EFHC1 | chr6 | 52366492 | + | TMEM164 | chrX | 109419703 | + |
intron-3UTR | ENST00000433625 | ENST00000372068 | EFHC1 | chr6 | 52366492 | + | TMEM164 | chrX | 109419703 | + |
intron-3UTR | ENST00000433625 | ENST00000288381 | EFHC1 | chr6 | 52366492 | + | TMEM164 | chrX | 109419703 | + |
intron-intron | ENST00000433625 | ENST00000464177 | EFHC1 | chr6 | 52366492 | + | TMEM164 | chrX | 109419703 | + |
intron-3UTR | ENST00000538167 | ENST00000372072 | EFHC1 | chr6 | 52366492 | + | TMEM164 | chrX | 109419703 | + |
intron-3UTR | ENST00000538167 | ENST00000372073 | EFHC1 | chr6 | 52366492 | + | TMEM164 | chrX | 109419703 | + |
intron-3UTR | ENST00000538167 | ENST00000372068 | EFHC1 | chr6 | 52366492 | + | TMEM164 | chrX | 109419703 | + |
intron-3UTR | ENST00000538167 | ENST00000288381 | EFHC1 | chr6 | 52366492 | + | TMEM164 | chrX | 109419703 | + |
intron-intron | ENST00000538167 | ENST00000464177 | EFHC1 | chr6 | 52366492 | + | TMEM164 | chrX | 109419703 | + |
Top |
FusionProtFeatures for EFHC1_TMEM164 |
![]() |
Hgene | Tgene |
EFHC1 | TMEM164 |
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}. |
![]() * 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 |
Top |
FusionGeneSequence for EFHC1_TMEM164 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for EFHC1_TMEM164 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for EFHC1_TMEM164 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for EFHC1_TMEM164 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | EFHC1 | C0270853 | Myoclonic Epilepsy, Juvenile | 4 | CTD_human;ORPHANET;UNIPROT |
Tgene | TMEM164 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |