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Fusion gene ID: 21941 |
FusionGeneSummary for MIEF1_TAB1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: MIEF1_TAB1 | Fusion gene ID: 21941 | Hgene | Tgene | Gene symbol | MIEF1 | TAB1 | Gene ID | 54471 | 10454 |
Gene name | mitochondrial elongation factor 1 | TGF-beta activated kinase 1 (MAP3K7) binding protein 1 | |
Synonyms | HSU79252|MID51|SMCR7L|dJ1104E15.3 | 3'-Tab1|MAP3K7IP1 | |
Cytomap | 22q13.1 | 22q13.1 | |
Type of gene | protein-coding | protein-coding | |
Description | mitochondrial dynamics protein MID51SMCR7-like proteinSmith-Magenis syndrome chromosome region, candidate 7-likemitochondrial dynamic protein MID51mitochondrial dynamic protein of 51 kDamitochondrial dynamics protein of 51 kDasmith-Magenis syndrome | TGF-beta-activated kinase 1 and MAP3K7-binding protein 1TAK1-binding protein 1mitogen-activated protein kinase kinase kinase 7-interacting protein 1transforming growth factor beta-activated kinase-binding protein 1 | |
Modification date | 20180519 | 20180522 | |
UniProtAcc | Q9NQG6 | Q15750 | |
Ensembl transtripts involved in fusion gene | ENST00000402881, ENST00000478342, ENST00000325301, ENST00000404569, | ENST00000216160, ENST00000331454, ENST00000488859, | |
Fusion gene scores | * DoF score | 2 X 2 X 3=12 | 4 X 3 X 4=48 |
# samples | 3 | 5 | |
** MAII score | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/48*10)=0.0588936890535686 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: MIEF1 [Title/Abstract] AND TAB1 [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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | MIEF1 | GO:0090141 | positive regulation of mitochondrial fission | 23283981|23530241 |
Hgene | MIEF1 | GO:0090314 | positive regulation of protein targeting to membrane | 23283981 |
Hgene | MIEF1 | GO:0090314 | positive regulation of protein targeting to membrane | 23921378 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | OV | TCGA-31-1946-01A | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39832495 | + |
TCGA | LD | STAD | TCGA-VQ-A92D-01A | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39822708 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5UTR-intron | ENST00000402881 | ENST00000216160 | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39832495 | + |
5UTR-intron | ENST00000402881 | ENST00000331454 | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39832495 | + |
5UTR-3UTR | ENST00000402881 | ENST00000488859 | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39832495 | + |
5CDS-intron | ENST00000478342 | ENST00000216160 | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39832495 | + |
5CDS-intron | ENST00000478342 | ENST00000331454 | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39832495 | + |
5CDS-3UTR | ENST00000478342 | ENST00000488859 | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39832495 | + |
5UTR-intron | ENST00000325301 | ENST00000216160 | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39832495 | + |
5UTR-intron | ENST00000325301 | ENST00000331454 | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39832495 | + |
5UTR-3UTR | ENST00000325301 | ENST00000488859 | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39832495 | + |
5UTR-intron | ENST00000404569 | ENST00000216160 | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39832495 | + |
5UTR-intron | ENST00000404569 | ENST00000331454 | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39832495 | + |
5UTR-3UTR | ENST00000404569 | ENST00000488859 | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39832495 | + |
5UTR-3CDS | ENST00000402881 | ENST00000216160 | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39822708 | + |
5UTR-3CDS | ENST00000402881 | ENST00000331454 | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39822708 | + |
5UTR-intron | ENST00000402881 | ENST00000488859 | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39822708 | + |
Frame-shift | ENST00000478342 | ENST00000216160 | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39822708 | + |
Frame-shift | ENST00000478342 | ENST00000331454 | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39822708 | + |
5CDS-intron | ENST00000478342 | ENST00000488859 | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39822708 | + |
5UTR-3CDS | ENST00000325301 | ENST00000216160 | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39822708 | + |
5UTR-3CDS | ENST00000325301 | ENST00000331454 | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39822708 | + |
5UTR-intron | ENST00000325301 | ENST00000488859 | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39822708 | + |
5UTR-3CDS | ENST00000404569 | ENST00000216160 | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39822708 | + |
5UTR-3CDS | ENST00000404569 | ENST00000331454 | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39822708 | + |
5UTR-intron | ENST00000404569 | ENST00000488859 | MIEF1 | chr22 | 39900539 | + | TAB1 | chr22 | 39822708 | + |
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FusionProtFeatures for MIEF1_TAB1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
MIEF1 | TAB1 |
Mitochondrial outer membrane protein which regulatesmitochondrial fission. Promotes the recruitment and association ofthe fission mediator dynamin-related protein 1 (DNM1L) to themitochondrial surface independently of the mitochondrial fissionFIS1 and MFF proteins. Regulates DNM1L GTPase activity and DNM1Loligomerization. Binds ADP and can also bind GDP, although withlower affinity. Does not bind CDP, UDP, ATP, AMP or GTP. InhibitsDNM1L GTPase activity in the absence of bound ADP. Requires ADP tostimulate DNM1L GTPase activity and the assembly of DNM1L intolong, oligomeric tubules with a spiral pattern, as opposed to thering-like DNM1L oligomers observed in the absence of bound ADP.Does not require ADP for its function in recruiting DNM1L.{ECO:0000269|PubMed:21508961, ECO:0000269|PubMed:21701560,ECO:0000269|PubMed:23283981, ECO:0000269|PubMed:23530241,ECO:0000269|PubMed:23921378, ECO:0000269|PubMed:24515348}. | May be an important signaling intermediate between TGFBreceptors and MAP3K7/TAK1. May play an important role in mammalianembryogenesis. |
Retention 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 . * 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 MIEF1_TAB1 |
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 MIEF1_TAB1 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
MIEF1 | MAGEA1, YWHAG, MIEF1, DNM1L, FIS1, UBQLN1, AGTRAP, MAB21L2, WDFY2, CDC42, ZNFX1, MAOA | TAB1 | TAB2, TRAF2, MAP3K7, TAB3, SMAD7, XIAP, SMAD6, MAPK14, ZMYND11, TRAF6, TNF, AGO3, RIPK2, MORF4L1, MORF4L2, MTG2, PHACTR3, C9orf78, CARD11, PDCD6IP, CASP6, PPP1R7, GIT1, XPO7, NXPH3, URB1, PHC2, POLR3D, RPL10, ACAP3, SERPINA4, CKB, CFL1, DBN1, MICAL1, KIFC2, MON1A, LAP3, ASRGL1, RBX1, MAPKAPK5, POLDIP2, FADD, LCMT1, PTPMT1, EPRS, C2orf44, HNRNPR, ARAP1, RPLP1, SNRNP35, TSSC4, TRPC4AP, PRKAR1A, ARRB2, NR2C2, OGT, GRK5, EGFR, IKBKB, NOTCH1, BST2, HSP90AA1, MAPK12, MAPK8IP1, GRB2, BIRC3, NPM1, TRIP6, CDK5RAP3, WTAP, PPP2CB, PPP2R1A, FN1, CORO1A, SLMAP, MDM2, TIRAP, BAG2, MAGED1, NAIP, BIRC7, SHMT2, MOV10, NXF1, IKBKG, MAP3K1, C11orf70, MAMDC2, RFPL4B, CARD8, PRMT2, C9orf41, TMEM52B, SSX2IP, CNTROB, XPO1, HSPA1L, MAPK11, ITCH, ALKBH3, MCM2, USP18, F2R, SMURF1, MTMR8, EMILIN1, SYNC, AARSD1, SERPINB2, SCRN1, CCDC102B, MANSC1, PCDH20, TBL1Y, HSPA8, CYB5A, GANAB, HSPBP1, TH, PCDHGB4, PSMC3, KLHL10, CCL22, C6orf141, CRYBB3, UBC, AATK, ERBB4, ROR2, CYLD, PARK7, SOD1 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for MIEF1_TAB1 |
Drugs targeting genes involved in this fusion gene. (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 MIEF1_TAB1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | TAB1 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |