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Fusion gene ID: 19633 |
FusionGeneSummary for LETM1_NELFA |
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Fusion gene information | Fusion gene name: LETM1_NELFA | Fusion gene ID: 19633 | Hgene | Tgene | Gene symbol | LETM1 | NELFA | Gene ID | 3954 | 7469 |
Gene name | leucine zipper and EF-hand containing transmembrane protein 1 | negative elongation factor complex member A | |
Synonyms | SLC55A1 | NELF-A|P/OKcl.15|WHSC2 | |
Cytomap | 4p16.3 | 4p16.3 | |
Type of gene | protein-coding | protein-coding | |
Description | mitochondrial proton/calcium exchanger proteinLETM1 and EF-hand domain-containing protein 1, mitochondrialMdm38 homologleucine zipper-EF-hand containing transmembrane protein 1 | negative elongation factor Awolf-Hirschhorn syndrome candidate 2 protein | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | O95202 | Q9H3P2 | |
Ensembl transtripts involved in fusion gene | ENST00000302787, ENST00000512189, | ENST00000382882, ENST00000411638, ENST00000542778, | |
Fusion gene scores | * DoF score | 5 X 5 X 4=100 | 1 X 1 X 1=1 |
# samples | 6 | 1 | |
** MAII score | log2(6/100*10)=-0.736965594166206 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: LETM1 [Title/Abstract] AND NELFA [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 |
Hgene | LETM1 | GO:0006851 | mitochondrial calcium ion transmembrane transport | 19797662 |
Hgene | LETM1 | GO:0051560 | mitochondrial calcium ion homeostasis | 19797662 |
Hgene | LETM1 | GO:0099093 | calcium export from the mitochondrion | 19797662 |
![]() (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 | UCEC | TCGA-PG-A914-01A | LETM1 | chr4 | 1823908 | - | NELFA | chr4 | 2025263 | - |
* 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 |
5CDS-intron | ENST00000302787 | ENST00000382882 | LETM1 | chr4 | 1823908 | - | NELFA | chr4 | 2025263 | - |
5CDS-intron | ENST00000302787 | ENST00000411638 | LETM1 | chr4 | 1823908 | - | NELFA | chr4 | 2025263 | - |
5CDS-intron | ENST00000302787 | ENST00000542778 | LETM1 | chr4 | 1823908 | - | NELFA | chr4 | 2025263 | - |
intron-intron | ENST00000512189 | ENST00000382882 | LETM1 | chr4 | 1823908 | - | NELFA | chr4 | 2025263 | - |
intron-intron | ENST00000512189 | ENST00000411638 | LETM1 | chr4 | 1823908 | - | NELFA | chr4 | 2025263 | - |
intron-intron | ENST00000512189 | ENST00000542778 | LETM1 | chr4 | 1823908 | - | NELFA | chr4 | 2025263 | - |
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FusionProtFeatures for LETM1_NELFA |
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Hgene | Tgene |
LETM1 | NELFA |
Mitochondrial proton/calcium antiporter that mediatesproton-dependent calcium efflux from mitochondrion(PubMed:19797662). Crucial for the maintenance of mitochondrialtubular networks and for the assembly of the supercomplexes of therespiratory chain (PubMed:18628306). Required for the maintenanceof the tubular shape and cristae organization (PubMed:18628306).In contrast to SLC8B1/NCLX, does not constitute the major factorfor mitochondrial calcium extrusion (PubMed:24898248).{ECO:0000269|PubMed:18628306, ECO:0000269|PubMed:19797662,ECO:0000269|PubMed:24898248}. | Essential component of the NELF complex, a complex thatnegatively regulates the elongation of transcription by RNApolymerase II. The NELF complex, which acts via an associationwith the DSIF complex and causes transcriptional pausing, iscounteracted by the P-TEFb kinase complex. The NELF complex isinvolved in HIV-1 latency possibly involving recruitment of PCF11to paused RNA polymerase II. In vitro, the NELFA:NELFCD subcomplexbinds to ssDNA and ssRNA in a sequence- and structure-dependentmanner. Probably required to interact with the RNA polymerase IIcomplex. {ECO:0000269|PubMed:10199401,ECO:0000269|PubMed:12563561, ECO:0000269|PubMed:12612062,ECO:0000305}. |
![]() * 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 LETM1_NELFA |
![]() (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 LETM1_NELFA |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
LETM1 | ICT1, TBK1, ILF3, C12orf57, SYNCRIP, LATS2, PSMA3, CYP1A1, NTRK1, NDUFA4, COQ9, PTPMT1, C15orf48, PPM1A, USP47, SNRNP27, PCDHGB4, HSD3B2, FGB, MRPS11, LYPD4, RNF19B, ATP6V0D1 | NELFA | NELFE, NELFB, NELFCD, POLR2A, TCEA2, ATP1A1, APP, POLR2C, YWHAB, HECW2, SIAH1, PRR22, NXF1, NTRK1, POLR2B, SUPT5H, NCBP1, ATL2, INTS12, WIBG, FEZ1, PROSER2, MCM9, IGHMBP2, TMOD4 |
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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 LETM1_NELFA |
![]() (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 LETM1_NELFA |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | LETM1 | C0026827 | Muscle hypotonia | 1 | CTD_human;HPO |
Hgene | LETM1 | C0036572 | Seizures | 1 | CTD_human;HPO |
Hgene | LETM1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Hgene | LETM1 | C1956097 | Wolf-Hirschhorn Syndrome | 1 | CTD_human;ORPHANET |
Hgene | LETM1 | C2239176 | Liver carcinoma | 1 | CTD_human |
Hgene | LETM1 | C3714756 | Intellectual Disability | 1 | CTD_human |