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Fusion gene ID: 24435 |
FusionGeneSummary for NKX2-1_SLC25A21 |
Fusion gene summary |
Fusion gene information | Fusion gene name: NKX2-1_SLC25A21 | Fusion gene ID: 24435 | Hgene | Tgene | Gene symbol | NKX2-1 | SLC25A21 | Gene ID | 7080 | 89874 |
Gene name | NK2 homeobox 1 | solute carrier family 25 member 21 | |
Synonyms | BCH|BHC|NK-2|NKX2.1|NKX2A|NMTC1|T/EBP|TEBP|TITF1|TTF-1|TTF1 | ODC|ODC1 | |
Cytomap | 14q13.3 | 14q13.3 | |
Type of gene | protein-coding | protein-coding | |
Description | homeobox protein Nkx-2.1NK-2 homolog Ahomeobox protein NK-2 homolog Athyroid nuclear factor 1thyroid transcription factor 1thyroid-specific enhancer-binding protein | mitochondrial 2-oxodicarboxylate carrieroxodicarboxylate carriersolute carrier family 25 (mitochondrial oxoadipate carrier), member 21solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | P43699 | Q9BQT8 | |
Ensembl transtripts involved in fusion gene | ENST00000354822, ENST00000498187, ENST00000518149, ENST00000522719, | ENST00000555449, ENST00000331299, ENST00000557611, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 8 X 4 X 6=192 |
# samples | 1 | 9 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(9/192*10)=-1.09310940439148 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: NKX2-1 [Title/Abstract] AND SLC25A21 [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 | NKX2-1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 23143308 |
Hgene | NKX2-1 | GO:0010628 | positive regulation of gene expression | 16960125 |
Hgene | NKX2-1 | GO:0010719 | negative regulation of epithelial to mesenchymal transition | 19293183 |
Hgene | NKX2-1 | GO:0030336 | negative regulation of cell migration | 19293183 |
Hgene | NKX2-1 | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 19293183 |
Hgene | NKX2-1 | GO:0045893 | positive regulation of transcription, DNA-templated | 14960358 |
Hgene | NKX2-1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 7559607|7713914|16960125 |
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 | RV | LUSC | TCGA-39-5034-01A | NKX2-1 | chr14 | 36988190 | - | SLC25A21 | chr14 | 37153085 | - |
* 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 |
Frame-shift | ENST00000354822 | ENST00000555449 | NKX2-1 | chr14 | 36988190 | - | SLC25A21 | chr14 | 37153085 | - |
Frame-shift | ENST00000354822 | ENST00000331299 | NKX2-1 | chr14 | 36988190 | - | SLC25A21 | chr14 | 37153085 | - |
5CDS-intron | ENST00000354822 | ENST00000557611 | NKX2-1 | chr14 | 36988190 | - | SLC25A21 | chr14 | 37153085 | - |
Frame-shift | ENST00000498187 | ENST00000555449 | NKX2-1 | chr14 | 36988190 | - | SLC25A21 | chr14 | 37153085 | - |
Frame-shift | ENST00000498187 | ENST00000331299 | NKX2-1 | chr14 | 36988190 | - | SLC25A21 | chr14 | 37153085 | - |
5CDS-intron | ENST00000498187 | ENST00000557611 | NKX2-1 | chr14 | 36988190 | - | SLC25A21 | chr14 | 37153085 | - |
Frame-shift | ENST00000518149 | ENST00000555449 | NKX2-1 | chr14 | 36988190 | - | SLC25A21 | chr14 | 37153085 | - |
Frame-shift | ENST00000518149 | ENST00000331299 | NKX2-1 | chr14 | 36988190 | - | SLC25A21 | chr14 | 37153085 | - |
5CDS-intron | ENST00000518149 | ENST00000557611 | NKX2-1 | chr14 | 36988190 | - | SLC25A21 | chr14 | 37153085 | - |
Frame-shift | ENST00000522719 | ENST00000555449 | NKX2-1 | chr14 | 36988190 | - | SLC25A21 | chr14 | 37153085 | - |
Frame-shift | ENST00000522719 | ENST00000331299 | NKX2-1 | chr14 | 36988190 | - | SLC25A21 | chr14 | 37153085 | - |
5CDS-intron | ENST00000522719 | ENST00000557611 | NKX2-1 | chr14 | 36988190 | - | SLC25A21 | chr14 | 37153085 | - |
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FusionProtFeatures for NKX2-1_SLC25A21 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
NKX2-1 | SLC25A21 |
Transcription factor that binds and activates thepromoter of thyroid specific genes such as thyroglobulin,thyroperoxidase, and thyrotropin receptor. Crucial in themaintenance of the thyroid differentiation phenotype. May play arole in lung development and surfactant homeostasis. Forms aregulatory loop with GRHL2 that coordinates lung epithelial cellmorphogenesis and differentiation. Activates the transcription ofGNRHR and plays a role in enhancing the circadian oscillation ofits gene expression. Represses the transcription of the circadiantranscriptional repressor NR1D1 (By similarity).{ECO:0000250|UniProtKB:P23441, ECO:0000250|UniProtKB:P50220}. | Transports C5-C7 oxodicarboxylates across the innermembranes of mitochondria. Can transport 2-oxoadipate, 2-oxoglutarate, adipate, glutarate, and to a lesser extent,pimelate, 2-oxopimelate, 2-aminoadipate, oxaloacetate, andcitrate. |
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 NKX2-1_SLC25A21 |
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 NKX2-1_SLC25A21 |
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 |
NKX2-1 | RARA, NCOA2, HIPK2, PTRF, NCOA3, CREBBP, RELA, PAX8, CALR, NCOA1, HOXB5 | SLC25A21 | FBXO6, TBX20, NOSIP, DNASE1L2, PPIE |
- 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 NKX2-1_SLC25A21 |
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 NKX2-1_SLC25A21 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | NKX2-1 | C0019284 | Diaphragmatic Hernia | 2 | CTD_human |
Hgene | NKX2-1 | C0393584 | Benign Hereditary Chorea | 2 | ORPHANET;UNIPROT |
Hgene | NKX2-1 | C1970269 | Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress | 2 | CTD_human;ORPHANET;UNIPROT |
Hgene | NKX2-1 | C0024115 | Lung diseases | 1 | CTD_human |
Hgene | NKX2-1 | C0238463 | Papillary thyroid carcinoma | 1 | ORPHANET;UNIPROT |