FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 24435

FusionGeneSummary for NKX2-1_SLC25A21

check button Fusion gene summary
Fusion gene informationFusion gene name: NKX2-1_SLC25A21
Fusion gene ID: 24435
HgeneTgene
Gene symbol

NKX2-1

SLC25A21

Gene ID

7080

89874

Gene nameNK2 homeobox 1solute carrier family 25 member 21
SynonymsBCH|BHC|NK-2|NKX2.1|NKX2A|NMTC1|T/EBP|TEBP|TITF1|TTF-1|TTF1ODC|ODC1
Cytomap

14q13.3

14q13.3

Type of geneprotein-codingprotein-coding
Descriptionhomeobox protein Nkx-2.1NK-2 homolog Ahomeobox protein NK-2 homolog Athyroid nuclear factor 1thyroid transcription factor 1thyroid-specific enhancer-binding proteinmitochondrial 2-oxodicarboxylate carrieroxodicarboxylate carriersolute carrier family 25 (mitochondrial oxoadipate carrier), member 21solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21
Modification date2018051920180523
UniProtAcc

P43699

Q9BQT8

Ensembl transtripts involved in fusion geneENST00000354822, ENST00000498187, 
ENST00000518149, ENST00000522719, 
ENST00000555449, ENST00000331299, 
ENST00000557611, 
Fusion gene scores* DoF score1 X 1 X 1=18 X 4 X 6=192
# samples 19
** MAII scorelog2(1/1*10)=3.32192809488736log2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneNKX2-1

GO:0000122

negative regulation of transcription by RNA polymerase II

23143308

HgeneNKX2-1

GO:0010628

positive regulation of gene expression

16960125

HgeneNKX2-1

GO:0010719

negative regulation of epithelial to mesenchymal transition

19293183

HgeneNKX2-1

GO:0030336

negative regulation of cell migration

19293183

HgeneNKX2-1

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

19293183

HgeneNKX2-1

GO:0045893

positive regulation of transcription, DNA-templated

14960358

HgeneNKX2-1

GO:0045944

positive regulation of transcription by RNA polymerase II

7559607|7713914|16960125


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLUSCTCGA-39-5034-01ANKX2-1chr14

36988190

-SLC25A21chr14

37153085

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shitENST00000354822ENST00000555449NKX2-1chr14

36988190

-SLC25A21chr14

37153085

-
Frame-shitENST00000354822ENST00000331299NKX2-1chr14

36988190

-SLC25A21chr14

37153085

-
5CDS-intronENST00000354822ENST00000557611NKX2-1chr14

36988190

-SLC25A21chr14

37153085

-
Frame-shitENST00000498187ENST00000555449NKX2-1chr14

36988190

-SLC25A21chr14

37153085

-
Frame-shitENST00000498187ENST00000331299NKX2-1chr14

36988190

-SLC25A21chr14

37153085

-
5CDS-intronENST00000498187ENST00000557611NKX2-1chr14

36988190

-SLC25A21chr14

37153085

-
Frame-shitENST00000518149ENST00000555449NKX2-1chr14

36988190

-SLC25A21chr14

37153085

-
Frame-shitENST00000518149ENST00000331299NKX2-1chr14

36988190

-SLC25A21chr14

37153085

-
5CDS-intronENST00000518149ENST00000557611NKX2-1chr14

36988190

-SLC25A21chr14

37153085

-
Frame-shitENST00000522719ENST00000555449NKX2-1chr14

36988190

-SLC25A21chr14

37153085

-
Frame-shitENST00000522719ENST00000331299NKX2-1chr14

36988190

-SLC25A21chr14

37153085

-
5CDS-intronENST00000522719ENST00000557611NKX2-1chr14

36988190

-SLC25A21chr14

37153085

-

Top

FusionProtFeatures for NKX2-1_SLC25A21


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NKX2-1

P43699

SLC25A21

Q9BQT8

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.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


Top

FusionGeneSequence for NKX2-1_SLC25A21


check button 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).

Top

FusionGenePPI for NKX2-1_SLC25A21


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
NKX2-1RARA, NCOA2, HIPK2, PTRF, NCOA3, CREBBP, RELA, PAX8, CALR, NCOA1, HOXB5SLC25A21FBXO6, TBX20, NOSIP, DNASE1L2, PPIE


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

RelatedDrugs for NKX2-1_SLC25A21


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for NKX2-1_SLC25A21


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNKX2-1C0019284Diaphragmatic Hernia2CTD_human
HgeneNKX2-1C0393584Benign Hereditary Chorea2ORPHANET;UNIPROT
HgeneNKX2-1C1970269Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress2CTD_human;ORPHANET;UNIPROT
HgeneNKX2-1C0024115Lung diseases1CTD_human
HgeneNKX2-1C0238463Papillary thyroid carcinoma1ORPHANET;UNIPROT