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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 24436

FusionGeneSummary for NKX3-1_SEC63

check button Fusion gene summary
Fusion gene informationFusion gene name: NKX3-1_SEC63
Fusion gene ID: 24436
HgeneTgene
Gene symbol

NKX3-1

SEC63

Gene ID

4824

11231

Gene nameNK3 homeobox 1SEC63 homolog, protein translocation regulator
SynonymsBAPX2|NKX3|NKX3.1|NKX3ADNAJC23|ERdj2|PCLD2|PRO2507|SEC63L
Cytomap

8p21.2

6q21

Type of geneprotein-codingprotein-coding
Descriptionhomeobox protein Nkx-3.1NK homeobox, family 3, ANK3 transcription factor homolog ANK3 transcription factor related, locus 1homeobox protein NK-3 homolog Atranslocation protein SEC63 homologSEC63 protein translocation regulatorSEC63-like protein
Modification date2018052720180523
UniProtAcc

Q99801

Q9UGP8

Ensembl transtripts involved in fusion geneENST00000380871, ENST00000523261, 
ENST00000369002, ENST00000460009, 
Fusion gene scores* DoF score2 X 2 X 2=830 X 6 X 14=2520
# samples 233
** MAII scorelog2(2/8*10)=1.32192809488736log2(33/2520*10)=-2.93288580414146
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NKX3-1 [Title/Abstract] AND SEC63 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
HgeneNKX3-1

GO:0001934

positive regulation of protein phosphorylation

20395202

HgeneNKX3-1

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

17486276|19266349

HgeneNKX3-1

GO:0008285

negative regulation of cell proliferation

17486276|19266349

HgeneNKX3-1

GO:0010628

positive regulation of gene expression

17486276|20599703

HgeneNKX3-1

GO:0010629

negative regulation of gene expression

17486276

HgeneNKX3-1

GO:0010942

positive regulation of cell death

19266349

HgeneNKX3-1

GO:0014068

positive regulation of phosphatidylinositol 3-kinase signaling

20395202

HgeneNKX3-1

GO:0030521

androgen receptor signaling pathway

19886863

HgeneNKX3-1

GO:0043280

positive regulation of cysteine-type endopeptidase activity involved in apoptotic process

20599703

HgeneNKX3-1

GO:0045892

negative regulation of transcription, DNA-templated

18794125|19597465

HgeneNKX3-1

GO:0045930

negative regulation of mitotic cell cycle

19266349

HgeneNKX3-1

GO:0045944

positive regulation of transcription by RNA polymerase II

19797053|20855495

HgeneNKX3-1

GO:0071383

cellular response to steroid hormone stimulus

19886863

HgeneNKX3-1

GO:0071456

cellular response to hypoxia

21056661

HgeneNKX3-1

GO:0071850

mitotic cell cycle arrest

19266349

HgeneNKX3-1

GO:0071899

negative regulation of estrogen receptor binding

18794125

HgeneNKX3-1

GO:2000836

positive regulation of androgen secretion

19886863

HgeneNKX3-1

GO:2001022

positive regulation of response to DNA damage stimulus

20395202

HgeneNKX3-1

GO:2001235

positive regulation of apoptotic signaling pathway

20599703

HgeneNKX3-1

GO:2001244

positive regulation of intrinsic apoptotic signaling pathway

17486276


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
TCGARVPRADTCGA-EJ-5519-01ANKX3-1chr8

23536206

-SEC63chr6

108214782

-
* 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-shitENST00000380871ENST00000369002NKX3-1chr8

23536206

-SEC63chr6

108214782

-
5CDS-intronENST00000380871ENST00000460009NKX3-1chr8

23536206

-SEC63chr6

108214782

-
intron-3CDSENST00000523261ENST00000369002NKX3-1chr8

23536206

-SEC63chr6

108214782

-
intron-intronENST00000523261ENST00000460009NKX3-1chr8

23536206

-SEC63chr6

108214782

-

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FusionProtFeatures for NKX3-1_SEC63


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NKX3-1

Q99801

SEC63

Q9UGP8

Transcription factor, which binds preferentially theconsensus sequence 5'-TAAGT[AG]-3' and can behave as atranscriptional repressor. Plays an important role in normalprostate development, regulating proliferation of glandularepithelium and in the formation of ducts in prostate. Acts as atumor suppressor controlling prostate carcinogenesis, as shown bythe ability to inhibit proliferation and invasion activities ofPC-3 prostate cancer cells. {ECO:0000269|PubMed:19462257}. Required for integral membrane and secreted preproteintranslocation across the endoplasmic reticulum membrane.

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


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FusionGeneSequence for NKX3-1_SEC63


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).

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FusionGenePPI for NKX3-1_SEC63


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
NKX3-1SPDEF, SRF, HDAC1, SP1, SP2, SP3, SP4, SP5, KAT2B, TOPORS, WDR77, TOP1, HNRNPA0, MNAT1, AEN, LMCD1, TEX264, CCT7, RPL37A, FEM1B, CHPF, CKAP4, RABL6, MAN2B1, ND4, HMG20B, PEBP1, PTMS, STRA13, RARG, RPSA, STMN3, HSP90B1, TPT1, FAM136ASEC63GSTK1, IRF1, PMF1, SPA17, GPR183, RFX3, GPRC5D, SKAP1, ACADM, RPS5, ABCC1, DDOST, KPNA4, SEC61A1, NTRK1, TP53, OFD1, TCTN2, TCTN3, NPHP1, RPGRIP1L, EVC2, TCTN1, TMEM17, TMEM216, HSPA5, SENP3, CDKN3, YIPF3, HTR2C, ARFGAP1, BIN3, GPRC5B, TPTE, NR3C1, TRIM25


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


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RelatedDrugs for NKX3-1_SEC63


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

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RelatedDiseases for NKX3-1_SEC63


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNKX3-1C0033578Prostatic Neoplasms4CTD_human
TgeneSEC63C0022680Polycystic Kidney Diseases1CTD_human
TgeneSEC63C0158683Polycystic liver disease1CTD_human;HPO;ORPHANET