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Fusion gene ID: 24436 |
FusionGeneSummary for NKX3-1_SEC63 |
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Fusion gene information | Fusion gene name: NKX3-1_SEC63 | Fusion gene ID: 24436 | Hgene | Tgene | Gene symbol | NKX3-1 | SEC63 | Gene ID | 4824 | 11231 |
Gene name | NK3 homeobox 1 | SEC63 homolog, protein translocation regulator | |
Synonyms | BAPX2|NKX3|NKX3.1|NKX3A | DNAJC23|ERdj2|PCLD2|PRO2507|SEC63L | |
Cytomap | 8p21.2 | 6q21 | |
Type of gene | protein-coding | protein-coding | |
Description | homeobox protein Nkx-3.1NK homeobox, family 3, ANK3 transcription factor homolog ANK3 transcription factor related, locus 1homeobox protein NK-3 homolog A | translocation protein SEC63 homologSEC63 protein translocation regulatorSEC63-like protein | |
Modification date | 20180527 | 20180523 | |
UniProtAcc | Q99801 | Q9UGP8 | |
Ensembl transtripts involved in fusion gene | ENST00000380871, ENST00000523261, | ENST00000369002, ENST00000460009, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 30 X 6 X 14=2520 |
# samples | 2 | 33 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(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 annotation | Tumor 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | NKX3-1 | GO:0001934 | positive regulation of protein phosphorylation | 20395202 |
Hgene | NKX3-1 | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 17486276|19266349 |
Hgene | NKX3-1 | GO:0008285 | negative regulation of cell proliferation | 17486276|19266349 |
Hgene | NKX3-1 | GO:0010628 | positive regulation of gene expression | 17486276|20599703 |
Hgene | NKX3-1 | GO:0010629 | negative regulation of gene expression | 17486276 |
Hgene | NKX3-1 | GO:0010942 | positive regulation of cell death | 19266349 |
Hgene | NKX3-1 | GO:0014068 | positive regulation of phosphatidylinositol 3-kinase signaling | 20395202 |
Hgene | NKX3-1 | GO:0030521 | androgen receptor signaling pathway | 19886863 |
Hgene | NKX3-1 | GO:0043280 | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 20599703 |
Hgene | NKX3-1 | GO:0045892 | negative regulation of transcription, DNA-templated | 18794125|19597465 |
Hgene | NKX3-1 | GO:0045930 | negative regulation of mitotic cell cycle | 19266349 |
Hgene | NKX3-1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 19797053|20855495 |
Hgene | NKX3-1 | GO:0071383 | cellular response to steroid hormone stimulus | 19886863 |
Hgene | NKX3-1 | GO:0071456 | cellular response to hypoxia | 21056661 |
Hgene | NKX3-1 | GO:0071850 | mitotic cell cycle arrest | 19266349 |
Hgene | NKX3-1 | GO:0071899 | negative regulation of estrogen receptor binding | 18794125 |
Hgene | NKX3-1 | GO:2000836 | positive regulation of androgen secretion | 19886863 |
Hgene | NKX3-1 | GO:2001022 | positive regulation of response to DNA damage stimulus | 20395202 |
Hgene | NKX3-1 | GO:2001235 | positive regulation of apoptotic signaling pathway | 20599703 |
Hgene | NKX3-1 | GO:2001244 | positive regulation of intrinsic apoptotic signaling pathway | 17486276 |
![]() (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 | PRAD | TCGA-EJ-5519-01A | NKX3-1 | chr8 | 23536206 | - | SEC63 | chr6 | 108214782 | - |
* 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 |
Frame-shift | ENST00000380871 | ENST00000369002 | NKX3-1 | chr8 | 23536206 | - | SEC63 | chr6 | 108214782 | - |
5CDS-intron | ENST00000380871 | ENST00000460009 | NKX3-1 | chr8 | 23536206 | - | SEC63 | chr6 | 108214782 | - |
intron-3CDS | ENST00000523261 | ENST00000369002 | NKX3-1 | chr8 | 23536206 | - | SEC63 | chr6 | 108214782 | - |
intron-intron | ENST00000523261 | ENST00000460009 | NKX3-1 | chr8 | 23536206 | - | SEC63 | chr6 | 108214782 | - |
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FusionProtFeatures for NKX3-1_SEC63 |
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Hgene | Tgene |
NKX3-1 | SEC63 |
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. |
![]() * 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 NKX3-1_SEC63 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
NKX3-1 | SPDEF, 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, FAM136A | SEC63 | GSTK1, 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 |
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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 NKX3-1_SEC63 |
![]() (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 NKX3-1_SEC63 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | NKX3-1 | C0033578 | Prostatic Neoplasms | 4 | CTD_human |
Tgene | SEC63 | C0022680 | Polycystic Kidney Diseases | 1 | CTD_human |
Tgene | SEC63 | C0158683 | Polycystic liver disease | 1 | CTD_human;HPO;ORPHANET |