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Fusion gene ID: 23340 |
FusionGeneSummary for NACC2_LHX3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NACC2_LHX3 | Fusion gene ID: 23340 | Hgene | Tgene | Gene symbol | NACC2 | LHX3 | Gene ID | 138151 | 8022 |
| Gene name | NACC family member 2 | LIM homeobox 3 | |
| Synonyms | BEND9|BTBD14|BTBD14A|BTBD31|NAC-2|RBB | CPHD3|LIM3|M2-LHX3 | |
| Cytomap | 9q34.3 | 9q34.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | nucleus accumbens-associated protein 2BEN domain containing 9BTB (POZ) domain containing 14ABTB/POZ domain-containing protein 14ANACC family member 2, BEN and BTB (POZ) domain containingrepressor with BTB domain and BEN domaintranscription repressor | LIM/homeobox protein Lhx3LIM homeobox protein 3LIM/homeodomain protein LHX3 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q96BF6 | Q9UBR4 | |
| Ensembl transtripts involved in fusion gene | ENST00000371753, ENST00000277554, ENST00000467669, | ENST00000371746, ENST00000371748, | |
| Fusion gene scores | * DoF score | 2 X 1 X 2=4 | 2 X 1 X 2=4 |
| # samples | 2 | 2 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: NACC2 [Title/Abstract] AND LHX3 [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 | NACC2 | GO:0008285 | negative regulation of cell proliferation | 22926524 |
| Hgene | NACC2 | GO:0034629 | cellular protein-containing complex localization | 22926524 |
| Hgene | NACC2 | GO:0045892 | negative regulation of transcription, DNA-templated | 22926524 |
| Hgene | NACC2 | GO:0051260 | protein homooligomerization | 22926524 |
| Hgene | NACC2 | GO:1900477 | negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter | 22926524 |
| Hgene | NACC2 | GO:1902231 | positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage | 22926524 |
| Tgene | LHX3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 15271874 |
| 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 | LD | UCEC | TCGA-AX-A2H4-01A | NACC2 | chr9 | 138941482 | - | LHX3 | chr9 | 139092599 | - |
| * 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 | ENST00000371753 | ENST00000371746 | NACC2 | chr9 | 138941482 | - | LHX3 | chr9 | 139092599 | - |
| Frame-shift | ENST00000371753 | ENST00000371748 | NACC2 | chr9 | 138941482 | - | LHX3 | chr9 | 139092599 | - |
| Frame-shift | ENST00000277554 | ENST00000371746 | NACC2 | chr9 | 138941482 | - | LHX3 | chr9 | 139092599 | - |
| Frame-shift | ENST00000277554 | ENST00000371748 | NACC2 | chr9 | 138941482 | - | LHX3 | chr9 | 139092599 | - |
| intron-3CDS | ENST00000467669 | ENST00000371746 | NACC2 | chr9 | 138941482 | - | LHX3 | chr9 | 139092599 | - |
| intron-3CDS | ENST00000467669 | ENST00000371748 | NACC2 | chr9 | 138941482 | - | LHX3 | chr9 | 139092599 | - |
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FusionProtFeatures for NACC2_LHX3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NACC2 | LHX3 |
| Functions as a transcriptional repressor through itsassociation with the NuRD complex. Recruits the NuRD complex tothe promoter of MDM2, leading to the repression of MDM2transcription and subsequent stability of p53/TP53.{ECO:0000269|PubMed:22926524}. | Acts as a transcriptional activator. Binds to andactivates the promoter of the alpha-glycoprotein gene, andsynergistically enhances transcription from the prolactin promoterin cooperation with POU1F1/Pit-1 (By similarity). Required for theestablishment of the specialized cells of the pituitary gland andthe nervous system. Involved in the development of interneuronsand motor neurons in cooperation with LDB1 and ISL1. {ECO:0000250,ECO:0000269|PubMed:21149718}. |
| 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 NACC2_LHX3 |
| 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 NACC2_LHX3 |
| 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 |
| NACC2 | EPS8, NACC2, HDAC1, HDAC2, MTA1, MTA2, RBBP7, RBBP4, CHD4, MTA3, FOXP3, TRIM25 | LHX3 | CITED2, IFT172, LHX1, LMX1A, ISL1, ISL2, RLIM |
| - 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 NACC2_LHX3 |
| 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 NACC2_LHX3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | LHX3 | C3489787 | Pituitary Hormone Deficiency, Combined, 3 | 2 | CTD_human;ORPHANET;UNIPROT |
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