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Fusion gene ID: 39730 |
FusionGeneSummary for TSC22D3_AP3M1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TSC22D3_AP3M1 | Fusion gene ID: 39730 | Hgene | Tgene | Gene symbol | TSC22D3 | AP3M1 | Gene ID | 1831 | 26985 |
| Gene name | TSC22 domain family member 3 | adaptor related protein complex 3 subunit mu 1 | |
| Synonyms | DIP|DSIPI|GILZ|TSC-22R | - | |
| Cytomap | Xq22.3 | 10q22.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | TSC22 domain family protein 3DSIP-immunoreactive leucine zipper proteinDSIP-immunoreactive peptideTSC-22 related proteinTSC-22-like proteindelta sleep-inducing peptide immunoreactorglucocorticoid-induced leucine zipper protein | AP-3 complex subunit mu-1AP-3 adapter complex mu3A subunitadapter-related protein complex 3 mu-1 subunitadaptor related protein complex 3 mu 1 subunitclathrin adaptor complex AP3, mu-3A subunitmu-adaptin 3Amu3A-adaptin | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q99576 | Q9Y2T2 | |
| Ensembl transtripts involved in fusion gene | ENST00000372390, ENST00000372397, ENST00000315660, ENST00000372383, ENST00000372384, ENST00000372382, ENST00000506081, ENST00000514426, | ENST00000355264, ENST00000372745, ENST00000487653, | |
| Fusion gene scores | * DoF score | 5 X 6 X 2=60 | 5 X 4 X 4=80 |
| # samples | 6 | 5 | |
| ** MAII score | log2(6/60*10)=0 | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TSC22D3 [Title/Abstract] AND AP3M1 [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 |
| 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 | PRAD | TCGA-HC-7748-01A | TSC22D3 | chrX | 106956451 | - | AP3M1 | chr10 | 75898140 | - |
| * 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 |
| 5CDS-5UTR | ENST00000372390 | ENST00000355264 | TSC22D3 | chrX | 106956451 | - | AP3M1 | chr10 | 75898140 | - |
| 5CDS-5UTR | ENST00000372390 | ENST00000372745 | TSC22D3 | chrX | 106956451 | - | AP3M1 | chr10 | 75898140 | - |
| 5CDS-5UTR | ENST00000372390 | ENST00000487653 | TSC22D3 | chrX | 106956451 | - | AP3M1 | chr10 | 75898140 | - |
| 5CDS-5UTR | ENST00000372397 | ENST00000355264 | TSC22D3 | chrX | 106956451 | - | AP3M1 | chr10 | 75898140 | - |
| 5CDS-5UTR | ENST00000372397 | ENST00000372745 | TSC22D3 | chrX | 106956451 | - | AP3M1 | chr10 | 75898140 | - |
| 5CDS-5UTR | ENST00000372397 | ENST00000487653 | TSC22D3 | chrX | 106956451 | - | AP3M1 | chr10 | 75898140 | - |
| 5CDS-5UTR | ENST00000315660 | ENST00000355264 | TSC22D3 | chrX | 106956451 | - | AP3M1 | chr10 | 75898140 | - |
| 5CDS-5UTR | ENST00000315660 | ENST00000372745 | TSC22D3 | chrX | 106956451 | - | AP3M1 | chr10 | 75898140 | - |
| 5CDS-5UTR | ENST00000315660 | ENST00000487653 | TSC22D3 | chrX | 106956451 | - | AP3M1 | chr10 | 75898140 | - |
| 5CDS-5UTR | ENST00000372383 | ENST00000355264 | TSC22D3 | chrX | 106956451 | - | AP3M1 | chr10 | 75898140 | - |
| 5CDS-5UTR | ENST00000372383 | ENST00000372745 | TSC22D3 | chrX | 106956451 | - | AP3M1 | chr10 | 75898140 | - |
| 5CDS-5UTR | ENST00000372383 | ENST00000487653 | TSC22D3 | chrX | 106956451 | - | AP3M1 | chr10 | 75898140 | - |
| 5CDS-5UTR | ENST00000372384 | ENST00000355264 | TSC22D3 | chrX | 106956451 | - | AP3M1 | chr10 | 75898140 | - |
| 5CDS-5UTR | ENST00000372384 | ENST00000372745 | TSC22D3 | chrX | 106956451 | - | AP3M1 | chr10 | 75898140 | - |
| 5CDS-5UTR | ENST00000372384 | ENST00000487653 | TSC22D3 | chrX | 106956451 | - | AP3M1 | chr10 | 75898140 | - |
| intron-5UTR | ENST00000372382 | ENST00000355264 | TSC22D3 | chrX | 106956451 | - | AP3M1 | chr10 | 75898140 | - |
| intron-5UTR | ENST00000372382 | ENST00000372745 | TSC22D3 | chrX | 106956451 | - | AP3M1 | chr10 | 75898140 | - |
| intron-5UTR | ENST00000372382 | ENST00000487653 | TSC22D3 | chrX | 106956451 | - | AP3M1 | chr10 | 75898140 | - |
| intron-5UTR | ENST00000506081 | ENST00000355264 | TSC22D3 | chrX | 106956451 | - | AP3M1 | chr10 | 75898140 | - |
| intron-5UTR | ENST00000506081 | ENST00000372745 | TSC22D3 | chrX | 106956451 | - | AP3M1 | chr10 | 75898140 | - |
| intron-5UTR | ENST00000506081 | ENST00000487653 | TSC22D3 | chrX | 106956451 | - | AP3M1 | chr10 | 75898140 | - |
| intron-5UTR | ENST00000514426 | ENST00000355264 | TSC22D3 | chrX | 106956451 | - | AP3M1 | chr10 | 75898140 | - |
| intron-5UTR | ENST00000514426 | ENST00000372745 | TSC22D3 | chrX | 106956451 | - | AP3M1 | chr10 | 75898140 | - |
| intron-5UTR | ENST00000514426 | ENST00000487653 | TSC22D3 | chrX | 106956451 | - | AP3M1 | chr10 | 75898140 | - |
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FusionProtFeatures for TSC22D3_AP3M1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TSC22D3 | AP3M1 |
| Protects T-cells from IL2 deprivation-induced apoptosisthrough the inhibition of FOXO3A transcriptional activity thatleads to the down-regulation of the pro-apoptotic factor BCL2L11.In macrophages, plays a role in the anti-inflammatory andimmunosuppressive effects of glucocorticoids and IL10. In T-cells,inhibits anti-CD3-induced NFKB1 nuclear translocation. In vitro,suppresses AP1 and NFKB1 DNA-binding activities (By similarity).Isoform 1 inhibits myogenic differentiation and mediates anti-myogenic effects of glucocorticoids by binding and regulatingMYOD1 and HDAC1 transcriptional activity resulting in reducedexpression of MYOG (By similarity). {ECO:0000250,ECO:0000269|PubMed:15031210}. | Part of the AP-3 complex, an adaptor-related complexwhich is not clathrin-associated. The complex is associated withthe Golgi region as well as more peripheral structures. Itfacilitates the budding of vesicles from the Golgi membrane andmay be directly involved in trafficking to lysosomes. In concertwith the BLOC-1 complex, AP-3 is required to target cargos intovesicles assembled at cell bodies for delivery into neurites andnerve terminals. |
| 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 TSC22D3_AP3M1 |
| 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 TSC22D3_AP3M1 |
| 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 |
| TSC22D3 | PLEKHF2, HPCAL4, RAF1, FOS, JUN, TSC22D3, NFKB1, NFKB2, MYOD1, HDAC1, HDAC2, UBC, SGK1, UBE2I, SUMO1, CASP8, PCK1, ELAVL1, SCNN1B, NEDD4L, MTA2, DCLK2, TP53, MDM2, MAD1L1, C19orf57, ENDOV, EID3, TSC22D4, ALDH3B1, FIGNL1, TSC22D2, TSC22D1, RCCD1, FAM117B, NRBP1, KIAA1683, CEP55, CDC42SE2, SIRT6, UBE3D, NUFIP2, AGAP3 | AP3M1 | VAMP7, AP3S2, WDR48, TGOLN2, GRK5, AP3D1, AP3B1, AP3S1, RABL6, PSMA1, PSMA3, PSMA4, PSMB1, PSMB3, PSMA7, PSMB5, EGFR, CRMP1, RSPH14, AGTRAP, SIPA1L2, TRIM9, RUFY1, VTI1B, HLA-DMB, IDS, AGO3, FAM9A, DTNBP1, SKAP1, PALM2, EDA, EPB41L3, UBTF, BRD4, NTRK1, MKS1, CEP152, CEP44, SCLT1, CEP19, STIL, TCTN1, TMEM17, XPO1, KIF11, MYO1C, RAP1B, VCL, AP3B2, AP3M2, FERMT2, CAMKV, PIP4K2A, RNF19B, TMEM63A, VASN, EPHA1, CD79B, LASP1 |
| - 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 TSC22D3_AP3M1 |
| 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 TSC22D3_AP3M1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TSC22D3 | C0020459 | Hyperinsulinism | 1 | CTD_human |
| Hgene | TSC22D3 | C0021364 | Male infertility | 1 | CTD_human |
| Hgene | TSC22D3 | C0039584 | Testicular Diseases | 1 | CTD_human |
| Hgene | TSC22D3 | C1262477 | Weight decreased | 1 | CTD_human |
| Tgene | AP3M1 | C0036341 | Schizophrenia | 1 | PSYGENET |
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