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Fusion gene ID: 14553 |
FusionGeneSummary for GEMIN4_CRTC3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GEMIN4_CRTC3 | Fusion gene ID: 14553 | Hgene | Tgene | Gene symbol | GEMIN4 | CRTC3 | Gene ID | 50628 | 64784 |
| Gene name | gem nuclear organelle associated protein 4 | CREB regulated transcription coactivator 3 | |
| Synonyms | HC56|HCAP1|HHRF-1|NEDMCR|p97 | TORC-3|TORC3 | |
| Cytomap | 17p13.3 | 15q26.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | gem-associated protein 4HCC-associated protein 1component of gems 4gemin-4 | CREB-regulated transcription coactivator 3transducer of regulated CREB protein 3transducer of regulated cAMP response element-binding protein (CREB) 3 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P57678 | Q6UUV7 | |
| Ensembl transtripts involved in fusion gene | ENST00000319004, ENST00000437269, ENST00000576778, | ENST00000420329, ENST00000560098, ENST00000268184, ENST00000558619, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 7 X 8 X 4=224 |
| # samples | 1 | 7 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(7/224*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: GEMIN4 [Title/Abstract] AND CRTC3 [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 | GEMIN4 | GO:0000387 | spliceosomal snRNP assembly | 18984161 |
| 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 | LUAD | TCGA-38-4628-01A | GEMIN4 | chr17 | 655858 | - | CRTC3 | chr15 | 91161115 | + |
| * 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 |
| intron-3CDS | ENST00000319004 | ENST00000420329 | GEMIN4 | chr17 | 655858 | - | CRTC3 | chr15 | 91161115 | + |
| intron-intron | ENST00000319004 | ENST00000560098 | GEMIN4 | chr17 | 655858 | - | CRTC3 | chr15 | 91161115 | + |
| intron-intron | ENST00000319004 | ENST00000268184 | GEMIN4 | chr17 | 655858 | - | CRTC3 | chr15 | 91161115 | + |
| intron-intron | ENST00000319004 | ENST00000558619 | GEMIN4 | chr17 | 655858 | - | CRTC3 | chr15 | 91161115 | + |
| intron-3CDS | ENST00000437269 | ENST00000420329 | GEMIN4 | chr17 | 655858 | - | CRTC3 | chr15 | 91161115 | + |
| intron-intron | ENST00000437269 | ENST00000560098 | GEMIN4 | chr17 | 655858 | - | CRTC3 | chr15 | 91161115 | + |
| intron-intron | ENST00000437269 | ENST00000268184 | GEMIN4 | chr17 | 655858 | - | CRTC3 | chr15 | 91161115 | + |
| intron-intron | ENST00000437269 | ENST00000558619 | GEMIN4 | chr17 | 655858 | - | CRTC3 | chr15 | 91161115 | + |
| intron-3CDS | ENST00000576778 | ENST00000420329 | GEMIN4 | chr17 | 655858 | - | CRTC3 | chr15 | 91161115 | + |
| intron-intron | ENST00000576778 | ENST00000560098 | GEMIN4 | chr17 | 655858 | - | CRTC3 | chr15 | 91161115 | + |
| intron-intron | ENST00000576778 | ENST00000268184 | GEMIN4 | chr17 | 655858 | - | CRTC3 | chr15 | 91161115 | + |
| intron-intron | ENST00000576778 | ENST00000558619 | GEMIN4 | chr17 | 655858 | - | CRTC3 | chr15 | 91161115 | + |
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FusionProtFeatures for GEMIN4_CRTC3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GEMIN4 | CRTC3 |
| The SMN complex plays a catalyst role in the assembly ofsmall nuclear ribonucleoproteins (snRNPs), the building blocks ofthe spliceosome. Thereby, plays an important role in the splicingof cellular pre-mRNAs. Most spliceosomal snRNPs contain a commonset of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF andSNRPG that assemble in a heptameric protein ring on the Sm site ofthe small nuclear RNA to form the core snRNP. In the cytosol, theSm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped inan inactive 6S pICln-Sm complex by the chaperone CLNS1A thatcontrols the assembly of the core snRNP. Dissociation by the SMNcomplex of CLNS1A from the trapped Sm proteins and their transferto an SMN-Sm complex triggers the assembly of core snRNPs andtheir transport to the nucleus. {ECO:0000269|PubMed:18984161}. | Transcriptional coactivator for CREB1 which activatestranscription through both consensus and variant cAMP responseelement (CRE) sites. Acts as a coactivator, in the SIK/TORCsignaling pathway, being active when dephosphorylated and actsindependently of CREB1 'Ser-133' phosphorylation. Enhances theinteraction of CREB1 with TAF4. Regulates the expression ofspecific CREB-activated genes such as the steroidogenic gene,StAR. Potent coactivator of PPARGC1A and inducer of mitochondrialbiogenesis in muscle cells. Also coactivator for TAX activation ofthe human T-cell leukemia virus type 1 (HTLV-1) long terminalrepeats (LTR). {ECO:0000269|PubMed:14506290,ECO:0000269|PubMed:15454081, ECO:0000269|PubMed:15466468,ECO:0000269|PubMed:16817901, ECO:0000269|PubMed:16980408,ECO:0000269|PubMed:17210223, ECO:0000269|PubMed:17644518}. |
| 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 GEMIN4_CRTC3 |
| 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 GEMIN4_CRTC3 |
| 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 |
| GEMIN4 | GSK3B, RNPS1, NFKBIL1, GIPC1, ILK, SNRPB, CDK4, FIBP, BRF2, MYC, AGO2, PPP4R2, DDX20, PPP4C, SMN1, GEMIN5, FBL, GAR1, LGALS1, LGALS3, GEMIN6, DHX9, SLX1B, CLN3, GIGYF2, SIRT7, CALCOCO2, GRK5, TOP1, GEMIN2, RNU1-1, RNU2-1, SRP9, SRP54, BARD1, PNKP, IQCB1, DICER1, UBL4A, HDAC11, GEMIN4, EGFR, RN7SL1, FLAD1, MORC4, DMPK, SQSTM1, SPRY1, PIAS3, SRRT, GLYR1, MIB1, RPA3, RPA2, RPA1, BMI1, P2RY12, F2RL1, PTGER3, CRYAB, ALDH3A2, WHSC1, NTRK1, GEMIN7, SNW1, CDC5L, USP9X, SMN2, SNRNP70, SNRPE, STRAP, SNRPF, SIGLECL1, SNRPG, OPRM1, FZD10, UXS1, PTPN9, CD2BP2, PARK7, NUFIP1 | CRTC3 | YWHAG, YWHAB, SCYL1, NEDD1, MAGEA10, EWSR1, CENPJ, XPO1, CLTC, HCCS, HSPA5, POLD1, MAPK8, LRP8, GTSE1, PCDHB15, CFAP97, MCM2, DCAF7, KCTD3, KIF13B, CGN, ZBTB21, KSR1, CBY1, MDM2, TRIM25 |
| - 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 GEMIN4_CRTC3 |
| 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 GEMIN4_CRTC3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | GEMIN4 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| Hgene | GEMIN4 | C0036341 | Schizophrenia | 1 | PSYGENET |
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