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Fusion gene ID: 6947 |
FusionGeneSummary for CHCHD3_NUP205 |
Fusion gene summary |
Fusion gene information | Fusion gene name: CHCHD3_NUP205 | Fusion gene ID: 6947 | Hgene | Tgene | Gene symbol | CHCHD3 | NUP205 | Gene ID | 54927 | 23165 |
Gene name | coiled-coil-helix-coiled-coil-helix domain containing 3 | nucleoporin 205 | |
Synonyms | MINOS3|Mic19|PPP1R22 | C7orf14|NPHS13 | |
Cytomap | 7q32.3-q33 | 7q33 | |
Type of gene | protein-coding | protein-coding | |
Description | MICOS complex subunit MIC19coiled-coil-helix-coiled-coil-helix domain-containing protein 3, mitochondrialmitochondrial inner membrane organizing system 3protein phosphatase 1, regulatory subunit 22 | nuclear pore complex protein Nup205205 kDa nucleoporinnucleoporin Nup205 | |
Modification date | 20180527 | 20180523 | |
UniProtAcc | Q9NX63 | Q92621 | |
Ensembl transtripts involved in fusion gene | ENST00000262570, ENST00000448878, ENST00000476546, ENST00000542753, | ENST00000285968, ENST00000440390, ENST00000489493, | |
Fusion gene scores | * DoF score | 8 X 8 X 6=384 | 3 X 4 X 3=36 |
# samples | 9 | 4 | |
** MAII score | log2(9/384*10)=-2.09310940439148 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: CHCHD3 [Title/Abstract] AND NUP205 [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 | CHCHD3 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 22567091 |
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 | LGG | TCGA-P5-A72U-01A | CHCHD3 | chr7 | 132709306 | - | NUP205 | chr7 | 135333152 | + |
* 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 | ENST00000262570 | ENST00000285968 | CHCHD3 | chr7 | 132709306 | - | NUP205 | chr7 | 135333152 | + |
5CDS-intron | ENST00000262570 | ENST00000440390 | CHCHD3 | chr7 | 132709306 | - | NUP205 | chr7 | 135333152 | + |
5CDS-intron | ENST00000262570 | ENST00000489493 | CHCHD3 | chr7 | 132709306 | - | NUP205 | chr7 | 135333152 | + |
Frame-shift | ENST00000448878 | ENST00000285968 | CHCHD3 | chr7 | 132709306 | - | NUP205 | chr7 | 135333152 | + |
5CDS-intron | ENST00000448878 | ENST00000440390 | CHCHD3 | chr7 | 132709306 | - | NUP205 | chr7 | 135333152 | + |
5CDS-intron | ENST00000448878 | ENST00000489493 | CHCHD3 | chr7 | 132709306 | - | NUP205 | chr7 | 135333152 | + |
5UTR-3CDS | ENST00000476546 | ENST00000285968 | CHCHD3 | chr7 | 132709306 | - | NUP205 | chr7 | 135333152 | + |
5UTR-intron | ENST00000476546 | ENST00000440390 | CHCHD3 | chr7 | 132709306 | - | NUP205 | chr7 | 135333152 | + |
5UTR-intron | ENST00000476546 | ENST00000489493 | CHCHD3 | chr7 | 132709306 | - | NUP205 | chr7 | 135333152 | + |
Frame-shift | ENST00000542753 | ENST00000285968 | CHCHD3 | chr7 | 132709306 | - | NUP205 | chr7 | 135333152 | + |
5CDS-intron | ENST00000542753 | ENST00000440390 | CHCHD3 | chr7 | 132709306 | - | NUP205 | chr7 | 135333152 | + |
5CDS-intron | ENST00000542753 | ENST00000489493 | CHCHD3 | chr7 | 132709306 | - | NUP205 | chr7 | 135333152 | + |
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FusionProtFeatures for CHCHD3_NUP205 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
CHCHD3 | NUP205 |
Component of the MICOS complex, a large protein complexof the mitochondrial inner membrane that plays crucial roles inthe maintenance of crista junctions, inner membrane architecture,and formation of contact sites to the outer membrane. Has alsobeen shown to function as a transcription factor which binds tothe BAG1 promoter and represses BAG1 transcription. Plays animportant role in the maintenance of the MICOS complex stabilityand the mitochondrial cristae morphology (PubMed:25781180).{ECO:0000269|PubMed:22567091, ECO:0000269|PubMed:25781180}. | Plays a role in the nuclear pore complex (NPC) assemblyand/or maintenance (PubMed:9348540). May anchor NUP62 and othernucleoporins, but not NUP153 and TPR, to the NPC(PubMed:15229283). {ECO:0000269|PubMed:15229283,ECO:0000269|PubMed:9348540}. |
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 CHCHD3_NUP205 |
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 CHCHD3_NUP205 |
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 |
CHCHD3 | KRTAP4-12, CCDC85B, UBC, MINOS1, NUDT3, TCF3, SNRPD3, ECT2, MDC1, FMNL1, MYC, PAN2, NPM1, HDAC8, PARK2, GPRASP2, GOLGA2, TRIM27, TRAF1, BLZF1, PDE4DIP, CALCOCO2, SPAG5, SAMM50, FANCL, RPGRIP1, GMCL1P1, CCDC33, USHBP1, LZTS2, RAB3IP, SSX2IP, KRT40, SPERT, NOTCH2NL, CUL7, OBSL1, CCDC8, EZH2, SUZ12, RNF2, EGFR, NTRK1, NDUFA8, AMOTL2, MYO1C, RAB2A, RAB5C, RAB7A, VAPA, TOMM40, MTX2, TRIM29, TOR1AIP1, GOLT1B, DNAJC11, MYO19, MMGT1, C19orf70, APOOL, OCIAD1, NDUFA4, ADCK1, C15orf48, DUSP22, RAB8A, NCL, COQ2, DLST, PDHA1, SDHA, VDAC1, TRIM25, G3BP1 | NUP205 | PHLDA3, PHB2, MAGED1, TTBK1, MYC, TPR, USP50, CLN3, SIRT7, HNRNPA1, RAPGEF3, CUL3, NXF1, TADA3, VCP, FN1, VCAM1, ITGA4, FBXW4, HOXC10, FBXO6, NUDCD3, LGR4, ENO1, SHMT2, MOV10, CUL7, OBSL1, CCDC8, EED, RNF2, HYOU1, NUP93, NTRK1, KRAS, IFI16, NUP35, TCTN3, CEP128, CEP164, CNTRL, TCTN1, KPNB1, UBE2I, NUPL1, NUP153, NUP107, SEH1L, FOXB1, FOXG1, FOXI2, FOXL1, FOXL2, FOXQ1, MTMR3, STOM, TRIM25, G3BP1, FBXL13 |
- 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 CHCHD3_NUP205 |
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 CHCHD3_NUP205 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CHCHD3 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
Tgene | NUP205 | C0029401 | Osteitis Deformans | 1 | CTD_human |
Tgene | NUP205 | C1868672 | NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE | 1 | CTD_human |
Tgene | NUP205 | C4225165 | NEPHROTIC SYNDROME, TYPE 13 | 1 | UNIPROT |