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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 6947

FusionGeneSummary for CHCHD3_NUP205

check button Fusion gene summary
Fusion gene informationFusion gene name: CHCHD3_NUP205
Fusion gene ID: 6947
HgeneTgene
Gene symbol

CHCHD3

NUP205

Gene ID

54927

23165

Gene namecoiled-coil-helix-coiled-coil-helix domain containing 3nucleoporin 205
SynonymsMINOS3|Mic19|PPP1R22C7orf14|NPHS13
Cytomap

7q32.3-q33

7q33

Type of geneprotein-codingprotein-coding
DescriptionMICOS complex subunit MIC19coiled-coil-helix-coiled-coil-helix domain-containing protein 3, mitochondrialmitochondrial inner membrane organizing system 3protein phosphatase 1, regulatory subunit 22nuclear pore complex protein Nup205205 kDa nucleoporinnucleoporin Nup205
Modification date2018052720180523
UniProtAcc

Q9NX63

Q92621

Ensembl transtripts involved in fusion geneENST00000262570, ENST00000448878, 
ENST00000476546, ENST00000542753, 
ENST00000285968, ENST00000440390, 
ENST00000489493, 
Fusion gene scores* DoF score8 X 8 X 6=3843 X 4 X 3=36
# samples 94
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCHCHD3

GO:0000122

negative regulation of transcription by RNA polymerase II

22567091


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLGGTCGA-P5-A72U-01ACHCHD3chr7

132709306

-NUP205chr7

135333152

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shiftENST00000262570ENST00000285968CHCHD3chr7

132709306

-NUP205chr7

135333152

+
5CDS-intronENST00000262570ENST00000440390CHCHD3chr7

132709306

-NUP205chr7

135333152

+
5CDS-intronENST00000262570ENST00000489493CHCHD3chr7

132709306

-NUP205chr7

135333152

+
Frame-shiftENST00000448878ENST00000285968CHCHD3chr7

132709306

-NUP205chr7

135333152

+
5CDS-intronENST00000448878ENST00000440390CHCHD3chr7

132709306

-NUP205chr7

135333152

+
5CDS-intronENST00000448878ENST00000489493CHCHD3chr7

132709306

-NUP205chr7

135333152

+
5UTR-3CDSENST00000476546ENST00000285968CHCHD3chr7

132709306

-NUP205chr7

135333152

+
5UTR-intronENST00000476546ENST00000440390CHCHD3chr7

132709306

-NUP205chr7

135333152

+
5UTR-intronENST00000476546ENST00000489493CHCHD3chr7

132709306

-NUP205chr7

135333152

+
Frame-shiftENST00000542753ENST00000285968CHCHD3chr7

132709306

-NUP205chr7

135333152

+
5CDS-intronENST00000542753ENST00000440390CHCHD3chr7

132709306

-NUP205chr7

135333152

+
5CDS-intronENST00000542753ENST00000489493CHCHD3chr7

132709306

-NUP205chr7

135333152

+

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FusionProtFeatures for CHCHD3_NUP205


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CHCHD3

Q9NX63

NUP205

Q92621

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for CHCHD3_NUP205


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
CHCHD3KRTAP4-12, 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, G3BP1NUP205PHLDA3, 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


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for CHCHD3_NUP205


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for CHCHD3_NUP205


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCHCHD3C0236969Substance-Related Disorders1CTD_human
TgeneNUP205C0029401Osteitis Deformans1CTD_human
TgeneNUP205C1868672NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE1CTD_human
TgeneNUP205C4225165NEPHROTIC SYNDROME, TYPE 131UNIPROT