|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 34953 |
FusionGeneSummary for SMO_CHCHD3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMO_CHCHD3 | Fusion gene ID: 34953 | Hgene | Tgene | Gene symbol | SMO | CHCHD3 | Gene ID | 54498 | 54927 |
| Gene name | spermine oxidase | coiled-coil-helix-coiled-coil-helix domain containing 3 | |
| Synonyms | C20orf16|PAO|PAO-1|PAO1|PAOH|PAOH1|SMO | MINOS3|Mic19|PPP1R22 | |
| Cytomap | 20p13 | 7q32.3-q33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | spermine oxidaseflavin containing amine oxidaseflavin-containing spermine oxidasepolyamine oxidase 1putative cyclin G1 interacting protein | MICOS complex subunit MIC19coiled-coil-helix-coiled-coil-helix domain-containing protein 3, mitochondrialmitochondrial inner membrane organizing system 3protein phosphatase 1, regulatory subunit 22 | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q99835 | Q9NX63 | |
| Ensembl transtripts involved in fusion gene | ENST00000249373, | ENST00000262570, ENST00000448878, ENST00000476546, ENST00000542753, | |
| Fusion gene scores | * DoF score | 6 X 6 X 3=108 | 11 X 13 X 4=572 |
| # samples | 7 | 14 | |
| ** MAII score | log2(7/108*10)=-0.625604485218502 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(14/572*10)=-2.03058831983342 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SMO [Title/Abstract] AND CHCHD3 [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 | SMO | GO:0006598 | polyamine catabolic process | 12477380 |
| Tgene | 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 |
| ChiTaRS3.1 | BC004142 | SMO | chr7 | 128848619 | - | CHCHD3 | chr7 | 132720688 | - |
| * 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-intron | ENST00000249373 | ENST00000262570 | SMO | chr7 | 128848619 | - | CHCHD3 | chr7 | 132720688 | - |
| 5CDS-intron | ENST00000249373 | ENST00000448878 | SMO | chr7 | 128848619 | - | CHCHD3 | chr7 | 132720688 | - |
| 5CDS-intron | ENST00000249373 | ENST00000476546 | SMO | chr7 | 128848619 | - | CHCHD3 | chr7 | 132720688 | - |
| 5CDS-intron | ENST00000249373 | ENST00000542753 | SMO | chr7 | 128848619 | - | CHCHD3 | chr7 | 132720688 | - |
Top |
FusionProtFeatures for SMO_CHCHD3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMO | CHCHD3 |
| G protein-coupled receptor that probably associates withthe patched protein (PTCH) to transduce the hedgehog's proteinssignal. Binding of sonic hedgehog (SHH) to its receptor patched isthought to prevent normal inhibition by patched of smoothened(SMO). Required for the accumulation of KIF7, GLI2 and GLI3 in thecilia (PubMed:19592253). Interacts with DLG5 at the ciliary baseto induce the accumulation of KIF7 and GLI2 at the ciliary tip forGLI2 activation (By similarity). {ECO:0000250|UniProtKB:P56726,ECO:0000269|PubMed:19592253}. | 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}. |
| 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 |
Top |
FusionGeneSequence for SMO_CHCHD3 |
| 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). |
Top |
FusionGenePPI for SMO_CHCHD3 |
| 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 |
| - 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 |
Top |
RelatedDrugs for SMO_CHCHD3 |
| 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 |
| Hgene | SMO | Q99835 | DB01047 | Fluocinonide | Smoothened homolog | small molecule | approved|investigational |
| Hgene | SMO | Q99835 | DB08828 | Vismodegib | Smoothened homolog | small molecule | approved|investigational |
| Hgene | SMO | Q99835 | DB09143 | Sonidegib | Smoothened homolog | small molecule | approved|investigational |
| Hgene | SMO | Q99835 | DB06786 | Halcinonide | Smoothened homolog | small molecule | approved|investigational|withdrawn |
Top |
RelatedDiseases for SMO_CHCHD3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SMO | C0007117 | Basal cell carcinoma | 2 | CTD_human;HPO |
| Hgene | SMO | C0002448 | Ameloblastoma | 1 | CTD_human |
| Hgene | SMO | C0006118 | Brain Neoplasms | 1 | CTD_human |
| Hgene | SMO | C0022360 | Jaw Abnormalities | 1 | CTD_human |
| Hgene | SMO | C0023487 | Acute Promyelocytic Leukemia | 1 | CTD_human |
| Hgene | SMO | C0024954 | Maxillary Neoplasms | 1 | CTD_human |
| Hgene | SMO | C0025286 | Meningioma | 1 | CTD_human |
| Hgene | SMO | C0037286 | Skin Neoplasms | 1 | CTD_human |
| Hgene | SMO | C0206663 | Neuroectodermal Tumor, Primitive | 1 | CTD_human |
| Hgene | SMO | C0795915 | Winter Shortland Temple syndrome | 1 | ORPHANET;UNIPROT |
| Tgene | CHCHD3 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|