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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: 34953

FusionGeneSummary for SMO_CHCHD3

check button Fusion gene summary
Fusion gene informationFusion gene name: SMO_CHCHD3
Fusion gene ID: 34953
HgeneTgene
Gene symbol

SMO

CHCHD3

Gene ID

54498

54927

Gene namespermine oxidasecoiled-coil-helix-coiled-coil-helix domain containing 3
SynonymsC20orf16|PAO|PAO-1|PAO1|PAOH|PAOH1|SMOMINOS3|Mic19|PPP1R22
Cytomap

20p13

7q32.3-q33

Type of geneprotein-codingprotein-coding
Descriptionspermine oxidaseflavin containing amine oxidaseflavin-containing spermine oxidasepolyamine oxidase 1putative cyclin G1 interacting proteinMICOS complex subunit MIC19coiled-coil-helix-coiled-coil-helix domain-containing protein 3, mitochondrialmitochondrial inner membrane organizing system 3protein phosphatase 1, regulatory subunit 22
Modification date2018052320180527
UniProtAcc

Q99835

Q9NX63

Ensembl transtripts involved in fusion geneENST00000249373, ENST00000262570, 
ENST00000448878, ENST00000476546, 
ENST00000542753, 
Fusion gene scores* DoF score6 X 6 X 3=10811 X 13 X 4=572
# samples 714
** MAII scorelog2(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)

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

GO:0006598

polyamine catabolic process

12477380

TgeneCHCHD3

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
ChiTaRS3.1BC004142SMOchr7

128848619

-CHCHD3chr7

132720688

-
* 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
5CDS-intronENST00000249373ENST00000262570SMOchr7

128848619

-CHCHD3chr7

132720688

-
5CDS-intronENST00000249373ENST00000448878SMOchr7

128848619

-CHCHD3chr7

132720688

-
5CDS-intronENST00000249373ENST00000476546SMOchr7

128848619

-CHCHD3chr7

132720688

-
5CDS-intronENST00000249373ENST00000542753SMOchr7

128848619

-CHCHD3chr7

132720688

-

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FusionProtFeatures for SMO_CHCHD3


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

Q99835

CHCHD3

Q9NX63

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}.

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 SMO_CHCHD3


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 SMO_CHCHD3


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


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 SMO_CHCHD3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneSMOQ99835DB01047FluocinonideSmoothened homologsmall moleculeapproved|investigational
HgeneSMOQ99835DB08828VismodegibSmoothened homologsmall moleculeapproved|investigational
HgeneSMOQ99835DB09143SonidegibSmoothened homologsmall moleculeapproved|investigational
HgeneSMOQ99835DB06786HalcinonideSmoothened homologsmall moleculeapproved|investigational|withdrawn

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RelatedDiseases for SMO_CHCHD3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSMOC0007117Basal cell carcinoma2CTD_human;HPO
HgeneSMOC0002448Ameloblastoma1CTD_human
HgeneSMOC0006118Brain Neoplasms1CTD_human
HgeneSMOC0022360Jaw Abnormalities1CTD_human
HgeneSMOC0023487Acute Promyelocytic Leukemia1CTD_human
HgeneSMOC0024954Maxillary Neoplasms1CTD_human
HgeneSMOC0025286Meningioma1CTD_human
HgeneSMOC0037286Skin Neoplasms1CTD_human
HgeneSMOC0206663Neuroectodermal Tumor, Primitive1CTD_human
HgeneSMOC0795915Winter Shortland Temple syndrome1ORPHANET;UNIPROT
TgeneCHCHD3C0236969Substance-Related Disorders1CTD_human