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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: 33812

FusionGeneSummary for SHROOM3_ASAH1

check button Fusion gene summary
Fusion gene informationFusion gene name: SHROOM3_ASAH1
Fusion gene ID: 33812
HgeneTgene
Gene symbol

SHROOM3

ASAH1

Gene ID

57619

427

Gene nameshroom family member 3N-acylsphingosine amidohydrolase 1
SynonymsAPXL3|MSTP013|SHRM|ShrmLAC|ACDase|ASAH|PHP|PHP32|SMAPME
Cytomap

4q21.1

8p22

Type of geneprotein-codingprotein-coding
Descriptionprotein Shroom3F-actin-binding proteinshroom-related proteinacid ceramidaseN-acylsphingosine amidohydrolase (acid ceramidase) 1acid CDaseacylsphingosine deacylaseputative 32 kDa heart protein
Modification date2018052320180529
UniProtAcc

Q8TF72

Q13510

Ensembl transtripts involved in fusion geneENST00000296043, ENST00000473602, 
ENST00000262097, ENST00000381733, 
ENST00000417108, ENST00000520781, 
ENST00000314146, ENST00000520051, 
Fusion gene scores* DoF score15 X 11 X 9=14856 X 6 X 5=180
# samples 177
** MAII scorelog2(17/1485*10)=-3.12685627955043
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/180*10)=-1.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SHROOM3 [Title/Abstract] AND ASAH1 [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

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
ChiTaRS3.1DB172989SHROOM3chr4

77547922

+ASAH1chr8

17941617

-
* 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
intron-5UTRENST00000296043ENST00000262097SHROOM3chr4

77547922

+ASAH1chr8

17941617

-
intron-intronENST00000296043ENST00000381733SHROOM3chr4

77547922

+ASAH1chr8

17941617

-
intron-intronENST00000296043ENST00000417108SHROOM3chr4

77547922

+ASAH1chr8

17941617

-
intron-5UTRENST00000296043ENST00000520781SHROOM3chr4

77547922

+ASAH1chr8

17941617

-
intron-intronENST00000296043ENST00000314146SHROOM3chr4

77547922

+ASAH1chr8

17941617

-
intron-5UTRENST00000296043ENST00000520051SHROOM3chr4

77547922

+ASAH1chr8

17941617

-
intron-5UTRENST00000473602ENST00000262097SHROOM3chr4

77547922

+ASAH1chr8

17941617

-
intron-intronENST00000473602ENST00000381733SHROOM3chr4

77547922

+ASAH1chr8

17941617

-
intron-intronENST00000473602ENST00000417108SHROOM3chr4

77547922

+ASAH1chr8

17941617

-
intron-5UTRENST00000473602ENST00000520781SHROOM3chr4

77547922

+ASAH1chr8

17941617

-
intron-intronENST00000473602ENST00000314146SHROOM3chr4

77547922

+ASAH1chr8

17941617

-
intron-5UTRENST00000473602ENST00000520051SHROOM3chr4

77547922

+ASAH1chr8

17941617

-

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FusionProtFeatures for SHROOM3_ASAH1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SHROOM3

Q8TF72

ASAH1

Q13510

Controls cell shape changes in the neuroepitheliumduring neural tube closure. Induces apical constriction inepithelial cells by promoting the apical accumulation of F-actinand myosin II, and probably by bundling stress fibers. Inducesapicobasal cell elongation by redistributing gamma-tubulin anddirecting the assembly of robust apicobasal microtubule arrays (Bysimilarity). {ECO:0000250}. Hydrolyzes the sphingolipid ceramide into sphingosineand free fatty acid. {ECO:0000269|PubMed:7744740}.

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 SHROOM3_ASAH1


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 SHROOM3_ASAH1


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 SHROOM3_ASAH1


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 SHROOM3_ASAH1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneASAH1C0268255Farber Lipogranulomatosis8CTD_human;ORPHANET;UNIPROT
TgeneASAH1C0023794Lipoidosis2CTD_human
TgeneASAH1C1834569Jankovic Rivera syndrome2ORPHANET;UNIPROT
TgeneASAH1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneASAH1C0036341Schizophrenia1PSYGENET
TgeneASAH1C0221765Chronic schizophrenia1PSYGENET