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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: 2886

FusionGeneSummary for ASAH1_PCM1

check button Fusion gene summary
Fusion gene informationFusion gene name: ASAH1_PCM1
Fusion gene ID: 2886
HgeneTgene
Gene symbol

ASAH1

PCM1

Gene ID

427

5108

Gene nameN-acylsphingosine amidohydrolase 1pericentriolar material 1
SynonymsAC|ACDase|ASAH|PHP|PHP32|SMAPMEPTC4|RET/PCM-1
Cytomap

8p22

8p22

Type of geneprotein-codingprotein-coding
Descriptionacid ceramidaseN-acylsphingosine amidohydrolase (acid ceramidase) 1acid CDaseacylsphingosine deacylaseputative 32 kDa heart proteinpericentriolar material 1 proteinPCM-1hPCM-1pericentriolar material 1, PCM1
Modification date2018052920180523
UniProtAcc

Q13510

Q15154

Ensembl transtripts involved in fusion geneENST00000262097, ENST00000381733, 
ENST00000417108, ENST00000520781, 
ENST00000314146, ENST00000520051, 
ENST00000325083, ENST00000519253, 
ENST00000524226, ENST00000518537, 
ENST00000518936, ENST00000327578, 
Fusion gene scores* DoF score6 X 7 X 3=1265 X 5 X 3=75
# samples 75
** MAII scorelog2(7/126*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ASAH1 [Title/Abstract] AND PCM1 [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
ChiTaRS3.1DB239554ASAH1chr8

17933049

-PCM1chr8

17817523

+
* 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-shitENST00000262097ENST00000325083ASAH1chr8

17933049

-PCM1chr8

17817523

+
Frame-shitENST00000262097ENST00000519253ASAH1chr8

17933049

-PCM1chr8

17817523

+
Frame-shitENST00000262097ENST00000524226ASAH1chr8

17933049

-PCM1chr8

17817523

+
5CDS-intronENST00000262097ENST00000518537ASAH1chr8

17933049

-PCM1chr8

17817523

+
5CDS-intronENST00000262097ENST00000518936ASAH1chr8

17933049

-PCM1chr8

17817523

+
5CDS-intronENST00000262097ENST00000327578ASAH1chr8

17933049

-PCM1chr8

17817523

+
Frame-shitENST00000381733ENST00000325083ASAH1chr8

17933049

-PCM1chr8

17817523

+
Frame-shitENST00000381733ENST00000519253ASAH1chr8

17933049

-PCM1chr8

17817523

+
Frame-shitENST00000381733ENST00000524226ASAH1chr8

17933049

-PCM1chr8

17817523

+
5CDS-intronENST00000381733ENST00000518537ASAH1chr8

17933049

-PCM1chr8

17817523

+
5CDS-intronENST00000381733ENST00000518936ASAH1chr8

17933049

-PCM1chr8

17817523

+
5CDS-intronENST00000381733ENST00000327578ASAH1chr8

17933049

-PCM1chr8

17817523

+
5UTR-3CDSENST00000417108ENST00000325083ASAH1chr8

17933049

-PCM1chr8

17817523

+
5UTR-3CDSENST00000417108ENST00000519253ASAH1chr8

17933049

-PCM1chr8

17817523

+
5UTR-3CDSENST00000417108ENST00000524226ASAH1chr8

17933049

-PCM1chr8

17817523

+
5UTR-intronENST00000417108ENST00000518537ASAH1chr8

17933049

-PCM1chr8

17817523

+
5UTR-intronENST00000417108ENST00000518936ASAH1chr8

17933049

-PCM1chr8

17817523

+
5UTR-intronENST00000417108ENST00000327578ASAH1chr8

17933049

-PCM1chr8

17817523

+
Frame-shitENST00000520781ENST00000325083ASAH1chr8

17933049

-PCM1chr8

17817523

+
Frame-shitENST00000520781ENST00000519253ASAH1chr8

17933049

-PCM1chr8

17817523

+
Frame-shitENST00000520781ENST00000524226ASAH1chr8

17933049

-PCM1chr8

17817523

+
5CDS-intronENST00000520781ENST00000518537ASAH1chr8

17933049

-PCM1chr8

17817523

+
5CDS-intronENST00000520781ENST00000518936ASAH1chr8

17933049

-PCM1chr8

17817523

+
5CDS-intronENST00000520781ENST00000327578ASAH1chr8

17933049

-PCM1chr8

17817523

+
Frame-shitENST00000314146ENST00000325083ASAH1chr8

17933049

-PCM1chr8

17817523

+
Frame-shitENST00000314146ENST00000519253ASAH1chr8

17933049

-PCM1chr8

17817523

+
Frame-shitENST00000314146ENST00000524226ASAH1chr8

17933049

-PCM1chr8

17817523

+
5CDS-intronENST00000314146ENST00000518537ASAH1chr8

17933049

-PCM1chr8

17817523

+
5CDS-intronENST00000314146ENST00000518936ASAH1chr8

17933049

-PCM1chr8

17817523

+
5CDS-intronENST00000314146ENST00000327578ASAH1chr8

17933049

-PCM1chr8

17817523

+
5UTR-3CDSENST00000520051ENST00000325083ASAH1chr8

17933049

-PCM1chr8

17817523

+
5UTR-3CDSENST00000520051ENST00000519253ASAH1chr8

17933049

-PCM1chr8

17817523

+
5UTR-3CDSENST00000520051ENST00000524226ASAH1chr8

17933049

-PCM1chr8

17817523

+
5UTR-intronENST00000520051ENST00000518537ASAH1chr8

17933049

-PCM1chr8

17817523

+
5UTR-intronENST00000520051ENST00000518936ASAH1chr8

17933049

-PCM1chr8

17817523

+
5UTR-intronENST00000520051ENST00000327578ASAH1chr8

17933049

-PCM1chr8

17817523

+

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FusionProtFeatures for ASAH1_PCM1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ASAH1

Q13510

PCM1

Q15154

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 ASAH1_PCM1


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 ASAH1_PCM1


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
ASAH1SETDB1, TSC22D1, PSMA3, FBXO6, CAMK1D, SRPK1, GSG1, PNKD, AAGAB, AAMP, NEFH, CAMK2B, HSF2, HSPB2, HERC2, CYP1A2, GLT1D1, ZIC1, ZSCAN12, FTH1, NONO, TBC1D22B, SLCO6A1, AIRE, HTATIP2, RNF6, TRMT2A, ZNF684, ZNF556, HMP19, LYPD1, NCDNPCM1BBS4, KRT15, ING5, KIAA0368, KRT19, CCDC53, ABI2, EXOC8, EPS8, CEP72, PCNT, HAP1, EWSR1, HNRNPUL1, CLTC, MIB1, FUS, CEP131, PPIB, SIRT7, NEURL4, PAN2, CASK, E2F4, YWHAQ, LATS2, SAV1, CEP250, HAUS2, OBSL1, CCDC8, CSPP1, CCDC183, SLC25A41, SSFA2, RASSF8, RASSF7, IFT81, NTRK1, BTRC, MED4, HERC2, AHI1, CEP162, RPGRIP1L, CC2D2A, CEP128, LCA5, OFD1, CCDC138, CEP170, PIBF1, SSX2IP, WRAP73, HAUS1, HAUS4, KIAA0753, CCDC77, CCNB2, CEP350, CEP95, CSNK1A1, DSP, KIF20A, LUZP1, MCM10, MCRS1, MPRIP, NDC80, SMARCD2, TPGS1, SUPT5H, SSBP1, KIF7, SKA1, TSPYL1, SREK1IP1, CSNK1D, IFT172, CEP55, IFT20, CCDC14, HMMR, CFAP97, IPO5, KCTD12, SNRPE, SPICE1, ABCD3, ACOT9, ATP5L, CAMSAP1, CC2D1A, CCDC66, CEP120, CKAP2, FGFR1OP, HAUS3, HAUS5, HAUS6, HAUS7, HAUS8, IDH3B, IFT57, IFT74, NCKAP5L, RAE1, STAU1, TP53BP2, TTK, TXLNA, TXLNG, TBC1D31, WDR83, XRN1, ZNF280C, ACTR2, ANKRD26, BAIAP2, BICD1, BICD2, BTF3, C11orf49, KNSTRN, C2CD3, CAMSAP2, CCDC112, CCDC18, CCDC22, CCDC85C, CCDC92, CCNB1, CCP110, CDC123, CEP164, CEP192, CEP57L1, CEP63, CEP85, CEP89, CEP97, CKAP2L, CNOT10, COMMD2, COMMD4, CSNK1E, DAPK3, DIAPH3, ERC1, EXOC4, FOPNL, GNAO1, GPATCH1, IBTK, IQCB1, KIAA1328, KIF14, LRRC49, LRRCC1, MAGED1, MAP7D3, MED29, MIS18A, MIS18BP1, MOB4, MPHOSPH9, MYO9A, NAV1, NEDD1, NME7, NOL11, NUF2, ODF2L, ODF2, PCBP3, PKN2, PLK1, KIZ, PPP1R9B, IFT22, RRM2, SCLT1, SDCCAG3, SECISBP2, SMG5, SMG7, SPATA24, SPATS2, SPC24, SRGAP2, STRN4, TANC1, TCHP, TEX9, TNIP1, TRAF3IP1, TTC12, TTF2, TTLL4, TTLL5, CEP104, CEP290, CEP152, CEP135, CNTRL, FBF1, NINL, NIN, POC5, SASS6, RPGRIP1, STIL, CENPJ, CENPE, PPP2CA, PRKAR2B, DYNLL1, MAPRE1, SLAIN2, CEP170P1, PPP2R3C, YWHAE, YWHAZ, MTMR7, C6orf118, BIN3, CCDC172, LPXN, FAM81B, COG5, ING2, CCDC65, LCA5L, CCDC40, DKK3, NECAB2, ATG14, TSC1, RNF168


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 ASAH1_PCM1


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 ASAH1_PCM1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneASAH1C0268255Farber Lipogranulomatosis8CTD_human;ORPHANET;UNIPROT
HgeneASAH1C0023794Lipoidosis2CTD_human
HgeneASAH1C1834569Jankovic Rivera syndrome2ORPHANET;UNIPROT
HgeneASAH1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneASAH1C0036341Schizophrenia1PSYGENET
HgeneASAH1C0221765Chronic schizophrenia1PSYGENET
TgenePCM1C0036341Schizophrenia1CTD_human