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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: 381

FusionGeneSummary for ACER3_THRSP

check button Fusion gene summary
Fusion gene informationFusion gene name: ACER3_THRSP
Fusion gene ID: 381
HgeneTgene
Gene symbol

ACER3

THRSP

Gene ID

55331

7069

Gene namealkaline ceramidase 3thyroid hormone responsive
SynonymsAPHC|PHCA|PLDECOLPGP1|Lpgp|S14|SPOT14|THRP
Cytomap

11q13.5

11q14.1

Type of geneprotein-codingprotein-coding
Descriptionalkaline ceramidase 3alkCDase 3alkaline CDase 3alkaline dihydroceramidase SB89alkaline phytoceramidasephytoceramidase, alkalinethyroid hormone-inducible hepatic proteinSPOT14 homologlipogenic protein 1spot 14 proteinthyroid hormone responsive (SPOT14 homolog, rat)thyroid hormone responsive SPOT14
Modification date2018051920180522
UniProtAcc

Q9NUN7

Q92748

Ensembl transtripts involved in fusion geneENST00000532485, ENST00000530182, 
ENST00000526597, ENST00000533873, 
ENST00000538157, ENST00000544113, 
ENST00000281030, 
Fusion gene scores* DoF score9 X 4 X 5=1809 X 1 X 5=45
# samples 99
** MAII scorelog2(9/180*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/45*10)=1
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ACER3 [Title/Abstract] AND THRSP [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
HgeneACER3

GO:0046512

sphingosine biosynthetic process

20068046

HgeneACER3

GO:0071602

phytosphingosine biosynthetic process

11356846|20068046


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
TCGARVBRCATCGA-A1-A0SM-01AACER3chr11

76572123

+THRSPchr11

77778705

+
* 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-3UTRENST00000532485ENST00000281030ACER3chr11

76572123

+THRSPchr11

77778705

+
3UTR-3UTRENST00000530182ENST00000281030ACER3chr11

76572123

+THRSPchr11

77778705

+
intron-3UTRENST00000526597ENST00000281030ACER3chr11

76572123

+THRSPchr11

77778705

+
5CDS-3UTRENST00000533873ENST00000281030ACER3chr11

76572123

+THRSPchr11

77778705

+
5UTR-3UTRENST00000538157ENST00000281030ACER3chr11

76572123

+THRSPchr11

77778705

+
intron-3UTRENST00000544113ENST00000281030ACER3chr11

76572123

+THRSPchr11

77778705

+

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FusionProtFeatures for ACER3_THRSP


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ACER3

Q9NUN7

THRSP

Q92748

Hydrolyzes only phytoceramide into phytosphingosine andfree fatty acid. Does not have reverse activity. Plays a role in the regulation of lipogenesis,especially in lactating mammary gland. Important for thebiosynthesis of triglycerides with medium-length fatty acidchains. May modulate lipogenesis by interacting with MID1IP1 andpreventing its interaction with ACACA (By similarity). Mayfunction as transcriptional coactivator. May modulate thetranscription factor activity of THRB. {ECO:0000250,ECO:0000269|PubMed:17418816, ECO:0000269|PubMed:18299245}.

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 ACER3_THRSP


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 ACER3_THRSP


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
ACER3ELAVL1, MLH1THRSPTHRSP, AKT1, AURKA, BAG4, BCAR3, BRMS1, FZR1, ERBB2, FGFR4, HMMR, IGF1R, KRAS, LSP1, PALB2, PARP1, PIK3CA, PTPN1, RB1CC1, SMAD4, STK11, TGFB1, TSG101, WT1


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 ACER3_THRSP


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 ACER3_THRSP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACER3C0025202melanoma1CTD_human
TgeneTHRSPC0024667Animal Mammary Neoplasms1CTD_human
TgeneTHRSPC0024668Mammary Neoplasms, Experimental1CTD_human