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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: 451

FusionGeneSummary for ACP5_PSAP

check button Fusion gene summary
Fusion gene informationFusion gene name: ACP5_PSAP
Fusion gene ID: 451
HgeneTgene
Gene symbol

ACP5

PSAP

Gene ID

54

729238

Gene nameacid phosphatase 5, tartrate resistantsurfactant protein A2
SynonymsHPAP|TRACP5a|TRACP5b|TRAP|TrATPaseCOLEC5|PSAP|PSP-A|PSPA|SFTP1|SFTPA2B|SP-2A|SP-A|SPA2|SPAII
Cytomap

19p13.2

10q22.3

Type of geneprotein-codingprotein-coding
Descriptiontartrate-resistant acid phosphatase type 5human purple acid phosphatasetartrate-resistant acid ATPasetartrate-resistant acid phosphatase 5atartrate-resistant acid phosphatase 5bpulmonary surfactant-associated protein A235 kDa pulmonary surfactant-associated proteinalveolar proteinosis proteincollectin 5surfactant, pulmonary-associated protein A2A
Modification date2018052720180523
UniProtAcc

P13686

P07602

Ensembl transtripts involved in fusion geneENST00000218758, ENST00000412435, 
ENST00000592828, ENST00000433365, 
ENST00000590420, 
ENST00000394936, 
ENST00000394934, 
Fusion gene scores* DoF score2 X 2 X 2=812 X 17 X 4=816
# samples 218
** MAII scorelog2(2/8*10)=1.32192809488736log2(18/816*10)=-2.18057224564182
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACP5 [Title/Abstract] AND PSAP [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
ChiTaRS3.1AW608472ACP5chr19

11688133

+PSAPchr10

73587814

+
* 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-3CDSENST00000218758ENST00000394936ACP5chr19

11688133

+PSAPchr10

73587814

+
intron-3CDSENST00000218758ENST00000394934ACP5chr19

11688133

+PSAPchr10

73587814

+
intron-3CDSENST00000412435ENST00000394936ACP5chr19

11688133

+PSAPchr10

73587814

+
intron-3CDSENST00000412435ENST00000394934ACP5chr19

11688133

+PSAPchr10

73587814

+
intron-3CDSENST00000592828ENST00000394936ACP5chr19

11688133

+PSAPchr10

73587814

+
intron-3CDSENST00000592828ENST00000394934ACP5chr19

11688133

+PSAPchr10

73587814

+
intron-3CDSENST00000433365ENST00000394936ACP5chr19

11688133

+PSAPchr10

73587814

+
intron-3CDSENST00000433365ENST00000394934ACP5chr19

11688133

+PSAPchr10

73587814

+
intron-3CDSENST00000590420ENST00000394936ACP5chr19

11688133

+PSAPchr10

73587814

+
intron-3CDSENST00000590420ENST00000394934ACP5chr19

11688133

+PSAPchr10

73587814

+

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FusionProtFeatures for ACP5_PSAP


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ACP5

P13686

PSAP

P07602

Involved in osteopontin/bone sialoproteindephosphorylation. Its expression seems to increase in certainpathological states such as Gaucher and Hodgkin diseases, thehairy cell, the B-cell, and the T-cell leukemias.

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 ACP5_PSAP


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 ACP5_PSAP


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 ACP5_PSAP


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneACP5P13686DB02325Isopropyl AlcoholTartrate-resistant acid phosphatase type 5small moleculeapproved|investigational

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RelatedDiseases for ACP5_PSAP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACP5C0020503Hyperparathyroidism, Secondary2CTD_human
HgeneACP5C0432222Spondyloenchondrodysplasia2CTD_human;ORPHANET
HgeneACP5C1842763SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION2UNIPROT
HgeneACP5C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneACP5C0028754Obesity1CTD_human
TgenePSAPC0268262Metachromatic Leukodystrophy due to Saposin B Deficiency5CTD_human;UNIPROT
TgenePSAPC1864651GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY2CTD_human;ORPHANET;UNIPROT