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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: 29047

FusionGeneSummary for PSAP_FOXP1

check button Fusion gene summary
Fusion gene informationFusion gene name: PSAP_FOXP1
Fusion gene ID: 29047
HgeneTgene
Gene symbol

PSAP

FOXP1

Gene ID

729238

27086

Gene namesurfactant protein A2forkhead box P1
SynonymsCOLEC5|PSAP|PSP-A|PSPA|SFTP1|SFTPA2B|SP-2A|SP-A|SPA2|SPAII12CC4|HSPC215|MFH|QRF1|hFKH1B
Cytomap

10q22.3

3p13

Type of geneprotein-codingprotein-coding
Descriptionpulmonary surfactant-associated protein A235 kDa pulmonary surfactant-associated proteinalveolar proteinosis proteincollectin 5surfactant, pulmonary-associated protein A2Aforkhead box protein P1fork head-related protein like Bglutamine-rich factor 1mac-1-regulated forkhead
Modification date2018052320180522
UniProtAcc

P07602

Q9H334

Ensembl transtripts involved in fusion geneENST00000394936, ENST00000394934, 
ENST00000318789, ENST00000475937, 
ENST00000493089, ENST00000484350, 
ENST00000318779, ENST00000491238, 
ENST00000498215, ENST00000468577, 
ENST00000472382, 
Fusion gene scores* DoF score32 X 20 X 10=640037 X 16 X 17=10064
# samples 3740
** MAII scorelog2(37/6400*10)=-4.11247472925841
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(40/10064*10)=-4.65306001710456
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PSAP [Title/Abstract] AND FOXP1 [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
TgeneFOXP1

GO:0002903

negative regulation of B cell apoptotic process

25267198

TgeneFOXP1

GO:0030316

osteoclast differentiation

18799727

TgeneFOXP1

GO:0032496

response to lipopolysaccharide

18799727

TgeneFOXP1

GO:0032680

regulation of tumor necrosis factor production

18799727

TgeneFOXP1

GO:0035926

chemokine (C-C motif) ligand 2 secretion

18799727

TgeneFOXP1

GO:0036035

osteoclast development

18799727

TgeneFOXP1

GO:0042116

macrophage activation

18799727

TgeneFOXP1

GO:0042117

monocyte activation

18799727

TgeneFOXP1

GO:0045655

regulation of monocyte differentiation

15286807

TgeneFOXP1

GO:0045892

negative regulation of transcription, DNA-templated

20950788

TgeneFOXP1

GO:0050706

regulation of interleukin-1 beta secretion

18799727

TgeneFOXP1

GO:0050727

regulation of inflammatory response

18799727

TgeneFOXP1

GO:0060766

negative regulation of androgen receptor signaling pathway

18640093

TgeneFOXP1

GO:1900424

regulation of defense response to bacterium

18799727

TgeneFOXP1

GO:1901256

regulation of macrophage colony-stimulating factor production

18799727

TgeneFOXP1

GO:2001182

regulation of interleukin-12 secretion

18799727


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
TCGARVLUADTCGA-55-7995-01APSAPchr10

73576307

-FOXP1chr3

71007472

-
* 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-3UTRENST00000394936ENST00000318789PSAPchr10

73576307

-FOXP1chr3

71007472

-
intron-3UTRENST00000394936ENST00000475937PSAPchr10

73576307

-FOXP1chr3

71007472

-
intron-intronENST00000394936ENST00000493089PSAPchr10

73576307

-FOXP1chr3

71007472

-
intron-intronENST00000394936ENST00000484350PSAPchr10

73576307

-FOXP1chr3

71007472

-
intron-intronENST00000394936ENST00000318779PSAPchr10

73576307

-FOXP1chr3

71007472

-
intron-intronENST00000394936ENST00000491238PSAPchr10

73576307

-FOXP1chr3

71007472

-
intron-intronENST00000394936ENST00000498215PSAPchr10

73576307

-FOXP1chr3

71007472

-
intron-intronENST00000394936ENST00000468577PSAPchr10

73576307

-FOXP1chr3

71007472

-
intron-intronENST00000394936ENST00000472382PSAPchr10

73576307

-FOXP1chr3

71007472

-
intron-3UTRENST00000394934ENST00000318789PSAPchr10

73576307

-FOXP1chr3

71007472

-
intron-3UTRENST00000394934ENST00000475937PSAPchr10

73576307

-FOXP1chr3

71007472

-
intron-intronENST00000394934ENST00000493089PSAPchr10

73576307

-FOXP1chr3

71007472

-
intron-intronENST00000394934ENST00000484350PSAPchr10

73576307

-FOXP1chr3

71007472

-
intron-intronENST00000394934ENST00000318779PSAPchr10

73576307

-FOXP1chr3

71007472

-
intron-intronENST00000394934ENST00000491238PSAPchr10

73576307

-FOXP1chr3

71007472

-
intron-intronENST00000394934ENST00000498215PSAPchr10

73576307

-FOXP1chr3

71007472

-
intron-intronENST00000394934ENST00000468577PSAPchr10

73576307

-FOXP1chr3

71007472

-
intron-intronENST00000394934ENST00000472382PSAPchr10

73576307

-FOXP1chr3

71007472

-

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FusionProtFeatures for PSAP_FOXP1


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

P07602

FOXP1

Q9H334


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 PSAP_FOXP1


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 PSAP_FOXP1


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
PSAPCELSR1, SGK223, MAFF, COPS6, CTSD, PSAP, UBE3A, ZBED1, USP4, TCERG1, SMARCC2, SAP18, PLAUR, SNAP23, NUP133, DNAJA1, SURF4, GDAP1, U2AF1, SNRPA1, SUMO2, SNCA, SRSF5, SSR1, THRAP3, BRCA1, SMAD9, SMAD2, CFTR, FBXO6, BAG3, BCAT1, C1QBP, GTF2F1, LAMB2, MVP, USP48, VPS29, VPS35, ERBB2, NLGN3, SOD1FOXP1CTBP1, FOXP1, FOXP2, FOXP4, GATAD2B, MTA1, NCOR2, ELAVL1, MYC, IL3RA, CCDC183, UNK, RCC1, HOXD13, QSER1, SATB1, SATB2, CTBP2, MYH10, LIG3, C10orf2, CUX1, VRK3, XRCC1, CHD1L, RPA2, BLM, MRE11A, MYL12B, TBP, TP53, TTF2, ZBTB10, MYL9, RPA3, TFCP2, TOP2A, UBP1, FOXP3, AURKA, SNRNP70


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 PSAP_FOXP1


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 PSAP_FOXP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePSAPC0268262Metachromatic Leukodystrophy due to Saposin B Deficiency5CTD_human;UNIPROT
HgenePSAPC1864651GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY2CTD_human;ORPHANET;UNIPROT
TgeneFOXP1C0024232Lymphatic Metastasis1CTD_human
TgeneFOXP1C0027626Neoplasm Invasiveness1CTD_human
TgeneFOXP1C0030297Pancreatic Neoplasm1CTD_human
TgeneFOXP1C0042900Vitiligo1CTD_human
TgeneFOXP1C0279628Adenocarcinoma Of Esophagus1CTD_human
TgeneFOXP1C1510586Autism Spectrum Disorders1CTD_human
TgeneFOXP1C3495559Juvenile arthritis1CTD_human
TgeneFOXP1C4013764MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES1CTD_human;ORPHANET;UNIPROT