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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: 35513

FusionGeneSummary for SPAG1_ANGPT1

check button Fusion gene summary
Fusion gene informationFusion gene name: SPAG1_ANGPT1
Fusion gene ID: 35513
HgeneTgene
Gene symbol

SPAG1

ANGPT1

Gene ID

6674

284

Gene namesperm associated antigen 1angiopoietin 1
SynonymsCILD28|CT140|HEL-S-268|HSD-3.8|SP75|TPISAGP1|AGPT|ANG1
Cytomap

8q22.2

8q23.1

Type of geneprotein-codingprotein-coding
Descriptionsperm-associated antigen 1TPR-containing protein involved in spermatogenesisepididymis secretory protein Li 268infertility-related sperm protein Spag-1tetratricopeptide repeat-containing proteinangiopoietin-1ANG-1
Modification date2018052220180519
UniProtAcc

Q07617

Q15389

Ensembl transtripts involved in fusion geneENST00000520643, ENST00000251809, 
ENST00000520508, ENST00000388798, 
ENST00000523302, 		ENST00000520052, 
ENST00000520734, ENST00000518386, 
Fusion gene scores* DoF score3 X 2 X 3=187 X 4 X 6=168
# samples 37
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SPAG1 [Title/Abstract] AND ANGPT1 [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
TgeneANGPT1

GO:0001936

regulation of endothelial cell proliferation

8980223

TgeneANGPT1

GO:0002040

sprouting angiogenesis

9560344|10218485

TgeneANGPT1

GO:0002092

positive regulation of receptor internalization

19424712

TgeneANGPT1

GO:0007162

negative regulation of cell adhesion

19674970

TgeneANGPT1

GO:0007171

activation of transmembrane receptor protein tyrosine kinase activity

19424712

TgeneANGPT1

GO:0010595

positive regulation of endothelial cell migration

12958144

TgeneANGPT1

GO:0014842

regulation of skeletal muscle satellite cell proliferation

19733541

TgeneANGPT1

GO:0030210

heparin biosynthetic process

19297368

TgeneANGPT1

GO:0031398

positive regulation of protein ubiquitination

19689429

TgeneANGPT1

GO:0034394

protein localization to cell surface

19615361

TgeneANGPT1

GO:0043066

negative regulation of apoptotic process

10218485|12958144

TgeneANGPT1

GO:0043116

negative regulation of vascular permeability

14978158|19297368

TgeneANGPT1

GO:0043536

positive regulation of blood vessel endothelial cell migration

9660821

TgeneANGPT1

GO:0048014

Tie signaling pathway

19689429|19922791

TgeneANGPT1

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

15851516|19689429

TgeneANGPT1

GO:0050918

positive chemotaxis

9660821

TgeneANGPT1

GO:0051897

positive regulation of protein kinase B signaling

18425120|19615361

TgeneANGPT1

GO:0070374

positive regulation of ERK1 and ERK2 cascade

18425120|19615361

TgeneANGPT1

GO:2000352

negative regulation of endothelial cell apoptotic process

19674970


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
TCGARVSARCTCGA-DX-AB2Z-01ASPAG1chr8

101245765

+ANGPT1chr8

108359325

-
* 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-intronENST00000520643ENST00000520052SPAG1chr8

101245765

+ANGPT1chr8

108359325

-
intron-intronENST00000520643ENST00000520734SPAG1chr8

101245765

+ANGPT1chr8

108359325

-
intron-intronENST00000520643ENST00000518386SPAG1chr8

101245765

+ANGPT1chr8

108359325

-
5CDS-intronENST00000251809ENST00000520052SPAG1chr8

101245765

+ANGPT1chr8

108359325

-
5CDS-intronENST00000251809ENST00000520734SPAG1chr8

101245765

+ANGPT1chr8

108359325

-
5CDS-intronENST00000251809ENST00000518386SPAG1chr8

101245765

+ANGPT1chr8

108359325

-
intron-intronENST00000520508ENST00000520052SPAG1chr8

101245765

+ANGPT1chr8

108359325

-
intron-intronENST00000520508ENST00000520734SPAG1chr8

101245765

+ANGPT1chr8

108359325

-
intron-intronENST00000520508ENST00000518386SPAG1chr8

101245765

+ANGPT1chr8

108359325

-
5CDS-intronENST00000388798ENST00000520052SPAG1chr8

101245765

+ANGPT1chr8

108359325

-
5CDS-intronENST00000388798ENST00000520734SPAG1chr8

101245765

+ANGPT1chr8

108359325

-
5CDS-intronENST00000388798ENST00000518386SPAG1chr8

101245765

+ANGPT1chr8

108359325

-
intron-intronENST00000523302ENST00000520052SPAG1chr8

101245765

+ANGPT1chr8

108359325

-
intron-intronENST00000523302ENST00000520734SPAG1chr8

101245765

+ANGPT1chr8

108359325

-
intron-intronENST00000523302ENST00000518386SPAG1chr8

101245765

+ANGPT1chr8

108359325

-

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FusionProtFeatures for SPAG1_ANGPT1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SPAG1

Q07617

ANGPT1

Q15389

May play a role in the cytoplasmic assembly of theciliary dynein arms (By similarity). May play a role infertilization. Binds GTP and has GTPase activity. {ECO:0000250,ECO:0000269|PubMed:11517287, ECO:0000269|PubMed:1299558}. Binds and activates TEK/TIE2 receptor by inducing itsdimerization and tyrosine phosphorylation. Plays an important rolein the regulation of angiogenesis, endothelial cell survival,proliferation, migration, adhesion and cell spreading,reorganization of the actin cytoskeleton, but also maintenance ofvascular quiescence. Required for normal angiogenesis and heartdevelopment during embryogenesis. After birth, activates orinhibits angiogenesis, depending on the context. Inhibitsangiogenesis and promotes vascular stability in quiescent vessels,where endothelial cells have tight contacts. In quiescent vessels,ANGPT1 oligomers recruit TEK to cell-cell contacts, formingcomplexes with TEK molecules from adjoining cells, and this leadsto preferential activation of phosphatidylinositol 3-kinase andthe AKT1 signaling cascades. In migrating endothelial cells thatlack cell-cell adhesions, ANGT1 recruits TEK to contacts with theextracellular matrix, leading to the formation of focal adhesioncomplexes, activation of PTK2/FAK and of the downstream kinasesMAPK1/ERK2 and MAPK3/ERK1, and ultimately to the stimulation ofsprouting angiogenesis. Mediates blood vesselmaturation/stability. Implicated in endothelial developmentalprocesses later and distinct from that of VEGF. Appears to play acrucial role in mediating reciprocal interactions between theendothelium and surrounding matrix and mesenchyme.{ECO:0000269|PubMed:15284220, ECO:0000269|PubMed:18425119,ECO:0000269|PubMed:18425120, ECO:0000269|PubMed:9204896}.

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 SPAG1_ANGPT1


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 SPAG1_ANGPT1


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
SPAG1PCNA, GNB1, UBC, MAGEA1, PRKCA, ATL3, LDHD, CDH1, BBX, C12orf45, PRPF38A, WDR92ANGPT1TEK, MAPK8IP2


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 SPAG1_ANGPT1


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 SPAG1_ANGPT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneANGPT1C0016059Fibrosis2CTD_human
TgeneANGPT1C0020564Hypertrophy1CTD_human
TgeneANGPT1C0021368Inflammation1CTD_human
TgeneANGPT1C0243026Sepsis1CTD_human