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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: 1088

FusionGeneSummary for AGAP9_SERPINA1

check button Fusion gene summary
Fusion gene informationFusion gene name: AGAP9_SERPINA1
Fusion gene ID: 1088
HgeneTgene
Gene symbol

AGAP9

SERPINA1

Gene ID

642517

5265

Gene nameArfGAP with GTPase domain, ankyrin repeat and PH domain 9serpin family A member 1
SynonymsAGAP-9|CTGLF6|bA301J7.2A1A|A1AT|AAT|PI|PI1|PRO2275|alpha1AT|nNIF
Cytomap

10q11.22

14q32.13

Type of geneprotein-codingprotein-coding
Descriptionarf-GAP with GTPase, ANK repeat and PH domain-containing protein 9centaurin-gamma-like family member 6alpha-1-antitrypsinalpha-1 antitrypsinalpha-1 protease inhibitoralpha-1-antiproteinasealpha-1-antitrypsin nullalpha-1-antitrypsin short transcript variant 1C4alpha-1-antitrypsin short transcript variant 1C5protease inhibitor 1 (anti-elastase), alph
Modification date2018052320180523
UniProtAcc

Q5VTM2

P01009

Ensembl transtripts involved in fusion geneENST00000453919, ENST00000456984, 
ENST00000440909, ENST00000448921, 
ENST00000437397, ENST00000355814, 
ENST00000393087, ENST00000393088, 
ENST00000404814, ENST00000449399, 
ENST00000402629, ENST00000555289, 
Fusion gene scores* DoF score1 X 1 X 1=19 X 9 X 3=243
# samples 113
** MAII scorelog2(1/1*10)=3.32192809488736log2(13/243*10)=-0.902444690577326
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AGAP9 [Title/Abstract] AND SERPINA1 [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
ChiTaRS3.1AF130068AGAP9chr10

48215940

-SERPINA1chr14

94854938

-
* 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-intronENST00000453919ENST00000440909AGAP9chr10

48215940

-SERPINA1chr14

94854938

-
5CDS-5UTRENST00000453919ENST00000448921AGAP9chr10

48215940

-SERPINA1chr14

94854938

-
5CDS-5UTRENST00000453919ENST00000437397AGAP9chr10

48215940

-SERPINA1chr14

94854938

-
5CDS-intronENST00000453919ENST00000355814AGAP9chr10

48215940

-SERPINA1chr14

94854938

-
5CDS-5UTRENST00000453919ENST00000393087AGAP9chr10

48215940

-SERPINA1chr14

94854938

-
5CDS-5UTRENST00000453919ENST00000393088AGAP9chr10

48215940

-SERPINA1chr14

94854938

-
5CDS-5UTRENST00000453919ENST00000404814AGAP9chr10

48215940

-SERPINA1chr14

94854938

-
5CDS-5UTRENST00000453919ENST00000449399AGAP9chr10

48215940

-SERPINA1chr14

94854938

-
5CDS-intronENST00000453919ENST00000402629AGAP9chr10

48215940

-SERPINA1chr14

94854938

-
5CDS-5UTRENST00000453919ENST00000555289AGAP9chr10

48215940

-SERPINA1chr14

94854938

-
5CDS-intronENST00000456984ENST00000440909AGAP9chr10

48215940

-SERPINA1chr14

94854938

-
5CDS-5UTRENST00000456984ENST00000448921AGAP9chr10

48215940

-SERPINA1chr14

94854938

-
5CDS-5UTRENST00000456984ENST00000437397AGAP9chr10

48215940

-SERPINA1chr14

94854938

-
5CDS-intronENST00000456984ENST00000355814AGAP9chr10

48215940

-SERPINA1chr14

94854938

-
5CDS-5UTRENST00000456984ENST00000393087AGAP9chr10

48215940

-SERPINA1chr14

94854938

-
5CDS-5UTRENST00000456984ENST00000393088AGAP9chr10

48215940

-SERPINA1chr14

94854938

-
5CDS-5UTRENST00000456984ENST00000404814AGAP9chr10

48215940

-SERPINA1chr14

94854938

-
5CDS-5UTRENST00000456984ENST00000449399AGAP9chr10

48215940

-SERPINA1chr14

94854938

-
5CDS-intronENST00000456984ENST00000402629AGAP9chr10

48215940

-SERPINA1chr14

94854938

-
5CDS-5UTRENST00000456984ENST00000555289AGAP9chr10

48215940

-SERPINA1chr14

94854938

-

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FusionProtFeatures for AGAP9_SERPINA1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AGAP9

Q5VTM2

SERPINA1

P01009

Putative GTPase-activating protein. {ECO:0000305}.

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 AGAP9_SERPINA1


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 AGAP9_SERPINA1


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 AGAP9_SERPINA1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneSERPINA1P01009DB01593ZincAlpha-1-antitrypsinsmall moleculeapproved|investigational

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RelatedDiseases for AGAP9_SERPINA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSERPINA1C0023895Liver diseases6CTD_human
TgeneSERPINA1C0023890Liver Cirrhosis3CTD_human
TgeneSERPINA1C0005586Bipolar Disorder2CTD_human;PSYGENET
TgeneSERPINA1C0024117Chronic Obstructive Airway Disease2CTD_human;HPO
TgeneSERPINA1C0030328Panniculitis, Nodular Nonsuppurative2CTD_human
TgeneSERPINA1C0221757alpha 1-Antitrypsin Deficiency2CTD_human;ORPHANET
TgeneSERPINA1C0525045Mood Disorders2PSYGENET
TgeneSERPINA1C2239176Liver carcinoma2CTD_human;HPO
TgeneSERPINA1C0001418Adenocarcinoma1CTD_human
TgeneSERPINA1C0003469Anxiety Disorders1CTD_human
TgeneSERPINA1C0003850Arteriosclerosis1CTD_human
TgeneSERPINA1C0003949Asbestosis1CTD_human
TgeneSERPINA1C0006267Bronchiectasis1CTD_human
TgeneSERPINA1C0008370Cholestasis1CTD_human
TgeneSERPINA1C0013990Pathological accumulation of air in tissues1CTD_human
TgeneSERPINA1C0019080Hemorrhage1CTD_human
TgeneSERPINA1C0019693HIV Infections1CTD_human
TgeneSERPINA1C0020615Hypoglycemia1CTD_human
TgeneSERPINA1C0024115Lung diseases1CTD_human
TgeneSERPINA1C0024121Lung Neoplasms1CTD_human
TgeneSERPINA1C0027627Neoplasm Metastasis1CTD_human
TgeneSERPINA1C0034067Pulmonary Emphysema1CTD_human;HPO
TgeneSERPINA1C0034069Pulmonary Fibrosis1CTD_human
TgeneSERPINA1C0038356Stomach Neoplasms1CTD_human
TgeneSERPINA1C0039841Thiamine Deficiency1CTD_human
TgeneSERPINA1C0042384Vasculitis1CTD_human
TgeneSERPINA1C0524851Neurodegenerative Disorders1CTD_human