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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: 33273

FusionGeneSummary for SERPINA1_ANKS1A

check button Fusion gene summary
Fusion gene informationFusion gene name: SERPINA1_ANKS1A
Fusion gene ID: 33273
HgeneTgene
Gene symbol

SERPINA1

ANKS1A

Gene ID

5265

23294

Gene nameserpin family A member 1ankyrin repeat and sterile alpha motif domain containing 1A
SynonymsA1A|A1AT|AAT|PI|PI1|PRO2275|alpha1AT|nNIFANKS1
Cytomap

14q32.13

6p21.31

Type of geneprotein-codingprotein-coding
Descriptionalpha-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), alphankyrin repeat and SAM domain-containing protein 1AOdinankyrin repeat and SAM domain containing 1
Modification date2018052320180522
UniProtAcc

P01009

Q92625

Ensembl transtripts involved in fusion geneENST00000440909, ENST00000448921, 
ENST00000437397, ENST00000355814, 
ENST00000393087, ENST00000393088, 
ENST00000404814, ENST00000449399, 
ENST00000402629, ENST00000555289, 
ENST00000360359, ENST00000535627, 
ENST00000470698, 
Fusion gene scores* DoF score21 X 14 X 3=88226 X 6 X 14=2184
# samples 3128
** MAII scorelog2(31/882*10)=-1.50851044028328
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(28/2184*10)=-2.96347412397489
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SERPINA1 [Title/Abstract] AND ANKS1A [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
TCGARVLUADTCGA-50-6673-01ASERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
* 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-intronENST00000440909ENST00000360359SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000440909ENST00000535627SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000440909ENST00000470698SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000448921ENST00000360359SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000448921ENST00000535627SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000448921ENST00000470698SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000437397ENST00000360359SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000437397ENST00000535627SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000437397ENST00000470698SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000355814ENST00000360359SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000355814ENST00000535627SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000355814ENST00000470698SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
5CDS-intronENST00000393087ENST00000360359SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
5CDS-intronENST00000393087ENST00000535627SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
5CDS-intronENST00000393087ENST00000470698SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000393088ENST00000360359SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000393088ENST00000535627SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000393088ENST00000470698SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000404814ENST00000360359SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000404814ENST00000535627SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000404814ENST00000470698SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000449399ENST00000360359SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000449399ENST00000535627SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000449399ENST00000470698SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000402629ENST00000360359SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000402629ENST00000535627SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000402629ENST00000470698SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000555289ENST00000360359SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000555289ENST00000535627SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+
intron-intronENST00000555289ENST00000470698SERPINA1chr14

94844686

-ANKS1Achr6

34977682

+

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FusionProtFeatures for SERPINA1_ANKS1A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SERPINA1

P01009

ANKS1A

Q92625

Regulator of different signaling pathways. RegulatesEPHA8 receptor tyrosine kinase signaling to control cell migrationand neurite retraction (By similarity). {ECO:0000250,ECO:0000269|PubMed:17875921}.

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 SERPINA1_ANKS1A


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 SERPINA1_ANKS1A


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
SERPINA1KLK3, ELANE, PRTN3, MIS12, RAP2A, DERL2, DERL1, VCP, OS9, ERLEC1, VKORC1, SSR1, CANX, FN1, ATP5C1, GSDMB, SMAD4, ECHS1, SDC2, RCHY1, LAMTOR5, CA8, GDPD1, DDX19B, ZNF558, ICE2, ALDH2, PLK2, HSPA5, FBXO2, SYVN1, SQSTM1, DDX31, MAPK6, SNX27, GOT1L1, HSPA8, UPF3AANKS1AYWHAG, SFN, UBC, EPHA8, EGFR, ERBB2, ERBB4, BAG3, YWHAB, DNPEP, PACSIN2, PTPN12, TRIM47, DEF6, PIK3R3, ARHGAP10, DOK3, KLF15, NHLRC2, TRIT1, RANBP3, RB1, SMARCD1, RIN1, DAB2IP, HIF1AN, TRIM25


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 SERPINA1_ANKS1A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneSERPINA1P01009DB01593ZincAlpha-1-antitrypsinsmall moleculeapproved|investigational

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RelatedDiseases for SERPINA1_ANKS1A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSERPINA1C0023895Liver diseases6CTD_human
HgeneSERPINA1C0023890Liver Cirrhosis3CTD_human
HgeneSERPINA1C0005586Bipolar Disorder2CTD_human;PSYGENET
HgeneSERPINA1C0024117Chronic Obstructive Airway Disease2CTD_human;HPO
HgeneSERPINA1C0030328Panniculitis, Nodular Nonsuppurative2CTD_human
HgeneSERPINA1C0221757alpha 1-Antitrypsin Deficiency2CTD_human;ORPHANET
HgeneSERPINA1C0525045Mood Disorders2PSYGENET
HgeneSERPINA1C2239176Liver carcinoma2CTD_human;HPO
HgeneSERPINA1C0001418Adenocarcinoma1CTD_human
HgeneSERPINA1C0003469Anxiety Disorders1CTD_human
HgeneSERPINA1C0003850Arteriosclerosis1CTD_human
HgeneSERPINA1C0003949Asbestosis1CTD_human
HgeneSERPINA1C0006267Bronchiectasis1CTD_human
HgeneSERPINA1C0008370Cholestasis1CTD_human
HgeneSERPINA1C0013990Pathological accumulation of air in tissues1CTD_human
HgeneSERPINA1C0019080Hemorrhage1CTD_human
HgeneSERPINA1C0019693HIV Infections1CTD_human
HgeneSERPINA1C0020615Hypoglycemia1CTD_human
HgeneSERPINA1C0024115Lung diseases1CTD_human
HgeneSERPINA1C0024121Lung Neoplasms1CTD_human
HgeneSERPINA1C0027627Neoplasm Metastasis1CTD_human
HgeneSERPINA1C0034067Pulmonary Emphysema1CTD_human;HPO
HgeneSERPINA1C0034069Pulmonary Fibrosis1CTD_human
HgeneSERPINA1C0038356Stomach Neoplasms1CTD_human
HgeneSERPINA1C0039841Thiamine Deficiency1CTD_human
HgeneSERPINA1C0042384Vasculitis1CTD_human
HgeneSERPINA1C0524851Neurodegenerative Disorders1CTD_human
TgeneANKS1AC1956346Coronary Artery Disease1CTD_human