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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: 33271

FusionGeneSummary for SERPINA1_AGXT2

check button Fusion gene summary
Fusion gene informationFusion gene name: SERPINA1_AGXT2
Fusion gene ID: 33271
HgeneTgene
Gene symbol

SERPINA1

AGXT2

Gene ID

5265

64902

Gene nameserpin family A member 1alanine--glyoxylate aminotransferase 2
SynonymsA1A|A1AT|AAT|PI|PI1|PRO2275|alpha1AT|nNIFAGT2|BAIBA|DAIBAT
Cytomap

14q32.13

5p13.2

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), alphalanine--glyoxylate aminotransferase 2, mitochondrial(R)-3-amino-2-methylpropionate--pyruvate transaminasebeta-ALAAT IIbeta-alanine-pyruvate aminotransferase
Modification date2018052320180523
UniProtAcc

P01009

Q9BYV1

Ensembl transtripts involved in fusion geneENST00000440909, ENST00000448921, 
ENST00000437397, ENST00000355814, 
ENST00000393087, ENST00000393088, 
ENST00000404814, ENST00000449399, 
ENST00000402629, ENST00000555289, 
ENST00000231420, 
Fusion gene scores* DoF score21 X 14 X 3=8825 X 3 X 4=60
# samples 315
** MAII scorelog2(31/882*10)=-1.50851044028328
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SERPINA1 [Title/Abstract] AND AGXT2 [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
TgeneAGXT2

GO:0009436

glyoxylate catabolic process

20018850

TgeneAGXT2

GO:0019265

glycine biosynthetic process, by transamination of glyoxylate

20018850

TgeneAGXT2

GO:0019481

L-alanine catabolic process, by transamination

20018850

TgeneAGXT2

GO:0045429

positive regulation of nitric oxide biosynthetic process

20018850


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
ChiTaRS3.1AF121182SERPINA1chr14

94848980

-AGXT2chr5

35025960

-
* 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-3CDSENST00000440909ENST00000231420SERPINA1chr14

94848980

-AGXT2chr5

35025960

-
intron-3CDSENST00000448921ENST00000231420SERPINA1chr14

94848980

-AGXT2chr5

35025960

-
intron-3CDSENST00000437397ENST00000231420SERPINA1chr14

94848980

-AGXT2chr5

35025960

-
intron-3CDSENST00000355814ENST00000231420SERPINA1chr14

94848980

-AGXT2chr5

35025960

-
intron-3CDSENST00000393087ENST00000231420SERPINA1chr14

94848980

-AGXT2chr5

35025960

-
intron-3CDSENST00000393088ENST00000231420SERPINA1chr14

94848980

-AGXT2chr5

35025960

-
intron-3CDSENST00000404814ENST00000231420SERPINA1chr14

94848980

-AGXT2chr5

35025960

-
intron-3CDSENST00000449399ENST00000231420SERPINA1chr14

94848980

-AGXT2chr5

35025960

-
intron-3CDSENST00000402629ENST00000231420SERPINA1chr14

94848980

-AGXT2chr5

35025960

-
intron-3CDSENST00000555289ENST00000231420SERPINA1chr14

94848980

-AGXT2chr5

35025960

-

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FusionProtFeatures for SERPINA1_AGXT2


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

P01009

AGXT2

Q9BYV1

Can metabolize asymmetric dimethylarginine (ADMA) viatransamination to alpha-keto-delta-(NN-dimethylguanidino) valericacid (DMGV). ADMA is a potent inhibitor of nitric-oxide (NO)synthase, and this activity provides mechanism through which thekidney regulates blood pressure. {ECO:0000269|PubMed:20018850,ECO:0000269|PubMed:23023372, ECO:0000269|PubMed:24586340}.

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_AGXT2


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_AGXT2


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 SERPINA1_AGXT2


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
TgeneAGXT2Q9BYV1DB00114Pyridoxal PhosphateAlanine--glyoxylate aminotransferase 2, mitochondrialsmall moleculeapproved|investigational|nutraceutical
TgeneAGXT2Q9BYV1DB00145GlycineAlanine--glyoxylate aminotransferase 2, mitochondrialsmall moleculeapproved|nutraceutical|vet_approved

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RelatedDiseases for SERPINA1_AGXT2


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
TgeneAGXT2C0025521Inborn Errors of Metabolism1CTD_human
TgeneAGXT2C0036341Schizophrenia1PSYGENET