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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:AKAP13-SERPINA1 (FusionGDB2 ID:HG11214TG5265)

Fusion Gene Summary for AKAP13-SERPINA1

check button Fusion gene summary
Fusion gene informationFusion gene name: AKAP13-SERPINA1
Fusion gene ID: hg11214tg5265
HgeneTgene
Gene symbol

AKAP13

SERPINA1

Gene ID

11214

5265

Gene nameA-kinase anchoring protein 13serpin family A member 1
SynonymsAKAP-13|AKAP-Lbc|ARHGEF13|BRX|HA-3|Ht31|LBC|PRKA13|PROTO-LB|PROTO-LBC|c-lbc|p47A1A|A1AT|AAT|PI|PI1|PRO2275|alpha1AT|nNIF
Cytomap('AKAP13')('SERPINA1')

15q25.3

14q32.13

Type of geneprotein-codingprotein-coding
DescriptionA-kinase anchor protein 13A kinase (PRKA) anchor protein 13LBC oncogenebreast cancer nuclear receptor-binding auxiliary proteinguanine nucleotide exchange factor Lbchuman thyroid-anchoring protein 31lymphoid blast crisis oncogenenon-oncogenic Rho Galpha-1-antitrypsinalpha-1 antitrypsinalpha-1 protease inhibitoralpha-1-antiproteinasealpha-1-antitrypsin nullalpha-1-antitrypsin short transcript variant 1C4alpha-1-antitrypsin short transcript variant 1C5epididymis secretory sperm binding protein
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000560302, ENST00000361243, 
ENST00000394510, ENST00000394518, 
ENST00000560579, 
Fusion gene scores* DoF score37 X 24 X 13=1154416 X 17 X 6=1632
# samples 4118
** MAII scorelog2(41/11544*10)=-4.81537548498575
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(18/1632*10)=-3.18057224564182
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AKAP13 [Title/Abstract] AND SERPINA1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAKAP13(86077413)-SERPINA1(94854940), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneAKAP13

GO:0007186

G protein-coupled receptor signaling pathway

11546812

HgeneAKAP13

GO:0035025

positive regulation of Rho protein signal transduction

11546812



check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand


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Fusion Gene ORF analysis for AKAP13-SERPINA1

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

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for AKAP13-SERPINA1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for AKAP13-SERPINA1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:86077413/:94854940)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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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Fusion Gene Sequence for AKAP13-SERPINA1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for AKAP13-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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Related Drugs for AKAP13-SERPINA1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for AKAP13-SERPINA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAKAP13C0007134Renal Cell Carcinoma1CTD_human
HgeneAKAP13C0014859Esophageal Neoplasms1CTD_human
HgeneAKAP13C0033578Prostatic Neoplasms1CTD_human
HgeneAKAP13C0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
HgeneAKAP13C0376358Malignant neoplasm of prostate1CTD_human
HgeneAKAP13C0546837Malignant neoplasm of esophagus1CTD_human
HgeneAKAP13C1266042Chromophobe Renal Cell Carcinoma1CTD_human
HgeneAKAP13C1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
HgeneAKAP13C1266044Collecting Duct Carcinoma of the Kidney1CTD_human
HgeneAKAP13C1306837Papillary Renal Cell Carcinoma1CTD_human
TgeneC0023895Liver diseases6CTD_human
TgeneC0086565Liver Dysfunction6CTD_human
TgeneC0221757alpha 1-Antitrypsin Deficiency6CTD_human;GENOMICS_ENGLAND
TgeneC0023890Liver Cirrhosis3CTD_human
TgeneC0239946Fibrosis, Liver3CTD_human
TgeneC0005586Bipolar Disorder2CTD_human;PSYGENET
TgeneC0024117Chronic Obstructive Airway Disease2CTD_human
TgeneC0030328Panniculitis, Nodular Nonsuppurative2CTD_human
TgeneC0525045Mood Disorders2PSYGENET
TgeneC1527303Chronic Airflow Obstruction2CTD_human
TgeneC2239176Liver carcinoma2CTD_human
TgeneC0001418Adenocarcinoma1CTD_human
TgeneC0003469Anxiety Disorders1CTD_human
TgeneC0003850Arteriosclerosis1CTD_human
TgeneC0003949Asbestosis1CTD_human
TgeneC0005587Depression, Bipolar1CTD_human
TgeneC0006267Bronchiectasis1CTD_human
TgeneC0008370Cholestasis1CTD_human
TgeneC0013221Drug toxicity1CTD_human
TgeneC0013990Pathological accumulation of air in tissues1CTD_human
TgeneC0019080Hemorrhage1CTD_human
TgeneC0019693HIV Infections1CTD_human
TgeneC0020615Hypoglycemia1CTD_human
TgeneC0022660Kidney Failure, Acute1CTD_human
TgeneC0024115Lung diseases1CTD_human;GENOMICS_ENGLAND
TgeneC0024121Lung Neoplasms1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0024713Manic Disorder1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0034067Pulmonary Emphysema1CTD_human
TgeneC0034069Pulmonary Fibrosis1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0039841Thiamine Deficiency1CTD_human
TgeneC0041755Adverse reaction to drug1CTD_human
TgeneC0042384Vasculitis1CTD_human
TgeneC0205641Adenocarcinoma, Basal Cell1CTD_human
TgeneC0205642Adenocarcinoma, Oxyphilic1CTD_human
TgeneC0205643Carcinoma, Cribriform1CTD_human
TgeneC0205644Carcinoma, Granular Cell1CTD_human
TgeneC0205645Adenocarcinoma, Tubular1CTD_human
TgeneC0221227Centriacinar Emphysema1CTD_human
TgeneC0242379Malignant neoplasm of lung1CTD_human
TgeneC0264393Panacinar Emphysema1CTD_human
TgeneC0270715Degenerative Diseases, Central Nervous System1CTD_human
TgeneC0271708Fasting Hypoglycemia1CTD_human
TgeneC0271710Reactive hypoglycemia1CTD_human
TgeneC0338831Manic1CTD_human
TgeneC0376280Anxiety States, Neurotic1CTD_human
TgeneC0524851Neurodegenerative Disorders1CTD_human
TgeneC0751733Degenerative Diseases, Spinal Cord1CTD_human
TgeneC1279420Anxiety neurosis (finding)1CTD_human
TgeneC1565662Acute Kidney Insufficiency1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC2350878Focal Emphysema1CTD_human
TgeneC2609414Acute kidney injury1CTD_human
TgeneC2930617Pulmonary Fibrosis - from Asbestos Exposure1CTD_human
TgeneC2930967Gastro-enteropancreatic neuroendocrine tumor1CTD_human
TgeneC4505456HIV Coinfection1CTD_human
TgeneC4721507Alveolitis, Fibrosing1CTD_human