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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:AMBRA1-CAT (FusionGDB2 ID:HG55626TG847)

Fusion Gene Summary for AMBRA1-CAT

check button Fusion gene summary
Fusion gene informationFusion gene name: AMBRA1-CAT
Fusion gene ID: hg55626tg847
HgeneTgene
Gene symbol

AMBRA1

CAT

Gene ID

55626

847

Gene nameautophagy and beclin 1 regulator 1catalase
SynonymsDCAF3|WDR94-
Cytomap('AMBRA1')('CAT')

11p11.2

11p13

Type of geneprotein-codingprotein-coding
Descriptionactivating molecule in BECN1-regulated autophagy protein 1DDB1 and CUL4 associated factor 3WD repeat domain 94activating molecule in beclin-1-regulated autophagyautophagy/beclin-1 regulator 1catalaseepididymis secretory sperm binding protein
Modification date2020031320200313
UniProtAcc.

P04040

Ensembl transtripts involved in fusion geneENST00000528950, ENST00000533727, 
ENST00000534300, ENST00000298834, 
ENST00000314845, ENST00000426438, 
ENST00000458649, ENST00000529963, 
Fusion gene scores* DoF score20 X 11 X 10=220014 X 11 X 8=1232
# samples 2618
** MAII scorelog2(26/2200*10)=-3.08091999538357
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(18/1232*10)=-2.77493344436523
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AMBRA1 [Title/Abstract] AND CAT [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAMBRA1(46615378)-CAT(34470739), # samples:3
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
HgeneAMBRA1

GO:0000423

mitophagy

21753002

HgeneAMBRA1

GO:0043552

positive regulation of phosphatidylinositol 3-kinase activity

21753002

HgeneAMBRA1

GO:0098780

response to mitochondrial depolarisation

21753002

TgeneCAT

GO:0042744

hydrogen peroxide catabolic process

18379038



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
ChimerDB4STADTCGA-R5-A7ZE-01BAMBRA1chr11

46615378

-CATchr11

34470739

+


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Fusion Gene ORF analysis for AMBRA1-CAT

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
5UTR-3CDSENST00000528950ENST00000241052AMBRA1chr11

46615378

-CATchr11

34470739

+
5UTR-3CDSENST00000533727ENST00000241052AMBRA1chr11

46615378

-CATchr11

34470739

+
5UTR-3CDSENST00000534300ENST00000241052AMBRA1chr11

46615378

-CATchr11

34470739

+
5UTR-intronENST00000528950ENST00000534710AMBRA1chr11

46615378

-CATchr11

34470739

+
5UTR-intronENST00000533727ENST00000534710AMBRA1chr11

46615378

-CATchr11

34470739

+
5UTR-intronENST00000534300ENST00000534710AMBRA1chr11

46615378

-CATchr11

34470739

+
intron-3CDSENST00000298834ENST00000241052AMBRA1chr11

46615378

-CATchr11

34470739

+
intron-3CDSENST00000314845ENST00000241052AMBRA1chr11

46615378

-CATchr11

34470739

+
intron-3CDSENST00000426438ENST00000241052AMBRA1chr11

46615378

-CATchr11

34470739

+
intron-3CDSENST00000458649ENST00000241052AMBRA1chr11

46615378

-CATchr11

34470739

+
intron-3CDSENST00000529963ENST00000241052AMBRA1chr11

46615378

-CATchr11

34470739

+
intron-intronENST00000298834ENST00000534710AMBRA1chr11

46615378

-CATchr11

34470739

+
intron-intronENST00000314845ENST00000534710AMBRA1chr11

46615378

-CATchr11

34470739

+
intron-intronENST00000426438ENST00000534710AMBRA1chr11

46615378

-CATchr11

34470739

+
intron-intronENST00000458649ENST00000534710AMBRA1chr11

46615378

-CATchr11

34470739

+
intron-intronENST00000529963ENST00000534710AMBRA1chr11

46615378

-CATchr11

34470739

+

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 AMBRA1-CAT


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)
AMBRA1chr1146615377-CATchr1134470738+1.85E-060.9999981
AMBRA1chr1146615377-CATchr1134470738+1.85E-060.9999981


check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for AMBRA1-CAT


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/:46615378/:34470739)
- 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
.CAT

P04040

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: Occurs in almost all aerobically respiring organisms and serves to protect cells from the toxic effects of hydrogen peroxide. Promotes growth of cells including T-cells, B-cells, myeloid leukemia cells, melanoma cells, mastocytoma cells and normal and transformed fibroblast cells. {ECO:0000269|PubMed:7882369}.

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 AMBRA1-CAT


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 AMBRA1-CAT


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 AMBRA1-CAT


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCATP04040DB09061CannabidiolInhibitorSmall moleculeApproved|Investigational
TgeneCATP04040DB01213FomepizoleInhibitorSmall moleculeApproved|Vet_approved

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Related Diseases for AMBRA1-CAT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAMBRA1C0036341Schizophrenia1PSYGENET
TgeneC0268419Acatalasia7CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0007621Neoplastic Cell Transformation6CTD_human
TgeneC0752048Hypocatalasemia5CTD_human
TgeneC2931868Catalase deficiency5CTD_human;ORPHANET
TgeneC2936847Acatalasemia Japanese type5CTD_human
TgeneC2936848Acatalasemia Swiss type5CTD_human
TgeneC0020538Hypertensive disease4CTD_human
TgeneC0035126Reperfusion Injury4CTD_human
TgeneC0038220Status Epilepticus4CTD_human
TgeneC0270823Petit mal status4CTD_human
TgeneC0311335Grand Mal Status Epilepticus4CTD_human
TgeneC0393734Complex Partial Status Epilepticus4CTD_human
TgeneC0751522Status Epilepticus, Subclinical4CTD_human
TgeneC0751523Non-Convulsive Status Epilepticus4CTD_human
TgeneC0751524Simple Partial Status Epilepticus4CTD_human
TgeneC0002152Alloxan Diabetes3CTD_human
TgeneC0011853Diabetes Mellitus, Experimental3CTD_human
TgeneC0022333Jacksonian Seizure3CTD_human
TgeneC0027627Neoplasm Metastasis3CTD_human
TgeneC0036572Seizures3CTD_human
TgeneC0038433Streptozotocin Diabetes3CTD_human
TgeneC0149958Complex partial seizures3CTD_human
TgeneC0234533Generalized seizures3CTD_human
TgeneC0234535Clonic Seizures3CTD_human
TgeneC0235874Disease Exacerbation3CTD_human
TgeneC0270824Visual seizure3CTD_human
TgeneC0270844Tonic Seizures3CTD_human
TgeneC0270846Epileptic drop attack3CTD_human
TgeneC0422850Seizures, Somatosensory3CTD_human
TgeneC0422852Seizures, Auditory3CTD_human
TgeneC0422853Olfactory seizure3CTD_human
TgeneC0422854Gustatory seizure3CTD_human
TgeneC0422855Vertiginous seizure3CTD_human
TgeneC0494475Tonic - clonic seizures3CTD_human
TgeneC0751056Non-epileptic convulsion3CTD_human
TgeneC0751110Single Seizure3CTD_human
TgeneC0751123Atonic Absence Seizures3CTD_human
TgeneC0751494Convulsive Seizures3CTD_human
TgeneC0751495Seizures, Focal3CTD_human
TgeneC0751496Seizures, Sensory3CTD_human
TgeneC3495874Nonepileptic Seizures3CTD_human
TgeneC4048158Convulsions3CTD_human
TgeneC4316903Absence Seizures3CTD_human
TgeneC4317109Epileptic Seizures3CTD_human
TgeneC4317123Myoclonic Seizures3CTD_human
TgeneC4505436Generalized Absence Seizures3CTD_human
TgeneC0000771Abnormalities, Drug-Induced2CTD_human
TgeneC0001973Alcoholic Intoxication, Chronic2PSYGENET
TgeneC0011860Diabetes Mellitus, Non-Insulin-Dependent2CTD_human
TgeneC0019193Hepatitis, Toxic2CTD_human
TgeneC0022661Kidney Failure, Chronic2CTD_human
TgeneC0027540Necrosis2CTD_human
TgeneC0027626Neoplasm Invasiveness2CTD_human
TgeneC0860207Drug-Induced Liver Disease2CTD_human
TgeneC1262760Hepatitis, Drug-Induced2CTD_human
TgeneC1269683Major Depressive Disorder2CTD_human;PSYGENET
TgeneC3658290Drug-Induced Acute Liver Injury2CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury2CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity2CTD_human
TgeneC0003493Aortic Diseases1CTD_human
TgeneC0003865Arthritis, Adjuvant-Induced1CTD_human
TgeneC0003873Rheumatoid Arthritis1CTD_human
TgeneC0004045Asphyxia Neonatorum1CTD_human
TgeneC0004096Asthma1CTD_human
TgeneC0004352Autistic Disorder1CTD_human
TgeneC0004943Behcet Syndrome1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0006826Malignant Neoplasms1CTD_human
TgeneC0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneC0007786Brain Ischemia1CTD_human
TgeneC0008370Cholestasis1CTD_human
TgeneC0008909Claustrophobia1CTD_human
TgeneC0011574Involutional Depression1CTD_human
TgeneC0011849Diabetes Mellitus1CTD_human
TgeneC0011854Diabetes Mellitus, Insulin-Dependent1CTD_human
TgeneC0011882Diabetic Neuropathies1CTD_human
TgeneC0013386Dyskinesia, Drug-Induced1CTD_human
TgeneC0013604Edema1CTD_human
TgeneC0015695Fatty Liver1CTD_human
TgeneC0015923Fetal Alcohol Syndrome1CTD_human
TgeneC0017638Glioma1CTD_human
TgeneC0018801Heart failure1CTD_human
TgeneC0018802Congestive heart failure1CTD_human
TgeneC0019158Hepatitis1CTD_human
TgeneC0019189Hepatitis, Chronic1CTD_human
TgeneC0020452Hyperemia1CTD_human
TgeneC0020550Hyperthyroidism1CTD_human
TgeneC0020649Hypotension1CTD_human
TgeneC0022593Keratosis1CTD_human
TgeneC0022594Keratosis Blennorrhagica1CTD_human
TgeneC0022650Kidney Calculi1CTD_human
TgeneC0023212Left-Sided Heart Failure1CTD_human
TgeneC0023891Liver Cirrhosis, Alcoholic1CTD_human
TgeneC0024141Lupus Erythematosus, Systemic1CTD_human
TgeneC0024796Marfan Syndrome1CTD_human
TgeneC0025500Mesothelioma1CTD_human
TgeneC0027051Myocardial Infarction1CTD_human
TgeneC0027055Myocardial Reperfusion Injury1CTD_human
TgeneC0027651Neoplasms1CTD_human
TgeneC0029458Osteoporosis, Postmenopausal1CTD_human
TgeneC0030246Pustulosis of Palms and Soles1CTD_human
TgeneC0032927Precancerous Conditions1CTD_human
TgeneC0033141Cardiomyopathies, Primary1CTD_human
TgeneC0033626Protein Deficiency1CTD_human
TgeneC0033860Psoriasis1CTD_human
TgeneC0034063Pulmonary Edema1CTD_human
TgeneC0034065Pulmonary Embolism1CTD_human
TgeneC0034069Pulmonary Fibrosis1CTD_human
TgeneC0036529Myocardial Diseases, Secondary1CTD_human
TgeneC0038358Gastric ulcer1CTD_human
TgeneC0041408Turner Syndrome1CTD_human
TgeneC0041696Unipolar Depression1PSYGENET
TgeneC0042484Venous Engorgement1CTD_human
TgeneC0079744Diffuse Large B-Cell Lymphoma1CTD_human
TgeneC0086501Keratoma1CTD_human
TgeneC0086692Benign Neoplasm1CTD_human
TgeneC0149519Chronic Persistent Hepatitis1CTD_human
TgeneC0151526Premature Birth1CTD_human
TgeneC0151603Anasarca1CTD_human
TgeneC0178824Reactive Hyperemia1CTD_human
TgeneC0205734Diabetes, Autoimmune1CTD_human
TgeneC0235527Heart Failure, Right-Sided1CTD_human
TgeneC0242380Libman-Sacks Disease1CTD_human
TgeneC0242488Acute Lung Injury1CTD_human
TgeneC0242526Gonadal Dysgenesis, 45,X1CTD_human
TgeneC0259783mixed gliomas1CTD_human
TgeneC0271673Symmetric Diabetic Proximal Motor Neuropathy1CTD_human
TgeneC0271674Asymmetric Diabetic Proximal Motor Neuropathy1CTD_human
TgeneC0271678Diabetic Mononeuropathy1CTD_human
TgeneC0271680Diabetic Polyneuropathies1CTD_human
TgeneC0271685Diabetic Amyotrophy1CTD_human
TgeneC0271686Diabetic Autonomic Neuropathy1CTD_human
TgeneC0282313Condition, Preneoplastic1CTD_human
TgeneC0333233Active Hyperemia1CTD_human
TgeneC0333704Chromosome Breaks1CTD_human
TgeneC0342302Brittle diabetes1CTD_human
TgeneC0349231Phobic anxiety disorder1CTD_human
TgeneC0376628Chromosome Breakage1CTD_human
TgeneC0393835Diabetic Asymmetric Polyneuropathy1CTD_human
TgeneC0400966Non-alcoholic Fatty Liver Disease1CTD_human
TgeneC0520463Chronic active hepatitis1CTD_human
TgeneC0524611Cryptogenic Chronic Hepatitis1CTD_human
TgeneC0524702Pulmonary Thromboembolisms1CTD_human
TgeneC0555198Malignant Glioma1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0751074Diabetic Neuralgia1CTD_human
TgeneC0751088Dyskinesia, Medication-Induced1CTD_human
TgeneC0814154Alcohol Related Neurodevelopmental Disorder1CTD_human
TgeneC0878544Cardiomyopathies1CTD_human
TgeneC0917798Cerebral Ischemia1CTD_human
TgeneC0971858Arthritis, Collagen-Induced1CTD_human
TgeneC0993582Arthritis, Experimental1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1456865Ureteral Calculi1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1527168Bonnevie-Ullrich Syndrome1CTD_human
TgeneC1571983Involutional paraphrenia1CTD_human
TgeneC1571984Psychosis, Involutional1CTD_human
TgeneC1959583Myocardial Failure1CTD_human
TgeneC1961112Heart Decompensation1CTD_human
TgeneC2711227Steatohepatitis1CTD_human
TgeneC2985290Fetal Alcohol Spectrum Disorders1CTD_human
TgeneC3146244Alcohol Related Birth Defect1CTD_human
TgeneC3241937Nonalcoholic Steatohepatitis1CTD_human
TgeneC3661483Partial Fetal Alcohol Syndrome1CTD_human
TgeneC3714618Primary Hyperthyroidism1CTD_human
TgeneC3837958Diabetes Mellitus, Ketosis-Prone1CTD_human
TgeneC4554117Diabetes Mellitus, Sudden-Onset1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human
TgeneC4721507Alveolitis, Fibrosing1CTD_human
TgeneC4721845Marfan Syndrome, Type I1CTD_human