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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:CAT-MARK3 (FusionGDB2 ID:13343)

Fusion Gene Summary for CAT-MARK3

check button Fusion gene summary
Fusion gene informationFusion gene name: CAT-MARK3
Fusion gene ID: 13343
HgeneTgene
Gene symbol

CAT

MARK3

Gene ID

10249

4140

Gene nameglycine-N-acyltransferasemicrotubule affinity regulating kinase 3
SynonymsACGNAT|CAT|GATCTAK1|KP78|PAR1A|Par-1a|VIPB
Cytomap

11q12.1

14q32.32-q32.33

Type of geneprotein-codingprotein-coding
Descriptionglycine N-acyltransferaseAAcHRP-1(CLP)acyl-CoA:glycine N-acyltransferasearalkyl acyl-CoA N-acyltransferasearalkyl acyl-CoA:amino acid N-acyltransferasearalkyl-CoA N-acyltransferasebenzoyl-coenzyme A:glycine N-acyltransferaseepididymis secretory spMAP/microtubule affinity-regulating kinase 3C-TAK1ELKL motif kinase 2EMK-2cdc25C-associated protein kinase 1protein kinase STK10ser/Thr protein kinase PAR-1serine/threonine-protein kinase p78
Modification date2020031320200313
UniProtAcc.

P27448

Ensembl transtripts involved in fusion geneENST00000241052, ENST00000534710, 
ENST00000440884, ENST00000416682, 
ENST00000429436, ENST00000303622, 
ENST00000216288, ENST00000553942, 
ENST00000335102, ENST00000561071, 
Fusion gene scores* DoF score5 X 5 X 4=10016 X 19 X 9=2736
# samples 521
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(21/2736*10)=-3.70360699721978
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CAT [Title/Abstract] AND MARK3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCAT(34480167)-MARK3(103958203), # samples:4
MARK3(103958203)-CAT(34480167), # 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
HgeneCAT

GO:0006544

glycine metabolic process

22475485

HgeneCAT

GO:1901787

benzoyl-CoA metabolic process

22475485

TgeneMARK3

GO:0018105

peptidyl-serine phosphorylation

9543386

TgeneMARK3

GO:0032092

positive regulation of protein binding

9543386

TgeneMARK3

GO:0035331

negative regulation of hippo signaling

28087714

TgeneMARK3

GO:0036289

peptidyl-serine autophosphorylation

9543386


check buttonFusion gene breakpoints across CAT (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across MARK3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChiTaRS5.0N/ABI024383CATchr11

34480167

-MARK3chr14

103958203

+
ChiTaRS5.0N/ABI024396CATchr11

34480167

-MARK3chr14

103958203

+
ChiTaRS5.0N/ABI028161CATchr11

34480167

-MARK3chr14

103958203

+
ChiTaRS5.0N/ABI028162CATchr11

34480167

-MARK3chr14

103958203

+


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Fusion Gene ORF analysis for CAT-MARK3

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-3CDSENST00000241052ENST00000440884CATchr11

34480167

-MARK3chr14

103958203

+
intron-3CDSENST00000241052ENST00000416682CATchr11

34480167

-MARK3chr14

103958203

+
intron-3CDSENST00000241052ENST00000429436CATchr11

34480167

-MARK3chr14

103958203

+
intron-3CDSENST00000241052ENST00000303622CATchr11

34480167

-MARK3chr14

103958203

+
intron-3CDSENST00000241052ENST00000216288CATchr11

34480167

-MARK3chr14

103958203

+
intron-3CDSENST00000241052ENST00000553942CATchr11

34480167

-MARK3chr14

103958203

+
intron-3CDSENST00000241052ENST00000335102CATchr11

34480167

-MARK3chr14

103958203

+
intron-3UTRENST00000241052ENST00000561071CATchr11

34480167

-MARK3chr14

103958203

+
intron-3CDSENST00000534710ENST00000440884CATchr11

34480167

-MARK3chr14

103958203

+
intron-3CDSENST00000534710ENST00000416682CATchr11

34480167

-MARK3chr14

103958203

+
intron-3CDSENST00000534710ENST00000429436CATchr11

34480167

-MARK3chr14

103958203

+
intron-3CDSENST00000534710ENST00000303622CATchr11

34480167

-MARK3chr14

103958203

+
intron-3CDSENST00000534710ENST00000216288CATchr11

34480167

-MARK3chr14

103958203

+
intron-3CDSENST00000534710ENST00000553942CATchr11

34480167

-MARK3chr14

103958203

+
intron-3CDSENST00000534710ENST00000335102CATchr11

34480167

-MARK3chr14

103958203

+
intron-3UTRENST00000534710ENST00000561071CATchr11

34480167

-MARK3chr14

103958203

+

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 CAT-MARK3


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

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.

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Fusion Protein Features for CAT-MARK3


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.MARK3

P27448

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Serine/threonine-protein kinase (PubMed:23666762). Involved in the specific phosphorylation of microtubule-associated proteins for MAP2 and MAP4. Phosphorylates the microtubule-associated protein MAPT/TAU (PubMed:23666762). Phosphorylates CDC25C on 'Ser-216'. Regulates localization and activity of some histone deacetylases by mediating phosphorylation of HDAC7, promoting subsequent interaction between HDAC7 and 14-3-3 and export from the nucleus (PubMed:16980613). Negatively regulates the Hippo signaling pathway and antagonizes the phosphorylation of LATS1. Cooperates with DLG5 to inhibit the kinase activity of STK3/MST2 toward LATS1 (PubMed:28087714). {ECO:0000269|PubMed:16980613, ECO:0000269|PubMed:23666762, ECO:0000269|PubMed:28087714}.

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 CAT-MARK3


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 CAT-MARK3


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 CAT-MARK3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneMARK3P27448DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
TgeneMARK3P27448DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
TgeneMARK3P27448DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational

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Related Diseases for CAT-MARK3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCATC0268419Acatalasia7CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneCATC0007621Neoplastic Cell Transformation6CTD_human
HgeneCATC0752048Hypocatalasemia5CTD_human
HgeneCATC2931868Catalase deficiency5CTD_human;ORPHANET
HgeneCATC2936847Acatalasemia Japanese type5CTD_human
HgeneCATC2936848Acatalasemia Swiss type5CTD_human
HgeneCATC0020538Hypertensive disease4CTD_human
HgeneCATC0035126Reperfusion Injury4CTD_human
HgeneCATC0038220Status Epilepticus4CTD_human
HgeneCATC0270823Petit mal status4CTD_human
HgeneCATC0311335Grand Mal Status Epilepticus4CTD_human
HgeneCATC0393734Complex Partial Status Epilepticus4CTD_human
HgeneCATC0751522Status Epilepticus, Subclinical4CTD_human
HgeneCATC0751523Non-Convulsive Status Epilepticus4CTD_human
HgeneCATC0751524Simple Partial Status Epilepticus4CTD_human
HgeneCATC0002152Alloxan Diabetes3CTD_human
HgeneCATC0011853Diabetes Mellitus, Experimental3CTD_human
HgeneCATC0022333Jacksonian Seizure3CTD_human
HgeneCATC0027627Neoplasm Metastasis3CTD_human
HgeneCATC0036572Seizures3CTD_human
HgeneCATC0038433Streptozotocin Diabetes3CTD_human
HgeneCATC0149958Complex partial seizures3CTD_human
HgeneCATC0234533Generalized seizures3CTD_human
HgeneCATC0234535Clonic Seizures3CTD_human
HgeneCATC0235874Disease Exacerbation3CTD_human
HgeneCATC0270824Visual seizure3CTD_human
HgeneCATC0270844Tonic Seizures3CTD_human
HgeneCATC0270846Epileptic drop attack3CTD_human
HgeneCATC0422850Seizures, Somatosensory3CTD_human
HgeneCATC0422852Seizures, Auditory3CTD_human
HgeneCATC0422853Olfactory seizure3CTD_human
HgeneCATC0422854Gustatory seizure3CTD_human
HgeneCATC0422855Vertiginous seizure3CTD_human
HgeneCATC0494475Tonic - clonic seizures3CTD_human
HgeneCATC0751056Non-epileptic convulsion3CTD_human
HgeneCATC0751110Single Seizure3CTD_human
HgeneCATC0751123Atonic Absence Seizures3CTD_human
HgeneCATC0751494Convulsive Seizures3CTD_human
HgeneCATC0751495Seizures, Focal3CTD_human
HgeneCATC0751496Seizures, Sensory3CTD_human
HgeneCATC3495874Nonepileptic Seizures3CTD_human
HgeneCATC4048158Convulsions3CTD_human
HgeneCATC4316903Absence Seizures3CTD_human
HgeneCATC4317109Epileptic Seizures3CTD_human
HgeneCATC4317123Myoclonic Seizures3CTD_human
HgeneCATC4505436Generalized Absence Seizures3CTD_human
HgeneCATC0000771Abnormalities, Drug-Induced2CTD_human
HgeneCATC0001973Alcoholic Intoxication, Chronic2PSYGENET
HgeneCATC0011860Diabetes Mellitus, Non-Insulin-Dependent2CTD_human
HgeneCATC0019193Hepatitis, Toxic2CTD_human
HgeneCATC0022661Kidney Failure, Chronic2CTD_human
HgeneCATC0027540Necrosis2CTD_human
HgeneCATC0027626Neoplasm Invasiveness2CTD_human
HgeneCATC0860207Drug-Induced Liver Disease2CTD_human
HgeneCATC1262760Hepatitis, Drug-Induced2CTD_human
HgeneCATC1269683Major Depressive Disorder2CTD_human;PSYGENET
HgeneCATC3658290Drug-Induced Acute Liver Injury2CTD_human
HgeneCATC4277682Chemical and Drug Induced Liver Injury2CTD_human
HgeneCATC4279912Chemically-Induced Liver Toxicity2CTD_human
HgeneCATC0003493Aortic Diseases1CTD_human
HgeneCATC0003865Arthritis, Adjuvant-Induced1CTD_human
HgeneCATC0003873Rheumatoid Arthritis1CTD_human
HgeneCATC0004045Asphyxia Neonatorum1CTD_human
HgeneCATC0004096Asthma1CTD_human
HgeneCATC0004352Autistic Disorder1CTD_human
HgeneCATC0004943Behcet Syndrome1CTD_human
HgeneCATC0006142Malignant neoplasm of breast1CTD_human
HgeneCATC0006826Malignant Neoplasms1CTD_human
HgeneCATC0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneCATC0007786Brain Ischemia1CTD_human
HgeneCATC0008370Cholestasis1CTD_human
HgeneCATC0008909Claustrophobia1CTD_human
HgeneCATC0011574Involutional Depression1CTD_human
HgeneCATC0011849Diabetes Mellitus1CTD_human
HgeneCATC0011854Diabetes Mellitus, Insulin-Dependent1CTD_human
HgeneCATC0011882Diabetic Neuropathies1CTD_human
HgeneCATC0013386Dyskinesia, Drug-Induced1CTD_human
HgeneCATC0013604Edema1CTD_human
HgeneCATC0015695Fatty Liver1CTD_human
HgeneCATC0015923Fetal Alcohol Syndrome1CTD_human
HgeneCATC0017638Glioma1CTD_human
HgeneCATC0018801Heart failure1CTD_human
HgeneCATC0018802Congestive heart failure1CTD_human
HgeneCATC0019158Hepatitis1CTD_human
HgeneCATC0019189Hepatitis, Chronic1CTD_human
HgeneCATC0020452Hyperemia1CTD_human
HgeneCATC0020550Hyperthyroidism1CTD_human
HgeneCATC0020649Hypotension1CTD_human
HgeneCATC0022593Keratosis1CTD_human
HgeneCATC0022594Keratosis Blennorrhagica1CTD_human
HgeneCATC0022650Kidney Calculi1CTD_human
HgeneCATC0023212Left-Sided Heart Failure1CTD_human
HgeneCATC0023891Liver Cirrhosis, Alcoholic1CTD_human
HgeneCATC0024141Lupus Erythematosus, Systemic1CTD_human
HgeneCATC0024796Marfan Syndrome1CTD_human
HgeneCATC0025500Mesothelioma1CTD_human
HgeneCATC0027051Myocardial Infarction1CTD_human
HgeneCATC0027055Myocardial Reperfusion Injury1CTD_human
HgeneCATC0027651Neoplasms1CTD_human
HgeneCATC0029458Osteoporosis, Postmenopausal1CTD_human
HgeneCATC0030246Pustulosis of Palms and Soles1CTD_human
HgeneCATC0032927Precancerous Conditions1CTD_human
HgeneCATC0033141Cardiomyopathies, Primary1CTD_human
HgeneCATC0033626Protein Deficiency1CTD_human
HgeneCATC0033860Psoriasis1CTD_human
HgeneCATC0034063Pulmonary Edema1CTD_human
HgeneCATC0034065Pulmonary Embolism1CTD_human
HgeneCATC0034069Pulmonary Fibrosis1CTD_human
HgeneCATC0036529Myocardial Diseases, Secondary1CTD_human
HgeneCATC0038358Gastric ulcer1CTD_human
HgeneCATC0041408Turner Syndrome1CTD_human
HgeneCATC0041696Unipolar Depression1PSYGENET
HgeneCATC0042484Venous Engorgement1CTD_human
HgeneCATC0079744Diffuse Large B-Cell Lymphoma1CTD_human
HgeneCATC0086501Keratoma1CTD_human
HgeneCATC0086692Benign Neoplasm1CTD_human
HgeneCATC0149519Chronic Persistent Hepatitis1CTD_human
HgeneCATC0151526Premature Birth1CTD_human
HgeneCATC0151603Anasarca1CTD_human
HgeneCATC0178824Reactive Hyperemia1CTD_human
HgeneCATC0205734Diabetes, Autoimmune1CTD_human
HgeneCATC0235527Heart Failure, Right-Sided1CTD_human
HgeneCATC0242380Libman-Sacks Disease1CTD_human
HgeneCATC0242488Acute Lung Injury1CTD_human
HgeneCATC0242526Gonadal Dysgenesis, 45,X1CTD_human
HgeneCATC0259783mixed gliomas1CTD_human
HgeneCATC0271673Symmetric Diabetic Proximal Motor Neuropathy1CTD_human
HgeneCATC0271674Asymmetric Diabetic Proximal Motor Neuropathy1CTD_human
HgeneCATC0271678Diabetic Mononeuropathy1CTD_human
HgeneCATC0271680Diabetic Polyneuropathies1CTD_human
HgeneCATC0271685Diabetic Amyotrophy1CTD_human
HgeneCATC0271686Diabetic Autonomic Neuropathy1CTD_human
HgeneCATC0282313Condition, Preneoplastic1CTD_human
HgeneCATC0333233Active Hyperemia1CTD_human
HgeneCATC0333704Chromosome Breaks1CTD_human
HgeneCATC0342302Brittle diabetes1CTD_human
HgeneCATC0349231Phobic anxiety disorder1CTD_human
HgeneCATC0376628Chromosome Breakage1CTD_human
HgeneCATC0393835Diabetic Asymmetric Polyneuropathy1CTD_human
HgeneCATC0400966Non-alcoholic Fatty Liver Disease1CTD_human
HgeneCATC0520463Chronic active hepatitis1CTD_human
HgeneCATC0524611Cryptogenic Chronic Hepatitis1CTD_human
HgeneCATC0524702Pulmonary Thromboembolisms1CTD_human
HgeneCATC0555198Malignant Glioma1CTD_human
HgeneCATC0678222Breast Carcinoma1CTD_human
HgeneCATC0751074Diabetic Neuralgia1CTD_human
HgeneCATC0751088Dyskinesia, Medication-Induced1CTD_human
HgeneCATC0814154Alcohol Related Neurodevelopmental Disorder1CTD_human
HgeneCATC0878544Cardiomyopathies1CTD_human
HgeneCATC0917798Cerebral Ischemia1CTD_human
HgeneCATC0971858Arthritis, Collagen-Induced1CTD_human
HgeneCATC0993582Arthritis, Experimental1CTD_human
HgeneCATC1257931Mammary Neoplasms, Human1CTD_human
HgeneCATC1456865Ureteral Calculi1CTD_human
HgeneCATC1458155Mammary Neoplasms1CTD_human
HgeneCATC1527168Bonnevie-Ullrich Syndrome1CTD_human
HgeneCATC1571983Involutional paraphrenia1CTD_human
HgeneCATC1571984Psychosis, Involutional1CTD_human
HgeneCATC1959583Myocardial Failure1CTD_human
HgeneCATC1961112Heart Decompensation1CTD_human
HgeneCATC2711227Steatohepatitis1CTD_human
HgeneCATC2985290Fetal Alcohol Spectrum Disorders1CTD_human
HgeneCATC3146244Alcohol Related Birth Defect1CTD_human
HgeneCATC3241937Nonalcoholic Steatohepatitis1CTD_human
HgeneCATC3661483Partial Fetal Alcohol Syndrome1CTD_human
HgeneCATC3714618Primary Hyperthyroidism1CTD_human
HgeneCATC3837958Diabetes Mellitus, Ketosis-Prone1CTD_human
HgeneCATC4554117Diabetes Mellitus, Sudden-Onset1CTD_human
HgeneCATC4704874Mammary Carcinoma, Human1CTD_human
HgeneCATC4721507Alveolitis, Fibrosing1CTD_human
HgeneCATC4721845Marfan Syndrome, Type I1CTD_human
TgeneMARK3C4748978VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI1UNIPROT