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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: 5644

FusionGeneSummary for CAT_CD3D

check button Fusion gene summary
Fusion gene informationFusion gene name: CAT_CD3D
Fusion gene ID: 5644
HgeneTgene
Gene symbol

CAT

CD3D

Gene ID

10249

915

Gene nameglycine-N-acyltransferaseCD3d molecule
SynonymsACGNAT|CAT|GATCD3-DELTA|IMD19|T3D
Cytomap

11q12.1

11q23.3

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-acyltransferaseglycine N-benzoyltransfT-cell surface glycoprotein CD3 delta chainCD3 antigen, delta subunitCD3 deltaCD3d antigen, delta polypeptide (TiT3 complex)CD3d molecule, delta (CD3-TCR complex)OKT3, delta chainT-cell receptor T3 delta chain
Modification date2018051920180523
UniProtAcc

P04040

P04234

Ensembl transtripts involved in fusion geneENST00000241052, ENST00000534710, 
ENST00000300692, ENST00000529594, 
ENST00000392884, 
Fusion gene scores* DoF score3 X 3 X 3=272 X 1 X 2=4
# samples 62
** MAII scorelog2(6/27*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(2/4*10)=2.32192809488736
Context

PubMed: CAT [Title/Abstract] AND CD3D [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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

TgeneCD3D

GO:0030217

T cell differentiation

2017177

TgeneCD3D

GO:0045944

positive regulation of transcription by RNA polymerase II

2017177


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
TCGARVOVTCGA-13-0905-01BCATchr11

34460626

+CD3Dchr11

118210209

-
* 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
Frame-shiftENST00000241052ENST00000300692CATchr11

34460626

+CD3Dchr11

118210209

-
Frame-shiftENST00000241052ENST00000529594CATchr11

34460626

+CD3Dchr11

118210209

-
Frame-shiftENST00000241052ENST00000392884CATchr11

34460626

+CD3Dchr11

118210209

-
intron-3CDSENST00000534710ENST00000300692CATchr11

34460626

+CD3Dchr11

118210209

-
intron-3CDSENST00000534710ENST00000529594CATchr11

34460626

+CD3Dchr11

118210209

-
intron-3CDSENST00000534710ENST00000392884CATchr11

34460626

+CD3Dchr11

118210209

-

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FusionProtFeatures for CAT_CD3D


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

P04040

CD3D

P04234

Occurs in almost all aerobically respiring organisms andserves to protect cells from the toxic effects of hydrogenperoxide. Promotes growth of cells including T-cells, B-cells,myeloid leukemia cells, melanoma cells, mastocytoma cells andnormal and transformed fibroblast cells.{ECO:0000269|PubMed:7882369}. Part of the TCR-CD3 complex present on T-lymphocyte cellsurface that plays an essential role in adaptive immune response.When antigen presenting cells (APCs) activate T-cell receptor(TCR), TCR-mediated signals are transmitted across the cellmembrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3chains contain immunoreceptor tyrosine-based activation motifs(ITAMs) in their cytoplasmic domain. Upon TCR engagement, thesemotifs become phosphorylated by Src family protein tyrosinekinases LCK and FYN, resulting in the activation of downstreamsignaling pathways (PubMed:2470098). In addition of this role ofsignal transduction in T-cell activation, CD3D plays an essentialrole in thymocyte differentiation. Indeed, participates in correctintracellular TCR-CD3 complex assembly and surface expression. Inabsence of a functional TCR-CD3 complex, thymocytes are unable todifferentiate properly. Interacts with CD4 and CD8 and thus servesto establish a functional link between the TCR and coreceptors CD4and CD8, which is needed for activation and positive selection ofCD4 or CD8 T-cells(PubMed:12215456). {ECO:0000269|PubMed:12215456,ECO:0000269|PubMed:12507424, ECO:0000269|PubMed:2470098}.

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 CAT_CD3D


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 CAT_CD3D


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
CATABL1, ABL2, CAT, PEX5, USP53, APP, HSD17B4, STIM1, MECP2, EHHADH, KEAP1, ENO1, MOV10, CCDC8, NTRK1, ACAA1, ACE2, ACOX1, AGL, ALDH7A1, ATPIF1, BCAT2, CFL1, CFL2, ENO3, HSPE1, LDHA, LDHB, PGM1, PPA2, SOD1, SOD2, SORD, UFC1, CYCS, FAHD1, FAHD2A, PRDX1, PRDX2, PRDX5, TANGO2, GNAS, JUP, SMARCA4, ACTR3, MCM2, ESR1, CYLDCD3DCD8A, CANX, DERL1, AMFR, VCP, ERLIN2, KCNA3, PDIA2, UBQLN1


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 CAT_CD3D


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCATP04040DB01213FomepizoleCatalasesmall moleculeapproved|vet_approved
TgeneCD3DP04234DB00075MuromonabT-cell surface glycoprotein CD3 delta chainbiotechapproved|investigational
TgeneCD3DP04234DB09052BlinatumomabT-cell surface glycoprotein CD3 delta chainbiotechapproved|investigational

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RelatedDiseases for CAT_CD3D


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCATC0268419Acatalasia5CTD_human;ORPHANET
HgeneCATC0007621Neoplastic Cell Transformation4CTD_human
HgeneCATC0020538Hypertensive disease4CTD_human
HgeneCATC0035126Reperfusion Injury4CTD_human
HgeneCATC0038220Status Epilepticus4CTD_human
HgeneCATC0011853Diabetes Mellitus, Experimental3CTD_human
HgeneCATC0027627Neoplasm Metastasis3CTD_human
HgeneCATC0036572Seizures3CTD_human
HgeneCATC0001973Alcoholic Intoxication, Chronic2PSYGENET
HgeneCATC0011860Diabetes Mellitus, Non-Insulin-Dependent2CTD_human
HgeneCATC0022661Kidney Failure, Chronic2CTD_human
HgeneCATC0027540Necrosis2CTD_human
HgeneCATC0027626Neoplasm Invasiveness2CTD_human
HgeneCATC1269683Major Depressive Disorder2CTD_human;PSYGENET
HgeneCATC0003493Aortic Diseases1CTD_human
HgeneCATC0003873Rheumatoid Arthritis1CTD_human
HgeneCATC0004045Asphyxia Neonatorum1CTD_human
HgeneCATC0004096Asthma1CTD_human
HgeneCATC0004352Autistic Disorder1CTD_human
HgeneCATC0004943Behcet Syndrome1CTD_human
HgeneCATC0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneCATC0007786Brain Ischemia1CTD_human
HgeneCATC0011849Diabetes Mellitus1CTD_human
HgeneCATC0011854Diabetes Mellitus, Insulin-Dependent1CTD_human
HgeneCATC0011882Diabetic Neuropathies1CTD_human
HgeneCATC0013386Dyskinesia, Drug-Induced1CTD_human
HgeneCATC0013604Edema1CTD_human
HgeneCATC0015695Fatty Liver1CTD_human
HgeneCATC0017638Glioma1CTD_human
HgeneCATC0018801Heart failure1CTD_human
HgeneCATC0019158Hepatitis1CTD_human
HgeneCATC0019189Hepatitis, Chronic1CTD_human
HgeneCATC0020452Hyperemia1CTD_human
HgeneCATC0020550Hyperthyroidism1CTD_human
HgeneCATC0020649Hypotension1CTD_human
HgeneCATC0022593Keratosis1CTD_human
HgeneCATC0022650Kidney Calculi1CTD_human
HgeneCATC0023891Liver Cirrhosis, Alcoholic1CTD_human
HgeneCATC0024141Lupus Erythematosus, Systemic1CTD_human
HgeneCATC0024796Marfan Syndrome1CTD_human
HgeneCATC0025500Mesothelioma1CTD_human
HgeneCATC0027051Myocardial Infarction1CTD_human
HgeneCATC0027055Myocardial Reperfusion Injury1CTD_human
HgeneCATC0029458Osteoporosis, Postmenopausal1CTD_human
HgeneCATC0032927Precancerous Conditions1CTD_human
HgeneCATC0033626Protein Deficiency1CTD_human
HgeneCATC0033860Psoriasis1CTD_human
HgeneCATC0034063Pulmonary Edema1CTD_human
HgeneCATC0034065Pulmonary Embolism1CTD_human
HgeneCATC0034069Pulmonary Fibrosis1CTD_human
HgeneCATC0038358Gastric ulcer1CTD_human
HgeneCATC0041408Turner Syndrome1CTD_human
HgeneCATC0041696Unipolar Depression1PSYGENET
HgeneCATC0079744Diffuse Large B-Cell Lymphoma1CTD_human
HgeneCATC0151526Premature Birth1CTD_human
HgeneCATC0242488Acute Lung Injury1CTD_human
HgeneCATC0349231Phobic anxiety disorder1CTD_human
HgeneCATC0376628Chromosome Breakage1CTD_human
HgeneCATC0878544Cardiomyopathies1CTD_human
HgeneCATC0993582Arthritis, Experimental1CTD_human
HgeneCATC1456865Ureteral Calculi1CTD_human
HgeneCATC1458155Mammary Neoplasms1CTD_human
HgeneCATC2985290Fetal Alcohol Spectrum Disorders1CTD_human
HgeneCATC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneCD3DC0023892Biliary cirrhosis1CTD_human
TgeneCD3DC0023895Liver diseases1CTD_human
TgeneCD3DC0085110Severe Combined Immunodeficiency1CTD_human
TgeneCD3DC0162820Dermatitis, Allergic Contact1CTD_human
TgeneCD3DC0235032Neurotoxicity Syndromes1CTD_human