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	Gene Summary
	Translation studies in PubMed
	Exon Skipping Events
	Expression
	Expression Regulation
	Associated Genes
	Protein 3D Structure
	Protein-Protein Interaction
	Mutations
	Prognostic Analysis
	Gender Association
	Age Association
	Related Drugs
	Related Diseases

Translation Factor: DRD4 (NCBI Gene ID:1815)

Gene Summary

Gene Summary

Gene Information	Gene Name: DRD4
	Gene ID: 1815
	Gene Symbol	DRD4
	Gene ID	1815
	Gene Name	dopamine receptor D4
	Synonyms	D4DR
	Cytomap	11p15.5
	Type of Gene	protein-coding
	Description	D(4) dopamine receptorD(2C) dopamine receptordopamine D4 receptorseven transmembrane helix receptor
	Modification date	20200329
	UniProtAcc	P21917

Child GO biological process term(s) under GO:0006412

GO ID

GO term

Gene ontology of translaction factor with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	DRD4	GO:0000187	activation of MAPK activity	9843378\|15755724
Hgene	DRD4	GO:0007195	adenylate cyclase-inhibiting dopamine receptor signaling pathway	7512953\|9003072\|9843378
Hgene	DRD4	GO:0007212	dopamine receptor signaling pathway	1840645
Hgene	DRD4	GO:0032417	positive regulation of sodium:proton antiporter activity	7512953
Hgene	DRD4	GO:0033674	positive regulation of kinase activity	15755724
Hgene	DRD4	GO:0034776	response to histamine	16839358
Hgene	DRD4	GO:0050482	arachidonic acid secretion	7512953
Hgene	DRD4	GO:0050709	negative regulation of protein secretion	16839358
Hgene	DRD4	GO:1901386	negative regulation of voltage-gated calcium channel activity	7921596

Inferred gene age of translation factor.

Gene

Inferred gene age group among (0 - 67.6], (67.6 - 355.7], (355.7 - 733], (733 - 1119.25], >1119.25

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Translation Studies in PubMed

We searched PubMed using 'DRD4[title] AND translation [title] AND human.'

Gene	Title	PMID
DRD4	.	.

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Exon Skipping Events

Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
For more annotations, please visit our ExonSkipDB.

Open reading frame (ORF) analsis of exon skipping events 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.

ENST

Exon skip start (DNA)

Exon Skip end (DNA)

ORF

Exon skipping position in the amino acid sequence.

ENST

Exon skip start (DNA)

Exon Skip end (DNA)

Len(transcript seq)

Exon skip start (mRNA)

Exon Skip end (mRNA)

Len(amino acid seq)

Exon skip start (AA)

Exon Skip end (AA)

Potentially (partially) lost protein functional features of UniProt.

UniProtAcc

Exon skip start (AA)

Exon Skip end (AA)

Function feature start (AA)

Function feature end (AA)

Functional feature type

Functional feature desc.

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Expression

Gene expression level across TCGA pancancer

Gene expression level across GTEx pantissue

Expression level of gene isoforms across TCGA pancancer

Expression level of gene isoforms across GTEx pantissue

Cancer(tissue) type-specific expression level of Translation factor using z-score distriution

Differential expression between tumor and matched normal (in the cancer types with more than 10 matched samples)

Cancer type	Translation factor	FC	adj.pval
HNSC	DRD4	-4.21480834070718	0.000102781329587742
LUSC	DRD4	-2.41872030088879	1.55603189752189e-06
KIRC	DRD4	-1.07844174851302	2.18353613355818e-05
BRCA	DRD4	-1.95106829703492	6.71547051892467e-10

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Expression Regulation

Translation factor expression regulation through miRNA binding

Cancer type

Gene

miRNA

TargetScan binding score (Context++ score percentile)

Coefficient

Pvalue

Translation factor expression regulation through methylation in the promoter of Translation factor

Cancer type

Gene

methyl group b

methyl group a

DEG pval

avg methyl in b

avg methyl in a

avg exp in b

avg exp in a

Translation factor expression regulation through methylation in the gene body of Translation factor (positive regulation)

Cancer type

Gene

methyl group b

methyl group a

DEG pval

avg methyl in b

avg methyl in a

avg exp in b

avg exp in a

Translation factor expression regulation through copy number variation of Translation factor

Cancer type

Gene

Coefficient

Pvalue

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Associated Genes

Strongly correlated genes belong to cellular important gene groups with DRD4 (coefficient>0.8, pval<0.05, node color based on FC between tumor and matched normal). Significantly associated important genes in the individual cancer types. * Cell metabolism gene: cell metabolism genes from REACTOME (black edge), IUPHAR: drug target genes from IUPHAR (blue edge), Kinase: human kinase genes (brown edge), CGC: cancer gene census genes (orange edge), TSG: tumor suppresor genes (purple edge), Epifactor: epigenetic factors (light blue edge), TF: transcription factors (green)

Cancer type

Gene group

Translation factor

Correlated gene

Coefficient

Pvalue

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Protein structure

Protein 3D structure
Visit iCn3D.

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Protein-Protein Interaction

Protein-protein interaction networks
* Overlap between up-regulated DEGs (log2FC<-1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

Overlap between down-regulated DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

* Edge colors based on TCGA cancer types.

* Overlap between DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network per cancer (center: Translation factor, node: DEGs, node color: log2FC, edges: weighted by -log2(adj.P))

Cancer type	Translation factor	Interacting protein coding gene	FC	adj.pval
KIRC	DRD4	COMT	1.47836258495866	0.000487253612480757
BLCA	DRD4	GNAI1	-2.93520499171855	0.000644683837890625
PRAD	DRD4	SLC6A4	1.16206063465462	0.00109529931302818
PRAD	DRD4	GNAI1	1.58271996200084	0.00116785923777763
LUSC	DRD4	ANKK1	1.86618585979595	0.00339826502432084
LUSC	DRD4	GNAI1	1.19035009670475	0.00499504210390278
LUSC	DRD4	SLC6A3	-3.12170449437341	0.0059393237503163
CHOL	DRD4	GNB3	-2.28465398261697	0.0078125
CHOL	DRD4	MAOA	-2.88792591323599	0.0078125
LUAD	DRD4	GNAI1	-2.83612098688685	0.00887287917335037
CHOL	DRD4	COMT	-1.07372064465474	0.01171875
CHOL	DRD4	SLC6A4	-1.22279970172259	0.0142661867014469
LUAD	DRD4	SLC6A3	1.35821040201445	0.0182052890234661
HNSC	DRD4	MAOA	-1.20575661309287	0.0210450955021315
CHOL	DRD4	SLC6A3	-3.71301830948578	0.02734375
READ	DRD4	COMT	-4.28506130394875	0.03125
READ	DRD4	MAOA	-3.9669044755568	0.03125
BRCA	DRD4	SLC6A4	1.91263158501749	0.036144165937263
KIRP	DRD4	ANKK1	-9.01110053426812	0.0413399673998356
LIHC	DRD4	COMT	-2.73019242658692	1.10045092764477e-07
LUAD	DRD4	MAOA	-1.54310090005485	1.18518512875013e-07
KIRC	DRD4	GNAI1	-1.31329528573479	1.28330819964462e-11
LUSC	DRD4	MAOA	-2.56499628852073	1.28453134099834e-09
THCA	DRD4	SLC6A3	-4.06801636862211	1.52069486270417e-09
COAD	DRD4	MAOA	-1.27294391771516	2.08616256713867e-07
KIRC	DRD4	ANKK1	-1.27807099205207	2.98666385548396e-06
LUAD	DRD4	SLC6A4	-5.00880087910183	3.59910232594763e-11
KIRC	DRD4	SLC6A3	3.07827681348267	5.00897740892013e-13
LUSC	DRD4	SLC6A4	-2.87713272681495	5.97174133915752e-10
HNSC	DRD4	GNAI1	1.4612266170729	6.04393335379428e-08
THCA	DRD4	COMT	-1.00078453085988	6.42442896273628e-05
LUAD	DRD4	GNB3	-2.57353461384531	6.67503596157052e-07
KICH	DRD4	ANKK1	1.41252754516219	8.80360603332519e-05
KICH	DRD4	GNB3	1.47109026605172	8.80360603332519e-05

Protein-protein interactors with this translation factor (BIOGRID-3.4.160)

PPI interactors with DRD4

CLIC6, KCNJ3, KCNJ9, KCNJ5, GRB2, NCK1, KLHL12, ARRB2, STUB1, CUL3, ARRB1, ADRB2, ADCY2, GNAI1, ATM, PRKDC, INTS1, MRS2, SLC7A3, ARL10, DPY19L3, PIGM, TNPO2,

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
DRD4	chr11	637335	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DRD4	chr11	637355	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
DRD4	chr11	637430	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
DRD4	chr11	637526	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
DRD4	chr11	637536	GCCGCCGACCTCCT	G	Deletion	Conflicting_interpretations_of_pathogenicity	Autonomic_nervous_system_dysfunction\|not_specified\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
DRD4	chr11	637553	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
DRD4	chr11	639426	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DRD4	chr11	639830	T	G	single_nucleotide_variant	Benign	DOPAMINE_RECEPTOR_D4_POLYMORPHISM	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DRD4	chr11	639981	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
DRD4	chr11	639993	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
DRD4	chr11	640051	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DRD4	chr11	640109	A	C	single_nucleotide_variant	Benign/Likely_benign	not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DRD4	chr11	640138	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DRD4	chr11	640253	C	G	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DRD4	chr11	640417	CT	GG	Indel	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DRD4	chr11	640453	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
DRD4	chr11	640537	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant

nsSNVs with sample frequency (size of circle) from TCGA 33 cancers.

SNVs and Indels

Gene	Cancer type	Chromosome	Start	End	RefSeeq	MutSeq	Mutation type	AAchange	# samples
DRD4	KIRP	chr11	639919	639919	G	A	Missense_Mutation	p.V224M	4
DRD4	BRCA	chr11	640571	640571	G	A	Missense_Mutation	p.V410I	3
DRD4	ESCA	chr11	640565	640565	C	T	Missense_Mutation	p.R408C	3
DRD4	BRCA	chr11	637537	637549	CCGCCGACCTCCT	-	Frame_Shift_Del	p.A79fs	2
DRD4	THCA	chr11	639536	639536	G	T	Missense_Mutation	p.S130I	2
DRD4	THCA	chr11	640585	640585	C	T	Silent	p.A414A	2
DRD4	STAD	chr11	640543	640543	C	T	Silent		2
DRD4	ESCA	chr11	640565	640565	C	T	Missense_Mutation		2
DRD4	STAD	chr11	639854	639854	T	C	Missense_Mutation	p.F202S	2
DRD4	PCPG	chr11	639741	639741	G	A	Silent	p.A164A	2
DRD4	STAD	chr11	640543	640543	C	T	Silent	p.Y400Y	2
DRD4	STAD	chr11	640597	640597	C	G	Missense_Mutation	p.C418W	2
DRD4	HNSC	chr11	640559	640559	G	A	Missense_Mutation	p.E406K	2
DRD4	ACC	chr11	639873	639873	G	A	Missense_Mutation	p.M208I	2
DRD4	HNSC	chr11	639780	639780	G	A	Silent	p.V177V	2
DRD4	KIRP	chr11	639830	639830	T	G	Missense_Mutation	p.V194G	1
DRD4	SKCM	chr11	639790	639790	G	A	Missense_Mutation	p.D181N	1
DRD4	THCA	chr11	640585	640585	C	T	Silent		1
DRD4	KIRP	chr11	640253	640253	C	G	Missense_Mutation	p.A335G	1
DRD4	SKCM	chr11	639793	639793	C	T	Missense_Mutation	p.P182S	1
DRD4	LGG	chr11	640109	640109	A	C	Missense_Mutation	p.Q287P	1
DRD4	STAD	chr11	639789	639789	C	T	Silent		1
DRD4	COAD	chr11	639492	639492	C	T	Silent	p.D115D	1
DRD4	LUAD	chr11	640430	640430	T	C	Missense_Mutation	p.F363L	1
DRD4	STAD	chr11	639854	639854	T	C	Missense_Mutation		1
DRD4	THCA	chr11	639803	639803	G	T	Missense_Mutation	p.C185F	1
DRD4	LUAD	chr11	639514	639514	A	G	Missense_Mutation	p.I123V	1
DRD4	LUSC	chr11	639799	639799	G	A	Missense_Mutation	p.V184M	1
DRD4	HNSC	chr11	639780	639780	G	A	Silent		1
DRD4	HNSC	chr11	640559	640559	G	A	Missense_Mutation		1
DRD4	PRAD	chr11	640482	640482	G	A	Missense_Mutation	p.R380Q	1
DRD4	ACC	chr11	637463	637463	G	A	Silent	p.S53S	1
DRD4	SARC	chr11	639818	639818	G	T	Missense_Mutation		1
DRD4	STAD	chr11	639789	639789	C	T	Silent	p.R180R	1
DRD4	SARC	chr11	637362	637373	GCGGGGGCATCT	-	In_Frame_Del	p.AGAS24del	1
DRD4	BLCA	chr11	639902	639902	G	A	Missense_Mutation		1
DRD4	STAD	chr11	639781	639781	C	T	Missense_Mutation	p.R178C	1
DRD4	SKCM	chr11	640419	640419	G	A	Nonsense_Mutation	p.W359*	1
DRD4	BLCA	chr11	639902	639902	G	A	Missense_Mutation	p.G218D	1
DRD4	STAD	chr11	639920	639920	T	C	Missense_Mutation	p.V224A	1

Copy number variation (CNV) of DRD4
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across DRD4
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion genes with this translation factor from FusionGDB2.0.

FusionGDB2 ID	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
96465	ACC	TCGA-OR-A5J7	AP2A2	chr11	977224	+	DRD4	chr11	639432	+
96465	ACC	TCGA-OR-A5J7-01A	AP2A2	chr11	977223	+	DRD4	chr11	639432	+
96465	ACC	TCGA-OR-A5J7-01A	AP2A2	chr11	977223	+	DRD4	chr11	640400	+
96465	ACC	TCGA-OR-A5J7-01A	AP2A2	chr11	977224	+	DRD4	chr11	639433	+
96465	ACC	TCGA-OR-A5J7-01A	AP2A2	chr11	977224	+	DRD4	chr11	640401	+
96465	UCEC	TCGA-EO-A3KW-01A	AP2A2	chr11	970311	+	DRD4	chr11	640401	+
96465	UCEC	TCGA-D1-A16Y	PPP1R12C	chr19	55610151	-	DRD4	chr11	639432	+
96465	N/A	BQ186689	SART1	chr11	65744524	+	DRD4	chr11	637540	+
96481	UCEC	TCGA-BS-A0U9	UBR5	chr8	103424400	-	DRD4	chr11	639432	+
96481	UCEC	TCGA-BS-A0U9-01B	UBR5	chr8	103424401	-	DRD4	chr11	639433	+
96481	UCEC	TCGA-BS-A0U9-01B	UBR5	chr8	103424401	-	DRD4	chr11	640401	+

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Prognostic Analysis

Kaplan-Meier plots with logrank tests of overall survival (OS)

Cancer type

Translation factor

Coefficent

Hazard ratio

Wald test pval

Likelihool ratio pval

Logrank test pval

# samples

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Translation factor and Gender

Differential gene expression between female and male. (Wilcoxon test, pval<0.05)

Cancer type

Translation factor

pval

adj.p

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Translation factor and Age

Differential gene expression between young and old age groups (Wilcoxon test, pval<0.05)

Cancer type

Translation factor

pval

adj.p

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Related Drugs

Drugs targeting genes involved in this translation factor.
(DrugBank Version 5.1.8 2021-05-08)

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
P21917	DB00246	Ziprasidone	Antagonist	Small molecule	Approved
P21917	DB00248	Cabergoline	Agonist	Small molecule	Approved
P21917	DB00334	Olanzapine	Antagonist	Small molecule	Approved\|Investigational
P21917	DB00363	Clozapine	Antagonist	Small molecule	Approved
P21917	DB00408	Loxapine	Binder	Small molecule	Approved
P21917	DB00413	Pramipexole	Agonist	Small molecule	Approved\|Investigational
P21917	DB00477	Chlorpromazine	Binder	Small molecule	Approved\|Investigational\|Vet_approved
P21917	DB00490	Buspirone	Antagonist	Small molecule	Approved\|Investigational
P21917	DB00543	Amoxapine	Antagonist	Small molecule	Approved
P21917	DB00589	Lisuride	Agonist	Small molecule	Approved\|Investigational
P21917	DB00988	Dopamine	Agonist	Small molecule	Approved
P21917	DB01186	Pergolide	Agonist	Small molecule	Approved\|Investigational\|Vet_approved\|Withdrawn
P21917	DB01200	Bromocriptine	Antagonist	Small molecule	Approved\|Investigational
P21917	DB01224	Quetiapine	Ligand	Small molecule	Approved
P21917	DB01235	Levodopa	Agonist	Small molecule	Approved
P21917	DB01238	Aripiprazole	Antagonist\|Partial agonist	Small molecule	Approved\|Investigational
P21917	DB01403	Methotrimeprazine	Antagonist	Small molecule	Approved\|Investigational
P21917	DB04908	Flibanserin	Agonist\|Antagonist	Small molecule	Approved\|Investigational
P21917	DB04946	Iloperidone	Antagonist	Small molecule	Approved
P21917	DB06216	Asenapine	Antagonist	Small molecule	Approved
P21917	DB06477	Sumanirole		Small molecule	Investigational
P21917	DB08922	Perospirone	Antagonist	Small molecule	Experimental
P21917	DB12061	Pardoprunox		Small molecule	Investigational
P21917	DB14185	Aripiprazole lauroxil		Small molecule	Approved\|Investigational
P21917	DB00246	Ziprasidone	Antagonist
P21917	DB00248	Cabergoline	Agonist
P21917	DB00334	Olanzapine	Antagonist
P21917	DB00363	Clozapine	Antagonist
P21917	DB00408	Loxapine	Binder
P21917	DB00413	Pramipexole	Agonist
P21917	DB00477	Chlorpromazine	Binder
P21917	DB00490	Buspirone	Antagonist
P21917	DB00543	Amoxapine	Antagonist
P21917	DB00589	Lisuride	Agonist
P21917	DB00988	Dopamine	Agonist
P21917	DB01186	Pergolide	Agonist
P21917	DB01200	Bromocriptine	Antagonist
P21917	DB01224	Quetiapine	Ligand
P21917	DB01235	Levodopa	Agonist
P21917	DB01238	Aripiprazole	Antagonist\|Partial agonist
P21917	DB01403	Methotrimeprazine	Antagonist
P21917	DB04908	Flibanserin	Agonist\|Antagonist
P21917	DB04946	Iloperidone	Antagonist
P21917	DB06216	Asenapine	Antagonist
P21917	DB06477	Sumanirole
P21917	DB08922	Perospirone	Antagonist
P21917	DB12061	Pardoprunox
P21917	DB14185	Aripiprazole lauroxil

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Related Diseases

Diseases associated with this translation factor.
(DisGeNet 4.0)

Disease ID	Disease Name	# PubMeds	Disease source
C0001973	Alcoholic Intoxication, Chronic	5	PSYGENET
C0005586	Bipolar Disorder	5	PSYGENET
C0011570	Mental Depression	5	PSYGENET
C0011581	Depressive disorder	5	PSYGENET
C0041696	Unipolar Depression	5	PSYGENET
C1269683	Major Depressive Disorder	5	PSYGENET
C0024809	Marijuana Abuse	4	PSYGENET
C0041671	Attention Deficit Disorder	4	CTD_human
C0085159	Seasonal Affective Disorder	4	PSYGENET
C1263846	Attention deficit hyperactivity disorder	4	CTD_human
C1321905	Minimal Brain Dysfunction	4	CTD_human
C0001969	Alcoholic Intoxication	3	PSYGENET
C0085762	Alcohol abuse	2	PSYGENET
C0003477	Separation Anxiety Disorder	1	CTD_human
C0012734	Disruptive Behavior Disorder	1	CTD_human
C0029121	Oppositional Defiant Disorder	1	CTD_human
C0036341	Schizophrenia	1	CTD_human
C0040188	Tic disorder	1	CTD_human
C0040702	Transient Tic Disorder	1	CTD_human
C0233477	Dysphoric mood	1	PSYGENET
C0236804	Amphetamine Addiction	1	CTD_human
C0236807	Amphetamine Abuse	1	CTD_human
C0338468	Tic Disorders, Vocal	1	CTD_human
C0751553	Childhood Tic Disorders	1	CTD_human
C0751554	Motor Tic Disorders	1	CTD_human
C3160814	Cannabis use	1	PSYGENET