Home

Download

Statistics

Examples

Help

Contact

	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: PLD1 (NCBI Gene ID:5337)

Gene Summary

Gene Summary

Gene Information	Gene Name: PLD1
	Gene ID: 5337
	Gene Symbol	PLD1
	Gene ID	5337
	Gene Name	phospholipase D1
	Synonyms	CVDD
	Cytomap	3q26.31
	Type of Gene	protein-coding
	Description	phospholipase D1choline phosphatase 1phosphatidylcholine-hydrolyzing phospholipase D1phospholipase D1, phosphatidylcholine-specific
	Modification date	20200313
	UniProtAcc	Q13393

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

GO ID	GO term
GO:0006417	Regulation of translation
GO:0045727	Positive regulation of translation
GO:0006412	Translation

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

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	PLD1	GO:0098693	regulation of synaptic vesicle cycle	11752468

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

Top

Translation Studies in PubMed

We searched PubMed using 'PLD1[title] AND translation [title] AND human.'

Gene	Title	PMID
PLD1	.	.

Top

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
ENST00000351298	171323088	171323206	Frame-shift
ENST00000351298	171338175	171338310	In-frame
ENST00000351298	171394504	171394623	Frame-shift
ENST00000351298	171404474	171404588	In-frame
ENST00000351298	171406465	171406666	In-frame
ENST00000351298	171417534	171417616	Frame-shift
ENST00000351298	171431682	171431835	In-frame
ENST00000351298	171451233	171451299	In-frame
ENST00000351298	171453281	171453427	Frame-shift
ENST00000351298	171455321	171455449	Frame-shift

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)
ENST00000351298	171338175	171338310	5621	2721	2855	1074	864	909
ENST00000351298	171404474	171404588	5621	1881	1994	1074	584	622
ENST00000351298	171406465	171406666	5621	1466	1666	1074	446	513
ENST00000351298	171431682	171431835	5621	886	1038	1074	253	303
ENST00000351298	171451233	171451299	5621	668	733	1074	180	202

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.
Q13393	864	909	1	1074	Chain	ID=PRO_0000218802;Note=Phospholipase D1
Q13393	584	622	1	1074	Chain	ID=PRO_0000218802;Note=Phospholipase D1
Q13393	446	513	1	1074	Chain	ID=PRO_0000218802;Note=Phospholipase D1
Q13393	180	202	1	1074	Chain	ID=PRO_0000218802;Note=Phospholipase D1
Q13393	253	303	1	1074	Chain	ID=PRO_0000218802;Note=Phospholipase D1
Q13393	180	202	81	212	Domain	Note=PX;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00147
Q13393	253	303	219	328	Domain	Note=PH
Q13393	446	513	459	486	Domain	Note=PLD phosphodiesterase 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00153
Q13393	864	909	891	918	Domain	Note=PLD phosphodiesterase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00153
Q13393	864	909	463	928	Region	Note=Catalytic
Q13393	584	622	463	928	Region	Note=Catalytic
Q13393	446	513	463	928	Region	Note=Catalytic
Q13393	446	513	499	499	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P70496
Q13393	584	622	514	597	Alternative sequence	ID=VSP_005018;Note=In isoform PLD1C. PAAMESMESLRLKDKNEPVQNLPIQKSIDDVDSKLKGIGKPRKFSKFSLYKQLHRHHLHDADSISSIDSTSSYFNHYRSHHNLI->IPGPSVVYRQVWESCMGKPDSGMERTTAISSSKTGFNLINLLLISLTGTPRPGCPGMTLPLQSTGRRLVMWHVTSSSAGTSQKL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9761774;Dbxref=PMID:9761774
Q13393	584	622	585	623	Alternative sequence	ID=VSP_005020;Note=In isoform PLD1B. SYFNHYRSHHNLIHGLKPHFKLFHPSSESEQGLTRPHAD->N;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:9013646,ECO:0000303\|PubMed:9761774;Dbxref=PMID:9013646,PMID:9761774
Q13393	864	909	598	1074	Alternative sequence	ID=VSP_005019;Note=In isoform PLD1C. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9761774;Dbxref=PMID:9761774
Q13393	584	622	598	1074	Alternative sequence	ID=VSP_005019;Note=In isoform PLD1C. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9761774;Dbxref=PMID:9761774
Q13393	584	622	622	622	Natural variant	ID=VAR_022056;Note=A->S;Dbxref=dbSNP:rs2290480

Top

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
COAD	PLD1	-1.12098161036852	0.000125885009765625
LIHC	PLD1	-1.62830449039974	2.71217975233539e-06
PRAD	PLD1	1.32347553644204	6.82006084794761e-08

Top

Expression Regulation

Translation factor expression regulation through miRNA binding

Cancer type	Gene	miRNA	TargetScan binding score (Context++ score percentile)	Coefficient	Pvalue
ESCA	PLD1	hsa-miR-195-5p	70	-0.319718256427117	0.00449029252401903
MESO	PLD1	hsa-miR-195-5p	70	0.300097370983447	0.00740916109225793
MESO	PLD1	hsa-miR-497-5p	72	0.335710808179163	0.00261357953918246

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
THCA	PLD1	2	3	0.0203281930481319	0.585741045751634	0.647273857965451	0.838389158079768	1.15425296824903
UCEC	PLD1	2	3	0.043439337908861	0.525368702493343	0.617324444444444	-0.0231897090225495	-0.5207905804821

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
THCA	PLD1	0.139053638	0.032095586
HNSC	PLD1	-0.027939621	0.035274429
LGG	PLD1	-0.029593531	0.041258614

Top

Associated Genes

Strongly correlated genes belong to cellular important gene groups with PLD1 (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
DLBC	CGC	PLD1	CSF1R	0.856341019	8.51E-15
DLBC	IUPHAR	PLD1	CD4	0.804466308	5.65E-12
DLBC	IUPHAR	PLD1	CSF1R	0.856341019	8.51E-15
DLBC	Kinase	PLD1	CSF1R	0.856341019	8.51E-15
DLBC	TSG	PLD1	CD4	0.804466308	5.65E-12
DLBC	TSG	PLD1	VWA5A	0.860321711	4.67E-15
LGG	Cell metabolism gene	PLD1	GALNT6	0.811386267	3.14E-125
LGG	Cell metabolism gene	PLD1	ELOVL1	0.825132921	4.79E-133
LGG	IUPHAR	PLD1	LPAR1	0.804983363	8.36E-122
LGG	IUPHAR	PLD1	SLC31A2	0.820144048	3.93E-130

Top

Protein structure

Protein 3D structure
Visit iCn3D.

Top

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
COAD	PLD1	CDC42	-2.2640573059658	0.000125885009765625
COAD	PLD1	ARF6	-1.104841555249	0.00032070279121399
HNSC	PLD1	PRKCA	-1.05859058726713	0.000333792391984389
LUSC	PLD1	CDC42	-1.32952300607616	0.000431975220131112
BRCA	PLD1	SCAMP2	-1.34813984986786	0.000829358826573525
PRAD	PLD1	PEA15	1.70578722321689	0.000901881259820622
BRCA	PLD1	RAC1	-2.57086203268455	0.000931902714140024
HNSC	PLD1	SCAMP2	-1.63608201164034	0.00135036232768471
COAD	PLD1	RALA	1.23419838406538	0.00144392251968384
KIRC	PLD1	CDC42	-1.22188486751084	0.00220467399393826
PRAD	PLD1	ARF1	1.25327075473145	0.00224782609453915
LUAD	PLD1	SCAMP2	-1.0991684840483	0.00360132396039711
CHOL	PLD1	RALA	-2.33863326941556	0.00390625
CHOL	PLD1	RAC1	-2.53008160031864	0.00390625
CHOL	PLD1	PEA15	-2.11291245099903	0.00390625
STAD	PLD1	RHOA	-1.41193589695659	0.00471024587750435
THCA	PLD1	ARF6	-1.26253000563379	0.00621643284121573
COAD	PLD1	PRKCA	-1.15779532669608	0.00729089975357057
CHOL	PLD1	SCAMP2	-1.27510663369598	0.0078125
LUSC	PLD1	RALA	-1.08095321977716	0.00855715492782793
BLCA	PLD1	ARF1	-2.85492040338458	0.014068603515625
COAD	PLD1	RHOA	-1.35466527140618	0.0163331627845764
READ	PLD1	CDC42	-2.89472372432256	0.03125
READ	PLD1	ARF6	-1.74265133745944	0.03125
THCA	PLD1	SCAMP2	-2.42844203645659	0.0323667948438998
PRAD	PLD1	ARF6	1.86156499625692	1.02073776774091e-07
BRCA	PLD1	CDC42	1.53775410810954	1.344517500009e-07
PRAD	PLD1	PRKCA	-3.47666621249232	1.35699423901536e-06
LIHC	PLD1	RHOA	-1.12608618743874	1.38856254833826e-06
PRAD	PLD1	RHOA	1.24204655661997	1.48677209176304e-06
KIRC	PLD1	PRKCA	-2.05183038862479	1.84821705533328e-12
KIRC	PLD1	ARF1	-1.3497769633198	1.88365218821087e-07
COAD	PLD1	SCAMP2	-1.67884016980444	2.62260437011719e-06
LIHC	PLD1	PEA15	-1.37093304116939	3.269516825115e-09
THCA	PLD1	PEA15	-1.81142675544633	3.8341221298895e-09
KIRC	PLD1	RAC1	-2.09559724682472	5.02509952386241e-05
LUAD	PLD1	RHOA	-1.27824636836466	5.24732369463512e-07
THCA	PLD1	PRKCA	1.9298021549374	5.35914250842086e-10
KIRC	PLD1	RALA	-1.03492556822076	5.40770022916002e-07
LUSC	PLD1	SCAMP2	-3.07340305102941	7.19742900589893e-05
BRCA	PLD1	PRKCA	1.95237423033604	7.45942677942127e-26

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

PPI interactors with PLD1

PRKCA, SRC, RHOA, Actb, AMPH, BIN1, SNCA, PEA15, PKN1, RALA, ARF1, ARF6, CDC42, PLCG2, ACTG1, RHEB, HIF1A, EGLN1, VHL, KCTD17, SPACA1, TEX264, ZRANB2, MIER2, C1orf186, POLH, CEP135, ATP6AP2, ING3, Hsph1, Klc2, Coro1c, Tmed2, GPR156, CACNG5, UBE2O, CDH5, TNFRSF19, OSBPL5, C5AR2, APBA2, Ap3b1, KIAA1429, CSK, LMO7, S100A10, ORF3a, M, ORF7b, S, ANLN, KIF14, BRD3, NPC1, MKRN2, TP53, GJD3, KRAS, LAMP1, LAMP2, LAMP3, LAMTOR1, LYN, MARCKS, RAB11A, RAB2A, RAB35, RAB5C, RAB9A, RHOB, DDX39A, ASIC2, HEATR3, PTGES3, CXCR4, LURAP1, TMEM74, BACH2, FTL, AKAP11, CLSTN1, AHCYL1, ZCCHC10, TMEM63C, MAGEA9, RYK, SLC31A1, KCNA4, DNAJB5, PRKAR1B, LTBP2, PER2, GPT, C15orf59, EIF2B5, MCC, PIPSL, CCDC85A, FAXC, ANKS3, CD6, SIRT1, CFL1,

Top

Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
PLD1	chr3	171320606	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
PLD1	chr3	171320907	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
PLD1	chr3	171321009	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
PLD1	chr3	171321023	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171321314	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171322874	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171323305	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171323393	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171329976	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171329981	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171330067	A	G	single_nucleotide_variant	Pathogenic	Cardiac_valvular_defect,_developmental	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
PLD1	chr3	171330099	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171338223	T	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171338237	T	G	single_nucleotide_variant	Benign	Cardiac_valvular_defect,_developmental\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
PLD1	chr3	171360654	T	C	single_nucleotide_variant	Uncertain_significance	Cardiac_valvular_defect,_developmental	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171360932	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171362699	C	A	single_nucleotide_variant	Likely_pathogenic	Cardiac_valvular_defect,_developmental	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
PLD1	chr3	171362712	T	C	single_nucleotide_variant	Likely_pathogenic	Inborn_genetic_diseases	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171362785	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171362804	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
PLD1	chr3	171362814	C	T	single_nucleotide_variant	Pathogenic	not_provided	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
PLD1	chr3	171362931	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171362977	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171377041	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171377241	A	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171379537	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171379901	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
PLD1	chr3	171380174	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171394331	CT	C	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171394522	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171394537	G	A	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171394630	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171394825	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171395025	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171395280	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171395323	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171395370	T	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171395371	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171395415	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171395468	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
PLD1	chr3	171404478	C	A	single_nucleotide_variant	Benign	Cardiac_valvular_defect,_developmental\|not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
PLD1	chr3	171404592	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171405160	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
PLD1	chr3	171405198	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
PLD1	chr3	171405231	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
PLD1	chr3	171405256	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171405371	C	T	single_nucleotide_variant	Uncertain_significance	Cardiac_valvular_defect,_developmental	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171405373	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171405424	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171406471	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171406519	CTG	C	Microsatellite	Likely_pathogenic	Cardiac_valvular_defect,_developmental\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
PLD1	chr3	171406549	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
PLD1	chr3	171406588	AT	A	Deletion	Uncertain_significance	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
PLD1	chr3	171406601	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
PLD1	chr3	171406640	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
PLD1	chr3	171406820	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171410135	T	G	single_nucleotide_variant	Pathogenic	Cardiac_valvular_defect,_developmental	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171410141	C	T	single_nucleotide_variant	Uncertain_significance	Cardiac_valvular_defect,_developmental	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171410222	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171410240	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171410489	C	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171410526	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171410557	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171417542	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171417543	G	A	single_nucleotide_variant	Likely_pathogenic	Cardiac_valvular_defect,_developmental	SO:0001587\|nonsense	SO:0001587\|nonsense
PLD1	chr3	171417570	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171417824	T	TTCTCTC	Microsatellite	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171426761	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171427545	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171427581	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171431701	C	T	single_nucleotide_variant	Uncertain_significance	Cardiac_valvular_defect,_developmental	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171431714	T	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
PLD1	chr3	171431726	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171431790	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
PLD1	chr3	171442291	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171442387	T	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171442635	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171442750	AG	A	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171442774	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171443597	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171443607	C	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171443735	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171443868	T	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
PLD1	chr3	171443955	T	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171443979	A	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171452399	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171452403	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171452436	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171452645	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171452696	AT	A	Deletion	Likely_pathogenic	Cardiac_valvular_defect,_developmental	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
PLD1	chr3	171452701	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171453651	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171455188	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171455313	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PLD1	chr3	171455697	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171455701	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
PLD1	chr3	171455739	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171455751	G	A	single_nucleotide_variant	Uncertain_significance	Cardiac_valvular_defect,_developmental	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PLD1	chr3	171455812	A	G	single_nucleotide_variant	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

Copy number variation (CNV) of PLD1
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across PLD1
* 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
95721	LUSC	TCGA-46-6026-01A	MGAT4C	chr12	86443452	-	PLD1	chr3	171455872	-
95721	BRCA	TCGA-AO-A03P-01A	OSBPL2	chr20	60838747	+	PLD1	chr3	171338310	-
95721	Non-Cancer	5373N	PHC3	chr3	169889160	-	PLD1	chr3	171443866	-
89404	ESCA	TCGA-L5-A8NG	PLD1	chr3	171528188	-	ATP1B3	chr3	141622461	+
92695	LUSC	TCGA-63-A5MP-01A	PLD1	chr3	171528189	-	FNDC3B	chr3	171830242	+
66086	PRAD	TCGA-Y6-A9XI-01A	PLD1	chr3	171488985	-	LMBR1	chr7	156629579	-
94676	ESCA	TCGA-L5-A8NJ	PLD1	chr3	171528188	-	MEIS1	chr2	66739280	+
85779	N/A	BQ351523	PLD1	chr3	171510388	+	RPS19	chr19	42373208	-
66086	STAD	TCGA-VQ-AA6B-01A	PLD1	chr3	171338176	-	SLC7A14	chr3	170219134	-
102054	LUSC	TCGA-56-7580-01A	PLD1	chr3	171528189	-	TNFSF10	chr3	172232788	-
103149	STAD	TCGA-HU-8604	PLD1	chr3	171528188	-	ZBTB7A	chr19	4055245	-
95721	N/A	AX186924	PRR5-ARHGAP8	chr22	45168135	+	PLD1	chr3	171477175	+
95721	N/A	AW862982	RMDN3	chr15	41028455	+	PLD1	chr3	171445323	+
95721	N/A	AX187938	SPTLC2	chr14	78017734	-	PLD1	chr3	171477175	+
95721	BRCA	TCGA-EW-A1P4	TFDP2	chr3	141747420	-	PLD1	chr3	171455872	-
95721	BRCA	TCGA-EW-A1P4-01A	TFDP2	chr3	141747421	-	PLD1	chr3	171455872	-
95721	BRCA	TCGA-EW-A1P4-01A	TFDP2	chr3	141811903	-	PLD1	chr3	171455872	-
95721	BRCA	TCGA-EW-A1P4-01A	TFDP2	chr3	141811903	-	PLD1	chr3	171507325	-
95735	N/A	AX185498	TYW1	chr7	66583866	-	PLD1	chr3	171477175	+

Top

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

Top

Translation factor and Gender

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

Cancer type	Translation factor	pval	adj.p
BLCA	PLD1	0.00186767268745998	0.05
ACC	PLD1	0.0299053963155853	0.78
STAD	PLD1	0.043837965063244	1
TGCT	PLD1	0.0452907458711372	1
PCPG	PLD1	0.0469376562892572	1
LUSC	PLD1	0.0484031919660904	1
BRCA	PLD1	0.0489377572097454	1
LIHC	PLD1	9.42988392598127e-06	0.00026

Top

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
KIRC	PLD1	0.0207911960064122	0.64
BRCA	PLD1	6.41578924934915e-09	2.1e-07
THYM	PLD1	0.00157939453664745	0.051

Top

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
Q13393	DB00122	Choline	Product of	Small molecule	Approved\|Nutraceutical
Q13393	DB05301	LAX-101		Small molecule	Investigational
Q13393	DB14006	Choline salicylate	Product of	Small molecule	Approved\|Nutraceutical
Q13393	DB00122	Choline	Product of
Q13393	DB05301	LAX-101
Q13393	DB14006	Choline salicylate	Product of

Top

Related Diseases

Diseases associated with this translation factor.
(DisGeNet 4.0)

Disease ID	Disease Name	# PubMeds	Disease source
C0740376	Middle Cerebral Artery Thrombosis	1	CTD_human
C0740391	Middle Cerebral Artery Occlusion	1	CTD_human
C0740392	Infarction, Middle Cerebral Artery	1	CTD_human
C1859330	Cardiac Valvular Defect, Developmental	1	GENOMICS_ENGLAND;UNIPROT