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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: 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

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Translation Studies in PubMed

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

Gene	Title	PMID
PLD1	.	.

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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
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

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

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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
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

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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

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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
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	PEA15	-2.11291245099903	0.00390625
CHOL	PLD1	RAC1	-2.53008160031864	0.00390625
CHOL	PLD1	RALA	-2.33863326941556	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	ARF6	-1.74265133745944	0.03125
READ	PLD1	CDC42	-2.89472372432256	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,

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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
PLD1	BLCA	chr3	171395468	171395468	A	G	Missense_Mutation		5
PLD1	LUAD	chr3	171395480	171395480	G	A	Missense_Mutation	p.P515L	4
PLD1	CESC	chr3	171338237	171338237	T	G	Silent		4
PLD1	CESC	chr3	171404478	171404478	C	A	Missense_Mutation		4
PLD1	SKCM	chr3	171452666	171452666	G	A	Missense_Mutation	p.L177F	3
PLD1	BRCA	chr3	171431831	171431831	A	G	Silent	p.L255	3
PLD1	UCEC	chr3	171405271	171405271	A	C	Missense_Mutation	p.L548R	3
PLD1	BRCA	chr3	171442510	171442510	C	T	Missense_Mutation	p.R245K	3
PLD1	HNSC	chr3	171451288	171451288	T	C	Silent	p.E184E	3
PLD1	STAD	chr3	171427500	171427500	C	A	Splice_Site		3
PLD1	LGG	chr3	171330202	171330202	G	A	Missense_Mutation	p.R879C	3
PLD1	COAD	chr3	171455388	171455388	C	T	Silent	p.T74T	3
PLD1	ESCA	chr3	171455451	171455452	-	A	Splice_Site	e2-2	3
PLD1	LUAD	chr3	171451267	171451267	T	C	Silent	p.L191L	3
PLD1	KIRP	chr3	171394619	171394619	G	A	Silent	p.F667F	3
PLD1	HNSC	chr3	171406608	171406608	T	C	Missense_Mutation	p.K466R	2
PLD1	STAD	chr3	171330147	171330147	T	G	Missense_Mutation	p.E935A	2
PLD1	BLCA	chr3	171404524	171404524	G	A	Silent	p.L606L	2
PLD1	UCEC	chr3	171455752	171455752	C	T	Silent	p.T30	2
PLD1	LIHC	chr3	171392389	171392389	T	-	Frame_Shift_Del	p.K672fs	2
PLD1	BRCA	chr3	171455363	171455363	C	T	Missense_Mutation	p.A83T	2
PLD1	STAD	chr3	171427395	171427395	C	T	Missense_Mutation	p.R339Q	2
PLD1	UCEC	chr3	171394540	171394540	C	T	Nonsense_Mutation	p.W584*	2
PLD1	SKCM	chr3	171406482	171406482	G	A	Missense_Mutation	p.S508F	2
PLD1	HNSC	chr3	171394576	171394576	C	T	Missense_Mutation	p.A644T	2
PLD1	LIHC	chr3	171395376	171395376	T	C	Missense_Mutation		2
PLD1	BLCA	chr3	171405270	171405270	C	T	Silent	p.L548L	2
PLD1	LIHC	chr3	171406568	171406568	C	-	Frame_Shift_Del	p.G479fs	2
PLD1	SKCM	chr3	171377080	171377080	G	A	Silent	p.F746F	2
PLD1	STAD	chr3	171320972	171320972	G	A	Missense_Mutation	p.R1041C	2
PLD1	UCEC	chr3	171395477	171395477	C	T	Missense_Mutation	p.G516D	2
PLD1	STAD	chr3	171410122	171410122	C	T	Silent		2
PLD1	HNSC	chr3	171431702	171431702	G	A	Nonsense_Mutation	p.R298*	2
PLD1	LGG	chr3	171455769	171455769	T	A	Missense_Mutation		2
PLD1	BLCA	chr3	171427487	171427487	T	C	Silent	p.L308L	2
PLD1	SARC	chr3	171320971	171320971	C	T	Missense_Mutation		2
PLD1	STAD	chr3	171451263	171451263	T	-	Frame_Shift_Del	p.M193fs	2
PLD1	LIHC	chr3	171455364	171455364	T	-	Frame_Shift_Del	p.K82fs	2
PLD1	SKCM	chr3	171320910	171320910	A	G	Silent	p.V1023V	2
PLD1	STAD	chr3	171338199	171338199	G	A	Missense_Mutation	p.A902V	2
PLD1	STAD	chr3	171452687	171452687	T	A	Missense_Mutation		2
PLD1	HNSC	chr3	171404477	171404477	G	A	Missense_Mutation	p.A622V	2
PLD1	LGG	chr3	171427368	171427368	T	C	Missense_Mutation		2
PLD1	SARC	chr3	171379896	171379896	G	T	Missense_Mutation		2
PLD1	UCEC	chr3	171405368	171405368	C	T	Missense_Mutation	p.A516T	2
PLD1	DLBC	chr3	171455820	171455820	G	A	Missense_Mutation	p.R8W	2
PLD1	LGG	chr3	171455769	171455769	T	A	Missense_Mutation	p.I25L	2
PLD1	SKCM	chr3	171379852	171379852	C	T	Missense_Mutation	p.E742K	2
PLD1	STAD	chr3	171392379	171392379	G	T	Missense_Mutation	p.L714I	2
PLD1	HNSC	chr3	171443857	171443857	G	A	Missense_Mutation	p.L206F	2
PLD1	LGG	chr3	171330202	171330202	G	A	Missense_Mutation		2
PLD1	PRAD	chr3	171431771	171431771	C	T	Missense_Mutation	p.V275I	2
PLD1	UCEC	chr3	171410153	171410153	C	A	Missense_Mutation	p.R436M	2
PLD1	LIHC	chr3	171405328	171405328	T	-	Frame_Shift_Del	p.N529fs	2
PLD1	STAD	chr3	171406484	171406484	C	T	Silent	p.P507P	2
PLD1	PRAD	chr3	171427351	171427351	A	G	Missense_Mutation	p.W354R	2
PLD1	STAD	chr3	171406503	171406503	T	G	Missense_Mutation	p.K501T	2
PLD1	UCEC	chr3	171410196	171410196	C	A	Nonsense_Mutation	p.E422*	2
PLD1	STAD	chr3	171379864	171379864	A	G	Missense_Mutation	p.Y776H	2
PLD1	LGG	chr3	171427368	171427368	T	C	Missense_Mutation	p.E348G	2
PLD1	CESC	chr3	171394595	171394595	C	G	Missense_Mutation		2
PLD1	STAD	chr3	171427373	171427373	G	A	Silent		2
PLD1	LUAD	chr3	171431773	171431773	A	T	Missense_Mutation	p.F274Y	2
PLD1	CHOL	chr3	171394504	171394504	C	T	Splice_Site		2
PLD1	UCEC	chr3	171410200	171410200	G	A	Silent	p.Y420	2
PLD1	BLCA	chr3	171404550	171404550	G	-	Frame_Shift_Del	p.H598fs	2
PLD1	SKCM	chr3	171405331	171405331	T	C	Missense_Mutation	p.K528R	2
PLD1	STAD	chr3	171427481	171427481	G	A	Silent	p.C310C	2
PLD1	UCEC	chr3	171321010	171321010	T	C	Missense_Mutation	p.E1028G	2
PLD1	STAD	chr3	171379954	171379954	G	A	Missense_Mutation	p.R746C	2
PLD1	CESC	chr3	171406541	171406541	G	A	Silent		2
PLD1	SKCM	chr3	171320999	171320999	G	A	Nonsense_Mutation	p.R994*	2
PLD1	BLCA	chr3	171455826	171455826	C	T	Missense_Mutation	p.E6K	2
PLD1	KIRP	chr3	171395429	171395429	G	A	Silent	p.T641T	2
PLD1	UCEC	chr3	171427438	171427438	C	A	Nonsense_Mutation	p.E325*	2
PLD1	SKCM	chr3	171455441	171455441	G	A	Missense_Mutation	p.P57S	2
PLD1	STAD	chr3	171455811	171455811	T	A	Missense_Mutation	p.T11S	2
PLD1	UCEC	chr3	171330169	171330169	C	T	Nonsense_Mutation	p.W190*	2
PLD1	KIRC	chr3	171394541	171394541	C	T	Nonsense_Mutation	p.W584*	2
PLD1	STAD	chr3	171330103	171330103	G	A	Missense_Mutation	p.R950W	2
PLD1	ESCA	chr3	171379880	171379880	T	C	Missense_Mutation		2
PLD1	CESC	chr3	171427491	171427491	A	G	Missense_Mutation		2
PLD1	STAD	chr3	171452687	171452687	T	A	Missense_Mutation	p.M170L	2
PLD1	HNSC	chr3	171395396	171395396	G	A	Missense_Mutation	p.S543L	2
PLD1	UCEC	chr3	171451295	171451295	T	C	Missense_Mutation	p.Q182R	2
PLD1	BRCA	chr3	171320875	171320875	C	G	Missense_Mutation	p.W1073S	2
PLD1	SKCM	chr3	171455442	171455442	G	A	Silent	p.I56I	2
PLD1	STAD	chr3	171405313	171405313	T	C	Missense_Mutation	p.N534S	2
PLD1	UCEC	chr3	171330197	171330197	G	A	Silent	p.A181V	2
PLD1	CESC	chr3	171406586	171406586	C	T	Silent		2
PLD1	STAD	chr3	171427373	171427373	G	A	Silent	p.I346I	2
PLD1	HNSC	chr3	171379875	171379875	T	-	Frame_Shift_Del	p.N734fs	2
PLD1	LUAD	chr3	171426597	171426597	C	A	Missense_Mutation	p.V365L	2
PLD1	UCEC	chr3	171455341	171455341	C	T	Missense_Mutation	p.R90H	2
PLD1	BRCA	chr3	171406629	171406629	T	C	Missense_Mutation	p.Y459C	2
PLD1	SKCM	chr3	171455813	171455813	T	C	Missense_Mutation	p.N10S	2
PLD1	STAD	chr3	171455827	171455827	G	A	Silent	p.N5N	2
PLD1	UCEC	chr3	171379852	171379852	C	T	Missense_Mutation	p.E780K	2
PLD1	HNSC	chr3	171431715	171431715	C	G	Silent	p.T293T	2
PLD1	CESC	chr3	171453323	171453323	G	C	Silent		2
PLD1	HNSC	chr3	171394572	171394572	G	A	Missense_Mutation	p.S683F	2
PLD1	LUAD	chr3	171404495	171404495	C	A	Missense_Mutation	p.G616V	2
PLD1	UCEC	chr3	171455712	171455712	C	T	Missense_Mutation	p.V44M	2
PLD1	BRCA	chr3	171417579	171417579	C	G	Missense_Mutation	p.E395Q	2
PLD1	SKCM	chr3	171330184	171330184	G	A	Missense_Mutation	p.R885C	2
PLD1	STAD	chr3	171453312	171453312	G	A	Missense_Mutation	p.A135V	2
PLD1	UCEC	chr3	171379891	171379891	C	T	Missense_Mutation	p.V767I	2
PLD1	SKCM	chr3	171321003	171321003	G	A	Silent	p.P992P	1
PLD1	STAD	chr3	171455832	171455832	T	C	Missense_Mutation	p.K4E	1
PLD1	GBM	chr3	171426553	171426553	T	C	Silent	p.T379T	1
PLD1	LGG	chr3	171426565	171426565	C	T	Silent	p.E375E	1
PLD1	LIHC	chr3	171426604	171426604	A	-	Frame_Shift_Del	p.F362fs	1
PLD1	BLCA	chr3	171427487	171427487	T	C	Silent		1
PLD1	CESC	chr3	171377057	171377057	A	T	Missense_Mutation	p.V792D	1
PLD1	OV	chr3	172845438	172845438	G	T	Silent	p.T833	1
PLD1	SKCM	chr3	171406614	171406614	T	A	Missense_Mutation	p.H464L	1
PLD1	LUAD	chr3	171410234	171410234	T	G	Splice_Site		1
PLD1	READ	chr3	171410184	171410184	C	T	Missense_Mutation	p.A426T	1
PLD1	UCEC	chr3	171455752	171455752	C	T	Silent	p.T30T	1
PLD1	HNSC	chr3	171451288	171451288	T	C	Silent		1
PLD1	HNSC	chr3	171323140	171323140	G	C	Missense_Mutation	p.F983L	1
PLD1	LIHC	chr3	171362704	171362704	A	G	Missense_Mutation		1
PLD1	LUAD	chr3	171394595	171394595	C	A	Missense_Mutation	p.G566V	1
PLD1	COAD	chr3	171362755	171362755	C	A	Missense_Mutation	p.D792Y	1
PLD1	KIRP	chr3	171395429	171395429	G	A	Missense_Mutation		1
PLD1	BLCA	chr3	171323192	171323192	T	C	Missense_Mutation		1
PLD1	LUSC	chr3	171330190	171330190	C	A	Nonsense_Mutation	p.G921*	1
PLD1	SKCM	chr3	171320999	171320999	G	A	Nonsense_Mutation	p.R994X	1
PLD1	HNSC	chr3	171338283	171338283	G	T	Nonsense_Mutation	p.S836*	1
PLD1	STAD	chr3	171330108	171330108	G	A	Missense_Mutation	p.A948V	1
PLD1	GBM	chr3	171330189	171330189	C	G	Missense_Mutation	p.G921A	1
PLD1	LGG	chr3	171417543	171417543	G	A	Nonsense_Mutation	p.R407*	1
PLD1	LIHC	chr3	171455704	171455704	G	-	Frame_Shift_Del	p.P46fs	1
PLD1	BLCA	chr3	171377064	171377064	C	A	Missense_Mutation		1
PLD1	CESC	chr3	171427491	171427491	A	G	Missense_Mutation	p.I307T	1
PLD1	OV	chr3	171338240	171338240	T	C	Silent	p.L888	1
PLD1	LUAD	chr3	171417558	171417558	C	T	Missense_Mutation	p.D402N	1
PLD1	READ	chr3	171452705	171452705	G	A	Missense_Mutation	p.P164S	1
PLD1	STAD	chr3	171455827	171455828	-	T	Frame_Shift_Ins	p.N5fs	1
PLD1	UCEC	chr3	171406633	171406633	C	T	Missense_Mutation	p.V458I	1
PLD1	HNSC	chr3	171394576	171394576	C	T	Missense_Mutation		1
PLD1	HNSC	chr3	171394568	171394568	T	G	Silent	p.A684A	1
PLD1	COAD	chr3	171379901	171379901	G	A	Silent	p.H725H	1
PLD1	KIRP	chr3	171394619	171394619	G	A	Missense_Mutation		1
PLD1	BLCA	chr3	171338225	171338225	G	C	Missense_Mutation		1
PLD1	LUSC	chr3	171330191	171330191	C	A	Silent	p.L920L	1
PLD1	HNSC	chr3	171406534	171406534	C	T	Missense_Mutation	p.E491K	1
PLD1	STAD	chr3	171392296	171392296	G	A	Silent	p.N741N	1
PLD1	GBM	chr3	171330189	171330189	C	G	Missense_Mutation		1
PLD1	LUAD	chr3	171377053	171377053	C	A	Silent	p.V755V	1
PLD1	BLCA	chr3	171392322	171392322	G	C	Missense_Mutation		1
PLD1	CESC	chr3	171394595	171394595	C	G	Missense_Mutation	p.G566A	1
PLD1	OV	chr3	171404519	171404519	T	A	Missense_Mutation	p.H608L	1
PLD1	SKCM	chr3	171320930	171320930	C	T	Missense_Mutation	p.E1017K	1
PLD1	COAD	chr3	171392294	171392294	A	G	Missense_Mutation	p.V704A	1
PLD1	LUAD	chr3	171406513	171406513	C	T	Missense_Mutation	p.G498S	1
PLD1	HNSC	chr3	171395396	171395396	G	A	Missense_Mutation		1
PLD1	HNSC	chr3	171394576	171394576	C	T	Missense_Mutation	p.A682T	1
PLD1	LIHC	chr3	171452760	171452760	T	C	Silent		1
PLD1	LUAD	chr3	171394539	171394539	G	A	Missense_Mutation	p.A656V	1
PLD1	HNSC	chr3	171338243	171338243	G	A	Silent	p.N849N	1
PLD1	LGG	chr3	171405256	171405256	T	C	Missense_Mutation	p.K553R	1
PLD1	BLCA	chr3	171455826	171455826	C	T	Missense_Mutation		1
PLD1	LUSC	chr3	171321028	171321028	T	A	Missense_Mutation	p.K1022M	1
PLD1	COAD	chr3	171455802	171455802	G	A	Silent	p.L14L	1
PLD1	STAD	chr3	171406516	171406516	C	T	Missense_Mutation	p.V497M	1
PLD1	HNSC	chr3	171431715	171431715	C	G	Silent		1
PLD1	LUAD	chr3	171330158	171330158	C	G	Silent	p.V893V	1
PLD1	BLCA	chr3	171377037	171377037	C	T	Missense_Mutation		1
PLD1	CESC	chr3	171406541	171406541	G	A	Silent	p.D488	1
PLD1	PAAD	chr3	171362786	171362786	G	T	Silent		1
PLD1	SKCM	chr3	171405333	171405333	A	G	Silent	p.D527D	1
PLD1	BLCA	chr3	171392322	171392322	G	C	Missense_Mutation	p.Q695E	1
PLD1	COAD	chr3	171394618	171394618	T	A	Missense_Mutation	p.I630F	1
PLD1	LUAD	chr3	171417564	171417565	-	C	Frame_Shift_Ins	p.V400fs	1
PLD1	STAD	chr3	171451290	171451290	C	A	Nonsense_Mutation	p.E184X	1
PLD1	UCEC	chr3	171330169	171330169	C	T	Missense_Mutation	p.A928T	1
PLD1	HNSC	chr3	171338243	171338243	G	A	Silent		1
PLD1	HNSC	chr3	171379875	171379875	T	-	Frame_Shift_Del	p.N772fs	1
PLD1	LIHC	chr3	171405344	171405344	T	C	Missense_Mutation		1
PLD1	LUAD	chr3	171395355	171395355	C	T	Splice_Site		1
PLD1	LIHC	chr3	171379923	171379923	T	-	Frame_Shift_Del	p.K718fs	1
PLD1	BLCA	chr3	171427406	171427406	G	C	Silent		1
PLD1	LUSC	chr3	171321035	171321035	T	C	Missense_Mutation	p.I1020V	1
PLD1	STAD	chr3	171406526	171406526	T	C	Silent	p.R493R	1
PLD1	HNSC	chr3	171394572	171394572	G	A	Missense_Mutation		1
PLD1	LUAD	chr3	171426594	171426594	C	G	Missense_Mutation	p.A366P	1
PLD1	BLCA	chr3	171443850	171443850	A	G	Missense_Mutation		1
PLD1	CESC	chr3	171406586	171406586	C	T	Silent	p.S473	1
PLD1	BLCA	chr3	171377037	171377037	C	T	Missense_Mutation	p.D761N	1
PLD1	COAD	chr3	171451243	171451243	A	G	Silent	p.Y199Y	1
PLD1	LUAD	chr3	171395446	171395446	C	T	Missense_Mutation	p.E636K	1
PLD1	SARC	chr3	171338213	171338213	G	T	Missense_Mutation		1
PLD1	STAD	chr3	171451291	171451291	C	A	Silent	p.L183L	1
PLD1	UCEC	chr3	171452738	171452738	C	T	Missense_Mutation	p.V153I	1
PLD1	HNSC	chr3	171443857	171443857	G	A	Missense_Mutation		1
PLD1	KIRC	chr3	171323102	171323102	G	T	Missense_Mutation	p.T996K	1
PLD1	LIHC	chr3	171455729	171455729	T	C	Missense_Mutation		1
PLD1	LUAD	chr3	171406666	171406666	C	A	Splice_Site	p.V447_splice	1
PLD1	ESCA	chr3	171379880	171379880	T	C	Missense_Mutation	p.I770M	1
PLD1	HNSC	chr3	171330139	171330139	G	C	Missense_Mutation	p.P900A	1
PLD1	BLCA	chr3	171431779	171431779	A	G	Missense_Mutation		1
PLD1	LUSC	chr3	171442514	171442514	C	T	Missense_Mutation	p.G244R	1
PLD1	SKCM	chr3	171452722	171452722	C	A	Missense_Mutation	p.R158L	1
PLD1	SKCM	chr3	171392375	171392375	G	A	Missense_Mutation	p.S677F	1
PLD1	STAD	chr3	171455388	171455388	C	T	Silent		1
PLD1	STAD	chr3	171451290	171451291	CC	AA	Nonsense_Mutation	p.E184*	1
PLD1	HNSC	chr3	171406608	171406608	T	C	Missense_Mutation		1
PLD1	HNSC	chr3	171323140	171323140	G	C	Missense_Mutation	p.F945L	1
PLD1	LGG	chr3	171392294	171392294	A	T	Missense_Mutation		1
PLD1	LUAD	chr3	171323120	171323120	G	A	Missense_Mutation	p.T952I	1
PLD1	BLCA	chr3	171323192	171323192	T	C	Missense_Mutation	p.Y928C	1
PLD1	CESC	chr3	171453323	171453323	G	C	Silent	p.L131	1
PLD1	BLCA	chr3	171405266	171405266	C	A	Nonsense_Mutation	p.G550*	1
PLD1	LUAD	chr3	171394595	171394595	C	A	Silent	p.R675R	1
PLD1	SARC	chr3	171452702	171452702	G	A	Missense_Mutation	p.R165C	1
PLD1	UCEC	chr3	171338255	171338255	C	T	Silent	p.E883E	1
PLD1	HNSC	chr3	171405194	171405194	C	G	Missense_Mutation		1
PLD1	KIRC	chr3	171330167	171330167	A	T	Silent	p.A928A	1
PLD1	LIHC	chr3	171453412	171453412	G	A	Missense_Mutation	p.L102F	1
PLD1	ESCA	chr3	171453400	171453400	C	A	Nonsense_Mutation	p.E106*	1
PLD1	HNSC	chr3	171394568	171394568	T	G	Missense_Mutation	p.Q575P	1
PLD1	LIHC	chr3	171394597	171394597	G	-	Frame_Shift_Del	p.R637fs	1
PLD1	BLCA	chr3	171410146	171410146	C	A	Missense_Mutation		1
PLD1	LUSC	chr3	171320967	171320967	T	C	Silent	p.G1042G	1
PLD1	SKCM	chr3	171395396	171395396	G	A	Silent	p.F614F	1
PLD1	SKCM	chr3	171427469	171427469	T	G	Missense_Mutation	p.R314S	1
PLD1	LUAD	chr3	171410226	171410226	C	G	Missense_Mutation	p.G412R	1
PLD1	PRAD	chr3	171427351	171427351	A	G	Splice_Site	p.W354_splice	1
PLD1	STAD	chr3	171455828	171455829	-	T	Frame_Shift_Ins	p.N5fs	1
PLD1	HNSC	chr3	171323140	171323140	G	C	Missense_Mutation		1
PLD1	HNSC	chr3	171394572	171394572	G	A	Missense_Mutation	p.S645F	1
PLD1	LGG	chr3	171392295	171392295	C	T	Missense_Mutation		1
PLD1	BLCA	chr3	171338225	171338225	G	C	Missense_Mutation	p.I855M	1
PLD1	LIHC	chr3	171406587	171406587	G	A	Missense_Mutation	p.S473L	1
PLD1	COAD	chr3	171455696	171455696	G	T	Missense_Mutation	p.P49H	1
PLD1	LUAD	chr3	171395480	171395480	G	A	Silent	p.T624T	1
PLD1	HNSC	chr3	171452730	171452730	C	A	Missense_Mutation		1
PLD1	KIRC	chr3	171377081	171377081	A	T	Missense_Mutation	p.F784Y	1
PLD1	SKCM	chr3	171427470	171427470	C	T	Missense_Mutation	p.R314K	1
PLD1	HNSC	chr3	171405194	171405194	C	G	Missense_Mutation	p.A574P	1
PLD1	LGG	chr3	171455389	171455389	G	A	Missense_Mutation	p.T74M	1
PLD1	LIHC	chr3	171426559	171426559	A	-	Frame_Shift_Del	p.F377fs	1
PLD1	LUSC	chr3	171406667	171406667	C	G	Splice_Site	p.V447_splice	1
PLD1	LUAD	chr3	171404573	171404573	T	C	Missense_Mutation	p.Y590C	1
PLD1	PRAD	chr3	171362776	171362776	G	T	Missense_Mutation	p.L785I	1
PLD1	STAD	chr3	171330094	171330094	G	T	Silent	p.R953R	1
PLD1	TGCT	chr3	171320907	171320907	C	T	Silent		1
PLD1	HNSC	chr3	171394568	171394568	T	G	Missense_Mutation		1
PLD1	HNSC	chr3	171452730	171452730	C	A	Missense_Mutation	p.E155D	1
PLD1	LGG	chr3	171417543	171417543	G	A	Nonsense_Mutation		1
PLD1	CHOL	chr3	171394504	171394504	C	T	Splice_Site	.	1
PLD1	LIHC	chr3	171395376	171395376	T	C	Missense_Mutation	p.Q659R	1
PLD1	BLCA	chr3	171338225	171338225	G	C	Missense_Mutation	p.I893M	1
PLD1	COAD	chr3	171431782	171431782	G	A	Missense_Mutation	p.A271V	1
PLD1	LUAD	chr3	171394539	171394539	G	A	Missense_Mutation	p.A694V	1
PLD1	HNSC	chr3	171405176	171405176	T	C	Missense_Mutation		1
PLD1	SKCM	chr3	171321024	171321024	G	A	Silent	p.P985P	1
PLD1	HNSC	chr3	171406539	171406539	T	C	Missense_Mutation	p.D489G	1
PLD1	LGG	chr3	171392295	171392295	C	T	Missense_Mutation	p.V704I	1
PLD1	LIHC	chr3	171320962	171320962	A	-	Frame_Shift_Del	p.L1006fs	1
PLD1	BLCA	chr3	171404524	171404524	G	A	Silent		1
PLD1	LUSC	chr3	171427430	171427430	G	A	Silent	p.I327I	1
PLD1	SKCM	chr3	171329403	171329403	G	A	Silent	p.V968V	1
PLD1	LUAD	chr3	171431716	171431716	G	A	Missense_Mutation	p.T293M	1
PLD1	READ	chr3	171451273	171451273	C	A	Missense_Mutation	p.K189N	1
PLD1	THCA	chr3	171404516	171404516	G	T	Missense_Mutation		1
PLD1	HNSC	chr3	171321023	171321023	C	T	Missense_Mutation		1
PLD1	LGG	chr3	171426565	171426565	C	T	Missense_Mutation		1
PLD1	LUAD	chr3	171329425	171329425	C	A	Splice_Site		1
PLD1	BLCA	chr3	171427406	171427406	G	C	Silent	p.L335L	1
PLD1	COAD	chr3	171330183	171330183	C	T	Missense_Mutation	p.R885H	1
PLD1	KIRP	chr3	171362716	171362716	T	C	Missense_Mutation	p.M843V	1
PLD1	LIHC	chr3	171443814	171443814	T	A	Missense_Mutation	p.K220M	1
PLD1	COAD	chr3	171431788	171431788	C	T	Missense_Mutation	p.S269N	1
PLD1	LUAD	chr3	171395355	171395355	C	T	Splice_Site	p.D666_splice	1
PLD1	HNSC	chr3	171406539	171406539	T	C	Missense_Mutation		1
PLD1	KIRC	chr3	171377081	171377081	A	T	Missense_Mutation	p.F746Y	1
PLD1	SKCM	chr3	171320939	171320939	A	C	Missense_Mutation	p.L1014V	1
PLD1	STAD	chr3	171410122	171410122	C	T	Splice_Site	p.K446_splice	1
PLD1	ESCA	chr3	171453400	171453400	C	A	Nonsense_Mutation	p.E106X	1
PLD1	HNSC	chr3	171405176	171405176	T	C	Missense_Mutation	p.I580V	1
PLD1	LGG	chr3	171392294	171392294	A	T	Missense_Mutation	p.V704E	1
PLD1	LIHC	chr3	171330071	171330071	A	-	Frame_Shift_Del	p.F922fs	1
PLD1	BLCA	chr3	171405270	171405270	C	T	Silent		1
PLD1	OV	chr3	172910088	172910088	T	A	Silent	p.R339	1
PLD1	SKCM	chr3	171330135	171330135	G	A	Missense_Mutation	p.S901L	1
PLD1	LUAD	chr3	171338216	171338216	G	T	Missense_Mutation	p.H858Q	1
PLD1	READ	chr3	171451300	171451300	C	A	Splice_Site	.	1
PLD1	THYM	chr3	171394561	171394561	C	T	Missense_Mutation		1
PLD1	HNSC	chr3	171404477	171404477	G	A	Missense_Mutation		1
PLD1	LGG	chr3	171455389	171455389	G	A	Missense_Mutation		1
PLD1	BLCA	chr3	171431779	171431779	A	G	Missense_Mutation	p.I272T	1
PLD1	COAD	chr3	171338182	171338182	T	C	Missense_Mutation	p.I870V	1
PLD1	KIRP	chr3	171394619	171394619	G	A	Missense_Mutation	p.S558L	1
PLD1	LIHC	chr3	171395376	171395376	T	C	Missense_Mutation	p.Q621R	1
PLD1	LUAD	chr3	171406666	171406666	C	A	Missense_Mutation	p.V447L	1
PLD1	HNSC	chr3	171330139	171330139	G	C	Missense_Mutation		1
PLD1	KIRC	chr3	171323102	171323102	G	T	Missense_Mutation	p.T958K	1
PLD1	SKCM	chr3	171321004	171321004	G	T	Missense_Mutation	p.P992H	1
PLD1	STAD	chr3	171431737	171431737	A	G	Missense_Mutation	p.V286A	1
PLD1	ESCA	chr3	171394539	171394539	G	T	Missense_Mutation	p.A694E	1
PLD1	LGG	chr3	171330140	171330140	A	G	Silent	p.V899V	1
PLD1	LIHC	chr3	171330119	171330119	T	-	Frame_Shift_Del	p.K906fs	1
PLD1	BLCA	chr3	171404550	171404550	G	-	Frame_Shift_Del		1
PLD1	OV	chr3	172877216	172877216	G	C	Missense_Mutation	p.R700G	1
PLD1	SKCM	chr3	171405323	171405323	G	A	Missense_Mutation	p.P531S	1
PLD1	LUAD	chr3	171431738	171431738	C	A	Missense_Mutation	p.V286L	1
PLD1	READ	chr3	171320914	171320914	G	T	Missense_Mutation	p.S1022Y	1
PLD1	STAD	chr3	171410122	171410122	C	T	Silent	p.K446K	1
PLD1	UCEC	chr3	171410200	171410200	G	A	Silent	p.Y420Y	1
PLD1	HNSC	chr3	171379875	171379875	T	-	Frame_Shift_Del		1
PLD1	LIHC	chr3	171406587	171406587	G	A	Missense_Mutation		1
PLD1	BLCA	chr3	171410146	171410146	C	A	Missense_Mutation	p.L438F	1
PLD1	COAD	chr3	171360630	171360630	G	A	Missense_Mutation	p.L827F	1
PLD1	KIRP	chr3	171395429	171395429	G	A	Silent	p.T603T	1
PLD1	LIHC	chr3	171451258	171451258	G	-	Frame_Shift_Del	p.P194fs	1
PLD1	LUSC	chr3	171377037	171377037	C	T	Missense_Mutation	p.D799N	1
PLD1	HNSC	chr3	171406534	171406534	C	T	Missense_Mutation		1

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	+

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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
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

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

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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
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

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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