ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for PLD3

Gene summary

Gene information	Gene symbol	PLD3
	Gene ID	23646
	Gene name	phospholipase D family member 3
	Synonyms	AD19\|HU-K4\|HUK4\|SCA46
	Cytomap	19q13.2
	Type of gene	protein-coding
	Description	phospholipase D3choline phosphatase 3hindIII K4L homologphosphatidylcholine-hydrolyzing phospholipase D3
	Modification date	20180519
	UniProtAcc	Q8IV08
	Context	PubMed: PLD3 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene

GO ID

GO term

PubMed ID

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Exon skipping events across known transcript of Ensembl for PLD3 from UCSC genome browser

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.

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Gene isoform structures and expression levels for PLD3

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for PLD3

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_307074	19	40854606:40854631:40871459:40871492:40871624:40871837	40871459:40871492	ENSG00000105223.14	ENST00000392032.2
exon_skip_307079	19	40854606:40854631:40871459:40871492:40872325:40872371	40871459:40871492	ENSG00000105223.14	ENST00000356508.5
exon_skip_307083	19	40854606:40854631:40871459:40871837:40872325:40872371	40871459:40871837	ENSG00000105223.14	ENST00000598962.1
exon_skip_307098	19	40854606:40854631:40871624:40871837:40872325:40872371	40871624:40871837	ENSG00000105223.14	ENST00000600479.1
exon_skip_307110	19	40854610:40854675:40871459:40871492:40872290:40872417	40871459:40871492	ENSG00000105223.14	ENST00000596682.1
exon_skip_307112	19	40854610:40854675:40871459:40871492:40872325:40872371	40871459:40871492	ENSG00000105223.14	ENST00000594908.1
exon_skip_307116	19	40854610:40854675:40871459:40871837:40872325:40872371	40871459:40871837	ENSG00000105223.14	ENST00000594085.1
exon_skip_307125	19	40854610:40854675:40871568:40871837:40872325:40872371	40871568:40871837	ENSG00000105223.14	ENST00000600948.1
exon_skip_307130	19	40854610:40854675:40871624:40871837:40872290:40872417	40871624:40871837	ENSG00000105223.14	ENST00000409587.1
exon_skip_307132	19	40854610:40854675:40871624:40871837:40872325:40872371	40871624:40871837	ENSG00000105223.14	ENST00000409735.4
exon_skip_307150	19	40871459:40871492:40871624:40871837:40872290:40872417	40871624:40871837	ENSG00000105223.14	ENST00000392032.2
exon_skip_307158	19	40871801:40871837:40872290:40872417:40872516:40872551	40872290:40872417	ENSG00000105223.14	ENST00000392032.2,ENST00000409587.1
exon_skip_307160	19	40871801:40871837:40872325:40872417:40872516:40872551	40872325:40872417	ENSG00000105223.14	ENST00000409735.4,ENST00000598962.1,ENST00000600948.1,ENST00000409281.1,ENST00000493006.1
exon_skip_307163	19	40872378:40872417:40872516:40872591:40872679:40872710	40872516:40872591	ENSG00000105223.14	ENST00000599685.1,ENST00000392032.2,ENST00000602131.1,ENST00000594908.1,ENST00000409735.4,ENST00000409587.1,ENST00000596682.1,ENST00000600948.1,ENST00000359274.5,ENST00000409281.1,ENST00000356508.5,ENST00000409419.1,ENST00000493006.1
exon_skip_307166	19	40872516:40872591:40872679:40872822:40873602:40873716	40872679:40872822	ENSG00000105223.14	ENST00000392032.2,ENST00000602131.1,ENST00000594908.1,ENST00000409735.4,ENST00000409587.1,ENST00000359274.5,ENST00000409281.1,ENST00000356508.5,ENST00000409419.1
exon_skip_307171	19	40872786:40872822:40873507:40873786:40875814:40875865	40873507:40873786	ENSG00000105223.14	ENST00000492243.1
exon_skip_307172	19	40872786:40872822:40873602:40873786:40875814:40875865	40873602:40873786	ENSG00000105223.14	ENST00000594908.1,ENST00000409735.4,ENST00000409587.1,ENST00000359274.5,ENST00000409281.1,ENST00000356508.5,ENST00000409419.1
exon_skip_307174	19	40873616:40873786:40875814:40875935:40876016:40876107	40875814:40875935	ENSG00000105223.14	ENST00000594908.1,ENST00000409735.4,ENST00000409587.1,ENST00000492243.1,ENST00000409281.1,ENST00000356508.5,ENST00000409419.1
exon_skip_307179	19	40876016:40876144:40877579:40877780:40880387:40880527	40877579:40877780	ENSG00000105223.14	ENST00000409735.4,ENST00000409587.1,ENST00000409281.1,ENST00000356508.5,ENST00000409419.1
exon_skip_307180	19	40877698:40877780:40880387:40880527:40882515:40882681	40880387:40880527	ENSG00000105223.14	ENST00000596470.1,ENST00000409735.4,ENST00000409587.1,ENST00000409281.1,ENST00000356508.5,ENST00000409419.1
exon_skip_307186	19	40882515:40882681:40883692:40883792:40883892:40883967	40883692:40883792	ENSG00000105223.14	ENST00000596470.1,ENST00000409735.4,ENST00000409587.1,ENST00000488311.1,ENST00000409281.1,ENST00000356508.5,ENST00000409419.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for PLD3

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_307074	19	40854606:40854631:40871459:40871492:40871624:40871837	40871459:40871492	ENSG00000105223.14	ENST00000392032.2
exon_skip_307079	19	40854606:40854631:40871459:40871492:40872325:40872371	40871459:40871492	ENSG00000105223.14	ENST00000356508.5
exon_skip_307083	19	40854606:40854631:40871459:40871837:40872325:40872371	40871459:40871837	ENSG00000105223.14	ENST00000598962.1
exon_skip_307098	19	40854606:40854631:40871624:40871837:40872325:40872371	40871624:40871837	ENSG00000105223.14	ENST00000600479.1
exon_skip_307110	19	40854610:40854675:40871459:40871492:40872290:40872417	40871459:40871492	ENSG00000105223.14	ENST00000596682.1
exon_skip_307112	19	40854610:40854675:40871459:40871492:40872325:40872371	40871459:40871492	ENSG00000105223.14	ENST00000594908.1
exon_skip_307116	19	40854610:40854675:40871459:40871837:40872325:40872371	40871459:40871837	ENSG00000105223.14	ENST00000594085.1
exon_skip_307125	19	40854610:40854675:40871568:40871837:40872325:40872371	40871568:40871837	ENSG00000105223.14	ENST00000600948.1
exon_skip_307130	19	40854610:40854675:40871624:40871837:40872290:40872417	40871624:40871837	ENSG00000105223.14	ENST00000409587.1
exon_skip_307132	19	40854610:40854675:40871624:40871837:40872325:40872371	40871624:40871837	ENSG00000105223.14	ENST00000409735.4
exon_skip_307150	19	40871459:40871492:40871624:40871837:40872290:40872417	40871624:40871837	ENSG00000105223.14	ENST00000392032.2
exon_skip_307158	19	40871801:40871837:40872290:40872417:40872516:40872551	40872290:40872417	ENSG00000105223.14	ENST00000392032.2,ENST00000409587.1
exon_skip_307160	19	40871801:40871837:40872325:40872417:40872516:40872551	40872325:40872417	ENSG00000105223.14	ENST00000598962.1,ENST00000409735.4,ENST00000600948.1,ENST00000409281.1,ENST00000493006.1
exon_skip_307163	19	40872378:40872417:40872516:40872591:40872679:40872710	40872516:40872591	ENSG00000105223.14	ENST00000599685.1,ENST00000392032.2,ENST00000409419.1,ENST00000409587.1,ENST00000602131.1,ENST00000409735.4,ENST00000600948.1,ENST00000356508.5,ENST00000596682.1,ENST00000594908.1,ENST00000409281.1,ENST00000493006.1,ENST00000359274.5
exon_skip_307166	19	40872516:40872591:40872679:40872822:40873602:40873716	40872679:40872822	ENSG00000105223.14	ENST00000392032.2,ENST00000409419.1,ENST00000409587.1,ENST00000602131.1,ENST00000409735.4,ENST00000356508.5,ENST00000594908.1,ENST00000409281.1,ENST00000359274.5
exon_skip_307171	19	40872786:40872822:40873507:40873786:40875814:40875865	40873507:40873786	ENSG00000105223.14	ENST00000492243.1
exon_skip_307172	19	40872786:40872822:40873602:40873786:40875814:40875865	40873602:40873786	ENSG00000105223.14	ENST00000409419.1,ENST00000409587.1,ENST00000409735.4,ENST00000356508.5,ENST00000594908.1,ENST00000409281.1,ENST00000359274.5
exon_skip_307174	19	40873616:40873786:40875814:40875935:40876016:40876107	40875814:40875935	ENSG00000105223.14	ENST00000409419.1,ENST00000409587.1,ENST00000409735.4,ENST00000356508.5,ENST00000594908.1,ENST00000409281.1,ENST00000492243.1
exon_skip_307179	19	40876016:40876144:40877579:40877780:40880387:40880527	40877579:40877780	ENSG00000105223.14	ENST00000409419.1,ENST00000409587.1,ENST00000409735.4,ENST00000356508.5,ENST00000409281.1
exon_skip_307180	19	40877698:40877780:40880387:40880527:40882515:40882681	40880387:40880527	ENSG00000105223.14	ENST00000409419.1,ENST00000409587.1,ENST00000409735.4,ENST00000356508.5,ENST00000409281.1,ENST00000596470.1
exon_skip_307186	19	40882515:40882681:40883692:40883792:40883892:40883967	40883692:40883792	ENSG00000105223.14	ENST00000409419.1,ENST00000409587.1,ENST00000409735.4,ENST00000356508.5,ENST00000409281.1,ENST00000596470.1,ENST00000488311.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for PLD3

Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000409587	40872290	40872417	5CDS-5UTR
ENST00000409281	40872325	40872417	5CDS-5UTR
ENST00000409735	40872325	40872417	5CDS-5UTR
ENST00000356508	40871459	40871492	5UTR-5UTR
ENST00000409587	40871624	40871837	5UTR-5UTR
ENST00000409735	40871624	40871837	5UTR-5UTR
ENST00000356508	40872679	40872822	Frame-shift
ENST00000409281	40872679	40872822	Frame-shift
ENST00000409419	40872679	40872822	Frame-shift
ENST00000409587	40872679	40872822	Frame-shift
ENST00000409735	40872679	40872822	Frame-shift
ENST00000356508	40873602	40873786	Frame-shift
ENST00000409281	40873602	40873786	Frame-shift
ENST00000409419	40873602	40873786	Frame-shift
ENST00000409587	40873602	40873786	Frame-shift
ENST00000409735	40873602	40873786	Frame-shift
ENST00000356508	40875814	40875935	Frame-shift
ENST00000409281	40875814	40875935	Frame-shift
ENST00000409419	40875814	40875935	Frame-shift
ENST00000409587	40875814	40875935	Frame-shift
ENST00000409735	40875814	40875935	Frame-shift
ENST00000356508	40880387	40880527	Frame-shift
ENST00000409281	40880387	40880527	Frame-shift
ENST00000409419	40880387	40880527	Frame-shift
ENST00000409587	40880387	40880527	Frame-shift
ENST00000409735	40880387	40880527	Frame-shift
ENST00000356508	40883692	40883792	Frame-shift
ENST00000409281	40883692	40883792	Frame-shift
ENST00000409419	40883692	40883792	Frame-shift
ENST00000409587	40883692	40883792	Frame-shift
ENST00000409735	40883692	40883792	Frame-shift
ENST00000356508	40872516	40872591	In-frame
ENST00000409281	40872516	40872591	In-frame
ENST00000409419	40872516	40872591	In-frame
ENST00000409587	40872516	40872591	In-frame
ENST00000409735	40872516	40872591	In-frame
ENST00000356508	40877579	40877780	In-frame
ENST00000409281	40877579	40877780	In-frame
ENST00000409419	40877579	40877780	In-frame
ENST00000409587	40877579	40877780	In-frame
ENST00000409735	40877579	40877780	In-frame

Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000409587	40872290	40872417	5CDS-5UTR
ENST00000409281	40872325	40872417	5CDS-5UTR
ENST00000409735	40872325	40872417	5CDS-5UTR
ENST00000356508	40871459	40871492	5UTR-5UTR
ENST00000409587	40871624	40871837	5UTR-5UTR
ENST00000409735	40871624	40871837	5UTR-5UTR
ENST00000356508	40872679	40872822	Frame-shift
ENST00000409281	40872679	40872822	Frame-shift
ENST00000409419	40872679	40872822	Frame-shift
ENST00000409587	40872679	40872822	Frame-shift
ENST00000409735	40872679	40872822	Frame-shift
ENST00000356508	40873602	40873786	Frame-shift
ENST00000409281	40873602	40873786	Frame-shift
ENST00000409419	40873602	40873786	Frame-shift
ENST00000409587	40873602	40873786	Frame-shift
ENST00000409735	40873602	40873786	Frame-shift
ENST00000356508	40875814	40875935	Frame-shift
ENST00000409281	40875814	40875935	Frame-shift
ENST00000409419	40875814	40875935	Frame-shift
ENST00000409587	40875814	40875935	Frame-shift
ENST00000409735	40875814	40875935	Frame-shift
ENST00000356508	40880387	40880527	Frame-shift
ENST00000409281	40880387	40880527	Frame-shift
ENST00000409419	40880387	40880527	Frame-shift
ENST00000409587	40880387	40880527	Frame-shift
ENST00000409735	40880387	40880527	Frame-shift
ENST00000356508	40883692	40883792	Frame-shift
ENST00000409281	40883692	40883792	Frame-shift
ENST00000409419	40883692	40883792	Frame-shift
ENST00000409587	40883692	40883792	Frame-shift
ENST00000409735	40883692	40883792	Frame-shift
ENST00000356508	40872516	40872591	In-frame
ENST00000409281	40872516	40872591	In-frame
ENST00000409419	40872516	40872591	In-frame
ENST00000409587	40872516	40872591	In-frame
ENST00000409735	40872516	40872591	In-frame
ENST00000356508	40877579	40877780	In-frame
ENST00000409281	40877579	40877780	In-frame
ENST00000409419	40877579	40877780	In-frame
ENST00000409587	40877579	40877780	In-frame
ENST00000409735	40877579	40877780	In-frame

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Infer the effects of exon skipping event on protein functional features for PLD3

Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.

Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000356508	1923	490	40872516	40872591	151	225	9	34
ENST00000409281	2132	490	40872516	40872591	360	434	9	34
ENST00000409419	1983	490	40872516	40872591	219	293	9	34
ENST00000409587	2197	490	40872516	40872591	425	499	9	34
ENST00000409735	2157	490	40872516	40872591	385	459	9	34
ENST00000356508	1923	490	40877579	40877780	802	1002	226	293
ENST00000409281	2132	490	40877579	40877780	1011	1211	226	293
ENST00000409419	1983	490	40877579	40877780	870	1070	226	293
ENST00000409587	2197	490	40877579	40877780	1076	1276	226	293
ENST00000409735	2157	490	40877579	40877780	1036	1236	226	293

Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000356508	1923	490	40872516	40872591	151	225	9	34
ENST00000409281	2132	490	40872516	40872591	360	434	9	34
ENST00000409419	1983	490	40872516	40872591	219	293	9	34
ENST00000409587	2197	490	40872516	40872591	425	499	9	34
ENST00000409735	2157	490	40872516	40872591	385	459	9	34
ENST00000356508	1923	490	40877579	40877780	802	1002	226	293
ENST00000409281	2132	490	40877579	40877780	1011	1211	226	293
ENST00000409419	1983	490	40877579	40877780	870	1070	226	293
ENST00000409587	2197	490	40877579	40877780	1076	1276	226	293
ENST00000409735	2157	490	40877579	40877780	1036	1236	226	293

Lost protein functional features of individual exon skipping events in TCGA.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
Q8IV08	9	34	1	490	Chain	ID=PRO_0000280326;Note=Phospholipase D3
Q8IV08	9	34	1	490	Chain	ID=PRO_0000280326;Note=Phospholipase D3
Q8IV08	9	34	1	490	Chain	ID=PRO_0000280326;Note=Phospholipase D3
Q8IV08	9	34	1	490	Chain	ID=PRO_0000280326;Note=Phospholipase D3
Q8IV08	9	34	1	490	Chain	ID=PRO_0000280326;Note=Phospholipase D3
Q8IV08	9	34	1	38	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IV08	9	34	1	38	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IV08	9	34	1	38	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IV08	9	34	1	38	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IV08	9	34	1	38	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IV08	226	293	1	490	Chain	ID=PRO_0000280326;Note=Phospholipase D3
Q8IV08	226	293	1	490	Chain	ID=PRO_0000280326;Note=Phospholipase D3
Q8IV08	226	293	1	490	Chain	ID=PRO_0000280326;Note=Phospholipase D3
Q8IV08	226	293	1	490	Chain	ID=PRO_0000280326;Note=Phospholipase D3
Q8IV08	226	293	1	490	Chain	ID=PRO_0000280326;Note=Phospholipase D3
Q8IV08	226	293	232	232	Natural variant	ID=VAR_071186;Note=Found in Alzheimer disease patients at higher frequency compared to controls%3B unknown pathological significance. V->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:24336208,ECO:0000269\|PubMe
Q8IV08	226	293	232	232	Natural variant	ID=VAR_071186;Note=Found in Alzheimer disease patients at higher frequency compared to controls%3B unknown pathological significance. V->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:24336208,ECO:0000269\|PubMe
Q8IV08	226	293	232	232	Natural variant	ID=VAR_071186;Note=Found in Alzheimer disease patients at higher frequency compared to controls%3B unknown pathological significance. V->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:24336208,ECO:0000269\|PubMe
Q8IV08	226	293	232	232	Natural variant	ID=VAR_071186;Note=Found in Alzheimer disease patients at higher frequency compared to controls%3B unknown pathological significance. V->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:24336208,ECO:0000269\|PubMe
Q8IV08	226	293	232	232	Natural variant	ID=VAR_071186;Note=Found in Alzheimer disease patients at higher frequency compared to controls%3B unknown pathological significance. V->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:24336208,ECO:0000269\|PubMe
Q8IV08	226	293	242	242	Natural variant	ID=VAR_075913;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs757965784,PMID:26411346
Q8IV08	226	293	242	242	Natural variant	ID=VAR_075913;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs757965784,PMID:26411346
Q8IV08	226	293	242	242	Natural variant	ID=VAR_075913;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs757965784,PMID:26411346
Q8IV08	226	293	242	242	Natural variant	ID=VAR_075913;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs757965784,PMID:26411346
Q8IV08	226	293	242	242	Natural variant	ID=VAR_075913;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs757965784,PMID:26411346
Q8IV08	226	293	249	249	Natural variant	ID=VAR_075914;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs746715924,PMID:26411346
Q8IV08	226	293	249	249	Natural variant	ID=VAR_075914;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs746715924,PMID:26411346
Q8IV08	226	293	249	249	Natural variant	ID=VAR_075914;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs746715924,PMID:26411346
Q8IV08	226	293	249	249	Natural variant	ID=VAR_075914;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs746715924,PMID:26411346
Q8IV08	226	293	249	249	Natural variant	ID=VAR_075914;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs746715924,PMID:26411346
Q8IV08	226	293	272	272	Natural variant	ID=VAR_075915;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs144312764,PMID:26411346
Q8IV08	226	293	272	272	Natural variant	ID=VAR_075915;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs144312764,PMID:26411346
Q8IV08	226	293	272	272	Natural variant	ID=VAR_075915;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs144312764,PMID:26411346
Q8IV08	226	293	272	272	Natural variant	ID=VAR_075915;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs144312764,PMID:26411346
Q8IV08	226	293	272	272	Natural variant	ID=VAR_075915;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs144312764,PMID:26411346
Q8IV08	226	293	284	284	Natural variant	ID=VAR_075916;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs200274020,PMID:26411346
Q8IV08	226	293	284	284	Natural variant	ID=VAR_075916;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs200274020,PMID:26411346
Q8IV08	226	293	284	284	Natural variant	ID=VAR_075916;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs200274020,PMID:26411346
Q8IV08	226	293	284	284	Natural variant	ID=VAR_075916;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs200274020,PMID:26411346
Q8IV08	226	293	284	284	Natural variant	ID=VAR_075916;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs200274020,PMID:26411346
Q8IV08	226	293	293	293	Natural variant	ID=VAR_075917;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs368737000,PMID:26411346
Q8IV08	226	293	293	293	Natural variant	ID=VAR_075917;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs368737000,PMID:26411346
Q8IV08	226	293	293	293	Natural variant	ID=VAR_075917;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs368737000,PMID:26411346
Q8IV08	226	293	293	293	Natural variant	ID=VAR_075917;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs368737000,PMID:26411346
Q8IV08	226	293	293	293	Natural variant	ID=VAR_075917;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs368737000,PMID:26411346
Q8IV08	226	293	60	490	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IV08	226	293	60	490	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IV08	226	293	60	490	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IV08	226	293	60	490	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IV08	226	293	60	490	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255

Lost protein functional features of individual exon skipping events in GTEx.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
Q8IV08	9	34	1	490	Chain	ID=PRO_0000280326;Note=Phospholipase D3
Q8IV08	9	34	1	490	Chain	ID=PRO_0000280326;Note=Phospholipase D3
Q8IV08	9	34	1	490	Chain	ID=PRO_0000280326;Note=Phospholipase D3
Q8IV08	9	34	1	490	Chain	ID=PRO_0000280326;Note=Phospholipase D3
Q8IV08	9	34	1	490	Chain	ID=PRO_0000280326;Note=Phospholipase D3
Q8IV08	9	34	1	38	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IV08	9	34	1	38	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IV08	9	34	1	38	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IV08	9	34	1	38	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IV08	9	34	1	38	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IV08	226	293	1	490	Chain	ID=PRO_0000280326;Note=Phospholipase D3
Q8IV08	226	293	1	490	Chain	ID=PRO_0000280326;Note=Phospholipase D3
Q8IV08	226	293	1	490	Chain	ID=PRO_0000280326;Note=Phospholipase D3
Q8IV08	226	293	1	490	Chain	ID=PRO_0000280326;Note=Phospholipase D3
Q8IV08	226	293	1	490	Chain	ID=PRO_0000280326;Note=Phospholipase D3
Q8IV08	226	293	232	232	Natural variant	ID=VAR_071186;Note=Found in Alzheimer disease patients at higher frequency compared to controls%3B unknown pathological significance. V->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:24336208,ECO:0000269\|PubMe
Q8IV08	226	293	232	232	Natural variant	ID=VAR_071186;Note=Found in Alzheimer disease patients at higher frequency compared to controls%3B unknown pathological significance. V->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:24336208,ECO:0000269\|PubMe
Q8IV08	226	293	232	232	Natural variant	ID=VAR_071186;Note=Found in Alzheimer disease patients at higher frequency compared to controls%3B unknown pathological significance. V->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:24336208,ECO:0000269\|PubMe
Q8IV08	226	293	232	232	Natural variant	ID=VAR_071186;Note=Found in Alzheimer disease patients at higher frequency compared to controls%3B unknown pathological significance. V->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:24336208,ECO:0000269\|PubMe
Q8IV08	226	293	232	232	Natural variant	ID=VAR_071186;Note=Found in Alzheimer disease patients at higher frequency compared to controls%3B unknown pathological significance. V->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:24336208,ECO:0000269\|PubMe
Q8IV08	226	293	242	242	Natural variant	ID=VAR_075913;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs757965784,PMID:26411346
Q8IV08	226	293	242	242	Natural variant	ID=VAR_075913;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs757965784,PMID:26411346
Q8IV08	226	293	242	242	Natural variant	ID=VAR_075913;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs757965784,PMID:26411346
Q8IV08	226	293	242	242	Natural variant	ID=VAR_075913;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs757965784,PMID:26411346
Q8IV08	226	293	242	242	Natural variant	ID=VAR_075913;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs757965784,PMID:26411346
Q8IV08	226	293	249	249	Natural variant	ID=VAR_075914;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs746715924,PMID:26411346
Q8IV08	226	293	249	249	Natural variant	ID=VAR_075914;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs746715924,PMID:26411346
Q8IV08	226	293	249	249	Natural variant	ID=VAR_075914;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs746715924,PMID:26411346
Q8IV08	226	293	249	249	Natural variant	ID=VAR_075914;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs746715924,PMID:26411346
Q8IV08	226	293	249	249	Natural variant	ID=VAR_075914;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs746715924,PMID:26411346
Q8IV08	226	293	272	272	Natural variant	ID=VAR_075915;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs144312764,PMID:26411346
Q8IV08	226	293	272	272	Natural variant	ID=VAR_075915;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs144312764,PMID:26411346
Q8IV08	226	293	272	272	Natural variant	ID=VAR_075915;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs144312764,PMID:26411346
Q8IV08	226	293	272	272	Natural variant	ID=VAR_075915;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs144312764,PMID:26411346
Q8IV08	226	293	272	272	Natural variant	ID=VAR_075915;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs144312764,PMID:26411346
Q8IV08	226	293	284	284	Natural variant	ID=VAR_075916;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs200274020,PMID:26411346
Q8IV08	226	293	284	284	Natural variant	ID=VAR_075916;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs200274020,PMID:26411346
Q8IV08	226	293	284	284	Natural variant	ID=VAR_075916;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs200274020,PMID:26411346
Q8IV08	226	293	284	284	Natural variant	ID=VAR_075916;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs200274020,PMID:26411346
Q8IV08	226	293	284	284	Natural variant	ID=VAR_075916;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs200274020,PMID:26411346
Q8IV08	226	293	293	293	Natural variant	ID=VAR_075917;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs368737000,PMID:26411346
Q8IV08	226	293	293	293	Natural variant	ID=VAR_075917;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs368737000,PMID:26411346
Q8IV08	226	293	293	293	Natural variant	ID=VAR_075917;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs368737000,PMID:26411346
Q8IV08	226	293	293	293	Natural variant	ID=VAR_075917;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs368737000,PMID:26411346
Q8IV08	226	293	293	293	Natural variant	ID=VAR_075917;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26411346;Dbxref=dbSNP:rs368737000,PMID:26411346
Q8IV08	226	293	60	490	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IV08	226	293	60	490	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IV08	226	293	60	490	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IV08	226	293	60	490	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q8IV08	226	293	60	490	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255

Top

SNVs in the skipped exons for PLD3

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

PLD3_KIRC_exon_skip_307172_psi_boxplot.png
boxplot

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
BLCA	TCGA-DK-A3X1-01	exon_skip_307158	40872291	40872417	40872415	40872415	Nonsense_Mutation	G	T	p.E9*
BLCA	TCGA-DK-A3X1-01	exon_skip_307160	40872326	40872417	40872415	40872415	Nonsense_Mutation	G	T	p.E9*
HNSC	TCGA-CQ-5325-01	exon_skip_307163	40872517	40872591	40872532	40872532	Nonsense_Mutation	G	T	p.E15*
UCEC	TCGA-D1-A1NU-01	exon_skip_307171	40873508	40873786	40873684	40873684	Nonsense_Mutation	G	A	p.W109*
UCEC	TCGA-D1-A1NU-01	exon_skip_307172	40873603	40873786	40873684	40873684	Nonsense_Mutation	G	A	p.W109*
KIRC	TCGA-B8-5164-01	exon_skip_307171	40873508	40873786	40873738	40873738	Nonsense_Mutation	G	A	p.W127*
KIRC	TCGA-B8-5164-01	exon_skip_307171	40873508	40873786	40873738	40873738	Nonsense_Mutation	G	A	p.W127X
KIRC	TCGA-B8-5164-01	exon_skip_307172	40873603	40873786	40873738	40873738	Nonsense_Mutation	G	A	p.W127*
KIRC	TCGA-B8-5164-01	exon_skip_307172	40873603	40873786	40873738	40873738	Nonsense_Mutation	G	A	p.W127X
STAD	TCGA-BR-8081-01	exon_skip_307179	40877580	40877780	40877625	40877625	Nonsense_Mutation	C	T	p.R242*
STAD	TCGA-BR-8081-01	exon_skip_307179	40877580	40877780	40877625	40877625	Nonsense_Mutation	C	T	p.R242X
SKCM	TCGA-EE-A29D-06	exon_skip_307179	40877580	40877780	40877667	40877667	Nonsense_Mutation	C	T	p.Q256*
SKCM	TCGA-EE-A29D-06	exon_skip_307179	40877580	40877780	40877667	40877667	Nonsense_Mutation	C	T	p.Q256X

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons	Mutation description
	Sample: TCGA-B8-5164-01
	Cancer type: KIRC
	ESID: exon_skip_307171
	Skipped exon start: 40873508
	Skipped exon end: 40873786
	Mutation start: 40873738
	Mutation end: 40873738
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.W127X
	Sample: TCGA-B8-5164-01
	Cancer type: KIRC
	ESID: exon_skip_307172
	Skipped exon start: 40873603
	Skipped exon end: 40873786
	Mutation start: 40873738
	Mutation end: 40873738
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.W127X
	Sample: TCGA-B8-5164-01
	Cancer type: KIRC
	ESID: exon_skip_307171
	Skipped exon start: 40873508
	Skipped exon end: 40873786
	Mutation start: 40873738
	Mutation end: 40873738
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.W127*
	Sample: TCGA-B8-5164-01
	Cancer type: KIRC
	ESID: exon_skip_307172
	Skipped exon start: 40873603
	Skipped exon end: 40873786
	Mutation start: 40873738
	Mutation end: 40873738
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.W127*
exon_skip_307171_KIRC_TCGA-B8-5164-01.png
exon_skip_307172_KIRC_TCGA-B8-5164-01.png
	Sample: TCGA-D1-A1NU-01
	Cancer type: UCEC
	ESID: exon_skip_307171
	Skipped exon start: 40873508
	Skipped exon end: 40873786
	Mutation start: 40873684
	Mutation end: 40873684
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.W109*
	Sample: TCGA-D1-A1NU-01
	Cancer type: UCEC
	ESID: exon_skip_307172
	Skipped exon start: 40873603
	Skipped exon end: 40873786
	Mutation start: 40873684
	Mutation end: 40873684
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.W109*
exon_skip_307171_UCEC_TCGA-D1-A1NU-01.png
exon_skip_307172_UCEC_TCGA-D1-A1NU-01.png
	Sample: TCGA-B8-5164-01
	Cancer type: KIRC
	ESID: exon_skip_307171
	Skipped exon start: 40873508
	Skipped exon end: 40873786
	Mutation start: 40873738
	Mutation end: 40873738
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.W127X
	Sample: TCGA-B8-5164-01
	Cancer type: KIRC
	ESID: exon_skip_307172
	Skipped exon start: 40873603
	Skipped exon end: 40873786
	Mutation start: 40873738
	Mutation end: 40873738
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.W127X
	Sample: TCGA-B8-5164-01
	Cancer type: KIRC
	ESID: exon_skip_307171
	Skipped exon start: 40873508
	Skipped exon end: 40873786
	Mutation start: 40873738
	Mutation end: 40873738
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.W127*
	Sample: TCGA-B8-5164-01
	Cancer type: KIRC
	ESID: exon_skip_307172
	Skipped exon start: 40873603
	Skipped exon end: 40873786
	Mutation start: 40873738
	Mutation end: 40873738
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.W127*
exon_skip_307171_KIRC_TCGA-B8-5164-01.png
exon_skip_307172_KIRC_TCGA-B8-5164-01.png
	Sample: TCGA-D1-A1NU-01
	Cancer type: UCEC
	ESID: exon_skip_307171
	Skipped exon start: 40873508
	Skipped exon end: 40873786
	Mutation start: 40873684
	Mutation end: 40873684
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.W109*
	Sample: TCGA-D1-A1NU-01
	Cancer type: UCEC
	ESID: exon_skip_307172
	Skipped exon start: 40873603
	Skipped exon end: 40873786
	Mutation start: 40873684
	Mutation end: 40873684
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.W109*
exon_skip_307171_UCEC_TCGA-D1-A1NU-01.png
exon_skip_307172_UCEC_TCGA-D1-A1NU-01.png

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
AN3CA_ENDOMETRIUM	40883693	40883792	40883707	40883707	Frame_Shift_Del	C	-	p.V400fs
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40872517	40872591	40872542	40872542	Missense_Mutation	C	T	p.A18V
SNU175_LARGE_INTESTINE	40872517	40872591	40872571	40872571	Missense_Mutation	G	A	p.A28T
SKUT1_SOFT_TISSUE	40872680	40872822	40872699	40872699	Missense_Mutation	T	C	p.L41P
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40872680	40872822	40872716	40872716	Missense_Mutation	G	A	p.V47I
NB1_AUTONOMIC_GANGLIA	40873508	40873786	40873644	40873644	Missense_Mutation	C	T	p.P96L
NB1_AUTONOMIC_GANGLIA	40873603	40873786	40873644	40873644	Missense_Mutation	C	T	p.P96L
JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40873508	40873786	40873715	40873715	Missense_Mutation	C	G	p.L120V
JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40873603	40873786	40873715	40873715	Missense_Mutation	C	G	p.L120V
HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40873508	40873786	40873724	40873724	Missense_Mutation	G	A	p.A123T
HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40873603	40873786	40873724	40873724	Missense_Mutation	G	A	p.A123T
HEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40873508	40873786	40873724	40873724	Missense_Mutation	G	A	p.A123T
HEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40873603	40873786	40873724	40873724	Missense_Mutation	G	A	p.A123T
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40877580	40877780	40877700	40877700	Missense_Mutation	C	T	p.R267W
GOTO_AUTONOMIC_GANGLIA	40877580	40877780	40877703	40877703	Missense_Mutation	T	C	p.F268L
NCIH661_LUNG	40880388	40880527	40880454	40880454	Missense_Mutation	G	C	p.D316H
HS600T_FIBROBLAST	40880388	40880527	40880481	40880481	Missense_Mutation	G	A	p.A325T
VMRCRCW_KIDNEY	40880388	40880527	40880506	40880506	Missense_Mutation	T	C	p.L333P
BCPAP_THYROID	40883693	40883792	40883744	40883744	Missense_Mutation	C	T	p.R413C
FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40883693	40883792	40883771	40883771	Missense_Mutation	A	G	p.T422A
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40883693	40883792	40883777	40883777	Missense_Mutation	C	T	p.R424C
HEC59_ENDOMETRIUM	40883693	40883792	40883729	40883729	Nonsense_Mutation	C	T	p.R408*
MEWO_SKIN	40875815	40875935	40875816	40875816	Splice_Site	G	C	p.G144A
HS578T_BREAST	40875815	40875935	40875935	40876015	Splice_Site	GGTGAGCTGGGGCCCAACTGGGGCTGGTCTGGGCCTGGGGGTACCCAGCCTGGCCCCTGATCTCTGCCCCTGCTGGTCACA	-	p.G184del
KELLY_AUTONOMIC_GANGLIA	40875815	40875935	40875935	40876015	Splice_Site	GGTGAGCTGGGGCCCAACTGGGGCTGGTCTGGGCCTGGGGGTACCCAGCCTGGCCCCTGATCTCTGCCCCTGCTGGTCACA	-	p.G184del
DJM1_SKIN	40877580	40877780	40877780	40877780	Splice_Site	G	A	p.A293A
NCIH1944_LUNG	40883693	40883792	40883792	40883792	Splice_Site	G	T	p.G429*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLD3

sQTL information located at the skipped exons.

Exon skip ID

Chromosome

Three exons

Skippped exon

ENST

Cancer type

SNP id

Location

DNA change (ref/var)

P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLD3

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLD3

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RelatedDrugs for PLD3

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for PLD3

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for PLD3

Exon skipping events across known transcript of Ensembl for PLD3 from UCSC genome browser

Gene isoform structures and expression levels for PLD3

Exon skipping events with PSIs in TCGA for PLD3

Exon skipping events with PSIs in GTEx for PLD3

Open reading frame (ORF) annotation in the exon skipping event for PLD3

Infer the effects of exon skipping event on protein functional features for PLD3

SNVs in the skipped exons for PLD3

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLD3

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLD3

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLD3

RelatedDrugs for PLD3

RelatedDiseases for PLD3