ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for PHLDB2

Gene summary

Gene information	Gene symbol	PHLDB2
	Gene ID	90102
	Gene name	pleckstrin homology like domain family B member 2
	Synonyms	LL5b\|LL5beta
	Cytomap	3q13.2
	Type of gene	protein-coding
	Description	pleckstrin homology-like domain family B member 2LL5 betaprotein LL5-beta
	Modification date	20180522
	UniProtAcc	Q86SQ0
	Context	PubMed: PHLDB2 [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 PHLDB2 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 PHLDB2

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 PHLDB2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_376538	3	111578137:111578423:111602910:111604259:111632165:111632549	111602910:111604259	ENSG00000144824.15	ENST00000498699.1,ENST00000431670.2,ENST00000412622.1
exon_skip_376540	3	111578642:111578725:111602910:111604259:111632165:111632549	111602910:111604259	ENSG00000144824.15	ENST00000393925.3,ENST00000477695.1
exon_skip_376543	3	111639128:111639266:111651115:111651244:111658321:111658477	111651115:111651244	ENSG00000144824.15	ENST00000393925.3,ENST00000431670.2,ENST00000495180.1
exon_skip_376548	3	111659381:111659492:111664114:111664204:111667778:111667922	111664114:111664204	ENSG00000144824.15	ENST00000481953.1,ENST00000498699.1,ENST00000393923.3,ENST00000393925.3,ENST00000478733.1,ENST00000431670.2,ENST00000412622.1
exon_skip_376551	3	111659381:111659492:111664114:111664204:111672776:111672876	111664114:111664204	ENSG00000144824.15	ENST00000495180.1
exon_skip_376556	3	111664114:111664204:111667778:111667922:111671418:111671559	111667778:111667922	ENSG00000144824.15	ENST00000481953.1,ENST00000498699.1,ENST00000393923.3,ENST00000393925.3,ENST00000431670.2,ENST00000412622.1
exon_skip_376563	3	111667778:111667922:111671418:111671559:111672776:111672876	111671418:111671559	ENSG00000144824.15	ENST00000481953.1,ENST00000498699.1,ENST00000393923.3,ENST00000393925.3,ENST00000431670.2,ENST00000412622.1
exon_skip_376567	3	111672776:111672876:111680954:111681159:111685459:111685550	111680954:111681159	ENSG00000144824.15	ENST00000481953.1,ENST00000498699.1,ENST00000393923.3,ENST00000393925.3,ENST00000478584.1,ENST00000431670.2,ENST00000412622.1,ENST00000495180.1
exon_skip_376568	3	111677121:111677142:111678991:111679027:111680954:111681159	111678991:111679027	ENSG00000144824.15	ENST00000470699.2
exon_skip_376569	3	111685459:111685550:111686524:111686671:111688536:111688696	111686524:111686671	ENSG00000144824.15	ENST00000481953.1,ENST00000498699.1,ENST00000393923.3,ENST00000393925.3,ENST00000431670.2,ENST00000412622.1,ENST00000495180.1,ENST00000486886.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for PHLDB2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_376538	3	111578137:111578423:111602910:111604259:111632165:111632549	111602910:111604259	ENSG00000144824.15	ENST00000431670.2,ENST00000412622.1,ENST00000498699.1
exon_skip_376540	3	111578642:111578725:111602910:111604259:111632165:111632549	111602910:111604259	ENSG00000144824.15	ENST00000477695.1,ENST00000393925.3
exon_skip_376543	3	111639128:111639266:111651115:111651244:111658321:111658477	111651115:111651244	ENSG00000144824.15	ENST00000431670.2,ENST00000393925.3,ENST00000495180.1
exon_skip_376548	3	111659381:111659492:111664114:111664204:111667778:111667922	111664114:111664204	ENSG00000144824.15	ENST00000393923.3,ENST00000431670.2,ENST00000412622.1,ENST00000498699.1,ENST00000393925.3,ENST00000481953.1,ENST00000478733.1
exon_skip_376551	3	111659381:111659492:111664114:111664204:111672776:111672876	111664114:111664204	ENSG00000144824.15	ENST00000495180.1
exon_skip_376556	3	111664114:111664204:111667778:111667922:111671418:111671559	111667778:111667922	ENSG00000144824.15	ENST00000393923.3,ENST00000431670.2,ENST00000412622.1,ENST00000498699.1,ENST00000393925.3,ENST00000481953.1
exon_skip_376563	3	111667778:111667922:111671418:111671559:111672776:111672876	111671418:111671559	ENSG00000144824.15	ENST00000393923.3,ENST00000431670.2,ENST00000412622.1,ENST00000498699.1,ENST00000393925.3,ENST00000481953.1
exon_skip_376567	3	111672776:111672876:111680954:111681159:111685459:111685550	111680954:111681159	ENSG00000144824.15	ENST00000393923.3,ENST00000431670.2,ENST00000412622.1,ENST00000498699.1,ENST00000393925.3,ENST00000481953.1,ENST00000495180.1,ENST00000478584.1
exon_skip_376568	3	111677121:111677142:111678991:111679027:111680954:111681159	111678991:111679027	ENSG00000144824.15	ENST00000470699.2
exon_skip_376569	3	111685459:111685550:111686524:111686671:111688536:111688696	111686524:111686671	ENSG00000144824.15	ENST00000393923.3,ENST00000431670.2,ENST00000412622.1,ENST00000498699.1,ENST00000393925.3,ENST00000481953.1,ENST00000495180.1,ENST00000486886.1

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 PHLDB2

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
ENST00000393925	111602910	111604259	5CDS-5UTR
ENST00000431670	111602910	111604259	5CDS-5UTR
ENST00000393925	111680954	111681159	Frame-shift
ENST00000431670	111680954	111681159	Frame-shift
ENST00000393925	111651115	111651244	In-frame
ENST00000431670	111651115	111651244	In-frame
ENST00000393925	111664114	111664204	In-frame
ENST00000431670	111664114	111664204	In-frame
ENST00000393925	111667778	111667922	In-frame
ENST00000431670	111667778	111667922	In-frame
ENST00000393925	111671418	111671559	In-frame
ENST00000431670	111671418	111671559	In-frame
ENST00000393925	111686524	111686671	In-frame
ENST00000431670	111686524	111686671	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
ENST00000393925	111602910	111604259	5CDS-5UTR
ENST00000431670	111602910	111604259	5CDS-5UTR
ENST00000393925	111680954	111681159	Frame-shift
ENST00000431670	111680954	111681159	Frame-shift
ENST00000393925	111651115	111651244	In-frame
ENST00000431670	111651115	111651244	In-frame
ENST00000393925	111664114	111664204	In-frame
ENST00000431670	111664114	111664204	In-frame
ENST00000393925	111667778	111667922	In-frame
ENST00000431670	111667778	111667922	In-frame
ENST00000393925	111671418	111671559	In-frame
ENST00000431670	111671418	111671559	In-frame
ENST00000393925	111686524	111686671	In-frame
ENST00000431670	111686524	111686671	In-frame

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Infer the effects of exon skipping event on protein functional features for PHLDB2

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
ENST00000393925	5560	1253	111651115	111651244	2099	2227	667	710
ENST00000431670	6144	1253	111651115	111651244	2413	2541	667	710
ENST00000393925	5560	1253	111664114	111664204	2495	2584	799	829
ENST00000431670	6144	1253	111664114	111664204	2809	2898	799	829
ENST00000393925	5560	1253	111667778	111667922	2585	2728	829	877
ENST00000431670	6144	1253	111667778	111667922	2899	3042	829	877
ENST00000393925	5560	1253	111671418	111671559	2729	2869	877	924
ENST00000431670	6144	1253	111671418	111671559	3043	3183	877	924
ENST00000393925	5560	1253	111686524	111686671	3266	3412	1056	1105
ENST00000431670	6144	1253	111686524	111686671	3580	3726	1056	1105

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
ENST00000393925	5560	1253	111651115	111651244	2099	2227	667	710
ENST00000431670	6144	1253	111651115	111651244	2413	2541	667	710
ENST00000393925	5560	1253	111664114	111664204	2495	2584	799	829
ENST00000431670	6144	1253	111664114	111664204	2809	2898	799	829
ENST00000393925	5560	1253	111667778	111667922	2585	2728	829	877
ENST00000431670	6144	1253	111667778	111667922	2899	3042	829	877
ENST00000393925	5560	1253	111671418	111671559	2729	2869	877	924
ENST00000431670	6144	1253	111671418	111671559	3043	3183	877	924
ENST00000393925	5560	1253	111686524	111686671	3266	3412	1056	1105
ENST00000431670	6144	1253	111686524	111686671	3580	3726	1056	1105

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
Q86SQ0	667	710	668	710	Alternative sequence	ID=VSP_016745;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:17974005,ECO:0000303\|Ref.2;Dbxref=PMID:14702039,PMID:1
Q86SQ0	667	710	668	710	Alternative sequence	ID=VSP_016745;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:17974005,ECO:0000303\|Ref.2;Dbxref=PMID:14702039,PMID:1
Q86SQ0	667	710	1	1253	Chain	ID=PRO_0000053894;Note=Pleckstrin homology-like domain family B member 2
Q86SQ0	667	710	1	1253	Chain	ID=PRO_0000053894;Note=Pleckstrin homology-like domain family B member 2
Q86SQ0	667	710	584	696	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86SQ0	667	710	584	696	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86SQ0	799	829	1	1253	Chain	ID=PRO_0000053894;Note=Pleckstrin homology-like domain family B member 2
Q86SQ0	799	829	1	1253	Chain	ID=PRO_0000053894;Note=Pleckstrin homology-like domain family B member 2
Q86SQ0	799	829	722	807	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86SQ0	799	829	722	807	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86SQ0	829	877	1	1253	Chain	ID=PRO_0000053894;Note=Pleckstrin homology-like domain family B member 2
Q86SQ0	829	877	1	1253	Chain	ID=PRO_0000053894;Note=Pleckstrin homology-like domain family B member 2
Q86SQ0	877	924	1	1253	Chain	ID=PRO_0000053894;Note=Pleckstrin homology-like domain family B member 2
Q86SQ0	877	924	1	1253	Chain	ID=PRO_0000053894;Note=Pleckstrin homology-like domain family B member 2
Q86SQ0	877	924	898	898	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q86SQ0	877	924	898	898	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q86SQ0	1056	1105	1	1253	Chain	ID=PRO_0000053894;Note=Pleckstrin homology-like domain family B member 2
Q86SQ0	1056	1105	1	1253	Chain	ID=PRO_0000053894;Note=Pleckstrin homology-like domain family B member 2
Q86SQ0	1056	1105	1032	1098	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86SQ0	1056	1105	1032	1098	Coiled coil	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
Q86SQ0	667	710	668	710	Alternative sequence	ID=VSP_016745;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:17974005,ECO:0000303\|Ref.2;Dbxref=PMID:14702039,PMID:1
Q86SQ0	667	710	668	710	Alternative sequence	ID=VSP_016745;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:17974005,ECO:0000303\|Ref.2;Dbxref=PMID:14702039,PMID:1
Q86SQ0	667	710	1	1253	Chain	ID=PRO_0000053894;Note=Pleckstrin homology-like domain family B member 2
Q86SQ0	667	710	1	1253	Chain	ID=PRO_0000053894;Note=Pleckstrin homology-like domain family B member 2
Q86SQ0	667	710	584	696	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86SQ0	667	710	584	696	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86SQ0	799	829	1	1253	Chain	ID=PRO_0000053894;Note=Pleckstrin homology-like domain family B member 2
Q86SQ0	799	829	1	1253	Chain	ID=PRO_0000053894;Note=Pleckstrin homology-like domain family B member 2
Q86SQ0	799	829	722	807	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86SQ0	799	829	722	807	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86SQ0	829	877	1	1253	Chain	ID=PRO_0000053894;Note=Pleckstrin homology-like domain family B member 2
Q86SQ0	829	877	1	1253	Chain	ID=PRO_0000053894;Note=Pleckstrin homology-like domain family B member 2
Q86SQ0	877	924	1	1253	Chain	ID=PRO_0000053894;Note=Pleckstrin homology-like domain family B member 2
Q86SQ0	877	924	1	1253	Chain	ID=PRO_0000053894;Note=Pleckstrin homology-like domain family B member 2
Q86SQ0	877	924	898	898	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q86SQ0	877	924	898	898	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q86SQ0	1056	1105	1	1253	Chain	ID=PRO_0000053894;Note=Pleckstrin homology-like domain family B member 2
Q86SQ0	1056	1105	1	1253	Chain	ID=PRO_0000053894;Note=Pleckstrin homology-like domain family B member 2
Q86SQ0	1056	1105	1032	1098	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86SQ0	1056	1105	1032	1098	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for PHLDB2

- 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.

- 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
LIHC	TCGA-CC-5259-01	exon_skip_376540 exon_skip_376538	111602911	111604259	111603106	111603106	Frame_Shift_Del	C	-	p.T61fs
LIHC	TCGA-CC-5259-01	exon_skip_376540 exon_skip_376538	111602911	111604259	111603106	111603106	Frame_Shift_Del	C	-	p.T88fs
LIHC	TCGA-CC-5259-01	exon_skip_376540 exon_skip_376538	111602911	111604259	111603108	111603109	Frame_Shift_Del	CT	-	p.88_89del
LIHC	TCGA-DD-A3A0-01	exon_skip_376540 exon_skip_376538	111602911	111604259	111603888	111603888	Frame_Shift_Del	A	-	p.N322fs
LIHC	TCGA-DD-A39Y-01	exon_skip_376540 exon_skip_376538	111602911	111604259	111603917	111603917	Frame_Shift_Del	C	-	p.V331fs
LIHC	TCGA-DD-A3A0-01	exon_skip_376540 exon_skip_376538	111602911	111604259	111604022	111604022	Frame_Shift_Del	T	-	p.H366fs
LIHC	TCGA-DD-A1EG-01	exon_skip_376540 exon_skip_376538	111602911	111604259	111604051	111604051	Frame_Shift_Del	T	-	p.V376fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_376540 exon_skip_376538	111602911	111604259	111604135	111604135	Frame_Shift_Del	C	-	p.T404fs
LIHC	TCGA-DD-A1EG-01	exon_skip_376543	111651116	111651244	111651219	111651219	Frame_Shift_Del	A	-	p.E702fs
STAD	TCGA-HU-A4H8-01	exon_skip_376551 exon_skip_376548	111664115	111664204	111664163	111664163	Frame_Shift_Del	G	-	p.G816fs
STAD	TCGA-HU-A4H8-01	exon_skip_376551 exon_skip_376548	111664115	111664204	111664163	111664163	Frame_Shift_Del	G	-	p.S815fs
UCEC	TCGA-A5-A0G9-01	exon_skip_376551 exon_skip_376548	111664115	111664204	111664163	111664163	Frame_Shift_Del	G	-	p.G816fs
LIHC	TCGA-DD-A1EG-01	exon_skip_376556	111667779	111667922	111667848	111667848	Frame_Shift_Del	T	-	p.F853fs
COAD	TCGA-A6-5665-01	exon_skip_376569	111686525	111686671	111686543	111686543	Frame_Shift_Del	A	-	p.A1046fs
LGG	TCGA-HT-7854-01	exon_skip_376540 exon_skip_376538	111602911	111604259	111604041	111604042	Frame_Shift_Ins	-	CAGA	p.R373fs
LGG	TCGA-HT-7854-01	exon_skip_376540 exon_skip_376538	111602911	111604259	111604041	111604042	Frame_Shift_Ins	-	CAGA	p.S400fs
UCEC	TCGA-BG-A0M4-01	exon_skip_376551 exon_skip_376548	111664115	111664204	111664162	111664163	Frame_Shift_Ins	-	G	p.S815fs
BLCA	TCGA-FD-A43P-01	exon_skip_376540 exon_skip_376538	111602911	111604259	111602964	111602964	Nonsense_Mutation	C	T	p.Q14*
HNSC	TCGA-CV-7568-01	exon_skip_376540 exon_skip_376538	111602911	111604259	111603463	111603463	Nonsense_Mutation	G	A	p.W180*
SKCM	TCGA-D3-A8GM-06	exon_skip_376540 exon_skip_376538	111602911	111604259	111603464	111603464	Nonsense_Mutation	G	A	p.W180*
ESCA	TCGA-VR-A8ER-01	exon_skip_376540 exon_skip_376538	111602911	111604259	111603468	111603468	Nonsense_Mutation	G	T	p.G182*
ESCA	TCGA-VR-A8ER-01	exon_skip_376540 exon_skip_376538	111602911	111604259	111603468	111603468	Nonsense_Mutation	G	T	p.G209X
LUSC	TCGA-66-2778-01	exon_skip_376540 exon_skip_376538	111602911	111604259	111603564	111603564	Nonsense_Mutation	C	T	p.Q214*
COAD	TCGA-G4-6304-01	exon_skip_376540 exon_skip_376538	111602911	111604259	111603771	111603771	Nonsense_Mutation	C	T	p.R283X
LUAD	TCGA-50-8457-01	exon_skip_376540 exon_skip_376538	111602911	111604259	111603771	111603771	Nonsense_Mutation	C	T	p.R283*
UCEC	TCGA-AX-A0J0-01	exon_skip_376540 exon_skip_376538	111602911	111604259	111603771	111603771	Nonsense_Mutation	C	T	p.R283*
BLCA	TCGA-XF-AAN2-01	exon_skip_376540 exon_skip_376538	111602911	111604259	111604251	111604251	Nonsense_Mutation	G	T	p.E443*
UCEC	TCGA-AP-A051-01	exon_skip_376540 exon_skip_376538	111602911	111604259	111604254	111604254	Nonsense_Mutation	C	T	p.R444*
UCEC	TCGA-AP-A056-01	exon_skip_376540 exon_skip_376538	111602911	111604259	111604254	111604254	Nonsense_Mutation	C	T	p.R444*
UCEC	TCGA-D1-A174-01	exon_skip_376540 exon_skip_376538	111602911	111604259	111604254	111604254	Nonsense_Mutation	C	T	p.R444*
SKCM	TCGA-FW-A3R5-06	exon_skip_376563	111671419	111671559	111671488	111671488	Nonsense_Mutation	C	T	p.R901*
SKCM	TCGA-FW-A3R5-06	exon_skip_376563	111671419	111671559	111671488	111671488	Nonsense_Mutation	C	T	p.R901X
UCEC	TCGA-B5-A11O-01	exon_skip_376563	111671419	111671559	111671417	111671417	Splice_Site	A	G	p.H878_splice
LUAD	TCGA-05-4424-01	exon_skip_376569	111686525	111686671	111686524	111686524	Splice_Site	G	T	p.E1057_splice

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

Depth of coverage in three exons

Mutation description

- 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
MALME3M_SKIN	111602911	111604259	111603468	111603472	Frame_Shift_Del	GGAAG	-	p.GS182fs
LNCAPCLONEFGC_PROSTATE	111602911	111604259	111604135	111604135	Frame_Shift_Del	C	-	p.T404fs
SNU520_STOMACH	111664115	111664204	111664163	111664163	Frame_Shift_Del	G	-	p.G817fs
HEC151_ENDOMETRIUM	111602911	111604259	111603305	111603306	Frame_Shift_Ins	-	T	p.F128fs
TE10_OESOPHAGUS	111686525	111686671	111686542	111686543	Frame_Shift_Ins	-	A	p.K1063fs
HUCCT1_BILIARY_TRACT	111686525	111686671	111686603	111686605	In_Frame_Del	GAA	-	p.E1084del
SAS_UPPER_AERODIGESTIVE_TRACT	111602911	111604259	111603052	111603052	Missense_Mutation	A	T	p.Y43F
HCC1806_BREAST	111602911	111604259	111603079	111603079	Missense_Mutation	A	T	p.N52I
MRKNU1_BREAST	111602911	111604259	111603100	111603100	Missense_Mutation	A	G	p.Y59C
MCC13_SKIN	111602911	111604259	111603145	111603145	Missense_Mutation	C	T	p.P74L
KM12_LARGE_INTESTINE	111602911	111604259	111603279	111603279	Missense_Mutation	A	G	p.S119G
MM386_SKIN	111602911	111604259	111603312	111603312	Missense_Mutation	C	T	p.H130Y
HEC251_ENDOMETRIUM	111602911	111604259	111603356	111603356	Missense_Mutation	G	T	p.E144D
MM426_SKIN	111602911	111604259	111603369	111603369	Missense_Mutation	T	A	p.S149T
HCT15_LARGE_INTESTINE	111602911	111604259	111603417	111603417	Missense_Mutation	G	A	p.G165R
OVMANA_OVARY	111602911	111604259	111603441	111603441	Missense_Mutation	T	C	p.S173P
M14_SKIN	111602911	111604259	111603448	111603448	Missense_Mutation	C	T	p.S175L
MDAMB435S_SKIN	111602911	111604259	111603448	111603448	Missense_Mutation	C	T	p.S175L
KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111602911	111604259	111603501	111603501	Missense_Mutation	A	G	p.I193V
NCIH1666_LUNG	111602911	111604259	111603510	111603510	Missense_Mutation	T	C	p.S196P
SW684_SOFT_TISSUE	111602911	111604259	111603586	111603586	Missense_Mutation	C	T	p.P221L
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111602911	111604259	111603589	111603589	Missense_Mutation	A	T	p.K222M
MFE319_ENDOMETRIUM	111602911	111604259	111603616	111603616	Missense_Mutation	C	T	p.S231F
EN_ENDOMETRIUM	111602911	111604259	111603669	111603669	Missense_Mutation	A	G	p.M249V
NB12_AUTONOMIC_GANGLIA	111602911	111604259	111603676	111603676	Missense_Mutation	C	G	p.A251G
HEC59_ENDOMETRIUM	111602911	111604259	111603685	111603685	Missense_Mutation	G	T	p.R254L
BT474_BREAST	111602911	111604259	111603801	111603801	Missense_Mutation	C	T	p.H293Y
PEDS015T_SOFT_TISSUE	111602911	111604259	111603945	111603945	Missense_Mutation	A	G	p.M341V
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111602911	111604259	111604008	111604008	Missense_Mutation	A	G	p.T362A
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111602911	111604259	111604050	111604050	Missense_Mutation	G	A	p.V376I
RKO_LARGE_INTESTINE	111602911	111604259	111604062	111604062	Missense_Mutation	A	T	p.R380W
HEC151_ENDOMETRIUM	111602911	111604259	111604116	111604116	Missense_Mutation	C	A	p.L398I
SNU1040_LARGE_INTESTINE	111602911	111604259	111604189	111604189	Missense_Mutation	G	A	p.R422H
KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111602911	111604259	111604213	111604213	Missense_Mutation	G	A	p.R430Q
MZ2MEL_SKIN	111602911	111604259	111604251	111604251	Missense_Mutation	G	A	p.E443K
HT115_LARGE_INTESTINE	111651116	111651244	111651128	111651128	Missense_Mutation	C	T	p.L672F
HEC251_ENDOMETRIUM	111664115	111664204	111664127	111664127	Missense_Mutation	C	A	p.L804I
SW684_SOFT_TISSUE	111664115	111664204	111664178	111664178	Missense_Mutation	C	T	p.P821S
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111664115	111664204	111664179	111664180	Missense_Mutation	CC	AA	p.P821Q
EW16_BONE	111667779	111667922	111667789	111667789	Missense_Mutation	G	A	p.S833N
BICR18_UPPER_AERODIGESTIVE_TRACT	111667779	111667922	111667809	111667809	Missense_Mutation	C	T	p.P840S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111667779	111667922	111667809	111667809	Missense_Mutation	C	T	p.P840S
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111667779	111667922	111667809	111667809	Missense_Mutation	C	T	p.P840S
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111667779	111667922	111667809	111667809	Missense_Mutation	C	T	p.P840S
S117_SOFT_TISSUE	111667779	111667922	111667809	111667809	Missense_Mutation	C	T	p.P840S
MESSA_SOFT_TISSUE	111667779	111667922	111667880	111667880	Missense_Mutation	G	C	p.E863D
NCIH510_LUNG	111667779	111667922	111667880	111667880	Missense_Mutation	G	C	p.E863D
HKA1_SKIN	111671419	111671559	111671424	111671424	Missense_Mutation	T	A	p.F879L
CAMA1_BREAST	111671419	111671559	111671437	111671437	Missense_Mutation	G	A	p.E884K
HT115_LARGE_INTESTINE	111671419	111671559	111671489	111671489	Missense_Mutation	G	A	p.R901Q
HH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111671419	111671559	111671548	111671548	Missense_Mutation	A	G	p.I921V
JHU029_UPPER_AERODIGESTIVE_TRACT	111671419	111671559	111671548	111671548	Missense_Mutation	A	G	p.I921V
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	111680955	111681159	111681009	111681009	Missense_Mutation	A	G	p.N976S
ISTMES1_PLEURA	111680955	111681159	111681040	111681040	Missense_Mutation	G	C	p.L986F
SNGM_ENDOMETRIUM	111686525	111686671	111686534	111686534	Missense_Mutation	A	G	p.M1060V
BICR18_UPPER_AERODIGESTIVE_TRACT	111686525	111686671	111686658	111686658	Missense_Mutation	G	A	p.R1101K
SW13_ADRENAL_CORTEX	111602911	111604259	111603844	111603844	Nonsense_Mutation	T	A	p.L307*
SNU81_LARGE_INTESTINE	111671419	111671559	111671488	111671488	Nonsense_Mutation	C	T	p.R901*
SARC9371_BONE	111667779	111667922	111667780	111667780	Splice_Site	G	A	p.G830D

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PHLDB2

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 PHLDB2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PHLDB2

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RelatedDrugs for PHLDB2

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 PHLDB2

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 PHLDB2

Exon skipping events across known transcript of Ensembl for PHLDB2 from UCSC genome browser

Gene isoform structures and expression levels for PHLDB2

Exon skipping events with PSIs in TCGA for PHLDB2

Exon skipping events with PSIs in GTEx for PHLDB2

Open reading frame (ORF) annotation in the exon skipping event for PHLDB2

Infer the effects of exon skipping event on protein functional features for PHLDB2

SNVs in the skipped exons for PHLDB2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PHLDB2

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PHLDB2

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PHLDB2

RelatedDrugs for PHLDB2

RelatedDiseases for PHLDB2