ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for PHLDB1

Gene summary

Gene information	Gene symbol	PHLDB1
	Gene ID	23187
	Gene name	pleckstrin homology like domain family B member 1
	Synonyms	LL5A
	Cytomap	11q23.3
	Type of gene	protein-coding
	Description	pleckstrin homology-like domain family B member 1LL5alphapleckstrin homology-like domain family B member 1 variant 3pleckstrin homology-like domain family B member 1 variant 4protein LL5-alpha
	Modification date	20180520
	UniProtAcc	Q86UU1
	Context	PubMed: PHLDB1 [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 PHLDB1 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 PHLDB1

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 PHLDB1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_65638	11	118478357:118478414:118484008:118484165:118484530:118484611	118484008:118484165	ENSG00000019144.12	ENST00000530994.1
exon_skip_65642	11	118485273:118485397:118486755:118486926:118495649:118495775	118486755:118486926	ENSG00000019144.12	ENST00000356063.5,ENST00000530708.1,ENST00000530994.1,ENST00000528594.1,ENST00000361417.2
exon_skip_65644	11	118486755:118486926:118495507:118495561:118495649:118495775	118495507:118495561	ENSG00000019144.12	ENST00000532639.1
exon_skip_65648	11	118486755:118486926:118495649:118495775:118498020:118498112	118495649:118495775	ENSG00000019144.12	ENST00000356063.5,ENST00000527259.1,ENST00000530994.1,ENST00000528594.1,ENST00000361417.2
exon_skip_65658	11	118495649:118495775:118498020:118499366:118501923:118502196	118498020:118499366	ENSG00000019144.12	ENST00000356063.5,ENST00000530994.1,ENST00000528594.1,ENST00000361417.2
exon_skip_65667	11	118502692:118502770:118502875:118503013:118505639:118505769	118502875:118503013	ENSG00000019144.12	ENST00000525698.1
exon_skip_65668	11	118502692:118502770:118502875:118503013:118506110:118506266	118502875:118503013	ENSG00000019144.12	ENST00000356063.5,ENST00000530994.1,ENST00000532517.1,ENST00000534672.1,ENST00000528594.1,ENST00000361417.2
exon_skip_65679	11	118502875:118503013:118505639:118505769:118506110:118506266	118505639:118505769	ENSG00000019144.12	ENST00000525698.1
exon_skip_65684	11	118509608:118509719:118509879:118509969:118514517:118514658	118509879:118509969	ENSG00000019144.12	ENST00000356063.5,ENST00000530994.1,ENST00000534140.1,ENST00000527898.1,ENST00000534672.1,ENST00000528594.1,ENST00000525698.1,ENST00000531862.1
exon_skip_65694	11	118509879:118509969:118512971:118513112:118514517:118514658	118512971:118513112	ENSG00000019144.12	ENST00000532517.1,ENST00000361417.2
exon_skip_65696	11	118509879:118509969:118514517:118514658:118514789:118514892	118514517:118514658	ENSG00000019144.12	ENST00000356063.5,ENST00000530994.1,ENST00000534140.1,ENST00000527898.1,ENST00000534672.1,ENST00000528594.1,ENST00000525698.1
exon_skip_65700	11	118514806:118514892:118515364:118515409:118516073:118516138	118515364:118515409	ENSG00000019144.12	ENST00000527898.1,ENST00000532517.1
exon_skip_65705	11	118520781:118520898:118521149:118521252:118526314:118526400	118521149:118521252	ENSG00000019144.12	ENST00000356063.5,ENST00000530994.1,ENST00000534140.1,ENST00000527898.1,ENST00000532517.1,ENST00000534672.1,ENST00000528594.1,ENST00000524713.1,ENST00000526537.1,ENST00000525698.1,ENST00000361417.2
exon_skip_65711	11	118521149:118521252:118526314:118526400:118527392:118527551	118526314:118526400	ENSG00000019144.12	ENST00000356063.5,ENST00000530994.1,ENST00000534140.1,ENST00000527898.1,ENST00000532517.1,ENST00000534672.1,ENST00000528594.1,ENST00000524713.1,ENST00000526537.1,ENST00000525698.1
exon_skip_65714	11	118526319:118526400:118526569:118526602:118527392:118527551	118526569:118526602	ENSG00000019144.12	ENST00000361417.2

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for PHLDB1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_65638	11	118478357:118478414:118484008:118484165:118484530:118484611	118484008:118484165	ENSG00000019144.12	ENST00000530994.1
exon_skip_65642	11	118485273:118485397:118486755:118486926:118495649:118495775	118486755:118486926	ENSG00000019144.12	ENST00000361417.2,ENST00000530994.1,ENST00000528594.1,ENST00000530708.1,ENST00000356063.5
exon_skip_65644	11	118486755:118486926:118495507:118495561:118495649:118495775	118495507:118495561	ENSG00000019144.12	ENST00000532639.1
exon_skip_65648	11	118486755:118486926:118495649:118495775:118498020:118498112	118495649:118495775	ENSG00000019144.12	ENST00000361417.2,ENST00000530994.1,ENST00000528594.1,ENST00000356063.5,ENST00000527259.1
exon_skip_65658	11	118495649:118495775:118498020:118499366:118501923:118502196	118498020:118499366	ENSG00000019144.12	ENST00000361417.2,ENST00000530994.1,ENST00000528594.1,ENST00000356063.5
exon_skip_65667	11	118502692:118502770:118502875:118503013:118505639:118505769	118502875:118503013	ENSG00000019144.12	ENST00000525698.1
exon_skip_65668	11	118502692:118502770:118502875:118503013:118506110:118506266	118502875:118503013	ENSG00000019144.12	ENST00000361417.2,ENST00000530994.1,ENST00000528594.1,ENST00000356063.5,ENST00000532517.1,ENST00000534672.1
exon_skip_65679	11	118502875:118503013:118505639:118505769:118506110:118506266	118505639:118505769	ENSG00000019144.12	ENST00000525698.1
exon_skip_65684	11	118509608:118509719:118509879:118509969:118514517:118514658	118509879:118509969	ENSG00000019144.12	ENST00000530994.1,ENST00000528594.1,ENST00000356063.5,ENST00000534672.1,ENST00000534140.1,ENST00000525698.1,ENST00000531862.1,ENST00000527898.1
exon_skip_65694	11	118509879:118509969:118512971:118513112:118514517:118514658	118512971:118513112	ENSG00000019144.12	ENST00000361417.2,ENST00000532517.1
exon_skip_65696	11	118509879:118509969:118514517:118514658:118514789:118514892	118514517:118514658	ENSG00000019144.12	ENST00000530994.1,ENST00000528594.1,ENST00000356063.5,ENST00000534672.1,ENST00000534140.1,ENST00000525698.1,ENST00000527898.1
exon_skip_65700	11	118514806:118514892:118515364:118515409:118516073:118516138	118515364:118515409	ENSG00000019144.12	ENST00000532517.1,ENST00000527898.1
exon_skip_65705	11	118520781:118520898:118521149:118521252:118526314:118526400	118521149:118521252	ENSG00000019144.12	ENST00000361417.2,ENST00000530994.1,ENST00000528594.1,ENST00000356063.5,ENST00000532517.1,ENST00000534672.1,ENST00000534140.1,ENST00000525698.1,ENST00000527898.1,ENST00000524713.1,ENST00000526537.1
exon_skip_65711	11	118521149:118521252:118526314:118526400:118527392:118527551	118526314:118526400	ENSG00000019144.12	ENST00000530994.1,ENST00000528594.1,ENST00000356063.5,ENST00000532517.1,ENST00000534672.1,ENST00000534140.1,ENST00000525698.1,ENST00000527898.1,ENST00000524713.1,ENST00000526537.1
exon_skip_65714	11	118526319:118526400:118526569:118526602:118527392:118527551	118526569:118526602	ENSG00000019144.12	ENST00000361417.2

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 PHLDB1

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
ENST00000361417	118498020	118499366	Frame-shift
ENST00000361417	118521149	118521252	Frame-shift
ENST00000361417	118486755	118486926	In-frame
ENST00000361417	118495649	118495775	In-frame
ENST00000361417	118502875	118503013	In-frame
ENST00000361417	118512971	118513112	In-frame
ENST00000361417	118526569	118526602	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
ENST00000361417	118498020	118499366	Frame-shift
ENST00000361417	118521149	118521252	Frame-shift
ENST00000361417	118486755	118486926	In-frame
ENST00000361417	118495649	118495775	In-frame
ENST00000361417	118502875	118503013	In-frame
ENST00000361417	118512971	118513112	In-frame
ENST00000361417	118526569	118526602	In-frame

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Infer the effects of exon skipping event on protein functional features for PHLDB1

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
ENST00000361417	5770	1377	118486755	118486926	596	766	61	118
ENST00000361417	5770	1377	118495649	118495775	767	892	118	160
ENST00000361417	5770	1377	118502875	118503013	2653	2790	747	793
ENST00000361417	5770	1377	118512971	118513112	3148	3288	912	959
ENST00000361417	5770	1377	118526569	118526602	4372	4404	1320	1331

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
ENST00000361417	5770	1377	118486755	118486926	596	766	61	118
ENST00000361417	5770	1377	118495649	118495775	767	892	118	160
ENST00000361417	5770	1377	118502875	118503013	2653	2790	747	793
ENST00000361417	5770	1377	118512971	118513112	3148	3288	912	959
ENST00000361417	5770	1377	118526569	118526602	4372	4404	1320	1331

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
Q86UU1	61	118	1	1377	Chain	ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1
Q86UU1	61	118	64	125	Domain	Note=FHA
Q86UU1	118	160	1	1377	Chain	ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1
Q86UU1	118	160	64	125	Domain	Note=FHA
Q86UU1	118	160	131	131	Modified residue	Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q6PDH0
Q86UU1	747	793	1	1377	Chain	ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1
Q86UU1	747	793	683	809	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UU1	912	959	913	959	Alternative sequence	ID=VSP_016737;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q86UU1	912	959	1	1377	Chain	ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1
Q86UU1	1320	1331	1043	1377	Alternative sequence	ID=VSP_016739;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q86UU1	1320	1331	1321	1331	Alternative sequence	ID=VSP_016740;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q86UU1	1320	1331	1	1377	Chain	ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1
Q86UU1	1320	1331	1256	1370	Domain	Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00145

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
Q86UU1	61	118	1	1377	Chain	ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1
Q86UU1	61	118	64	125	Domain	Note=FHA
Q86UU1	118	160	1	1377	Chain	ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1
Q86UU1	118	160	64	125	Domain	Note=FHA
Q86UU1	118	160	131	131	Modified residue	Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q6PDH0
Q86UU1	747	793	1	1377	Chain	ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1
Q86UU1	747	793	683	809	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q86UU1	912	959	913	959	Alternative sequence	ID=VSP_016737;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q86UU1	912	959	1	1377	Chain	ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1
Q86UU1	1320	1331	1043	1377	Alternative sequence	ID=VSP_016739;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q86UU1	1320	1331	1321	1331	Alternative sequence	ID=VSP_016740;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q86UU1	1320	1331	1	1377	Chain	ID=PRO_0000053891;Note=Pleckstrin homology-like domain family B member 1
Q86UU1	1320	1331	1256	1370	Domain	Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00145

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SNVs in the skipped exons for PHLDB1

- 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.

PHLDB1_LGG_exon_skip_65694_psi_boxplot.png
boxplot

PHLDB1_LUAD_exon_skip_65658_psi_boxplot.png
boxplot

PHLDB1_SKCM_exon_skip_65658_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
LIHC	TCGA-DD-A3A0-01	exon_skip_65648	118495650	118495775	118495736	118495736	Frame_Shift_Del	G	-	p.G149fs
STAD	TCGA-CG-4305-01	exon_skip_65648	118495650	118495775	118495754	118495754	Frame_Shift_Del	C	-	p.G153fs
LUAD	TCGA-55-7907-01	exon_skip_65658	118498021	118499366	118498054	118498054	Frame_Shift_Del	C	-	p.T172fs
LIHC	TCGA-DD-A39Y-01	exon_skip_65658	118498021	118499366	118498072	118498072	Frame_Shift_Del	G	-	p.R178fs
LIHC	TCGA-DD-A3A0-01	exon_skip_65658	118498021	118499366	118498742	118498742	Frame_Shift_Del	C	-	p.R401fs
STAD	TCGA-HU-A4GT-01	exon_skip_65658	118498021	118499366	118498911	118498911	Frame_Shift_Del	C	-	p.L457fs
STAD	TCGA-HU-A4GT-01	exon_skip_65658	118498021	118499366	118498911	118498911	Frame_Shift_Del	C	-	p.P458fs
STAD	TCGA-HU-8602-01	exon_skip_65684	118509880	118509969	118509928	118509928	Frame_Shift_Del	G	-	p.T898fs
LGG	TCGA-WY-A85C-01	exon_skip_65694	118512972	118513112	118513008	118513021	Frame_Shift_Del	CAGTGGTACCAGGA	-	p.QWYQE925fs
LIHC	TCGA-DD-A39Y-01	exon_skip_65696	118514518	118514658	118514560	118514560	Frame_Shift_Del	C	-	p.P974fs
ACC	TCGA-OR-A5J5-01	exon_skip_65648	118495650	118495775	118495742	118495742	Nonsense_Mutation	C	T	p.R150*
ACC	TCGA-OR-A5J5-01	exon_skip_65648	118495650	118495775	118495742	118495742	Nonsense_Mutation	C	T	p.R150X
THCA	TCGA-ET-A39J-01	exon_skip_65658	118498021	118499366	118498713	118498713	Nonsense_Mutation	C	T	p.R392*
SKCM	TCGA-D3-A2JF-06	exon_skip_65658	118498021	118499366	118499023	118499023	Nonsense_Mutation	G	A	p.W495*
SKCM	TCGA-D3-A2JF-06	exon_skip_65658	118498021	118499366	118499023	118499023	Nonsense_Mutation	G	A	p.W495X
PAAD	TCGA-IB-7651-01	exon_skip_65705	118521150	118521252	118521155	118521155	Nonsense_Mutation	C	A	p.C1259*

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-WY-A85C-01
	Cancer type: LGG
	ESID: exon_skip_65694
	Skipped exon start: 118512972
	Skipped exon end: 118513112
	Mutation start: 118513008
	Mutation end: 118513021
	Mutation type: Frame_Shift_Del
	Reference seq: CAGTGGTACCAGGA
	Mutation seq: -
	AAchange: p.QWYQE925fs
exon_skip_65694_LGG_TCGA-WY-A85C-01.png
	Sample: TCGA-HU-A4GT-01
	Cancer type: STAD
	ESID: exon_skip_65658
	Skipped exon start: 118498021
	Skipped exon end: 118499366
	Mutation start: 118498911
	Mutation end: 118498911
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.L457fs
	Sample: TCGA-HU-A4GT-01
	Cancer type: STAD
	ESID: exon_skip_65658
	Skipped exon start: 118498021
	Skipped exon end: 118499366
	Mutation start: 118498911
	Mutation end: 118498911
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.P458fs
exon_skip_121685_STAD_TCGA-HU-A4GT-01.png
exon_skip_135112_STAD_TCGA-HU-A4GT-01.png
exon_skip_135114_STAD_TCGA-HU-A4GT-01.png
exon_skip_295812_STAD_TCGA-HU-A4GT-01.png
exon_skip_310114_STAD_TCGA-HU-A4GT-01.png
exon_skip_314971_STAD_TCGA-HU-A4GT-01.png
exon_skip_328008_STAD_TCGA-HU-A4GT-01.png
exon_skip_347979_STAD_TCGA-HU-A4GT-01.png
exon_skip_347981_STAD_TCGA-HU-A4GT-01.png
exon_skip_45131_STAD_TCGA-HU-A4GT-01.png
exon_skip_45132_STAD_TCGA-HU-A4GT-01.png
exon_skip_65658_STAD_TCGA-HU-A4GT-01.png
exon_skip_86427_STAD_TCGA-HU-A4GT-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
HEC265_ENDOMETRIUM	118498021	118499366	118499265	118499265	Frame_Shift_Del	A	-	p.K576fs
RKO_LARGE_INTESTINE	118498021	118499366	118499265	118499265	Frame_Shift_Del	A	-	p.K576fs
LS180_LARGE_INTESTINE	118514518	118514658	118514577	118514577	Frame_Shift_Del	C	-	p.G979fs
HCT15_LARGE_INTESTINE	118486756	118486926	118486773	118486773	Missense_Mutation	T	G	p.S68A
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118486756	118486926	118486918	118486918	Missense_Mutation	T	G	p.L116R
HCC2998_LARGE_INTESTINE	118495650	118495775	118495727	118495727	Missense_Mutation	A	C	p.I145L
SARC9371_BONE	118498021	118499366	118498027	118498027	Missense_Mutation	C	T	p.S163L
EMCBAC1_LUNG	118498021	118499366	118498072	118498072	Missense_Mutation	G	T	p.R178L
HEC108_ENDOMETRIUM	118498021	118499366	118498348	118498348	Missense_Mutation	A	G	p.H270R
HEC151_ENDOMETRIUM	118498021	118499366	118498428	118498428	Missense_Mutation	C	A	p.Q297K
HEC1A_ENDOMETRIUM	118498021	118499366	118498455	118498455	Missense_Mutation	G	A	p.A306T
SNU407_LARGE_INTESTINE	118498021	118499366	118498507	118498507	Missense_Mutation	C	T	p.P323L
KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118498021	118499366	118498521	118498521	Missense_Mutation	C	T	p.R328W
MDAMB361_BREAST	118498021	118499366	118498522	118498522	Missense_Mutation	G	A	p.R328Q
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118498021	118499366	118498545	118498545	Missense_Mutation	G	A	p.A336T
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118498021	118499366	118498591	118498591	Missense_Mutation	G	A	p.R351Q
OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118498021	118499366	118498594	118498594	Missense_Mutation	T	G	p.L352R
DETROIT562_UPPER_AERODIGESTIVE_TRACT	118498021	118499366	118498594	118498594	Missense_Mutation	T	G	p.L352R
SKMEL24_SKIN	118498021	118499366	118498704	118498704	Missense_Mutation	C	T	p.P389S
MFE296_ENDOMETRIUM	118498021	118499366	118498774	118498774	Missense_Mutation	G	A	p.S412N
SW1417_LARGE_INTESTINE	118498021	118499366	118498872	118498872	Missense_Mutation	C	T	p.R445C
NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118498021	118499366	118499002	118499002	Missense_Mutation	A	G	p.E488G
LU134A_LUNG	118498021	118499366	118499020	118499020	Missense_Mutation	G	T	p.R494L
ABC1_LUNG	118498021	118499366	118499056	118499056	Missense_Mutation	C	T	p.S506F
SISO_CERVIX	118498021	118499366	118499167	118499167	Missense_Mutation	G	A	p.S543N
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118498021	118499366	118499167	118499167	Missense_Mutation	G	A	p.S543N
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118498021	118499366	118499285	118499285	Missense_Mutation	C	G	p.I582M
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118498021	118499366	118499314	118499314	Missense_Mutation	A	G	p.Y592C
NCIH2291_LUNG	118498021	118499366	118499320	118499320	Missense_Mutation	G	A	p.R594Q
UACC893_BREAST	118502876	118503013	118502948	118502948	Missense_Mutation	G	A	p.A772T
H9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118502876	118503013	118502948	118502948	Missense_Mutation	G	A	p.A772T
HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118502876	118503013	118502948	118502948	Missense_Mutation	G	A	p.A772T
BICR18_UPPER_AERODIGESTIVE_TRACT	118502876	118503013	118503004	118503004	Missense_Mutation	G	C	p.E790D
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118512972	118513112	118513029	118513029	Missense_Mutation	G	T	p.A932S
HCT15_LARGE_INTESTINE	118514518	118514658	118514540	118514540	Missense_Mutation	G	A	p.G967D
SNU503_LARGE_INTESTINE	118514518	118514658	118514557	118514557	Missense_Mutation	C	A	p.L973I
LIM1215_LARGE_INTESTINE	118514518	118514658	118514569	118514569	Missense_Mutation	C	A	p.R977S
BB30HNC_UPPER_AERODIGESTIVE_TRACT	118514518	118514658	118514581	118514581	Missense_Mutation	C	G	p.L981V
DERL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118514518	118514658	118514612	118514612	Missense_Mutation	C	T	p.S991F
HCC1954_BREAST	118514518	118514658	118514644	118514644	Missense_Mutation	A	G	p.S1002G
HCC1954_MATCHED_NORMAL_TISSUE	118514518	118514658	118514644	118514644	Missense_Mutation	A	G	p.S1002G
SNU1077_ENDOMETRIUM	118521150	118521252	118521180	118521180	Missense_Mutation	G	A	p.G1268S
SUPB15_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118521150	118521252	118521218	118521218	Missense_Mutation	C	G	p.F1280L
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118521150	118521252	118521232	118521232	Missense_Mutation	G	A	p.R1285H
MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118526570	118526602	118526582	118526582	Missense_Mutation	C	T	p.R1325C
HCC2450_LUNG	118502876	118503013	118502984	118502984	Nonsense_Mutation	G	T	p.E784*
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	118526315	118526400	118526400	118526400	Splice_Site	G	T	p.K1320N

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PHLDB1

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
exon_skip_65696	11	118509879:118509969:118514517:118514658:118514789:118514892	118514517:118514658	ENST00000356063.5,ENST00000530994.1,ENST00000534140.1,ENST00000527898.1,ENST00000534672.1,ENST00000528594.1,ENST00000525698.1	LGG	rs11216938	chr11:118514625	C/T	8.73e-10
exon_skip_65696	11	118509879:118509969:118514517:118514658:118514789:118514892	118514517:118514658	ENST00000356063.5,ENST00000530994.1,ENST00000534140.1,ENST00000527898.1,ENST00000534672.1,ENST00000528594.1,ENST00000525698.1	LGG	rs11216938	chr11:118514625	C/T	3.56e-06
exon_skip_65696	11	118509879:118509969:118514517:118514658:118514789:118514892	118514517:118514658	ENST00000356063.5,ENST00000530994.1,ENST00000534140.1,ENST00000527898.1,ENST00000534672.1,ENST00000528594.1,ENST00000525698.1	LGG	rs11216938	chr11:118514625	C/T	2.12e-05
exon_skip_65696	11	118509879:118509969:118514517:118514658:118514789:118514892	118514517:118514658	ENST00000356063.5,ENST00000530994.1,ENST00000534140.1,ENST00000527898.1,ENST00000534672.1,ENST00000528594.1,ENST00000525698.1	LGG	rs11216938	chr11:118514625	C/T	1.60e-03
exon_skip_65696	11	118509879:118509969:118514517:118514658:118514789:118514892	118514517:118514658	ENST00000356063.5,ENST00000530994.1,ENST00000534140.1,ENST00000527898.1,ENST00000534672.1,ENST00000528594.1,ENST00000525698.1	LGG	rs11216938	chr11:118514625	C/T	1.86e-03
exon_skip_65696	11	118509879:118509969:118514517:118514658:118514789:118514892	118514517:118514658	ENST00000356063.5,ENST00000530994.1,ENST00000534140.1,ENST00000527898.1,ENST00000534672.1,ENST00000528594.1,ENST00000525698.1	KIRC	rs11216938	chr11:118514625	C/T	1.01e-03
exon_skip_65696	11	118509879:118509969:118514517:118514658:118514789:118514892	118514517:118514658	ENST00000356063.5,ENST00000530994.1,ENST00000534140.1,ENST00000527898.1,ENST00000534672.1,ENST00000528594.1,ENST00000525698.1	LUSC	rs11216938	chr11:118514625	C/T	3.08e-05
exon_skip_65696	11	118509879:118509969:118514517:118514658:118514789:118514892	118514517:118514658	ENST00000356063.5,ENST00000530994.1,ENST00000534140.1,ENST00000527898.1,ENST00000534672.1,ENST00000528594.1,ENST00000525698.1	PCPG	rs11216938	chr11:118514625	C/T	1.08e-03
exon_skip_65696	11	118509879:118509969:118514517:118514658:118514789:118514892	118514517:118514658	ENST00000356063.5,ENST00000530994.1,ENST00000534140.1,ENST00000527898.1,ENST00000534672.1,ENST00000528594.1,ENST00000525698.1	PAAD	rs11216938	chr11:118514625	C/T	2.70e-04
exon_skip_65696	11	118509879:118509969:118514517:118514658:118514789:118514892	118514517:118514658	ENST00000356063.5,ENST00000530994.1,ENST00000534140.1,ENST00000527898.1,ENST00000534672.1,ENST00000528594.1,ENST00000525698.1	PAAD	rs11216938	chr11:118514625	C/T	5.27e-04
exon_skip_65696	11	118509879:118509969:118514517:118514658:118514789:118514892	118514517:118514658	ENST00000356063.5,ENST00000530994.1,ENST00000534140.1,ENST00000527898.1,ENST00000534672.1,ENST00000528594.1,ENST00000525698.1	PRAD	rs11216938	chr11:118514625	C/T	1.02e-03
exon_skip_65696	11	118509879:118509969:118514517:118514658:118514789:118514892	118514517:118514658	ENST00000356063.5,ENST00000530994.1,ENST00000534140.1,ENST00000527898.1,ENST00000534672.1,ENST00000528594.1,ENST00000525698.1	SARC	rs11216938	chr11:118514625	C/T	4.16e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PHLDB1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PHLDB1

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RelatedDrugs for PHLDB1

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 PHLDB1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
PHLDB1	C0017638	Glioma	1	CTD_human

	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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