ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for LLGL2

Gene summary

Gene information	Gene symbol	LLGL2
	Gene ID	3993
	Gene name	LLGL2, scribble cell polarity complex component
	Synonyms	HGL\|Hugl-2\|LGL2
	Cytomap	17q25.1
	Type of gene	protein-coding
	Description	lethal(2) giant larvae protein homolog 2human giant larvae homologlethal giant larvae homolog 2, scribble cell polarity complex component
	Modification date	20180523
	UniProtAcc	Q6P1M3
	Context	PubMed: LLGL2 [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
LLGL2	GO:0032878	regulation of establishment or maintenance of cell polarity	12725730

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Exon skipping events across known transcript of Ensembl for LLGL2 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 LLGL2

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 LLGL2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_156089	17	73521869:73521906:73529722:73529786:73539477:73539582	73529722:73529786	ENSG00000073350.9	ENST00000578363.1
exon_skip_156092	17	73521869:73521906:73534611:73534717:73539477:73539582	73534611:73534717	ENSG00000073350.9	ENST00000579392.1
exon_skip_156096	17	73521869:73521906:73539477:73539582:73552126:73552170	73539477:73539582	ENSG00000073350.9	ENST00000375227.4,ENST00000392550.3,ENST00000167462.5
exon_skip_156113	17	73559096:73559259:73559411:73559544:73559832:73559887	73559411:73559544	ENSG00000073350.9	ENST00000375227.4,ENST00000392550.3,ENST00000545227.2,ENST00000578363.1,ENST00000577200.1,ENST00000167462.5
exon_skip_156117	17	73559854:73559887:73560433:73560588:73564556:73564774	73560433:73560588	ENSG00000073350.9	ENST00000392550.3,ENST00000545227.2,ENST00000577200.1,ENST00000167462.5
exon_skip_156133	17	73565301:73565406:73566043:73566336:73566428:73566517	73566043:73566336	ENSG00000073350.9	ENST00000392550.3,ENST00000578638.1,ENST00000545227.2,ENST00000577500.1,ENST00000577200.1,ENST00000578719.1,ENST00000167462.5
exon_skip_156136	17	73567036:73567181:73567747:73567864:73567978:73568145	73567747:73567864	ENSG00000073350.9	ENST00000392550.3,ENST00000578638.1,ENST00000545227.2,ENST00000577500.1,ENST00000577200.1,ENST00000167462.5
exon_skip_156139	17	73569657:73569712:73570032:73570061:73570293:73570341	73570032:73570061	ENSG00000073350.9	ENST00000392550.3,ENST00000578638.1,ENST00000545227.2,ENST00000582393.1,ENST00000577200.1,ENST00000167462.5
exon_skip_156150	17	73570301:73570341:73570533:73570576:73570690:73570749	73570533:73570576	ENSG00000073350.9	ENST00000392550.3,ENST00000578638.1,ENST00000583514.1,ENST00000577211.1,ENST00000577200.1
exon_skip_156153	17	73570293:73570341:73570533:73570749:73570951:73571002	73570533:73570749	ENSG00000073350.9	ENST00000582393.1
exon_skip_156155	17	73570293:73570341:73570690:73570749:73570951:73571002	73570690:73570749	ENSG00000073350.9	ENST00000545227.2,ENST00000577500.1,ENST00000167462.5
exon_skip_156159	17	73570533:73570576:73570690:73570749:73570951:73571002	73570690:73570749	ENSG00000073350.9	ENST00000392550.3,ENST00000583514.1
exon_skip_156160	17	73570533:73570576:73570690:73570749:73570954:73570987	73570690:73570749	ENSG00000073350.9	ENST00000578638.1,ENST00000577211.1,ENST00000577200.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for LLGL2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_156089	17	73521869:73521906:73529722:73529786:73539477:73539582	73529722:73529786	ENSG00000073350.9	ENST00000578363.1
exon_skip_156092	17	73521869:73521906:73534611:73534717:73539477:73539582	73534611:73534717	ENSG00000073350.9	ENST00000579392.1
exon_skip_156096	17	73521869:73521906:73539477:73539582:73552126:73552170	73539477:73539582	ENSG00000073350.9	ENST00000167462.5,ENST00000375227.4,ENST00000392550.3
exon_skip_156113	17	73559096:73559259:73559411:73559544:73559832:73559887	73559411:73559544	ENSG00000073350.9	ENST00000167462.5,ENST00000375227.4,ENST00000392550.3,ENST00000578363.1,ENST00000577200.1,ENST00000545227.2
exon_skip_156117	17	73559854:73559887:73560433:73560588:73564556:73564774	73560433:73560588	ENSG00000073350.9	ENST00000167462.5,ENST00000392550.3,ENST00000577200.1,ENST00000545227.2
exon_skip_156133	17	73565301:73565406:73566043:73566336:73566428:73566517	73566043:73566336	ENSG00000073350.9	ENST00000167462.5,ENST00000392550.3,ENST00000577200.1,ENST00000545227.2,ENST00000578638.1,ENST00000577500.1,ENST00000578719.1
exon_skip_156136	17	73567036:73567181:73567747:73567864:73567978:73568145	73567747:73567864	ENSG00000073350.9	ENST00000167462.5,ENST00000392550.3,ENST00000577200.1,ENST00000545227.2,ENST00000578638.1,ENST00000577500.1
exon_skip_156139	17	73569657:73569712:73570032:73570061:73570293:73570341	73570032:73570061	ENSG00000073350.9	ENST00000167462.5,ENST00000392550.3,ENST00000577200.1,ENST00000545227.2,ENST00000578638.1,ENST00000582393.1
exon_skip_156150	17	73570301:73570341:73570533:73570576:73570690:73570749	73570533:73570576	ENSG00000073350.9	ENST00000392550.3,ENST00000577200.1,ENST00000578638.1,ENST00000583514.1,ENST00000577211.1
exon_skip_156153	17	73570293:73570341:73570533:73570749:73570951:73571002	73570533:73570749	ENSG00000073350.9	ENST00000582393.1
exon_skip_156155	17	73570293:73570341:73570690:73570749:73570951:73571002	73570690:73570749	ENSG00000073350.9	ENST00000167462.5,ENST00000545227.2,ENST00000577500.1
exon_skip_156159	17	73570533:73570576:73570690:73570749:73570951:73571002	73570690:73570749	ENSG00000073350.9	ENST00000392550.3,ENST00000583514.1
exon_skip_156160	17	73570533:73570576:73570690:73570749:73570954:73570987	73570690:73570749	ENSG00000073350.9	ENST00000577200.1,ENST00000578638.1,ENST00000577211.1

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 LLGL2

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
ENST00000392550	73539477	73539582	5CDS-5UTR
ENST00000392550	73559411	73559544	Frame-shift
ENST00000392550	73560433	73560588	Frame-shift
ENST00000392550	73566043	73566336	Frame-shift
ENST00000392550	73570032	73570061	Frame-shift
ENST00000392550	73570533	73570576	Frame-shift
ENST00000392550	73570690	73570749	Frame-shift
ENST00000392550	73567747	73567864	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
ENST00000392550	73539477	73539582	5CDS-5UTR
ENST00000392550	73559411	73559544	Frame-shift
ENST00000392550	73560433	73560588	Frame-shift
ENST00000392550	73566043	73566336	Frame-shift
ENST00000392550	73570032	73570061	Frame-shift
ENST00000392550	73570533	73570576	Frame-shift
ENST00000392550	73570690	73570749	Frame-shift
ENST00000392550	73567747	73567864	In-frame

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Infer the effects of exon skipping event on protein functional features for LLGL2

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
ENST00000392550	3526	1020	73567747	73567864	2294	2410	725	764

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
ENST00000392550	3526	1020	73567747	73567864	2294	2410	725	764

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
Q6P1M3	725	764	357	1020	Alternative sequence	ID=VSP_047388;Note=In isoform B. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6P1M3	725	764	1	1020	Chain	ID=PRO_0000232728;Note=Lethal(2) giant larvae protein homolog 2
Q6P1M3	725	764	748	748	Natural variant	ID=VAR_034058;Note=R->H;Dbxref=dbSNP:rs35474687
Q6P1M3	725	764	759	759	Natural variant	ID=VAR_050073;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs1661715,PMID:15489334
Q6P1M3	725	764	713	769	Repeat	Note=WD 11

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
Q6P1M3	725	764	357	1020	Alternative sequence	ID=VSP_047388;Note=In isoform B. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6P1M3	725	764	1	1020	Chain	ID=PRO_0000232728;Note=Lethal(2) giant larvae protein homolog 2
Q6P1M3	725	764	748	748	Natural variant	ID=VAR_034058;Note=R->H;Dbxref=dbSNP:rs35474687
Q6P1M3	725	764	759	759	Natural variant	ID=VAR_050073;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs1661715,PMID:15489334
Q6P1M3	725	764	713	769	Repeat	Note=WD 11

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SNVs in the skipped exons for LLGL2

- 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.

LLGL2_LIHC_exon_skip_156133_psi_boxplot.png
boxplot

LLGL2_LUAD_exon_skip_156133_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-G3-A3CJ-01	exon_skip_156117	73560434	73560588	73560534	73560534	Frame_Shift_Del	T	-	p.D327fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_156117	73560434	73560588	73560534	73560534	Frame_Shift_Del	T	-	p.F328fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_156133	73566044	73566336	73566221	73566221	Frame_Shift_Del	C	-	p.P588fs
KICH	TCGA-KN-8424-01	exon_skip_156133	73566044	73566336	73566231	73566231	Frame_Shift_Del	T	-	p.V590fs
LIHC	TCGA-DD-A3A1-01	exon_skip_156136	73567748	73567864	73567786	73567786	Frame_Shift_Del	G	-	p.G740fs
SKCM	TCGA-EE-A2GC-06	exon_skip_156096	73539478	73539582	73539582	73539583	Frame_Shift_Ins	-	GT	p.K25fs
LUAD	TCGA-97-7937-01	exon_skip_156133	73566044	73566336	73566089	73566089	Nonsense_Mutation	G	T	p.E543*
UCEC	TCGA-A5-A0VP-01	exon_skip_156136	73567748	73567864	73567858	73567858	Nonsense_Mutation	G	T	p.E763*
BLCA	TCGA-2F-A9KR-01	exon_skip_156153	73570534	73570749	73570736	73570736	Nonsense_Mutation	C	A	p.S1000*
BLCA	TCGA-2F-A9KR-01	exon_skip_156160 exon_skip_156159 exon_skip_156155	73570691	73570749	73570736	73570736	Nonsense_Mutation	C	A	p.S1000*
UCEC	TCGA-BS-A0TJ-01	exon_skip_156153	73570534	73570749	73570746	73570746	Nonsense_Mutation	G	T	p.G1018*
UCEC	TCGA-BS-A0TJ-01	exon_skip_156160 exon_skip_156159 exon_skip_156155	73570691	73570749	73570746	73570746	Nonsense_Mutation	G	T	p.G1018*
SKCM	TCGA-EE-A2GC-06	exon_skip_156096	73539478	73539582	73539582	73539583	Splice_Site	-	GT	p.K25_splice
COAD	TCGA-CM-5861-01	exon_skip_156113	73559412	73559544	73559411	73559411	Splice_Site	G	A	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-BS-A0TJ-01
	Cancer type: UCEC
	ESID: exon_skip_156155
	Skipped exon start: 73570691
	Skipped exon end: 73570749
	Mutation start: 73570746
	Mutation end: 73570746
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: T
	AAchange: p.G1018*
	Sample: TCGA-BS-A0TJ-01
	Cancer type: UCEC
	ESID: exon_skip_156153
	Skipped exon start: 73570534
	Skipped exon end: 73570749
	Mutation start: 73570746
	Mutation end: 73570746
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: T
	AAchange: p.G1018*
exon_skip_156153_UCEC_TCGA-BS-A0TJ-01.png
exon_skip_294586_UCEC_TCGA-BS-A0TJ-01.png
	Sample: TCGA-97-7937-01
	Cancer type: LUAD
	ESID: exon_skip_156133
	Skipped exon start: 73566044
	Skipped exon end: 73566336
	Mutation start: 73566089
	Mutation end: 73566089
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: T
	AAchange: p.E543*
exon_skip_156133_LUAD_TCGA-97-7937-01.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
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73539478	73539582	73539544	73539544	Missense_Mutation	C	T	p.R13W
M980513_SKIN	73539478	73539582	73539551	73539551	Missense_Mutation	G	A	p.R15K
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73539478	73539582	73539572	73539572	Missense_Mutation	A	G	p.Q22R
HEC265_ENDOMETRIUM	73559412	73559544	73559442	73559442	Missense_Mutation	G	A	p.G242S
MMACSF_SKIN	73559412	73559544	73559442	73559442	Missense_Mutation	G	A	p.G242S
SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73559412	73559544	73559536	73559536	Missense_Mutation	T	C	p.V273A
NCIH2342_LUNG	73560434	73560588	73560469	73560469	Missense_Mutation	G	T	p.R306L
KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73560434	73560588	73560472	73560472	Missense_Mutation	C	A	p.A307D
NCIH1092_LUNG	73566044	73566336	73566067	73566067	Missense_Mutation	C	G	p.D535E
MEWO_SKIN	73566044	73566336	73566068	73566068	Missense_Mutation	G	A	p.E536K
HUCCT1_BILIARY_TRACT	73566044	73566336	73566186	73566186	Missense_Mutation	C	T	p.P575L
NCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73566044	73566336	73566225	73566225	Missense_Mutation	C	T	p.P588L
22RV1_PROSTATE	73566044	73566336	73566320	73566320	Missense_Mutation	C	T	p.R620W
SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73567748	73567864	73567828	73567828	Missense_Mutation	G	A	p.E753K
JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73567748	73567864	73567831	73567831	Missense_Mutation	C	T	p.R754W
HEC108_ENDOMETRIUM	73570534	73570749	73570543	73570543	Missense_Mutation	A	C	p.K988T
HEC108_ENDOMETRIUM	73570534	73570576	73570543	73570543	Missense_Mutation	A	C	p.K988T
HH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73570691	73570749	73570705	73570705	Missense_Mutation	G	A	p.R1004H
HH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	73570534	73570749	73570705	73570705	Missense_Mutation	G	A	p.R1004H
HCC1395_BREAST	73570691	73570749	73570719	73570719	Missense_Mutation	G	A	p.A1009T
HCC1395_BREAST	73570534	73570749	73570719	73570719	Missense_Mutation	G	A	p.A1009T
HCC1395_MATCHED_NORMAL_TISSUE	73570691	73570749	73570719	73570719	Missense_Mutation	G	A	p.A1009T
HCC1395_MATCHED_NORMAL_TISSUE	73570534	73570749	73570719	73570719	Missense_Mutation	G	A	p.A1009T
HEC1A_ENDOMETRIUM	73570691	73570749	73570725	73570725	Missense_Mutation	G	A	p.G1011R
HEC1A_ENDOMETRIUM	73570534	73570749	73570725	73570725	Missense_Mutation	G	A	p.G1011R
BT483_BREAST	73566044	73566336	73566194	73566194	Nonsense_Mutation	C	T	p.Q578*
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	73539478	73539582	73539581	73539581	Splice_Site	A	T	p.K25M
SW684_SOFT_TISSUE	73570691	73570749	73570691	73570691	Splice_Site	G	A	p.G999G
SW684_SOFT_TISSUE	73570534	73570749	73570691	73570691	Splice_Site	G	A	p.G999G

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LLGL2

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_156136	17	73567036:73567181:73567747:73567864:73567978:73568145	73567747:73567864	ENST00000392550.3,ENST00000578638.1,ENST00000545227.2,ENST00000577500.1,ENST00000577200.1,ENST00000167462.5	CESC	rs1661715	chr17:73567846	C/T	1.81e-05
exon_skip_156136	17	73567036:73567181:73567747:73567864:73567978:73568145	73567747:73567864	ENST00000392550.3,ENST00000578638.1,ENST00000545227.2,ENST00000577500.1,ENST00000577200.1,ENST00000167462.5	COAD	rs1661715	chr17:73567846	C/T	4.42e-09
exon_skip_156136	17	73567036:73567181:73567747:73567864:73567978:73568145	73567747:73567864	ENST00000392550.3,ENST00000578638.1,ENST00000545227.2,ENST00000577500.1,ENST00000577200.1,ENST00000167462.5	HNSC	rs1661715	chr17:73567846	C/T	1.16e-07
exon_skip_156136	17	73567036:73567181:73567747:73567864:73567978:73568145	73567747:73567864	ENST00000392550.3,ENST00000578638.1,ENST00000545227.2,ENST00000577500.1,ENST00000577200.1,ENST00000167462.5	KIRP	rs1661715	chr17:73567846	C/T	1.16e-06
exon_skip_156136	17	73567036:73567181:73567747:73567864:73567978:73568145	73567747:73567864	ENST00000392550.3,ENST00000578638.1,ENST00000545227.2,ENST00000577500.1,ENST00000577200.1,ENST00000167462.5	LUAD	rs1661715	chr17:73567846	C/T	1.17e-04
exon_skip_156136	17	73567036:73567181:73567747:73567864:73567978:73568145	73567747:73567864	ENST00000392550.3,ENST00000578638.1,ENST00000545227.2,ENST00000577500.1,ENST00000577200.1,ENST00000167462.5	LUAD	rs1661715	chr17:73567846	C/T	1.22e-03
exon_skip_156136	17	73567036:73567181:73567747:73567864:73567978:73568145	73567747:73567864	ENST00000392550.3,ENST00000578638.1,ENST00000545227.2,ENST00000577500.1,ENST00000577200.1,ENST00000167462.5	LIHC	rs1661715	chr17:73567846	C/T	7.19e-07
exon_skip_156136	17	73567036:73567181:73567747:73567864:73567978:73568145	73567747:73567864	ENST00000392550.3,ENST00000578638.1,ENST00000545227.2,ENST00000577500.1,ENST00000577200.1,ENST00000167462.5	PAAD	rs1661715	chr17:73567846	C/T	2.96e-04
exon_skip_156136	17	73567036:73567181:73567747:73567864:73567978:73568145	73567747:73567864	ENST00000392550.3,ENST00000578638.1,ENST00000545227.2,ENST00000577500.1,ENST00000577200.1,ENST00000167462.5	PRAD	rs1661715	chr17:73567846	C/T	1.58e-06
exon_skip_156136	17	73567036:73567181:73567747:73567864:73567978:73568145	73567747:73567864	ENST00000392550.3,ENST00000578638.1,ENST00000545227.2,ENST00000577500.1,ENST00000577200.1,ENST00000167462.5	STAD	rs1661715	chr17:73567846	C/T	9.98e-07
exon_skip_156136	17	73567036:73567181:73567747:73567864:73567978:73568145	73567747:73567864	ENST00000392550.3,ENST00000578638.1,ENST00000545227.2,ENST00000577500.1,ENST00000577200.1,ENST00000167462.5	STAD	rs1661715	chr17:73567846	C/T	9.92e-04
exon_skip_156136	17	73567036:73567181:73567747:73567864:73567978:73568145	73567747:73567864	ENST00000392550.3,ENST00000578638.1,ENST00000545227.2,ENST00000577500.1,ENST00000577200.1,ENST00000167462.5	THCA	rs1661715	chr17:73567846	C/T	1.30e-05

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LLGL2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LLGL2

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RelatedDrugs for LLGL2

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 LLGL2

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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