ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for LAMA3

Gene summary

Gene information	Gene symbol	LAMA3
	Gene ID	3909
	Gene name	laminin subunit alpha 3
	Synonyms	BM600\|E170\|LAMNA\|LOCS
	Cytomap	18q11.2
	Type of gene	protein-coding
	Description	laminin subunit alpha-3BM600 150kD subunitLAM3, alpha-3 subunitepiligrin 170 kda subunitepiligrin alpha 3 subunitkalinin 165kD subunitkalinin subunit alphalaminin 5, alpha-3 subunitlaminin A3laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM60
	Modification date	20180522
	UniProtAcc	Q16787
	Context	PubMed: LAMA3 [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 LAMA3 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 LAMA3

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 LAMA3

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_296080	18	21269647:21269941:21293883:21294036:21327906:21328024	21293883:21294036	ENSG00000053747.11	ENST00000399516.3,ENST00000585600.1
exon_skip_296081	18	21333684:21333776:21338359:21338475:21343368:21343487	21338359:21338475	ENSG00000053747.11	ENST00000399516.3,ENST00000313654.9,ENST00000585600.1
exon_skip_296082	18	21353460:21353551:21355755:21355887:21357520:21357583	21355755:21355887	ENSG00000053747.11	ENST00000399516.3,ENST00000313654.9,ENST00000585600.1
exon_skip_296084	18	21355755:21355887:21357520:21357583:21363986:21364121	21357520:21357583	ENSG00000053747.11	ENST00000399516.3,ENST00000313654.9,ENST00000585600.1
exon_skip_296088	18	21363986:21364121:21390329:21390467:21393020:21393067	21390329:21390467	ENSG00000053747.11	ENST00000399516.3,ENST00000313654.9
exon_skip_296089	18	21394366:21394466:21395151:21395204:21395431:21395537	21395151:21395204	ENSG00000053747.11	ENST00000399516.3,ENST00000313654.9
exon_skip_296090	18	21395431:21395537:21396351:21396451:21399804:21399961	21396351:21396451	ENSG00000053747.11	ENST00000399516.3,ENST00000313654.9
exon_skip_296092	18	21407367:21407431:21413791:21413952:21416944:21417053	21413791:21413952	ENSG00000053747.11	ENST00000399516.3,ENST00000313654.9,ENST00000591749.1
exon_skip_296093	18	21416944:21417053:21418744:21418842:21419748:21419893	21418744:21418842	ENSG00000053747.11	ENST00000399516.3,ENST00000313654.9
exon_skip_296096	18	21418744:21418842:21419748:21419893:21422358:21422454	21419748:21419893	ENSG00000053747.11	ENST00000399516.3,ENST00000313654.9
exon_skip_296097	18	21424972:21425088:21426260:21426472:21427427:21427632	21426260:21426472	ENSG00000053747.11	ENST00000399516.3,ENST00000313654.9
exon_skip_296100	18	21441609:21441771:21444748:21444847:21447797:21447881	21444748:21444847	ENSG00000053747.11	ENST00000399516.3,ENST00000313654.9
exon_skip_296101	18	21447797:21447881:21451394:21451625:21456257:21456371	21451394:21451625	ENSG00000053747.11	ENST00000399516.3,ENST00000313654.9
exon_skip_296102	18	21451394:21451625:21456257:21456371:21461899:21462009	21456257:21456371	ENSG00000053747.11	ENST00000399516.3,ENST00000313654.9
exon_skip_296103	18	21453008:21453179:21456257:21456371:21461899:21462009	21456257:21456371	ENSG00000053747.11	ENST00000269217.6,ENST00000587184.1
exon_skip_296104	18	21456257:21456371:21461899:21462009:21464736:21464817	21461899:21462009	ENSG00000053747.11	ENST00000399516.3,ENST00000313654.9,ENST00000269217.6,ENST00000587184.1
exon_skip_296105	18	21478917:21479029:21479251:21479419:21481090:21481287	21479251:21479419	ENSG00000053747.11	ENST00000586751.1,ENST00000313654.9,ENST00000269217.6,ENST00000588770.1
exon_skip_296106	18	21479251:21479419:21481090:21481287:21482972:21483089	21481090:21481287	ENSG00000053747.11	ENST00000586751.1,ENST00000313654.9,ENST00000269217.6,ENST00000588770.1
exon_skip_296108	18	21487513:21487630:21487719:21487899:21489116:21489259	21487719:21487899	ENSG00000053747.11	ENST00000586751.1,ENST00000399516.3,ENST00000313654.9,ENST00000269217.6,ENST00000587184.1,ENST00000588770.1
exon_skip_296113	18	21519186:21519350:21523751:21523935:21526107:21526248	21523751:21523935	ENSG00000053747.11	ENST00000399516.3,ENST00000313654.9,ENST00000269217.6,ENST00000587184.1,ENST00000588770.1
exon_skip_296115	18	21523849:21523935:21526107:21526248:21529728:21529888	21526107:21526248	ENSG00000053747.11	ENST00000399516.3,ENST00000313654.9,ENST00000269217.6,ENST00000587184.1,ENST00000588770.1
exon_skip_296120	18	21529856:21529888:21529992:21530123:21531647:21531741	21529992:21530123	ENSG00000053747.11	ENST00000399516.3,ENST00000313654.9,ENST00000588004.1,ENST00000269217.6,ENST00000587184.1,ENST00000588770.1
exon_skip_296131	18	21529992:21530123:21531647:21531741:21532953:21533073	21531647:21531741	ENSG00000053747.11	ENST00000399516.3,ENST00000313654.9,ENST00000269217.6,ENST00000587184.1,ENST00000588770.1
exon_skip_296132	18	21529992:21530123:21531647:21531741:21534466:21534612	21531647:21531741	ENSG00000053747.11	ENST00000588004.1
exon_skip_296145	18	21531647:21531741:21532953:21533073:21534466:21534612	21532953:21533073	ENSG00000053747.11	ENST00000399516.3,ENST00000313654.9,ENST00000269217.6,ENST00000587184.1,ENST00000588770.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for LAMA3

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_296080	18	21269647:21269941:21293883:21294036:21327906:21328024	21293883:21294036	ENSG00000053747.11	ENST00000585600.1,ENST00000399516.3
exon_skip_296081	18	21333684:21333776:21338359:21338475:21343368:21343487	21338359:21338475	ENSG00000053747.11	ENST00000313654.9,ENST00000585600.1,ENST00000399516.3
exon_skip_296082	18	21353460:21353551:21355755:21355887:21357520:21357583	21355755:21355887	ENSG00000053747.11	ENST00000313654.9,ENST00000585600.1,ENST00000399516.3
exon_skip_296088	18	21363986:21364121:21390329:21390467:21393020:21393067	21390329:21390467	ENSG00000053747.11	ENST00000313654.9,ENST00000399516.3
exon_skip_296089	18	21394366:21394466:21395151:21395204:21395431:21395537	21395151:21395204	ENSG00000053747.11	ENST00000313654.9,ENST00000399516.3
exon_skip_296090	18	21395431:21395537:21396351:21396451:21399804:21399961	21396351:21396451	ENSG00000053747.11	ENST00000313654.9,ENST00000399516.3
exon_skip_296092	18	21407367:21407431:21413791:21413952:21416944:21417053	21413791:21413952	ENSG00000053747.11	ENST00000313654.9,ENST00000399516.3,ENST00000591749.1
exon_skip_296093	18	21416944:21417053:21418744:21418842:21419748:21419893	21418744:21418842	ENSG00000053747.11	ENST00000313654.9,ENST00000399516.3
exon_skip_296096	18	21418744:21418842:21419748:21419893:21422358:21422454	21419748:21419893	ENSG00000053747.11	ENST00000313654.9,ENST00000399516.3
exon_skip_296097	18	21424972:21425088:21426260:21426472:21427427:21427632	21426260:21426472	ENSG00000053747.11	ENST00000313654.9,ENST00000399516.3
exon_skip_296100	18	21441609:21441771:21444748:21444847:21447797:21447881	21444748:21444847	ENSG00000053747.11	ENST00000313654.9,ENST00000399516.3
exon_skip_296101	18	21447797:21447881:21451394:21451625:21456257:21456371	21451394:21451625	ENSG00000053747.11	ENST00000313654.9,ENST00000399516.3
exon_skip_296102	18	21451394:21451625:21456257:21456371:21461899:21462009	21456257:21456371	ENSG00000053747.11	ENST00000313654.9,ENST00000399516.3
exon_skip_296103	18	21453008:21453179:21456257:21456371:21461899:21462009	21456257:21456371	ENSG00000053747.11	ENST00000269217.6,ENST00000587184.1
exon_skip_296104	18	21456257:21456371:21461899:21462009:21464736:21464817	21461899:21462009	ENSG00000053747.11	ENST00000313654.9,ENST00000399516.3,ENST00000269217.6,ENST00000587184.1
exon_skip_296105	18	21478917:21479029:21479251:21479419:21481090:21481287	21479251:21479419	ENSG00000053747.11	ENST00000313654.9,ENST00000269217.6,ENST00000586751.1,ENST00000588770.1
exon_skip_296106	18	21479251:21479419:21481090:21481287:21482972:21483089	21481090:21481287	ENSG00000053747.11	ENST00000313654.9,ENST00000269217.6,ENST00000586751.1,ENST00000588770.1
exon_skip_296108	18	21487513:21487630:21487719:21487899:21489116:21489259	21487719:21487899	ENSG00000053747.11	ENST00000313654.9,ENST00000399516.3,ENST00000269217.6,ENST00000587184.1,ENST00000586751.1,ENST00000588770.1
exon_skip_296113	18	21519186:21519350:21523751:21523935:21526107:21526248	21523751:21523935	ENSG00000053747.11	ENST00000313654.9,ENST00000399516.3,ENST00000269217.6,ENST00000587184.1,ENST00000588770.1
exon_skip_296115	18	21523849:21523935:21526107:21526248:21529728:21529888	21526107:21526248	ENSG00000053747.11	ENST00000313654.9,ENST00000399516.3,ENST00000269217.6,ENST00000587184.1,ENST00000588770.1
exon_skip_296120	18	21529856:21529888:21529992:21530123:21531647:21531741	21529992:21530123	ENSG00000053747.11	ENST00000313654.9,ENST00000399516.3,ENST00000269217.6,ENST00000587184.1,ENST00000588770.1,ENST00000588004.1
exon_skip_296131	18	21529992:21530123:21531647:21531741:21532953:21533073	21531647:21531741	ENSG00000053747.11	ENST00000313654.9,ENST00000399516.3,ENST00000269217.6,ENST00000587184.1,ENST00000588770.1
exon_skip_296132	18	21529992:21530123:21531647:21531741:21534466:21534612	21531647:21531741	ENSG00000053747.11	ENST00000588004.1
exon_skip_296145	18	21531647:21531741:21532953:21533073:21534466:21534612	21532953:21533073	ENSG00000053747.11	ENST00000313654.9,ENST00000399516.3,ENST00000269217.6,ENST00000587184.1,ENST00000588770.1

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 LAMA3

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
ENST00000313654	21338359	21338475	Frame-shift
ENST00000313654	21395151	21395204	Frame-shift
ENST00000313654	21396351	21396451	Frame-shift
ENST00000313654	21413791	21413952	Frame-shift
ENST00000313654	21418744	21418842	Frame-shift
ENST00000313654	21419748	21419893	Frame-shift
ENST00000313654	21426260	21426472	Frame-shift
ENST00000313654	21461899	21462009	Frame-shift
ENST00000313654	21481090	21481287	Frame-shift
ENST00000313654	21523751	21523935	Frame-shift
ENST00000313654	21529992	21530123	Frame-shift
ENST00000313654	21531647	21531741	Frame-shift
ENST00000313654	21355755	21355887	In-frame
ENST00000313654	21357520	21357583	In-frame
ENST00000313654	21390329	21390467	In-frame
ENST00000313654	21444748	21444847	In-frame
ENST00000313654	21451394	21451625	In-frame
ENST00000313654	21456257	21456371	In-frame
ENST00000313654	21479251	21479419	In-frame
ENST00000313654	21487719	21487899	In-frame
ENST00000313654	21526107	21526248	In-frame
ENST00000313654	21532953	21533073	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
ENST00000313654	21338359	21338475	Frame-shift
ENST00000313654	21395151	21395204	Frame-shift
ENST00000313654	21396351	21396451	Frame-shift
ENST00000313654	21413791	21413952	Frame-shift
ENST00000313654	21418744	21418842	Frame-shift
ENST00000313654	21419748	21419893	Frame-shift
ENST00000313654	21426260	21426472	Frame-shift
ENST00000313654	21461899	21462009	Frame-shift
ENST00000313654	21481090	21481287	Frame-shift
ENST00000313654	21523751	21523935	Frame-shift
ENST00000313654	21529992	21530123	Frame-shift
ENST00000313654	21531647	21531741	Frame-shift
ENST00000313654	21355755	21355887	In-frame
ENST00000313654	21390329	21390467	In-frame
ENST00000313654	21444748	21444847	In-frame
ENST00000313654	21451394	21451625	In-frame
ENST00000313654	21456257	21456371	In-frame
ENST00000313654	21479251	21479419	In-frame
ENST00000313654	21487719	21487899	In-frame
ENST00000313654	21526107	21526248	In-frame
ENST00000313654	21532953	21533073	In-frame

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Infer the effects of exon skipping event on protein functional features for LAMA3

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
ENST00000313654	10678	3333	21355755	21355887	1515	1646	424	468
ENST00000313654	10678	3333	21357520	21357583	1647	1709	468	489
ENST00000313654	10678	3333	21390329	21390467	1845	1982	534	580
ENST00000313654	10678	3333	21444748	21444847	4826	4924	1528	1561
ENST00000313654	10678	3333	21451394	21451625	5009	5239	1589	1666
ENST00000313654	10678	3333	21456257	21456371	5240	5353	1666	1704
ENST00000313654	10678	3333	21479251	21479419	6078	6245	1945	2001
ENST00000313654	10678	3333	21487719	21487899	7077	7256	2278	2338
ENST00000313654	10678	3333	21526107	21526248	9452	9592	3070	3117
ENST00000313654	10678	3333	21532953	21533073	9978	10097	3245	3285

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
ENST00000313654	10678	3333	21355755	21355887	1515	1646	424	468
ENST00000313654	10678	3333	21390329	21390467	1845	1982	534	580
ENST00000313654	10678	3333	21444748	21444847	4826	4924	1528	1561
ENST00000313654	10678	3333	21451394	21451625	5009	5239	1589	1666
ENST00000313654	10678	3333	21456257	21456371	5240	5353	1666	1704
ENST00000313654	10678	3333	21479251	21479419	6078	6245	1945	2001
ENST00000313654	10678	3333	21487719	21487899	7077	7256	2278	2338
ENST00000313654	10678	3333	21526107	21526248	9452	9592	3070	3117
ENST00000313654	10678	3333	21532953	21533073	9978	10097	3245	3285

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

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

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SNVs in the skipped exons for LAMA3

- 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
LUAD	TCGA-69-7973-01	exon_skip_296080	21293884	21294036	21294017	21294017	Frame_Shift_Del	T	-	p.L143fs
LIHC	TCGA-DD-A1EG-01	exon_skip_296096	21419749	21419893	21419796	21419796	Frame_Shift_Del	T	-	p.I1080fs
LIHC	TCGA-DD-A3A0-01	exon_skip_296096	21419749	21419893	21419796	21419796	Frame_Shift_Del	T	-	p.I1080fs
BRCA	TCGA-AR-A0TY-01	exon_skip_296097	21426261	21426472	21426463	21426463	Frame_Shift_Del	C	-	p.R1308fs
COAD	TCGA-G4-6588-01	exon_skip_296101	21451395	21451625	21451595	21451595	Frame_Shift_Del	C	-	p.C1656fs
STAD	TCGA-HU-A4H8-01	exon_skip_296101	21451395	21451625	21451595	21451595	Frame_Shift_Del	C	-	p.C1656fs
COAD	TCGA-CM-6171-01	exon_skip_296106	21481091	21481287	21481128	21481128	Frame_Shift_Del	G	-	p.Q349fs
LIHC	TCGA-DD-A1EG-01	exon_skip_296108	21487720	21487899	21487748	21487748	Frame_Shift_Del	A	-	p.A2288fs
LIHC	TCGA-DD-A3A0-01	exon_skip_296108	21487720	21487899	21487869	21487869	Frame_Shift_Del	A	-	p.K2330fs
LIHC	TCGA-DD-A1EG-01	exon_skip_296115	21526108	21526248	21526126	21526126	Frame_Shift_Del	G	-	p.G3077fs
LIHC	TCGA-DD-A39Y-01	exon_skip_296131 exon_skip_296132	21531648	21531741	21531662	21531662	Frame_Shift_Del	G	-	p.M3219fs
LIHC	TCGA-DD-A3A0-01	exon_skip_296131 exon_skip_296132	21531648	21531741	21531701	21531701	Frame_Shift_Del	A	-	p.P3232fs
LIHC	TCGA-DD-A1EG-01	exon_skip_296145	21532954	21533073	21533021	21533021	Frame_Shift_Del	C	-	p.I3268fs
STAD	TCGA-CG-5723-01	exon_skip_296081	21338360	21338475	21338390	21338391	Frame_Shift_Ins	-	G	p.C326fs
STAD	TCGA-CG-5723-01	exon_skip_296081	21338360	21338475	21338391	21338392	Frame_Shift_Ins	-	G	p.C326fs
PAAD	TCGA-IB-7651-01	exon_skip_296100	21444749	21444847	21444821	21444822	Frame_Shift_Ins	-	A	p.E1553fs
PAAD	TCGA-IB-7651-01	exon_skip_296100	21444749	21444847	21444821	21444822	Frame_Shift_Ins	-	A	p.K1553fs
UCEC	TCGA-B5-A11E-01	exon_skip_296089	21395152	21395204	21395184	21395184	Nonsense_Mutation	G	T	p.G641*
LUAD	TCGA-NJ-A4YP-01	exon_skip_296105	21479252	21479419	21479329	21479329	Nonsense_Mutation	G	T	p.E1972*
READ	TCGA-AG-A002-01	exon_skip_296106	21481091	21481287	21481258	21481258	Nonsense_Mutation	G	T	p.E393X
SKCM	TCGA-FS-A4F2-06	exon_skip_296113	21523752	21523935	21523928	21523928	Nonsense_Mutation	G	A	p.W3068*
LUSC	TCGA-18-3421-01	exon_skip_296131 exon_skip_296132	21531648	21531741	21531685	21531685	Nonsense_Mutation	C	A	p.S3227*
STAD	TCGA-CD-8535-01	exon_skip_296084	21357521	21357583	21357584	21357584	Splice_Site	G	T	p.G490_splice
BRCA	TCGA-BH-A0HA-01	exon_skip_296096	21419749	21419893	21419894	21419894	Splice_Site	G	T	e27+1
THYM	TCGA-X7-A8M1-01	exon_skip_296103 exon_skip_296102	21456258	21456371	21456257	21456257	Splice_Site	G	T	.
BRCA	TCGA-AR-A0TU-01	exon_skip_296106	21481091	21481287	21481288	21481288	Splice_Site	G	T	e48+1
SKCM	TCGA-DA-A1I0-06	exon_skip_296115	21526108	21526248	21526249	21526249	Splice_Site	G	A	.

- 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
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21390330	21390467	21390454	21390454	Frame_Shift_Del	C	-	p.F576fs
IGROV1_OVARY	21456258	21456371	21456295	21456306	In_Frame_Del	TGTATACCGGAC	-	p.1679_1683LYTGR>W
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21413792	21413952	21413885	21413886	In_Frame_Ins	-	TTA	p.973_973D>VN
SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21338360	21338475	21338470	21338470	Missense_Mutation	G	A	p.C353Y
KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21355756	21355887	21355804	21355804	Missense_Mutation	G	A	p.G441D
K029AX_SKIN	21357521	21357583	21357535	21357535	Missense_Mutation	C	T	p.P474S
ASH3_THYROID	21390330	21390467	21390429	21390429	Missense_Mutation	G	A	p.R568K
22RV1_PROSTATE	21413792	21413952	21413865	21413865	Missense_Mutation	C	T	p.A966V
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21413792	21413952	21413918	21413918	Missense_Mutation	G	A	p.A984T
L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21418745	21418842	21418776	21418776	Missense_Mutation	T	C	p.F1042S
COLO320_LARGE_INTESTINE	21419749	21419893	21419829	21419829	Missense_Mutation	A	C	p.H1091P
LS513_LARGE_INTESTINE	21419749	21419893	21419829	21419829	Missense_Mutation	A	C	p.H1091P
LCLC97TM1_LUNG	21419749	21419893	21419856	21419856	Missense_Mutation	T	G	p.V1100G
MERO48A_LUNG	21419749	21419893	21419889	21419889	Missense_Mutation	C	T	p.P1111L
MFE319_ENDOMETRIUM	21426261	21426472	21426305	21426305	Missense_Mutation	T	C	p.L1255P
MET2B	21426261	21426472	21426328	21426328	Missense_Mutation	G	A	p.A1263T
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	21426261	21426472	21426371	21426371	Missense_Mutation	A	G	p.H1277R
A388_SKIN	21426261	21426472	21426385	21426385	Missense_Mutation	G	A	p.G1282S
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21426261	21426472	21426433	21426433	Missense_Mutation	C	T	p.R1298C
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	21426261	21426472	21426451	21426451	Missense_Mutation	T	C	p.Y1304H
SNU1040_LARGE_INTESTINE	21444749	21444847	21444801	21444801	Missense_Mutation	C	T	p.P1546L
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21444749	21444847	21444834	21444834	Missense_Mutation	A	G	p.D1557G
SNU1_STOMACH	21451395	21451625	21451432	21451432	Missense_Mutation	C	A	p.S1602Y
SW1463_LARGE_INTESTINE	21451395	21451625	21451539	21451539	Missense_Mutation	G	A	p.E1638K
HCC1569_BREAST	21451395	21451625	21451573	21451573	Missense_Mutation	T	C	p.L1649P
JHH4_LIVER	21456258	21456371	21456270	21456270	Missense_Mutation	G	A	p.G1671R
PC3_PROSTATE	21456258	21456371	21456307	21456307	Missense_Mutation	G	A	p.R1683Q
PC3JPC3_LUNG	21456258	21456371	21456307	21456307	Missense_Mutation	G	A	p.R1683Q
LOVO_LARGE_INTESTINE	21456258	21456371	21456325	21456325	Missense_Mutation	G	A	p.C1689Y
HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21456258	21456371	21456334	21456334	Missense_Mutation	A	G	p.H1692R
NCIH1568_LUNG	21461900	21462009	21461937	21461937	Missense_Mutation	G	A	p.R1717H
HEC59_ENDOMETRIUM	21461900	21462009	21462000	21462000	Missense_Mutation	A	T	p.H1738L
SNU886_LIVER	21481091	21481287	21481103	21481103	Missense_Mutation	T	G	p.I2006R
CAL148_BREAST	21487720	21487899	21487751	21487751	Missense_Mutation	G	C	p.K2289N
UBLC1_URINARY_TRACT	21487720	21487899	21487773	21487773	Missense_Mutation	G	A	p.D2297N
HCC2998_LARGE_INTESTINE	21487720	21487899	21487828	21487828	Missense_Mutation	G	T	p.R2315I
HS172T_FIBROBLAST	21487720	21487899	21487835	21487835	Missense_Mutation	G	C	p.K2317N
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21523752	21523935	21523852	21523852	Missense_Mutation	C	T	p.R3043C
HEC251_ENDOMETRIUM	21523752	21523935	21523933	21523933	Missense_Mutation	A	G	p.T3070A
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21526108	21526248	21526151	21526151	Missense_Mutation	A	G	p.D3085G
TE1_OESOPHAGUS	21526108	21526248	21526208	21526208	Missense_Mutation	C	G	p.A3104G
HO1N1_UPPER_AERODIGESTIVE_TRACT	21526108	21526248	21526208	21526208	Missense_Mutation	C	G	p.A3104G
RPMI7951_SKIN	21529993	21530123	21530010	21530010	Missense_Mutation	G	A	p.G3177R
BT474_BREAST	21529993	21530123	21530041	21530041	Missense_Mutation	G	A	p.R3187H
HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21529993	21530123	21530073	21530073	Missense_Mutation	A	G	p.I3198V
MM127_SKIN	21532954	21533073	21532957	21532957	Missense_Mutation	C	T	p.T3247I
MPP89_PLEURA	21532954	21533073	21532961	21532961	Missense_Mutation	A	G	p.I3248M
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21532954	21533073	21533005	21533005	Missense_Mutation	A	G	p.Y3263C
U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21532954	21533073	21533027	21533028	Missense_Mutation	CC	TT	p.P3271S
CP67MEL_SKIN	21390330	21390467	21390370	21390370	Nonsense_Mutation	C	A	p.C548*
SW1783_CENTRAL_NERVOUS_SYSTEM	21396352	21396451	21396420	21396420	Nonsense_Mutation	C	T	p.R706*
MCC142_SKIN	21481091	21481287	21481113	21481113	Nonsense_Mutation	G	A	p.W2009*
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21532954	21533073	21533016	21533016	Nonsense_Mutation	C	T	p.Q3267*
SNUC5_LARGE_INTESTINE	21355756	21355887	21355756	21355756	Splice_Site	C	T	p.P425L
LOVO_LARGE_INTESTINE	21396352	21396451	21396352	21396352	Splice_Site	G	A	p.G683E
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21426261	21426472	21426471	21426471	Splice_Site	G	A	p.K1310K

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LAMA3

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 LAMA3

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LAMA3

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RelatedDrugs for LAMA3

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 LAMA3

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
LAMA3	C0027339	Nail Diseases	1	CTD_human
LAMA3	C0037299	Skin Ulcer	1	CTD_human;HPO
LAMA3	C0079301	Junctional Epidermolysis Bullosa	1	CTD_human
LAMA3	C1328355	Laryngoonychocutaneous syndrome	1	CTD_human;ORPHANET

	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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