ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for LRP1

Gene summary

Gene information	Gene symbol	LRP1
	Gene ID	4035
	Gene name	LDL receptor related protein 1
	Synonyms	A2MR\|APOER\|APR\|CD91\|IGFBP-3R\|IGFBP3R\|IGFBP3R1\|KPA\|LRP\|LRP1A\|TGFBR5
	Cytomap	12q13.3
	Type of gene	protein-coding
	Description	prolow-density lipoprotein receptor-related protein 1TbetaR-V/LRP-1/IGFBP-3 receptoralpha-2-macroglobulin receptorapolipoprotein E receptorlow density lipoprotein receptor-related protein 1type V tgf-beta receptor
	Modification date	20180522
	UniProtAcc	Q07954
	Context	PubMed: LRP1 [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 LRP1 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 LRP1

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 LRP1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_84386	12	57550559:57550703:57552184:57552421:57553607:57553788	57552184:57552421	ENSG00000123384.9	ENST00000243077.3
exon_skip_84387	12	57561227:57561307:57561967:57562018:57562922:57563083	57561967:57562018	ENSG00000123384.9	ENST00000553446.1
exon_skip_84388	12	57566950:57567133:57567562:57567763:57569242:57569488	57567562:57567763	ENSG00000123384.9	ENST00000243077.3
exon_skip_84389	12	57577557:57577692:57577867:57577997:57578108:57578235	57577867:57577997	ENSG00000123384.9	ENST00000243077.3
exon_skip_84394	12	57584587:57584792:57585102:57585295:57586627:57586752	57585102:57585295	ENSG00000123384.9	ENST00000243077.3
exon_skip_84397	12	57587681:57587795:57588136:57588286:57588359:57588482	57588136:57588286	ENSG00000123384.9	ENST00000243077.3
exon_skip_84398	12	57591327:57591447:57591938:57592126:57592247:57592453	57591938:57592126	ENSG00000123384.9	ENST00000243077.3
exon_skip_84399	12	57594481:57594598:57594816:57594936:57595279:57595402	57594816:57594936	ENSG00000123384.9	ENST00000243077.3
exon_skip_84403	12	57603474:57603651:57603811:57603952:57604089:57604263	57603811:57603952	ENSG00000123384.9	ENST00000243077.3,ENST00000556356.1
exon_skip_84404	12	57603811:57603952:57604089:57604263:57604500:57604662	57604089:57604263	ENSG00000123384.9	ENST00000243077.3,ENST00000556356.1
exon_skip_84407	12	57604958:57605133:57605269:57605371:57605532:57605597	57605269:57605371	ENSG00000123384.9	ENST00000243077.3,ENST00000556356.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for LRP1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_84386	12	57550559:57550703:57552184:57552421:57553607:57553788	57552184:57552421	ENSG00000123384.9	ENST00000243077.3
exon_skip_84387	12	57561227:57561307:57561967:57562018:57562922:57563083	57561967:57562018	ENSG00000123384.9	ENST00000553446.1
exon_skip_84388	12	57566950:57567133:57567562:57567763:57569242:57569488	57567562:57567763	ENSG00000123384.9	ENST00000243077.3
exon_skip_84389	12	57577557:57577692:57577867:57577997:57578108:57578235	57577867:57577997	ENSG00000123384.9	ENST00000243077.3
exon_skip_84394	12	57584587:57584792:57585102:57585295:57586627:57586752	57585102:57585295	ENSG00000123384.9	ENST00000243077.3
exon_skip_84397	12	57587681:57587795:57588136:57588286:57588359:57588482	57588136:57588286	ENSG00000123384.9	ENST00000243077.3
exon_skip_84398	12	57591327:57591447:57591938:57592126:57592247:57592453	57591938:57592126	ENSG00000123384.9	ENST00000243077.3
exon_skip_84399	12	57594481:57594598:57594816:57594936:57595279:57595402	57594816:57594936	ENSG00000123384.9	ENST00000243077.3
exon_skip_84403	12	57603474:57603651:57603811:57603952:57604089:57604263	57603811:57603952	ENSG00000123384.9	ENST00000243077.3,ENST00000556356.1
exon_skip_84404	12	57603811:57603952:57604089:57604263:57604500:57604662	57604089:57604263	ENSG00000123384.9	ENST00000243077.3,ENST00000556356.1
exon_skip_84407	12	57604958:57605133:57605269:57605371:57605532:57605597	57605269:57605371	ENSG00000123384.9	ENST00000243077.3,ENST00000556356.1

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 LRP1

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
ENST00000243077	57577867	57577997	Frame-shift
ENST00000243077	57585102	57585295	Frame-shift
ENST00000243077	57591938	57592126	Frame-shift
ENST00000243077	57552184	57552421	In-frame
ENST00000243077	57567562	57567763	In-frame
ENST00000243077	57588136	57588286	In-frame
ENST00000243077	57594816	57594936	In-frame
ENST00000243077	57603811	57603952	In-frame
ENST00000243077	57604089	57604263	In-frame
ENST00000243077	57605269	57605371	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
ENST00000243077	57577867	57577997	Frame-shift
ENST00000243077	57585102	57585295	Frame-shift
ENST00000243077	57591938	57592126	Frame-shift
ENST00000243077	57552184	57552421	In-frame
ENST00000243077	57567562	57567763	In-frame
ENST00000243077	57588136	57588286	In-frame
ENST00000243077	57594816	57594936	In-frame
ENST00000243077	57603811	57603952	In-frame
ENST00000243077	57604089	57604263	In-frame
ENST00000243077	57605269	57605371	In-frame

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Infer the effects of exon skipping event on protein functional features for LRP1

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
ENST00000243077	14914	4544	57552184	57552421	2028	2264	520	599
ENST00000243077	14914	4544	57567562	57567763	3813	4013	1115	1182
ENST00000243077	14914	4544	57588136	57588286	8385	8534	2639	2689
ENST00000243077	14914	4544	57594816	57594936	10692	10811	3408	3448
ENST00000243077	14914	4544	57603811	57603952	12906	13046	4146	4193
ENST00000243077	14914	4544	57604089	57604263	13047	13220	4193	4251
ENST00000243077	14914	4544	57605269	57605371	13558	13659	4364	4397

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
ENST00000243077	14914	4544	57552184	57552421	2028	2264	520	599
ENST00000243077	14914	4544	57567562	57567763	3813	4013	1115	1182
ENST00000243077	14914	4544	57588136	57588286	8385	8534	2639	2689
ENST00000243077	14914	4544	57594816	57594936	10692	10811	3408	3448
ENST00000243077	14914	4544	57603811	57603952	12906	13046	4146	4193
ENST00000243077	14914	4544	57604089	57604263	13047	13220	4193	4251
ENST00000243077	14914	4544	57605269	57605371	13558	13659	4364	4397

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
Q07954	520	599	293	4544	Alternative sequence	ID=VSP_056920;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q07954	520	599	20	4544	Chain	ID=PRO_0000017317;Note=Prolow-density lipoprotein receptor-related protein 1
Q07954	520	599	20	3943	Chain	ID=PRO_0000302750;Note=Low-density lipoprotein receptor-related protein 1 515 kDa subunit
Q07954	520	599	474	520	Domain	Note=EGF-like 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q07954	520	599	571	613	Repeat	Note=LDL-receptor class B 4
Q07954	520	599	20	4419	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q07954	1115	1182	293	4544	Alternative sequence	ID=VSP_056920;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q07954	1115	1182	20	4544	Chain	ID=PRO_0000017317;Note=Prolow-density lipoprotein receptor-related protein 1
Q07954	1115	1182	20	3943	Chain	ID=PRO_0000302750;Note=Low-density lipoprotein receptor-related protein 1 515 kDa subunit
Q07954	1115	1182	1104	1118	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	1115	1182	1112	1131	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	1115	1182	1125	1140	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	1115	1182	1145	1159	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	1115	1182	1152	1172	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	1115	1182	1166	1182	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	1115	1182	1102	1142	Domain	Note=LDL-receptor class A 9;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
Q07954	1115	1182	1143	1182	Domain	Note=LDL-receptor class A 10;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
Q07954	1115	1182	1154	1154	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q07954	1115	1182	1155	1155	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q07954	1115	1182	20	4419	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q07954	2639	2689	293	4544	Alternative sequence	ID=VSP_056920;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q07954	2639	2689	20	4544	Chain	ID=PRO_0000017317;Note=Prolow-density lipoprotein receptor-related protein 1
Q07954	2639	2689	20	3943	Chain	ID=PRO_0000302750;Note=Low-density lipoprotein receptor-related protein 1 515 kDa subunit
Q07954	2639	2689	2624	2639	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	2639	2689	2644	2666	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	2639	2689	2660	2679	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	2639	2689	2673	2688	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	2639	2689	2603	2641	Domain	Note=LDL-receptor class A 13;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
Q07954	2639	2689	2642	2690	Domain	Note=LDL-receptor class A 14;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
Q07954	2639	2689	20	4419	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q07954	3408	3448	293	4544	Alternative sequence	ID=VSP_056920;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q07954	3408	3448	20	4544	Chain	ID=PRO_0000017317;Note=Prolow-density lipoprotein receptor-related protein 1
Q07954	3408	3448	20	3943	Chain	ID=PRO_0000302750;Note=Low-density lipoprotein receptor-related protein 1 515 kDa subunit
Q07954	3408	3448	3393	3408	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	3408	3448	3413	3426	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	3408	3448	3420	3439	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	3408	3448	3433	3448	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	3408	3448	3372	3410	Domain	Note=LDL-receptor class A 22;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
Q07954	3408	3448	3411	3450	Domain	Note=LDL-receptor class A 23;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
Q07954	3408	3448	20	4419	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q07954	4146	4193	293	4544	Alternative sequence	ID=VSP_056920;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q07954	4146	4193	20	4544	Chain	ID=PRO_0000017317;Note=Prolow-density lipoprotein receptor-related protein 1
Q07954	4146	4193	3944	4544	Chain	ID=PRO_0000302751;Note=Low-density lipoprotein receptor-related protein 1 85 kDa subunit
Q07954	4146	4193	4151	4160	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	4146	4193	4156	4169	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	4146	4193	4171	4182	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	4146	4193	4147	4183	Domain	Note=EGF-like 16;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q07954	4146	4193	4179	4179	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q07954	4146	4193	20	4419	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q07954	4193	4251	293	4544	Alternative sequence	ID=VSP_056920;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q07954	4193	4251	20	4544	Chain	ID=PRO_0000017317;Note=Prolow-density lipoprotein receptor-related protein 1
Q07954	4193	4251	3944	4544	Chain	ID=PRO_0000302751;Note=Low-density lipoprotein receptor-related protein 1 85 kDa subunit
Q07954	4193	4251	4200	4210	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	4193	4251	4204	4220	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	4193	4251	4222	4231	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	4193	4251	4236	4246	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	4193	4251	4240	4256	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	4193	4251	4196	4232	Domain	Note=EGF-like 17;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q07954	4193	4251	4232	4268	Domain	Note=EGF-like 18;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q07954	4193	4251	20	4419	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q07954	4364	4397	293	4544	Alternative sequence	ID=VSP_056920;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q07954	4364	4397	20	4544	Chain	ID=PRO_0000017317;Note=Prolow-density lipoprotein receptor-related protein 1
Q07954	4364	4397	3944	4544	Chain	ID=PRO_0000302751;Note=Low-density lipoprotein receptor-related protein 1 85 kDa subunit
Q07954	4364	4397	4365	4374	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	4364	4397	4377	4387	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	4364	4397	4381	4397	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	4364	4397	4340	4375	Domain	Note=EGF-like 21;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q07954	4364	4397	4373	4409	Domain	Note=EGF-like 22;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q07954	4364	4397	4364	4364	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q07954	4364	4397	20	4419	Topological domain	Note=Extracellular;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
Q07954	520	599	293	4544	Alternative sequence	ID=VSP_056920;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q07954	520	599	20	4544	Chain	ID=PRO_0000017317;Note=Prolow-density lipoprotein receptor-related protein 1
Q07954	520	599	20	3943	Chain	ID=PRO_0000302750;Note=Low-density lipoprotein receptor-related protein 1 515 kDa subunit
Q07954	520	599	474	520	Domain	Note=EGF-like 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q07954	520	599	571	613	Repeat	Note=LDL-receptor class B 4
Q07954	520	599	20	4419	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q07954	1115	1182	293	4544	Alternative sequence	ID=VSP_056920;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q07954	1115	1182	20	4544	Chain	ID=PRO_0000017317;Note=Prolow-density lipoprotein receptor-related protein 1
Q07954	1115	1182	20	3943	Chain	ID=PRO_0000302750;Note=Low-density lipoprotein receptor-related protein 1 515 kDa subunit
Q07954	1115	1182	1104	1118	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	1115	1182	1112	1131	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	1115	1182	1125	1140	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	1115	1182	1145	1159	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	1115	1182	1152	1172	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	1115	1182	1166	1182	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	1115	1182	1102	1142	Domain	Note=LDL-receptor class A 9;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
Q07954	1115	1182	1143	1182	Domain	Note=LDL-receptor class A 10;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
Q07954	1115	1182	1154	1154	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q07954	1115	1182	1155	1155	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q07954	1115	1182	20	4419	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q07954	2639	2689	293	4544	Alternative sequence	ID=VSP_056920;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q07954	2639	2689	20	4544	Chain	ID=PRO_0000017317;Note=Prolow-density lipoprotein receptor-related protein 1
Q07954	2639	2689	20	3943	Chain	ID=PRO_0000302750;Note=Low-density lipoprotein receptor-related protein 1 515 kDa subunit
Q07954	2639	2689	2624	2639	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	2639	2689	2644	2666	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	2639	2689	2660	2679	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	2639	2689	2673	2688	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	2639	2689	2603	2641	Domain	Note=LDL-receptor class A 13;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
Q07954	2639	2689	2642	2690	Domain	Note=LDL-receptor class A 14;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
Q07954	2639	2689	20	4419	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q07954	3408	3448	293	4544	Alternative sequence	ID=VSP_056920;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q07954	3408	3448	20	4544	Chain	ID=PRO_0000017317;Note=Prolow-density lipoprotein receptor-related protein 1
Q07954	3408	3448	20	3943	Chain	ID=PRO_0000302750;Note=Low-density lipoprotein receptor-related protein 1 515 kDa subunit
Q07954	3408	3448	3393	3408	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	3408	3448	3413	3426	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	3408	3448	3420	3439	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	3408	3448	3433	3448	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	3408	3448	3372	3410	Domain	Note=LDL-receptor class A 22;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
Q07954	3408	3448	3411	3450	Domain	Note=LDL-receptor class A 23;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
Q07954	3408	3448	20	4419	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q07954	4146	4193	293	4544	Alternative sequence	ID=VSP_056920;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q07954	4146	4193	20	4544	Chain	ID=PRO_0000017317;Note=Prolow-density lipoprotein receptor-related protein 1
Q07954	4146	4193	3944	4544	Chain	ID=PRO_0000302751;Note=Low-density lipoprotein receptor-related protein 1 85 kDa subunit
Q07954	4146	4193	4151	4160	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	4146	4193	4156	4169	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	4146	4193	4171	4182	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	4146	4193	4147	4183	Domain	Note=EGF-like 16;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q07954	4146	4193	4179	4179	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q07954	4146	4193	20	4419	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q07954	4193	4251	293	4544	Alternative sequence	ID=VSP_056920;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q07954	4193	4251	20	4544	Chain	ID=PRO_0000017317;Note=Prolow-density lipoprotein receptor-related protein 1
Q07954	4193	4251	3944	4544	Chain	ID=PRO_0000302751;Note=Low-density lipoprotein receptor-related protein 1 85 kDa subunit
Q07954	4193	4251	4200	4210	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	4193	4251	4204	4220	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	4193	4251	4222	4231	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	4193	4251	4236	4246	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	4193	4251	4240	4256	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	4193	4251	4196	4232	Domain	Note=EGF-like 17;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q07954	4193	4251	4232	4268	Domain	Note=EGF-like 18;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q07954	4193	4251	20	4419	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q07954	4364	4397	293	4544	Alternative sequence	ID=VSP_056920;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q07954	4364	4397	20	4544	Chain	ID=PRO_0000017317;Note=Prolow-density lipoprotein receptor-related protein 1
Q07954	4364	4397	3944	4544	Chain	ID=PRO_0000302751;Note=Low-density lipoprotein receptor-related protein 1 85 kDa subunit
Q07954	4364	4397	4365	4374	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	4364	4397	4377	4387	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	4364	4397	4381	4397	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q07954	4364	4397	4340	4375	Domain	Note=EGF-like 21;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q07954	4364	4397	4373	4409	Domain	Note=EGF-like 22;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q07954	4364	4397	4364	4364	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q07954	4364	4397	20	4419	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for LRP1

- 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.

LRP1_HNSC_exon_skip_84399_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_84388	57567563	57567763	57567595	57567595	Frame_Shift_Del	G	-	p.G1127fs
SARC	TCGA-DX-AB2G-01	exon_skip_84397	57588137	57588286	57588165	57588165	Frame_Shift_Del	C	-	p.R2649fs
LIHC	TCGA-DD-A1EG-01	exon_skip_84404	57604090	57604263	57604236	57604236	Frame_Shift_Del	G	-	p.G4244fs
COAD	TCGA-A6-6781-01	exon_skip_84403	57603812	57603952	57603939	57603940	Frame_Shift_Ins	-	C	p.T4189fs
ESCA	TCGA-L5-A43J-01	exon_skip_84403	57603812	57603952	57603939	57603940	Frame_Shift_Ins	-	C	p.D4192fs
ESCA	TCGA-L5-A43J-01	exon_skip_84403	57603812	57603952	57603939	57603940	Frame_Shift_Ins	-	C	p.T4189fs
STAD	TCGA-R5-A7ZI-01	exon_skip_84403	57603812	57603952	57603939	57603940	Frame_Shift_Ins	-	C	p.T4189fs
UCS	TCGA-N7-A4Y0-01	exon_skip_84403	57603812	57603952	57603939	57603940	Frame_Shift_Ins	-	C	p.TP4189fs
STAD	TCGA-HU-A4GX-01	exon_skip_84403	57603812	57603952	57603940	57603941	Frame_Shift_Ins	-	C	p.T4189fs
LIHC	TCGA-BC-A112-01	exon_skip_84404	57604090	57604263	57604254	57604255	Frame_Shift_Ins	-	C	p.P4249fs
COAD	TCGA-CM-5341-01	exon_skip_84399	57594817	57594936	57594937	57594937	Splice_Site	G	A	.
HNSC	TCGA-CV-6948-01	exon_skip_84399	57594817	57594936	57594938	57594938	Splice_Site	T	C	p.P3449_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-CV-6948-01
	Cancer type: HNSC
	ESID: exon_skip_84399
	Skipped exon start: 57594817
	Skipped exon end: 57594936
	Mutation start: 57594938
	Mutation end: 57594938
	Mutation type: Splice_Site
	Reference seq: T
	Mutation seq: C
	AAchange: p.P3449_splice
exon_skip_84399_HNSC_TCGA-CV-6948-01.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
SNGM_ENDOMETRIUM	57603812	57603952	57603940	57603940	Frame_Shift_Del	C	-	p.P4192fs
GP2D_LARGE_INTESTINE	57603812	57603952	57603940	57603940	Frame_Shift_Del	C	-	p.P4192fs
RL952_ENDOMETRIUM	57603812	57603952	57603940	57603940	Frame_Shift_Del	C	-	p.P4192fs
SKUT1_SOFT_TISSUE	57603812	57603952	57603940	57603940	Frame_Shift_Del	C	-	p.P4192fs
SNU407_LARGE_INTESTINE	57603812	57603952	57603940	57603940	Frame_Shift_Del	C	-	p.P4192fs
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57603812	57603952	57603940	57603940	Frame_Shift_Del	C	-	p.P4192fs
CW2_LARGE_INTESTINE	57603812	57603952	57603940	57603940	Frame_Shift_Del	C	-	p.P4192fs
GP5D_LARGE_INTESTINE	57603812	57603952	57603940	57603940	Frame_Shift_Del	C	-	p.P4192fs
LIM1215_LARGE_INTESTINE	57603812	57603952	57603940	57603940	Frame_Shift_Del	C	-	p.P4192fs
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57603812	57603952	57603940	57603940	Frame_Shift_Del	C	-	p.P4192fs
HCT116_LARGE_INTESTINE	57567563	57567763	57567696	57567697	Frame_Shift_Ins	-	C	p.P1161fs
CW2_LARGE_INTESTINE	57567563	57567763	57567696	57567697	Frame_Shift_Ins	-	C	p.P1161fs
HCT15_LARGE_INTESTINE	57552185	57552421	57552211	57552211	Missense_Mutation	T	C	p.Y530H
HRT18_LARGE_INTESTINE	57552185	57552421	57552211	57552211	Missense_Mutation	T	C	p.Y530H
HEC1_ENDOMETRIUM	57552185	57552421	57552321	57552321	Missense_Mutation	C	A	p.F566L
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57552185	57552421	57552326	57552326	Missense_Mutation	C	A	p.A568D
HCT116_LARGE_INTESTINE	57552185	57552421	57552403	57552403	Missense_Mutation	G	C	p.E594Q
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57567563	57567763	57567670	57567670	Missense_Mutation	T	C	p.C1152R
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57567563	57567763	57567676	57567676	Missense_Mutation	A	G	p.N1154D
TE11_OESOPHAGUS	57567563	57567763	57567745	57567745	Missense_Mutation	G	C	p.D1177H
SNU1040_LARGE_INTESTINE	57577868	57577997	57577912	57577912	Missense_Mutation	G	A	p.A1992T
LNCAPCLONEFGC_PROSTATE	57585103	57585295	57585160	57585160	Missense_Mutation	A	G	p.I2432V
SKPNDW_BONE	57585103	57585295	57585225	57585225	Missense_Mutation	G	A	p.M2453I
SNU1040_LARGE_INTESTINE	57585103	57585295	57585235	57585235	Missense_Mutation	C	T	p.R2457C
SNU1040_LARGE_INTESTINE	57585103	57585295	57585257	57585257	Missense_Mutation	C	A	p.P2464H
NCIH345_LUNG	57588137	57588286	57588203	57588203	Missense_Mutation	G	T	p.R2662L
SNU1040_LARGE_INTESTINE	57588137	57588286	57588224	57588224	Missense_Mutation	C	T	p.P2669L
COV434_OVARY	57588137	57588286	57588244	57588244	Missense_Mutation	G	A	p.A2676T
SW780_URINARY_TRACT	57588137	57588286	57588257	57588257	Missense_Mutation	G	A	p.G2680E
GP2D_LARGE_INTESTINE	57588137	57588286	57588269	57588269	Missense_Mutation	A	G	p.D2684G
JVM3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57603812	57603952	57603829	57603829	Missense_Mutation	C	T	p.R4153C
SNUC2A_LARGE_INTESTINE	57603812	57603952	57603830	57603830	Missense_Mutation	G	A	p.R4153H
SNUC2B_LARGE_INTESTINE	57603812	57603952	57603830	57603830	Missense_Mutation	G	A	p.R4153H
A2780_OVARY	57603812	57603952	57603940	57603940	Missense_Mutation	C	T	p.P4190S
KARPAS422_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57604090	57604263	57604114	57604114	Missense_Mutation	T	C	p.L4202P
KARPAS422_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57604090	57604263	57604122	57604122	Missense_Mutation	T	C	p.F4205L
AGS_STOMACH	57604090	57604263	57604173	57604173	Missense_Mutation	T	A	p.C4222S
SNUC2A_LARGE_INTESTINE	57604090	57604263	57604189	57604189	Missense_Mutation	C	T	p.T4227M
SNUC2B_LARGE_INTESTINE	57604090	57604263	57604189	57604189	Missense_Mutation	C	T	p.T4227M
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57604090	57604263	57604231	57604231	Missense_Mutation	G	A	p.R4241H
DU145_PROSTATE	57604090	57604263	57604261	57604261	Missense_Mutation	C	T	p.S4251F
VMRCRCZ_KIDNEY	57604090	57604263	57604261	57604261	Missense_Mutation	C	G	p.S4251C
MFE319_ENDOMETRIUM	57605270	57605371	57605335	57605335	Missense_Mutation	C	T	p.S4386F
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57605270	57605371	57605356	57605356	Missense_Mutation	T	C	p.M4393T
SW48_LARGE_INTESTINE	57605270	57605371	57605360	57605360	Missense_Mutation	G	A	p.M4394I
BICR18_UPPER_AERODIGESTIVE_TRACT	57552185	57552421	57552420	57552420	Splice_Site	C	T	p.D599D

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LRP1

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 LRP1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LRP1

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RelatedDrugs for LRP1

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
	Q07954	DB00031	Tenecteplase	Prolow-density lipoprotein receptor-related protein 1	biotech	approved
	Q07954	DB00025	Antihemophilic factor, human recombinant	Prolow-density lipoprotein receptor-related protein 1	biotech	approved\|investigational

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RelatedDiseases for LRP1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
LRP1	C0036341	Schizophrenia	1	CTD_human
LRP1	C0041696	Unipolar Depression	1	PSYGENET
LRP1	C0149931	Migraine Disorders	1	CTD_human
LRP1	C0338480	Common Migraine	1	CTD_human
LRP1	C1269683	Major Depressive Disorder	1	PSYGENET

	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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