ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for LRP2

Gene summary

Gene information	Gene symbol	LRP2
	Gene ID	4036
	Gene name	LDL receptor related protein 2
	Synonyms	DBS\|GP330
	Cytomap	2q31.1
	Type of gene	protein-coding
	Description	low-density lipoprotein receptor-related protein 2Heymann nephritis antigen homologLRP-2calcium sensor proteinglycoprotein 330megalin
	Modification date	20180522
	UniProtAcc	P98164
	Context	PubMed: LRP2 [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
LRP2	GO:0006898	receptor-mediated endocytosis	23825075
LRP2	GO:0030001	metal ion transport	15126248

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Exon skipping events across known transcript of Ensembl for LRP2 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 LRP2

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 LRP2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_344688	2	169985522:169985594:169989083:169989191:169993901:169994003	169989083:169989191	ENSG00000081479.8	ENST00000263816.3
exon_skip_344690	2	169996052:169996120:169996964:169997055:169999183:169999303	169996964:169997055	ENSG00000081479.8	ENST00000263816.3
exon_skip_344692	2	170002256:170002433:170003248:170003469:170007407:170007536	170003248:170003469	ENSG00000081479.8	ENST00000263816.3
exon_skip_344695	2	170022441:170022564:170025048:170025186:170026211:170026328	170025048:170025186	ENSG00000081479.8	ENST00000263816.3
exon_skip_344696	2	170028524:170028644:170029605:170029734:170030428:170030674	170029605:170029734	ENSG00000081479.8	ENST00000263816.3
exon_skip_344698	2	170044479:170044775:170048341:170048543:170050270:170050402	170048341:170048543	ENSG00000081479.8	ENST00000263816.3
exon_skip_344699	2	170048341:170048543:170050270:170050402:170053420:170053540	170050270:170050402	ENSG00000081479.8	ENST00000263816.3
exon_skip_344701	2	170061988:170062147:170062532:170062698:170062839:170063760	170062532:170062698	ENSG00000081479.8	ENST00000263816.3
exon_skip_344703	2	170101202:170101442:170103214:170103496:170103887:170104025	170103214:170103496	ENSG00000081479.8	ENST00000443831.1,ENST00000263816.3
exon_skip_344705	2	170115534:170115727:170127413:170127617:170129436:170129577	170127413:170127617	ENSG00000081479.8	ENST00000263816.3
exon_skip_344707	2	170131545:170131748:170134254:170134461:170135881:170136105	170134254:170134461	ENSG00000081479.8	ENST00000263816.3
exon_skip_344710	2	170148762:170148879:170150657:170150771:170151109:170151220	170150657:170150771	ENSG00000081479.8	ENST00000443831.1,ENST00000263816.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for LRP2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_344688	2	169985522:169985594:169989083:169989191:169993901:169994003	169989083:169989191	ENSG00000081479.8	ENST00000263816.3
exon_skip_344690	2	169996052:169996120:169996964:169997055:169999183:169999303	169996964:169997055	ENSG00000081479.8	ENST00000263816.3
exon_skip_344692	2	170002256:170002433:170003248:170003469:170007407:170007536	170003248:170003469	ENSG00000081479.8	ENST00000263816.3
exon_skip_344696	2	170028524:170028644:170029605:170029734:170030428:170030674	170029605:170029734	ENSG00000081479.8	ENST00000263816.3
exon_skip_344701	2	170061988:170062147:170062532:170062698:170062839:170063760	170062532:170062698	ENSG00000081479.8	ENST00000263816.3
exon_skip_344703	2	170101202:170101442:170103214:170103496:170103887:170104025	170103214:170103496	ENSG00000081479.8	ENST00000263816.3,ENST00000443831.1
exon_skip_344705	2	170115534:170115727:170127413:170127617:170129436:170129577	170127413:170127617	ENSG00000081479.8	ENST00000263816.3
exon_skip_344710	2	170148762:170148879:170150657:170150771:170151109:170151220	170150657:170150771	ENSG00000081479.8	ENST00000263816.3,ENST00000443831.1

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 LRP2

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
ENST00000263816	169996964	169997055	Frame-shift
ENST00000263816	170003248	170003469	Frame-shift
ENST00000263816	170048341	170048543	Frame-shift
ENST00000263816	170062532	170062698	Frame-shift
ENST00000263816	169989083	169989191	In-frame
ENST00000263816	170025048	170025186	In-frame
ENST00000263816	170029605	170029734	In-frame
ENST00000263816	170050270	170050402	In-frame
ENST00000263816	170103214	170103496	In-frame
ENST00000263816	170127413	170127617	In-frame
ENST00000263816	170134254	170134461	In-frame
ENST00000263816	170150657	170150771	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
ENST00000263816	169996964	169997055	Frame-shift
ENST00000263816	170003248	170003469	Frame-shift
ENST00000263816	170062532	170062698	Frame-shift
ENST00000263816	169989083	169989191	In-frame
ENST00000263816	170029605	170029734	In-frame
ENST00000263816	170103214	170103496	In-frame
ENST00000263816	170127413	170127617	In-frame
ENST00000263816	170150657	170150771	In-frame

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Infer the effects of exon skipping event on protein functional features for LRP2

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
ENST00000263816	15825	4655	170150657	170150771	825	938	179	217
ENST00000263816	15825	4655	170134254	170134461	1852	2058	522	590
ENST00000263816	15825	4655	170127413	170127617	2403	2606	705	773
ENST00000263816	15825	4655	170103214	170103496	3195	3476	969	1063
ENST00000263816	15825	4655	170050270	170050402	8985	9116	2899	2943
ENST00000263816	15825	4655	170029605	170029734	11301	11429	3671	3714
ENST00000263816	15825	4655	170025048	170025186	11784	11921	3832	3878
ENST00000263816	15825	4655	169989083	169989191	13907	14014	4540	4576

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
ENST00000263816	15825	4655	170150657	170150771	825	938	179	217
ENST00000263816	15825	4655	170127413	170127617	2403	2606	705	773
ENST00000263816	15825	4655	170103214	170103496	3195	3476	969	1063
ENST00000263816	15825	4655	170029605	170029734	11301	11429	3671	3714
ENST00000263816	15825	4655	169989083	169989191	13907	14014	4540	4576

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
P98164	179	217	26	4655	Chain	ID=PRO_0000017321;Note=Low-density lipoprotein receptor-related protein 2
P98164	179	217	164	179	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	179	217	183	195	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	179	217	190	208	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	179	217	202	217	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	179	217	146	180	Domain	Note=LDL-receptor class A 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	179	217	182	218	Domain	Note=LDL-receptor class A 5;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	179	217	26	4423	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98164	522	590	26	4655	Chain	ID=PRO_0000017321;Note=Low-density lipoprotein receptor-related protein 2
P98164	522	590	522	568	Repeat	Note=LDL-receptor class B 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00461
P98164	522	590	569	613	Repeat	Note=LDL-receptor class B 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00461
P98164	522	590	26	4423	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98164	705	773	26	4655	Chain	ID=PRO_0000017321;Note=Low-density lipoprotein receptor-related protein 2
P98164	705	773	753	795	Repeat	Note=LDL-receptor class B 5;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00461
P98164	705	773	26	4423	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98164	969	1063	26	4655	Chain	ID=PRO_0000017321;Note=Low-density lipoprotein receptor-related protein 2
P98164	969	1063	1026	1038	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	969	1063	1033	1051	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	969	1063	1045	1060	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	969	1063	1025	1061	Domain	Note=LDL-receptor class A 8;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	969	1063	26	4423	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98164	2899	2943	26	4655	Chain	ID=PRO_0000017321;Note=Low-density lipoprotein receptor-related protein 2
P98164	2899	2943	2883	2899	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	2899	2943	2906	2918	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	2899	2943	2913	2931	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	2899	2943	2925	2943	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	2899	2943	2863	2900	Domain	Note=LDL-receptor class A 20;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	2899	2943	2905	2944	Domain	Note=LDL-receptor class A 21;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	2899	2943	2908	2908	Sequence conflict	Note=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
P98164	2899	2943	2921	2921	Sequence conflict	Note=S->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
P98164	2899	2943	26	4423	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98164	3671	3714	26	4655	Chain	ID=PRO_0000017321;Note=Low-density lipoprotein receptor-related protein 2
P98164	3671	3714	3654	3671	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	3671	3714	3678	3692	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	3671	3714	3686	3705	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	3671	3714	3699	3714	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	3671	3714	3634	3672	Domain	Note=LDL-receptor class A 29;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	3671	3714	3677	3715	Domain	Note=LDL-receptor class A 30;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	3671	3714	3680	3680	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98164	3671	3714	26	4423	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98164	3832	3878	26	4655	Chain	ID=PRO_0000017321;Note=Low-density lipoprotein receptor-related protein 2
P98164	3832	3878	3817	3832	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	3832	3878	3842	3854	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	3832	3878	3849	3867	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	3832	3878	3861	3878	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	3832	3878	3797	3833	Domain	Note=LDL-receptor class A 33;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	3832	3878	3841	3879	Domain	Note=LDL-receptor class A 34;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	3832	3878	26	4423	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98164	4540	4576	26	4655	Chain	ID=PRO_0000017321;Note=Low-density lipoprotein receptor-related protein 2
P98164	4540	4576	4569	4569	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:A2ARV4
P98164	4540	4576	4447	4655	Topological domain	Note=Cytoplasmic;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
P98164	179	217	26	4655	Chain	ID=PRO_0000017321;Note=Low-density lipoprotein receptor-related protein 2
P98164	179	217	164	179	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	179	217	183	195	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	179	217	190	208	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	179	217	202	217	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	179	217	146	180	Domain	Note=LDL-receptor class A 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	179	217	182	218	Domain	Note=LDL-receptor class A 5;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	179	217	26	4423	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98164	705	773	26	4655	Chain	ID=PRO_0000017321;Note=Low-density lipoprotein receptor-related protein 2
P98164	705	773	753	795	Repeat	Note=LDL-receptor class B 5;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00461
P98164	705	773	26	4423	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98164	969	1063	26	4655	Chain	ID=PRO_0000017321;Note=Low-density lipoprotein receptor-related protein 2
P98164	969	1063	1026	1038	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	969	1063	1033	1051	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	969	1063	1045	1060	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	969	1063	1025	1061	Domain	Note=LDL-receptor class A 8;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	969	1063	26	4423	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98164	3671	3714	26	4655	Chain	ID=PRO_0000017321;Note=Low-density lipoprotein receptor-related protein 2
P98164	3671	3714	3654	3671	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	3671	3714	3678	3692	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	3671	3714	3686	3705	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	3671	3714	3699	3714	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	3671	3714	3634	3672	Domain	Note=LDL-receptor class A 29;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	3671	3714	3677	3715	Domain	Note=LDL-receptor class A 30;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
P98164	3671	3714	3680	3680	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98164	3671	3714	26	4423	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P98164	4540	4576	26	4655	Chain	ID=PRO_0000017321;Note=Low-density lipoprotein receptor-related protein 2
P98164	4540	4576	4569	4569	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:A2ARV4
P98164	4540	4576	4447	4655	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for LRP2

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-G3-A3CJ-01	exon_skip_344688	169989084	169989191	169989110	169989110	Frame_Shift_Del	T	-	p.T4568fs
KIRC	TCGA-B2-5635-01	exon_skip_344688	169989084	169989191	169989165	169989165	Frame_Shift_Del	A	-	p.K4550fs
COAD	TCGA-G4-6628-01	exon_skip_344690	169996965	169997055	169997025	169997025	Frame_Shift_Del	G	-	p.P4380fs
UCS	TCGA-N7-A4Y0-01	exon_skip_344690	169996965	169997055	169997025	169997025	Frame_Shift_Del	G	-	p.P4380fs
LIHC	TCGA-DD-A3A0-01	exon_skip_344698	170048342	170048543	170048472	170048472	Frame_Shift_Del	G	-	p.Q2968fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_344705	170127414	170127617	170127436	170127436	Frame_Shift_Del	A	-	p.F766fs
ACC	TCGA-PK-A5HB-01	exon_skip_344705	170127414	170127617	170127462	170127462	Frame_Shift_Del	A	-	p.S758fs
STAD	TCGA-BR-4256-01	exon_skip_344705	170127414	170127617	170127462	170127462	Frame_Shift_Del	A	-	p.S758fs
STAD	TCGA-BR-4256-01	exon_skip_344705	170127414	170127617	170127462	170127462	Frame_Shift_Del	A	-	p.S758X
STAD	TCGA-CG-5723-01	exon_skip_344705	170127414	170127617	170127462	170127462	Frame_Shift_Del	A	-	p.S758fs
STAD	TCGA-CG-5723-01	exon_skip_344705	170127414	170127617	170127462	170127462	Frame_Shift_Del	A	-	p.S758X
LIHC	TCGA-DD-A39Y-01	exon_skip_344705	170127414	170127617	170127490	170127490	Frame_Shift_Del	A	-	p.F748fs
COAD	TCGA-CM-6171-01	exon_skip_344705	170127414	170127617	170127594	170127594	Frame_Shift_Del	A	-	p.S714fs
BRCA	TCGA-E9-A1NI-01	exon_skip_344690	169996965	169997055	169997024	169997025	Frame_Shift_Ins	-	G	p.C4381fs
COAD	TCGA-CM-5861-01	exon_skip_344690	169996965	169997055	169997024	169997025	Frame_Shift_Ins	-	G	p.P4380fs
UCS	TCGA-N8-A4PM-01	exon_skip_344690	169996965	169997055	169997024	169997025	Frame_Shift_Ins	-	G	p.L4380fs
UCS	TCGA-N8-A4PM-01	exon_skip_344690	169996965	169997055	169997024	169997025	Frame_Shift_Ins	-	G	p.P4380fs
STAD	TCGA-BR-7851-01	exon_skip_344690	169996965	169997055	169997025	169997026	Frame_Shift_Ins	-	G	p.P4380fs
STAD	TCGA-F1-6177-01	exon_skip_344690	169996965	169997055	169997025	169997026	Frame_Shift_Ins	-	G	p.P4380fs
COAD	TCGA-A6-6780-01	exon_skip_344705	170127414	170127617	170127461	170127462	Frame_Shift_Ins	-	A	p.S758fs
STAD	TCGA-CD-8526-01	exon_skip_344705	170127414	170127617	170127594	170127595	Frame_Shift_Ins	-	A	p.S714fs
LUAD	TCGA-53-7626-01	exon_skip_344707	170134255	170134461	170134449	170134450	Frame_Shift_Ins	-	A	p.F526fs
COAD	TCGA-AZ-4315-01	exon_skip_344690	169996965	169997055	169996997	169996997	Nonsense_Mutation	G	T	p.C4389X
MESO	TCGA-LK-A4O6-01	exon_skip_344692	170003249	170003469	170003333	170003333	Nonsense_Mutation	G	A	p.R4243*
ESCA	TCGA-ZR-A9CJ-01	exon_skip_344695	170025049	170025186	170025142	170025142	Nonsense_Mutation	C	A	p.E3848*
ESCA	TCGA-ZR-A9CJ-01	exon_skip_344695	170025049	170025186	170025142	170025142	Nonsense_Mutation	C	A	p.E3848X
SKCM	TCGA-FR-A726-01	exon_skip_344698	170048342	170048543	170048418	170048418	Nonsense_Mutation	G	A	p.Q2986*
SKCM	TCGA-FW-A3R5-06	exon_skip_344703	170103215	170103496	170103479	170103479	Nonsense_Mutation	G	A	p.Q976*
LUSC	TCGA-18-3416-01	exon_skip_344705	170127414	170127617	170127413	170127413	Splice_Site	C	A	p.G774_splice

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

Depth of coverage in three exons

Mutation description

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	170127414	170127617	170127462	170127462	Frame_Shift_Del	A	-	p.S758fs
CW2_LARGE_INTESTINE	170127414	170127617	170127593	170127594	Frame_Shift_Ins	-	A	p.S714fs
NEC8_TESTIS	169989084	169989191	169989092	169989092	Missense_Mutation	C	T	p.G4574R
OC316_OVARY	169989084	169989191	169989094	169989094	Missense_Mutation	T	C	p.D4573G
OC314_OVARY	169989084	169989191	169989094	169989094	Missense_Mutation	T	C	p.D4573G
NCIH292_LUNG	169989084	169989191	169989132	169989132	Missense_Mutation	C	A	p.E4560D
MET2B	169989084	169989191	169989140	169989140	Missense_Mutation	G	A	p.P4558S
MM386_SKIN	169989084	169989191	169989148	169989148	Missense_Mutation	G	A	p.P4555L
HLE_LIVER	169996965	169997055	169997008	169997008	Missense_Mutation	C	T	p.G4386R
451LU_SKIN	169996965	169997055	169997053	169997053	Missense_Mutation	T	G	p.I4371L
HEPG2_LIVER	170003249	170003469	170003252	170003252	Missense_Mutation	C	T	p.E4270K
C3A_LIVER	170003249	170003469	170003252	170003252	Missense_Mutation	C	T	p.E4270K
HS746T_STOMACH	170003249	170003469	170003287	170003287	Missense_Mutation	T	C	p.K4258R
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	170003249	170003469	170003303	170003303	Missense_Mutation	C	T	p.V4253I
OE19_OESOPHAGUS	170003249	170003469	170003351	170003351	Missense_Mutation	C	T	p.D4237N
SEKI_SKIN	170003249	170003469	170003362	170003362	Missense_Mutation	C	T	p.G4233D
HCT15_LARGE_INTESTINE	170003249	170003469	170003378	170003378	Missense_Mutation	G	T	p.L4228I
SNUC2A_LARGE_INTESTINE	170003249	170003469	170003402	170003402	Missense_Mutation	G	T	p.R4220S
SNUC2B_LARGE_INTESTINE	170003249	170003469	170003402	170003402	Missense_Mutation	G	T	p.R4220S
CP66MEL_SKIN	170003249	170003469	170003411	170003411	Missense_Mutation	C	T	p.G4217R
MCC13_SKIN	170003249	170003469	170003441	170003441	Missense_Mutation	C	T	p.E4207K
NCIH650_LUNG	170025049	170025186	170025119	170025119	Missense_Mutation	G	C	p.I3855M
NCIH513_PLEURA	170029606	170029734	170029642	170029642	Missense_Mutation	C	T	p.D3703N
AGS_STOMACH	170029606	170029734	170029693	170029693	Missense_Mutation	A	G	p.C3686R
LN405_CENTRAL_NERVOUS_SYSTEM	170048342	170048543	170048358	170048358	Missense_Mutation	T	G	p.I3006L
NCIH2286_LUNG	170048342	170048543	170048393	170048393	Missense_Mutation	G	T	p.S2994Y
A431_SKIN	170050271	170050402	170050295	170050295	Missense_Mutation	C	A	p.D2936Y
C33A_CERVIX	170062533	170062698	170062644	170062644	Missense_Mutation	T	C	p.Y2482C
NCIH1838_LUNG	170062533	170062698	170062657	170062657	Missense_Mutation	T	C	p.R2478G
HEC1A_ENDOMETRIUM	170062533	170062698	170062664	170062664	Missense_Mutation	C	A	p.W2475C
HEC1_ENDOMETRIUM	170062533	170062698	170062664	170062664	Missense_Mutation	C	A	p.W2475C
HEC1B_ENDOMETRIUM	170062533	170062698	170062664	170062664	Missense_Mutation	C	A	p.W2475C
JVM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	170062533	170062698	170062680	170062680	Missense_Mutation	C	A	p.G2470V
SNU81_LARGE_INTESTINE	170103215	170103496	170103251	170103251	Missense_Mutation	G	T	p.H1052N
RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	170103215	170103496	170103330	170103330	Missense_Mutation	C	G	p.Q1025H
COLO775_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	170103215	170103496	170103330	170103330	Missense_Mutation	C	G	p.Q1025H
SNGM_ENDOMETRIUM	170103215	170103496	170103406	170103406	Missense_Mutation	C	A	p.C1000F
RERFLCFM_LUNG	170103215	170103496	170103442	170103442	Missense_Mutation	C	G	p.C988S
TC205_BONE	170103215	170103496	170103452	170103452	Missense_Mutation	T	A	p.S985C
HCT15_LARGE_INTESTINE	170103215	170103496	170103470	170103470	Missense_Mutation	G	A	p.H979Y
NCIH2342_LUNG	170103215	170103496	170103488	170103488	Missense_Mutation	C	A	p.A973S
GP2D_LARGE_INTESTINE	170127414	170127617	170127417	170127417	Missense_Mutation	T	C	p.T773A
GP5D_LARGE_INTESTINE	170127414	170127617	170127417	170127417	Missense_Mutation	T	C	p.T773A
MCC13_SKIN	170127414	170127617	170127522	170127523	Missense_Mutation	CC	TT	p.G738R
MCC13_SKIN	170127414	170127617	170127522	170127522	Missense_Mutation	C	T	p.G738R
OV56_OVARY	170127414	170127617	170127546	170127546	Missense_Mutation	C	T	p.E730K
DMS273_LUNG	170127414	170127617	170127572	170127572	Missense_Mutation	C	G	p.G721A
DAOY_CENTRAL_NERVOUS_SYSTEM	170127414	170127617	170127597	170127597	Missense_Mutation	A	T	p.F713I
FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	170127414	170127617	170127608	170127608	Missense_Mutation	T	C	p.N709S
C32_SKIN	170134255	170134461	170134459	170134459	Missense_Mutation	T	A	p.Y523F
JHUEM7_ENDOMETRIUM	170150658	170150771	170150691	170150691	Missense_Mutation	C	A	p.D207Y
NCIH835_LUNG	170150658	170150771	170150721	170150721	Missense_Mutation	G	A	p.P197S
CORL24_LUNG	170150658	170150771	170150732	170150732	Missense_Mutation	C	A	p.G193V
HT115_LARGE_INTESTINE	170150658	170150771	170150738	170150738	Missense_Mutation	C	T	p.G191D
639V_URINARY_TRACT	170150658	170150771	170150767	170150767	Missense_Mutation	C	G	p.E181D
HCC2998_LARGE_INTESTINE	170003249	170003469	170003346	170003346	Nonsense_Mutation	A	C	p.Y4238*
HCT116_LARGE_INTESTINE	170103215	170103496	170103419	170103419	Nonsense_Mutation	G	A	p.R996*
HCC1395_BREAST	170127414	170127617	170127414	170127414	Splice_Site	C	A	p.G774*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LRP2

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 LRP2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LRP2

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RelatedDrugs for LRP2

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
	P98164	DB00071	Insulin Pork	Low-density lipoprotein receptor-related protein 2	biotech	approved
	P98164	DB00013	Urokinase	Low-density lipoprotein receptor-related protein 2	biotech	approved\|investigational\|withdrawn
	P98164	DB00798	Gentamicin	Low-density lipoprotein receptor-related protein 2	small molecule	approved\|vet_approved

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RelatedDiseases for LRP2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
LRP2	C0005944	Metabolic Bone Disorder	1	CTD_human
LRP2	C0008073	Developmental Disabilities	1	CTD_human
LRP2	C0015398	Eye Diseases, Hereditary	1	CTD_human
LRP2	C0018784	Sensorineural Hearing Loss (disorder)	1	CTD_human;HPO
LRP2	C0019284	Diaphragmatic Hernia	1	CTD_human
LRP2	C0022658	Kidney Diseases	1	CTD_human
LRP2	C0033578	Prostatic Neoplasms	1	CTD_human
LRP2	C0036341	Schizophrenia	1	PSYGENET
LRP2	C0042870	Vitamin D Deficiency	1	CTD_human
LRP2	C0376634	Craniofacial Abnormalities	1	CTD_human
LRP2	C1857277	Donnai-Barrow syndrome	1	CTD_human;ORPHANET;UNIPROT

	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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