ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for LRP1B

Gene summary

Gene information	Gene symbol	LRP1B
	Gene ID	53353
	Gene name	LDL receptor related protein 1B
	Synonyms	LRP-1B\|LRP-DIT\|LRPDIT
	Cytomap	2q22.1-q22.2
	Type of gene	protein-coding
	Description	low-density lipoprotein receptor-related protein 1BLRP-deleted in tumorslow density lipoprotein receptor related protein-deleted in tumorlow density lipoprotein receptor-related protein 1Blow density lipoprotein-related protein 1B (deleted in tumors)
	Modification date	20200313
	UniProtAcc	E7ERG8, H0Y7T7, H7C0A8, L8ECI0, Q4ZFV5, Q4ZG53, Q53QM8, Q53QP5, Q53RA0, Q53RG4, Q53RL0, Q53S26, Q53S73, Q53S76, Q53TB8, Q580W7, Q8WY26, Q8WY27, Q8WY28, Q9NZR2,
	Context

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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Gene structures and expression levels for LRP1B

Skipped exons in the ROSMAP, MSBB, and Mayo 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.

ENSG00000168702

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

ENST

Transcript info.

Base mean exp.

log2FC(AD/control)

P-value

Adjc. p-value

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for LRP1B

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_145213	chr2	140850131:140850329:140851652:140851783:140867590:140867834	140851652:140851783
exon_skip_173121	chr2	141019922:141020102:141048986:141049222:141055116:141055259	141048986:141049222
exon_skip_178223	chr2	140456455:140456603:140457463:140457651:140475138:140475337	140457463:140457651
exon_skip_198591	chr2	140370710:140370842:140371179:140371285:140373008:140373137	140371179:140371285
exon_skip_201388	chr2	140239442:140239532:140247086:140247162:140270242:140270346	140247086:140247162
exon_skip_202720	chr2	141005335:141005457:141013556:141013745:141015696:141015915	141013556:141013745
exon_skip_206408	chr2	140868099:140868263:140883817:140884021:140886138:140886335	140883817:140884021
exon_skip_246753	chr2	140883817:140884021:140886138:140886335:140902920:140903165	140886138:140886335
exon_skip_251341	chr2	140989532:140989657:140993995:140994135:141005335:141005457	140993995:140994135
exon_skip_257027	chr2	140270242:140270346:140274424:140274598:140297808:140297969	140274424:140274598
exon_skip_265718	chr2	140238182:140238296:140239442:140239532:140247086:140247162	140239442:140239532
exon_skip_270221	chr2	140373008:140373137:140378180:140378286:140385893:140386009	140378180:140378286
exon_skip_275149	chr2	140776098:140776238:140813657:140813806:140839991:140840085	140813657:140813806
exon_skip_288823	chr2	141048986:141049222:141055116:141055259:141058883:141059054	141055116:141055259
exon_skip_32611	chr2	140247086:140247162:140269268:140269381:140270242:140270346	140269268:140269381
exon_skip_34325	chr2	140352953:140353072:140356342:140356476:140357979:140358068	140356342:140356476
exon_skip_3888	chr2	141013556:141013745:141015696:141015915:141019922:141020102	141015696:141015915
exon_skip_41220	chr2	140457463:140457651:140475138:140475337:140485343:140485524	140475138:140475337
exon_skip_53128	chr2	140922965:140923147:140950235:140950402:140951860:140951940	140950235:140950402
exon_skip_54260	chr2	140525844:140525993:140526237:140526350:140534021:140534140	140526237:140526350
exon_skip_55124	chr2	140487617:140487739:140492608:140492693:140495565:140495748	140492608:140492693
exon_skip_98218	chr2	140839991:140840085:140840918:140841092:140850102:140850329	140840918:140841092

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information

Tissue type

Avg(PSIs) in AD

Avg(PSIs) in control

Difference (PSI)

Adj. p-value

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Open reading frame (ORF) annotation in the exon skipping event for LRP1B

Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000389484	140274424	140274598	Frame-shift
ENST00000389484	140378180	140378286	Frame-shift
ENST00000389484	140840918	140841092	Frame-shift
ENST00000389484	141013556	141013745	Frame-shift
ENST00000389484	140356342	140356476	In-frame
ENST00000389484	140457463	140457651	In-frame
ENST00000389484	140813657	140813806	In-frame
ENST00000389484	140886138	140886335	In-frame
ENST00000389484	140950235	140950402	In-frame
ENST00000389484	140993995	140994135	In-frame
ENST00000389484	141048986	141049222	In-frame
ENST00000389484	141055116	141055259	In-frame

Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000389484	140378180	140378286	Frame-shift
ENST00000389484	140492608	140492693	Frame-shift
ENST00000389484	140840918	140841092	Frame-shift
ENST00000389484	140883817	140884021	Frame-shift
ENST00000389484	141013556	141013745	Frame-shift
ENST00000389484	140356342	140356476	In-frame
ENST00000389484	140457463	140457651	In-frame
ENST00000389484	140813657	140813806	In-frame
ENST00000389484	140851652	140851783	In-frame
ENST00000389484	140993995	140994135	In-frame
ENST00000389484	141048986	141049222	In-frame
ENST00000389484	141055116	141055259	In-frame

Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000389484	140239442	140239532	Frame-shift
ENST00000389484	140247086	140247162	Frame-shift
ENST00000389484	140371179	140371285	Frame-shift
ENST00000389484	140378180	140378286	Frame-shift
ENST00000389484	140475138	140475337	Frame-shift
ENST00000389484	140492608	140492693	Frame-shift
ENST00000389484	140840918	140841092	Frame-shift
ENST00000389484	140883817	140884021	Frame-shift
ENST00000389484	141015696	141015915	Frame-shift
ENST00000389484	140356342	140356476	In-frame
ENST00000389484	140526237	140526350	In-frame
ENST00000389484	140886138	140886335	In-frame
ENST00000389484	140950235	140950402	In-frame
ENST00000389484	140993995	140994135	In-frame
ENST00000389484	141048986	141049222	In-frame

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Infer the effects of exon skipping event on protein functional features for LRP1B

p-ENSG00000168702_img4.png
boxplot

Loci of skipped exons in ROSMAP 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
ENST00000389484	16552	4599	141055116	141055259	2381	2523	469	517
ENST00000389484	16552	4599	141048986	141049222	2525	2760	517	596
ENST00000389484	16552	4599	140993995	140994135	3476	3615	834	881
ENST00000389484	16552	4599	140950235	140950402	3941	4107	989	1045
ENST00000389484	16552	4599	140886138	140886335	4739	4935	1255	1321
ENST00000389484	16552	4599	140813657	140813806	6182	6330	1736	1786
ENST00000389484	16552	4599	140457463	140457651	10598	10785	3208	3271
ENST00000389484	16552	4599	140356342	140356476	12368	12501	3798	3843

Loci of skipped exons in MSBB 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
ENST00000389484	16552	4599	141055116	141055259	2381	2523	469	517
ENST00000389484	16552	4599	141048986	141049222	2525	2760	517	596
ENST00000389484	16552	4599	140993995	140994135	3476	3615	834	881
ENST00000389484	16552	4599	140851652	140851783	5552	5682	1526	1570
ENST00000389484	16552	4599	140813657	140813806	6182	6330	1736	1786
ENST00000389484	16552	4599	140457463	140457651	10598	10785	3208	3271
ENST00000389484	16552	4599	140356342	140356476	12368	12501	3798	3843

Loci of skipped exons in Mayo 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
ENST00000389484	16552	4599	141048986	141049222	2525	2760	517	596
ENST00000389484	16552	4599	140993995	140994135	3476	3615	834	881
ENST00000389484	16552	4599	140950235	140950402	3941	4107	989	1045
ENST00000389484	16552	4599	140886138	140886335	4739	4935	1255	1321
ENST00000389484	16552	4599	140526237	140526350	8735	8847	2587	2625
ENST00000389484	16552	4599	140356342	140356476	12368	12501	3798	3843

Lost protein functional features of individual exon skipping events in ROSMAP.

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
Q9NZR2	469	517	21	4599	Chain	ID=PRO_0000017319;Note=Low-density lipoprotein receptor-related protein 1B
Q9NZR2	469	517	471	517	Domain	Note=EGF-like 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9NZR2	469	517	516	516	Sequence conflict	Note=C->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NZR2	469	517	25	4444	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZR2	517	596	21	4599	Chain	ID=PRO_0000017319;Note=Low-density lipoprotein receptor-related protein 1B
Q9NZR2	517	596	471	517	Domain	Note=EGF-like 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9NZR2	517	596	568	610	Repeat	Note=LDL-receptor class B 4
Q9NZR2	517	596	25	4444	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZR2	834	881	21	4599	Chain	ID=PRO_0000017319;Note=Low-density lipoprotein receptor-related protein 1B
Q9NZR2	834	881	845	857	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	834	881	852	870	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	834	881	864	881	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	834	881	794	834	Domain	Note=EGF-like 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9NZR2	834	881	844	882	Domain	Note=LDL-receptor class A 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
Q9NZR2	834	881	25	4444	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZR2	989	1045	21	4599	Chain	ID=PRO_0000017319;Note=Low-density lipoprotein receptor-related protein 1B
Q9NZR2	989	1045	975	993	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	989	1045	987	1002	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	989	1045	1006	1018	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	989	1045	1013	1031	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	989	1045	1025	1042	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	989	1045	966	1003	Domain	Note=LDL-receptor class A 6;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
Q9NZR2	989	1045	1005	1043	Domain	Note=LDL-receptor class A 7;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
Q9NZR2	989	1045	1041	1041	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZR2	989	1045	25	4444	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZR2	1255	1321	21	4599	Chain	ID=PRO_0000017319;Note=Low-density lipoprotein receptor-related protein 1B
Q9NZR2	1255	1321	1298	1298	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZR2	1255	1321	1300	1346	Repeat	Note=LDL-receptor class B 8
Q9NZR2	1255	1321	1257	1257	Sequence conflict	Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NZR2	1255	1321	25	4444	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZR2	1736	1786	21	4599	Chain	ID=PRO_0000017319;Note=Low-density lipoprotein receptor-related protein 1B
Q9NZR2	1736	1786	1754	1754	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZR2	1736	1786	1705	1744	Repeat	Note=LDL-receptor class B 15
Q9NZR2	1736	1786	1745	1787	Repeat	Note=LDL-receptor class B 16
Q9NZR2	1736	1786	25	4444	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZR2	3208	3271	21	4599	Chain	ID=PRO_0000017319;Note=Low-density lipoprotein receptor-related protein 1B
Q9NZR2	3208	3271	3186	3224	Repeat	Note=LDL-receptor class B 29
Q9NZR2	3208	3271	3225	3268	Repeat	Note=LDL-receptor class B 30
Q9NZR2	3208	3271	25	4444	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZR2	3798	3843	21	4599	Chain	ID=PRO_0000017319;Note=Low-density lipoprotein receptor-related protein 1B
Q9NZR2	3798	3843	3805	3818	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	3798	3843	3812	3827	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	3798	3843	3829	3842	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	3798	3843	3801	3843	Domain	Note=EGF-like 14;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9NZR2	3798	3843	25	4444	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

Lost protein functional features of individual exon skipping events in MSBB.

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
Q9NZR2	469	517	21	4599	Chain	ID=PRO_0000017319;Note=Low-density lipoprotein receptor-related protein 1B
Q9NZR2	469	517	471	517	Domain	Note=EGF-like 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9NZR2	469	517	516	516	Sequence conflict	Note=C->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NZR2	469	517	25	4444	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZR2	517	596	21	4599	Chain	ID=PRO_0000017319;Note=Low-density lipoprotein receptor-related protein 1B
Q9NZR2	517	596	471	517	Domain	Note=EGF-like 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9NZR2	517	596	568	610	Repeat	Note=LDL-receptor class B 4
Q9NZR2	517	596	25	4444	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZR2	834	881	21	4599	Chain	ID=PRO_0000017319;Note=Low-density lipoprotein receptor-related protein 1B
Q9NZR2	834	881	845	857	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	834	881	852	870	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	834	881	864	881	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	834	881	794	834	Domain	Note=EGF-like 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9NZR2	834	881	844	882	Domain	Note=LDL-receptor class A 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
Q9NZR2	834	881	25	4444	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZR2	1526	1570	21	4599	Chain	ID=PRO_0000017319;Note=Low-density lipoprotein receptor-related protein 1B
Q9NZR2	1526	1570	1527	1570	Domain	Note=EGF-like 7;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9NZR2	1526	1570	1549	1549	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZR2	1526	1570	25	4444	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZR2	1736	1786	21	4599	Chain	ID=PRO_0000017319;Note=Low-density lipoprotein receptor-related protein 1B
Q9NZR2	1736	1786	1754	1754	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZR2	1736	1786	1705	1744	Repeat	Note=LDL-receptor class B 15
Q9NZR2	1736	1786	1745	1787	Repeat	Note=LDL-receptor class B 16
Q9NZR2	1736	1786	25	4444	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZR2	3208	3271	21	4599	Chain	ID=PRO_0000017319;Note=Low-density lipoprotein receptor-related protein 1B
Q9NZR2	3208	3271	3186	3224	Repeat	Note=LDL-receptor class B 29
Q9NZR2	3208	3271	3225	3268	Repeat	Note=LDL-receptor class B 30
Q9NZR2	3208	3271	25	4444	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZR2	3798	3843	21	4599	Chain	ID=PRO_0000017319;Note=Low-density lipoprotein receptor-related protein 1B
Q9NZR2	3798	3843	3805	3818	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	3798	3843	3812	3827	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	3798	3843	3829	3842	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	3798	3843	3801	3843	Domain	Note=EGF-like 14;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9NZR2	3798	3843	25	4444	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

Lost protein functional features of individual exon skipping events in Mayo.

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
Q9NZR2	517	596	21	4599	Chain	ID=PRO_0000017319;Note=Low-density lipoprotein receptor-related protein 1B
Q9NZR2	517	596	471	517	Domain	Note=EGF-like 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9NZR2	517	596	568	610	Repeat	Note=LDL-receptor class B 4
Q9NZR2	517	596	25	4444	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZR2	834	881	21	4599	Chain	ID=PRO_0000017319;Note=Low-density lipoprotein receptor-related protein 1B
Q9NZR2	834	881	845	857	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	834	881	852	870	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	834	881	864	881	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	834	881	794	834	Domain	Note=EGF-like 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9NZR2	834	881	844	882	Domain	Note=LDL-receptor class A 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
Q9NZR2	834	881	25	4444	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZR2	989	1045	21	4599	Chain	ID=PRO_0000017319;Note=Low-density lipoprotein receptor-related protein 1B
Q9NZR2	989	1045	975	993	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	989	1045	987	1002	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	989	1045	1006	1018	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	989	1045	1013	1031	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	989	1045	1025	1042	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	989	1045	966	1003	Domain	Note=LDL-receptor class A 6;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
Q9NZR2	989	1045	1005	1043	Domain	Note=LDL-receptor class A 7;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
Q9NZR2	989	1045	1041	1041	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZR2	989	1045	25	4444	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZR2	1255	1321	21	4599	Chain	ID=PRO_0000017319;Note=Low-density lipoprotein receptor-related protein 1B
Q9NZR2	1255	1321	1298	1298	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZR2	1255	1321	1300	1346	Repeat	Note=LDL-receptor class B 8
Q9NZR2	1255	1321	1257	1257	Sequence conflict	Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NZR2	1255	1321	25	4444	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZR2	2587	2625	21	4599	Chain	ID=PRO_0000017319;Note=Low-density lipoprotein receptor-related protein 1B
Q9NZR2	2587	2625	2591	2603	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	2587	2625	2598	2616	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	2587	2625	2610	2625	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	2587	2625	2551	2587	Domain	Note=LDL-receptor class A 12;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
Q9NZR2	2587	2625	2590	2626	Domain	Note=LDL-receptor class A 13;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00124
Q9NZR2	2587	2625	25	4444	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZR2	3798	3843	21	4599	Chain	ID=PRO_0000017319;Note=Low-density lipoprotein receptor-related protein 1B
Q9NZR2	3798	3843	3805	3818	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	3798	3843	3812	3827	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	3798	3843	3829	3842	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9NZR2	3798	3843	3801	3843	Domain	Note=EGF-like 14;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q9NZR2	3798	3843	25	4444	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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3'-UTR located exon skipping events that lost miRNA binding sites in LRP1B

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

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SNVs in the skipped exons for LRP1B

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- 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

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AD stage-associated exon skippint events for LRP1B

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

ADstage

MSBB

IFG

exon_skip_270221

4.161975e-01

2.759854e-02

chr2

140373008

140373137

140378180

140378286

140385893

140386009

CDR

MSBB

IFG

exon_skip_32611

-4.860296e-01

8.735486e-03

chr2

140247086

140247162

140269268

140269381

140270242

140270346

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LRP1B

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

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Correlation with RNA binding proteins (RBPs) for LRP1B

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	CNOT4	exon_skip_270221	-4.382527e-01	2.054343e-07

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RelatedDrugs for LRP1B

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for LRP1B

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 RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for LRP1B

Gene structures and expression levels for LRP1B

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for LRP1B

Open reading frame (ORF) annotation in the exon skipping event for LRP1B

Infer the effects of exon skipping event on protein functional features for LRP1B

3'-UTR located exon skipping events that lost miRNA binding sites in LRP1B

SNVs in the skipped exons for LRP1B

AD stage-associated exon skippint events for LRP1B

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LRP1B

Correlation with RNA binding proteins (RBPs) for LRP1B

RelatedDrugs for LRP1B

RelatedDiseases for LRP1B