ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for LDLR

Gene summary

Gene information	Gene symbol	LDLR
	Gene ID	3949
	Gene name	low density lipoprotein receptor
	Synonyms	FH\|FHC\|LDLCQ2
	Cytomap	19p13.2
	Type of gene	protein-coding
	Description	low-density lipoprotein receptorLDL receptorlow-density lipoprotein receptor class A domain-containing protein 3
	Modification date	20180520
	UniProtAcc	P01130
	Context	PubMed: LDLR [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 LDLR 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 LDLR

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 LDLR

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_302365	19	11200153:11200291:11210898:11211021:11213339:11213462	11210898:11211021	ENSG00000130164.7	ENST00000558013.1,ENST00000545707.1,ENST00000557933.1,ENST00000557958.1,ENST00000455727.2
exon_skip_302366	19	11210898:11211021:11213339:11213462:11215895:11216276	11213339:11213462	ENSG00000130164.7	ENST00000558013.1,ENST00000558518.1,ENST00000252444.5,ENST00000557933.1
exon_skip_302367	19	11213339:11213462:11215895:11216276:11217240:11217363	11215895:11216276	ENSG00000130164.7	ENST00000558013.1,ENST00000558518.1,ENST00000252444.5,ENST00000557933.1
exon_skip_302368	19	11213339:11213462:11217240:11217363:11218067:11218185	11217240:11217363	ENSG00000130164.7	ENST00000545707.1
exon_skip_302370	19	11217240:11217363:11218067:11218190:11221327:11221447	11218067:11218190	ENSG00000130164.7	ENST00000558013.1,ENST00000545707.1,ENST00000558518.1,ENST00000252444.5,ENST00000557933.1,ENST00000535915.1
exon_skip_302372	19	11218067:11218190:11221327:11221447:11222189:11222311	11221327:11221447	ENSG00000130164.7	ENST00000558013.1,ENST00000545707.1,ENST00000558518.1,ENST00000252444.5,ENST00000557933.1,ENST00000455727.2,ENST00000535915.1
exon_skip_302374	19	11221388:11221447:11222189:11222315:11223953:11224125	11222189:11222315	ENSG00000130164.7	ENST00000560173.1,ENST00000558013.1,ENST00000545707.1,ENST00000558518.1,ENST00000252444.5,ENST00000557933.1,ENST00000455727.2,ENST00000535915.1
exon_skip_302375	19	11222189:11222315:11223953:11224125:11224210:11224300	11223953:11224125	ENSG00000130164.7	ENST00000558013.1,ENST00000560467.1,ENST00000545707.1,ENST00000558518.1,ENST00000252444.5,ENST00000557933.1,ENST00000455727.2,ENST00000535915.1
exon_skip_302378	19	11224210:11224438:11226769:11226888:11227534:11227674	11226769:11226888	ENSG00000130164.7	ENST00000558013.1,ENST00000545707.1,ENST00000558518.1,ENST00000252444.5,ENST00000557933.1,ENST00000455727.2,ENST00000535915.1
exon_skip_302379	19	11224210:11224438:11226769:11226888:11230767:11230909	11226769:11226888	ENSG00000130164.7	ENST00000559340.1
exon_skip_302381	19	11226769:11226888:11227534:11227674:11230767:11230909	11227534:11227674	ENSG00000130164.7	ENST00000558013.1,ENST00000545707.1,ENST00000558518.1,ENST00000252444.5,ENST00000557933.1,ENST00000455727.2,ENST00000535915.1
exon_skip_302384	19	11227534:11227674:11230767:11230909:11233849:11234020	11230767:11230909	ENSG00000130164.7	ENST00000545707.1
exon_skip_302387	19	11230767:11230909:11231045:11231198:11233849:11234020	11231045:11231198	ENSG00000130164.7	ENST00000558013.1,ENST00000558518.1,ENST00000252444.5,ENST00000557933.1,ENST00000455727.2,ENST00000535915.1
exon_skip_302390	19	11231045:11231198:11233849:11234020:11238683:11238761	11233849:11234020	ENSG00000130164.7	ENST00000558013.1,ENST00000558518.1,ENST00000252444.5,ENST00000557933.1,ENST00000455727.2,ENST00000535915.1
exon_skip_302396	19	11233851:11234020:11238683:11238761:11240188:11240346	11238683:11238761	ENSG00000130164.7	ENST00000558013.1,ENST00000545707.1,ENST00000558518.1,ENST00000252444.5,ENST00000455727.2,ENST00000535915.1
exon_skip_302398	19	11238683:11238761:11240188:11240346:11241956:11242160	11240188:11240346	ENSG00000130164.7	ENST00000545707.1,ENST00000558518.1,ENST00000252444.5,ENST00000455727.2,ENST00000535915.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for LDLR

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_302365	19	11200153:11200291:11210898:11211021:11213339:11213462	11210898:11211021	ENSG00000130164.7	ENST00000557933.1,ENST00000557958.1,ENST00000455727.2,ENST00000545707.1,ENST00000558013.1
exon_skip_302366	19	11210898:11211021:11213339:11213462:11215895:11216276	11213339:11213462	ENSG00000130164.7	ENST00000558518.1,ENST00000557933.1,ENST00000558013.1,ENST00000252444.5
exon_skip_302367	19	11213339:11213462:11215895:11216276:11217240:11217363	11215895:11216276	ENSG00000130164.7	ENST00000558518.1,ENST00000557933.1,ENST00000558013.1,ENST00000252444.5
exon_skip_302368	19	11213339:11213462:11217240:11217363:11218067:11218185	11217240:11217363	ENSG00000130164.7	ENST00000545707.1
exon_skip_302370	19	11217240:11217363:11218067:11218190:11221327:11221447	11218067:11218190	ENSG00000130164.7	ENST00000558518.1,ENST00000557933.1,ENST00000535915.1,ENST00000545707.1,ENST00000558013.1,ENST00000252444.5
exon_skip_302372	19	11218067:11218190:11221327:11221447:11222189:11222311	11221327:11221447	ENSG00000130164.7	ENST00000558518.1,ENST00000557933.1,ENST00000455727.2,ENST00000535915.1,ENST00000545707.1,ENST00000558013.1,ENST00000252444.5
exon_skip_302374	19	11221388:11221447:11222189:11222315:11223953:11224125	11222189:11222315	ENSG00000130164.7	ENST00000558518.1,ENST00000557933.1,ENST00000455727.2,ENST00000535915.1,ENST00000545707.1,ENST00000558013.1,ENST00000252444.5,ENST00000560173.1
exon_skip_302375	19	11222189:11222315:11223953:11224125:11224210:11224300	11223953:11224125	ENSG00000130164.7	ENST00000558518.1,ENST00000557933.1,ENST00000455727.2,ENST00000535915.1,ENST00000545707.1,ENST00000558013.1,ENST00000252444.5,ENST00000560467.1
exon_skip_302378	19	11224210:11224438:11226769:11226888:11227534:11227674	11226769:11226888	ENSG00000130164.7	ENST00000558518.1,ENST00000557933.1,ENST00000455727.2,ENST00000535915.1,ENST00000545707.1,ENST00000558013.1,ENST00000252444.5
exon_skip_302379	19	11224210:11224438:11226769:11226888:11230767:11230909	11226769:11226888	ENSG00000130164.7	ENST00000559340.1
exon_skip_302381	19	11226769:11226888:11227534:11227674:11230767:11230909	11227534:11227674	ENSG00000130164.7	ENST00000558518.1,ENST00000557933.1,ENST00000455727.2,ENST00000535915.1,ENST00000545707.1,ENST00000558013.1,ENST00000252444.5
exon_skip_302384	19	11227534:11227674:11230767:11230909:11233849:11234020	11230767:11230909	ENSG00000130164.7	ENST00000545707.1
exon_skip_302387	19	11230767:11230909:11231045:11231198:11233849:11234020	11231045:11231198	ENSG00000130164.7	ENST00000558518.1,ENST00000557933.1,ENST00000455727.2,ENST00000535915.1,ENST00000558013.1,ENST00000252444.5
exon_skip_302390	19	11231045:11231198:11233849:11234020:11238683:11238761	11233849:11234020	ENSG00000130164.7	ENST00000558518.1,ENST00000557933.1,ENST00000455727.2,ENST00000535915.1,ENST00000558013.1,ENST00000252444.5
exon_skip_302396	19	11233851:11234020:11238683:11238761:11240188:11240346	11238683:11238761	ENSG00000130164.7	ENST00000558518.1,ENST00000455727.2,ENST00000535915.1,ENST00000545707.1,ENST00000558013.1,ENST00000252444.5
exon_skip_302397	19	11238683:11238761:11240126:11240346:11241956:11242160	11240126:11240346	ENSG00000130164.7	ENST00000557933.1
exon_skip_302398	19	11238683:11238761:11240188:11240346:11241956:11242160	11240188:11240346	ENSG00000130164.7	ENST00000558518.1,ENST00000455727.2,ENST00000535915.1,ENST00000545707.1,ENST00000252444.5

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 LDLR

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
ENST00000558518	11223953	11224125	Frame-shift
ENST00000558518	11226769	11226888	Frame-shift
ENST00000558518	11227534	11227674	Frame-shift
ENST00000558518	11240188	11240346	Frame-shift
ENST00000558518	11213339	11213462	In-frame
ENST00000558518	11215895	11216276	In-frame
ENST00000558518	11218067	11218190	In-frame
ENST00000558518	11221327	11221447	In-frame
ENST00000558518	11222189	11222315	In-frame
ENST00000558518	11231045	11231198	In-frame
ENST00000558518	11233849	11234020	In-frame
ENST00000558518	11238683	11238761	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
ENST00000558518	11223953	11224125	Frame-shift
ENST00000558518	11226769	11226888	Frame-shift
ENST00000558518	11227534	11227674	Frame-shift
ENST00000558518	11240188	11240346	Frame-shift
ENST00000558518	11213339	11213462	In-frame
ENST00000558518	11215895	11216276	In-frame
ENST00000558518	11218067	11218190	In-frame
ENST00000558518	11221327	11221447	In-frame
ENST00000558518	11222189	11222315	In-frame
ENST00000558518	11231045	11231198	In-frame
ENST00000558518	11233849	11234020	In-frame
ENST00000558518	11238683	11238761	In-frame

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

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
ENST00000558518	3634	860	11213339	11213462	378	500	63	104
ENST00000558518	3634	860	11215895	11216276	501	881	104	231
ENST00000558518	3634	860	11218067	11218190	1005	1127	272	313
ENST00000558518	3634	860	11221327	11221447	1128	1247	313	353
ENST00000558518	3634	860	11222189	11222315	1248	1373	353	395
ENST00000558518	3634	860	11231045	11231198	2175	2327	662	713
ENST00000558518	3634	860	11233849	11234020	2328	2498	713	770
ENST00000558518	3634	860	11238683	11238761	2499	2576	770	796

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
ENST00000558518	3634	860	11213339	11213462	378	500	63	104
ENST00000558518	3634	860	11215895	11216276	501	881	104	231
ENST00000558518	3634	860	11218067	11218190	1005	1127	272	313
ENST00000558518	3634	860	11221327	11221447	1128	1247	313	353
ENST00000558518	3634	860	11222189	11222315	1248	1373	353	395
ENST00000558518	3634	860	11231045	11231198	2175	2327	662	713
ENST00000558518	3634	860	11233849	11234020	2328	2498	713	770
ENST00000558518	3634	860	11238683	11238761	2499	2576	770	796

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 LDLR

- 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
KIRP	TCGA-UZ-A9PK-01	exon_skip_302368	11217241	11217363	11217362	11217363	Frame_Shift_Del	TG	-	p.272_272del
LIHC	TCGA-DD-A1EG-01	exon_skip_302375	11223954	11224125	11224036	11224036	Frame_Shift_Del	C	-	p.I423fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_302381	11227535	11227674	11227603	11227603	Frame_Shift_Del	G	-	p.G593fs
COAD	TCGA-A6-6780-01	exon_skip_302384	11230768	11230909	11230865	11230865	Frame_Shift_Del	C	-	p.S607fs
STAD	TCGA-CD-8536-01	exon_skip_302390	11233850	11234020	11233946	11233946	Frame_Shift_Del	T	-	p.V746fs
LUAD	TCGA-67-3771-01	exon_skip_302396	11238684	11238761	11238690	11238691	Frame_Shift_Del	GC	-	p.G773fs
UCEC	TCGA-D1-A177-01	exon_skip_302367	11215896	11216276	11216181	11216182	Frame_Shift_Ins	-	C	p.E201fs
UCEC	TCGA-D1-A177-01	exon_skip_302367	11215896	11216276	11216181	11216182	Frame_Shift_Ins	-	C	p.F200fs
KICH	TCGA-KL-8341-01	exon_skip_302365	11210899	11211021	11210912	11210912	Nonsense_Mutation	C	A	p.C27X
BLCA	TCGA-DK-A3IQ-01	exon_skip_302366	11213340	11213462	11213402	11213402	Nonsense_Mutation	C	T	p.Q85*
BLCA	TCGA-FD-A6TD-01	exon_skip_302368	11217241	11217363	11217345	11217345	Nonsense_Mutation	G	T	p.E267*
STAD	TCGA-CG-4304-01	exon_skip_302370	11218068	11218190	11218184	11218184	Nonsense_Mutation	G	T	p.E312*
BLCA	TCGA-ZF-AA4X-01	exon_skip_302381	11227535	11227674	11227586	11227586	Nonsense_Mutation	C	G	p.S586*
BLCA	TCGA-UY-A78K-01	exon_skip_302381	11227535	11227674	11227636	11227636	Nonsense_Mutation	A	T	p.K603*
UCEC	TCGA-AP-A051-01	exon_skip_302398	11240189	11240346	11240348	11240348	Splice_Site	T	C	e17+2

- 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
SNU175_LARGE_INTESTINE	11230768	11230909	11230805	11230805	Frame_Shift_Del	T	-	p.I628fs
DOV13_OVARY	11240189	11240346	11240334	11240336	In_Frame_Del	CAG	-	p.S846del
HS294T_SKIN	11240189	11240346	11240334	11240336	In_Frame_Del	CAG	-	p.S846del
MM426_SKIN	11210899	11211021	11210910	11210910	Missense_Mutation	T	C	p.C27R
LC41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11210899	11211021	11210922	11210922	Missense_Mutation	G	A	p.E31K
SARC9371_BONE	11213340	11213462	11213358	11213358	Missense_Mutation	C	T	p.S70F
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11213340	11213462	11213394	11213394	Missense_Mutation	G	A	p.C82Y
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11213340	11213462	11213399	11213399	Missense_Mutation	C	A	p.P84T
LS1034_LARGE_INTESTINE	11215896	11216276	11216013	11216013	Missense_Mutation	C	T	p.P144L
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11215896	11216276	11216025	11216025	Missense_Mutation	G	A	p.C148Y
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	11215896	11216276	11216064	11216064	Missense_Mutation	T	C	p.I161T
IPC298_SKIN	11215896	11216276	11216066	11216066	Missense_Mutation	C	T	p.P162S
MM426_SKIN	11215896	11216276	11216105	11216105	Missense_Mutation	G	A	p.D175N
SW948_LARGE_INTESTINE	11215896	11216276	11216114	11216114	Missense_Mutation	G	A	p.D178N
22RV1_PROSTATE	11215896	11216276	11216172	11216172	Missense_Mutation	G	A	p.C197Y
KYSE30_OESOPHAGUS	11215896	11216276	11216259	11216259	Missense_Mutation	C	T	p.S226F
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11215896	11216276	11216267	11216267	Missense_Mutation	G	A	p.E229K
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11217241	11217363	11217255	11217255	Missense_Mutation	C	T	p.R237C
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11217241	11217363	11217279	11217279	Missense_Mutation	G	T	p.D245Y
BT474_BREAST	11218068	11218190	11218096	11218096	Missense_Mutation	C	G	p.F282L
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11218068	11218190	11218109	11218109	Missense_Mutation	G	A	p.G287S
MEWO_SKIN	11218068	11218190	11218112	11218112	Missense_Mutation	G	A	p.E288K
RCCMF_KIDNEY	11221328	11221447	11221378	11221378	Missense_Mutation	G	A	p.D331N
MEWO_SKIN	11223954	11224125	11224037	11224037	Missense_Mutation	C	T	p.P424S
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11226770	11226888	11226823	11226823	Missense_Mutation	T	G	p.L547R
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11227535	11227674	11227550	11227550	Missense_Mutation	G	A	p.R574H
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11227535	11227674	11227561	11227561	Missense_Mutation	G	C	p.V578L
NBSUSSR_AUTONOMIC_GANGLIA	11227535	11227674	11227571	11227571	Missense_Mutation	A	G	p.K581R
RD_SOFT_TISSUE	11227535	11227674	11227594	11227594	Missense_Mutation	G	T	p.D589Y
SNU1040_LARGE_INTESTINE	11227535	11227674	11227603	11227603	Missense_Mutation	G	A	p.G592R
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11230768	11230909	11230771	11230771	Missense_Mutation	A	G	p.K617E
NCIH2004RT_SOFT_TISSUE	11230768	11230909	11230850	11230850	Missense_Mutation	C	T	p.A643V
SCC4_UPPER_AERODIGESTIVE_TRACT	11230768	11230909	11230888	11230888	Missense_Mutation	C	T	p.H656Y
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11230768	11230909	11230892	11230892	Missense_Mutation	A	G	p.N657S
HCET_UPPER_AERODIGESTIVE_TRACT	11230768	11230909	11230907	11230907	Missense_Mutation	G	C	p.R662T
SNGM_ENDOMETRIUM	11231046	11231198	11231147	11231147	Missense_Mutation	G	T	p.A697S
JHESOAD1_OESOPHAGUS	11231046	11231198	11231177	11231177	Missense_Mutation	G	T	p.D707Y
SNU46_UPPER_AERODIGESTIVE_TRACT	11233850	11234020	11233867	11233867	Missense_Mutation	G	A	p.A720T
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11233850	11234020	11233867	11233867	Missense_Mutation	G	A	p.A720T
HCC1438_LUNG	11233850	11234020	11233879	11233879	Missense_Mutation	A	T	p.T724S
HDQP1_BREAST	11233850	11234020	11233898	11233898	Missense_Mutation	A	T	p.K730M
SF126_CENTRAL_NERVOUS_SYSTEM	11233850	11234020	11233991	11233991	Missense_Mutation	C	G	p.T761R
HEC6_ENDOMETRIUM	11238684	11238761	11238758	11238758	Missense_Mutation	A	G	p.I796V
INA6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11240189	11240346	11240202	11240202	Missense_Mutation	C	G	p.F801L
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11240189	11240346	11240212	11240212	Missense_Mutation	G	A	p.G805R
HEC108_ENDOMETRIUM	11240189	11240346	11240339	11240339	Missense_Mutation	A	G	p.Y847C
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11215896	11216276	11216076	11216076	Nonsense_Mutation	G	A	p.W165*
MDAMB415_BREAST	11226770	11226888	11226864	11226864	Nonsense_Mutation	C	T	p.Q561*
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	11218068	11218190	11218069	11218069	Splice_Site	G	A	p.V273V
KALS1_CENTRAL_NERVOUS_SYSTEM	11218068	11218190	11218189	11218189	Splice_Site	C	T	p.C313C
TE4_OESOPHAGUS	11218068	11218190	11218189	11218189	Splice_Site	C	T	p.C313C
ESS1_ENDOMETRIUM	11218068	11218190	11218190	11218190	Splice_Site	G	A	p.G314R

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

sQTL information located at the skipped exons.

Exon skip ID	Chromosome	Three exons	Skippped exon	ENST	Cancer type	SNP id	Location	DNA change (ref/var)	P-value
exon_skip_302384	19	11227534:11227674:11230767:11230909:11233849:11234020	11230767:11230909	ENST00000545707.1	BRCA	rs5925	chr19:11230881	A/G	1.71e-03
exon_skip_302378	19	11224210:11224438:11226769:11226888:11227534:11227674	11226769:11226888	ENST00000558013.1,ENST00000545707.1,ENST00000558518.1,ENST00000252444.5,ENST00000557933.1,ENST00000455727.2,ENST00000535915.1	BRCA	rs5929	chr19:11226800	C/T	3.27e-04
exon_skip_302378	19	11224210:11224438:11226769:11226888:11227534:11227674	11226769:11226888	ENST00000558013.1,ENST00000545707.1,ENST00000558518.1,ENST00000252444.5,ENST00000557933.1,ENST00000455727.2,ENST00000535915.1	STAD	rs5929	chr19:11226800	C/T	1.17e-03
exon_skip_302379	19	11224210:11224438:11226769:11226888:11230767:11230909	11226769:11226888	ENST00000559340.1	BRCA	rs5929	chr19:11226800	C/T	3.27e-04
exon_skip_302379	19	11224210:11224438:11226769:11226888:11230767:11230909	11226769:11226888	ENST00000559340.1	STAD	rs5929	chr19:11226800	C/T	1.17e-03

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

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

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RelatedDrugs for LDLR

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
	P01130	DB00707	Porfimer sodium	Low-density lipoprotein receptor	small molecule	approved\|investigational

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RelatedDiseases for LDLR

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
LDLR	C0745103	Hyperlipoproteinemia Type IIa	32	CTD_human;ORPHANET;UNIPROT
LDLR	C0020445	Hypercholesterolemia, Familial	6	CTD_human;HPO
LDLR	C0004153	Atherosclerosis	4	CTD_human
LDLR	C0020443	Hypercholesterolemia	4	CTD_human;HPO
LDLR	C0400966	Non-alcoholic Fatty Liver Disease	3	CTD_human
LDLR	C0020473	Hyperlipidemia	2	CTD_human;HPO
LDLR	C1956346	Coronary Artery Disease	2	CTD_human
LDLR	C0010068	Coronary heart disease	1	CTD_human
LDLR	C0015695	Fatty Liver	1	CTD_human
LDLR	C0020507	Hyperplasia	1	CTD_human
LDLR	C0028754	Obesity	1	CTD_human
LDLR	C0034362	Q Fever	1	CTD_human
LDLR	C0085762	Alcohol abuse	1	PSYGENET
LDLR	C0242339	Dyslipidemias	1	CTD_human
LDLR	C1862939	AMYOTROPHIC LATERAL SCLEROSIS 1	1	CTD_human

	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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