ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for NR1H3

Gene summary

Gene information	Gene symbol	NR1H3
	Gene ID	10062
	Gene name	nuclear receptor subfamily 1 group H member 3
	Synonyms	LXR-a\|LXRA\|RLD-1
	Cytomap	11p11.2
	Type of gene	protein-coding
	Description	oxysterols receptor LXR-alphaliver X nuclear receptor alpha variant 1
	Modification date	20200320
	UniProtAcc	B4DXU5, B5MBY7, B6ZGS8, C9J2C8, C9J4R0, C9JBS2, C9JCS0, C9JEC2, C9JJ16, C9JTS4, E9PID2, E9PLL4, E9PPA1, F1D8N1, F8WC63, F8WEY6, Q13133,
	Context	- 24278306(Effects of NR1H3 genetic variation on the expression of liver X receptor alpha and the progression of Alzheimer's disease)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
NR1H3	GO:0010870	positive regulation of receptor biosynthetic process	18511497
NR1H3	GO:0010875	positive regulation of cholesterol efflux	16141411\|19481530
NR1H3	GO:0032376	positive regulation of cholesterol transport	16141411
NR1H3	GO:0032570	response to progesterone	16141411
NR1H3	GO:0034145	positive regulation of toll-like receptor 4 signaling pathway	18511497
NR1H3	GO:0042632	cholesterol homeostasis	18511497
NR1H3	GO:0045893	positive regulation of transcription, DNA-templated	25661920
NR1H3	GO:0045944	positive regulation of transcription by RNA polymerase II	16141411\|18511497\|19481530\|20219900\|20837115
NR1H3	GO:0071222	cellular response to lipopolysaccharide	18511497
NR1H3	GO:2000325	regulation of nuclear receptor transcription coactivator activity	19481530

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Gene structures and expression levels for NR1H3

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.

ENSG00000025434

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
CB	DOWN	ENST00000494018.1	NR1H3-225:retained_intron:NR1H3	2.987480e+01	-8.279934e-01	5.017986e-07	8.352732e-06
TC	UP	ENST00000457932.5	NR1H3-214:protein_coding:NR1H3	1.911739e+00	1.332647e+00	7.458932e-05	1.279966e-03

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 NR1H3

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_104445	chr11	47248956:47248999:47259791:47259979:47261241:47261280	47259791:47259979
exon_skip_134678	chr11	47258001:47258129:47259180:47259259:47259791:47259979	47259180:47259259
exon_skip_142459	chr11	47261241:47261449:47261547:47262018:47267913:47268008	47261547:47262018
exon_skip_148528	chr11	47258001:47258129:47259101:47259259:47259791:47259823	47259101:47259259
exon_skip_165509	chr11	47259185:47259259:47259361:47259606:47259791:47259823	47259361:47259606
exon_skip_175780	chr11	47258001:47258129:47259180:47259259:47259791:47259823	47259180:47259259
exon_skip_17997	chr11	47261241:47261449:47261919:47262018:47267913:47268008	47261919:47262018
exon_skip_199855	chr11	47261919:47262018:47267913:47268026:47268261:47268355	47267913:47268026
exon_skip_211051	chr11	47258106:47258165:47259180:47259259:47259791:47259823	47259180:47259259
exon_skip_227652	chr11	47259180:47259259:47259361:47259606:47259791:47259823	47259361:47259606
exon_skip_232993	chr11	47259791:47259979:47260409:47260675:47261241:47261280	47260409:47260675
exon_skip_245573	chr11	47257963:47258165:47259185:47259259:47259791:47259823	47259185:47259259
exon_skip_255149	chr11	47258111:47258129:47259101:47259259:47259791:47259823	47259101:47259259
exon_skip_264873	chr11	47259791:47259979:47261241:47261449:47261919:47261974	47261241:47261449
exon_skip_283782	chr11	47259791:47259979:47260551:47260675:47261241:47261280	47260551:47260675
exon_skip_30850	chr11	47258111:47258129:47259180:47259259:47259791:47259823	47259180:47259259
exon_skip_36817	chr11	47248956:47248999:47259180:47259259:47259791:47259823	47259180:47259259
exon_skip_4927	chr11	47257971:47258129:47259101:47259259:47259791:47259823	47259101:47259259
exon_skip_86650	chr11	47261241:47261449:47261547:47261726:47261919:47261974	47261547:47261726

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 NR1H3

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
ENST00000441012	47259180	47259259	5CDS-5UTR
ENST00000441012	47260409	47260675	In-frame
ENST00000467728	47260409	47260675	In-frame
ENST00000441012	47261547	47261726	In-frame
ENST00000467728	47261547	47261726	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
ENST00000441012	47260409	47260675	In-frame
ENST00000467728	47260409	47260675	In-frame
ENST00000441012	47261547	47261726	In-frame
ENST00000467728	47261547	47261726	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
ENST00000441012	47259180	47259259	5CDS-5UTR
ENST00000441012	47260409	47260675	In-frame
ENST00000467728	47260409	47260675	In-frame
ENST00000441012	47261547	47261726	In-frame
ENST00000467728	47261547	47261726	In-frame
ENST00000441012	47267913	47268026	In-frame
ENST00000467728	47267913	47268026	In-frame

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Infer the effects of exon skipping event on protein functional features for NR1H3

p-ENSG00000025434_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
ENST00000441012	1654	447	47260409	47260675	439	704	78	166
ENST00000467728	2748	447	47260409	47260675	1472	1737	78	166
ENST00000441012	1654	447	47261547	47261726	915	1093	236	296
ENST00000467728	2748	447	47261547	47261726	1948	2126	236	296

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
ENST00000441012	1654	447	47260409	47260675	439	704	78	166
ENST00000467728	2748	447	47260409	47260675	1472	1737	78	166
ENST00000441012	1654	447	47261547	47261726	915	1093	236	296
ENST00000467728	2748	447	47261547	47261726	1948	2126	236	296

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
ENST00000441012	1654	447	47260409	47260675	439	704	78	166
ENST00000467728	2748	447	47260409	47260675	1472	1737	78	166
ENST00000441012	1654	447	47261547	47261726	915	1093	236	296
ENST00000467728	2748	447	47261547	47261726	1948	2126	236	296
ENST00000441012	1654	447	47267913	47268026	1195	1307	330	367
ENST00000467728	2748	447	47267913	47268026	2228	2340	330	367

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
Q13133	78	166	1	447	Chain	ID=PRO_0000053535;Note=Oxysterols receptor LXR-alpha
Q13133	78	166	1	447	Chain	ID=PRO_0000053535;Note=Oxysterols receptor LXR-alpha
Q13133	78	166	95	170	DNA binding	Note=Nuclear receptor;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00407
Q13133	78	166	95	170	DNA binding	Note=Nuclear receptor;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00407
Q13133	78	166	1	96	Region	Note=Transactivation AF-1%3B required for ligand-independent transactivation function;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25661920;Dbxref=PMID:25661920
Q13133	78	166	1	96	Region	Note=Transactivation AF-1%3B required for ligand-independent transactivation function;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25661920;Dbxref=PMID:25661920
Q13133	78	166	98	118	Zinc finger	Note=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00407
Q13133	78	166	98	118	Zinc finger	Note=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00407
Q13133	78	166	134	158	Zinc finger	Note=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00407
Q13133	78	166	134	158	Zinc finger	Note=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00407
Q13133	236	296	237	296	Alternative sequence	ID=VSP_003664;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q13133	236	296	237	296	Alternative sequence	ID=VSP_003664;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q13133	236	296	1	447	Chain	ID=PRO_0000053535;Note=Oxysterols receptor LXR-alpha
Q13133	236	296	1	447	Chain	ID=PRO_0000053535;Note=Oxysterols receptor LXR-alpha
Q13133	236	296	209	447	Domain	Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01189
Q13133	236	296	209	447	Domain	Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01189
Q13133	236	296	247	272	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HJS
Q13133	236	296	247	272	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HJS
Q13133	236	296	278	280	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HJS
Q13133	236	296	278	280	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HJS
Q13133	236	296	283	304	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HJS
Q13133	236	296	283	304	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HJS
Q13133	236	296	268	273	Mutagenesis	Note=Abolishes interaction with NCOA2 without affecting interaction with GPS2%3B when associated with 438-A-A-439. IVDFAK->EVDFAE;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19481530;Dbxref=PMID:19481530
Q13133	236	296	268	273	Mutagenesis	Note=Abolishes interaction with NCOA2 without affecting interaction with GPS2%3B when associated with 438-A-A-439. IVDFAK->EVDFAE;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19481530;Dbxref=PMID:19481530
Q13133	236	296	205	447	Region	Note=Transactivation AF-2%3B required for ligand-dependent transactivation function%3B mediates interaction with CCAR2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25661920;Dbxref=PMID:25661920
Q13133	236	296	205	447	Region	Note=Transactivation AF-2%3B required for ligand-dependent transactivation function%3B mediates interaction with CCAR2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25661920;Dbxref=PMID:25661920

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
Q13133	78	166	1	447	Chain	ID=PRO_0000053535;Note=Oxysterols receptor LXR-alpha
Q13133	78	166	1	447	Chain	ID=PRO_0000053535;Note=Oxysterols receptor LXR-alpha
Q13133	78	166	95	170	DNA binding	Note=Nuclear receptor;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00407
Q13133	78	166	95	170	DNA binding	Note=Nuclear receptor;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00407
Q13133	78	166	1	96	Region	Note=Transactivation AF-1%3B required for ligand-independent transactivation function;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25661920;Dbxref=PMID:25661920
Q13133	78	166	1	96	Region	Note=Transactivation AF-1%3B required for ligand-independent transactivation function;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25661920;Dbxref=PMID:25661920
Q13133	78	166	98	118	Zinc finger	Note=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00407
Q13133	78	166	98	118	Zinc finger	Note=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00407
Q13133	78	166	134	158	Zinc finger	Note=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00407
Q13133	78	166	134	158	Zinc finger	Note=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00407
Q13133	236	296	237	296	Alternative sequence	ID=VSP_003664;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q13133	236	296	237	296	Alternative sequence	ID=VSP_003664;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q13133	236	296	1	447	Chain	ID=PRO_0000053535;Note=Oxysterols receptor LXR-alpha
Q13133	236	296	1	447	Chain	ID=PRO_0000053535;Note=Oxysterols receptor LXR-alpha
Q13133	236	296	209	447	Domain	Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01189
Q13133	236	296	209	447	Domain	Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01189
Q13133	236	296	247	272	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HJS
Q13133	236	296	247	272	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HJS
Q13133	236	296	278	280	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HJS
Q13133	236	296	278	280	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HJS
Q13133	236	296	283	304	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HJS
Q13133	236	296	283	304	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HJS
Q13133	236	296	268	273	Mutagenesis	Note=Abolishes interaction with NCOA2 without affecting interaction with GPS2%3B when associated with 438-A-A-439. IVDFAK->EVDFAE;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19481530;Dbxref=PMID:19481530
Q13133	236	296	268	273	Mutagenesis	Note=Abolishes interaction with NCOA2 without affecting interaction with GPS2%3B when associated with 438-A-A-439. IVDFAK->EVDFAE;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19481530;Dbxref=PMID:19481530
Q13133	236	296	205	447	Region	Note=Transactivation AF-2%3B required for ligand-dependent transactivation function%3B mediates interaction with CCAR2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25661920;Dbxref=PMID:25661920
Q13133	236	296	205	447	Region	Note=Transactivation AF-2%3B required for ligand-dependent transactivation function%3B mediates interaction with CCAR2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25661920;Dbxref=PMID:25661920

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
Q13133	78	166	1	447	Chain	ID=PRO_0000053535;Note=Oxysterols receptor LXR-alpha
Q13133	78	166	1	447	Chain	ID=PRO_0000053535;Note=Oxysterols receptor LXR-alpha
Q13133	78	166	95	170	DNA binding	Note=Nuclear receptor;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00407
Q13133	78	166	95	170	DNA binding	Note=Nuclear receptor;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00407
Q13133	78	166	1	96	Region	Note=Transactivation AF-1%3B required for ligand-independent transactivation function;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25661920;Dbxref=PMID:25661920
Q13133	78	166	1	96	Region	Note=Transactivation AF-1%3B required for ligand-independent transactivation function;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25661920;Dbxref=PMID:25661920
Q13133	78	166	98	118	Zinc finger	Note=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00407
Q13133	78	166	98	118	Zinc finger	Note=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00407
Q13133	78	166	134	158	Zinc finger	Note=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00407
Q13133	78	166	134	158	Zinc finger	Note=NR C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00407
Q13133	236	296	237	296	Alternative sequence	ID=VSP_003664;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q13133	236	296	237	296	Alternative sequence	ID=VSP_003664;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q13133	236	296	1	447	Chain	ID=PRO_0000053535;Note=Oxysterols receptor LXR-alpha
Q13133	236	296	1	447	Chain	ID=PRO_0000053535;Note=Oxysterols receptor LXR-alpha
Q13133	236	296	209	447	Domain	Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01189
Q13133	236	296	209	447	Domain	Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01189
Q13133	236	296	247	272	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HJS
Q13133	236	296	247	272	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HJS
Q13133	236	296	278	280	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HJS
Q13133	236	296	278	280	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HJS
Q13133	236	296	283	304	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HJS
Q13133	236	296	283	304	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HJS
Q13133	236	296	268	273	Mutagenesis	Note=Abolishes interaction with NCOA2 without affecting interaction with GPS2%3B when associated with 438-A-A-439. IVDFAK->EVDFAE;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19481530;Dbxref=PMID:19481530
Q13133	236	296	268	273	Mutagenesis	Note=Abolishes interaction with NCOA2 without affecting interaction with GPS2%3B when associated with 438-A-A-439. IVDFAK->EVDFAE;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19481530;Dbxref=PMID:19481530
Q13133	236	296	205	447	Region	Note=Transactivation AF-2%3B required for ligand-dependent transactivation function%3B mediates interaction with CCAR2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25661920;Dbxref=PMID:25661920
Q13133	236	296	205	447	Region	Note=Transactivation AF-2%3B required for ligand-dependent transactivation function%3B mediates interaction with CCAR2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25661920;Dbxref=PMID:25661920
Q13133	330	367	1	447	Chain	ID=PRO_0000053535;Note=Oxysterols receptor LXR-alpha
Q13133	330	367	1	447	Chain	ID=PRO_0000053535;Note=Oxysterols receptor LXR-alpha
Q13133	330	367	209	447	Domain	Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01189
Q13133	330	367	209	447	Domain	Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01189
Q13133	330	367	333	349	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HJS
Q13133	330	367	333	349	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HJS
Q13133	330	367	353	364	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HJS
Q13133	330	367	353	364	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HJS
Q13133	330	367	205	447	Region	Note=Transactivation AF-2%3B required for ligand-dependent transactivation function%3B mediates interaction with CCAR2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25661920;Dbxref=PMID:25661920
Q13133	330	367	205	447	Region	Note=Transactivation AF-2%3B required for ligand-dependent transactivation function%3B mediates interaction with CCAR2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25661920;Dbxref=PMID:25661920

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3'-UTR located exon skipping events that lost miRNA binding sites in NR1H3

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 NR1H3

- 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 NR1H3

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

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NR1H3

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 NR1H3

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

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RelatedDrugs for NR1H3

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

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
Q13133	approved\|investigational	DB11994	Diacerein	small molecule	Q13133

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RelatedDiseases for NR1H3

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 NR1H3

Gene structures and expression levels for NR1H3

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for NR1H3

Open reading frame (ORF) annotation in the exon skipping event for NR1H3

Infer the effects of exon skipping event on protein functional features for NR1H3

3'-UTR located exon skipping events that lost miRNA binding sites in NR1H3

SNVs in the skipped exons for NR1H3

AD stage-associated exon skippint events for NR1H3

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NR1H3

Correlation with RNA binding proteins (RBPs) for NR1H3

RelatedDrugs for NR1H3

RelatedDiseases for NR1H3