ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for THRB

Gene summary

Gene information	Gene symbol	THRB
	Gene ID	7068
	Gene name	thyroid hormone receptor beta
	Synonyms	C-ERBA-2\|C-ERBA-BETA\|ERBA2\|GRTH\|NR1A2\|PRTH\|THR1\|THRB1\|THRB2
	Cytomap	3p24.2
	Type of gene	protein-coding
	Description	thyroid hormone receptor betanuclear receptor subfamily 1 group A member 2oncogene ERBA2thyroid hormone nuclear receptor beta variant 1thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)
	Modification date	20200313
	UniProtAcc	A0A024R2I8, A0A0C4DG57, A0A0R5RI69, A0A0R5RI71, A0A0R5RI75, A0A0R5RI99, A0A0R5RIB5, A0A2R8YF24, C9JHC2, C9JJM3, C9JNQ4, C9JTN1, C9JZS5, E0XAW8, J3KR21, P10828, W6JGS6,
	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 THRB

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.

ENSG00000151090

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	UP	ENST00000413780.5	THRB-204:protein_coding:THRB	1.806532e+00	8.641280e-01	3.202556e-03	1.361490e-02

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 THRB

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_114524	chr3	24228960:24229001:24297226:24297371:24337300:24337371	24297226:24297371
exon_skip_124147	chr3	24190168:24190334:24228938:24229001:24318358:24318494	24228938:24229001
exon_skip_126800	chr3	24228960:24229001:24237991:24238081:24337300:24337371	24237991:24238081
exon_skip_162106	chr3	24337300:24337371:24348558:24348614:24494795:24494815	24348558:24348614
exon_skip_163482	chr3	24146718:24146822:24152390:24152490:24190074:24190334	24152390:24152490
exon_skip_213086	chr3	24190168:24190334:24297226:24297371:24337300:24337371	24297226:24297371
exon_skip_26048	chr3	24297226:24297323:24318358:24318494:24337300:24337371	24318358:24318494
exon_skip_279063	chr3	24143501:24143706:24146675:24146822:24152390:24152490	24146675:24146822
exon_skip_290152	chr3	24228960:24229001:24318358:24318494:24337300:24337371	24318358:24318494
exon_skip_37800	chr3	24190168:24190334:24228938:24229001:24337300:24337371	24228938:24229001
exon_skip_40955	chr3	24190168:24190334:24228938:24229001:24297226:24297323	24228938:24229001
exon_skip_54761	chr3	24228960:24229001:24297226:24297323:24318358:24318494	24297226:24297323
exon_skip_63703	chr3	24152463:24152490:24190074:24190334:24228938:24229001	24190074:24190334

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 THRB

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
ENST00000356447	24228938	24229001	3UTR-3CDS
ENST00000396671	24228938	24229001	3UTR-3CDS
ENST00000416420	24228938	24229001	3UTR-3CDS
ENST00000642307	24228938	24229001	3UTR-3CDS
ENST00000643772	24228938	24229001	3UTR-3CDS
ENST00000645139	24228938	24229001	3UTR-3CDS
ENST00000646209	24228938	24229001	3UTR-3CDS
ENST00000646432	24228938	24229001	3UTR-3CDS
ENST00000644321	24237991	24238081	3UTR-3UTR
ENST00000356447	24297226	24297371	3UTR-3UTR
ENST00000416420	24297226	24297323	3UTR-3UTR
ENST00000646209	24297226	24297371	3UTR-3UTR
ENST00000416420	24318358	24318494	3UTR-3UTR
ENST00000356447	24146675	24146822	Frame-shift
ENST00000396671	24146675	24146822	Frame-shift
ENST00000416420	24146675	24146822	Frame-shift
ENST00000642307	24146675	24146822	Frame-shift
ENST00000643772	24146675	24146822	Frame-shift
ENST00000644321	24146675	24146822	Frame-shift
ENST00000645139	24146675	24146822	Frame-shift
ENST00000646209	24146675	24146822	Frame-shift
ENST00000646432	24146675	24146822	Frame-shift
ENST00000356447	24152390	24152490	Frame-shift
ENST00000396671	24152390	24152490	Frame-shift
ENST00000416420	24152390	24152490	Frame-shift
ENST00000642307	24152390	24152490	Frame-shift
ENST00000643772	24152390	24152490	Frame-shift
ENST00000644321	24152390	24152490	Frame-shift
ENST00000645139	24152390	24152490	Frame-shift
ENST00000646209	24152390	24152490	Frame-shift
ENST00000646432	24152390	24152490	Frame-shift
ENST00000356447	24190074	24190334	In-frame
ENST00000396671	24190074	24190334	In-frame
ENST00000416420	24190074	24190334	In-frame
ENST00000642307	24190074	24190334	In-frame
ENST00000643772	24190074	24190334	In-frame
ENST00000644321	24190074	24190334	In-frame
ENST00000645139	24190074	24190334	In-frame
ENST00000646209	24190074	24190334	In-frame
ENST00000646432	24190074	24190334	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
ENST00000356447	24228938	24229001	3UTR-3CDS
ENST00000396671	24228938	24229001	3UTR-3CDS
ENST00000416420	24228938	24229001	3UTR-3CDS
ENST00000642307	24228938	24229001	3UTR-3CDS
ENST00000643772	24228938	24229001	3UTR-3CDS
ENST00000645139	24228938	24229001	3UTR-3CDS
ENST00000646209	24228938	24229001	3UTR-3CDS
ENST00000646432	24228938	24229001	3UTR-3CDS
ENST00000644321	24237991	24238081	3UTR-3UTR
ENST00000356447	24297226	24297371	3UTR-3UTR
ENST00000416420	24297226	24297323	3UTR-3UTR
ENST00000646209	24297226	24297371	3UTR-3UTR
ENST00000416420	24318358	24318494	3UTR-3UTR
ENST00000356447	24146675	24146822	Frame-shift
ENST00000396671	24146675	24146822	Frame-shift
ENST00000416420	24146675	24146822	Frame-shift
ENST00000642307	24146675	24146822	Frame-shift
ENST00000643772	24146675	24146822	Frame-shift
ENST00000644321	24146675	24146822	Frame-shift
ENST00000645139	24146675	24146822	Frame-shift
ENST00000646209	24146675	24146822	Frame-shift
ENST00000646432	24146675	24146822	Frame-shift
ENST00000356447	24152390	24152490	Frame-shift
ENST00000396671	24152390	24152490	Frame-shift
ENST00000416420	24152390	24152490	Frame-shift
ENST00000642307	24152390	24152490	Frame-shift
ENST00000643772	24152390	24152490	Frame-shift
ENST00000644321	24152390	24152490	Frame-shift
ENST00000645139	24152390	24152490	Frame-shift
ENST00000646209	24152390	24152490	Frame-shift
ENST00000646432	24152390	24152490	Frame-shift
ENST00000356447	24190074	24190334	In-frame
ENST00000396671	24190074	24190334	In-frame
ENST00000416420	24190074	24190334	In-frame
ENST00000642307	24190074	24190334	In-frame
ENST00000643772	24190074	24190334	In-frame
ENST00000644321	24190074	24190334	In-frame
ENST00000645139	24190074	24190334	In-frame
ENST00000646209	24190074	24190334	In-frame
ENST00000646432	24190074	24190334	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
ENST00000356447	24228938	24229001	3UTR-3CDS
ENST00000396671	24228938	24229001	3UTR-3CDS
ENST00000416420	24228938	24229001	3UTR-3CDS
ENST00000642307	24228938	24229001	3UTR-3CDS
ENST00000643772	24228938	24229001	3UTR-3CDS
ENST00000645139	24228938	24229001	3UTR-3CDS
ENST00000646209	24228938	24229001	3UTR-3CDS
ENST00000646432	24228938	24229001	3UTR-3CDS
ENST00000644321	24237991	24238081	3UTR-3UTR
ENST00000356447	24297226	24297371	3UTR-3UTR
ENST00000416420	24297226	24297323	3UTR-3UTR
ENST00000646209	24297226	24297371	3UTR-3UTR
ENST00000416420	24318358	24318494	3UTR-3UTR
ENST00000356447	24146675	24146822	Frame-shift
ENST00000396671	24146675	24146822	Frame-shift
ENST00000416420	24146675	24146822	Frame-shift
ENST00000642307	24146675	24146822	Frame-shift
ENST00000643772	24146675	24146822	Frame-shift
ENST00000644321	24146675	24146822	Frame-shift
ENST00000645139	24146675	24146822	Frame-shift
ENST00000646209	24146675	24146822	Frame-shift
ENST00000646432	24146675	24146822	Frame-shift
ENST00000356447	24152390	24152490	Frame-shift
ENST00000396671	24152390	24152490	Frame-shift
ENST00000416420	24152390	24152490	Frame-shift
ENST00000642307	24152390	24152490	Frame-shift
ENST00000643772	24152390	24152490	Frame-shift
ENST00000644321	24152390	24152490	Frame-shift
ENST00000645139	24152390	24152490	Frame-shift
ENST00000646209	24152390	24152490	Frame-shift
ENST00000646432	24152390	24152490	Frame-shift

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

p-ENSG00000151090_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
ENST00000356447	6450	461	24190074	24190334	400	659	7	94
ENST00000396671	7419	461	24190074	24190334	308	567	7	94
ENST00000416420	2588	461	24190074	24190334	532	791	7	94
ENST00000642307	5461	461	24190074	24190334	268	527	7	94
ENST00000643772	5609	461	24190074	24190334	401	660	7	94
ENST00000644321	5506	461	24190074	24190334	314	573	7	94
ENST00000645139	5516	461	24190074	24190334	320	579	7	94
ENST00000646209	5534	461	24190074	24190334	460	719	7	94
ENST00000646432	5727	461	24190074	24190334	506	765	7	94

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
ENST00000356447	6450	461	24190074	24190334	400	659	7	94
ENST00000396671	7419	461	24190074	24190334	308	567	7	94
ENST00000416420	2588	461	24190074	24190334	532	791	7	94
ENST00000642307	5461	461	24190074	24190334	268	527	7	94
ENST00000643772	5609	461	24190074	24190334	401	660	7	94
ENST00000644321	5506	461	24190074	24190334	314	573	7	94
ENST00000645139	5516	461	24190074	24190334	320	579	7	94
ENST00000646209	5534	461	24190074	24190334	460	719	7	94
ENST00000646432	5727	461	24190074	24190334	506	765	7	94

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

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
P10828	7	94	1	93	Alternative sequence	ID=VSP_031077;Note=In isoform Beta-2. MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKC->MNYCMQEIYEVHPAAGSNCYMQSTDYYAYFEDSPGYSGCDAQAVPSNNIYMEQAWAVNQPYTCSYPGNMFKSKDSDLDMALNQYSQPEYFTEEKPTFSQVQSPSYSQK;Ontology_term
P10828	7	94	1	93	Alternative sequence	ID=VSP_031077;Note=In isoform Beta-2. MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKC->MNYCMQEIYEVHPAAGSNCYMQSTDYYAYFEDSPGYSGCDAQAVPSNNIYMEQAWAVNQPYTCSYPGNMFKSKDSDLDMALNQYSQPEYFTEEKPTFSQVQSPSYSQK;Ontology_term
P10828	7	94	1	93	Alternative sequence	ID=VSP_031077;Note=In isoform Beta-2. MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKC->MNYCMQEIYEVHPAAGSNCYMQSTDYYAYFEDSPGYSGCDAQAVPSNNIYMEQAWAVNQPYTCSYPGNMFKSKDSDLDMALNQYSQPEYFTEEKPTFSQVQSPSYSQK;Ontology_term
P10828	7	94	1	93	Alternative sequence	ID=VSP_031077;Note=In isoform Beta-2. MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKC->MNYCMQEIYEVHPAAGSNCYMQSTDYYAYFEDSPGYSGCDAQAVPSNNIYMEQAWAVNQPYTCSYPGNMFKSKDSDLDMALNQYSQPEYFTEEKPTFSQVQSPSYSQK;Ontology_term
P10828	7	94	1	93	Alternative sequence	ID=VSP_031077;Note=In isoform Beta-2. MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKC->MNYCMQEIYEVHPAAGSNCYMQSTDYYAYFEDSPGYSGCDAQAVPSNNIYMEQAWAVNQPYTCSYPGNMFKSKDSDLDMALNQYSQPEYFTEEKPTFSQVQSPSYSQK;Ontology_term
P10828	7	94	1	93	Alternative sequence	ID=VSP_031077;Note=In isoform Beta-2. MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKC->MNYCMQEIYEVHPAAGSNCYMQSTDYYAYFEDSPGYSGCDAQAVPSNNIYMEQAWAVNQPYTCSYPGNMFKSKDSDLDMALNQYSQPEYFTEEKPTFSQVQSPSYSQK;Ontology_term
P10828	7	94	1	93	Alternative sequence	ID=VSP_031077;Note=In isoform Beta-2. MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKC->MNYCMQEIYEVHPAAGSNCYMQSTDYYAYFEDSPGYSGCDAQAVPSNNIYMEQAWAVNQPYTCSYPGNMFKSKDSDLDMALNQYSQPEYFTEEKPTFSQVQSPSYSQK;Ontology_term
P10828	7	94	1	93	Alternative sequence	ID=VSP_031077;Note=In isoform Beta-2. MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKC->MNYCMQEIYEVHPAAGSNCYMQSTDYYAYFEDSPGYSGCDAQAVPSNNIYMEQAWAVNQPYTCSYPGNMFKSKDSDLDMALNQYSQPEYFTEEKPTFSQVQSPSYSQK;Ontology_term
P10828	7	94	1	93	Alternative sequence	ID=VSP_031077;Note=In isoform Beta-2. MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKC->MNYCMQEIYEVHPAAGSNCYMQSTDYYAYFEDSPGYSGCDAQAVPSNNIYMEQAWAVNQPYTCSYPGNMFKSKDSDLDMALNQYSQPEYFTEEKPTFSQVQSPSYSQK;Ontology_term
P10828	7	94	1	461	Chain	ID=PRO_0000053446;Note=Thyroid hormone receptor beta
P10828	7	94	1	461	Chain	ID=PRO_0000053446;Note=Thyroid hormone receptor beta
P10828	7	94	1	461	Chain	ID=PRO_0000053446;Note=Thyroid hormone receptor beta
P10828	7	94	1	461	Chain	ID=PRO_0000053446;Note=Thyroid hormone receptor beta
P10828	7	94	1	461	Chain	ID=PRO_0000053446;Note=Thyroid hormone receptor beta
P10828	7	94	1	461	Chain	ID=PRO_0000053446;Note=Thyroid hormone receptor beta
P10828	7	94	1	461	Chain	ID=PRO_0000053446;Note=Thyroid hormone receptor beta
P10828	7	94	1	461	Chain	ID=PRO_0000053446;Note=Thyroid hormone receptor beta
P10828	7	94	1	461	Chain	ID=PRO_0000053446;Note=Thyroid hormone receptor beta
P10828	7	94	1	106	Region	Note=Modulating
P10828	7	94	1	106	Region	Note=Modulating
P10828	7	94	1	106	Region	Note=Modulating
P10828	7	94	1	106	Region	Note=Modulating
P10828	7	94	1	106	Region	Note=Modulating
P10828	7	94	1	106	Region	Note=Modulating
P10828	7	94	1	106	Region	Note=Modulating
P10828	7	94	1	106	Region	Note=Modulating
P10828	7	94	1	106	Region	Note=Modulating

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
P10828	7	94	1	93	Alternative sequence	ID=VSP_031077;Note=In isoform Beta-2. MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKC->MNYCMQEIYEVHPAAGSNCYMQSTDYYAYFEDSPGYSGCDAQAVPSNNIYMEQAWAVNQPYTCSYPGNMFKSKDSDLDMALNQYSQPEYFTEEKPTFSQVQSPSYSQK;Ontology_term
P10828	7	94	1	93	Alternative sequence	ID=VSP_031077;Note=In isoform Beta-2. MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKC->MNYCMQEIYEVHPAAGSNCYMQSTDYYAYFEDSPGYSGCDAQAVPSNNIYMEQAWAVNQPYTCSYPGNMFKSKDSDLDMALNQYSQPEYFTEEKPTFSQVQSPSYSQK;Ontology_term
P10828	7	94	1	93	Alternative sequence	ID=VSP_031077;Note=In isoform Beta-2. MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKC->MNYCMQEIYEVHPAAGSNCYMQSTDYYAYFEDSPGYSGCDAQAVPSNNIYMEQAWAVNQPYTCSYPGNMFKSKDSDLDMALNQYSQPEYFTEEKPTFSQVQSPSYSQK;Ontology_term
P10828	7	94	1	93	Alternative sequence	ID=VSP_031077;Note=In isoform Beta-2. MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKC->MNYCMQEIYEVHPAAGSNCYMQSTDYYAYFEDSPGYSGCDAQAVPSNNIYMEQAWAVNQPYTCSYPGNMFKSKDSDLDMALNQYSQPEYFTEEKPTFSQVQSPSYSQK;Ontology_term
P10828	7	94	1	93	Alternative sequence	ID=VSP_031077;Note=In isoform Beta-2. MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKC->MNYCMQEIYEVHPAAGSNCYMQSTDYYAYFEDSPGYSGCDAQAVPSNNIYMEQAWAVNQPYTCSYPGNMFKSKDSDLDMALNQYSQPEYFTEEKPTFSQVQSPSYSQK;Ontology_term
P10828	7	94	1	93	Alternative sequence	ID=VSP_031077;Note=In isoform Beta-2. MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKC->MNYCMQEIYEVHPAAGSNCYMQSTDYYAYFEDSPGYSGCDAQAVPSNNIYMEQAWAVNQPYTCSYPGNMFKSKDSDLDMALNQYSQPEYFTEEKPTFSQVQSPSYSQK;Ontology_term
P10828	7	94	1	93	Alternative sequence	ID=VSP_031077;Note=In isoform Beta-2. MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKC->MNYCMQEIYEVHPAAGSNCYMQSTDYYAYFEDSPGYSGCDAQAVPSNNIYMEQAWAVNQPYTCSYPGNMFKSKDSDLDMALNQYSQPEYFTEEKPTFSQVQSPSYSQK;Ontology_term
P10828	7	94	1	93	Alternative sequence	ID=VSP_031077;Note=In isoform Beta-2. MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKC->MNYCMQEIYEVHPAAGSNCYMQSTDYYAYFEDSPGYSGCDAQAVPSNNIYMEQAWAVNQPYTCSYPGNMFKSKDSDLDMALNQYSQPEYFTEEKPTFSQVQSPSYSQK;Ontology_term
P10828	7	94	1	93	Alternative sequence	ID=VSP_031077;Note=In isoform Beta-2. MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKC->MNYCMQEIYEVHPAAGSNCYMQSTDYYAYFEDSPGYSGCDAQAVPSNNIYMEQAWAVNQPYTCSYPGNMFKSKDSDLDMALNQYSQPEYFTEEKPTFSQVQSPSYSQK;Ontology_term
P10828	7	94	1	461	Chain	ID=PRO_0000053446;Note=Thyroid hormone receptor beta
P10828	7	94	1	461	Chain	ID=PRO_0000053446;Note=Thyroid hormone receptor beta
P10828	7	94	1	461	Chain	ID=PRO_0000053446;Note=Thyroid hormone receptor beta
P10828	7	94	1	461	Chain	ID=PRO_0000053446;Note=Thyroid hormone receptor beta
P10828	7	94	1	461	Chain	ID=PRO_0000053446;Note=Thyroid hormone receptor beta
P10828	7	94	1	461	Chain	ID=PRO_0000053446;Note=Thyroid hormone receptor beta
P10828	7	94	1	461	Chain	ID=PRO_0000053446;Note=Thyroid hormone receptor beta
P10828	7	94	1	461	Chain	ID=PRO_0000053446;Note=Thyroid hormone receptor beta
P10828	7	94	1	461	Chain	ID=PRO_0000053446;Note=Thyroid hormone receptor beta
P10828	7	94	1	106	Region	Note=Modulating
P10828	7	94	1	106	Region	Note=Modulating
P10828	7	94	1	106	Region	Note=Modulating
P10828	7	94	1	106	Region	Note=Modulating
P10828	7	94	1	106	Region	Note=Modulating
P10828	7	94	1	106	Region	Note=Modulating
P10828	7	94	1	106	Region	Note=Modulating
P10828	7	94	1	106	Region	Note=Modulating
P10828	7	94	1	106	Region	Note=Modulating

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

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

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
Mayo	ENST00000416420	24318358	24318494	hsa-miR-3659	chr3:24318412-24318419	8mer-1a	chr3:24318400-24318419	161.00	-23.14
Mayo	ENST00000416420	24318358	24318494	hsa-miR-4709-3p	chr3:24318459-24318466	8mer-1a	chr3:24318448-24318468	146.00	-13.11
Mayo	ENST00000646209	24297226	24297371	hsa-miR-8065	chr3:24297307-24297314	8mer-1a	chr3:24297307-24297327	162.00	-25.59
Mayo	ENST00000416420	24297226	24297323	hsa-miR-8065	chr3:24297307-24297314	8mer-1a	chr3:24297307-24297327	162.00	-25.59
Mayo	ENST00000646209	24297226	24297371	hsa-miR-338-3p	chr3:24297346-24297353	8mer-1a	chr3:24297332-24297353	152.00	-15.41
Mayo	ENST00000416420	24318358	24318494	hsa-miR-4443	chr3:24318482-24318489	8mer-1a	chr3:24318475-24318494	143.00	-26.31
Mayo	ENST00000646209	24297226	24297371	hsa-miR-4635	chr3:24297276-24297283	8mer-1a	chr3:24297263-24297283	154.00	-14.81
Mayo	ENST00000416420	24297226	24297323	hsa-miR-4635	chr3:24297276-24297283	8mer-1a	chr3:24297263-24297283	154.00	-14.81
Mayo	ENST00000644321	24237991	24238081	hsa-miR-6832-5p	chr3:24238049-24238056	8mer-1a	chr3:24238049-24238073	159.00	-19.67
Mayo	ENST00000646209	24297226	24297371	hsa-miR-1913	chr3:24297327-24297334	8mer-1a	chr3:24297313-24297334	145.00	-24.18
Mayo	ENST00000416420	24318358	24318494	hsa-miR-6840-3p	chr3:24318436-24318443	8mer-1a	chr3:24318436-24318453	147.00	-13.84
Mayo	ENST00000644321	24237991	24238081	hsa-miR-651-3p	chr3:24238031-24238038	8mer-1a	chr3:24238017-24238038	164.00	-14.77
Mayo	ENST00000646209	24297226	24297371	hsa-miR-452-3p	chr3:24297331-24297338	8mer-1a	chr3:24297317-24297338	145.00	-15.32
MSBB	ENST00000416420	24318358	24318494	hsa-miR-3659	chr3:24318412-24318419	8mer-1a	chr3:24318400-24318419	161.00	-23.14
MSBB	ENST00000416420	24318358	24318494	hsa-miR-4709-3p	chr3:24318459-24318466	8mer-1a	chr3:24318448-24318468	146.00	-13.11
MSBB	ENST00000646209	24297226	24297371	hsa-miR-8065	chr3:24297307-24297314	8mer-1a	chr3:24297307-24297327	162.00	-25.59
MSBB	ENST00000416420	24297226	24297323	hsa-miR-8065	chr3:24297307-24297314	8mer-1a	chr3:24297307-24297327	162.00	-25.59
MSBB	ENST00000646209	24297226	24297371	hsa-miR-338-3p	chr3:24297346-24297353	8mer-1a	chr3:24297332-24297353	152.00	-15.41
MSBB	ENST00000416420	24318358	24318494	hsa-miR-4443	chr3:24318482-24318489	8mer-1a	chr3:24318475-24318494	143.00	-26.31
MSBB	ENST00000646209	24297226	24297371	hsa-miR-4635	chr3:24297276-24297283	8mer-1a	chr3:24297263-24297283	154.00	-14.81
MSBB	ENST00000416420	24297226	24297323	hsa-miR-4635	chr3:24297276-24297283	8mer-1a	chr3:24297263-24297283	154.00	-14.81
MSBB	ENST00000644321	24237991	24238081	hsa-miR-6832-5p	chr3:24238049-24238056	8mer-1a	chr3:24238049-24238073	159.00	-19.67
MSBB	ENST00000646209	24297226	24297371	hsa-miR-1913	chr3:24297327-24297334	8mer-1a	chr3:24297313-24297334	145.00	-24.18
MSBB	ENST00000416420	24318358	24318494	hsa-miR-6840-3p	chr3:24318436-24318443	8mer-1a	chr3:24318436-24318453	147.00	-13.84
MSBB	ENST00000644321	24237991	24238081	hsa-miR-651-3p	chr3:24238031-24238038	8mer-1a	chr3:24238017-24238038	164.00	-14.77
MSBB	ENST00000646209	24297226	24297371	hsa-miR-452-3p	chr3:24297331-24297338	8mer-1a	chr3:24297317-24297338	145.00	-15.32
ROSMAP	ENST00000416420	24318358	24318494	hsa-miR-3659	chr3:24318412-24318419	8mer-1a	chr3:24318400-24318419	161.00	-23.14
ROSMAP	ENST00000416420	24318358	24318494	hsa-miR-4709-3p	chr3:24318459-24318466	8mer-1a	chr3:24318448-24318468	146.00	-13.11
ROSMAP	ENST00000646209	24297226	24297371	hsa-miR-8065	chr3:24297307-24297314	8mer-1a	chr3:24297307-24297327	162.00	-25.59
ROSMAP	ENST00000416420	24297226	24297323	hsa-miR-8065	chr3:24297307-24297314	8mer-1a	chr3:24297307-24297327	162.00	-25.59
ROSMAP	ENST00000646209	24297226	24297371	hsa-miR-338-3p	chr3:24297346-24297353	8mer-1a	chr3:24297332-24297353	152.00	-15.41
ROSMAP	ENST00000416420	24318358	24318494	hsa-miR-4443	chr3:24318482-24318489	8mer-1a	chr3:24318475-24318494	143.00	-26.31
ROSMAP	ENST00000646209	24297226	24297371	hsa-miR-4635	chr3:24297276-24297283	8mer-1a	chr3:24297263-24297283	154.00	-14.81
ROSMAP	ENST00000416420	24297226	24297323	hsa-miR-4635	chr3:24297276-24297283	8mer-1a	chr3:24297263-24297283	154.00	-14.81
ROSMAP	ENST00000644321	24237991	24238081	hsa-miR-6832-5p	chr3:24238049-24238056	8mer-1a	chr3:24238049-24238073	159.00	-19.67
ROSMAP	ENST00000646209	24297226	24297371	hsa-miR-1913	chr3:24297327-24297334	8mer-1a	chr3:24297313-24297334	145.00	-24.18
ROSMAP	ENST00000416420	24318358	24318494	hsa-miR-6840-3p	chr3:24318436-24318443	8mer-1a	chr3:24318436-24318453	147.00	-13.84
ROSMAP	ENST00000644321	24237991	24238081	hsa-miR-651-3p	chr3:24238031-24238038	8mer-1a	chr3:24238017-24238038	164.00	-14.77
ROSMAP	ENST00000646209	24297226	24297371	hsa-miR-452-3p	chr3:24297331-24297338	8mer-1a	chr3:24297317-24297338	145.00	-15.32

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SNVs in the skipped exons for THRB

- 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 THRB

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 THRB

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
HCC	exon_skip_290152	rs1449874	chr3:24230337	1.497438e-04	1.280897e-02
HCC	exon_skip_290152	rs7632903	chr3:24231063	3.442288e-04	2.523614e-02
PCC	exon_skip_40955	rs17787319	chr3:24301495	1.550995e-04	2.450586e-02

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Correlation with RNA binding proteins (RBPs) for THRB

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
FL	SRSF2	exon_skip_114524	-4.094064e-01	3.078081e-09
FL	HNRNPL	exon_skip_114524	-4.036769e-01	5.330216e-09
FL	ESRP1	exon_skip_290152	-4.156794e-01	2.232640e-09
IFG	TARDBP	exon_skip_126800	-4.586458e-01	1.409753e-02
IFG	ELAVL4	exon_skip_114524	-4.420687e-01	1.850424e-02
IFG	KHDRBS3	exon_skip_114524	-5.040460e-01	6.240892e-03
IFG	RALYL	exon_skip_114524	-4.941735e-01	7.520114e-03
IFG	EWSR1	exon_skip_18041	4.062382e-01	4.389934e-02
IFG	ESRP1	exon_skip_18041	4.308406e-01	3.154827e-02

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RelatedDrugs for THRB

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

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
P10828	approved\|vet_approved	DB00279	Liothyronine	small molecule	P10828
P10828	approved	DB00451	Levothyroxine	small molecule	P10828
P10828	approved\|investigational	DB00509	Dextrothyroxine	small molecule	P10828
P10828	approved\|investigational	DB01118	Amiodarone	small molecule	P10828

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RelatedDiseases for THRB

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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