ExonSkipDB: 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	20180523
	UniProtAcc	P10828
	Context	PubMed: THRB [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 THRB 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 THRB

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 THRB

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_382027	3	24168989:24169248:24174806:24174953:24184991:24185197	24174806:24174953	ENSG00000151090.13	ENST00000416420.1,ENST00000280696.5,ENST00000396671.2,ENST00000356447.4
exon_skip_382029	3	24184991:24185197:24188165:24188313:24193880:24193981	24188165:24188313	ENSG00000151090.13	ENST00000416420.1,ENST00000280696.5,ENST00000396671.2,ENST00000356447.4
exon_skip_382030	3	24188208:24188313:24193880:24193981:24231564:24231825	24193880:24193981	ENSG00000151090.13	ENST00000416420.1,ENST00000413780.1,ENST00000396671.2,ENST00000356447.4
exon_skip_382031	3	24193953:24193981:24231564:24231825:24270428:24270492	24231564:24231825	ENSG00000151090.13	ENST00000453729.2,ENST00000447875.1,ENST00000416420.1,ENST00000431815.1,ENST00000396671.2,ENST00000356447.4,ENST00000415021.1,ENST00000447414.1
exon_skip_382032	3	24231658:24231825:24270428:24270492:24338716:24338814	24270428:24270492	ENSG00000151090.13	ENST00000416420.1,ENST00000396671.2,ENST00000415021.1
exon_skip_382033	3	24231658:24231825:24270428:24270492:24359848:24359985	24270428:24270492	ENSG00000151090.13	ENST00000447875.1,ENST00000418247.1,ENST00000428492.1
exon_skip_382034	3	24231658:24231825:24270428:24270492:24378790:24378862	24270428:24270492	ENSG00000151090.13	ENST00000453729.2,ENST00000431815.1,ENST00000356447.4,ENST00000447414.1
exon_skip_382038	3	24231658:24231825:24338716:24338862:24378790:24378862	24338716:24338862	ENSG00000151090.13	ENST00000413780.1
exon_skip_382043	3	24270428:24270492:24338716:24338814:24359848:24359985	24338716:24338814	ENSG00000151090.13	ENST00000416420.1
exon_skip_382049	3	24270428:24270492:24338716:24338862:24378790:24378862	24338716:24338862	ENSG00000151090.13	ENST00000396671.2,ENST00000415021.1
exon_skip_382050	3	24270428:24270492:24359848:24359985:24378790:24378862	24359848:24359985	ENSG00000151090.13	ENST00000447875.1,ENST00000418247.1,ENST00000428492.1
exon_skip_382063	3	24338716:24338814:24359848:24359985:24378790:24378862	24359848:24359985	ENSG00000151090.13	ENST00000416420.1
exon_skip_382069	3	24378790:24378862:24390048:24390105:24536285:24536453	24390048:24390105	ENSG00000151090.13	ENST00000453729.2
exon_skip_382071	3	24378790:24378862:24471591:24471663:24536177:24536242	24471591:24471663	ENSG00000151090.13	ENST00000447875.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for THRB

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_382027	3	24168989:24169248:24174806:24174953:24184991:24185197	24174806:24174953	ENSG00000151090.13	ENST00000396671.2,ENST00000356447.4,ENST00000416420.1,ENST00000280696.5
exon_skip_382029	3	24184991:24185197:24188165:24188313:24193880:24193981	24188165:24188313	ENSG00000151090.13	ENST00000396671.2,ENST00000356447.4,ENST00000416420.1,ENST00000280696.5
exon_skip_382030	3	24188208:24188313:24193880:24193981:24231564:24231825	24193880:24193981	ENSG00000151090.13	ENST00000396671.2,ENST00000356447.4,ENST00000416420.1,ENST00000413780.1
exon_skip_382031	3	24193953:24193981:24231564:24231825:24270428:24270492	24231564:24231825	ENSG00000151090.13	ENST00000396671.2,ENST00000356447.4,ENST00000416420.1,ENST00000415021.1,ENST00000447875.1,ENST00000453729.2,ENST00000431815.1,ENST00000447414.1
exon_skip_382032	3	24231658:24231825:24270428:24270492:24338716:24338814	24270428:24270492	ENSG00000151090.13	ENST00000396671.2,ENST00000416420.1,ENST00000415021.1
exon_skip_382033	3	24231658:24231825:24270428:24270492:24359848:24359985	24270428:24270492	ENSG00000151090.13	ENST00000447875.1,ENST00000428492.1,ENST00000418247.1
exon_skip_382034	3	24231658:24231825:24270428:24270492:24378790:24378862	24270428:24270492	ENSG00000151090.13	ENST00000356447.4,ENST00000453729.2,ENST00000431815.1,ENST00000447414.1
exon_skip_382038	3	24231658:24231825:24338716:24338862:24378790:24378862	24338716:24338862	ENSG00000151090.13	ENST00000413780.1
exon_skip_382043	3	24270428:24270492:24338716:24338814:24359848:24359985	24338716:24338814	ENSG00000151090.13	ENST00000416420.1
exon_skip_382049	3	24270428:24270492:24338716:24338862:24378790:24378862	24338716:24338862	ENSG00000151090.13	ENST00000396671.2,ENST00000415021.1
exon_skip_382050	3	24270428:24270492:24359848:24359985:24378790:24378862	24359848:24359985	ENSG00000151090.13	ENST00000447875.1,ENST00000428492.1,ENST00000418247.1
exon_skip_382063	3	24338716:24338814:24359848:24359985:24378790:24378862	24359848:24359985	ENSG00000151090.13	ENST00000416420.1
exon_skip_382069	3	24378790:24378862:24390048:24390105:24536285:24536453	24390048:24390105	ENSG00000151090.13	ENST00000453729.2
exon_skip_382071	3	24378790:24378862:24471591:24471663:24536177:24536242	24471591:24471663	ENSG00000151090.13	ENST00000447875.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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

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
ENST00000356447	24270428	24270492	3UTR-3CDS
ENST00000396671	24270428	24270492	3UTR-3CDS
ENST00000416420	24270428	24270492	3UTR-3CDS
ENST00000396671	24338716	24338862	3UTR-3UTR
ENST00000416420	24338716	24338814	3UTR-3UTR
ENST00000416420	24359848	24359985	3UTR-3UTR
ENST00000356447	24188165	24188313	Frame-shift
ENST00000396671	24188165	24188313	Frame-shift
ENST00000416420	24188165	24188313	Frame-shift
ENST00000356447	24193880	24193981	Frame-shift
ENST00000396671	24193880	24193981	Frame-shift
ENST00000416420	24193880	24193981	Frame-shift
ENST00000356447	24174806	24174953	In-frame
ENST00000396671	24174806	24174953	In-frame
ENST00000416420	24174806	24174953	In-frame
ENST00000356447	24231564	24231825	In-frame
ENST00000396671	24231564	24231825	In-frame
ENST00000416420	24231564	24231825	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
ENST00000356447	24270428	24270492	3UTR-3CDS
ENST00000396671	24270428	24270492	3UTR-3CDS
ENST00000416420	24270428	24270492	3UTR-3CDS
ENST00000396671	24338716	24338862	3UTR-3UTR
ENST00000416420	24338716	24338814	3UTR-3UTR
ENST00000416420	24359848	24359985	3UTR-3UTR
ENST00000356447	24188165	24188313	Frame-shift
ENST00000396671	24188165	24188313	Frame-shift
ENST00000416420	24188165	24188313	Frame-shift
ENST00000356447	24193880	24193981	Frame-shift
ENST00000396671	24193880	24193981	Frame-shift
ENST00000416420	24193880	24193981	Frame-shift
ENST00000356447	24174806	24174953	In-frame
ENST00000396671	24174806	24174953	In-frame
ENST00000416420	24174806	24174953	In-frame
ENST00000356447	24231564	24231825	In-frame
ENST00000396671	24231564	24231825	In-frame
ENST00000416420	24231564	24231825	In-frame

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

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
ENST00000356447	6358	461	24231564	24231825	308	568	7	94
ENST00000396671	7476	461	24231564	24231825	372	632	7	94
ENST00000416420	2588	461	24231564	24231825	532	792	7	94
ENST00000356447	6358	461	24174806	24174953	1024	1170	246	295
ENST00000396671	7476	461	24174806	24174953	1088	1234	246	295
ENST00000416420	2588	461	24174806	24174953	1248	1394	246	295

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
ENST00000356447	6358	461	24231564	24231825	308	568	7	94
ENST00000396671	7476	461	24231564	24231825	372	632	7	94
ENST00000416420	2588	461	24231564	24231825	532	792	7	94
ENST00000356447	6358	461	24174806	24174953	1024	1170	246	295
ENST00000396671	7476	461	24174806	24174953	1088	1234	246	295
ENST00000416420	2588	461	24174806	24174953	1248	1394	246	295

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
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	106	Region	Note=Modulating
P10828	7	94	1	106	Region	Note=Modulating
P10828	7	94	1	106	Region	Note=Modulating
P10828	246	295	260	263	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	260	263	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	260	263	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	282	282	Binding site	Note=Thyroid hormone
P10828	246	295	282	282	Binding site	Note=Thyroid hormone
P10828	246	295	282	282	Binding site	Note=Thyroid hormone
P10828	246	295	1	461	Chain	ID=PRO_0000053446;Note=Thyroid hormone receptor beta
P10828	246	295	1	461	Chain	ID=PRO_0000053446;Note=Thyroid hormone receptor beta
P10828	246	295	1	461	Chain	ID=PRO_0000053446;Note=Thyroid hormone receptor beta
P10828	246	295	217	461	Domain	Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01189
P10828	246	295	217	461	Domain	Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01189
P10828	246	295	217	461	Domain	Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01189
P10828	246	295	266	273	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	266	273	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	266	273	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	276	288	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	276	288	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	276	288	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	293	295	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	293	295	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	293	295	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	268	268	Natural variant	ID=VAR_059041;Note=In GTHR. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19268523;Dbxref=PMID:19268523
P10828	246	295	268	268	Natural variant	ID=VAR_059041;Note=In GTHR. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19268523;Dbxref=PMID:19268523
P10828	246	295	268	268	Natural variant	ID=VAR_059041;Note=In GTHR. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19268523;Dbxref=PMID:19268523
P10828	246	295	244	461	Region	Note=Interaction with NR2F6;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10713182;Dbxref=PMID:10713182
P10828	246	295	244	461	Region	Note=Interaction with NR2F6;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10713182;Dbxref=PMID:10713182
P10828	246	295	244	461	Region	Note=Interaction with NR2F6;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10713182;Dbxref=PMID:10713182
P10828	246	295	248	251	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	248	251	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	248	251	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46

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
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	106	Region	Note=Modulating
P10828	7	94	1	106	Region	Note=Modulating
P10828	7	94	1	106	Region	Note=Modulating
P10828	246	295	260	263	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	260	263	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	260	263	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	282	282	Binding site	Note=Thyroid hormone
P10828	246	295	282	282	Binding site	Note=Thyroid hormone
P10828	246	295	282	282	Binding site	Note=Thyroid hormone
P10828	246	295	1	461	Chain	ID=PRO_0000053446;Note=Thyroid hormone receptor beta
P10828	246	295	1	461	Chain	ID=PRO_0000053446;Note=Thyroid hormone receptor beta
P10828	246	295	1	461	Chain	ID=PRO_0000053446;Note=Thyroid hormone receptor beta
P10828	246	295	217	461	Domain	Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01189
P10828	246	295	217	461	Domain	Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01189
P10828	246	295	217	461	Domain	Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01189
P10828	246	295	266	273	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	266	273	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	266	273	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	276	288	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	276	288	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	276	288	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	293	295	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	293	295	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	293	295	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	268	268	Natural variant	ID=VAR_059041;Note=In GTHR. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19268523;Dbxref=PMID:19268523
P10828	246	295	268	268	Natural variant	ID=VAR_059041;Note=In GTHR. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19268523;Dbxref=PMID:19268523
P10828	246	295	268	268	Natural variant	ID=VAR_059041;Note=In GTHR. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19268523;Dbxref=PMID:19268523
P10828	246	295	244	461	Region	Note=Interaction with NR2F6;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10713182;Dbxref=PMID:10713182
P10828	246	295	244	461	Region	Note=Interaction with NR2F6;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10713182;Dbxref=PMID:10713182
P10828	246	295	244	461	Region	Note=Interaction with NR2F6;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10713182;Dbxref=PMID:10713182
P10828	246	295	248	251	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	248	251	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46
P10828	246	295	248	251	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N46

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SNVs in the skipped exons for THRB

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

- Differential PSIs between mutated versus non-mutated samples.

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

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-G3-A3CJ-01	exon_skip_382030	24193881	24193981	24193933	24193933	Frame_Shift_Del	C	-	p.G111fs
LIHC	TCGA-DD-A3A0-01	exon_skip_382030	24193881	24193981	24193971	24193971	Frame_Shift_Del	G	-	p.P98fs
LIHC	TCGA-DD-A39Y-01	exon_skip_382031	24231565	24231825	24231580	24231580	Frame_Shift_Del	C	-	p.E90fs
SKCM	TCGA-FW-A3TU-06	exon_skip_382029	24188166	24188313	24188211	24188211	Nonsense_Mutation	C	A	p.E163*
SKCM	TCGA-FW-A3TU-06	exon_skip_382029	24188166	24188313	24188211	24188211	Nonsense_Mutation	C	A	p.E163X
LUAD	TCGA-95-7567-01	exon_skip_382031	24231565	24231825	24231827	24231827	Splice_Site	T	C	p.E8_splice

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

Depth of coverage in three exons

Mutation description

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

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
BICR18_UPPER_AERODIGESTIVE_TRACT	24188166	24188313	24188247	24188248	Frame_Shift_Del	AT	-	p.C151fs
BICR18_UPPER_AERODIGESTIVE_TRACT	24188166	24188313	24188243	24188244	Frame_Shift_Ins	-	TG	p.V152fs
SNU213_PANCREAS	24231565	24231825	24231578	24231580	In_Frame_Del	CTC	-	p.E90del
SNU719_STOMACH	24174807	24174953	24174827	24174827	Missense_Mutation	T	G	p.K289Q
MDST8_LARGE_INTESTINE	24188166	24188313	24188225	24188225	Missense_Mutation	C	T	p.R158Q
MEWO_SKIN	24188166	24188313	24188276	24188276	Missense_Mutation	G	A	p.P141L
CP66MEL_SKIN	24188166	24188313	24188297	24188297	Missense_Mutation	G	A	p.T134I
NCIH64_LUNG	24193881	24193981	24193921	24193921	Missense_Mutation	G	A	p.T115I
HEC251_ENDOMETRIUM	24193881	24193981	24193954	24193954	Missense_Mutation	T	C	p.D104G
JHUEM7_ENDOMETRIUM	24193881	24193981	24193961	24193961	Missense_Mutation	C	A	p.D102Y
BB49EBV_MATCHED_NORMAL_TISSUE	24231565	24231825	24231594	24231594	Missense_Mutation	G	C	p.T85S
BB49HNC_UPPER_AERODIGESTIVE_TRACT	24231565	24231825	24231594	24231594	Missense_Mutation	G	C	p.T85S
CHP126_AUTONOMIC_GANGLIA	24231565	24231825	24231684	24231684	Missense_Mutation	G	A	p.S55L
NCIH1930_LUNG	24231565	24231825	24231714	24231714	Missense_Mutation	C	A	p.R45M
MEWO_SKIN	24231565	24231825	24231718	24231718	Missense_Mutation	C	T	p.E44K
NCIH841_LUNG	24231565	24231825	24231731	24231731	Missense_Mutation	C	G	p.R39S
CHL1_SKIN	24231565	24231825	24231784	24231784	Missense_Mutation	C	T	p.D22N
HMCB_SKIN	24231565	24231825	24231784	24231784	Missense_Mutation	C	T	p.D22N
BICR18_UPPER_AERODIGESTIVE_TRACT	24188166	24188313	24188167	24188167	Splice_Site	A	G	p.D177D

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

sQTL information located at the skipped exons.

Exon skip ID

Chromosome

Three exons

Skippped exon

ENST

Cancer type

SNP id

Location

DNA change (ref/var)

P-value

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

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

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RelatedDrugs for THRB

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
	P10828	DB00451	Levothyroxine	Thyroid hormone receptor beta	small molecule	approved
	P10828	DB00509	Dextrothyroxine	Thyroid hormone receptor beta	small molecule	approved\|investigational
	P10828	DB01118	Amiodarone	Thyroid hormone receptor beta	small molecule	approved\|investigational
	P10828	DB00279	Liothyronine	Thyroid hormone receptor beta	small molecule	approved\|vet_approved

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RelatedDiseases for THRB

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
THRB	C2937288	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	19	CTD_human;UNIPROT
THRB	C1840364	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	3	CTD_human;ORPHANET;UNIPROT
THRB	C2940786	Thyroid Hormone Resistance Syndrome	2	CTD_human;HPO;ORPHANET
THRB	C0019284	Diaphragmatic Hernia	1	CTD_human
THRB	C0206682	Follicular thyroid carcinoma	1	CTD_human
THRB	C0376634	Craniofacial Abnormalities	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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