ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for MBD1

Gene summary

Gene information	Gene symbol	MBD1
	Gene ID	4152
	Gene name	methyl-CpG binding domain protein 1
	Synonyms	CXXC3\|PCM1\|RFT
	Cytomap	18q21.1
	Type of gene	protein-coding
	Description	methyl-CpG-binding domain protein 1CXXC-type zinc finger protein 3methyl-CpG binding domain protein 1 isoform PCM1protein containing methyl-CpG-binding domain 1the regulator of fibroblast growth factor 2 (FGF-2) transcription
	Modification date	20200313
	UniProtAcc	A0A0A0MS90, K7EIN3, K7EMA9, K7EN65, K7EPZ6,
	Context

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

Gene

GO ID

GO term

PubMed ID

Top

Gene structures and expression levels for MBD1

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.

ENSG00000141644

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	ENST00000589733.1	MBD1-219:protein_coding:MBD1	5.695306e+01	8.350768e-01	5.334491e-13	8.883165e-11
CB	UP	ENST00000585672.5	MBD1-212:protein_coding:MBD1	5.430322e+01	1.052892e+00	1.179860e-08	3.457282e-07
TC	UP	ENST00000347968.7	MBD1-204:protein_coding:MBD1	7.373950e+01	1.454408e+00	2.997281e-04	3.841901e-03
TC	UP	ENST00000590208.5	MBD1-222:protein_coding:MBD1	1.034749e+02	8.105328e-01	6.031828e-04	6.664370e-03

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

Top

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MBD1

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_128058	chr18	50275651:50275728:50275835:50275981:50276378:50276418	50275835:50275981
exon_skip_129934	chr18	50272848:50272955:50273564:50273863:50274186:50274350	50273564:50273863
exon_skip_131470	chr18	50272903:50272955:50273334:50273426:50273564:50273863	50273334:50273426
exon_skip_16233	chr18	50273608:50273863:50274977:50275045:50275129:50275155	50274977:50275045
exon_skip_204045	chr18	50275157:50275245:50275370:50275444:50275600:50275728	50275370:50275444
exon_skip_220534	chr18	50272848:50272955:50273334:50273426:50273564:50273860	50273334:50273426
exon_skip_237602	chr18	50267607:50267663:50271469:50271540:50272677:50272738	50271469:50271540
exon_skip_2583	chr18	50273608:50273863:50274186:50274350:50274977:50275045	50274186:50274350
exon_skip_274301	chr18	50267517:50267663:50271469:50271540:50272677:50272738	50271469:50271540
exon_skip_276160	chr18	50274186:50274350:50274977:50275045:50275129:50275155	50274977:50275045
exon_skip_276705	chr18	50267607:50267663:50272677:50272738:50272824:50272955	50272677:50272738
exon_skip_280372	chr18	50272848:50272955:50273334:50273471:50273564:50273860	50273334:50273471
exon_skip_42787	chr18	50274186:50274353:50274977:50275045:50275129:50275155	50274977:50275045
exon_skip_49997	chr18	50272848:50272955:50273334:50273426:50273564:50273863	50273334:50273426
exon_skip_55016	chr18	50273608:50273863:50274186:50274353:50274977:50275045	50274186:50274353
exon_skip_56564	chr18	50275600:50275728:50275835:50275981:50276378:50276418	50275835:50275981
exon_skip_59732	chr18	50273608:50273863:50274186:50274353:50275129:50275155	50274186:50274353
exon_skip_64707	chr18	50272903:50272955:50273334:50273471:50273564:50273863	50273334:50273471
exon_skip_71941	chr18	50267517:50267663:50272677:50272738:50272824:50272955	50272677:50272738
exon_skip_82764	chr18	50269738:50269818:50271469:50271540:50272677:50272738	50271469:50271540
exon_skip_91132	chr18	50272848:50272955:50273334:50273471:50273564:50273863	50273334:50273471

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
exon_skip_282401	ROSMAP_PCC	3.981982e-01	4.996203e-01	-1.014221e-01	1.963159e-02
exon_skip_282401	Mayo_CB	3.695122e-01	5.104054e-01	-1.408932e-01	3.475051e-06
exon_skip_282401	Mayo_TC	4.240244e-01	5.558333e-01	-1.318089e-01	1.118225e-07
exon_skip_55016	Mayo_TC	6.762195e-01	7.768421e-01	-1.006226e-01	2.630867e-06

Top

Open reading frame (ORF) annotation in the exon skipping event for MBD1

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
ENST00000269468	50271469	50271540	5CDS-5UTR
ENST00000382948	50271469	50271540	5CDS-5UTR
ENST00000269468	50273334	50273471	In-frame
ENST00000382948	50273334	50273471	In-frame
ENST00000591416	50273334	50273471	In-frame
ENST00000269468	50274186	50274353	In-frame
ENST00000382948	50274186	50274353	In-frame
ENST00000591416	50274186	50274353	In-frame
ENST00000269468	50274977	50275045	In-frame
ENST00000382948	50274977	50275045	In-frame
ENST00000591416	50274977	50275045	In-frame
ENST00000269468	50275835	50275981	In-frame
ENST00000382948	50275835	50275981	In-frame
ENST00000591416	50275835	50275981	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
ENST00000269468	50271469	50271540	5CDS-5UTR
ENST00000382948	50271469	50271540	5CDS-5UTR
ENST00000269468	50273334	50273471	In-frame
ENST00000382948	50273334	50273471	In-frame
ENST00000591416	50273334	50273471	In-frame
ENST00000269468	50274186	50274353	In-frame
ENST00000382948	50274186	50274353	In-frame
ENST00000591416	50274186	50274353	In-frame
ENST00000269468	50274977	50275045	In-frame
ENST00000382948	50274977	50275045	In-frame
ENST00000591416	50274977	50275045	In-frame
ENST00000269468	50275835	50275981	In-frame
ENST00000382948	50275835	50275981	In-frame
ENST00000591416	50275835	50275981	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
ENST00000269468	50271469	50271540	5CDS-5UTR
ENST00000382948	50271469	50271540	5CDS-5UTR
ENST00000269468	50273334	50273471	In-frame
ENST00000382948	50273334	50273471	In-frame
ENST00000591416	50273334	50273471	In-frame
ENST00000269468	50274186	50274353	In-frame
ENST00000382948	50274186	50274353	In-frame
ENST00000591416	50274186	50274353	In-frame
ENST00000269468	50274977	50275045	In-frame
ENST00000382948	50274977	50275045	In-frame
ENST00000591416	50274977	50275045	In-frame
ENST00000269468	50275835	50275981	In-frame
ENST00000382948	50275835	50275981	In-frame
ENST00000591416	50275835	50275981	In-frame

Top

Infer the effects of exon skipping event on protein functional features for MBD1

p-ENSG00000141644_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
ENST00000269468	3276	605	50275835	50275981	954	1099	172	220
ENST00000382948	2451	605	50275835	50275981	954	1099	172	220
ENST00000591416	4922	605	50275835	50275981	949	1094	172	220
ENST00000269468	3276	605	50274977	50275045	1347	1414	303	325
ENST00000382948	2451	605	50274977	50275045	1347	1414	303	325
ENST00000591416	4922	605	50274977	50275045	1342	1409	303	325
ENST00000269468	3276	605	50274186	50274353	1416	1582	326	381
ENST00000382948	2451	605	50274186	50274353	1416	1582	326	381
ENST00000591416	4922	605	50274186	50274353	1411	1577	326	381
ENST00000269468	3276	605	50273334	50273471	1884	2020	482	527
ENST00000382948	2451	605	50273334	50273471	1884	2020	482	527
ENST00000591416	4922	605	50273334	50273471	1879	2015	482	527

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
ENST00000269468	3276	605	50275835	50275981	954	1099	172	220
ENST00000382948	2451	605	50275835	50275981	954	1099	172	220
ENST00000591416	4922	605	50275835	50275981	949	1094	172	220
ENST00000269468	3276	605	50274977	50275045	1347	1414	303	325
ENST00000382948	2451	605	50274977	50275045	1347	1414	303	325
ENST00000591416	4922	605	50274977	50275045	1342	1409	303	325
ENST00000269468	3276	605	50274186	50274353	1416	1582	326	381
ENST00000382948	2451	605	50274186	50274353	1416	1582	326	381
ENST00000591416	4922	605	50274186	50274353	1411	1577	326	381
ENST00000269468	3276	605	50273334	50273471	1884	2020	482	527
ENST00000382948	2451	605	50273334	50273471	1884	2020	482	527
ENST00000591416	4922	605	50273334	50273471	1879	2015	482	527

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
ENST00000269468	3276	605	50275835	50275981	954	1099	172	220
ENST00000382948	2451	605	50275835	50275981	954	1099	172	220
ENST00000591416	4922	605	50275835	50275981	949	1094	172	220
ENST00000269468	3276	605	50274977	50275045	1347	1414	303	325
ENST00000382948	2451	605	50274977	50275045	1347	1414	303	325
ENST00000591416	4922	605	50274977	50275045	1342	1409	303	325
ENST00000269468	3276	605	50274186	50274353	1416	1582	326	381
ENST00000382948	2451	605	50274186	50274353	1416	1582	326	381
ENST00000591416	4922	605	50274186	50274353	1411	1577	326	381
ENST00000269468	3276	605	50273334	50273471	1884	2020	482	527
ENST00000382948	2451	605	50273334	50273471	1884	2020	482	527
ENST00000591416	4922	605	50273334	50273471	1879	2015	482	527

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
Q9UIS9	172	220	173	221	Alternative sequence	ID=VSP_011064;Note=In isoform 5 and isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9207790;Dbxref=PMID:9207790
Q9UIS9	172	220	173	221	Alternative sequence	ID=VSP_011064;Note=In isoform 5 and isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9207790;Dbxref=PMID:9207790
Q9UIS9	172	220	173	221	Alternative sequence	ID=VSP_011064;Note=In isoform 5 and isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9207790;Dbxref=PMID:9207790
Q9UIS9	172	220	177	179	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	177	179	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	177	179	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	172	220	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	172	220	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	172	220	180	183	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	180	183	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	180	183	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	194	196	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	194	196	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	194	196	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	169	216	Zinc finger	Note=CXXC-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	172	220	169	216	Zinc finger	Note=CXXC-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	172	220	169	216	Zinc finger	Note=CXXC-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	172	220	217	263	Zinc finger	Note=CXXC-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	172	220	217	263	Zinc finger	Note=CXXC-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	172	220	217	263	Zinc finger	Note=CXXC-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	303	325	304	326	Alternative sequence	ID=VSP_011065;Note=In isoform 2 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	303	325	304	326	Alternative sequence	ID=VSP_011065;Note=In isoform 2 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	303	325	304	326	Alternative sequence	ID=VSP_011065;Note=In isoform 2 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	303	325	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	303	325	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	303	325	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	303	325	284	313	Compositional bias	Note=Pro-rich
Q9UIS9	303	325	284	313	Compositional bias	Note=Pro-rich
Q9UIS9	303	325	284	313	Compositional bias	Note=Pro-rich
Q9UIS9	326	381	304	326	Alternative sequence	ID=VSP_011065;Note=In isoform 2 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	326	381	304	326	Alternative sequence	ID=VSP_011065;Note=In isoform 2 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	326	381	304	326	Alternative sequence	ID=VSP_011065;Note=In isoform 2 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	326	381	326	382	Alternative sequence	ID=VSP_054736;Note=In isoform 11. LQPYTNRRQNRKCGACAACLRRMDCGRCDFCCDKPKFGGSNQKRQKCRWRQCLQFAM->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	326	382	Alternative sequence	ID=VSP_054736;Note=In isoform 11. LQPYTNRRQNRKCGACAACLRRMDCGRCDFCCDKPKFGGSNQKRQKCRWRQCLQFAM->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	326	382	Alternative sequence	ID=VSP_054736;Note=In isoform 11. LQPYTNRRQNRKCGACAACLRRMDCGRCDFCCDKPKFGGSNQKRQKCRWRQCLQFAM->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	327	382	Alternative sequence	ID=VSP_011066;Note=In isoform 4 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10454587,PMID:15489334
Q9UIS9	326	381	327	382	Alternative sequence	ID=VSP_011066;Note=In isoform 4 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10454587,PMID:15489334
Q9UIS9	326	381	327	382	Alternative sequence	ID=VSP_011066;Note=In isoform 4 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10454587,PMID:15489334
Q9UIS9	326	381	327	327	Alternative sequence	ID=VSP_054737;Note=In isoform 10. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	327	327	Alternative sequence	ID=VSP_054737;Note=In isoform 10. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	327	327	Alternative sequence	ID=VSP_054737;Note=In isoform 10. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	339	341	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	339	341	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	339	341	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	351	353	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	351	353	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	351	353	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	326	381	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	326	381	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	326	381	342	345	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	342	345	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	342	345	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	354	358	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	354	358	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	354	358	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	360	362	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	360	362	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	360	362	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	373	375	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	373	375	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	373	375	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	330	330	Sequence conflict	Note=T->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	330	330	Sequence conflict	Note=T->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	330	330	Sequence conflict	Note=T->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	378	380	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	378	380	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	378	380	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	330	378	Zinc finger	Note=CXXC-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	326	381	330	378	Zinc finger	Note=CXXC-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	326	381	330	378	Zinc finger	Note=CXXC-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	482	527	483	528	Alternative sequence	ID=VSP_011068;Note=In isoform 2%2C isoform 4%2C isoform 6%2C isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	482	527	483	528	Alternative sequence	ID=VSP_011068;Note=In isoform 2%2C isoform 4%2C isoform 6%2C isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	482	527	483	528	Alternative sequence	ID=VSP_011068;Note=In isoform 2%2C isoform 4%2C isoform 6%2C isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	482	527	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	482	527	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	482	527	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	482	527	499	499	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	499	499	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	499	499	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	499	499	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
Q9UIS9	482	527	499	499	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
Q9UIS9	482	527	499	499	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
Q9UIS9	482	527	499	499	Mutagenesis	Note=Abolishes sumoylation%3B when associated with A-538. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	499	499	Mutagenesis	Note=Abolishes sumoylation%3B when associated with A-538. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	499	499	Mutagenesis	Note=Abolishes sumoylation%3B when associated with A-538. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	501	501	Mutagenesis	Note=Abolishes sumoylation%3B when associated with A-540. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	501	501	Mutagenesis	Note=Abolishes sumoylation%3B when associated with A-540. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	501	501	Mutagenesis	Note=Abolishes sumoylation%3B when associated with A-540. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	489	489	Sequence conflict	Note=L->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	482	527	489	489	Sequence conflict	Note=L->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	482	527	489	489	Sequence conflict	Note=L->M;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
Q9UIS9	172	220	173	221	Alternative sequence	ID=VSP_011064;Note=In isoform 5 and isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9207790;Dbxref=PMID:9207790
Q9UIS9	172	220	173	221	Alternative sequence	ID=VSP_011064;Note=In isoform 5 and isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9207790;Dbxref=PMID:9207790
Q9UIS9	172	220	173	221	Alternative sequence	ID=VSP_011064;Note=In isoform 5 and isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9207790;Dbxref=PMID:9207790
Q9UIS9	172	220	177	179	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	177	179	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	177	179	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	172	220	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	172	220	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	172	220	180	183	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	180	183	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	180	183	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	194	196	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	194	196	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	194	196	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	169	216	Zinc finger	Note=CXXC-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	172	220	169	216	Zinc finger	Note=CXXC-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	172	220	169	216	Zinc finger	Note=CXXC-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	172	220	217	263	Zinc finger	Note=CXXC-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	172	220	217	263	Zinc finger	Note=CXXC-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	172	220	217	263	Zinc finger	Note=CXXC-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	303	325	304	326	Alternative sequence	ID=VSP_011065;Note=In isoform 2 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	303	325	304	326	Alternative sequence	ID=VSP_011065;Note=In isoform 2 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	303	325	304	326	Alternative sequence	ID=VSP_011065;Note=In isoform 2 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	303	325	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	303	325	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	303	325	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	303	325	284	313	Compositional bias	Note=Pro-rich
Q9UIS9	303	325	284	313	Compositional bias	Note=Pro-rich
Q9UIS9	303	325	284	313	Compositional bias	Note=Pro-rich
Q9UIS9	326	381	304	326	Alternative sequence	ID=VSP_011065;Note=In isoform 2 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	326	381	304	326	Alternative sequence	ID=VSP_011065;Note=In isoform 2 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	326	381	304	326	Alternative sequence	ID=VSP_011065;Note=In isoform 2 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	326	381	326	382	Alternative sequence	ID=VSP_054736;Note=In isoform 11. LQPYTNRRQNRKCGACAACLRRMDCGRCDFCCDKPKFGGSNQKRQKCRWRQCLQFAM->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	326	382	Alternative sequence	ID=VSP_054736;Note=In isoform 11. LQPYTNRRQNRKCGACAACLRRMDCGRCDFCCDKPKFGGSNQKRQKCRWRQCLQFAM->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	326	382	Alternative sequence	ID=VSP_054736;Note=In isoform 11. LQPYTNRRQNRKCGACAACLRRMDCGRCDFCCDKPKFGGSNQKRQKCRWRQCLQFAM->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	327	382	Alternative sequence	ID=VSP_011066;Note=In isoform 4 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10454587,PMID:15489334
Q9UIS9	326	381	327	382	Alternative sequence	ID=VSP_011066;Note=In isoform 4 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10454587,PMID:15489334
Q9UIS9	326	381	327	382	Alternative sequence	ID=VSP_011066;Note=In isoform 4 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10454587,PMID:15489334
Q9UIS9	326	381	327	327	Alternative sequence	ID=VSP_054737;Note=In isoform 10. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	327	327	Alternative sequence	ID=VSP_054737;Note=In isoform 10. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	327	327	Alternative sequence	ID=VSP_054737;Note=In isoform 10. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	339	341	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	339	341	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	339	341	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	351	353	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	351	353	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	351	353	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	326	381	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	326	381	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	326	381	342	345	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	342	345	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	342	345	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	354	358	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	354	358	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	354	358	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	360	362	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	360	362	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	360	362	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	373	375	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	373	375	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	373	375	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	330	330	Sequence conflict	Note=T->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	330	330	Sequence conflict	Note=T->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	330	330	Sequence conflict	Note=T->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	378	380	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	378	380	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	378	380	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	330	378	Zinc finger	Note=CXXC-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	326	381	330	378	Zinc finger	Note=CXXC-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	326	381	330	378	Zinc finger	Note=CXXC-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	482	527	483	528	Alternative sequence	ID=VSP_011068;Note=In isoform 2%2C isoform 4%2C isoform 6%2C isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	482	527	483	528	Alternative sequence	ID=VSP_011068;Note=In isoform 2%2C isoform 4%2C isoform 6%2C isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	482	527	483	528	Alternative sequence	ID=VSP_011068;Note=In isoform 2%2C isoform 4%2C isoform 6%2C isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	482	527	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	482	527	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	482	527	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	482	527	499	499	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	499	499	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	499	499	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	499	499	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
Q9UIS9	482	527	499	499	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
Q9UIS9	482	527	499	499	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
Q9UIS9	482	527	499	499	Mutagenesis	Note=Abolishes sumoylation%3B when associated with A-538. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	499	499	Mutagenesis	Note=Abolishes sumoylation%3B when associated with A-538. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	499	499	Mutagenesis	Note=Abolishes sumoylation%3B when associated with A-538. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	501	501	Mutagenesis	Note=Abolishes sumoylation%3B when associated with A-540. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	501	501	Mutagenesis	Note=Abolishes sumoylation%3B when associated with A-540. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	501	501	Mutagenesis	Note=Abolishes sumoylation%3B when associated with A-540. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	489	489	Sequence conflict	Note=L->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	482	527	489	489	Sequence conflict	Note=L->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	482	527	489	489	Sequence conflict	Note=L->M;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
Q9UIS9	172	220	173	221	Alternative sequence	ID=VSP_011064;Note=In isoform 5 and isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9207790;Dbxref=PMID:9207790
Q9UIS9	172	220	173	221	Alternative sequence	ID=VSP_011064;Note=In isoform 5 and isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9207790;Dbxref=PMID:9207790
Q9UIS9	172	220	173	221	Alternative sequence	ID=VSP_011064;Note=In isoform 5 and isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9207790;Dbxref=PMID:9207790
Q9UIS9	172	220	177	179	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	177	179	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	177	179	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	172	220	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	172	220	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	172	220	180	183	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	180	183	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	180	183	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	194	196	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	194	196	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	194	196	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4D4W
Q9UIS9	172	220	169	216	Zinc finger	Note=CXXC-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	172	220	169	216	Zinc finger	Note=CXXC-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	172	220	169	216	Zinc finger	Note=CXXC-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	172	220	217	263	Zinc finger	Note=CXXC-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	172	220	217	263	Zinc finger	Note=CXXC-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	172	220	217	263	Zinc finger	Note=CXXC-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	303	325	304	326	Alternative sequence	ID=VSP_011065;Note=In isoform 2 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	303	325	304	326	Alternative sequence	ID=VSP_011065;Note=In isoform 2 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	303	325	304	326	Alternative sequence	ID=VSP_011065;Note=In isoform 2 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	303	325	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	303	325	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	303	325	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	303	325	284	313	Compositional bias	Note=Pro-rich
Q9UIS9	303	325	284	313	Compositional bias	Note=Pro-rich
Q9UIS9	303	325	284	313	Compositional bias	Note=Pro-rich
Q9UIS9	326	381	304	326	Alternative sequence	ID=VSP_011065;Note=In isoform 2 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	326	381	304	326	Alternative sequence	ID=VSP_011065;Note=In isoform 2 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	326	381	304	326	Alternative sequence	ID=VSP_011065;Note=In isoform 2 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	326	381	326	382	Alternative sequence	ID=VSP_054736;Note=In isoform 11. LQPYTNRRQNRKCGACAACLRRMDCGRCDFCCDKPKFGGSNQKRQKCRWRQCLQFAM->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	326	382	Alternative sequence	ID=VSP_054736;Note=In isoform 11. LQPYTNRRQNRKCGACAACLRRMDCGRCDFCCDKPKFGGSNQKRQKCRWRQCLQFAM->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	326	382	Alternative sequence	ID=VSP_054736;Note=In isoform 11. LQPYTNRRQNRKCGACAACLRRMDCGRCDFCCDKPKFGGSNQKRQKCRWRQCLQFAM->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	327	382	Alternative sequence	ID=VSP_011066;Note=In isoform 4 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10454587,PMID:15489334
Q9UIS9	326	381	327	382	Alternative sequence	ID=VSP_011066;Note=In isoform 4 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10454587,PMID:15489334
Q9UIS9	326	381	327	382	Alternative sequence	ID=VSP_011066;Note=In isoform 4 and isoform 7. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10454587,PMID:15489334
Q9UIS9	326	381	327	327	Alternative sequence	ID=VSP_054737;Note=In isoform 10. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	327	327	Alternative sequence	ID=VSP_054737;Note=In isoform 10. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	327	327	Alternative sequence	ID=VSP_054737;Note=In isoform 10. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	339	341	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	339	341	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	339	341	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	351	353	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	351	353	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	351	353	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	326	381	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	326	381	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	326	381	342	345	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	342	345	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	342	345	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	354	358	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	354	358	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	354	358	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	360	362	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	360	362	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	360	362	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	373	375	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	373	375	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	373	375	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	330	330	Sequence conflict	Note=T->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	330	330	Sequence conflict	Note=T->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	330	330	Sequence conflict	Note=T->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	348	349	Sequence conflict	Note=MD->NG;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	326	381	378	380	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	378	380	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	378	380	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5W9Q
Q9UIS9	326	381	330	378	Zinc finger	Note=CXXC-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	326	381	330	378	Zinc finger	Note=CXXC-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	326	381	330	378	Zinc finger	Note=CXXC-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00509
Q9UIS9	482	527	483	528	Alternative sequence	ID=VSP_011068;Note=In isoform 2%2C isoform 4%2C isoform 6%2C isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	482	527	483	528	Alternative sequence	ID=VSP_011068;Note=In isoform 2%2C isoform 4%2C isoform 6%2C isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	482	527	483	528	Alternative sequence	ID=VSP_011068;Note=In isoform 2%2C isoform 4%2C isoform 6%2C isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10454587,ECO:0000303\|Ref.5;Dbxref=PMID:10454587
Q9UIS9	482	527	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	482	527	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	482	527	1	605	Chain	ID=PRO_0000096258;Note=Methyl-CpG-binding domain protein 1
Q9UIS9	482	527	499	499	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	499	499	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	499	499	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	499	499	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
Q9UIS9	482	527	499	499	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
Q9UIS9	482	527	499	499	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
Q9UIS9	482	527	499	499	Mutagenesis	Note=Abolishes sumoylation%3B when associated with A-538. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	499	499	Mutagenesis	Note=Abolishes sumoylation%3B when associated with A-538. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	499	499	Mutagenesis	Note=Abolishes sumoylation%3B when associated with A-538. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	501	501	Mutagenesis	Note=Abolishes sumoylation%3B when associated with A-540. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	501	501	Mutagenesis	Note=Abolishes sumoylation%3B when associated with A-540. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	501	501	Mutagenesis	Note=Abolishes sumoylation%3B when associated with A-540. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17066076;Dbxref=PMID:17066076
Q9UIS9	482	527	489	489	Sequence conflict	Note=L->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	482	527	489	489	Sequence conflict	Note=L->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UIS9	482	527	489	489	Sequence conflict	Note=L->M;Ontology_term=ECO:0000305;evidence=ECO:0000305

Top

3'-UTR located exon skipping events that lost miRNA binding sites in MBD1

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

Top

SNVs in the skipped exons for MBD1

- 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

Top

AD stage-associated exon skippint events for MBD1

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

CDR

MSBB

IFG

exon_skip_91132

3.774233e-01

4.770298e-02

chr18

50272848

50272955

50273334

50273471

50273564

50273863

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MBD1

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
DLPFC	exon_skip_82764	rs1561698	chr18:50332956	3.449081e-04	2.403608e-02

Top

Correlation with RNA binding proteins (RBPs) for MBD1

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	NUP42	exon_skip_282401	4.128486e-01	8.514622e-08
CB	SRSF4	exon_skip_282401	-4.393900e-01	9.556521e-09
CB	RBM6	exon_skip_60014	-4.768348e-01	2.394096e-10
CB	HNRNPA2B1	exon_skip_60014	-4.316680e-01	1.489087e-08
CB	RBM4B	exon_skip_60014	-5.084881e-01	9.052461e-12
CB	PCBP4	exon_skip_204045	4.179041e-01	4.231513e-08
DLPFC	RC3H1	exon_skip_204045	4.927025e-01	1.386044e-21
HCC	RBM6	exon_skip_204045	-5.292123e-01	4.174581e-21
HCC	EIF4G2	exon_skip_204045	-5.266037e-01	7.037236e-21
IFG	SFPQ	exon_skip_55016	-4.382644e-01	2.221958e-02
IFG	SRSF11	exon_skip_55016	-4.520175e-01	1.792968e-02
IFG	HNRNPA2B1	exon_skip_55016	-5.846581e-01	1.361394e-03
IFG	PABPC1	exon_skip_55016	-4.154060e-01	3.117536e-02
IFG	IGF2BP2	exon_skip_204045	-5.247398e-01	4.146198e-03
PCC	RBM6	exon_skip_204045	-4.044653e-01	9.493299e-10
TC	KHDRBS2	exon_skip_82764	4.308731e-01	1.968110e-08
TC	RBM6	exon_skip_204045	-4.183598e-01	4.076690e-08

Top

RelatedDrugs for MBD1

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

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

Top

RelatedDiseases for MBD1

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

Home

Download

Statistics

Landscape

Help

Contact