ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for CTCF

Gene summary

Gene information	Gene symbol	CTCF
	Gene ID	10664
	Gene name	CCCTC-binding factor
	Synonyms	CFAP108\|FAP108\|MRD21
	Cytomap	16q22.1
	Type of gene	protein-coding
	Description	transcriptional repressor CTCF11 zinc finger transcriptional repressor11-zinc finger proteinCCCTC-binding factor (zinc finger protein)CTCFL paralog
	Modification date	20200313
	UniProtAcc	A0A2R8Y595, A0A2R8Y6C1, A0A2R8Y6Z6, A0A2R8YFL0, P49711,
	Context

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

Gene	GO ID	GO term	PubMed ID
CTCF	GO:0000122	negative regulation of transcription by RNA polymerase II	8649389
CTCF	GO:0016584	nucleosome positioning	18654629
CTCF	GO:0045892	negative regulation of transcription, DNA-templated	8649389\|18413740
CTCF	GO:0045893	positive regulation of transcription, DNA-templated	9407128

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Gene structures and expression levels for CTCF

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.

ENSG00000102974

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
CB	DOWN	ENST00000401394.6	CTCF-202:protein_coding:CTCF	8.187922e+01	-1.499037e+00	3.229048e-03	1.370729e-02
TC	DOWN	ENST00000401394.6	CTCF-202:protein_coding:CTCF	4.109191e+01	-1.866966e+00	8.883005e-04	9.017125e-03
TC	DOWN	ENST00000644950.1	CTCF-211:retained_intron:CTCF	4.203178e+00	-1.924751e+00	1.384069e-03	1.265871e-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 CTCF

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_174877	chr16	67621442:67621591:67623320:67623409:67626555:67626715	67623320:67623409
exon_skip_182193	chr16	67629398:67629533:67635515:67635632:67636690:67636851	67635515:67635632
exon_skip_62304	chr16	67610827:67611613:67611951:67612121:67616745:67616878	67611951:67612121

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 CTCF

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
ENST00000264010	67611951	67612121	In-frame
ENST00000642819	67611951	67612121	In-frame
ENST00000644753	67611951	67612121	In-frame
ENST00000645699	67611951	67612121	In-frame
ENST00000646076	67611951	67612121	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

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
ENST00000264010	67611951	67612121	In-frame
ENST00000642819	67611951	67612121	In-frame
ENST00000644753	67611951	67612121	In-frame
ENST00000645699	67611951	67612121	In-frame
ENST00000646076	67611951	67612121	In-frame

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

p-ENSG00000102974_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
ENST00000264010	3958	727	67611951	67612121	1227	1396	261	317
ENST00000642819	3992	727	67611951	67612121	1284	1453	261	317
ENST00000644753	3730	727	67611951	67612121	1009	1178	261	317
ENST00000645699	3538	727	67611951	67612121	1026	1195	261	317
ENST00000646076	4006	727	67611951	67612121	1284	1453	261	317

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

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
ENST00000264010	3958	727	67611951	67612121	1227	1396	261	317
ENST00000642819	3992	727	67611951	67612121	1284	1453	261	317
ENST00000644753	3730	727	67611951	67612121	1009	1178	261	317
ENST00000645699	3538	727	67611951	67612121	1026	1195	261	317
ENST00000646076	4006	727	67611951	67612121	1284	1453	261	317

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
P49711	261	317	1	328	Alternative sequence	ID=VSP_045350;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.5
P49711	261	317	1	328	Alternative sequence	ID=VSP_045350;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.5
P49711	261	317	1	328	Alternative sequence	ID=VSP_045350;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.5
P49711	261	317	1	328	Alternative sequence	ID=VSP_045350;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.5
P49711	261	317	1	328	Alternative sequence	ID=VSP_045350;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.5
P49711	261	317	297	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	297	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	297	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	297	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	297	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	302	305	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	302	305	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	302	305	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	302	305	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	302	305	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	1	727	Chain	ID=PRO_0000047228;Note=Transcriptional repressor CTCF
P49711	261	317	1	727	Chain	ID=PRO_0000047228;Note=Transcriptional repressor CTCF
P49711	261	317	1	727	Chain	ID=PRO_0000047228;Note=Transcriptional repressor CTCF
P49711	261	317	1	727	Chain	ID=PRO_0000047228;Note=Transcriptional repressor CTCF
P49711	261	317	1	727	Chain	ID=PRO_0000047228;Note=Transcriptional repressor CTCF
P49711	261	317	306	316	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	306	316	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	306	316	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	306	316	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	306	316	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	289	289	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P49711	261	317	289	289	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P49711	261	317	289	289	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P49711	261	317	289	289	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P49711	261	317	289	289	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P49711	261	317	317	317	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P49711	261	317	317	317	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P49711	261	317	317	317	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P49711	261	317	317	317	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P49711	261	317	317	317	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P49711	261	317	19	727	Natural variant	ID=VAR_079374;Note=Found in an endometrial carcinoma sample%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28319062;Dbxref=PMID:28319062
P49711	261	317	19	727	Natural variant	ID=VAR_079374;Note=Found in an endometrial carcinoma sample%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28319062;Dbxref=PMID:28319062
P49711	261	317	19	727	Natural variant	ID=VAR_079374;Note=Found in an endometrial carcinoma sample%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28319062;Dbxref=PMID:28319062
P49711	261	317	19	727	Natural variant	ID=VAR_079374;Note=Found in an endometrial carcinoma sample%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28319062;Dbxref=PMID:28319062
P49711	261	317	19	727	Natural variant	ID=VAR_079374;Note=Found in an endometrial carcinoma sample%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28319062;Dbxref=PMID:28319062
P49711	261	317	278	278	Natural variant	ID=VAR_079375;Note=Found in an endometrial carcinoma sample%3B no effect on its nuclear localization%3B loss of its ability to inhibit cell proliferation%3B unknown pathological significance. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2831
P49711	261	317	278	278	Natural variant	ID=VAR_079375;Note=Found in an endometrial carcinoma sample%3B no effect on its nuclear localization%3B loss of its ability to inhibit cell proliferation%3B unknown pathological significance. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2831
P49711	261	317	278	278	Natural variant	ID=VAR_079375;Note=Found in an endometrial carcinoma sample%3B no effect on its nuclear localization%3B loss of its ability to inhibit cell proliferation%3B unknown pathological significance. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2831
P49711	261	317	278	278	Natural variant	ID=VAR_079375;Note=Found in an endometrial carcinoma sample%3B no effect on its nuclear localization%3B loss of its ability to inhibit cell proliferation%3B unknown pathological significance. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2831
P49711	261	317	278	278	Natural variant	ID=VAR_079375;Note=Found in an endometrial carcinoma sample%3B no effect on its nuclear localization%3B loss of its ability to inhibit cell proliferation%3B unknown pathological significance. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2831
P49711	261	317	266	288	Zinc finger	Note=C2H2-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042
P49711	261	317	266	288	Zinc finger	Note=C2H2-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042
P49711	261	317	266	288	Zinc finger	Note=C2H2-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042
P49711	261	317	266	288	Zinc finger	Note=C2H2-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042
P49711	261	317	266	288	Zinc finger	Note=C2H2-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042
P49711	261	317	294	316	Zinc finger	Note=C2H2-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042
P49711	261	317	294	316	Zinc finger	Note=C2H2-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042
P49711	261	317	294	316	Zinc finger	Note=C2H2-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042
P49711	261	317	294	316	Zinc finger	Note=C2H2-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042
P49711	261	317	294	316	Zinc finger	Note=C2H2-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042

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

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
P49711	261	317	1	328	Alternative sequence	ID=VSP_045350;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.5
P49711	261	317	1	328	Alternative sequence	ID=VSP_045350;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.5
P49711	261	317	1	328	Alternative sequence	ID=VSP_045350;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.5
P49711	261	317	1	328	Alternative sequence	ID=VSP_045350;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.5
P49711	261	317	1	328	Alternative sequence	ID=VSP_045350;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.5
P49711	261	317	297	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	297	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	297	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	297	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	297	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	302	305	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	302	305	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	302	305	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	302	305	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	302	305	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	1	727	Chain	ID=PRO_0000047228;Note=Transcriptional repressor CTCF
P49711	261	317	1	727	Chain	ID=PRO_0000047228;Note=Transcriptional repressor CTCF
P49711	261	317	1	727	Chain	ID=PRO_0000047228;Note=Transcriptional repressor CTCF
P49711	261	317	1	727	Chain	ID=PRO_0000047228;Note=Transcriptional repressor CTCF
P49711	261	317	1	727	Chain	ID=PRO_0000047228;Note=Transcriptional repressor CTCF
P49711	261	317	306	316	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	306	316	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	306	316	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	306	316	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	306	316	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5T0U
P49711	261	317	289	289	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P49711	261	317	289	289	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P49711	261	317	289	289	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P49711	261	317	289	289	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P49711	261	317	289	289	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P49711	261	317	317	317	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P49711	261	317	317	317	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P49711	261	317	317	317	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P49711	261	317	317	317	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P49711	261	317	317	317	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:20068231;Dbxref=PMID:20068231
P49711	261	317	19	727	Natural variant	ID=VAR_079374;Note=Found in an endometrial carcinoma sample%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28319062;Dbxref=PMID:28319062
P49711	261	317	19	727	Natural variant	ID=VAR_079374;Note=Found in an endometrial carcinoma sample%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28319062;Dbxref=PMID:28319062
P49711	261	317	19	727	Natural variant	ID=VAR_079374;Note=Found in an endometrial carcinoma sample%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28319062;Dbxref=PMID:28319062
P49711	261	317	19	727	Natural variant	ID=VAR_079374;Note=Found in an endometrial carcinoma sample%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28319062;Dbxref=PMID:28319062
P49711	261	317	19	727	Natural variant	ID=VAR_079374;Note=Found in an endometrial carcinoma sample%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28319062;Dbxref=PMID:28319062
P49711	261	317	278	278	Natural variant	ID=VAR_079375;Note=Found in an endometrial carcinoma sample%3B no effect on its nuclear localization%3B loss of its ability to inhibit cell proliferation%3B unknown pathological significance. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2831
P49711	261	317	278	278	Natural variant	ID=VAR_079375;Note=Found in an endometrial carcinoma sample%3B no effect on its nuclear localization%3B loss of its ability to inhibit cell proliferation%3B unknown pathological significance. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2831
P49711	261	317	278	278	Natural variant	ID=VAR_079375;Note=Found in an endometrial carcinoma sample%3B no effect on its nuclear localization%3B loss of its ability to inhibit cell proliferation%3B unknown pathological significance. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2831
P49711	261	317	278	278	Natural variant	ID=VAR_079375;Note=Found in an endometrial carcinoma sample%3B no effect on its nuclear localization%3B loss of its ability to inhibit cell proliferation%3B unknown pathological significance. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2831
P49711	261	317	278	278	Natural variant	ID=VAR_079375;Note=Found in an endometrial carcinoma sample%3B no effect on its nuclear localization%3B loss of its ability to inhibit cell proliferation%3B unknown pathological significance. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2831
P49711	261	317	266	288	Zinc finger	Note=C2H2-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042
P49711	261	317	266	288	Zinc finger	Note=C2H2-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042
P49711	261	317	266	288	Zinc finger	Note=C2H2-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042
P49711	261	317	266	288	Zinc finger	Note=C2H2-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042
P49711	261	317	266	288	Zinc finger	Note=C2H2-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042
P49711	261	317	294	316	Zinc finger	Note=C2H2-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042
P49711	261	317	294	316	Zinc finger	Note=C2H2-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042
P49711	261	317	294	316	Zinc finger	Note=C2H2-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042
P49711	261	317	294	316	Zinc finger	Note=C2H2-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042
P49711	261	317	294	316	Zinc finger	Note=C2H2-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00042

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

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

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SNVs in the skipped exons for CTCF

- 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 CTCF

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 CTCF

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

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Correlation with RNA binding proteins (RBPs) for CTCF

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

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RelatedDrugs for CTCF

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

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for CTCF

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for CTCF

Gene structures and expression levels for CTCF

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

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

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

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

SNVs in the skipped exons for CTCF

AD stage-associated exon skippint events for CTCF

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

Correlation with RNA binding proteins (RBPs) for CTCF

RelatedDrugs for CTCF

RelatedDiseases for CTCF