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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for CTCF |
 Gene summary |
| Gene information | Gene symbol | CTCF | Gene ID | 10664 |
| Gene name | CCCTC-binding factor | |
| Synonyms | 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 | 20180523 | |
| UniProtAcc | P49711 | |
| Context | PubMed: CTCF [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 |
| 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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Exon skipping events across known transcript of Ensembl for CTCF 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 CTCF |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for CTCF |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_137802 | 16 | 67605050:67605167:67644726:67645516:67645853:67646024 | 67644726:67645516 | ENSG00000102974.10 | ENST00000264010.4 |
| exon_skip_137805 | 16 | 67644726:67645516:67645853:67646024:67650647:67650781 | 67645853:67646024 | ENSG00000102974.10 | ENST00000264010.4 |
| exon_skip_137806 | 16 | 67650647:67650781:67654599:67654720:67655344:67655494 | 67654599:67654720 | ENSG00000102974.10 | ENST00000264010.4,ENST00000401394.1 |
| exon_skip_137807 | 16 | 67654599:67654720:67655344:67655494:67660457:67660618 | 67655344:67655494 | ENSG00000102974.10 | ENST00000264010.4,ENST00000401394.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CTCF |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_137802 | 16 | 67605050:67605167:67644726:67645516:67645853:67646024 | 67644726:67645516 | ENSG00000102974.10 | ENST00000264010.4 |
| exon_skip_137805 | 16 | 67644726:67645516:67645853:67646024:67650647:67650781 | 67645853:67646024 | ENSG00000102974.10 | ENST00000264010.4 |
| exon_skip_137806 | 16 | 67650647:67650781:67654599:67654720:67655344:67655494 | 67654599:67654720 | ENSG00000102974.10 | ENST00000264010.4,ENST00000401394.1 |
| exon_skip_137807 | 16 | 67654599:67654720:67655344:67655494:67660457:67660618 | 67655344:67655494 | ENSG00000102974.10 | ENST00000264010.4,ENST00000401394.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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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 TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000264010 | 67644726 | 67645516 | 5CDS-5UTR |
| ENST00000264010 | 67654599 | 67654720 | Frame-shift |
| ENST00000264010 | 67645853 | 67646024 | In-frame |
| ENST00000264010 | 67655344 | 67655494 | 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 |
| ENST00000264010 | 67644726 | 67645516 | 5CDS-5UTR |
| ENST00000264010 | 67654599 | 67654720 | Frame-shift |
| ENST00000264010 | 67645853 | 67646024 | In-frame |
| ENST00000264010 | 67655344 | 67655494 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CTCF |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| 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 |
| ENST00000264010 | 3956 | 727 | 67645853 | 67646024 | 1226 | 1396 | 260 | 317 |
| ENST00000264010 | 3956 | 727 | 67655344 | 67655494 | 1652 | 1801 | 402 | 452 |
| 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 |
| ENST00000264010 | 3956 | 727 | 67645853 | 67646024 | 1226 | 1396 | 260 | 317 |
| ENST00000264010 | 3956 | 727 | 67655344 | 67655494 | 1652 | 1801 | 402 | 452 |
| 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 |
| P49711 | 260 | 317 | 1 | 328 | Alternative sequence | ID=VSP_045350;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5 |
| P49711 | 260 | 317 | 297 | 300 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5T0U |
| P49711 | 260 | 317 | 302 | 305 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5T0U |
| P49711 | 260 | 317 | 1 | 727 | Chain | ID=PRO_0000047228;Note=Transcriptional repressor CTCF |
| P49711 | 260 | 317 | 306 | 316 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5T0U |
| P49711 | 260 | 317 | 289 | 289 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
| P49711 | 260 | 317 | 317 | 317 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
| P49711 | 260 | 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 | 260 | 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 | 260 | 317 | 266 | 288 | Zinc finger | Note=C2H2-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| P49711 | 260 | 317 | 294 | 316 | Zinc finger | Note=C2H2-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| P49711 | 402 | 452 | 406 | 408 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CT1 |
| P49711 | 402 | 452 | 415 | 418 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKQ |
| P49711 | 402 | 452 | 437 | 439 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKQ |
| P49711 | 402 | 452 | 444 | 448 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKQ |
| P49711 | 402 | 452 | 1 | 727 | Chain | ID=PRO_0000047228;Note=Transcriptional repressor CTCF |
| P49711 | 402 | 452 | 391 | 402 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKQ |
| P49711 | 402 | 452 | 419 | 429 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKQ |
| P49711 | 402 | 452 | 431 | 433 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5K5L |
| P49711 | 402 | 452 | 449 | 459 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKQ |
| P49711 | 402 | 452 | 402 | 402 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| P49711 | 402 | 452 | 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 | 402 | 452 | 448 | 448 | Natural variant | ID=VAR_013144;Note=In a Wilms' tumor. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11782357;Dbxref=PMID:11782357 |
| P49711 | 402 | 452 | 410 | 412 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKQ |
| P49711 | 402 | 452 | 440 | 443 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKQ |
| P49711 | 402 | 452 | 407 | 430 | Zinc finger | Note=C2H2-type 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| P49711 | 402 | 452 | 437 | 460 | Zinc finger | Note=C2H2-type 7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| 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 |
| P49711 | 260 | 317 | 1 | 328 | Alternative sequence | ID=VSP_045350;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5 |
| P49711 | 260 | 317 | 297 | 300 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5T0U |
| P49711 | 260 | 317 | 302 | 305 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5T0U |
| P49711 | 260 | 317 | 1 | 727 | Chain | ID=PRO_0000047228;Note=Transcriptional repressor CTCF |
| P49711 | 260 | 317 | 306 | 316 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5T0U |
| P49711 | 260 | 317 | 289 | 289 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
| P49711 | 260 | 317 | 317 | 317 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
| P49711 | 260 | 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 | 260 | 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 | 260 | 317 | 266 | 288 | Zinc finger | Note=C2H2-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| P49711 | 260 | 317 | 294 | 316 | Zinc finger | Note=C2H2-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| P49711 | 402 | 452 | 406 | 408 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CT1 |
| P49711 | 402 | 452 | 415 | 418 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKQ |
| P49711 | 402 | 452 | 437 | 439 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKQ |
| P49711 | 402 | 452 | 444 | 448 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKQ |
| P49711 | 402 | 452 | 1 | 727 | Chain | ID=PRO_0000047228;Note=Transcriptional repressor CTCF |
| P49711 | 402 | 452 | 391 | 402 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKQ |
| P49711 | 402 | 452 | 419 | 429 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKQ |
| P49711 | 402 | 452 | 431 | 433 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5K5L |
| P49711 | 402 | 452 | 449 | 459 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKQ |
| P49711 | 402 | 452 | 402 | 402 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| P49711 | 402 | 452 | 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 | 402 | 452 | 448 | 448 | Natural variant | ID=VAR_013144;Note=In a Wilms' tumor. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11782357;Dbxref=PMID:11782357 |
| P49711 | 402 | 452 | 410 | 412 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKQ |
| P49711 | 402 | 452 | 440 | 443 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5KKQ |
| P49711 | 402 | 452 | 407 | 430 | Zinc finger | Note=C2H2-type 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| P49711 | 402 | 452 | 437 | 460 | Zinc finger | Note=C2H2-type 7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
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SNVs in the skipped exons for CTCF |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
CTCF_BRCA_exon_skip_137802_psi_boxplot.png |
CTCF_BRCA_exon_skip_137805_psi_boxplot.png |
CTCF_COAD_exon_skip_137802_psi_boxplot.png |
CTCF_HNSC_exon_skip_137802_psi_boxplot.png |
CTCF_LIHC_exon_skip_137802_psi_boxplot.png |
CTCF_PAAD_exon_skip_137805_psi_boxplot.png |
CTCF_STAD_exon_skip_137802_psi_boxplot.png |
CTCF_UCEC_exon_skip_137802_psi_boxplot.png |
CTCF_UCS_exon_skip_137802_psi_boxplot.png |
| - 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 |
| UCEC | TCGA-B5-A11X-01 | exon_skip_137802 | 67644727 | 67645516 | 67644787 | 67644787 | Frame_Shift_Del | A | - | p.G19fs |
| UCEC | TCGA-B5-A11X-01 | exon_skip_137802 | 67644727 | 67645516 | 67644787 | 67644787 | Frame_Shift_Del | A | - | p.K18fs |
| BRCA | TCGA-AO-A12B-01 | exon_skip_137802 | 67644727 | 67645516 | 67644796 | 67644799 | Frame_Shift_Del | GAGA | - | p.K23fs |
| BRCA | TCGA-E2-A1L9-01 | exon_skip_137802 | 67644727 | 67645516 | 67644817 | 67644830 | Frame_Shift_Del | CGCCGGGAAGGGGG | - | p.R28fs |
| UCS | TCGA-N5-A4RF-01 | exon_skip_137802 | 67644727 | 67645516 | 67645112 | 67645115 | Frame_Shift_Del | TTGC | - | p.126_127del |
| UCS | TCGA-N5-A4RF-01 | exon_skip_137802 | 67644727 | 67645516 | 67645112 | 67645115 | Frame_Shift_Del | TTGC | - | p.VA126fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_137802 | 67644727 | 67645516 | 67645339 | 67645339 | Frame_Shift_Del | A | - | p.K203fs |
| STAD | TCGA-BR-4256-01 | exon_skip_137802 | 67644727 | 67645516 | 67645339 | 67645339 | Frame_Shift_Del | A | - | p.A201fs |
| STAD | TCGA-BR-8078-01 | exon_skip_137802 | 67644727 | 67645516 | 67645339 | 67645339 | Frame_Shift_Del | A | - | p.A201fs |
| STAD | TCGA-BR-8078-01 | exon_skip_137802 | 67644727 | 67645516 | 67645339 | 67645339 | Frame_Shift_Del | A | - | p.K202fs |
| STAD | TCGA-BR-8363-01 | exon_skip_137802 | 67644727 | 67645516 | 67645339 | 67645339 | Frame_Shift_Del | A | - | p.A201fs |
| STAD | TCGA-BR-8487-01 | exon_skip_137802 | 67644727 | 67645516 | 67645339 | 67645339 | Frame_Shift_Del | A | - | p.A201fs |
| STAD | TCGA-BR-8487-01 | exon_skip_137802 | 67644727 | 67645516 | 67645339 | 67645339 | Frame_Shift_Del | A | - | p.K202fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_137802 | 67644727 | 67645516 | 67645357 | 67645357 | Frame_Shift_Del | A | - | p.K209fs |
| UCEC | TCGA-AX-A05T-01 | exon_skip_137802 | 67644727 | 67645516 | 67645502 | 67645506 | Frame_Shift_Del | AAATT | - | p.I257fs |
| UCEC | TCGA-AX-A05T-01 | exon_skip_137802 | 67644727 | 67645516 | 67645502 | 67645506 | Frame_Shift_Del | AAATT | - | p.K256fs |
| STAD | TCGA-BR-7717-01 | exon_skip_137805 | 67645854 | 67646024 | 67645936 | 67645936 | Frame_Shift_Del | C | - | p.H288fs |
| UCEC | TCGA-A5-A0GH-01 | exon_skip_137805 | 67645854 | 67646024 | 67645967 | 67645968 | Frame_Shift_Del | TG | - | p.C299fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_137805 | 67645854 | 67646024 | 67645992 | 67645992 | Frame_Shift_Del | C | - | p.T307fs |
| UCEC | TCGA-A5-A0GW-01 | exon_skip_137805 | 67645854 | 67646024 | 67646013 | 67646014 | Frame_Shift_Del | AC | - | p.N314fs |
| UCEC | TCGA-A5-A0GW-01 | exon_skip_137805 | 67645854 | 67646024 | 67646013 | 67646014 | Frame_Shift_Del | AC | - | p.T317fs |
| UCEC | TCGA-BG-A0YV-01 | exon_skip_137807 | 67655345 | 67655494 | 67655414 | 67655414 | Frame_Shift_Del | T | - | p.I426fs |
| HNSC | TCGA-BA-5151-01 | exon_skip_137802 | 67644727 | 67645516 | 67645241 | 67645242 | Frame_Shift_Ins | - | G | p.G169fs |
| HNSC | TCGA-BA-5151-01 | exon_skip_137802 | 67644727 | 67645516 | 67645241 | 67645242 | Frame_Shift_Ins | - | G | p.V169fs |
| COAD | TCGA-A6-5665-01 | exon_skip_137802 | 67644727 | 67645516 | 67645275 | 67645276 | Frame_Shift_Ins | - | G | p.Q180fs |
| COAD | TCGA-G4-6309-01 | exon_skip_137802 | 67644727 | 67645516 | 67645309 | 67645310 | Frame_Shift_Ins | - | A | p.Q192fs |
| HNSC | TCGA-F7-A624-01 | exon_skip_137802 | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.AK201fs |
| HNSC | TCGA-UF-A7JD-01 | exon_skip_137802 | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.AK201fs |
| STAD | TCGA-BR-4361-01 | exon_skip_137802 | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.A201fs |
| STAD | TCGA-BR-8081-01 | exon_skip_137802 | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.A201fs |
| STAD | TCGA-BR-8372-01 | exon_skip_137802 | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.A201fs |
| STAD | TCGA-F1-6177-01 | exon_skip_137802 | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.A201fs |
| STAD | TCGA-HU-A4GT-01 | exon_skip_137802 | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | AA | p.A201fs |
| UCEC | TCGA-BS-A0T9-01 | exon_skip_137802 | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.A201fs |
| UCEC | TCGA-BS-A0U8-01 | exon_skip_137802 | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.A201fs |
| UCEC | TCGA-BS-A0UL-01 | exon_skip_137802 | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.A201fs |
| UCEC | TCGA-D1-A0ZS-01 | exon_skip_137802 | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | AA | p.A201fs |
| UCEC | TCGA-D1-A163-01 | exon_skip_137802 | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.A201fs |
| STAD | TCGA-BR-4361-01 | exon_skip_137802 | 67644727 | 67645516 | 67645339 | 67645340 | Frame_Shift_Ins | - | A | p.A201fs |
| STAD | TCGA-BR-8081-01 | exon_skip_137802 | 67644727 | 67645516 | 67645339 | 67645340 | Frame_Shift_Ins | - | A | p.A201fs |
| STAD | TCGA-BR-8372-01 | exon_skip_137802 | 67644727 | 67645516 | 67645339 | 67645340 | Frame_Shift_Ins | - | A | p.A201fs |
| STAD | TCGA-F1-6177-01 | exon_skip_137802 | 67644727 | 67645516 | 67645339 | 67645340 | Frame_Shift_Ins | - | A | p.A201fs |
| STAD | TCGA-HU-A4GT-01 | exon_skip_137802 | 67644727 | 67645516 | 67645339 | 67645340 | Frame_Shift_Ins | - | AA | p.A201fs |
| UCEC | TCGA-AX-A06H-01 | exon_skip_137805 | 67645854 | 67646024 | 67646012 | 67646013 | Frame_Shift_Ins | - | AC | p.N314fs |
| UCEC | TCGA-AX-A06H-01 | exon_skip_137805 | 67645854 | 67646024 | 67646012 | 67646013 | Frame_Shift_Ins | - | AC | p.T318fs |
| UCEC | TCGA-BG-A0M4-01 | exon_skip_137805 | 67645854 | 67646024 | 67646012 | 67646013 | Frame_Shift_Ins | - | AC | p.N314fs |
| UCEC | TCGA-BG-A0M4-01 | exon_skip_137805 | 67645854 | 67646024 | 67646012 | 67646013 | Frame_Shift_Ins | - | AC | p.T318fs |
| UCEC | TCGA-D1-A161-01 | 67654600 | 67654720 | 67654681 | 67654682 | Frame_Shift_Ins | - | GT | p.D390fs | |
| BRCA | TCGA-E2-A156-01 | exon_skip_137802 | 67644727 | 67645516 | 67644796 | 67644796 | Nonsense_Mutation | G | T | p.E21* |
| UCEC | TCGA-BG-A0LX-01 | exon_skip_137802 | 67644727 | 67645516 | 67644949 | 67644949 | Nonsense_Mutation | C | T | p.Q72* |
| BLCA | TCGA-DK-AA71-01 | exon_skip_137802 | 67644727 | 67645516 | 67645045 | 67645045 | Nonsense_Mutation | G | T | p.E104* |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_137802 | 67644727 | 67645516 | 67645069 | 67645069 | Nonsense_Mutation | G | T | p.E112* |
| BLCA | TCGA-DK-AA6M-01 | exon_skip_137802 | 67644727 | 67645516 | 67645084 | 67645084 | Nonsense_Mutation | C | T | p.Q117* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_137802 | 67644727 | 67645516 | 67645132 | 67645132 | Nonsense_Mutation | G | T | p.E133* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_137802 | 67644727 | 67645516 | 67645132 | 67645132 | Nonsense_Mutation | G | T | p.E133X |
| UCEC | TCGA-D1-A0ZV-01 | exon_skip_137802 | 67644727 | 67645516 | 67645168 | 67645168 | Nonsense_Mutation | G | T | p.E145* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_137802 | 67644727 | 67645516 | 67645270 | 67645270 | Nonsense_Mutation | G | T | p.E179* |
| UCEC | TCGA-B5-A11R-01 | exon_skip_137802 | 67644727 | 67645516 | 67645273 | 67645273 | Nonsense_Mutation | C | T | p.Q180* |
| UCEC | TCGA-BG-A0M9-01 | exon_skip_137802 | 67644727 | 67645516 | 67645273 | 67645273 | Nonsense_Mutation | C | T | p.Q180* |
| UCEC | TCGA-A5-A0GM-01 | exon_skip_137802 | 67644727 | 67645516 | 67645291 | 67645291 | Nonsense_Mutation | C | T | p.Q186* |
| BRCA | TCGA-AN-A0AT-01 | exon_skip_137802 | 67644727 | 67645516 | 67645308 | 67645308 | Nonsense_Mutation | G | A | p.W191* |
| UCEC | TCGA-BK-A0C9-01 | exon_skip_137802 | 67644727 | 67645516 | 67645326 | 67645326 | Nonsense_Mutation | T | A | p.Y197* |
| UCEC | TCGA-BK-A0C9-01 | exon_skip_137802 | 67644727 | 67645516 | 67645327 | 67645327 | Nonsense_Mutation | C | T | p.Q198* |
| PAAD | TCGA-IB-7651-01 | exon_skip_137805 | 67645854 | 67646024 | 67645871 | 67645871 | Nonsense_Mutation | C | T | p.Q267* |
| PAAD | TCGA-IB-7651-01 | exon_skip_137805 | 67645854 | 67646024 | 67645871 | 67645871 | Nonsense_Mutation | C | T | p.Q267X |
| BLCA | TCGA-XF-AAN7-01 | 67654600 | 67654720 | 67654639 | 67654639 | Nonsense_Mutation | G | T | p.E376* | |
| BRCA | TCGA-C8-A12T-01 | exon_skip_137807 | 67655345 | 67655494 | 67655431 | 67655431 | Nonsense_Mutation | G | T | p.E432* |
| HNSC | TCGA-CQ-5334-01 | exon_skip_137807 | 67655345 | 67655494 | 67655479 | 67655479 | Nonsense_Mutation | C | T | p.R448* |
| UCEC | TCGA-A5-A0GI-01 | exon_skip_137807 | 67655345 | 67655494 | 67655479 | 67655479 | Nonsense_Mutation | C | T | p.R448* |
| UCEC | TCGA-A5-A0GP-01 | exon_skip_137807 | 67655345 | 67655494 | 67655479 | 67655479 | Nonsense_Mutation | C | T | p.R448* |
| UCEC | TCGA-B5-A11Y-01 | exon_skip_137807 | 67655345 | 67655494 | 67655479 | 67655479 | Nonsense_Mutation | C | T | p.R448* |
| UCEC | TCGA-BG-A0M4-01 | exon_skip_137807 | 67655345 | 67655494 | 67655479 | 67655479 | Nonsense_Mutation | C | T | p.R448* |
| UCEC | TCGA-BS-A0T9-01 | exon_skip_137807 | 67655345 | 67655494 | 67655479 | 67655479 | Nonsense_Mutation | C | T | p.R448* |
| UCEC | TCGA-D1-A16Q-01 | exon_skip_137807 | 67655345 | 67655494 | 67655479 | 67655479 | Nonsense_Mutation | C | T | p.R448* |
| UCEC | TCGA-A5-A0GM-01 | exon_skip_137802 | 67644727 | 67645516 | 67645517 | 67645517 | Splice_Site | G | A | e1+1 |
| UCEC | TCGA-A5-A0GM-01 | exon_skip_137802 | 67644727 | 67645516 | 67645517 | 67645517 | Splice_Site | G | A | p.G261_splice |
| BRCA | TCGA-B6-A0RI-01 | exon_skip_137802 | 67644727 | 67645516 | 67645518 | 67645518 | Splice_Site | T | G | e1+2 |
| BRCA | TCGA-A2-A0YF-01 | exon_skip_137805 | 67645854 | 67646024 | 67645853 | 67645854 | Splice_Site | - | TAC | e2-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-A2-A0YF-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_137805 | |
| Skipped exon start: 67645854 | |
| Skipped exon end: 67646024 | |
| Mutation start: 67645853 | |
| Mutation end: 67645854 | |
| Mutation type: Splice_Site | |
| Reference seq: - | |
| Mutation seq: TAC | |
| AAchange: e2-1 | |
exon_skip_137805_BRCA_TCGA-A2-A0YF-01.png | |
 | Sample: TCGA-BR-8372-01 |
| Cancer type: STAD | |
| ESID: exon_skip_137802 | |
| Skipped exon start: 67644727 | |
| Skipped exon end: 67645516 | |
| Mutation start: 67645338 | |
| Mutation end: 67645339 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: A | |
| AAchange: p.A201fs | |
| Sample: TCGA-BR-8372-01 |
| Cancer type: STAD | |
| ESID: exon_skip_137802 | |
| Skipped exon start: 67644727 | |
| Skipped exon end: 67645516 | |
| Mutation start: 67645339 | |
| Mutation end: 67645340 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: A | |
| AAchange: p.A201fs | |
exon_skip_112411_STAD_TCGA-BR-8372-01.png | |
exon_skip_135114_STAD_TCGA-BR-8372-01.png | |
exon_skip_137802_STAD_TCGA-BR-8372-01.png | |
exon_skip_347779_STAD_TCGA-BR-8372-01.png | |
exon_skip_347781_STAD_TCGA-BR-8372-01.png | |
exon_skip_45789_STAD_TCGA-BR-8372-01.png | |
exon_skip_484840_STAD_TCGA-BR-8372-01.png | |
exon_skip_5861_STAD_TCGA-BR-8372-01.png | |
exon_skip_79676_STAD_TCGA-BR-8372-01.png | |
| - 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 |
| SKUT1_SOFT_TISSUE | 67644727 | 67645516 | 67645310 | 67645310 | Frame_Shift_Del | A | - | p.Q192fs |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67644727 | 67645516 | 67645339 | 67645339 | Frame_Shift_Del | A | - | p.K203fs |
| JHUEM1_ENDOMETRIUM | 67644727 | 67645516 | 67645339 | 67645339 | Frame_Shift_Del | A | - | p.K203fs |
| NCIH630_LARGE_INTESTINE | 67644727 | 67645516 | 67645339 | 67645339 | Frame_Shift_Del | A | - | p.K203fs |
| JHUEM2_ENDOMETRIUM | 67655345 | 67655494 | 67655446 | 67655446 | Frame_Shift_Del | T | - | p.F437fs |
| GP2D_LARGE_INTESTINE | 67644727 | 67645516 | 67645287 | 67645288 | Frame_Shift_Ins | - | C | p.P185fs |
| GP5D_LARGE_INTESTINE | 67644727 | 67645516 | 67645287 | 67645288 | Frame_Shift_Ins | - | C | p.P185fs |
| C33A_CERVIX | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.K202fs |
| DL40_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.K202fs |
| HEC59_ENDOMETRIUM | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.K202fs |
| HEC6_ENDOMETRIUM | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.K202fs |
| 2313287_STOMACH | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.K202fs |
| EFO27_OVARY | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.K202fs |
| AN3CA_ENDOMETRIUM | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.K202fs |
| CCK81_LARGE_INTESTINE | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.K202fs |
| IGROV1_OVARY | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.K202fs |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.K202fs |
| LS180_LARGE_INTESTINE | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.K202fs |
| MFE319_ENDOMETRIUM | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.K202fs |
| OVK18_OVARY | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.K202fs |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.K202fs |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.K202fs |
| SNUC5_LARGE_INTESTINE | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.K202fs |
| TGBC11TKB_STOMACH | 67644727 | 67645516 | 67645338 | 67645339 | Frame_Shift_Ins | - | A | p.K202fs |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67655345 | 67655494 | 67655454 | 67655455 | Frame_Shift_Ins | - | C | p.P440fs |
| CORL88_LUNG | 67644727 | 67645516 | 67644773 | 67644773 | Missense_Mutation | C | T | p.S13F |
| LOVO_LARGE_INTESTINE | 67644727 | 67645516 | 67644869 | 67644869 | Missense_Mutation | C | T | p.T45M |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67644727 | 67645516 | 67644926 | 67644926 | Missense_Mutation | A | G | p.E64G |
| SNU324_PANCREAS | 67644727 | 67645516 | 67644977 | 67644977 | Missense_Mutation | C | T | p.T81I |
| NCIH3255_LUNG | 67644727 | 67645516 | 67645106 | 67645106 | Missense_Mutation | T | C | p.V124A |
| SW756_CERVIX | 67644727 | 67645516 | 67645132 | 67645132 | Missense_Mutation | G | A | p.E133K |
| LS411N_LARGE_INTESTINE | 67644727 | 67645516 | 67645184 | 67645184 | Missense_Mutation | G | C | p.S150T |
| SNU1040_LARGE_INTESTINE | 67644727 | 67645516 | 67645195 | 67645195 | Missense_Mutation | A | G | p.I154V |
| MCC13_SKIN | 67644727 | 67645516 | 67645414 | 67645414 | Missense_Mutation | G | A | p.D227N |
| NCIH2227_LUNG | 67644727 | 67645516 | 67645414 | 67645414 | Missense_Mutation | G | T | p.D227Y |
| NCIH1048_LUNG | 67644727 | 67645516 | 67645477 | 67645477 | Missense_Mutation | A | G | p.N248D |
| JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67644727 | 67645516 | 67645489 | 67645489 | Missense_Mutation | C | T | p.P252S |
| GMEL_SKIN | 67644727 | 67645516 | 67645511 | 67645511 | Missense_Mutation | A | G | p.K259R |
| RL952_ENDOMETRIUM | 67645854 | 67646024 | 67645904 | 67645904 | Missense_Mutation | C | T | p.R278C |
| SNU407_LARGE_INTESTINE | 67645854 | 67646024 | 67645920 | 67645920 | Missense_Mutation | G | A | p.R283H |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67645854 | 67646024 | 67646022 | 67646022 | Missense_Mutation | C | T | p.T317I |
| MFE296_ENDOMETRIUM | 67654600 | 67654720 | 67654620 | 67654620 | Missense_Mutation | C | A | p.H369Q |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67654600 | 67654720 | 67654642 | 67654642 | Missense_Mutation | C | T | p.R377C |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67654600 | 67654720 | 67654642 | 67654642 | Missense_Mutation | C | T | p.R377C |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67654600 | 67654720 | 67654642 | 67654642 | Missense_Mutation | C | T | p.R377C |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67654600 | 67654720 | 67654642 | 67654642 | Missense_Mutation | C | T | p.R377C |
| MFE296_ENDOMETRIUM | 67655345 | 67655494 | 67655347 | 67655347 | Missense_Mutation | G | A | p.E404K |
| HEC1_ENDOMETRIUM | 67644727 | 67645516 | 67644790 | 67644790 | Nonsense_Mutation | G | T | p.G19* |
| HEC1B_ENDOMETRIUM | 67644727 | 67645516 | 67644790 | 67644790 | Nonsense_Mutation | G | T | p.G19* |
| A2058_SKIN | 67644727 | 67645516 | 67645069 | 67645069 | Nonsense_Mutation | G | T | p.E112* |
| JHUEM7_ENDOMETRIUM | 67644727 | 67645516 | 67645200 | 67645200 | Nonsense_Mutation | C | A | p.C155* |
| HCC2998_LARGE_INTESTINE | 67654600 | 67654720 | 67654610 | 67654610 | Nonsense_Mutation | T | G | p.L366* |
| SNGM_ENDOMETRIUM | 67654600 | 67654720 | 67654636 | 67654636 | Nonsense_Mutation | G | T | p.G375* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CTCF |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CTCF |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CTCF |
Top |
RelatedDrugs for CTCF |
| 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 |
Top |
RelatedDiseases for CTCF |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CTCF | C0036341 | Schizophrenia | 1 | PSYGENET |
| CTCF | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human |
| CTCF | C1860789 | Leukemia, Megakaryoblastic, of Down Syndrome | 1 | CTD_human |
| CTCF | C3809686 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 | 1 | ORPHANET;UNIPROT |
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