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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 OTX2 |
 Gene summary |
| Gene information | Gene symbol | OTX2 | Gene ID | 5015 |
| Gene name | orthodenticle homeobox 2 | |
| Synonyms | CPHD6|MCOPS5 | |
| Cytomap | 14q22.3 | |
| Type of gene | protein-coding | |
| Description | homeobox protein OTX2orthodenticle homolog 2 | |
| Modification date | 20180519 | |
| UniProtAcc | P32243 | |
| Context | PubMed: OTX2 [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 |
| OTX2 | GO:0007411 | axon guidance | 16267555 |
| OTX2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12559959|20530484 |
| OTX2 | GO:0065003 | protein-containing complex assembly | 20530484 |
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Exon skipping events across known transcript of Ensembl for OTX2 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 OTX2 |
| 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 OTX2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_113494 | 14 | 57268832:57269073:57270905:57271057:57272077:57272293 | 57270905:57271057 | ENSG00000165588.12 | ENST00000555804.1,ENST00000555006.1,ENST00000408990.3 |
| exon_skip_113495 | 14 | 57268832:57269073:57270905:57271081:57272077:57272293 | 57270905:57271081 | ENSG00000165588.12 | ENST00000339475.5,ENST00000554845.1 |
| exon_skip_113496 | 14 | 57272077:57272293:57273421:57273441:57276876:57276940 | 57273421:57273441 | ENSG00000165588.12 | ENST00000555804.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for OTX2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_113494 | 14 | 57268832:57269073:57270905:57271057:57272077:57272293 | 57270905:57271057 | ENSG00000165588.12 | ENST00000408990.3,ENST00000555006.1,ENST00000555804.1 |
| exon_skip_113495 | 14 | 57268832:57269073:57270905:57271081:57272077:57272293 | 57270905:57271081 | ENSG00000165588.12 | ENST00000339475.5,ENST00000554845.1 |
| exon_skip_113496 | 14 | 57272077:57272293:57273421:57273441:57276876:57276940 | 57273421:57273441 | ENSG00000165588.12 | ENST00000555804.1 |
| 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 OTX2 |
| 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 |
| ENST00000408990 | 57270905 | 57271057 | Frame-shift |
| ENST00000555006 | 57270905 | 57271057 | Frame-shift |
| 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 |
| ENST00000408990 | 57270905 | 57271057 | Frame-shift |
| ENST00000555006 | 57270905 | 57271057 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for OTX2 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for OTX2 |
| - 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. |
| - 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 |
| COAD | TCGA-AD-6889-01 | exon_skip_113494 | 57270906 | 57271057 | 57271049 | 57271049 | Frame_Shift_Del | G | - | p.R44fs |
| COAD | TCGA-AD-6889-01 | exon_skip_113495 | 57270906 | 57271081 | 57271049 | 57271049 | Frame_Shift_Del | G | - | p.R44fs |
| COAD | TCGA-D5-6540-01 | exon_skip_113494 | 57270906 | 57271057 | 57271049 | 57271049 | Frame_Shift_Del | G | - | p.R44fs |
| COAD | TCGA-D5-6540-01 | exon_skip_113495 | 57270906 | 57271081 | 57271049 | 57271049 | Frame_Shift_Del | G | - | p.R44fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_113494 | 57270906 | 57271057 | 57271049 | 57271049 | Frame_Shift_Del | G | - | p.R44fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_113495 | 57270906 | 57271081 | 57271049 | 57271049 | Frame_Shift_Del | G | - | p.R44fs |
| STAD | TCGA-BR-4361-01 | exon_skip_113494 | 57270906 | 57271057 | 57271049 | 57271049 | Frame_Shift_Del | G | - | p.R44fs |
| STAD | TCGA-BR-4361-01 | exon_skip_113495 | 57270906 | 57271081 | 57271049 | 57271049 | Frame_Shift_Del | G | - | p.R44fs |
| STAD | TCGA-BR-4368-01 | exon_skip_113494 | 57270906 | 57271057 | 57271049 | 57271049 | Frame_Shift_Del | G | - | p.R44fs |
| STAD | TCGA-BR-4368-01 | exon_skip_113495 | 57270906 | 57271081 | 57271049 | 57271049 | Frame_Shift_Del | G | - | p.R44fs |
| STAD | TCGA-CD-A4MG-01 | exon_skip_113494 | 57270906 | 57271057 | 57271049 | 57271049 | Frame_Shift_Del | G | - | p.R44fs |
| STAD | TCGA-CD-A4MG-01 | exon_skip_113495 | 57270906 | 57271081 | 57271049 | 57271049 | Frame_Shift_Del | G | - | p.R44fs |
| STAD | TCGA-CG-5723-01 | exon_skip_113494 | 57270906 | 57271057 | 57271049 | 57271049 | Frame_Shift_Del | G | - | p.R44fs |
| STAD | TCGA-CG-5723-01 | exon_skip_113495 | 57270906 | 57271081 | 57271049 | 57271049 | Frame_Shift_Del | G | - | p.R44fs |
| STAD | TCGA-HU-A4GN-01 | exon_skip_113494 | 57270906 | 57271057 | 57271049 | 57271049 | Frame_Shift_Del | G | - | p.R44fs |
| STAD | TCGA-HU-A4GN-01 | exon_skip_113495 | 57270906 | 57271081 | 57271049 | 57271049 | Frame_Shift_Del | G | - | p.R44fs |
| STAD | TCGA-HU-A4H8-01 | exon_skip_113494 | 57270906 | 57271057 | 57271049 | 57271049 | Frame_Shift_Del | G | - | p.R36fs |
| STAD | TCGA-HU-A4H8-01 | exon_skip_113495 | 57270906 | 57271081 | 57271049 | 57271049 | Frame_Shift_Del | G | - | p.R36fs |
| ESCA | TCGA-JY-A6F8-01 | exon_skip_113494 | 57270906 | 57271057 | 57270953 | 57270953 | Nonsense_Mutation | G | A | p.R76* |
| ESCA | TCGA-JY-A6F8-01 | exon_skip_113494 | 57270906 | 57271057 | 57270953 | 57270953 | Nonsense_Mutation | G | A | p.R76X |
| ESCA | TCGA-JY-A6F8-01 | exon_skip_113495 | 57270906 | 57271081 | 57270953 | 57270953 | Nonsense_Mutation | G | A | p.R76* |
| ESCA | TCGA-JY-A6F8-01 | exon_skip_113495 | 57270906 | 57271081 | 57270953 | 57270953 | Nonsense_Mutation | G | A | p.R76X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| SKMEL2_SKIN | 57270906 | 57271081 | 57271049 | 57271049 | Frame_Shift_Del | G | - | p.R36fs |
| SKMEL2_SKIN | 57270906 | 57271057 | 57271049 | 57271049 | Frame_Shift_Del | G | - | p.R36fs |
| HEC6_ENDOMETRIUM | 57270906 | 57271081 | 57271049 | 57271049 | Frame_Shift_Del | G | - | p.R36fs |
| HEC6_ENDOMETRIUM | 57270906 | 57271057 | 57271049 | 57271049 | Frame_Shift_Del | G | - | p.R36fs |
| TOV21G_OVARY | 57270906 | 57271081 | 57271049 | 57271049 | Frame_Shift_Del | G | - | p.R36fs |
| TOV21G_OVARY | 57270906 | 57271057 | 57271049 | 57271049 | Frame_Shift_Del | G | - | p.R36fs |
| HEC251_ENDOMETRIUM | 57270906 | 57271081 | 57270916 | 57270916 | Missense_Mutation | G | A | p.S80L |
| HEC251_ENDOMETRIUM | 57270906 | 57271057 | 57270916 | 57270916 | Missense_Mutation | G | A | p.S80L |
| EHEB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57270906 | 57271081 | 57270962 | 57270962 | Missense_Mutation | T | C | p.I65V |
| EHEB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57270906 | 57271057 | 57270962 | 57270962 | Missense_Mutation | T | C | p.I65V |
| NCIH838_LUNG | 57270906 | 57271081 | 57270967 | 57270967 | Missense_Mutation | G | T | p.P63Q |
| NCIH838_LUNG | 57270906 | 57271057 | 57270967 | 57270967 | Missense_Mutation | G | T | p.P63Q |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57270906 | 57271081 | 57271012 | 57271012 | Missense_Mutation | G | A | p.A48V |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57270906 | 57271057 | 57271012 | 57271012 | Missense_Mutation | G | A | p.A48V |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57270906 | 57271081 | 57271016 | 57271016 | Missense_Mutation | G | A | p.R47W |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57270906 | 57271057 | 57271016 | 57271016 | Missense_Mutation | G | A | p.R47W |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57270906 | 57271081 | 57271027 | 57271027 | Missense_Mutation | G | A | p.T43M |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57270906 | 57271057 | 57271027 | 57271027 | Missense_Mutation | G | A | p.T43M |
| SNU175_LARGE_INTESTINE | 57270906 | 57271081 | 57271034 | 57271034 | Missense_Mutation | C | T | p.E41K |
| SNU175_LARGE_INTESTINE | 57270906 | 57271057 | 57271034 | 57271034 | Missense_Mutation | C | T | p.E41K |
| RL952_ENDOMETRIUM | 57270906 | 57271081 | 57271037 | 57271037 | Missense_Mutation | G | A | p.R40W |
| RL952_ENDOMETRIUM | 57270906 | 57271057 | 57271037 | 57271037 | Missense_Mutation | G | A | p.R40W |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for OTX2 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for OTX2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for OTX2 |
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RelatedDrugs for OTX2 |
| 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 |
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RelatedDiseases for OTX2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| OTX2 | C1864690 | Microphthalmia, Syndromic 5 | 3 | CTD_human;ORPHANET;UNIPROT |
| OTX2 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| OTX2 | C0015923 | Fetal Alcohol Syndrome | 1 | PSYGENET |
| OTX2 | C0022360 | Jaw Abnormalities | 1 | CTD_human |
| OTX2 | C0025149 | Medulloblastoma | 1 | CTD_human |
| OTX2 | C0027746 | Nerve Degeneration | 1 | CTD_human |
| OTX2 | C0036341 | Schizophrenia | 1 | PSYGENET |
| OTX2 | C2985290 | Fetal Alcohol Spectrum Disorders | 1 | PSYGENET |
| OTX2 | C3151380 | SCHIZOPHRENIA 15 | 1 | PSYGENET |
| OTX2 | C3151440 | PITUITARY HORMONE DEFICIENCY, COMBINED, 6 | 1 | UNIPROT |
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