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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 OCA2 |
 Gene summary |
| Gene information | Gene symbol | OCA2 | Gene ID | 4948 |
| Gene name | OCA2 melanosomal transmembrane protein | |
| Synonyms | BEY|BEY1|BEY2|BOCA|D15S12|EYCL|EYCL2|EYCL3|HCL3|P|PED|SHEP1 | |
| Cytomap | 15q12-q13.1 | |
| Type of gene | protein-coding | |
| Description | P proteinP-proteineye color 2 (central brown)eye color 3 (brown)hair color 3 (brown)melanocyte-specific transporter proteinoculocutaneous albinism II (pink-eye dilution homolog, mouse)pink-eyed dilution protein homologtotal brown iris pigmentation | |
| Modification date | 20180519 | |
| UniProtAcc | Q04671 | |
| Context | PubMed: OCA2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Exon skipping events across known transcript of Ensembl for OCA2 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 OCA2 |
| 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 OCA2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_125565 | 15 | 28000020:28000618:28090104:28090198:28096527:28096621 | 28090104:28090198 | ENSG00000104044.11 | ENST00000354638.3,ENST00000353809.5 |
| exon_skip_125573 | 15 | 28090104:28090198:28096527:28096621:28116299:28116404 | 28096527:28096621 | ENSG00000104044.11 | ENST00000354638.3,ENST00000353809.5 |
| exon_skip_125584 | 15 | 28116299:28116404:28117008:28117068:28171272:28171400 | 28117008:28117068 | ENSG00000104044.11 | ENST00000354638.3,ENST00000353809.5 |
| exon_skip_125587 | 15 | 28117008:28117068:28171272:28171400:28196929:28197038 | 28171272:28171400 | ENSG00000104044.11 | ENST00000354638.3,ENST00000353809.5 |
| exon_skip_125592 | 15 | 28171272:28171400:28196929:28197038:28200303:28200361 | 28196929:28197038 | ENSG00000104044.11 | ENST00000354638.3,ENST00000353809.5 |
| exon_skip_125594 | 15 | 28202733:28202881:28211835:28211968:28228490:28228629 | 28211835:28211968 | ENSG00000104044.11 | ENST00000382996.2,ENST00000354638.3,ENST00000353809.5 |
| exon_skip_125595 | 15 | 28231732:28231789:28234746:28234812:28259921:28260075 | 28234746:28234812 | ENSG00000104044.11 | ENST00000353809.5 |
| exon_skip_125596 | 15 | 28234746:28234812:28235721:28235793:28259921:28260075 | 28235721:28235793 | ENSG00000104044.11 | ENST00000382996.2,ENST00000354638.3 |
| exon_skip_125597 | 15 | 28273016:28273205:28277210:28277309:28326793:28327041 | 28277210:28277309 | ENSG00000104044.11 | ENST00000445578.1,ENST00000382996.2,ENST00000354638.3,ENST00000431101.1,ENST00000353809.5 |
| exon_skip_125599 | 15 | 28277210:28277309:28326793:28327041:28344369:28344442 | 28326793:28327041 | ENSG00000104044.11 | ENST00000445578.1,ENST00000382996.2,ENST00000354638.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for OCA2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_125565 | 15 | 28000020:28000618:28090104:28090198:28096527:28096621 | 28090104:28090198 | ENSG00000104044.11 | ENST00000353809.5,ENST00000354638.3 |
| exon_skip_125573 | 15 | 28090104:28090198:28096527:28096621:28116299:28116404 | 28096527:28096621 | ENSG00000104044.11 | ENST00000353809.5,ENST00000354638.3 |
| exon_skip_125584 | 15 | 28116299:28116404:28117008:28117068:28171272:28171400 | 28117008:28117068 | ENSG00000104044.11 | ENST00000353809.5,ENST00000354638.3 |
| exon_skip_125587 | 15 | 28117008:28117068:28171272:28171400:28196929:28197038 | 28171272:28171400 | ENSG00000104044.11 | ENST00000353809.5,ENST00000354638.3 |
| exon_skip_125592 | 15 | 28171272:28171400:28196929:28197038:28200303:28200361 | 28196929:28197038 | ENSG00000104044.11 | ENST00000353809.5,ENST00000354638.3 |
| exon_skip_125594 | 15 | 28202733:28202881:28211835:28211968:28228490:28228629 | 28211835:28211968 | ENSG00000104044.11 | ENST00000353809.5,ENST00000354638.3,ENST00000382996.2 |
| exon_skip_125595 | 15 | 28231732:28231789:28234746:28234812:28259921:28260075 | 28234746:28234812 | ENSG00000104044.11 | ENST00000353809.5 |
| exon_skip_125596 | 15 | 28234746:28234812:28235721:28235793:28259921:28260075 | 28235721:28235793 | ENSG00000104044.11 | ENST00000354638.3,ENST00000382996.2 |
| exon_skip_125597 | 15 | 28273016:28273205:28277210:28277309:28326793:28327041 | 28277210:28277309 | ENSG00000104044.11 | ENST00000353809.5,ENST00000354638.3,ENST00000382996.2,ENST00000445578.1,ENST00000431101.1 |
| exon_skip_125599 | 15 | 28277210:28277309:28326793:28327041:28344369:28344442 | 28326793:28327041 | ENSG00000104044.11 | ENST00000354638.3,ENST00000382996.2,ENST00000445578.1 |
| 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 OCA2 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for OCA2 |
| 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 OCA2 |
| - 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-F4-6856-01 | exon_skip_125565 | 28090105 | 28090198 | 28090108 | 28090108 | Frame_Shift_Del | A | - | p.F810fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_125565 | 28090105 | 28090198 | 28090152 | 28090152 | Frame_Shift_Del | C | - | p.G795fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_125573 | 28096528 | 28096621 | 28096590 | 28096590 | Frame_Shift_Del | G | - | p.P759fs |
| LGG | TCGA-HT-7479-01 | exon_skip_125587 | 28171273 | 28171400 | 28171297 | 28171297 | Frame_Shift_Del | A | - | p.A686fs |
| LGG | TCGA-HT-7479-01 | exon_skip_125587 | 28171273 | 28171400 | 28171297 | 28171297 | Frame_Shift_Del | A | - | p.F685fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_125587 | 28171273 | 28171400 | 28171297 | 28171297 | Frame_Shift_Del | A | - | p.F685fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_125594 | 28211836 | 28211968 | 28211923 | 28211923 | Frame_Shift_Del | A | - | p.C517fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_125594 | 28211836 | 28211968 | 28211927 | 28211927 | Frame_Shift_Del | C | - | p.G515fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_125599 | 28326794 | 28327041 | 28326858 | 28326858 | Frame_Shift_Del | C | - | p.A56fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_125599 | 28326794 | 28327041 | 28326858 | 28326858 | Frame_Shift_Del | C | - | p.A56fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_125599 | 28326794 | 28327041 | 28326899 | 28326899 | Frame_Shift_Del | C | - | p.G41fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_125587 | 28171273 | 28171400 | 28171296 | 28171297 | Frame_Shift_Ins | - | A | p.A685fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_125587 | 28171273 | 28171400 | 28171296 | 28171297 | Frame_Shift_Ins | - | A | p.S686fs |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_125565 | 28090105 | 28090198 | 28090115 | 28090115 | Nonsense_Mutation | C | A | p.E808* |
| LUAD | TCGA-17-Z055-01 | exon_skip_125565 | 28090105 | 28090198 | 28090145 | 28090145 | Nonsense_Mutation | C | A | p.E798* |
| COAD | TCGA-AZ-4315-01 | exon_skip_125584 | 28117009 | 28117068 | 28117044 | 28117044 | Nonsense_Mutation | C | A | p.E702X |
| LUAD | TCGA-MP-A4TI-01 | exon_skip_125584 | 28117009 | 28117068 | 28117044 | 28117044 | Nonsense_Mutation | C | A | p.E702* |
| READ | TCGA-AG-A002-01 | exon_skip_125584 | 28117009 | 28117068 | 28117044 | 28117044 | Nonsense_Mutation | C | A | p.E702X |
| LUAD | TCGA-55-7815-01 | exon_skip_125596 | 28235722 | 28235793 | 28235784 | 28235784 | Nonsense_Mutation | T | A | p.R352* |
| KIRP | TCGA-BQ-7044-01 | exon_skip_125565 | 28090105 | 28090198 | 28090200 | 28090200 | Splice_Site | T | A | . |
| KIRP | TCGA-BQ-7044-01 | exon_skip_125565 | 28090105 | 28090198 | 28090200 | 28090200 | Splice_Site | T | A | p.G780_splice |
| LUSC | TCGA-21-5786-01 | exon_skip_125573 | 28096528 | 28096621 | 28096622 | 28096622 | Splice_Site | C | A | p.I749_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| HEC251_ENDOMETRIUM | 28090105 | 28090198 | 28090127 | 28090127 | Missense_Mutation | A | G | p.F804L |
| NCIH23_LUNG | 28090105 | 28090198 | 28090153 | 28090153 | Missense_Mutation | C | A | p.G795V |
| HCC827GR5_LUNG | 28090105 | 28090198 | 28090166 | 28090166 | Missense_Mutation | C | T | p.V791I |
| HCC827_LUNG | 28090105 | 28090198 | 28090166 | 28090166 | Missense_Mutation | C | T | p.V791I |
| HCC1954_BREAST | 28096528 | 28096621 | 28096549 | 28096549 | Missense_Mutation | C | T | p.A773T |
| SNU601_STOMACH | 28096528 | 28096621 | 28096595 | 28096595 | Missense_Mutation | G | T | p.H757Q |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28096528 | 28096621 | 28096598 | 28096598 | Missense_Mutation | G | C | p.S756R |
| HT144_SKIN | 28117009 | 28117068 | 28117022 | 28117022 | Missense_Mutation | G | A | p.A709V |
| COLO678_LARGE_INTESTINE | 28117009 | 28117068 | 28117025 | 28117025 | Missense_Mutation | G | A | p.T708I |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28171273 | 28171400 | 28171284 | 28171284 | Missense_Mutation | C | T | p.V690I |
| NCIH2066_LUNG | 28171273 | 28171400 | 28171313 | 28171313 | Missense_Mutation | G | T | p.A680E |
| NCIH810_LUNG | 28171273 | 28171400 | 28171347 | 28171347 | Missense_Mutation | C | A | p.D669Y |
| SISO_CERVIX | 28171273 | 28171400 | 28171367 | 28171367 | Missense_Mutation | A | G | p.L662P |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28171273 | 28171400 | 28171367 | 28171367 | Missense_Mutation | A | G | p.L662P |
| NCIH630_LARGE_INTESTINE | 28171273 | 28171400 | 28171385 | 28171385 | Missense_Mutation | A | T | p.L656Q |
| GP5D_LARGE_INTESTINE | 28196930 | 28197038 | 28197016 | 28197016 | Missense_Mutation | A | C | p.L622R |
| NCIH2342_LUNG | 28211836 | 28211968 | 28211873 | 28211873 | Missense_Mutation | G | T | p.N533K |
| SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28211836 | 28211968 | 28211878 | 28211878 | Missense_Mutation | A | G | p.W532R |
| OVCAR8_OVARY | 28235722 | 28235793 | 28235763 | 28235763 | Missense_Mutation | C | G | p.G359R |
| UWB1289_OVARY | 28326794 | 28327041 | 28326866 | 28326866 | Missense_Mutation | G | C | p.P52R |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28326794 | 28327041 | 28326894 | 28326894 | Missense_Mutation | C | T | p.G43S |
| HCC95_LUNG | 28326794 | 28327041 | 28326927 | 28326927 | Missense_Mutation | C | G | p.V32L |
| HEC108_ENDOMETRIUM | 28326794 | 28327041 | 28326971 | 28326971 | Missense_Mutation | A | G | p.V17A |
| MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28326794 | 28327041 | 28327004 | 28327004 | Missense_Mutation | C | G | p.R6T |
| KM12_LARGE_INTESTINE | 28326794 | 28327041 | 28327013 | 28327013 | Missense_Mutation | A | T | p.L3Q |
| HCC15_LUNG | 28171273 | 28171400 | 28171275 | 28171275 | Nonsense_Mutation | C | A | p.E693* |
| PACADD137_PANCREAS | 28117009 | 28117068 | 28117068 | 28117068 | Splice_Site | C | T | p.A694T |
| MM415_SKIN | 28196930 | 28197038 | 28197038 | 28197038 | Splice_Site | G | A | p.H615Y |
| DAOY_CENTRAL_NERVOUS_SYSTEM | 28235722 | 28235793 | 28235722 | 28235722 | Splice_Site | A | C | p.D372E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for OCA2 |
| 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 |
| exon_skip_125596 | 15 | 28234746:28234812:28235721:28235793:28259921:28260075 | 28235721:28235793 | ENST00000382996.2,ENST00000354638.3 | UVM | rs1800404 | chr15:28235773 | C/T | 1.29e-06 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for OCA2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for OCA2 |
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RelatedDrugs for OCA2 |
| 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 OCA2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| OCA2 | C0268495 | Oculocutaneous albinism type 2 | 8 | CTD_human;ORPHANET;UNIPROT |
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