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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 OCRL |
 Gene summary |
| Gene information | Gene symbol | OCRL | Gene ID | 4952 |
| Gene name | OCRL, inositol polyphosphate-5-phosphatase | |
| Synonyms | INPP5F|LOCR|NPHL2|OCRL-1|OCRL1 | |
| Cytomap | Xq26.1 | |
| Type of gene | protein-coding | |
| Description | inositol polyphosphate 5-phosphatase OCRL-1Lowe oculocerebrorenal syndrome proteinoculocerebrorenal syndrome of Lowephosphatidylinositol polyphosphate 5-phosphatase | |
| Modification date | 20180523 | |
| UniProtAcc | Q01968 | |
| Context | PubMed: OCRL [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 |
| OCRL | GO:0043087 | regulation of GTPase activity | 12915445 |
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Exon skipping events across known transcript of Ensembl for OCRL 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 OCRL |
| 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 OCRL |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_512316 | X | 128682539:128682578:128683624:128683894:128691301:128691412 | 128683624:128683894 | ENSG00000122126.11 | ENST00000486673.1 |
| exon_skip_512318 | X | 128691301:128691412:128691837:128691927:128692609:128692730 | 128691837:128691927 | ENSG00000122126.11 | ENST00000486673.1,ENST00000357121.5,ENST00000371113.4 |
| exon_skip_512319 | X | 128692816:128692978:128694526:128694628:128695155:128695270 | 128694526:128694628 | ENSG00000122126.11 | ENST00000357121.5,ENST00000371113.4 |
| exon_skip_512320 | X | 128709116:128709227:128709873:128710039:128710293:128710529 | 128709873:128710039 | ENSG00000122126.11 | ENST00000357121.5,ENST00000371113.4 |
| exon_skip_512321 | X | 128710293:128710529:128718320:128718344:128720978:128721095 | 128718320:128718344 | ENSG00000122126.11 | ENST00000371113.4 |
| exon_skip_512323 | X | 128722862:128722990:128723821:128723933:128724122:128724610 | 128723821:128723933 | ENSG00000122126.11 | ENST00000357121.5,ENST00000371113.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for OCRL |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_512318 | X | 128691301:128691412:128691837:128691927:128692609:128692730 | 128691837:128691927 | ENSG00000122126.11 | ENST00000486673.1,ENST00000371113.4,ENST00000357121.5 |
| exon_skip_512319 | X | 128692816:128692978:128694526:128694628:128695155:128695270 | 128694526:128694628 | ENSG00000122126.11 | ENST00000371113.4,ENST00000357121.5 |
| exon_skip_512320 | X | 128709116:128709227:128709873:128710039:128710293:128710529 | 128709873:128710039 | ENSG00000122126.11 | ENST00000371113.4,ENST00000357121.5 |
| exon_skip_512321 | X | 128710293:128710529:128718320:128718344:128720978:128721095 | 128718320:128718344 | ENSG00000122126.11 | ENST00000371113.4 |
| exon_skip_512323 | X | 128722862:128722990:128723821:128723933:128724122:128724610 | 128723821:128723933 | ENSG00000122126.11 | ENST00000371113.4,ENST00000357121.5 |
| 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 OCRL |
| 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 |
| ENST00000371113 | 128709873 | 128710039 | Frame-shift |
| ENST00000371113 | 128723821 | 128723933 | Frame-shift |
| ENST00000371113 | 128691837 | 128691927 | In-frame |
| ENST00000371113 | 128694526 | 128694628 | In-frame |
| ENST00000371113 | 128718320 | 128718344 | 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 |
| ENST00000371113 | 128709873 | 128710039 | Frame-shift |
| ENST00000371113 | 128723821 | 128723933 | Frame-shift |
| ENST00000371113 | 128691837 | 128691927 | In-frame |
| ENST00000371113 | 128694526 | 128694628 | In-frame |
| ENST00000371113 | 128718320 | 128718344 | In-frame |
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Infer the effects of exon skipping event on protein functional features for OCRL |
| 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 |
| ENST00000371113 | 5179 | 901 | 128691837 | 128691927 | 515 | 604 | 116 | 146 |
| ENST00000371113 | 5179 | 901 | 128694526 | 128694628 | 888 | 989 | 241 | 274 |
| 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 |
| ENST00000371113 | 5179 | 901 | 128691837 | 128691927 | 515 | 604 | 116 | 146 |
| ENST00000371113 | 5179 | 901 | 128694526 | 128694628 | 888 | 989 | 241 | 274 |
| 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 OCRL |
| - 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. |
OCRL_LGG_exon_skip_512323_psi_boxplot.png |
OCRL_LUSC_exon_skip_512323_psi_boxplot.png |
OCRL_SKCM_exon_skip_512323_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 |
| STAD | TCGA-RD-A8MV-01 | exon_skip_512318 | 128691838 | 128691927 | 128691919 | 128691919 | Frame_Shift_Del | T | - | p.V144fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_512320 | 128709874 | 128710039 | 128709951 | 128709951 | Frame_Shift_Del | C | - | p.C597fs |
| STAD | TCGA-HF-A5NB-01 | exon_skip_512319 | 128694527 | 128694628 | 128694527 | 128694528 | Frame_Shift_Ins | - | T | p.R241fs |
| SKCM | TCGA-EE-A181-06 | exon_skip_512323 | 128723822 | 128723933 | 128723831 | 128723831 | Nonsense_Mutation | C | T | p.Q827* |
| LGG | TCGA-DU-6392-01 | exon_skip_512323 | 128723822 | 128723933 | 128723882 | 128723882 | Nonsense_Mutation | C | T | p.R844* |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_512323 | 128723822 | 128723933 | 128723882 | 128723882 | Nonsense_Mutation | C | T | p.R844* |
| LUSC | TCGA-85-6561-01 | exon_skip_512320 | 128709874 | 128710039 | 128710040 | 128710040 | Splice_Site | G | T | p.N627_splice |
| LUSC | TCGA-43-3394-01 | exon_skip_512323 | 128723822 | 128723933 | 128723821 | 128723821 | Splice_Site | G | T | p.V824_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-43-3394-01 |
| Cancer type: LUSC | |
| ESID: exon_skip_512323 | |
| Skipped exon start: 128723822 | |
| Skipped exon end: 128723933 | |
| Mutation start: 128723821 | |
| Mutation end: 128723821 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.V824_splice | |
exon_skip_291361_LUSC_TCGA-43-3394-01.png | |
exon_skip_433795_LUSC_TCGA-43-3394-01.png | |
exon_skip_512323_LUSC_TCGA-43-3394-01.png | |
exon_skip_92560_LUSC_TCGA-43-3394-01.png | |
exon_skip_92567_LUSC_TCGA-43-3394-01.png | |
exon_skip_92572_LUSC_TCGA-43-3394-01.png | |
exon_skip_92573_LUSC_TCGA-43-3394-01.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 |
| HCC515_LUNG | 128709874 | 128710039 | 128709938 | 128709938 | Missense_Mutation | G | T | p.G593V |
| SNUC5_LARGE_INTESTINE | 128709874 | 128710039 | 128710010 | 128710010 | Missense_Mutation | C | T | p.A617V |
| UBLC1_URINARY_TRACT | 128709874 | 128710039 | 128710033 | 128710033 | Missense_Mutation | G | A | p.E625K |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 128718321 | 128718344 | 128718334 | 128718334 | Missense_Mutation | T | A | p.F710Y |
| SNU175_LARGE_INTESTINE | 128723822 | 128723933 | 128723870 | 128723870 | Missense_Mutation | A | T | p.M840L |
| CL34_LARGE_INTESTINE | 128723822 | 128723933 | 128723883 | 128723883 | Missense_Mutation | G | A | p.R844Q |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128718321 | 128718344 | 128718339 | 128718339 | Nonsense_Mutation | G | T | p.E712* |
| JHUEM7_ENDOMETRIUM | 128723822 | 128723933 | 128723882 | 128723882 | Nonsense_Mutation | C | T | p.R844* |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 128694527 | 128694628 | 128694527 | 128694527 | Splice_Site | A | G | p.R241R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for OCRL |
| 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 OCRL |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for OCRL |
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RelatedDrugs for OCRL |
| 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 OCRL |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| OCRL | C0028860 | Oculocerebrorenal Syndrome | 9 | CTD_human;ORPHANET;UNIPROT |
| OCRL | C1845167 | Dent Disease 2 | 3 | CTD_human;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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