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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 WDR81 |
 Gene summary |
| Gene information | Gene symbol | WDR81 | Gene ID | 124997 |
| Gene name | WD repeat domain 81 | |
| Synonyms | CAMRQ2|PPP1R166|SORF-2 | |
| Cytomap | 17p13.3 | |
| Type of gene | protein-coding | |
| Description | WD repeat-containing protein 81protein phosphatase 1, regulatory subunit 166 | |
| Modification date | 20180519 | |
| UniProtAcc | Q562E7 | |
| Context | PubMed: WDR81 [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 |
| WDR81 | GO:0010923 | negative regulation of phosphatase activity | 19389623 |
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Exon skipping events across known transcript of Ensembl for WDR81 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 WDR81 |
| 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 WDR81 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_147537 | 17 | 1619840:1619927:1631283:1631920:1633673:1633781 | 1631283:1631920 | ENSG00000167716.14 | ENST00000309182.5 |
| exon_skip_147548 | 17 | 1631503:1631920:1633673:1633781:1634048:1634221 | 1633673:1633781 | ENSG00000167716.14 | ENST00000464528.1,ENST00000309182.5,ENST00000409644.1 |
| exon_skip_147552 | 17 | 1634048:1634239:1634361:1634552:1635618:1635784 | 1634361:1634552 | ENSG00000167716.14 | ENST00000419248.1,ENST00000464528.1,ENST00000446363.1,ENST00000437219.2,ENST00000309182.5,ENST00000409644.1 |
| exon_skip_147563 | 17 | 1635959:1636125:1636820:1637510:1638865:1639011 | 1636820:1637510 | ENSG00000167716.14 | ENST00000419248.1,ENST00000464528.1,ENST00000446363.1,ENST00000437219.2,ENST00000309182.5,ENST00000409644.1,ENST00000545662.1 |
| exon_skip_147575 | 17 | 1638865:1639011:1639332:1639512:1640658:1641448 | 1639332:1639512 | ENSG00000167716.14 | ENST00000419248.1,ENST00000446363.1,ENST00000437219.2,ENST00000309182.5,ENST00000409644.1,ENST00000545662.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for WDR81 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_147537 | 17 | 1619840:1619927:1631283:1631920:1633673:1633781 | 1631283:1631920 | ENSG00000167716.14 | ENST00000309182.5 |
| exon_skip_147548 | 17 | 1631503:1631920:1633673:1633781:1634048:1634221 | 1633673:1633781 | ENSG00000167716.14 | ENST00000309182.5,ENST00000409644.1,ENST00000464528.1 |
| exon_skip_147552 | 17 | 1634048:1634239:1634361:1634552:1635618:1635784 | 1634361:1634552 | ENSG00000167716.14 | ENST00000437219.2,ENST00000309182.5,ENST00000446363.1,ENST00000419248.1,ENST00000409644.1,ENST00000464528.1 |
| exon_skip_147563 | 17 | 1635959:1636125:1636820:1637510:1638865:1639011 | 1636820:1637510 | ENSG00000167716.14 | ENST00000437219.2,ENST00000309182.5,ENST00000446363.1,ENST00000419248.1,ENST00000409644.1,ENST00000464528.1,ENST00000545662.1 |
| exon_skip_147575 | 17 | 1638865:1639011:1639332:1639512:1640658:1641448 | 1639332:1639512 | ENSG00000167716.14 | ENST00000437219.2,ENST00000309182.5,ENST00000446363.1,ENST00000419248.1,ENST00000409644.1,ENST00000545662.1 |
| 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 WDR81 |
| 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 WDR81 |
| 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 WDR81 |
| - 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 |
| STAD | TCGA-HU-A4GX-01 | exon_skip_147537 | 1631284 | 1631920 | 1631634 | 1631634 | Frame_Shift_Del | G | - | p.E1127fs |
| BLCA | TCGA-GC-A3I6-01 | exon_skip_147537 | 1631284 | 1631920 | 1631642 | 1631642 | Frame_Shift_Del | C | - | p.A1130fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_147548 | 1633674 | 1633781 | 1633717 | 1633717 | Frame_Shift_Del | C | - | p.G1237fs |
| PRAD | TCGA-KK-A59V-01 | exon_skip_147563 | 1636821 | 1637510 | 1637102 | 1637102 | Frame_Shift_Del | G | - | p.G1592fs |
| PRAD | TCGA-KK-A59V-01 | exon_skip_147563 | 1636821 | 1637510 | 1637102 | 1637102 | Frame_Shift_Del | G | - | p.G363fs |
| CESC | TCGA-C5-A1BI-01 | exon_skip_147575 | 1639333 | 1639512 | 1639342 | 1639342 | Nonsense_Mutation | C | T | p.R1779* |
| COAD | TCGA-A6-6780-01 | exon_skip_147575 | 1639333 | 1639512 | 1639342 | 1639342 | Nonsense_Mutation | C | T | p.R728X |
| ESCA | TCGA-IG-A3QL-01 | exon_skip_147575 | 1639333 | 1639512 | 1639332 | 1639332 | Splice_Site | G | T | . |
| ESCA | TCGA-IG-A3QL-01 | exon_skip_147575 | 1639333 | 1639512 | 1639332 | 1639332 | Splice_Site | G | T | e9-1 |
| - 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 |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1636821 | 1637510 | 1637089 | 1637089 | Frame_Shift_Del | G | - | p.S1586fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 1636821 | 1637510 | 1637157 | 1637158 | Frame_Shift_Del | GC | - | p.S1609fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 1636821 | 1637510 | 1637161 | 1637162 | Frame_Shift_Ins | - | CC | p.H1611fs |
| WM1552C_SKIN | 1631284 | 1631920 | 1631291 | 1631291 | Missense_Mutation | C | T | p.A1013V |
| SNU1040_LARGE_INTESTINE | 1631284 | 1631920 | 1631296 | 1631296 | Missense_Mutation | G | A | p.A1015T |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1631284 | 1631920 | 1631330 | 1631330 | Missense_Mutation | C | T | p.A1026V |
| HEC265_ENDOMETRIUM | 1631284 | 1631920 | 1631371 | 1631371 | Missense_Mutation | G | T | p.G1040W |
| MEWO_SKIN | 1631284 | 1631920 | 1631405 | 1631405 | Missense_Mutation | C | T | p.P1051L |
| SCC9_UPPER_AERODIGESTIVE_TRACT | 1631284 | 1631920 | 1631476 | 1631476 | Missense_Mutation | G | A | p.D1075N |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1631284 | 1631920 | 1631573 | 1631573 | Missense_Mutation | G | A | p.R1107Q |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1631284 | 1631920 | 1631597 | 1631597 | Missense_Mutation | G | A | p.S1115N |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1631284 | 1631920 | 1631789 | 1631789 | Missense_Mutation | C | A | p.S1179Y |
| IGROV1_OVARY | 1634362 | 1634552 | 1634429 | 1634429 | Missense_Mutation | C | T | p.A1345V |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1636821 | 1637510 | 1636893 | 1636893 | Missense_Mutation | T | C | p.I1521T |
| HEC151_ENDOMETRIUM | 1636821 | 1637510 | 1636908 | 1636908 | Missense_Mutation | G | A | p.R1526H |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1636821 | 1637510 | 1636908 | 1636908 | Missense_Mutation | G | A | p.R1526H |
| MAC2A_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1636821 | 1637510 | 1636933 | 1636934 | Missense_Mutation | CA | TG | p.M1535V |
| SKMEL24_SKIN | 1636821 | 1637510 | 1636937 | 1636937 | Missense_Mutation | C | G | p.P1536A |
| GEO_LARGE_INTESTINE | 1636821 | 1637510 | 1636988 | 1636988 | Missense_Mutation | G | T | p.D1553Y |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1636821 | 1637510 | 1637013 | 1637013 | Missense_Mutation | G | T | p.S1561I |
| PACADD137_PANCREAS | 1636821 | 1637510 | 1637055 | 1637055 | Missense_Mutation | G | A | p.R1575Q |
| IGROV1_OVARY | 1636821 | 1637510 | 1637088 | 1637088 | Missense_Mutation | C | T | p.S1586L |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1636821 | 1637510 | 1637093 | 1637093 | Missense_Mutation | G | A | p.V1588M |
| SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1636821 | 1637510 | 1637109 | 1637109 | Missense_Mutation | T | C | p.L1593P |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1636821 | 1637510 | 1637111 | 1637111 | Missense_Mutation | G | A | p.G1594S |
| MERO84_LUNG | 1636821 | 1637510 | 1637159 | 1637159 | Missense_Mutation | G | A | p.V1610M |
| RERFLCAD1_LUNG | 1636821 | 1637510 | 1637179 | 1637179 | Missense_Mutation | C | A | p.N1616K |
| TEN_ENDOMETRIUM | 1636821 | 1637510 | 1637186 | 1637186 | Missense_Mutation | G | T | p.A1619S |
| VAESBJ_SOFT_TISSUE | 1636821 | 1637510 | 1637249 | 1637249 | Missense_Mutation | C | T | p.R1640C |
| JHH7_LIVER | 1636821 | 1637510 | 1637279 | 1637279 | Missense_Mutation | G | A | p.A1650T |
| SCC25_UPPER_AERODIGESTIVE_TRACT | 1636821 | 1637510 | 1637291 | 1637291 | Missense_Mutation | G | A | p.V1654M |
| MZ7MEL_SKIN | 1636821 | 1637510 | 1637339 | 1637339 | Missense_Mutation | C | T | p.R1670C |
| SNU283_LARGE_INTESTINE | 1636821 | 1637510 | 1637340 | 1637340 | Missense_Mutation | G | A | p.R1670H |
| SNU1040_LARGE_INTESTINE | 1636821 | 1637510 | 1637421 | 1637421 | Missense_Mutation | G | A | p.R1697H |
| CAL62_THYROID | 1636821 | 1637510 | 1637429 | 1637429 | Missense_Mutation | G | A | p.V1700I |
| SKUT1_SOFT_TISSUE | 1636821 | 1637510 | 1637438 | 1637438 | Missense_Mutation | G | A | p.V1703M |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1639333 | 1639512 | 1639457 | 1639457 | Missense_Mutation | C | T | p.T1817I |
| MDAMB415_BREAST | 1636821 | 1637510 | 1637036 | 1637036 | Nonsense_Mutation | C | T | p.Q1569* |
| NCIH2342_LUNG | 1639333 | 1639512 | 1639427 | 1639427 | Nonsense_Mutation | C | G | p.S1807* |
| SKUT1_SOFT_TISSUE | 1639333 | 1639512 | 1639471 | 1639471 | Nonsense_Mutation | C | T | p.R1822* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WDR81 |
| 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_147563 | 17 | 1635959:1636125:1636820:1637510:1638865:1639011 | 1636820:1637510 | ENST00000419248.1,ENST00000464528.1,ENST00000446363.1,ENST00000437219.2,ENST00000309182.5,ENST00000409644.1,ENST00000545662.1 | PRAD | rs8065251 | chr17:1637458 | G/A | 8.90e-04 |
| exon_skip_147563 | 17 | 1635959:1636125:1636820:1637510:1638865:1639011 | 1636820:1637510 | ENST00000419248.1,ENST00000464528.1,ENST00000446363.1,ENST00000437219.2,ENST00000309182.5,ENST00000409644.1,ENST00000545662.1 | PRAD | rs8065251 | chr17:1637458 | G/A | 1.08e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WDR81 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WDR81 |
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RelatedDrugs for WDR81 |
| 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 WDR81 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| WDR81 | C2750234 | Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 | 1 | UNIPROT |
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