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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 CNST |
 Gene summary |
| Gene information | Gene symbol | CNST | Gene ID | 163882 |
| Gene name | consortin, connexin sorting protein | |
| Synonyms | C1orf71|PPP1R64 | |
| Cytomap | 1q44 | |
| Type of gene | protein-coding | |
| Description | consortinprotein phosphatase 1, regulatory subunit 64 | |
| Modification date | 20180519 | |
| UniProtAcc | Q6PJW8 | |
| Context | PubMed: CNST [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 |
| CNST | GO:0010923 | negative regulation of phosphatase activity | 19389623 |
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Exon skipping events across known transcript of Ensembl for CNST 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 CNST |
| 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 CNST |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_19941 | 1 | 246729815:246729965:246754813:246755243:246784730:246784886 | 246754813:246755243 | ENSG00000162852.9 | ENST00000366513.4 |
| exon_skip_19945 | 1 | 246754904:246755243:246784730:246784936:246795195:246795226 | 246784730:246784936 | ENSG00000162852.9 | ENST00000366512.3,ENST00000483271.1,ENST00000366513.4 |
| exon_skip_19948 | 1 | 246797774:246797889:246805050:246805072:246805242:246805339 | 246805050:246805072 | ENSG00000162852.9 | ENST00000366512.3,ENST00000483271.1,ENST00000366513.4 |
| exon_skip_19951 | 1 | 246805050:246805072:246805242:246805339:246810440:246811339 | 246805242:246805339 | ENSG00000162852.9 | ENST00000366512.3,ENST00000483271.1,ENST00000366513.4 |
| exon_skip_19957 | 1 | 246810440:246811339:246823500:246823636:246829001:246831886 | 246823500:246823636 | ENSG00000162852.9 | ENST00000366513.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CNST |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_19941 | 1 | 246729815:246729965:246754813:246755243:246784730:246784886 | 246754813:246755243 | ENSG00000162852.9 | ENST00000366513.4 |
| exon_skip_19945 | 1 | 246754904:246755243:246784730:246784936:246795195:246795226 | 246784730:246784936 | ENSG00000162852.9 | ENST00000483271.1,ENST00000366513.4,ENST00000366512.3 |
| exon_skip_19948 | 1 | 246797774:246797889:246805050:246805072:246805242:246805339 | 246805050:246805072 | ENSG00000162852.9 | ENST00000483271.1,ENST00000366513.4,ENST00000366512.3 |
| exon_skip_19951 | 1 | 246805050:246805072:246805242:246805339:246810440:246811339 | 246805242:246805339 | ENSG00000162852.9 | ENST00000483271.1,ENST00000366513.4,ENST00000366512.3 |
| exon_skip_19957 | 1 | 246810440:246811339:246823500:246823636:246829001:246831886 | 246823500:246823636 | ENSG00000162852.9 | ENST00000366513.4 |
| 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 CNST |
| 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 |
| ENST00000366513 | 246754813 | 246755243 | 5CDS-5UTR |
| ENST00000366513 | 246784730 | 246784936 | Frame-shift |
| ENST00000366513 | 246805050 | 246805072 | Frame-shift |
| ENST00000366513 | 246805242 | 246805339 | Frame-shift |
| ENST00000366513 | 246823500 | 246823636 | 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 |
| ENST00000366513 | 246754813 | 246755243 | 5CDS-5UTR |
| ENST00000366513 | 246784730 | 246784936 | Frame-shift |
| ENST00000366513 | 246805050 | 246805072 | Frame-shift |
| ENST00000366513 | 246805242 | 246805339 | Frame-shift |
| ENST00000366513 | 246823500 | 246823636 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for CNST |
| 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 CNST |
| - 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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_19941 | 246754814 | 246755243 | 246755045 | 246755045 | Frame_Shift_Del | C | - | p.P61fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_19941 | 246754814 | 246755243 | 246755045 | 246755045 | Frame_Shift_Del | C | - | p.P61fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_19941 | 246754814 | 246755243 | 246755180 | 246755180 | Frame_Shift_Del | A | - | p.K107fs |
| STAD | TCGA-BR-4201-01 | exon_skip_19941 | 246754814 | 246755243 | 246755180 | 246755180 | Frame_Shift_Del | A | - | p.D105fs |
| STAD | TCGA-R5-A7ZI-01 | exon_skip_19941 | 246754814 | 246755243 | 246755180 | 246755180 | Frame_Shift_Del | A | - | p.K107fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_19941 | 246754814 | 246755243 | 246755194 | 246755194 | Frame_Shift_Del | A | - | p.G110fs |
| HNSC | TCGA-CR-7370-01 | exon_skip_19945 | 246784731 | 246784936 | 246784843 | 246784844 | Frame_Shift_Ins | - | GC | p.DA164fs |
| HNSC | TCGA-CR-7370-01 | exon_skip_19945 | 246784731 | 246784936 | 246784843 | 246784844 | Frame_Shift_Ins | - | GC | p.E164fs |
| UCEC | TCGA-B5-A0JR-01 | exon_skip_19941 | 246754814 | 246755243 | 246755243 | 246755243 | Nonsense_Mutation | G | T | p.G127_splice |
| UCEC | TCGA-AP-A051-01 | exon_skip_19957 | 246823501 | 246823636 | 246823594 | 246823594 | Nonsense_Mutation | C | T | p.R644* |
| - 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 |
| GSS_STOMACH | 246754814 | 246755243 | 246754997 | 246754997 | Frame_Shift_Del | G | - | p.G45fs |
| BT549_BREAST | 246754814 | 246755243 | 246755179 | 246755180 | Frame_Shift_Ins | - | A | p.K106fs |
| SET2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 246754814 | 246755243 | 246755179 | 246755180 | Frame_Shift_Ins | - | A | p.K106fs |
| TM31_CENTRAL_NERVOUS_SYSTEM | 246754814 | 246755243 | 246755179 | 246755180 | Frame_Shift_Ins | - | A | p.K106fs |
| LP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 246784731 | 246784936 | 246784733 | 246784734 | Frame_Shift_Ins | - | T | p.L128fs |
| NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 246784731 | 246784936 | 246784733 | 246784734 | Frame_Shift_Ins | - | T | p.L128fs |
| HCC1569_BREAST | 246754814 | 246755243 | 246754886 | 246754886 | Missense_Mutation | A | G | p.T8A |
| DBTRG05MG_CENTRAL_NERVOUS_SYSTEM | 246754814 | 246755243 | 246754995 | 246754995 | Missense_Mutation | A | T | p.D44V |
| OAW42_OVARY | 246754814 | 246755243 | 246755195 | 246755195 | Missense_Mutation | A | G | p.K111E |
| C80_LARGE_INTESTINE | 246754814 | 246755243 | 246755212 | 246755212 | Missense_Mutation | C | A | p.S116R |
| CME1_SOFT_TISSUE | 246754814 | 246755243 | 246755212 | 246755212 | Missense_Mutation | C | A | p.S116R |
| SKPNDW_BONE | 246754814 | 246755243 | 246755212 | 246755212 | Missense_Mutation | C | A | p.S116R |
| HEC251_ENDOMETRIUM | 246784731 | 246784936 | 246784802 | 246784802 | Missense_Mutation | G | T | p.D151Y |
| CAL148_BREAST | 246784731 | 246784936 | 246784802 | 246784802 | Missense_Mutation | G | C | p.D151H |
| MM386_SKIN | 246784731 | 246784936 | 246784875 | 246784875 | Missense_Mutation | C | T | p.S175L |
| NCIH2172_LUNG | 246823501 | 246823636 | 246823521 | 246823521 | Missense_Mutation | G | T | p.L619F |
| RL952_ENDOMETRIUM | 246823501 | 246823636 | 246823528 | 246823528 | Missense_Mutation | A | G | p.I622V |
| HEC251_ENDOMETRIUM | 246784731 | 246784936 | 246784766 | 246784766 | Nonsense_Mutation | G | T | p.E139* |
| CAL148_BREAST | 246784731 | 246784936 | 246784841 | 246784841 | Nonsense_Mutation | G | T | p.E164* |
| NCIH1876_LUNG | 246784731 | 246784936 | 246784875 | 246784875 | Nonsense_Mutation | C | G | p.S175* |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 246754814 | 246755243 | 246754867 | 246754867 | Start_Codon_SNP | G | A | p.M1I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CNST |
| 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 CNST |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CNST |
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RelatedDrugs for CNST |
| 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 CNST |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CNST | C0040128 | Thyroid Diseases | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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