|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for TESC |
 Gene summary |
| Gene information | Gene symbol | TESC | Gene ID | 54997 |
| Gene name | tescalcin | |
| Synonyms | CHP3|TSC | |
| Cytomap | 12q24.22 | |
| Type of gene | protein-coding | |
| Description | calcineurin B homologous protein 3calcineurin-like EF hand protein 3 | |
| Modification date | 20180519 | |
| UniProtAcc | Q96BS2 | |
| Context | PubMed: TESC [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 |
| TESC | GO:0030854 | positive regulation of granulocyte differentiation | 20060826 |
| TESC | GO:0032417 | positive regulation of sodium:proton antiporter activity | 18321853 |
| TESC | GO:0050821 | protein stabilization | 18321853 |
| TESC | GO:0051604 | protein maturation | 18321853 |
| TESC | GO:0071300 | cellular response to retinoic acid | 20060826 |
| TESC | GO:0072659 | protein localization to plasma membrane | 18321853 |
Top |
Exon skipping events across known transcript of Ensembl for TESC 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. |
 |
Top |
Gene isoform structures and expression levels for TESC |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for TESC |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_97035 | 12 | 117476761:117477015:117479751:117479799:117484363:117484471 | 117479751:117479799 | ENSG00000088992.13 | ENST00000335209.7,ENST00000541210.1,ENST00000392545.4,ENST00000470612.1 |
| exon_skip_97052 | 12 | 117484373:117484471:117484576:117484643:117486823:117486963 | 117484576:117484643 | ENSG00000088992.13 | ENST00000470612.1 |
| exon_skip_97054 | 12 | 117484373:117484471:117484581:117484643:117486823:117486963 | 117484581:117484643 | ENSG00000088992.13 | ENST00000335209.7,ENST00000541210.1,ENST00000392545.4,ENST00000535198.1 |
| exon_skip_97060 | 12 | 117484581:117484643:117486485:117486615:117486823:117486963 | 117486485:117486615 | ENSG00000088992.13 | ENST00000462502.1 |
| exon_skip_97068 | 12 | 117484581:117484643:117486823:117486963:117494610:117494691 | 117486823:117486963 | ENSG00000088992.13 | ENST00000335209.7,ENST00000392545.4,ENST00000470612.1 |
| exon_skip_97069 | 12 | 117484581:117484643:117486823:117486963:117513075:117513145 | 117486823:117486963 | ENSG00000088992.13 | ENST00000541210.1 |
| exon_skip_97073 | 12 | 117486854:117486963:117494610:117494691:117513075:117513145 | 117494610:117494691 | ENSG00000088992.13 | ENST00000335209.7,ENST00000462502.1,ENST00000482176.1,ENST00000392545.4,ENST00000470612.1 |
| exon_skip_97076 | 12 | 117486854:117486963:117513075:117513145:117537029:117537213 | 117513075:117513145 | ENSG00000088992.13 | ENST00000541210.1 |
| exon_skip_97080 | 12 | 117494610:117494691:117513075:117513145:117537029:117537213 | 117513075:117513145 | ENSG00000088992.13 | ENST00000335209.7,ENST00000462502.1,ENST00000392545.4 |
| exon_skip_97084 | 12 | 117513101:117513145:117521773:117521895:117537029:117537213 | 117521773:117521895 | ENSG00000088992.13 | ENST00000482176.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for TESC |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_97035 | 12 | 117476761:117477015:117479751:117479799:117484363:117484471 | 117479751:117479799 | ENSG00000088992.13 | ENST00000470612.1,ENST00000335209.7,ENST00000392545.4,ENST00000541210.1 |
| exon_skip_97052 | 12 | 117484373:117484471:117484576:117484643:117486823:117486963 | 117484576:117484643 | ENSG00000088992.13 | ENST00000470612.1 |
| exon_skip_97054 | 12 | 117484373:117484471:117484581:117484643:117486823:117486963 | 117484581:117484643 | ENSG00000088992.13 | ENST00000335209.7,ENST00000392545.4,ENST00000541210.1,ENST00000535198.1 |
| exon_skip_97060 | 12 | 117484581:117484643:117486485:117486615:117486823:117486963 | 117486485:117486615 | ENSG00000088992.13 | ENST00000462502.1 |
| exon_skip_97068 | 12 | 117484581:117484643:117486823:117486963:117494610:117494691 | 117486823:117486963 | ENSG00000088992.13 | ENST00000470612.1,ENST00000335209.7,ENST00000392545.4 |
| exon_skip_97069 | 12 | 117484581:117484643:117486823:117486963:117513075:117513145 | 117486823:117486963 | ENSG00000088992.13 | ENST00000541210.1 |
| exon_skip_97073 | 12 | 117486854:117486963:117494610:117494691:117513075:117513145 | 117494610:117494691 | ENSG00000088992.13 | ENST00000470612.1,ENST00000335209.7,ENST00000392545.4,ENST00000462502.1,ENST00000482176.1 |
| exon_skip_97076 | 12 | 117486854:117486963:117513075:117513145:117537029:117537213 | 117513075:117513145 | ENSG00000088992.13 | ENST00000541210.1 |
| exon_skip_97080 | 12 | 117494610:117494691:117513075:117513145:117537029:117537213 | 117513075:117513145 | ENSG00000088992.13 | ENST00000335209.7,ENST00000392545.4,ENST00000462502.1 |
| exon_skip_97084 | 12 | 117513101:117513145:117521773:117521895:117537029:117537213 | 117521773:117521895 | ENSG00000088992.13 | ENST00000482176.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for TESC |
| 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 |
| ENST00000335209 | 117484581 | 117484643 | Frame-shift |
| ENST00000335209 | 117486823 | 117486963 | Frame-shift |
| ENST00000335209 | 117513075 | 117513145 | Frame-shift |
| ENST00000335209 | 117479751 | 117479799 | In-frame |
| ENST00000335209 | 117494610 | 117494691 | 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 |
| ENST00000335209 | 117484581 | 117484643 | Frame-shift |
| ENST00000335209 | 117486823 | 117486963 | Frame-shift |
| ENST00000335209 | 117513075 | 117513145 | Frame-shift |
| ENST00000335209 | 117479751 | 117479799 | In-frame |
| ENST00000335209 | 117494610 | 117494691 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for TESC |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000335209 | 1058 | 214 | 117494610 | 117494691 | 316 | 396 | 43 | 69 |
| ENST00000335209 | 1058 | 214 | 117479751 | 117479799 | 707 | 754 | 173 | 189 |
| 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 |
| ENST00000335209 | 1058 | 214 | 117494610 | 117494691 | 316 | 396 | 43 | 69 |
| ENST00000335209 | 1058 | 214 | 117479751 | 117479799 | 707 | 754 | 173 | 189 |
| 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 |
| Q96BS2 | 43 | 69 | 43 | 69 | Alternative sequence | ID=VSP_045287;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96BS2 | 43 | 69 | 2 | 214 | Chain | ID=PRO_0000073859;Note=Calcineurin B homologous protein 3 |
| Q96BS2 | 173 | 189 | 164 | 214 | Alternative sequence | ID=VSP_035519;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96BS2 | 173 | 189 | 2 | 214 | Chain | ID=PRO_0000073859;Note=Calcineurin B homologous protein 3 |
| 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 |
| Q96BS2 | 43 | 69 | 43 | 69 | Alternative sequence | ID=VSP_045287;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96BS2 | 43 | 69 | 2 | 214 | Chain | ID=PRO_0000073859;Note=Calcineurin B homologous protein 3 |
| Q96BS2 | 173 | 189 | 164 | 214 | Alternative sequence | ID=VSP_035519;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96BS2 | 173 | 189 | 2 | 214 | Chain | ID=PRO_0000073859;Note=Calcineurin B homologous protein 3 |
Top |
SNVs in the skipped exons for TESC |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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 |
| HNSC | TCGA-CV-6441-01 | exon_skip_97035 | 117479752 | 117479799 | 117479755 | 117479755 | Frame_Shift_Del | C | - | p.L188fs |
| HNSC | TCGA-CV-6441-01 | exon_skip_97035 | 117479752 | 117479799 | 117479755 | 117479755 | Frame_Shift_Del | C | - | p.L241fs |
| BLCA | TCGA-2F-A9KO-01 | exon_skip_97080 exon_skip_97076 | 117513076 | 117513145 | 117513134 | 117513134 | Nonsense_Mutation | G | A | p.Q24* |
| - 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 |
| CORL24_LUNG | 117486824 | 117486963 | 117486924 | 117486924 | Missense_Mutation | G | C | p.I83M |
| MCC142_SKIN | 117513076 | 117513145 | 117513115 | 117513115 | Missense_Mutation | C | T | p.R30Q |
| MKN74_STOMACH | 117513076 | 117513145 | 117513139 | 117513139 | Missense_Mutation | G | A | p.S22L |
| MKN28_STOMACH | 117513076 | 117513145 | 117513139 | 117513139 | Missense_Mutation | G | A | p.S22L |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117484582 | 117484643 | 117484587 | 117484587 | Nonsense_Mutation | G | A | p.R136* |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117484577 | 117484643 | 117484587 | 117484587 | Nonsense_Mutation | G | A | p.R136* |
| JHUEM7_ENDOMETRIUM | 117513076 | 117513145 | 117513107 | 117513107 | Nonsense_Mutation | T | A | p.K33* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TESC |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TESC |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TESC |
Top |
RelatedDrugs for TESC |
| 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 |
Top |
RelatedDiseases for TESC |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|