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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 TCTEX1D1 |
 Gene summary |
| Gene information | Gene symbol | TCTEX1D1 | Gene ID | 200132 |
| Gene name | Tctex1 domain containing 1 | |
| Synonyms | - | |
| Cytomap | 1p31.3 | |
| Type of gene | protein-coding | |
| Description | tctex1 domain-containing protein 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8N7M0 | |
| Context | PubMed: TCTEX1D1 [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 TCTEX1D1 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 TCTEX1D1 |
| 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 TCTEX1D1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_7123 | 1 | 67218214:67218267:67220338:67220460:67236069:67236161 | 67220338:67220460 | ENSG00000152760.5 | ENST00000282670.2,ENST00000528352.1 |
| exon_skip_7127 | 1 | 67221362:67221456:67234341:67234443:67236069:67236190 | 67234341:67234443 | ENSG00000152760.5 | ENST00000491611.1 |
| exon_skip_7128 | 1 | 67236069:67236161:67236261:67236328:67241196:67241259 | 67236261:67236328 | ENSG00000152760.5 | ENST00000528352.1 |
| exon_skip_7134 | 1 | 67236069:67236161:67241961:67242086:67242933:67243384 | 67241961:67242086 | ENSG00000152760.5 | ENST00000282670.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TCTEX1D1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_7123 | 1 | 67218214:67218267:67220338:67220460:67236069:67236161 | 67220338:67220460 | ENSG00000152760.5 | ENST00000282670.2,ENST00000528352.1 |
| exon_skip_7127 | 1 | 67221362:67221456:67234341:67234443:67236069:67236190 | 67234341:67234443 | ENSG00000152760.5 | ENST00000491611.1 |
| exon_skip_7128 | 1 | 67236069:67236161:67236261:67236328:67241196:67241259 | 67236261:67236328 | ENSG00000152760.5 | ENST00000528352.1 |
| exon_skip_7134 | 1 | 67236069:67236161:67241961:67242086:67242933:67243384 | 67241961:67242086 | ENSG00000152760.5 | ENST00000282670.2 |
| 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 TCTEX1D1 |
| 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 |
| ENST00000282670 | 67220338 | 67220460 | 5CDS-5UTR |
| ENST00000282670 | 67241961 | 67242086 | 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 |
| ENST00000282670 | 67220338 | 67220460 | 5CDS-5UTR |
| ENST00000282670 | 67241961 | 67242086 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for TCTEX1D1 |
| 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 TCTEX1D1 |
| - 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 |
| LUSC | TCGA-60-2713-01 | exon_skip_7123 | 67220339 | 67220460 | 67220352 | 67220352 | Nonsense_Mutation | C | G | p.S4* |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_7123 | 67220339 | 67220460 | 67220432 | 67220432 | Nonsense_Mutation | C | T | p.R31* |
| COAD | TCGA-AM-5820-01 | exon_skip_7134 | 67241962 | 67242086 | 67242087 | 67242087 | Splice_Site | G | A | . |
| - 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 |
| NCIH2286_LUNG | 67220339 | 67220460 | 67220352 | 67220352 | Missense_Mutation | C | T | p.S4L |
| COLO668_LUNG | 67220339 | 67220460 | 67220451 | 67220451 | Missense_Mutation | G | T | p.R37L |
| NCIH510_LUNG | 67241962 | 67242086 | 67242016 | 67242016 | Missense_Mutation | T | C | p.V89A |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67241962 | 67242086 | 67242018 | 67242018 | Missense_Mutation | A | G | p.T90A |
| MDAMB361_BREAST | 67241962 | 67242086 | 67242025 | 67242025 | Missense_Mutation | A | C | p.Y92S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TCTEX1D1 |
| 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 TCTEX1D1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TCTEX1D1 |
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RelatedDrugs for TCTEX1D1 |
| 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 TCTEX1D1 |
| 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)
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