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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 GTDC1 |
 Gene summary |
| Gene information | Gene symbol | GTDC1 | Gene ID | 79712 |
| Gene name | glycosyltransferase like domain containing 1 | |
| Synonyms | Hmat-Xa|mat-Xa | |
| Cytomap | 2q22.3 | |
| Type of gene | protein-coding | |
| Description | glycosyltransferase-like domain-containing protein 1glycosyltransferase-like 1mannosyltransferase candidatemannosyltransferase-like protein Xa | |
| Modification date | 20180519 | |
| UniProtAcc | Q4AE62 | |
| Context | PubMed: GTDC1 [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 GTDC1 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 GTDC1 |
| 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 GTDC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_343797 | 2 | 144709548:144709640:144710339:144710410:144714761:144714906 | 144710339:144710410 | ENSG00000121964.10 | ENST00000344850.4,ENST00000463875.2,ENST00000542155.1,ENST00000409214.1,ENST00000392869.2,ENST00000415569.1,ENST00000409298.1 |
| exon_skip_343798 | 2 | 144709548:144709640:144710339:144710410:144728219:144728329 | 144710339:144710410 | ENSG00000121964.10 | ENST00000392871.2 |
| exon_skip_343799 | 2 | 144709548:144709640:144710339:144710410:144764748:144765102 | 144710339:144710410 | ENSG00000121964.10 | ENST00000241391.5,ENST00000392867.3 |
| exon_skip_343808 | 2 | 144710339:144710410:144714761:144714906:144728219:144728329 | 144714761:144714906 | ENSG00000121964.10 | ENST00000344850.4,ENST00000463875.2,ENST00000542155.1,ENST00000409214.1,ENST00000392869.2,ENST00000415569.1,ENST00000409298.1 |
| exon_skip_343811 | 2 | 144710339:144710410:144728219:144728329:144764748:144765102 | 144728219:144728329 | ENSG00000121964.10 | ENST00000392871.2 |
| exon_skip_343814 | 2 | 144710339:144710410:144764748:144765102:144899448:144899622 | 144764748:144765102 | ENSG00000121964.10 | ENST00000241391.5,ENST00000392867.3 |
| exon_skip_343816 | 2 | 144714761:144714906:144728219:144728329:144764748:144765102 | 144728219:144728329 | ENSG00000121964.10 | ENST00000344850.4,ENST00000463875.2,ENST00000542155.1,ENST00000409214.1,ENST00000392869.2,ENST00000415569.1 |
| exon_skip_343817 | 2 | 144714761:144714906:144728219:144728329:144899448:144899622 | 144728219:144728329 | ENSG00000121964.10 | ENST00000409298.1 |
| exon_skip_343820 | 2 | 144728219:144728329:144764748:144765102:144899448:144899622 | 144764748:144765102 | ENSG00000121964.10 | ENST00000344850.4,ENST00000463875.2,ENST00000392871.2,ENST00000542155.1,ENST00000409214.1,ENST00000392869.2,ENST00000415569.1 |
| exon_skip_343831 | 2 | 144899448:144899622:144903138:144903306:144966169:144966371 | 144903138:144903306 | ENSG00000121964.10 | ENST00000344850.4,ENST00000392871.2,ENST00000491448.1,ENST00000542155.1,ENST00000409214.1,ENST00000241391.5,ENST00000392869.2,ENST00000437114.1,ENST00000392867.3,ENST00000409298.1 |
| exon_skip_343833 | 2 | 144903186:144903306:144934701:144934807:144936401:144936503 | 144934701:144934807 | ENSG00000121964.10 | ENST00000415569.1 |
| exon_skip_343839 | 2 | 144934701:144934807:144936401:144936527:144966169:144966371 | 144936401:144936527 | ENSG00000121964.10 | ENST00000415569.1 |
| exon_skip_343845 | 2 | 144969081:144969146:144987807:144987889:144993242:144993304 | 144987807:144987889 | ENSG00000121964.10 | ENST00000437114.1 |
| exon_skip_343846 | 2 | 144969081:144969146:144993242:144993304:145090005:145090083 | 144993242:144993304 | ENSG00000121964.10 | ENST00000429978.1 |
| exon_skip_343850 | 2 | 144993242:144993304:145075045:145075155:145077285:145077435 | 145075045:145075155 | ENSG00000121964.10 | ENST00000467352.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GTDC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_343797 | 2 | 144709548:144709640:144710339:144710410:144714761:144714906 | 144710339:144710410 | ENSG00000121964.10 | ENST00000392869.2,ENST00000409214.1,ENST00000409298.1,ENST00000542155.1,ENST00000344850.4,ENST00000415569.1,ENST00000463875.2 |
| exon_skip_343798 | 2 | 144709548:144709640:144710339:144710410:144728219:144728329 | 144710339:144710410 | ENSG00000121964.10 | ENST00000392871.2 |
| exon_skip_343799 | 2 | 144709548:144709640:144710339:144710410:144764748:144765102 | 144710339:144710410 | ENSG00000121964.10 | ENST00000392867.3,ENST00000241391.5 |
| exon_skip_343808 | 2 | 144710339:144710410:144714761:144714906:144728219:144728329 | 144714761:144714906 | ENSG00000121964.10 | ENST00000392869.2,ENST00000409214.1,ENST00000409298.1,ENST00000542155.1,ENST00000344850.4,ENST00000415569.1,ENST00000463875.2 |
| exon_skip_343811 | 2 | 144710339:144710410:144728219:144728329:144764748:144765102 | 144728219:144728329 | ENSG00000121964.10 | ENST00000392871.2 |
| exon_skip_343814 | 2 | 144710339:144710410:144764748:144765102:144899448:144899622 | 144764748:144765102 | ENSG00000121964.10 | ENST00000392867.3,ENST00000241391.5 |
| exon_skip_343816 | 2 | 144714761:144714906:144728219:144728329:144764748:144765102 | 144728219:144728329 | ENSG00000121964.10 | ENST00000392869.2,ENST00000409214.1,ENST00000542155.1,ENST00000344850.4,ENST00000415569.1,ENST00000463875.2 |
| exon_skip_343817 | 2 | 144714761:144714906:144728219:144728329:144899448:144899622 | 144728219:144728329 | ENSG00000121964.10 | ENST00000409298.1 |
| exon_skip_343820 | 2 | 144728219:144728329:144764748:144765102:144899448:144899622 | 144764748:144765102 | ENSG00000121964.10 | ENST00000392869.2,ENST00000409214.1,ENST00000542155.1,ENST00000344850.4,ENST00000392871.2,ENST00000415569.1,ENST00000463875.2 |
| exon_skip_343829 | 2 | 144885490:144885611:144885812:144885889:144899448:144899622 | 144885812:144885889 | ENSG00000121964.10 | ENST00000482601.1 |
| exon_skip_343831 | 2 | 144899448:144899622:144903138:144903306:144966169:144966371 | 144903138:144903306 | ENSG00000121964.10 | ENST00000392869.2,ENST00000409214.1,ENST00000392867.3,ENST00000409298.1,ENST00000542155.1,ENST00000241391.5,ENST00000344850.4,ENST00000392871.2,ENST00000491448.1,ENST00000437114.1 |
| exon_skip_343833 | 2 | 144903186:144903306:144934701:144934807:144936401:144936503 | 144934701:144934807 | ENSG00000121964.10 | ENST00000415569.1 |
| exon_skip_343839 | 2 | 144934701:144934807:144936401:144936527:144966169:144966371 | 144936401:144936527 | ENSG00000121964.10 | ENST00000415569.1 |
| exon_skip_343845 | 2 | 144969081:144969146:144987807:144987889:144993242:144993304 | 144987807:144987889 | ENSG00000121964.10 | ENST00000437114.1 |
| exon_skip_343846 | 2 | 144969081:144969146:144993242:144993304:145090005:145090083 | 144993242:144993304 | ENSG00000121964.10 | ENST00000429978.1 |
| exon_skip_343850 | 2 | 144993242:144993304:145075045:145075155:145077285:145077435 | 145075045:145075155 | ENSG00000121964.10 | ENST00000467352.1 |
| 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 GTDC1 |
| 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 |
| ENST00000344850 | 144710339 | 144710410 | Frame-shift |
| ENST00000392869 | 144710339 | 144710410 | Frame-shift |
| ENST00000409214 | 144710339 | 144710410 | Frame-shift |
| ENST00000542155 | 144710339 | 144710410 | Frame-shift |
| ENST00000344850 | 144714761 | 144714906 | Frame-shift |
| ENST00000392869 | 144714761 | 144714906 | Frame-shift |
| ENST00000409214 | 144714761 | 144714906 | Frame-shift |
| ENST00000542155 | 144714761 | 144714906 | Frame-shift |
| ENST00000344850 | 144728219 | 144728329 | Frame-shift |
| ENST00000392869 | 144728219 | 144728329 | Frame-shift |
| ENST00000409214 | 144728219 | 144728329 | Frame-shift |
| ENST00000542155 | 144728219 | 144728329 | Frame-shift |
| ENST00000344850 | 144764748 | 144765102 | In-frame |
| ENST00000392869 | 144764748 | 144765102 | In-frame |
| ENST00000409214 | 144764748 | 144765102 | In-frame |
| ENST00000542155 | 144764748 | 144765102 | In-frame |
| ENST00000344850 | 144903138 | 144903306 | In-frame |
| ENST00000392869 | 144903138 | 144903306 | In-frame |
| ENST00000409214 | 144903138 | 144903306 | In-frame |
| ENST00000542155 | 144903138 | 144903306 | 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 |
| ENST00000344850 | 144710339 | 144710410 | Frame-shift |
| ENST00000392869 | 144710339 | 144710410 | Frame-shift |
| ENST00000409214 | 144710339 | 144710410 | Frame-shift |
| ENST00000542155 | 144710339 | 144710410 | Frame-shift |
| ENST00000344850 | 144714761 | 144714906 | Frame-shift |
| ENST00000392869 | 144714761 | 144714906 | Frame-shift |
| ENST00000409214 | 144714761 | 144714906 | Frame-shift |
| ENST00000542155 | 144714761 | 144714906 | Frame-shift |
| ENST00000344850 | 144728219 | 144728329 | Frame-shift |
| ENST00000392869 | 144728219 | 144728329 | Frame-shift |
| ENST00000409214 | 144728219 | 144728329 | Frame-shift |
| ENST00000542155 | 144728219 | 144728329 | Frame-shift |
| ENST00000344850 | 144764748 | 144765102 | In-frame |
| ENST00000392869 | 144764748 | 144765102 | In-frame |
| ENST00000409214 | 144764748 | 144765102 | In-frame |
| ENST00000542155 | 144764748 | 144765102 | In-frame |
| ENST00000344850 | 144903138 | 144903306 | In-frame |
| ENST00000392869 | 144903138 | 144903306 | In-frame |
| ENST00000409214 | 144903138 | 144903306 | In-frame |
| ENST00000542155 | 144903138 | 144903306 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GTDC1 |
| 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 |
| ENST00000344850 | 2624 | 458 | 144903138 | 144903306 | 374 | 541 | 60 | 115 |
| ENST00000392869 | 10531 | 458 | 144903138 | 144903306 | 333 | 500 | 60 | 115 |
| ENST00000409214 | 2971 | 458 | 144903138 | 144903306 | 459 | 626 | 60 | 115 |
| ENST00000542155 | 2676 | 458 | 144903138 | 144903306 | 426 | 593 | 60 | 115 |
| ENST00000344850 | 2624 | 458 | 144764748 | 144765102 | 716 | 1069 | 174 | 291 |
| ENST00000392869 | 10531 | 458 | 144764748 | 144765102 | 675 | 1028 | 174 | 291 |
| ENST00000409214 | 2971 | 458 | 144764748 | 144765102 | 801 | 1154 | 174 | 291 |
| ENST00000542155 | 2676 | 458 | 144764748 | 144765102 | 768 | 1121 | 174 | 291 |
| 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 |
| ENST00000344850 | 2624 | 458 | 144903138 | 144903306 | 374 | 541 | 60 | 115 |
| ENST00000392869 | 10531 | 458 | 144903138 | 144903306 | 333 | 500 | 60 | 115 |
| ENST00000409214 | 2971 | 458 | 144903138 | 144903306 | 459 | 626 | 60 | 115 |
| ENST00000542155 | 2676 | 458 | 144903138 | 144903306 | 426 | 593 | 60 | 115 |
| ENST00000344850 | 2624 | 458 | 144764748 | 144765102 | 716 | 1069 | 174 | 291 |
| ENST00000392869 | 10531 | 458 | 144764748 | 144765102 | 675 | 1028 | 174 | 291 |
| ENST00000409214 | 2971 | 458 | 144764748 | 144765102 | 801 | 1154 | 174 | 291 |
| ENST00000542155 | 2676 | 458 | 144764748 | 144765102 | 768 | 1121 | 174 | 291 |
| 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 GTDC1 |
| - 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 |
| COAD | TCGA-D5-6930-01 | exon_skip_343816 exon_skip_343817 exon_skip_343811 | 144728220 | 144728329 | 144728299 | 144728299 | Frame_Shift_Del | A | - | p.K303fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_343816 exon_skip_343817 exon_skip_343811 | 144728220 | 144728329 | 144728299 | 144728299 | Frame_Shift_Del | A | - | p.F302fs |
| LUAD | TCGA-MN-A4N1-01 | exon_skip_343831 | 144903139 | 144903306 | 144903179 | 144903179 | Nonsense_Mutation | C | A | p.E103* |
| LUSC | TCGA-85-6561-01 | exon_skip_343831 | 144903139 | 144903306 | 144903215 | 144903215 | Nonsense_Mutation | C | A | p.E91* |
| PAAD | TCGA-IB-A7LX-01 | exon_skip_343831 | 144903139 | 144903306 | 144903272 | 144903272 | Nonsense_Mutation | C | A | p.E72X |
| - 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 |
| BV173_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 144714762 | 144714906 | 144714828 | 144714828 | Frame_Shift_Del | A | - | p.F355fs |
| HEC1_ENDOMETRIUM | 144714762 | 144714906 | 144714898 | 144714898 | Frame_Shift_Del | A | - | p.S332fs |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 144728220 | 144728329 | 144728299 | 144728299 | Frame_Shift_Del | A | - | p.F302fs |
| SNU349_KIDNEY | 144714762 | 144714906 | 144714897 | 144714898 | Frame_Shift_Ins | - | A | p.S332fs |
| SNU407_LARGE_INTESTINE | 144714762 | 144714906 | 144714897 | 144714898 | Frame_Shift_Ins | - | A | p.S332fs |
| HSC4_UPPER_AERODIGESTIVE_TRACT | 144728220 | 144728329 | 144728298 | 144728299 | Frame_Shift_Ins | - | A | p.K303fs |
| SW1353_BONE | 144710340 | 144710410 | 144710363 | 144710363 | Missense_Mutation | A | C | p.L393W |
| HS739T_FIBROBLAST | 144710340 | 144710410 | 144710396 | 144710396 | Missense_Mutation | T | C | p.Y382C |
| HEC108_ENDOMETRIUM | 144714762 | 144714906 | 144714807 | 144714807 | Missense_Mutation | T | C | p.D362G |
| GP2D_LARGE_INTESTINE | 144728220 | 144728329 | 144728243 | 144728243 | Missense_Mutation | C | A | p.G321V |
| GP5D_LARGE_INTESTINE | 144728220 | 144728329 | 144728243 | 144728243 | Missense_Mutation | C | A | p.G321V |
| SCH_STOMACH | 144728220 | 144728329 | 144728265 | 144728265 | Missense_Mutation | T | G | p.N314H |
| SNU886_LIVER | 144764749 | 144765102 | 144765035 | 144765035 | Missense_Mutation | C | A | p.V197F |
| NCIH810_LUNG | 144764749 | 144765102 | 144765058 | 144765058 | Missense_Mutation | C | A | p.G189V |
| TOV21G_OVARY | 144903139 | 144903306 | 144903158 | 144903158 | Missense_Mutation | A | G | p.Y110H |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 144903139 | 144903306 | 144903256 | 144903256 | Missense_Mutation | C | T | p.R77Q |
| TE5_OESOPHAGUS | 144903139 | 144903306 | 144903257 | 144903257 | Missense_Mutation | G | A | p.R77W |
| DSH1_URINARY_TRACT | 144903139 | 144903306 | 144903257 | 144903257 | Missense_Mutation | G | A | p.R77W |
| TE15_OESOPHAGUS | 144903139 | 144903306 | 144903257 | 144903257 | Missense_Mutation | G | A | p.R77W |
| HCC15_LUNG | 144903139 | 144903306 | 144903287 | 144903287 | Missense_Mutation | C | A | p.V67L |
| VMRCLCD_LUNG | 144903139 | 144903306 | 144903272 | 144903272 | Nonsense_Mutation | C | A | p.E72* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GTDC1 |
| 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 GTDC1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GTDC1 |
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RelatedDrugs for GTDC1 |
| 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 GTDC1 |
| 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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