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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 TTC37 |
 Gene summary |
| Gene information | Gene symbol | TTC37 | Gene ID | 9652 |
| Gene name | tetratricopeptide repeat domain 37 | |
| Synonyms | KIAA0372|Ski3|THES | |
| Cytomap | 5q15 | |
| Type of gene | protein-coding | |
| Description | tetratricopeptide repeat protein 37SKI3 homologTPR repeat protein 37thespintricho-hepatic-enteric syndrome protein | |
| Modification date | 20180519 | |
| UniProtAcc | Q6PGP7 | |
| Context | PubMed: TTC37 [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 TTC37 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 TTC37 |
| 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 TTC37 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_443229 | 5 | 94818297:94818335:94820427:94820549:94826611:94826740 | 94820427:94820549 | ENSG00000198677.6 | ENST00000502768.1,ENST00000358746.2 |
| exon_skip_443233 | 5 | 94833119:94833192:94834073:94834295:94838583:94838707 | 94834073:94834295 | ENSG00000198677.6 | ENST00000358746.2 |
| exon_skip_443235 | 5 | 94838606:94838707:94839517:94839642:94842637:94842696 | 94839517:94839642 | ENSG00000198677.6 | ENST00000358746.2,ENST00000508181.1 |
| exon_skip_443237 | 5 | 94845297:94845391:94848180:94848322:94849274:94849349 | 94848180:94848322 | ENSG00000198677.6 | ENST00000515176.1,ENST00000507805.1,ENST00000358746.2,ENST00000508181.1 |
| exon_skip_443239 | 5 | 94850558:94850627:94852056:94852113:94852228:94852290 | 94852056:94852113 | ENSG00000198677.6 | ENST00000507805.1,ENST00000506007.1,ENST00000358746.2,ENST00000508181.1 |
| exon_skip_443241 | 5 | 94852228:94852290:94852375:94852454:94852619:94852764 | 94852375:94852454 | ENSG00000198677.6 | ENST00000358746.2 |
| exon_skip_443243 | 5 | 94852849:94853026:94856419:94856522:94857757:94857790 | 94856419:94856522 | ENSG00000198677.6 | ENST00000507805.1,ENST00000358746.2 |
| exon_skip_443244 | 5 | 94861290:94861377:94863716:94863856:94864704:94864806 | 94863716:94863856 | ENSG00000198677.6 | ENST00000514952.1,ENST00000358746.2 |
| exon_skip_443246 | 5 | 94865792:94865933:94872520:94872629:94872746:94872811 | 94872520:94872629 | ENSG00000198677.6 | ENST00000503279.1,ENST00000514952.1,ENST00000358746.2 |
| exon_skip_443250 | 5 | 94877558:94877610:94878887:94879031:94882764:94882855 | 94878887:94879031 | ENSG00000198677.6 | ENST00000513823.1,ENST00000358746.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TTC37 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_443229 | 5 | 94818297:94818335:94820427:94820549:94826611:94826740 | 94820427:94820549 | ENSG00000198677.6 | ENST00000358746.2,ENST00000502768.1 |
| exon_skip_443233 | 5 | 94833119:94833192:94834073:94834295:94838583:94838707 | 94834073:94834295 | ENSG00000198677.6 | ENST00000358746.2 |
| exon_skip_443235 | 5 | 94838606:94838707:94839517:94839642:94842637:94842696 | 94839517:94839642 | ENSG00000198677.6 | ENST00000358746.2,ENST00000508181.1 |
| exon_skip_443237 | 5 | 94845297:94845391:94848180:94848322:94849274:94849349 | 94848180:94848322 | ENSG00000198677.6 | ENST00000358746.2,ENST00000508181.1,ENST00000515176.1,ENST00000507805.1 |
| exon_skip_443239 | 5 | 94850558:94850627:94852056:94852113:94852228:94852290 | 94852056:94852113 | ENSG00000198677.6 | ENST00000358746.2,ENST00000508181.1,ENST00000507805.1,ENST00000506007.1 |
| exon_skip_443241 | 5 | 94852228:94852290:94852375:94852454:94852619:94852764 | 94852375:94852454 | ENSG00000198677.6 | ENST00000358746.2 |
| exon_skip_443243 | 5 | 94852849:94853026:94856419:94856522:94857757:94857790 | 94856419:94856522 | ENSG00000198677.6 | ENST00000358746.2,ENST00000507805.1 |
| exon_skip_443244 | 5 | 94861290:94861377:94863716:94863856:94864704:94864806 | 94863716:94863856 | ENSG00000198677.6 | ENST00000358746.2,ENST00000514952.1 |
| exon_skip_443246 | 5 | 94865792:94865933:94872520:94872629:94872746:94872811 | 94872520:94872629 | ENSG00000198677.6 | ENST00000358746.2,ENST00000514952.1,ENST00000503279.1 |
| exon_skip_443250 | 5 | 94877558:94877610:94878887:94879031:94882764:94882855 | 94878887:94879031 | ENSG00000198677.6 | ENST00000358746.2,ENST00000513823.1 |
| 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 TTC37 |
| 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 |
| ENST00000358746 | 94820427 | 94820549 | Frame-shift |
| ENST00000358746 | 94839517 | 94839642 | Frame-shift |
| ENST00000358746 | 94848180 | 94848322 | Frame-shift |
| ENST00000358746 | 94852375 | 94852454 | Frame-shift |
| ENST00000358746 | 94856419 | 94856522 | Frame-shift |
| ENST00000358746 | 94863716 | 94863856 | Frame-shift |
| ENST00000358746 | 94872520 | 94872629 | Frame-shift |
| ENST00000358746 | 94834073 | 94834295 | In-frame |
| ENST00000358746 | 94852056 | 94852113 | In-frame |
| ENST00000358746 | 94878887 | 94879031 | 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 |
| ENST00000358746 | 94820427 | 94820549 | Frame-shift |
| ENST00000358746 | 94839517 | 94839642 | Frame-shift |
| ENST00000358746 | 94848180 | 94848322 | Frame-shift |
| ENST00000358746 | 94852375 | 94852454 | Frame-shift |
| ENST00000358746 | 94856419 | 94856522 | Frame-shift |
| ENST00000358746 | 94863716 | 94863856 | Frame-shift |
| ENST00000358746 | 94872520 | 94872629 | Frame-shift |
| ENST00000358746 | 94834073 | 94834295 | In-frame |
| ENST00000358746 | 94852056 | 94852113 | In-frame |
| ENST00000358746 | 94878887 | 94879031 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TTC37 |
| 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 |
| ENST00000358746 | 5723 | 1564 | 94878887 | 94879031 | 390 | 533 | 30 | 78 |
| ENST00000358746 | 5723 | 1564 | 94852056 | 94852113 | 2877 | 2933 | 859 | 878 |
| ENST00000358746 | 5723 | 1564 | 94834073 | 94834295 | 3641 | 3862 | 1114 | 1187 |
| 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 |
| ENST00000358746 | 5723 | 1564 | 94878887 | 94879031 | 390 | 533 | 30 | 78 |
| ENST00000358746 | 5723 | 1564 | 94852056 | 94852113 | 2877 | 2933 | 859 | 878 |
| ENST00000358746 | 5723 | 1564 | 94834073 | 94834295 | 3641 | 3862 | 1114 | 1187 |
| 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 |
| Q6PGP7 | 30 | 78 | 2 | 1564 | Chain | ID=PRO_0000251722;Note=Tetratricopeptide repeat protein 37 |
| Q6PGP7 | 30 | 78 | 6 | 39 | Repeat | Note=TPR 1 |
| Q6PGP7 | 30 | 78 | 40 | 73 | Repeat | Note=TPR 2 |
| Q6PGP7 | 859 | 878 | 2 | 1564 | Chain | ID=PRO_0000251722;Note=Tetratricopeptide repeat protein 37 |
| Q6PGP7 | 859 | 878 | 860 | 878 | Natural variant | ID=VAR_065297;Note=Found in a THES1 patient. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120949;Dbxref=PMID:21120949 |
| Q6PGP7 | 859 | 878 | 826 | 860 | Repeat | Note=TPR 14 |
| Q6PGP7 | 859 | 878 | 861 | 894 | Repeat | Note=TPR 15 |
| Q6PGP7 | 1114 | 1187 | 2 | 1564 | Chain | ID=PRO_0000251722;Note=Tetratricopeptide repeat protein 37 |
| 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 |
| Q6PGP7 | 30 | 78 | 2 | 1564 | Chain | ID=PRO_0000251722;Note=Tetratricopeptide repeat protein 37 |
| Q6PGP7 | 30 | 78 | 6 | 39 | Repeat | Note=TPR 1 |
| Q6PGP7 | 30 | 78 | 40 | 73 | Repeat | Note=TPR 2 |
| Q6PGP7 | 859 | 878 | 2 | 1564 | Chain | ID=PRO_0000251722;Note=Tetratricopeptide repeat protein 37 |
| Q6PGP7 | 859 | 878 | 860 | 878 | Natural variant | ID=VAR_065297;Note=Found in a THES1 patient. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120949;Dbxref=PMID:21120949 |
| Q6PGP7 | 859 | 878 | 826 | 860 | Repeat | Note=TPR 14 |
| Q6PGP7 | 859 | 878 | 861 | 894 | Repeat | Note=TPR 15 |
| Q6PGP7 | 1114 | 1187 | 2 | 1564 | Chain | ID=PRO_0000251722;Note=Tetratricopeptide repeat protein 37 |
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SNVs in the skipped exons for TTC37 |
| - 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. |
TTC37_BRCA_exon_skip_443239_psi_boxplot.png |
| - 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 |
| SKCM | TCGA-BF-AAP4-01 | exon_skip_443229 | 94820428 | 94820549 | 94820436 | 94820437 | Frame_Shift_Del | AG | - | p.LC1348fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_443235 | 94839518 | 94839642 | 94839604 | 94839604 | Frame_Shift_Del | T | - | p.K1044fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_443239 | 94852057 | 94852113 | 94852064 | 94852064 | Frame_Shift_Del | T | - | p.N876fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_443243 | 94856420 | 94856522 | 94856440 | 94856440 | Frame_Shift_Del | T | - | p.K698fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_443243 | 94856420 | 94856522 | 94856440 | 94856440 | Frame_Shift_Del | T | - | p.A699fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_443243 | 94856420 | 94856522 | 94856440 | 94856440 | Frame_Shift_Del | T | - | p.K698fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_443244 | 94863717 | 94863856 | 94863772 | 94863772 | Frame_Shift_Del | A | - | p.L360fs |
| COAD | TCGA-AA-3663-01 | exon_skip_443250 | 94878888 | 94879031 | 94878927 | 94878927 | Frame_Shift_Del | T | - | p.A66fs |
| STAD | TCGA-BR-6452-01 | exon_skip_443250 | 94878888 | 94879031 | 94878927 | 94878927 | Frame_Shift_Del | T | - | p.A66fs |
| STAD | TCGA-FP-A4BE-01 | exon_skip_443250 | 94878888 | 94879031 | 94878927 | 94878927 | Frame_Shift_Del | T | - | p.A66fs |
| HNSC | TCGA-H7-8501-01 | exon_skip_443229 | 94820428 | 94820549 | 94820490 | 94820490 | Nonsense_Mutation | G | A | p.Q1331* |
| BLCA | TCGA-GV-A6ZA-01 | exon_skip_443250 | 94878888 | 94879031 | 94878950 | 94878950 | Nonsense_Mutation | G | A | p.Q58* |
| BRCA | TCGA-AC-A23C-01 | exon_skip_443239 | 94852057 | 94852113 | 94852114 | 94852114 | Splice_Site | C | A | e22-1 |
| KIRC | TCGA-A3-3372-01 | exon_skip_443244 | 94863717 | 94863856 | 94863716 | 94863716 | Splice_Site | C | - | . |
| STAD | TCGA-BR-7707-01 | exon_skip_443246 | 94872521 | 94872629 | 94872520 | 94872520 | Splice_Site | C | T | . |
| STAD | TCGA-BR-7707-01 | exon_skip_443246 | 94872521 | 94872629 | 94872520 | 94872520 | Splice_Site | C | T | p.G251_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-AC-A23C-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_443239 | |
| Skipped exon start: 94852057 | |
| Skipped exon end: 94852113 | |
| Mutation start: 94852114 | |
| Mutation end: 94852114 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: e22-1 | |
exon_skip_385593_BRCA_TCGA-AC-A23C-01.png | |
exon_skip_43714_BRCA_TCGA-AC-A23C-01.png | |
exon_skip_443239_BRCA_TCGA-AC-A23C-01.png | |
exon_skip_514095_BRCA_TCGA-AC-A23C-01.png | |
| - 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 |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 94839518 | 94839642 | 94839564 | 94839564 | Frame_Shift_Del | A | - | p.F1057fs |
| HO1U1_UPPER_AERODIGESTIVE_TRACT | 94820428 | 94820549 | 94820478 | 94820478 | Missense_Mutation | C | T | p.G1335S |
| HDLM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 94820428 | 94820549 | 94820498 | 94820498 | Missense_Mutation | G | C | p.S1328C |
| SKOV3_OVARY | 94820428 | 94820549 | 94820508 | 94820508 | Missense_Mutation | C | T | p.E1325K |
| COLO792_SKIN | 94820428 | 94820549 | 94820513 | 94820513 | Missense_Mutation | G | A | p.S1323F |
| HS834T_FIBROBLAST | 94820428 | 94820549 | 94820523 | 94820523 | Missense_Mutation | A | C | p.Y1320D |
| KM12_LARGE_INTESTINE | 94834074 | 94834295 | 94834117 | 94834117 | Missense_Mutation | G | T | p.R1174S |
| LB2518MEL_SKIN | 94834074 | 94834295 | 94834171 | 94834171 | Missense_Mutation | C | G | p.D1156H |
| OC316_OVARY | 94834074 | 94834295 | 94834229 | 94834229 | Missense_Mutation | C | A | p.Q1136H |
| OC314_OVARY | 94834074 | 94834295 | 94834229 | 94834229 | Missense_Mutation | C | A | p.Q1136H |
| IALM_LUNG | 94834074 | 94834295 | 94834276 | 94834276 | Missense_Mutation | T | C | p.T1121A |
| SISO_CERVIX | 94839518 | 94839642 | 94839557 | 94839557 | Missense_Mutation | C | A | p.A1060S |
| NCCIT_TESTIS | 94852057 | 94852113 | 94852109 | 94852109 | Missense_Mutation | G | T | p.A861D |
| GP2D_LARGE_INTESTINE | 94856420 | 94856522 | 94856512 | 94856512 | Missense_Mutation | T | A | p.E674D |
| GP5D_LARGE_INTESTINE | 94856420 | 94856522 | 94856512 | 94856512 | Missense_Mutation | T | A | p.E674D |
| NCIH1373_LUNG | 94863717 | 94863856 | 94863849 | 94863849 | Missense_Mutation | C | A | p.K334N |
| HEC108_ENDOMETRIUM | 94878888 | 94879031 | 94879027 | 94879027 | Missense_Mutation | A | G | p.V32A |
| IPC298_SKIN | 94856420 | 94856522 | 94856428 | 94856428 | Nonsense_Mutation | A | T | p.Y702* |
| HEC108_ENDOMETRIUM | 94852376 | 94852454 | 94852377 | 94852377 | Splice_Site | A | G | p.S838S |
| RCCJW_KIDNEY | 94863717 | 94863856 | 94863718 | 94863718 | Splice_Site | T | C | p.Q378R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TTC37 |
| 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 TTC37 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TTC37 |
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RelatedDrugs for TTC37 |
| 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 TTC37 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TTC37 | C1857276 | Trichohepatoenteric Syndrome | 1 | ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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