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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 TTC6 |
 Gene summary |
| Gene information | Gene symbol | TTC6 | Gene ID | 319089 |
| Gene name | tetratricopeptide repeat domain 6 | |
| Synonyms | C14orf25|NCRNA00291 | |
| Cytomap | 14q21.1 | |
| Type of gene | protein-coding | |
| Description | tetratricopeptide repeat protein 6TPR repeat protein 6 | |
| Modification date | 20180331 | |
| UniProtAcc | Q86TZ1 | |
| Context | PubMed: TTC6 [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 TTC6 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 TTC6 |
| 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 TTC6 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_106161 | 14 | 38151962:38152169:38165899:38166040:38170536:38170731 | 38165899:38166040 | ENSG00000139865.12 | ENST00000533625.1 |
| exon_skip_106162 | 14 | 38151962:38152169:38165921:38166040:38170536:38170731 | 38165921:38166040 | ENSG00000139865.12 | ENST00000553443.1 |
| exon_skip_106163 | 14 | 38170536:38170731:38183859:38184001:38194102:38194207 | 38183859:38184001 | ENSG00000139865.12 | ENST00000533625.1,ENST00000553443.1 |
| exon_skip_106169 | 14 | 38218918:38219048:38220257:38220430:38222303:38222440 | 38220257:38220430 | ENSG00000139865.12 | ENST00000553443.1 |
| exon_skip_106180 | 14 | 38256672:38256842:38259921:38260042:38261468:38261619 | 38259921:38260042 | ENSG00000139865.12 | ENST00000553443.1 |
| exon_skip_106183 | 14 | 38264512:38264557:38265498:38265575:38265991:38266152 | 38265498:38265575 | ENSG00000139865.12 | ENST00000478811.2,ENST00000267368.7,ENST00000382320.3,ENST00000476979.1,ENST00000553443.1 |
| exon_skip_106185 | 14 | 38265991:38266152:38273884:38274019:38277937:38278051 | 38273884:38274019 | ENSG00000139865.12 | ENST00000267368.7,ENST00000476979.1 |
| exon_skip_106197 | 14 | 38273884:38274019:38275565:38275715:38276524:38276665 | 38275565:38275715 | ENSG00000139865.12 | ENST00000478811.2,ENST00000382320.3,ENST00000553443.1 |
| exon_skip_106202 | 14 | 38277937:38278051:38281518:38281638:38286782:38286856 | 38281518:38281638 | ENSG00000139865.12 | ENST00000478811.2,ENST00000267368.7,ENST00000382320.3,ENST00000476979.1,ENST00000553443.1 |
| exon_skip_106211 | 14 | 38295399:38295552:38296400:38296571:38310649:38310875 | 38296400:38296571 | ENSG00000139865.12 | ENST00000267368.7,ENST00000476979.1,ENST00000553443.1 |
| exon_skip_106214 | 14 | 38296505:38296571:38306526:38306747:38310649:38310772 | 38306526:38306747 | ENSG00000139865.12 | ENST00000478811.2,ENST00000382320.3,ENST00000555921.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TTC6 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_106161 | 14 | 38151962:38152169:38165899:38166040:38170536:38170731 | 38165899:38166040 | ENSG00000139865.12 | ENST00000533625.1 |
| exon_skip_106162 | 14 | 38151962:38152169:38165921:38166040:38170536:38170731 | 38165921:38166040 | ENSG00000139865.12 | ENST00000553443.1 |
| exon_skip_106163 | 14 | 38170536:38170731:38183859:38184001:38194102:38194207 | 38183859:38184001 | ENSG00000139865.12 | ENST00000533625.1,ENST00000553443.1 |
| exon_skip_106169 | 14 | 38218918:38219048:38220257:38220430:38222303:38222440 | 38220257:38220430 | ENSG00000139865.12 | ENST00000553443.1 |
| exon_skip_106183 | 14 | 38264512:38264557:38265498:38265575:38265991:38266152 | 38265498:38265575 | ENSG00000139865.12 | ENST00000553443.1,ENST00000476979.1,ENST00000267368.7,ENST00000478811.2,ENST00000382320.3 |
| exon_skip_106197 | 14 | 38273884:38274019:38275565:38275715:38276524:38276665 | 38275565:38275715 | ENSG00000139865.12 | ENST00000553443.1,ENST00000478811.2,ENST00000382320.3 |
| exon_skip_106202 | 14 | 38277937:38278051:38281518:38281638:38286782:38286856 | 38281518:38281638 | ENSG00000139865.12 | ENST00000553443.1,ENST00000476979.1,ENST00000267368.7,ENST00000478811.2,ENST00000382320.3 |
| exon_skip_106211 | 14 | 38295399:38295552:38296400:38296571:38310649:38310875 | 38296400:38296571 | ENSG00000139865.12 | ENST00000553443.1,ENST00000476979.1,ENST00000267368.7 |
| exon_skip_106214 | 14 | 38296505:38296571:38306526:38306747:38310649:38310772 | 38306526:38306747 | ENSG00000139865.12 | ENST00000478811.2,ENST00000382320.3,ENST00000555921.1 |
| exon_skip_106219 | 14 | 38343664:38343768:38385702:38385759:38395383:38395512 | 38385702:38385759 | ENSG00000139865.12 | ENST00000533625.1 |
| 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 TTC6 |
| 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 |
| ENST00000267368 | 38265498 | 38265575 | 5CDS-5UTR |
| ENST00000476979 | 38265498 | 38265575 | 5CDS-5UTR |
| ENST00000267368 | 38273884 | 38274019 | In-frame |
| ENST00000476979 | 38273884 | 38274019 | In-frame |
| ENST00000267368 | 38281518 | 38281638 | In-frame |
| ENST00000476979 | 38281518 | 38281638 | In-frame |
| ENST00000267368 | 38296400 | 38296571 | In-frame |
| ENST00000476979 | 38296400 | 38296571 | 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 |
| ENST00000267368 | 38265498 | 38265575 | 5CDS-5UTR |
| ENST00000476979 | 38265498 | 38265575 | 5CDS-5UTR |
| ENST00000267368 | 38281518 | 38281638 | In-frame |
| ENST00000476979 | 38281518 | 38281638 | In-frame |
| ENST00000267368 | 38296400 | 38296571 | In-frame |
| ENST00000476979 | 38296400 | 38296571 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TTC6 |
| 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 |
| ENST00000267368 | 2130 | 520 | 38273884 | 38274019 | 379 | 513 | 74 | 119 |
| ENST00000476979 | 2270 | 520 | 38273884 | 38274019 | 510 | 644 | 74 | 119 |
| ENST00000267368 | 2130 | 520 | 38281518 | 38281638 | 628 | 747 | 157 | 197 |
| ENST00000476979 | 2270 | 520 | 38281518 | 38281638 | 759 | 878 | 157 | 197 |
| ENST00000267368 | 2130 | 520 | 38296400 | 38296571 | 1186 | 1356 | 343 | 400 |
| ENST00000476979 | 2270 | 520 | 38296400 | 38296571 | 1317 | 1487 | 343 | 400 |
| 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 |
| ENST00000267368 | 2130 | 520 | 38281518 | 38281638 | 628 | 747 | 157 | 197 |
| ENST00000476979 | 2270 | 520 | 38281518 | 38281638 | 759 | 878 | 157 | 197 |
| ENST00000267368 | 2130 | 520 | 38296400 | 38296571 | 1186 | 1356 | 343 | 400 |
| ENST00000476979 | 2270 | 520 | 38296400 | 38296571 | 1317 | 1487 | 343 | 400 |
| 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 |
| Q86TZ1 | 74 | 119 | 119 | 119 | Alternative sequence | ID=VSP_056322;Note=In isoform 2. M->MAFDSFTKAVKANPDFAESFYQRGLCKVKLHKDSSILDFNRAITLNPKHYQAYLSRVAFYGLKGRYSKAILNCNKAIKIYPESVRAYLYRGVLKYYNK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q86TZ1 | 74 | 119 | 119 | 119 | Alternative sequence | ID=VSP_056322;Note=In isoform 2. M->MAFDSFTKAVKANPDFAESFYQRGLCKVKLHKDSSILDFNRAITLNPKHYQAYLSRVAFYGLKGRYSKAILNCNKAIKIYPESVRAYLYRGVLKYYNK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q86TZ1 | 74 | 119 | 1 | 520 | Chain | ID=PRO_0000106384;Note=Tetratricopeptide repeat protein 6 |
| Q86TZ1 | 74 | 119 | 1 | 520 | Chain | ID=PRO_0000106384;Note=Tetratricopeptide repeat protein 6 |
| Q86TZ1 | 74 | 119 | 87 | 87 | Natural variant | ID=VAR_034132;Note=I->S;Dbxref=dbSNP:rs12896790 |
| Q86TZ1 | 74 | 119 | 87 | 87 | Natural variant | ID=VAR_034132;Note=I->S;Dbxref=dbSNP:rs12896790 |
| Q86TZ1 | 74 | 119 | 98 | 98 | Natural variant | ID=VAR_034133;Note=A->T;Dbxref=dbSNP:rs17768654 |
| Q86TZ1 | 74 | 119 | 98 | 98 | Natural variant | ID=VAR_034133;Note=A->T;Dbxref=dbSNP:rs17768654 |
| Q86TZ1 | 74 | 119 | 57 | 90 | Repeat | Note=TPR 1 |
| Q86TZ1 | 74 | 119 | 57 | 90 | Repeat | Note=TPR 1 |
| Q86TZ1 | 74 | 119 | 101 | 138 | Repeat | Note=TPR 2 |
| Q86TZ1 | 74 | 119 | 101 | 138 | Repeat | Note=TPR 2 |
| Q86TZ1 | 157 | 197 | 1 | 520 | Chain | ID=PRO_0000106384;Note=Tetratricopeptide repeat protein 6 |
| Q86TZ1 | 157 | 197 | 1 | 520 | Chain | ID=PRO_0000106384;Note=Tetratricopeptide repeat protein 6 |
| Q86TZ1 | 157 | 197 | 139 | 172 | Repeat | Note=TPR 3 |
| Q86TZ1 | 157 | 197 | 139 | 172 | Repeat | Note=TPR 3 |
| Q86TZ1 | 157 | 197 | 176 | 209 | Repeat | Note=TPR 4 |
| Q86TZ1 | 157 | 197 | 176 | 209 | Repeat | Note=TPR 4 |
| Q86TZ1 | 343 | 400 | 1 | 520 | Chain | ID=PRO_0000106384;Note=Tetratricopeptide repeat protein 6 |
| Q86TZ1 | 343 | 400 | 1 | 520 | Chain | ID=PRO_0000106384;Note=Tetratricopeptide repeat protein 6 |
| Q86TZ1 | 343 | 400 | 376 | 376 | Natural variant | ID=VAR_034134;Note=T->S;Dbxref=dbSNP:rs17107176 |
| Q86TZ1 | 343 | 400 | 376 | 376 | Natural variant | ID=VAR_034134;Note=T->S;Dbxref=dbSNP:rs17107176 |
| Q86TZ1 | 343 | 400 | 320 | 347 | Repeat | Note=TPR 8 |
| Q86TZ1 | 343 | 400 | 320 | 347 | Repeat | Note=TPR 8 |
| Q86TZ1 | 343 | 400 | 348 | 381 | Repeat | Note=TPR 9 |
| Q86TZ1 | 343 | 400 | 348 | 381 | Repeat | Note=TPR 9 |
| Q86TZ1 | 343 | 400 | 382 | 415 | Repeat | Note=TPR 10 |
| Q86TZ1 | 343 | 400 | 382 | 415 | Repeat | Note=TPR 10 |
| 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 |
| Q86TZ1 | 157 | 197 | 1 | 520 | Chain | ID=PRO_0000106384;Note=Tetratricopeptide repeat protein 6 |
| Q86TZ1 | 157 | 197 | 1 | 520 | Chain | ID=PRO_0000106384;Note=Tetratricopeptide repeat protein 6 |
| Q86TZ1 | 157 | 197 | 139 | 172 | Repeat | Note=TPR 3 |
| Q86TZ1 | 157 | 197 | 139 | 172 | Repeat | Note=TPR 3 |
| Q86TZ1 | 157 | 197 | 176 | 209 | Repeat | Note=TPR 4 |
| Q86TZ1 | 157 | 197 | 176 | 209 | Repeat | Note=TPR 4 |
| Q86TZ1 | 343 | 400 | 1 | 520 | Chain | ID=PRO_0000106384;Note=Tetratricopeptide repeat protein 6 |
| Q86TZ1 | 343 | 400 | 1 | 520 | Chain | ID=PRO_0000106384;Note=Tetratricopeptide repeat protein 6 |
| Q86TZ1 | 343 | 400 | 376 | 376 | Natural variant | ID=VAR_034134;Note=T->S;Dbxref=dbSNP:rs17107176 |
| Q86TZ1 | 343 | 400 | 376 | 376 | Natural variant | ID=VAR_034134;Note=T->S;Dbxref=dbSNP:rs17107176 |
| Q86TZ1 | 343 | 400 | 320 | 347 | Repeat | Note=TPR 8 |
| Q86TZ1 | 343 | 400 | 320 | 347 | Repeat | Note=TPR 8 |
| Q86TZ1 | 343 | 400 | 348 | 381 | Repeat | Note=TPR 9 |
| Q86TZ1 | 343 | 400 | 348 | 381 | Repeat | Note=TPR 9 |
| Q86TZ1 | 343 | 400 | 382 | 415 | Repeat | Note=TPR 10 |
| Q86TZ1 | 343 | 400 | 382 | 415 | Repeat | Note=TPR 10 |
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SNVs in the skipped exons for TTC6 |
| - 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 |
| CESC | TCGA-JX-A3Q0-01 | exon_skip_106183 | 38265499 | 38265575 | 38265554 | 38265554 | Nonsense_Mutation | C | T | p.Q14* |
| - 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 |
| OVSAHO_OVARY | 38183860 | 38184001 | 38183958 | 38183958 | Frame_Shift_Del | G | - | p.R557fs |
| NCIH650_LUNG | 38296401 | 38296571 | 38296530 | 38296530 | Frame_Shift_Del | A | - | p.N387fs |
| MCC13_SKIN | 38183860 | 38184001 | 38183876 | 38183876 | Missense_Mutation | C | T | p.P530S |
| HCC15_LUNG | 38183860 | 38184001 | 38183958 | 38183958 | Missense_Mutation | G | T | p.R557I |
| SHP77_LUNG | 38183860 | 38184001 | 38183992 | 38183992 | Missense_Mutation | G | T | p.L568F |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38265499 | 38265575 | 38265545 | 38265545 | Missense_Mutation | A | G | p.T11A |
| M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38265499 | 38265575 | 38265567 | 38265568 | Missense_Mutation | TG | GT | p.M18S |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38273885 | 38274019 | 38273904 | 38273904 | Missense_Mutation | A | C | p.K81T |
| SNU1040_LARGE_INTESTINE | 38281519 | 38281638 | 38281540 | 38281540 | Missense_Mutation | G | A | p.V165M |
| MFE319_ENDOMETRIUM | 38281519 | 38281638 | 38281541 | 38281541 | Missense_Mutation | T | G | p.V165G |
| SUDHL16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38281519 | 38281638 | 38281574 | 38281574 | Missense_Mutation | T | A | p.L176Q |
| SNB75_CENTRAL_NERVOUS_SYSTEM | 38296401 | 38296571 | 38296432 | 38296432 | Missense_Mutation | G | T | p.R354L |
| SNU81_LARGE_INTESTINE | 38296401 | 38296571 | 38296450 | 38296450 | Missense_Mutation | T | G | p.F360C |
| SARC9371_BONE | 38296401 | 38296571 | 38296504 | 38296504 | Missense_Mutation | A | G | p.N378S |
| JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38281519 | 38281638 | 38281519 | 38281519 | Splice_Site | G | T | p.A158S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TTC6 |
| 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 TTC6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TTC6 |
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RelatedDrugs for TTC6 |
| 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 TTC6 |
| 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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