|
||||||
|
 | |
| |
| |
| |
| 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 TTC27 |
 Gene summary |
| Gene information | Gene symbol | TTC27 | Gene ID | 55622 |
| Gene name | tetratricopeptide repeat domain 27 | |
| Synonyms | - | |
| Cytomap | 2p22.3 | |
| Type of gene | protein-coding | |
| Description | tetratricopeptide repeat protein 27TPR repeat protein 27 | |
| Modification date | 20180519 | |
| UniProtAcc | Q6P3X3 | |
| Context | PubMed: TTC27 [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 |
Top |
Exon skipping events across known transcript of Ensembl for TTC27 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 TTC27 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for TTC27 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_324730 | 2 | 32853222:32853447:32855589:32855767:32858942:32859072 | 32855589:32855767 | ENSG00000018699.7 | ENST00000317907.4 |
| exon_skip_324733 | 2 | 32855589:32855767:32858942:32859072:32865336:32865435 | 32858942:32859072 | ENSG00000018699.7 | ENST00000448773.1,ENST00000317907.4 |
| exon_skip_324735 | 2 | 32858942:32859072:32865336:32865477:32875197:32875300 | 32865336:32865477 | ENSG00000018699.7 | ENST00000317907.4 |
| exon_skip_324736 | 2 | 32889369:32889534:32891701:32891835:32897338:32897451 | 32891701:32891835 | ENSG00000018699.7 | ENST00000317907.4 |
| exon_skip_324738 | 2 | 32897338:32897451:32903922:32903989:32927873:32927987 | 32903922:32903989 | ENSG00000018699.7 | ENST00000317907.4 |
| exon_skip_324739 | 2 | 32903944:32903989:32927873:32927987:32958894:32958988 | 32927873:32927987 | ENSG00000018699.7 | ENST00000454690.1,ENST00000317907.4 |
| exon_skip_324741 | 2 | 32958894:32958990:32961760:32961883:32983358:32983586 | 32961760:32961883 | ENSG00000018699.7 | ENST00000317907.4 |
| exon_skip_324743 | 2 | 32961851:32961883:32983358:32983586:33002948:33003047 | 32983358:32983586 | ENSG00000018699.7 | ENST00000317907.4 |
| exon_skip_324745 | 2 | 32983358:32983586:32991534:32991616:33002948:33003047 | 32991534:32991616 | ENSG00000018699.7 | ENST00000433416.1 |
| exon_skip_324746 | 2 | 32983358:32983586:33002948:33003047:33007692:33007745 | 33002948:33003047 | ENSG00000018699.7 | ENST00000317907.4 |
| exon_skip_324749 | 2 | 33002948:33003047:33005120:33005179:33007692:33007745 | 33005120:33005179 | ENSG00000018699.7 | ENST00000428527.1 |
| exon_skip_324750 | 2 | 33007692:33007745:33012050:33012216:33036090:33036288 | 33012050:33012216 | ENSG00000018699.7 | ENST00000428527.1,ENST00000317907.4 |
| exon_skip_324753 | 2 | 33012050:33012216:33036090:33036288:33037570:33037682 | 33036090:33036288 | ENSG00000018699.7 | ENST00000428527.1,ENST00000317907.4 |
| exon_skip_324758 | 2 | 33036090:33036288:33037570:33037682:33042523:33042624 | 33037570:33037682 | ENSG00000018699.7 | ENST00000317907.4 |
| exon_skip_324760 | 2 | 33037570:33037682:33042523:33042624:33045882:33046118 | 33042523:33042624 | ENSG00000018699.7 | ENST00000317907.4 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for TTC27 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_324730 | 2 | 32853222:32853447:32855589:32855767:32858942:32859072 | 32855589:32855767 | ENSG00000018699.7 | ENST00000317907.4 |
| exon_skip_324733 | 2 | 32855589:32855767:32858942:32859072:32865336:32865435 | 32858942:32859072 | ENSG00000018699.7 | ENST00000448773.1,ENST00000317907.4 |
| exon_skip_324735 | 2 | 32858942:32859072:32865336:32865477:32875197:32875300 | 32865336:32865477 | ENSG00000018699.7 | ENST00000317907.4 |
| exon_skip_324736 | 2 | 32889369:32889534:32891701:32891835:32897338:32897451 | 32891701:32891835 | ENSG00000018699.7 | ENST00000317907.4 |
| exon_skip_324738 | 2 | 32897338:32897451:32903922:32903989:32927873:32927987 | 32903922:32903989 | ENSG00000018699.7 | ENST00000317907.4 |
| exon_skip_324739 | 2 | 32903944:32903989:32927873:32927987:32958894:32958988 | 32927873:32927987 | ENSG00000018699.7 | ENST00000317907.4,ENST00000454690.1 |
| exon_skip_324741 | 2 | 32958894:32958990:32961760:32961883:32983358:32983586 | 32961760:32961883 | ENSG00000018699.7 | ENST00000317907.4 |
| exon_skip_324743 | 2 | 32961851:32961883:32983358:32983586:33002948:33003047 | 32983358:32983586 | ENSG00000018699.7 | ENST00000317907.4 |
| exon_skip_324745 | 2 | 32983358:32983586:32991534:32991616:33002948:33003047 | 32991534:32991616 | ENSG00000018699.7 | ENST00000433416.1 |
| exon_skip_324746 | 2 | 32983358:32983586:33002948:33003047:33007692:33007745 | 33002948:33003047 | ENSG00000018699.7 | ENST00000317907.4 |
| exon_skip_324749 | 2 | 33002948:33003047:33005120:33005179:33007692:33007745 | 33005120:33005179 | ENSG00000018699.7 | ENST00000428527.1 |
| exon_skip_324750 | 2 | 33007692:33007745:33012050:33012216:33036090:33036288 | 33012050:33012216 | ENSG00000018699.7 | ENST00000317907.4,ENST00000428527.1 |
| exon_skip_324753 | 2 | 33012050:33012216:33036090:33036288:33037570:33037682 | 33036090:33036288 | ENSG00000018699.7 | ENST00000317907.4,ENST00000428527.1 |
| exon_skip_324758 | 2 | 33036090:33036288:33037570:33037682:33042523:33042624 | 33037570:33037682 | ENSG00000018699.7 | ENST00000317907.4 |
| exon_skip_324760 | 2 | 33037570:33037682:33042523:33042624:33045882:33046118 | 33042523:33042624 | ENSG00000018699.7 | ENST00000317907.4 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for TTC27 |
| 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 |
| ENST00000317907 | 32855589 | 32855767 | Frame-shift |
| ENST00000317907 | 32858942 | 32859072 | Frame-shift |
| ENST00000317907 | 32891701 | 32891835 | Frame-shift |
| ENST00000317907 | 32903922 | 32903989 | Frame-shift |
| ENST00000317907 | 33012050 | 33012216 | Frame-shift |
| ENST00000317907 | 33037570 | 33037682 | Frame-shift |
| ENST00000317907 | 33042523 | 33042624 | Frame-shift |
| ENST00000317907 | 32865336 | 32865477 | In-frame |
| ENST00000317907 | 32927873 | 32927987 | In-frame |
| ENST00000317907 | 32961760 | 32961883 | In-frame |
| ENST00000317907 | 32983358 | 32983586 | In-frame |
| ENST00000317907 | 33002948 | 33003047 | In-frame |
| ENST00000317907 | 33036090 | 33036288 | 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 |
| ENST00000317907 | 32855589 | 32855767 | Frame-shift |
| ENST00000317907 | 32858942 | 32859072 | Frame-shift |
| ENST00000317907 | 32891701 | 32891835 | Frame-shift |
| ENST00000317907 | 32903922 | 32903989 | Frame-shift |
| ENST00000317907 | 33012050 | 33012216 | Frame-shift |
| ENST00000317907 | 33037570 | 33037682 | Frame-shift |
| ENST00000317907 | 33042523 | 33042624 | Frame-shift |
| ENST00000317907 | 32865336 | 32865477 | In-frame |
| ENST00000317907 | 32927873 | 32927987 | In-frame |
| ENST00000317907 | 32961760 | 32961883 | In-frame |
| ENST00000317907 | 32983358 | 32983586 | In-frame |
| ENST00000317907 | 33002948 | 33003047 | In-frame |
| ENST00000317907 | 33036090 | 33036288 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for TTC27 |
| 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 |
| ENST00000317907 | 2893 | 843 | 32865336 | 32865477 | 628 | 768 | 132 | 179 |
| ENST00000317907 | 2893 | 843 | 32927873 | 32927987 | 1351 | 1464 | 373 | 411 |
| ENST00000317907 | 2893 | 843 | 32961760 | 32961883 | 1561 | 1683 | 443 | 484 |
| ENST00000317907 | 2893 | 843 | 32983358 | 32983586 | 1684 | 1911 | 484 | 560 |
| ENST00000317907 | 2893 | 843 | 33002948 | 33003047 | 1912 | 2010 | 560 | 593 |
| ENST00000317907 | 2893 | 843 | 33036090 | 33036288 | 2230 | 2427 | 666 | 732 |
| 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 |
| ENST00000317907 | 2893 | 843 | 32865336 | 32865477 | 628 | 768 | 132 | 179 |
| ENST00000317907 | 2893 | 843 | 32927873 | 32927987 | 1351 | 1464 | 373 | 411 |
| ENST00000317907 | 2893 | 843 | 32961760 | 32961883 | 1561 | 1683 | 443 | 484 |
| ENST00000317907 | 2893 | 843 | 32983358 | 32983586 | 1684 | 1911 | 484 | 560 |
| ENST00000317907 | 2893 | 843 | 33002948 | 33003047 | 1912 | 2010 | 560 | 593 |
| ENST00000317907 | 2893 | 843 | 33036090 | 33036288 | 2230 | 2427 | 666 | 732 |
| 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 |
| Q6P3X3 | 132 | 179 | 1 | 843 | Chain | ID=PRO_0000295096;Note=Tetratricopeptide repeat protein 27 |
| Q6P3X3 | 373 | 411 | 1 | 843 | Chain | ID=PRO_0000295096;Note=Tetratricopeptide repeat protein 27 |
| Q6P3X3 | 443 | 484 | 1 | 843 | Chain | ID=PRO_0000295096;Note=Tetratricopeptide repeat protein 27 |
| Q6P3X3 | 443 | 484 | 476 | 476 | Natural variant | ID=VAR_033207;Note=Y->C;Dbxref=dbSNP:rs2273660 |
| Q6P3X3 | 443 | 484 | 453 | 486 | Repeat | Note=TPR 1 |
| Q6P3X3 | 484 | 560 | 1 | 843 | Chain | ID=PRO_0000295096;Note=Tetratricopeptide repeat protein 27 |
| Q6P3X3 | 484 | 560 | 498 | 498 | Natural variant | ID=VAR_061905;Note=T->M;Dbxref=dbSNP:rs34188947 |
| Q6P3X3 | 484 | 560 | 525 | 525 | Natural variant | ID=VAR_033208;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs2273664,PMID:14702039 |
| Q6P3X3 | 484 | 560 | 453 | 486 | Repeat | Note=TPR 1 |
| Q6P3X3 | 484 | 560 | 492 | 525 | Repeat | Note=TPR 2 |
| Q6P3X3 | 484 | 560 | 527 | 560 | Repeat | Note=TPR 3 |
| Q6P3X3 | 560 | 593 | 1 | 843 | Chain | ID=PRO_0000295096;Note=Tetratricopeptide repeat protein 27 |
| Q6P3X3 | 560 | 593 | 586 | 586 | Natural variant | ID=VAR_052628;Note=R->H;Dbxref=dbSNP:rs17012268 |
| Q6P3X3 | 560 | 593 | 527 | 560 | Repeat | Note=TPR 3 |
| Q6P3X3 | 560 | 593 | 561 | 594 | Repeat | Note=TPR 4 |
| Q6P3X3 | 560 | 593 | 563 | 563 | Sequence conflict | Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q6P3X3 | 666 | 732 | 1 | 843 | Chain | ID=PRO_0000295096;Note=Tetratricopeptide repeat protein 27 |
| 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 |
| Q6P3X3 | 132 | 179 | 1 | 843 | Chain | ID=PRO_0000295096;Note=Tetratricopeptide repeat protein 27 |
| Q6P3X3 | 373 | 411 | 1 | 843 | Chain | ID=PRO_0000295096;Note=Tetratricopeptide repeat protein 27 |
| Q6P3X3 | 443 | 484 | 1 | 843 | Chain | ID=PRO_0000295096;Note=Tetratricopeptide repeat protein 27 |
| Q6P3X3 | 443 | 484 | 476 | 476 | Natural variant | ID=VAR_033207;Note=Y->C;Dbxref=dbSNP:rs2273660 |
| Q6P3X3 | 443 | 484 | 453 | 486 | Repeat | Note=TPR 1 |
| Q6P3X3 | 484 | 560 | 1 | 843 | Chain | ID=PRO_0000295096;Note=Tetratricopeptide repeat protein 27 |
| Q6P3X3 | 484 | 560 | 498 | 498 | Natural variant | ID=VAR_061905;Note=T->M;Dbxref=dbSNP:rs34188947 |
| Q6P3X3 | 484 | 560 | 525 | 525 | Natural variant | ID=VAR_033208;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs2273664,PMID:14702039 |
| Q6P3X3 | 484 | 560 | 453 | 486 | Repeat | Note=TPR 1 |
| Q6P3X3 | 484 | 560 | 492 | 525 | Repeat | Note=TPR 2 |
| Q6P3X3 | 484 | 560 | 527 | 560 | Repeat | Note=TPR 3 |
| Q6P3X3 | 560 | 593 | 1 | 843 | Chain | ID=PRO_0000295096;Note=Tetratricopeptide repeat protein 27 |
| Q6P3X3 | 560 | 593 | 586 | 586 | Natural variant | ID=VAR_052628;Note=R->H;Dbxref=dbSNP:rs17012268 |
| Q6P3X3 | 560 | 593 | 527 | 560 | Repeat | Note=TPR 3 |
| Q6P3X3 | 560 | 593 | 561 | 594 | Repeat | Note=TPR 4 |
| Q6P3X3 | 560 | 593 | 563 | 563 | Sequence conflict | Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q6P3X3 | 666 | 732 | 1 | 843 | Chain | ID=PRO_0000295096;Note=Tetratricopeptide repeat protein 27 |
Top |
SNVs in the skipped exons for TTC27 |
| - 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. |
TTC27_CESC_exon_skip_324730_psi_boxplot.png |
TTC27_LUSC_exon_skip_324730_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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_324733 | 32858943 | 32859072 | 32859010 | 32859010 | Frame_Shift_Del | C | - | p.P113fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_324733 | 32858943 | 32859072 | 32859010 | 32859010 | Frame_Shift_Del | C | - | p.P113fs |
| STAD | TCGA-BR-6452-01 | exon_skip_324733 | 32858943 | 32859072 | 32859010 | 32859010 | Frame_Shift_Del | C | - | p.G111fs |
| STAD | TCGA-BR-8487-01 | exon_skip_324733 | 32858943 | 32859072 | 32859010 | 32859010 | Frame_Shift_Del | C | - | p.G111fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_324733 | 32858943 | 32859072 | 32859037 | 32859037 | Frame_Shift_Del | T | - | p.F121fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_324733 | 32858943 | 32859072 | 32859037 | 32859037 | Frame_Shift_Del | T | - | p.F121fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_324741 | 32961761 | 32961883 | 32961807 | 32961807 | Frame_Shift_Del | C | - | p.A459fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_324743 | 32983359 | 32983586 | 32983389 | 32983389 | Frame_Shift_Del | A | - | p.K496fs |
| LUAD | TCGA-17-Z055-01 | exon_skip_324753 | 33036091 | 33036288 | 33036200 | 33036200 | Frame_Shift_Del | C | - | p.S703fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_324753 | 33036091 | 33036288 | 33036210 | 33036210 | Frame_Shift_Del | A | - | p.T706fs |
| LIHC | TCGA-2Y-A9GY-01 | exon_skip_324760 | 33042524 | 33042624 | 33042572 | 33042572 | Frame_Shift_Del | A | - | p.Q786fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_324760 | 33042524 | 33042624 | 33042602 | 33042602 | Frame_Shift_Del | G | - | p.R796fs |
| ESCA | TCGA-L5-A8NE-01 | exon_skip_324733 | 32858943 | 32859072 | 32859031 | 32859031 | Nonsense_Mutation | C | T | p.Q119* |
| ESCA | TCGA-L5-A8NE-01 | exon_skip_324733 | 32858943 | 32859072 | 32859031 | 32859031 | Nonsense_Mutation | C | T | p.Q119X |
| PAAD | TCGA-IB-A7LX-01 | exon_skip_324733 | 32858943 | 32859072 | 32859044 | 32859044 | Nonsense_Mutation | C | A | p.S123X |
| UCS | TCGA-N5-A4RJ-01 | exon_skip_324743 | 32983359 | 32983586 | 32983377 | 32983377 | Nonsense_Mutation | C | T | p.Q491* |
| KIRP | TCGA-P4-A5E7-01 | exon_skip_324746 | 33002949 | 33003047 | 33002960 | 33002960 | Nonsense_Mutation | G | A | p.W564* |
| LUAD | TCGA-50-5946-01 | exon_skip_324758 | 33037571 | 33037682 | 33037582 | 33037582 | Nonsense_Mutation | C | A | p.C736* |
| COAD | TCGA-AA-A00U-01 | exon_skip_324758 | 33037571 | 33037682 | 33037597 | 33037597 | Nonsense_Mutation | C | A | p.Y691X |
| CESC | TCGA-Q1-A73O-01 | exon_skip_324730 | 32855590 | 32855767 | 32855589 | 32855589 | Splice_Site | G | A | e2-1 |
| LUSC | TCGA-33-4538-01 | exon_skip_324730 | 32855590 | 32855767 | 32855589 | 32855589 | Splice_Site | G | T | p.E30_splice |
| LUSC | TCGA-66-2734-01 | exon_skip_324730 | 32855590 | 32855767 | 32855589 | 32855589 | Splice_Site | G | T | p.E30_splice |
| UCEC | TCGA-AP-A059-01 | exon_skip_324738 | 32903923 | 32903989 | 32903922 | 32903922 | Splice_Site | G | T | e9-1 |
| UCEC | TCGA-B5-A11R-01 | exon_skip_324750 | 33012051 | 33012216 | 33012050 | 33012050 | Splice_Site | G | C | e16-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-Q1-A73O-01 |
| Cancer type: CESC | |
| ESID: exon_skip_324730 | |
| Skipped exon start: 32855590 | |
| Skipped exon end: 32855767 | |
| Mutation start: 32855589 | |
| Mutation end: 32855589 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: e2-1 | |
exon_skip_324730_CESC_TCGA-Q1-A73O-01.png | |
exon_skip_339359_CESC_TCGA-Q1-A73O-01.png | |
exon_skip_383170_CESC_TCGA-Q1-A73O-01.png | |
exon_skip_54542_CESC_TCGA-Q1-A73O-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 | 32858943 | 32859072 | 32859006 | 32859006 | Frame_Shift_Del | G | - | p.T110fs |
| HCC1569_BREAST | 32858943 | 32859072 | 32859010 | 32859010 | Frame_Shift_Del | C | - | p.P113fs |
| SISO_CERVIX | 33012051 | 33012216 | 33012087 | 33012103 | Frame_Shift_Del | GTGTAACTATGAACACT | - | p.CNYEHW624fs |
| PK59_PANCREAS | 32855590 | 32855767 | 32855754 | 32855754 | Missense_Mutation | G | A | p.D85N |
| MFE319_ENDOMETRIUM | 32858943 | 32859072 | 32858983 | 32858983 | Missense_Mutation | C | T | p.L103F |
| DU4475_BREAST | 32858943 | 32859072 | 32859054 | 32859054 | Missense_Mutation | G | T | p.L126F |
| HEC59_ENDOMETRIUM | 32865337 | 32865477 | 32865413 | 32865413 | Missense_Mutation | C | A | p.P158H |
| KPNYS_AUTONOMIC_GANGLIA | 32865337 | 32865477 | 32865467 | 32865467 | Missense_Mutation | C | G | p.T176R |
| MM370_SKIN | 32891702 | 32891835 | 32891774 | 32891775 | Missense_Mutation | GG | AA | p.G293E |
| NCIH2009_LUNG | 32903923 | 32903989 | 32903946 | 32903946 | Missense_Mutation | C | T | p.P359L |
| NCIH720_LUNG | 32903923 | 32903989 | 32903949 | 32903949 | Missense_Mutation | T | C | p.V360A |
| TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32927874 | 32927987 | 32927913 | 32927913 | Missense_Mutation | T | C | p.S387P |
| SKNDZ_AUTONOMIC_GANGLIA | 32927874 | 32927987 | 32927955 | 32927955 | Missense_Mutation | C | T | p.R401C |
| SW480_LARGE_INTESTINE | 32927874 | 32927987 | 32927967 | 32927967 | Missense_Mutation | C | T | p.R405W |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32961761 | 32961883 | 32961869 | 32961869 | Missense_Mutation | G | A | p.G480R |
| BT483_BREAST | 32983359 | 32983586 | 32983365 | 32983365 | Missense_Mutation | G | A | p.E487K |
| SNUC5_LARGE_INTESTINE | 32983359 | 32983586 | 32983474 | 32983474 | Missense_Mutation | G | A | p.R523Q |
| GAK_SKIN | 32983359 | 32983586 | 32983479 | 32983479 | Missense_Mutation | C | G | p.R525G |
| HEC251_ENDOMETRIUM | 32983359 | 32983586 | 32983557 | 32983557 | Missense_Mutation | G | A | p.E551K |
| LNCAPCLONEFGC_PROSTATE | 32983359 | 32983586 | 32983579 | 32983579 | Missense_Mutation | C | A | p.P558H |
| TE4_OESOPHAGUS | 33002949 | 33003047 | 33002959 | 33002959 | Missense_Mutation | G | T | p.W564L |
| YD8_UPPER_AERODIGESTIVE_TRACT | 33012051 | 33012216 | 33012097 | 33012097 | Missense_Mutation | G | A | p.E627K |
| NCIH740_LUNG | 33036091 | 33036288 | 33036103 | 33036103 | Missense_Mutation | C | G | p.L671V |
| SW480_LARGE_INTESTINE | 33036091 | 33036288 | 33036146 | 33036146 | Missense_Mutation | A | G | p.D685G |
| VAL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 33036091 | 33036288 | 33036269 | 33036269 | Missense_Mutation | A | G | p.K726R |
| DOV13_OVARY | 33037571 | 33037682 | 33037664 | 33037664 | Missense_Mutation | G | A | p.A764T |
| SNU1040_LARGE_INTESTINE | 33042524 | 33042624 | 33042587 | 33042587 | Missense_Mutation | T | G | p.V791G |
| HCC15_LUNG | 32891702 | 32891835 | 32891770 | 32891770 | Nonsense_Mutation | G | T | p.E292* |
| HCC2998_LARGE_INTESTINE | 33042524 | 33042624 | 33042589 | 33042589 | Nonsense_Mutation | C | T | p.R792* |
| GDM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32961761 | 32961883 | 32961761 | 32961761 | Splice_Site | C | T | p.R444C |
| MZ2MEL_SKIN | 32961761 | 32961883 | 32961883 | 32961883 | Splice_Site | G | A | p.K484K |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TTC27 |
| 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 TTC27 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TTC27 |
Top |
RelatedDrugs for TTC27 |
| 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 TTC27 |
| 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)
|