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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 TTLL6 |
 Gene summary |
| Gene information | Gene symbol | TTLL6 | Gene ID | 284076 |
| Gene name | tubulin tyrosine ligase like 6 | |
| Synonyms | TTL.6 | |
| Cytomap | 17q21.32 | |
| Type of gene | protein-coding | |
| Description | tubulin polyglutamylase TTLL6tubulin tyrosine ligase-like family member 6tubulin--tyrosine ligase-like protein 6 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8N841 | |
| Context | PubMed: TTLL6 [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 TTLL6 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 TTLL6 |
| 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 TTLL6 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_291104 | 17 | 46846350:46846616:46847089:46847459:46862284:46862563 | 46847089:46847459 | ENSG00000170703.11 | ENST00000490027.1,ENST00000433608.2,ENST00000393382.3 |
| exon_skip_291105 | 17 | 46874491:46874566:46876965:46877122:46877433:46877640 | 46876965:46877122 | ENSG00000170703.11 | ENST00000490027.1 |
| exon_skip_291106 | 17 | 46874491:46874566:46876965:46877122:46878616:46878744 | 46876965:46877122 | ENSG00000170703.11 | ENST00000376681.3,ENST00000393382.3,ENST00000509809.1 |
| exon_skip_291109 | 17 | 46876965:46877122:46877433:46877640:46878616:46878744 | 46877433:46877640 | ENSG00000170703.11 | ENST00000490027.1 |
| exon_skip_291110 | 17 | 46878616:46878747:46878886:46879005:46881252:46881290 | 46878886:46879005 | ENSG00000170703.11 | ENST00000490027.1,ENST00000376681.3,ENST00000393382.3,ENST00000509809.1 |
| exon_skip_291111 | 17 | 46882133:46882353:46892695:46892760:46894331:46894503 | 46892695:46892760 | ENSG00000170703.11 | ENST00000456415.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TTLL6 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_291104 | 17 | 46846350:46846616:46847089:46847459:46862284:46862563 | 46847089:46847459 | ENSG00000170703.11 | ENST00000433608.2,ENST00000490027.1,ENST00000393382.3 |
| exon_skip_291105 | 17 | 46874491:46874566:46876965:46877122:46877433:46877640 | 46876965:46877122 | ENSG00000170703.11 | ENST00000490027.1 |
| exon_skip_291106 | 17 | 46874491:46874566:46876965:46877122:46878616:46878744 | 46876965:46877122 | ENSG00000170703.11 | ENST00000393382.3,ENST00000376681.3,ENST00000509809.1 |
| exon_skip_291109 | 17 | 46876965:46877122:46877433:46877640:46878616:46878744 | 46877433:46877640 | ENSG00000170703.11 | ENST00000490027.1 |
| exon_skip_291110 | 17 | 46878616:46878747:46878886:46879005:46881252:46881290 | 46878886:46879005 | ENSG00000170703.11 | ENST00000490027.1,ENST00000393382.3,ENST00000376681.3,ENST00000509809.1 |
| exon_skip_291111 | 17 | 46882133:46882353:46892695:46892760:46894331:46894503 | 46892695:46892760 | ENSG00000170703.11 | ENST00000456415.1 |
| 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 TTLL6 |
| 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 |
| ENST00000393382 | 46847089 | 46847459 | Frame-shift |
| ENST00000433608 | 46847089 | 46847459 | Frame-shift |
| ENST00000393382 | 46876965 | 46877122 | Frame-shift |
| ENST00000393382 | 46878886 | 46879005 | 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 |
| ENST00000393382 | 46847089 | 46847459 | Frame-shift |
| ENST00000433608 | 46847089 | 46847459 | Frame-shift |
| ENST00000393382 | 46876965 | 46877122 | Frame-shift |
| ENST00000393382 | 46878886 | 46879005 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for TTLL6 |
| 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 TTLL6 |
| - 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 |
| KICH | TCGA-KO-8409-01 | exon_skip_291104 | 46847090 | 46847459 | 46847199 | 46847202 | Frame_Shift_Del | CATG | - | p.D766fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_291104 | 46847090 | 46847459 | 46847291 | 46847291 | Frame_Shift_Del | G | - | p.Q737fs |
| LUAD | TCGA-99-8025-01 | exon_skip_291104 | 46847090 | 46847459 | 46847384 | 46847384 | Frame_Shift_Del | C | - | p.A706fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_291105 exon_skip_291106 | 46876966 | 46877122 | 46876998 | 46876998 | Frame_Shift_Del | C | - | p.E246fs |
| UCS | TCGA-N8-A4PQ-01 | exon_skip_291104 | 46847090 | 46847459 | 46847315 | 46847315 | Nonsense_Mutation | G | A | p.Q729* |
| UCS | TCGA-N8-A4PQ-01 | exon_skip_291104 | 46847090 | 46847459 | 46847315 | 46847315 | Nonsense_Mutation | G | A | p.Q729X |
| - 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 |
| CW2_LARGE_INTESTINE | 46847090 | 46847459 | 46847106 | 46847106 | Frame_Shift_Del | C | - | p.G798fs |
| CTB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46876966 | 46877122 | 46877052 | 46877052 | Frame_Shift_Del | A | - | p.C228fs |
| MFHINO_SOFT_TISSUE | 46876966 | 46877122 | 46877052 | 46877052 | Frame_Shift_Del | A | - | p.C228fs |
| NB1_AUTONOMIC_GANGLIA | 46847090 | 46847459 | 46847177 | 46847177 | Missense_Mutation | C | T | p.E775K |
| HCC2218_BREAST | 46847090 | 46847459 | 46847181 | 46847181 | Missense_Mutation | T | C | p.I773M |
| HDLM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46847090 | 46847459 | 46847181 | 46847181 | Missense_Mutation | T | C | p.I773M |
| TT_THYROID | 46847090 | 46847459 | 46847181 | 46847181 | Missense_Mutation | T | C | p.I773M |
| KELLY_AUTONOMIC_GANGLIA | 46847090 | 46847459 | 46847234 | 46847234 | Missense_Mutation | G | C | p.P756A |
| RERFLCKJ_LUNG | 46847090 | 46847459 | 46847241 | 46847242 | Missense_Mutation | CC | AG | p.W753S |
| MELJUSO_SKIN | 46847090 | 46847459 | 46847380 | 46847380 | Missense_Mutation | A | C | p.V707G |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46847090 | 46847459 | 46847414 | 46847414 | Missense_Mutation | A | G | p.S696P |
| KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46876966 | 46877122 | 46877065 | 46877065 | Missense_Mutation | C | G | p.K223N |
| SNU1040_LARGE_INTESTINE | 46876966 | 46877122 | 46877099 | 46877099 | Missense_Mutation | C | A | p.S212I |
| NCIH650_LUNG | 46878887 | 46879005 | 46878955 | 46878955 | Missense_Mutation | C | G | p.D138H |
| HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46847090 | 46847459 | 46847420 | 46847420 | Nonsense_Mutation | G | A | p.Q694* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TTLL6 |
| 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 TTLL6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TTLL6 |
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RelatedDrugs for TTLL6 |
| 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 TTLL6 |
| 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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