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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 TTLL3 |
 Gene summary |
| Gene information | Gene symbol | TTLL3 | Gene ID | 26140 |
| Gene name | tubulin tyrosine ligase like 3 | |
| Synonyms | HOTTL | |
| Cytomap | 3p25.3 | |
| Type of gene | protein-coding | |
| Description | tubulin monoglycylase TTLL3tubulin tyrosine ligase-like family, member 3tubulin--tyrosine ligase-like protein 3 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9Y4R7 | |
| Context | PubMed: TTLL3 [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 |
| TTLL3 | GO:0018094 | protein polyglycylation | 19524510 |
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Exon skipping events across known transcript of Ensembl for TTLL3 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 TTLL3 |
| 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 TTLL3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_371463 | 3 | 9854931:9855029:9857757:9857886:9859328:9859443 | 9857757:9857886 | ENSG00000214021.11 | ENST00000310252.7,ENST00000427220.1,ENST00000452823.1,ENST00000426827.1,ENST00000496526.1,ENST00000427853.3,ENST00000438596.1 |
| exon_skip_371465 | 3 | 9854931:9855029:9867483:9867632:9868680:9868924 | 9867483:9867632 | ENSG00000214021.11 | ENST00000430390.1 |
| exon_skip_371466 | 3 | 9857757:9857886:9859328:9859443:9860238:9860604 | 9859328:9859443 | ENSG00000214021.11 | ENST00000427220.1 |
| exon_skip_371467 | 3 | 9859328:9859443:9860238:9860604:9862229:9862425 | 9860238:9860604 | ENSG00000214021.11 | ENST00000427220.1 |
| exon_skip_371468 | 3 | 9859328:9859443:9860505:9860604:9862229:9862425 | 9860505:9860604 | ENSG00000214021.11 | ENST00000443148.1,ENST00000310252.7,ENST00000547186.1,ENST00000427853.3,ENST00000426895.4,ENST00000397241.1 |
| exon_skip_371469 | 3 | 9868680:9868756:9868898:9868924:9870643:9871079 | 9868898:9868924 | ENSG00000214021.11 | ENST00000473661.1 |
| exon_skip_371470 | 3 | 9870643:9871079:9874787:9874929:9876364:9876591 | 9874787:9874929 | ENSG00000214021.11 | ENST00000547186.1,ENST00000430793.1,ENST00000483051.1,ENST00000426895.4 |
| exon_skip_371472 | 3 | 9874787:9874929:9876110:9876187:9876364:9876591 | 9876110:9876187 | ENSG00000214021.11 | ENST00000473661.1,ENST00000496526.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TTLL3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_371463 | 3 | 9854931:9855029:9857757:9857886:9859328:9859443 | 9857757:9857886 | ENSG00000214021.11 | ENST00000438596.1,ENST00000427220.1,ENST00000426827.1,ENST00000310252.7,ENST00000427853.3,ENST00000496526.1,ENST00000452823.1 |
| exon_skip_371465 | 3 | 9854931:9855029:9867483:9867632:9868680:9868924 | 9867483:9867632 | ENSG00000214021.11 | ENST00000430390.1 |
| exon_skip_371466 | 3 | 9857757:9857886:9859328:9859443:9860238:9860604 | 9859328:9859443 | ENSG00000214021.11 | ENST00000427220.1 |
| exon_skip_371467 | 3 | 9859328:9859443:9860238:9860604:9862229:9862425 | 9860238:9860604 | ENSG00000214021.11 | ENST00000427220.1 |
| exon_skip_371468 | 3 | 9859328:9859443:9860505:9860604:9862229:9862425 | 9860505:9860604 | ENSG00000214021.11 | ENST00000426895.4,ENST00000547186.1,ENST00000397241.1,ENST00000310252.7,ENST00000427853.3,ENST00000443148.1 |
| exon_skip_371469 | 3 | 9868680:9868756:9868898:9868924:9870643:9871079 | 9868898:9868924 | ENSG00000214021.11 | ENST00000473661.1 |
| exon_skip_371470 | 3 | 9870643:9871079:9874787:9874929:9876364:9876591 | 9874787:9874929 | ENSG00000214021.11 | ENST00000426895.4,ENST00000547186.1,ENST00000483051.1,ENST00000430793.1 |
| exon_skip_371472 | 3 | 9874787:9874929:9876110:9876187:9876364:9876591 | 9876110:9876187 | ENSG00000214021.11 | ENST00000496526.1,ENST00000473661.1 |
| 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 TTLL3 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for TTLL3 |
| 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 TTLL3 |
| - 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. |
TTLL3_DLBC_exon_skip_371470_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-G3-A3CJ-01 | exon_skip_371466 | 9859329 | 9859443 | 9859412 | 9859412 | Frame_Shift_Del | G | - | p.L133fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_371469 | 9868899 | 9868924 | 9868906 | 9868906 | Frame_Shift_Del | C | - | p.S155fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_371470 | 9874788 | 9874929 | 9874880 | 9874880 | Frame_Shift_Del | G | - | p.M549fs |
| STAD | TCGA-CG-5728-01 | exon_skip_371466 | 9859329 | 9859443 | 9859427 | 9859428 | Frame_Shift_Ins | - | A | p.D281fs |
| STAD | TCGA-HU-A4GT-01 | exon_skip_371466 | 9859329 | 9859443 | 9859427 | 9859428 | Frame_Shift_Ins | - | A | p.D281fs |
| STAD | TCGA-CG-5728-01 | exon_skip_371466 | 9859329 | 9859443 | 9859428 | 9859429 | Frame_Shift_Ins | - | A | p.D138fs |
| STAD | TCGA-HU-A4GT-01 | exon_skip_371466 | 9859329 | 9859443 | 9859428 | 9859429 | Frame_Shift_Ins | - | A | p.D138fs |
| UCEC | TCGA-AP-A059-01 | exon_skip_371467 | 9860239 | 9860604 | 9860507 | 9860507 | Nonsense_Mutation | G | T | p.G100* |
| UCEC | TCGA-AP-A059-01 | exon_skip_371468 | 9860506 | 9860604 | 9860507 | 9860507 | Nonsense_Mutation | G | T | p.G100* |
| DLBC | TCGA-G8-6907-01 | exon_skip_371470 | 9874788 | 9874929 | 9874914 | 9874914 | Nonsense_Mutation | C | T | p.R704X |
| DLBC | TCGA-GR-7351-01 | exon_skip_371470 | 9874788 | 9874929 | 9874914 | 9874914 | Nonsense_Mutation | C | T | p.R704X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-G8-6907-01 |
| Cancer type: DLBC | |
| ESID: exon_skip_371470 | |
| Skipped exon start: 9874788 | |
| Skipped exon end: 9874929 | |
| Mutation start: 9874914 | |
| Mutation end: 9874914 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R704X | |
exon_skip_371470_DLBC_TCGA-G8-6907-01.png | |
 | Sample: TCGA-GR-7351-01 |
| Cancer type: DLBC | |
| ESID: exon_skip_371470 | |
| Skipped exon start: 9874788 | |
| Skipped exon end: 9874929 | |
| Mutation start: 9874914 | |
| Mutation end: 9874914 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R704X | |
exon_skip_371470_DLBC_TCGA-GR-7351-01.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 |
| HCC1419_BREAST | 9859329 | 9859443 | 9859427 | 9859428 | Frame_Shift_Ins | - | A | p.K139fs |
| HSC4_UPPER_AERODIGESTIVE_TRACT | 9859329 | 9859443 | 9859427 | 9859428 | Frame_Shift_Ins | - | A | p.K139fs |
| HUPT4_PANCREAS | 9859329 | 9859443 | 9859427 | 9859428 | Frame_Shift_Ins | - | A | p.K139fs |
| KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9859329 | 9859443 | 9859427 | 9859428 | Frame_Shift_Ins | - | A | p.K139fs |
| MDAMB231_BREAST | 9859329 | 9859443 | 9859427 | 9859428 | Frame_Shift_Ins | - | A | p.K139fs |
| MDAPCA2B_PROSTATE | 9859329 | 9859443 | 9859427 | 9859428 | Frame_Shift_Ins | - | A | p.K139fs |
| SNU1076_UPPER_AERODIGESTIVE_TRACT | 9859329 | 9859443 | 9859427 | 9859428 | Frame_Shift_Ins | - | A | p.K139fs |
| IGR1_SKIN | 9859329 | 9859443 | 9859371 | 9859371 | Missense_Mutation | G | A | p.E120K |
| SNUC5_LARGE_INTESTINE | 9859329 | 9859443 | 9859438 | 9859438 | Missense_Mutation | T | C | p.F142S |
| OC316_OVARY | 9860239 | 9860604 | 9860535 | 9860535 | Missense_Mutation | G | A | p.V154I |
| OC316_OVARY | 9860506 | 9860604 | 9860535 | 9860535 | Missense_Mutation | G | A | p.V154I |
| OC314_OVARY | 9860239 | 9860604 | 9860535 | 9860535 | Missense_Mutation | G | A | p.V154I |
| OC314_OVARY | 9860506 | 9860604 | 9860535 | 9860535 | Missense_Mutation | G | A | p.V154I |
| SNU520_STOMACH | 9867484 | 9867632 | 9867524 | 9867524 | Missense_Mutation | C | T | p.R256C |
| HCT15_LARGE_INTESTINE | 9867484 | 9867632 | 9867602 | 9867602 | Missense_Mutation | G | A | p.V282M |
| HCT15_LARGE_INTESTINE | 9867484 | 9867632 | 9867618 | 9867618 | Missense_Mutation | A | G | p.K287R |
| SF539_CENTRAL_NERVOUS_SYSTEM | 9867484 | 9867632 | 9867624 | 9867624 | Missense_Mutation | G | A | p.R289H |
| HCT15_LARGE_INTESTINE | 9874788 | 9874929 | 9874860 | 9874860 | Missense_Mutation | G | T | p.A543S |
| HEC6_ENDOMETRIUM | 9874788 | 9874929 | 9874915 | 9874915 | Missense_Mutation | G | A | p.R561Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TTLL3 |
| 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 |
| exon_skip_371467 | 3 | 9859328:9859443:9860238:9860604:9862229:9862425 | 9860238:9860604 | ENST00000427220.1 | LGG | rs147069178 | chr3:9860274 | G/A | 1.80e-06 |
| exon_skip_371467 | 3 | 9859328:9859443:9860238:9860604:9862229:9862425 | 9860238:9860604 | ENST00000427220.1 | LGG | rs147069178 | chr3:9860274 | G/A | 2.39e-03 |
| exon_skip_371467 | 3 | 9859328:9859443:9860238:9860604:9862229:9862425 | 9860238:9860604 | ENST00000427220.1 | LGG | rs147069178 | chr3:9860274 | G/A | 2.39e-03 |
| exon_skip_371467 | 3 | 9859328:9859443:9860238:9860604:9862229:9862425 | 9860238:9860604 | ENST00000427220.1 | LUAD | rs147069178 | chr3:9860274 | G/A | 2.61e-03 |
| exon_skip_371467 | 3 | 9859328:9859443:9860238:9860604:9862229:9862425 | 9860238:9860604 | ENST00000427220.1 | PRAD | rs147069178 | chr3:9860274 | G/A | 6.77e-04 |
| exon_skip_371465 | 3 | 9854931:9855029:9867483:9867632:9868680:9868924 | 9867483:9867632 | ENST00000430390.1 | KIRP | rs3732527 | chr3:9867625 | C/T | 3.14e-06 |
| exon_skip_371465 | 3 | 9854931:9855029:9867483:9867632:9868680:9868924 | 9867483:9867632 | ENST00000430390.1 | KIRP | rs3732527 | chr3:9867625 | C/T | 3.14e-06 |
| exon_skip_371465 | 3 | 9854931:9855029:9867483:9867632:9868680:9868924 | 9867483:9867632 | ENST00000430390.1 | KIRP | rs3732527 | chr3:9867625 | C/T | 8.54e-05 |
| exon_skip_371465 | 3 | 9854931:9855029:9867483:9867632:9868680:9868924 | 9867483:9867632 | ENST00000430390.1 | LGG | rs3732527 | chr3:9867625 | C/T | 2.39e-16 |
| exon_skip_371465 | 3 | 9854931:9855029:9867483:9867632:9868680:9868924 | 9867483:9867632 | ENST00000430390.1 | LGG | rs3732527 | chr3:9867625 | C/T | 4.75e-05 |
| exon_skip_371465 | 3 | 9854931:9855029:9867483:9867632:9868680:9868924 | 9867483:9867632 | ENST00000430390.1 | LGG | rs3732527 | chr3:9867625 | C/T | 3.90e-04 |
| exon_skip_371465 | 3 | 9854931:9855029:9867483:9867632:9868680:9868924 | 9867483:9867632 | ENST00000430390.1 | LGG | rs3732527 | chr3:9867625 | C/T | 3.90e-04 |
| exon_skip_371465 | 3 | 9854931:9855029:9867483:9867632:9868680:9868924 | 9867483:9867632 | ENST00000430390.1 | LUAD | rs3732527 | chr3:9867625 | C/T | 5.75e-09 |
| exon_skip_371465 | 3 | 9854931:9855029:9867483:9867632:9868680:9868924 | 9867483:9867632 | ENST00000430390.1 | LUAD | rs3732527 | chr3:9867625 | C/T | 2.15e-08 |
| exon_skip_371465 | 3 | 9854931:9855029:9867483:9867632:9868680:9868924 | 9867483:9867632 | ENST00000430390.1 | LUAD | rs3732527 | chr3:9867625 | C/T | 2.26e-06 |
| exon_skip_371465 | 3 | 9854931:9855029:9867483:9867632:9868680:9868924 | 9867483:9867632 | ENST00000430390.1 | LUAD | rs3732527 | chr3:9867625 | C/T | 4.50e-04 |
| exon_skip_371465 | 3 | 9854931:9855029:9867483:9867632:9868680:9868924 | 9867483:9867632 | ENST00000430390.1 | PCPG | rs3732527 | chr3:9867625 | C/T | 4.00e-05 |
| exon_skip_371465 | 3 | 9854931:9855029:9867483:9867632:9868680:9868924 | 9867483:9867632 | ENST00000430390.1 | PRAD | rs3732527 | chr3:9867625 | C/T | 5.79e-06 |
| exon_skip_371465 | 3 | 9854931:9855029:9867483:9867632:9868680:9868924 | 9867483:9867632 | ENST00000430390.1 | PRAD | rs3732527 | chr3:9867625 | C/T | 1.64e-03 |
| exon_skip_371465 | 3 | 9854931:9855029:9867483:9867632:9868680:9868924 | 9867483:9867632 | ENST00000430390.1 | PRAD | rs3732527 | chr3:9867625 | C/T | 1.64e-03 |
| exon_skip_371465 | 3 | 9854931:9855029:9867483:9867632:9868680:9868924 | 9867483:9867632 | ENST00000430390.1 | SARC | rs3732527 | chr3:9867625 | C/T | 2.39e-04 |
| exon_skip_371465 | 3 | 9854931:9855029:9867483:9867632:9868680:9868924 | 9867483:9867632 | ENST00000430390.1 | SARC | rs3732527 | chr3:9867625 | C/T | 4.20e-04 |
| exon_skip_371465 | 3 | 9854931:9855029:9867483:9867632:9868680:9868924 | 9867483:9867632 | ENST00000430390.1 | SARC | rs3732527 | chr3:9867625 | C/T | 4.21e-04 |
| exon_skip_371465 | 3 | 9854931:9855029:9867483:9867632:9868680:9868924 | 9867483:9867632 | ENST00000430390.1 | THCA | rs3732527 | chr3:9867625 | C/T | 1.13e-15 |
| exon_skip_371465 | 3 | 9854931:9855029:9867483:9867632:9868680:9868924 | 9867483:9867632 | ENST00000430390.1 | THCA | rs3732527 | chr3:9867625 | C/T | 3.24e-09 |
| exon_skip_371465 | 3 | 9854931:9855029:9867483:9867632:9868680:9868924 | 9867483:9867632 | ENST00000430390.1 | THCA | rs3732527 | chr3:9867625 | C/T | 3.25e-09 |
| exon_skip_371465 | 3 | 9854931:9855029:9867483:9867632:9868680:9868924 | 9867483:9867632 | ENST00000430390.1 | THCA | rs3732527 | chr3:9867625 | C/T | 2.36e-07 |
| exon_skip_371465 | 3 | 9854931:9855029:9867483:9867632:9868680:9868924 | 9867483:9867632 | ENST00000430390.1 | THCA | rs3732527 | chr3:9867625 | C/T | 3.43e-06 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TTLL3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TTLL3 |
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RelatedDrugs for TTLL3 |
| 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 |
| Q9Y4R7 | DB00277 | Theophylline | Tubulin monoglycylase TTLL3 | small molecule | approved |
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RelatedDiseases for TTLL3 |
| 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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