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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for TTLL9 |
 Gene summary |
| Gene information | Gene symbol | TTLL9 | Gene ID | 164395 |
| Gene name | tubulin tyrosine ligase like 9 | |
| Synonyms | C20orf125 | |
| Cytomap | 20q11.21 | |
| Type of gene | protein-coding | |
| Description | probable tubulin polyglutamylase TTLL9tubulin tyrosine ligase-like family, member 9tubulin--tyrosine ligase-like protein 9 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| 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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Gene structures and expression levels for TTLL9 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000131044
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | DOWN | ENST00000642230.1 | TTLL9-212:nonsense_mediated_decay:TTLL9 | 7.055458e+00 | -1.988737e+00 | 1.900367e-06 | 2.589253e-05 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for TTLL9 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_104790 | chr20 | 31937396:31937509:31939142:31939266:31942945:31943007 | 31939142:31939266 |
| exon_skip_110737 | chr20 | 31879817:31879897:31884021:31884102:31887196:31887239 | 31884021:31884102 |
| exon_skip_110957 | chr20 | 31937396:31937509:31939142:31939266:31942945:31943055 | 31939142:31939266 |
| exon_skip_113708 | chr20 | 31937470:31937509:31938182:31938263:31939142:31939266 | 31938182:31938263 |
| exon_skip_148523 | chr20 | 31937470:31937509:31939142:31939266:31942945:31943007 | 31939142:31939266 |
| exon_skip_169979 | chr20 | 31870818:31870949:31871122:31871195:31884021:31884102 | 31871122:31871195 |
| exon_skip_173444 | chr20 | 31909737:31909922:31919864:31919932:31922963:31923053 | 31919864:31919932 |
| exon_skip_18068 | chr20 | 31871127:31871195:31884021:31884102:31887196:31887239 | 31884021:31884102 |
| exon_skip_183877 | chr20 | 31871127:31871195:31887196:31887239:31898473:31898565 | 31887196:31887239 |
| exon_skip_189455 | chr20 | 31937396:31937509:31938159:31938263:31939142:31939266 | 31938159:31938263 |
| exon_skip_204672 | chr20 | 31942945:31943055:31943766:31943845:31944026:31944199 | 31943766:31943845 |
| exon_skip_216832 | chr20 | 31937470:31937509:31938159:31938263:31939142:31939266 | 31938159:31938263 |
| exon_skip_219632 | chr20 | 31933800:31933858:31934692:31934888:31937396:31937509 | 31934692:31934888 |
| exon_skip_220291 | chr20 | 31925009:31925049:31925873:31925960:31933800:31933858 | 31925873:31925960 |
| exon_skip_234387 | chr20 | 31937396:31937509:31938182:31938263:31939142:31939266 | 31938182:31938263 |
| exon_skip_296687 | chr20 | 31909737:31909922:31922963:31923053:31925009:31925049 | 31922963:31923053 |
| exon_skip_45461 | chr20 | 31879848:31879897:31887196:31887239:31898473:31898565 | 31887196:31887239 |
| exon_skip_4738 | chr20 | 31870818:31870949:31879556:31879897:31887196:31887239 | 31879556:31879897 |
| exon_skip_76677 | chr20 | 31870759:31870953:31887196:31887239:31898473:31898565 | 31887196:31887239 |
| exon_skip_85134 | chr20 | 31870759:31870953:31871122:31871195:31884021:31884102 | 31871122:31871195 |
| exon_skip_9823 | chr20 | 31919864:31919932:31922963:31923053:31925009:31925049 | 31922963:31923053 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for TTLL9 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000375938 | 31887196 | 31887239 | Frame-shift |
| ENST00000535842 | 31887196 | 31887239 | Frame-shift |
| ENST00000375938 | 31922963 | 31923053 | Frame-shift |
| ENST00000535842 | 31922963 | 31923053 | Frame-shift |
| ENST00000375938 | 31934692 | 31934888 | Frame-shift |
| ENST00000535842 | 31934692 | 31934888 | Frame-shift |
| ENST00000375938 | 31939142 | 31939266 | Frame-shift |
| ENST00000535842 | 31939142 | 31939266 | Frame-shift |
| ENST00000375938 | 31919864 | 31919932 | In-frame |
| ENST00000535842 | 31919864 | 31919932 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000375938 | 31934692 | 31934888 | Frame-shift |
| ENST00000535842 | 31934692 | 31934888 | Frame-shift |
| ENST00000375938 | 31939142 | 31939266 | Frame-shift |
| ENST00000535842 | 31939142 | 31939266 | Frame-shift |
| ENST00000375938 | 31919864 | 31919932 | In-frame |
| ENST00000535842 | 31919864 | 31919932 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000375938 | 31943766 | 31943845 | 3UTR-3UTR |
| ENST00000375938 | 31887196 | 31887239 | Frame-shift |
| ENST00000535842 | 31887196 | 31887239 | Frame-shift |
| ENST00000375938 | 31922963 | 31923053 | Frame-shift |
| ENST00000535842 | 31922963 | 31923053 | Frame-shift |
| ENST00000375938 | 31934692 | 31934888 | Frame-shift |
| ENST00000535842 | 31934692 | 31934888 | Frame-shift |
| ENST00000375938 | 31939142 | 31939266 | Frame-shift |
| ENST00000535842 | 31939142 | 31939266 | Frame-shift |
| ENST00000375938 | 31919864 | 31919932 | In-frame |
| ENST00000535842 | 31919864 | 31919932 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TTLL9 |
p-ENSG00000131044_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000375938 | 2640 | 439 | 31919864 | 31919932 | 759 | 826 | 168 | 191 |
| ENST00000535842 | 3278 | 439 | 31919864 | 31919932 | 506 | 573 | 168 | 191 |
| Loci of skipped exons in MSBB 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 |
| ENST00000375938 | 2640 | 439 | 31919864 | 31919932 | 759 | 826 | 168 | 191 |
| ENST00000535842 | 3278 | 439 | 31919864 | 31919932 | 506 | 573 | 168 | 191 |
| Loci of skipped exons in Mayo 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 |
| ENST00000375938 | 2640 | 439 | 31919864 | 31919932 | 759 | 826 | 168 | 191 |
| ENST00000535842 | 3278 | 439 | 31919864 | 31919932 | 506 | 573 | 168 | 191 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| Q3SXZ7 | 168 | 191 | 169 | 191 | Alternative sequence | ID=VSP_035766;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q3SXZ7 | 168 | 191 | 169 | 191 | Alternative sequence | ID=VSP_035766;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q3SXZ7 | 168 | 191 | 1 | 439 | Chain | ID=PRO_0000324517;Note=Probable tubulin polyglutamylase TTLL9 |
| Q3SXZ7 | 168 | 191 | 1 | 439 | Chain | ID=PRO_0000324517;Note=Probable tubulin polyglutamylase TTLL9 |
| Q3SXZ7 | 168 | 191 | 40 | 380 | Domain | Note=TTL;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00568 |
| Q3SXZ7 | 168 | 191 | 40 | 380 | Domain | Note=TTL;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00568 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| Q3SXZ7 | 168 | 191 | 169 | 191 | Alternative sequence | ID=VSP_035766;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q3SXZ7 | 168 | 191 | 169 | 191 | Alternative sequence | ID=VSP_035766;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q3SXZ7 | 168 | 191 | 1 | 439 | Chain | ID=PRO_0000324517;Note=Probable tubulin polyglutamylase TTLL9 |
| Q3SXZ7 | 168 | 191 | 1 | 439 | Chain | ID=PRO_0000324517;Note=Probable tubulin polyglutamylase TTLL9 |
| Q3SXZ7 | 168 | 191 | 40 | 380 | Domain | Note=TTL;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00568 |
| Q3SXZ7 | 168 | 191 | 40 | 380 | Domain | Note=TTL;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00568 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| Q3SXZ7 | 168 | 191 | 169 | 191 | Alternative sequence | ID=VSP_035766;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q3SXZ7 | 168 | 191 | 169 | 191 | Alternative sequence | ID=VSP_035766;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q3SXZ7 | 168 | 191 | 1 | 439 | Chain | ID=PRO_0000324517;Note=Probable tubulin polyglutamylase TTLL9 |
| Q3SXZ7 | 168 | 191 | 1 | 439 | Chain | ID=PRO_0000324517;Note=Probable tubulin polyglutamylase TTLL9 |
| Q3SXZ7 | 168 | 191 | 40 | 380 | Domain | Note=TTL;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00568 |
| Q3SXZ7 | 168 | 191 | 40 | 380 | Domain | Note=TTL;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00568 |
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3'-UTR located exon skipping events that lost miRNA binding sites in TTLL9 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
| Mayo | ENST00000375938 | 31943766 | 31943845 | hsa-miR-6736-3p | chr20:31943784-31943791 | 8mer-1a | chr20:31943775-31943797 | 154.00 | -22.05 |
| Mayo | ENST00000375938 | 31943766 | 31943845 | hsa-miR-24-3p | chr20:31943788-31943795 | 8mer-1a | chr20:31943775-31943797 | 154.00 | -22.05 |
| Mayo | ENST00000375938 | 31943766 | 31943845 | hsa-miR-149-5p | chr20:31943790-31943797 | 8mer-1a | chr20:31943775-31943797 | 154.00 | -22.05 |
| Mayo | ENST00000375938 | 31943766 | 31943845 | hsa-miR-4641 | chr20:31943817-31943824 | 8mer-1a | chr20:31943798-31943824 | 151.00 | -20.66 |
| Mayo | ENST00000375938 | 31943766 | 31943845 | hsa-miR-4664-3p | chr20:31943799-31943806 | 8mer-1a | chr20:31943791-31943815 | 149.00 | -24.43 |
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SNVs in the skipped exons for TTLL9 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for TTLL9 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TTLL9 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for TTLL9 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for TTLL9 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for TTLL9 |
| 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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