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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 TTYH2 |
 Gene summary |
| Gene information | Gene symbol | TTYH2 | Gene ID | 94015 |
| Gene name | tweety family member 2 | |
| Synonyms | C17orf29 | |
| Cytomap | 17q25.1 | |
| Type of gene | protein-coding | |
| Description | protein tweety homolog 2hTTY2tweety homolog 2 | |
| 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 TTYH2 |
| 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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ENSG00000141540
| 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 |
| PG | UP | ENST00000441391.6 | TTYH2-202:protein_coding:TTYH2 | 1.990112e+02 | 8.552765e-01 | 2.866103e-09 | 9.582926e-07 |
| 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 TTYH2 |
| 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_128556 | chr17 | 74222644:74222657:74230888:74230999:74237294:74237514 | 74230888:74230999 |
| exon_skip_168872 | chr17 | 74250269:74250357:74251869:74252014:74252234:74252288 | 74251869:74252014 |
| exon_skip_17074 | chr17 | 74230888:74230999:74237294:74237514:74243374:74243469 | 74237294:74237514 |
| exon_skip_173777 | chr17 | 74243374:74243469:74243977:74244049:74249011:74249080 | 74243977:74244049 |
| exon_skip_193409 | chr17 | 74243977:74244049:74249011:74249080:74249344:74249399 | 74249011:74249080 |
| exon_skip_209565 | chr17 | 74252234:74252376:74253081:74253266:74253755:74253833 | 74253081:74253266 |
| exon_skip_244894 | chr17 | 74249365:74249399:74249936:74250028:74250265:74250357 | 74249936:74250028 |
| exon_skip_5096 | chr17 | 74250265:74250357:74251869:74252014:74252234:74252288 | 74251869:74252014 |
| exon_skip_78696 | chr17 | 74250269:74250357:74251869:74252014:74252234:74252274 | 74251869:74252014 |
| 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 TTYH2 |
| 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 |
| ENST00000269346 | 74230888 | 74230999 | Frame-shift |
| ENST00000269346 | 74237294 | 74237514 | Frame-shift |
| ENST00000269346 | 74243977 | 74244049 | Frame-shift |
| ENST00000269346 | 74249936 | 74250028 | In-frame |
| ENST00000269346 | 74253081 | 74253266 | 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 |
| ENST00000269346 | 74243977 | 74244049 | Frame-shift |
| ENST00000269346 | 74249936 | 74250028 | In-frame |
| ENST00000269346 | 74253081 | 74253266 | 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 |
| ENST00000269346 | 74230888 | 74230999 | Frame-shift |
| ENST00000269346 | 74237294 | 74237514 | Frame-shift |
| ENST00000269346 | 74243977 | 74244049 | Frame-shift |
| ENST00000269346 | 74249011 | 74249080 | Frame-shift |
| ENST00000269346 | 74249936 | 74250028 | In-frame |
| ENST00000269346 | 74253081 | 74253266 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TTYH2 |
p-ENSG00000141540_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 |
| ENST00000269346 | 3507 | 534 | 74249936 | 74250028 | 1006 | 1097 | 310 | 341 |
| ENST00000269346 | 3507 | 534 | 74253081 | 74253266 | 1335 | 1519 | 420 | 481 |
| 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 |
| ENST00000269346 | 3507 | 534 | 74249936 | 74250028 | 1006 | 1097 | 310 | 341 |
| ENST00000269346 | 3507 | 534 | 74253081 | 74253266 | 1335 | 1519 | 420 | 481 |
| 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 |
| ENST00000269346 | 3507 | 534 | 74249936 | 74250028 | 1006 | 1097 | 310 | 341 |
| ENST00000269346 | 3507 | 534 | 74253081 | 74253266 | 1335 | 1519 | 420 | 481 |
| 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 |
| Q9BSA4 | 310 | 341 | 1 | 321 | Alternative sequence | ID=VSP_040567;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9BSA4 | 310 | 341 | 1 | 534 | Chain | ID=PRO_0000312246;Note=Protein tweety homolog 2 |
| Q9BSA4 | 310 | 341 | 262 | 388 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BSA4 | 420 | 481 | 1 | 534 | Chain | ID=PRO_0000312246;Note=Protein tweety homolog 2 |
| Q9BSA4 | 420 | 481 | 423 | 431 | Compositional bias | Note=Poly-Asp |
| Q9BSA4 | 420 | 481 | 423 | 423 | Natural variant | ID=VAR_037465;Note=D->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs9899862,PMID:14702039,PMID:15489334 |
| Q9BSA4 | 420 | 481 | 410 | 534 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9BSA4 | 310 | 341 | 1 | 321 | Alternative sequence | ID=VSP_040567;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9BSA4 | 310 | 341 | 1 | 534 | Chain | ID=PRO_0000312246;Note=Protein tweety homolog 2 |
| Q9BSA4 | 310 | 341 | 262 | 388 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BSA4 | 420 | 481 | 1 | 534 | Chain | ID=PRO_0000312246;Note=Protein tweety homolog 2 |
| Q9BSA4 | 420 | 481 | 423 | 431 | Compositional bias | Note=Poly-Asp |
| Q9BSA4 | 420 | 481 | 423 | 423 | Natural variant | ID=VAR_037465;Note=D->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs9899862,PMID:14702039,PMID:15489334 |
| Q9BSA4 | 420 | 481 | 410 | 534 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9BSA4 | 310 | 341 | 1 | 321 | Alternative sequence | ID=VSP_040567;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9BSA4 | 310 | 341 | 1 | 534 | Chain | ID=PRO_0000312246;Note=Protein tweety homolog 2 |
| Q9BSA4 | 310 | 341 | 262 | 388 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BSA4 | 420 | 481 | 1 | 534 | Chain | ID=PRO_0000312246;Note=Protein tweety homolog 2 |
| Q9BSA4 | 420 | 481 | 423 | 431 | Compositional bias | Note=Poly-Asp |
| Q9BSA4 | 420 | 481 | 423 | 423 | Natural variant | ID=VAR_037465;Note=D->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs9899862,PMID:14702039,PMID:15489334 |
| Q9BSA4 | 420 | 481 | 410 | 534 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in TTYH2 |
| 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 |
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SNVs in the skipped exons for TTYH2 |
| - 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 TTYH2 |
| 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 TTYH2 |
| 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 TTYH2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for TTYH2 |
| 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 TTYH2 |
| 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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