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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for TTC37 |
Gene summary |
Gene information | Gene symbol | TTC37 | Gene ID | 9652 |
Gene name | tetratricopeptide repeat domain 37 | |
Synonyms | KIAA0372|Ski3|THES | |
Cytomap | 5q15 | |
Type of gene | protein-coding | |
Description | tetratricopeptide repeat protein 37SKI3 homologTPR repeat protein 37thespintricho-hepatic-enteric syndrome protein | |
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 TTC37 |
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. |
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. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
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 TTC37 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_106333 | chr5 | 95530089:95530229:95536817:95536925:95537043:95537107 | 95536817:95536925 |
exon_skip_107178 | chr5 | 95516526:95516586:95516672:95516750:95516916:95517060 | 95516672:95516750 |
exon_skip_115369 | chr5 | 95517146:95517322:95520716:95520818:95522054:95522086 | 95520716:95520818 |
exon_skip_116812 | chr5 | 95525587:95525673:95528013:95528152:95529001:95529102 | 95528013:95528152 |
exon_skip_151609 | chr5 | 95509594:95509687:95512477:95512618:95513571:95513645 | 95512477:95512618 |
exon_skip_152862 | chr5 | 95541855:95541906:95543184:95543327:95547061:95547151 | 95543184:95543327 |
exon_skip_158973 | chr5 | 95506977:95507011:95509594:95509687:95512477:95512618 | 95509594:95509687 |
exon_skip_227834 | chr5 | 95502903:95503003:95503814:95503938:95506934:95506992 | 95503814:95503938 |
exon_skip_229601 | chr5 | 95547066:95547151:95548560:95548715:95550581:95550650 | 95548560:95548715 |
exon_skip_33687 | chr5 | 95516525:95516586:95516672:95516750:95516916:95517060 | 95516672:95516750 |
exon_skip_65960 | chr5 | 95482594:95482631:95484724:95484845:95490908:95491036 | 95484724:95484845 |
exon_skip_80578 | chr5 | 95514855:95514923:95516353:95516409:95516525:95516586 | 95516353:95516409 |
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 |
exon_skip_33687 | Mayo_CB | 4.416049e-01 | 6.203077e-01 | -1.787028e-01 | 2.691550e-08 |
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Open reading frame (ORF) annotation in the exon skipping event for TTC37 |
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 |
ENST00000358746 | 95503814 | 95503938 | Frame-shift |
ENST00000358746 | 95512477 | 95512618 | Frame-shift |
ENST00000358746 | 95516672 | 95516750 | Frame-shift |
ENST00000358746 | 95520716 | 95520818 | Frame-shift |
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 |
ENST00000358746 | 95503814 | 95503938 | Frame-shift |
ENST00000358746 | 95512477 | 95512618 | Frame-shift |
ENST00000358746 | 95516672 | 95516750 | Frame-shift |
ENST00000358746 | 95520716 | 95520818 | Frame-shift |
ENST00000358746 | 95536817 | 95536925 | Frame-shift |
ENST00000358746 | 95543184 | 95543327 | 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 |
ENST00000358746 | 95548560 | 95548715 | 3UTR-3UTR |
ENST00000358746 | 95484724 | 95484845 | Frame-shift |
ENST00000358746 | 95503814 | 95503938 | Frame-shift |
ENST00000358746 | 95509594 | 95509687 | Frame-shift |
ENST00000358746 | 95512477 | 95512618 | Frame-shift |
ENST00000358746 | 95516672 | 95516750 | Frame-shift |
ENST00000358746 | 95520716 | 95520818 | Frame-shift |
ENST00000358746 | 95528013 | 95528152 | Frame-shift |
ENST00000358746 | 95536817 | 95536925 | Frame-shift |
ENST00000358746 | 95516353 | 95516409 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TTC37 |
p-ENSG00000198677_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 |
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 |
ENST00000358746 | 5723 | 1564 | 95543184 | 95543327 | 390 | 532 | 30 | 77 |
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 |
ENST00000358746 | 5723 | 1564 | 95516353 | 95516409 | 2877 | 2932 | 859 | 877 |
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 |
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 |
Q6PGP7 | 30 | 77 | 2 | 1564 | Chain | ID=PRO_0000251722;Note=Tetratricopeptide repeat protein 37 |
Q6PGP7 | 30 | 77 | 6 | 39 | Repeat | Note=TPR 1 |
Q6PGP7 | 30 | 77 | 40 | 73 | Repeat | Note=TPR 2 |
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 |
Q6PGP7 | 859 | 877 | 2 | 1564 | Chain | ID=PRO_0000251722;Note=Tetratricopeptide repeat protein 37 |
Q6PGP7 | 859 | 877 | 860 | 878 | Natural variant | ID=VAR_065297;Note=Found in a THES1 patient. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120949;Dbxref=PMID:21120949 |
Q6PGP7 | 859 | 877 | 826 | 860 | Repeat | Note=TPR 14 |
Q6PGP7 | 859 | 877 | 861 | 894 | Repeat | Note=TPR 15 |
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3'-UTR located exon skipping events that lost miRNA binding sites in TTC37 |
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 | ENST00000358746 | 95548560 | 95548715 | hsa-miR-552-5p | chr5:95548695-95548702 | 8mer-1a | chr5:95548691-95548715 | 146.00 | -17.60 |
Mayo | ENST00000358746 | 95548560 | 95548715 | hsa-miR-4310 | chr5:95548657-95548664 | 8mer-1a | chr5:95548639-95548664 | 149.00 | -15.58 |
Mayo | ENST00000358746 | 95548560 | 95548715 | hsa-miR-10394-5p | chr5:95548708-95548715 | 8mer-1a | chr5:95548696-95548715 | 170.00 | -25.51 |
Mayo | ENST00000358746 | 95548560 | 95548715 | hsa-miR-7157-5p | chr5:95548657-95548664 | 8mer-1a | chr5:95548639-95548664 | 149.00 | -15.58 |
Mayo | ENST00000358746 | 95548560 | 95548715 | hsa-miR-3145-5p | chr5:95548636-95548643 | 8mer-1a | chr5:95548631-95548652 | 140.00 | -18.65 |
Mayo | ENST00000358746 | 95548560 | 95548715 | hsa-miR-1205 | chr5:95548708-95548715 | 8mer-1a | chr5:95548696-95548715 | 170.00 | -25.51 |
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SNVs in the skipped exons for TTC37 |
- 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 TTC37 |
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 TTC37 |
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 TTC37 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | PABPN1 | exon_skip_227834 | -4.382043e-01 | 8.496467e-09 |
CB | RBM6 | exon_skip_227834 | -5.013647e-01 | 1.948452e-11 |
CB | PCBP1 | exon_skip_227834 | -5.133972e-01 | 5.282079e-12 |
CB | TRA2A | exon_skip_227834 | -6.165912e-01 | 6.408683e-18 |
CB | FUBP1 | exon_skip_227834 | -5.194355e-01 | 2.690598e-12 |
CB | NUP42 | exon_skip_227834 | 4.469652e-01 | 3.930404e-09 |
CB | TARDBP | exon_skip_151609 | -4.325786e-01 | 1.533180e-08 |
CB | ELAVL1 | exon_skip_151609 | -4.088580e-01 | 1.059220e-07 |
CB | CNOT4 | exon_skip_151609 | -4.811150e-01 | 1.793567e-10 |
CB | RBM3 | exon_skip_151609 | 4.869726e-01 | 9.987423e-11 |
CB | FUBP1 | exon_skip_151609 | -4.416006e-01 | 7.063197e-09 |
CB | HNRNPAB | exon_skip_151609 | -4.075588e-01 | 1.172502e-07 |
CB | TRA2A | exon_skip_33687 | -6.081322e-01 | 3.929089e-16 |
CB | SRSF4 | exon_skip_33687 | -5.022808e-01 | 1.050997e-10 |
CB | TARDBP | exon_skip_115369 | -5.524691e-01 | 2.312113e-13 |
CB | MATR3 | exon_skip_115369 | -4.048906e-01 | 2.759004e-07 |
CB | TRA2A | exon_skip_115369 | -6.355671e-01 | 2.398278e-18 |
CB | FUBP1 | exon_skip_115369 | -5.595857e-01 | 9.783599e-14 |
CB | NUP42 | exon_skip_115369 | 4.667939e-01 | 1.732447e-09 |
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RelatedDrugs for TTC37 |
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 TTC37 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |