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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 CNTN5 |
 Gene summary |
| Gene information | Gene symbol | CNTN5 | Gene ID | 53942 |
| Gene name | contactin 5 | |
| Synonyms | HNB-2s|NB-2 | |
| Cytomap | 11q22.1 | |
| Type of gene | protein-coding | |
| Description | contactin-5neural adhesion moleculeneural recognition molecule NB-2 | |
| Modification date | 20200329 | |
| UniProtAcc | ||
| Context | - 20558387(Genetic Variation and Neuroimaging Measures in Alzheimer Disease) |
| 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 CNTN5 |
| 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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ENSG00000149972
| 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 | UP | ENST00000524871.6 | CNTN5-204:protein_coding:CNTN5 | 2.110132e+01 | 1.098114e+00 | 5.966994e-03 | 2.276790e-02 |
| 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 CNTN5 |
| 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_101562 | chr11 | 100002034:100002136:100061212:100061393:100070424:100070560 | 100061212:100061393 |
| exon_skip_106001 | chr11 | 99556146:99556269:99819544:99819765:99844852:99844975 | 99819544:99819765 |
| exon_skip_141819 | chr11 | 99845087:99845262:99916054:99916149:99956806:99957009 | 99916054:99916149 |
| exon_skip_248490 | chr11 | 99916054:99916149:99956806:99957009:100002034:100002136 | 99956806:99957009 |
| exon_skip_60486 | chr11 | 100193488:100193663:100224692:100224812:100255760:100255918 | 100224692:100224812 |
| 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 CNTN5 |
| 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 |
| ENST00000524871 | 100224692 | 100224812 | Frame-shift |
| ENST00000528682 | 100224692 | 100224812 | Frame-shift |
| ENST00000524871 | 99819544 | 99819765 | In-frame |
| ENST00000528682 | 99819544 | 99819765 | In-frame |
| ENST00000524871 | 99956806 | 99957009 | In-frame |
| ENST00000528682 | 99956806 | 99957009 | 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 |
| ENST00000524871 | 100061212 | 100061393 | Frame-shift |
| ENST00000528682 | 100061212 | 100061393 | Frame-shift |
| ENST00000524871 | 100224692 | 100224812 | Frame-shift |
| ENST00000528682 | 100224692 | 100224812 | Frame-shift |
| ENST00000524871 | 99819544 | 99819765 | In-frame |
| ENST00000528682 | 99819544 | 99819765 | In-frame |
| ENST00000524871 | 99916054 | 99916149 | In-frame |
| ENST00000528682 | 99916054 | 99916149 | 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 |
| ENST00000524871 | 100224692 | 100224812 | Frame-shift |
| ENST00000528682 | 100224692 | 100224812 | Frame-shift |
| ENST00000524871 | 99819544 | 99819765 | In-frame |
| ENST00000528682 | 99819544 | 99819765 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CNTN5 |
p-ENSG00000149972_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 |
| ENST00000524871 | 6275 | 1100 | 99819544 | 99819765 | 347 | 567 | 19 | 92 |
| ENST00000528682 | 3817 | 1100 | 99819544 | 99819765 | 208 | 428 | 19 | 92 |
| ENST00000524871 | 6275 | 1100 | 99956806 | 99957009 | 965 | 1167 | 225 | 292 |
| ENST00000528682 | 3817 | 1100 | 99956806 | 99957009 | 826 | 1028 | 225 | 292 |
| 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 |
| ENST00000524871 | 6275 | 1100 | 99819544 | 99819765 | 347 | 567 | 19 | 92 |
| ENST00000528682 | 3817 | 1100 | 99819544 | 99819765 | 208 | 428 | 19 | 92 |
| ENST00000524871 | 6275 | 1100 | 99916054 | 99916149 | 869 | 963 | 193 | 224 |
| ENST00000528682 | 3817 | 1100 | 99916054 | 99916149 | 730 | 824 | 193 | 224 |
| 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 |
| ENST00000524871 | 6275 | 1100 | 99819544 | 99819765 | 347 | 567 | 19 | 92 |
| ENST00000528682 | 3817 | 1100 | 99819544 | 99819765 | 208 | 428 | 19 | 92 |
| 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 |
| O94779 | 19 | 92 | 19 | 92 | Alternative sequence | ID=VSP_011967;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11013081;Dbxref=PMID:11013081 |
| O94779 | 19 | 92 | 19 | 92 | Alternative sequence | ID=VSP_011967;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11013081;Dbxref=PMID:11013081 |
| O94779 | 19 | 92 | 19 | 1072 | Chain | ID=PRO_0000014717;Note=Contactin-5 |
| O94779 | 19 | 92 | 19 | 1072 | Chain | ID=PRO_0000014717;Note=Contactin-5 |
| O94779 | 19 | 92 | 23 | 23 | Natural variant | ID=VAR_019907;Note=S->A;Dbxref=dbSNP:rs10790978 |
| O94779 | 19 | 92 | 23 | 23 | Natural variant | ID=VAR_019907;Note=S->A;Dbxref=dbSNP:rs10790978 |
| O94779 | 19 | 92 | 70 | 70 | Natural variant | ID=VAR_019908;Note=L->R;Dbxref=dbSNP:rs7125822 |
| O94779 | 19 | 92 | 70 | 70 | Natural variant | ID=VAR_019908;Note=L->R;Dbxref=dbSNP:rs7125822 |
| O94779 | 19 | 92 | 81 | 81 | Natural variant | ID=VAR_019909;Note=N->S;Dbxref=dbSNP:rs10893933 |
| O94779 | 19 | 92 | 81 | 81 | Natural variant | ID=VAR_019909;Note=N->S;Dbxref=dbSNP:rs10893933 |
| O94779 | 225 | 292 | 19 | 1072 | Chain | ID=PRO_0000014717;Note=Contactin-5 |
| O94779 | 225 | 292 | 19 | 1072 | Chain | ID=PRO_0000014717;Note=Contactin-5 |
| O94779 | 225 | 292 | 217 | 269 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| O94779 | 225 | 292 | 217 | 269 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| O94779 | 225 | 292 | 196 | 282 | Domain | Note=Ig-like C2-type 2 |
| O94779 | 225 | 292 | 196 | 282 | Domain | Note=Ig-like C2-type 2 |
| 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 |
| O94779 | 19 | 92 | 19 | 92 | Alternative sequence | ID=VSP_011967;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11013081;Dbxref=PMID:11013081 |
| O94779 | 19 | 92 | 19 | 92 | Alternative sequence | ID=VSP_011967;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11013081;Dbxref=PMID:11013081 |
| O94779 | 19 | 92 | 19 | 1072 | Chain | ID=PRO_0000014717;Note=Contactin-5 |
| O94779 | 19 | 92 | 19 | 1072 | Chain | ID=PRO_0000014717;Note=Contactin-5 |
| O94779 | 19 | 92 | 23 | 23 | Natural variant | ID=VAR_019907;Note=S->A;Dbxref=dbSNP:rs10790978 |
| O94779 | 19 | 92 | 23 | 23 | Natural variant | ID=VAR_019907;Note=S->A;Dbxref=dbSNP:rs10790978 |
| O94779 | 19 | 92 | 70 | 70 | Natural variant | ID=VAR_019908;Note=L->R;Dbxref=dbSNP:rs7125822 |
| O94779 | 19 | 92 | 70 | 70 | Natural variant | ID=VAR_019908;Note=L->R;Dbxref=dbSNP:rs7125822 |
| O94779 | 19 | 92 | 81 | 81 | Natural variant | ID=VAR_019909;Note=N->S;Dbxref=dbSNP:rs10893933 |
| O94779 | 19 | 92 | 81 | 81 | Natural variant | ID=VAR_019909;Note=N->S;Dbxref=dbSNP:rs10893933 |
| O94779 | 193 | 224 | 19 | 1072 | Chain | ID=PRO_0000014717;Note=Contactin-5 |
| O94779 | 193 | 224 | 19 | 1072 | Chain | ID=PRO_0000014717;Note=Contactin-5 |
| O94779 | 193 | 224 | 217 | 269 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| O94779 | 193 | 224 | 217 | 269 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| O94779 | 193 | 224 | 196 | 282 | Domain | Note=Ig-like C2-type 2 |
| O94779 | 193 | 224 | 196 | 282 | Domain | Note=Ig-like C2-type 2 |
| O94779 | 193 | 224 | 196 | 196 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O94779 | 193 | 224 | 196 | 196 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;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 |
| O94779 | 19 | 92 | 19 | 92 | Alternative sequence | ID=VSP_011967;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11013081;Dbxref=PMID:11013081 |
| O94779 | 19 | 92 | 19 | 92 | Alternative sequence | ID=VSP_011967;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11013081;Dbxref=PMID:11013081 |
| O94779 | 19 | 92 | 19 | 1072 | Chain | ID=PRO_0000014717;Note=Contactin-5 |
| O94779 | 19 | 92 | 19 | 1072 | Chain | ID=PRO_0000014717;Note=Contactin-5 |
| O94779 | 19 | 92 | 23 | 23 | Natural variant | ID=VAR_019907;Note=S->A;Dbxref=dbSNP:rs10790978 |
| O94779 | 19 | 92 | 23 | 23 | Natural variant | ID=VAR_019907;Note=S->A;Dbxref=dbSNP:rs10790978 |
| O94779 | 19 | 92 | 70 | 70 | Natural variant | ID=VAR_019908;Note=L->R;Dbxref=dbSNP:rs7125822 |
| O94779 | 19 | 92 | 70 | 70 | Natural variant | ID=VAR_019908;Note=L->R;Dbxref=dbSNP:rs7125822 |
| O94779 | 19 | 92 | 81 | 81 | Natural variant | ID=VAR_019909;Note=N->S;Dbxref=dbSNP:rs10893933 |
| O94779 | 19 | 92 | 81 | 81 | Natural variant | ID=VAR_019909;Note=N->S;Dbxref=dbSNP:rs10893933 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CNTN5 |
| 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 CNTN5 |
| - 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 CNTN5 |
| 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 CNTN5 |
| 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 CNTN5 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for CNTN5 |
| 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 CNTN5 |
| 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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