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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 COL24A1 |
 Gene summary |
| Gene information | Gene symbol | COL24A1 | Gene ID | 255631 |
| Gene name | collagen type XXIV alpha 1 chain | |
| Synonyms | - | |
| Cytomap | 1p22.3 | |
| Type of gene | protein-coding | |
| Description | collagen alpha-1(XXIV) chaincollagen, type XXIV, alpha 1 | |
| 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 COL24A1 |
| 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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ENSG00000171502
| 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 COL24A1 |
| 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_132387 | chr1 | 85823685:85823738:85838585:85838638:85841222:85841278 | 85838585:85838638 |
| exon_skip_156287 | chr1 | 85730082:85730692:85734749:85734964:85737396:85737505 | 85734749:85734964 |
| exon_skip_159968 | chr1 | 86126092:86126214:86146119:86146183:86156341:86156471 | 86146119:86146183 |
| exon_skip_183332 | chr1 | 86115325:86115378:86124845:86126214:86146119:86146183 | 86124845:86126214 |
| exon_skip_196071 | chr1 | 86089174:86089227:86092267:86092320:86112567:86112620 | 86092267:86092320 |
| exon_skip_210859 | chr1 | 85911380:85911433:85960758:85960880:85961249:85961293 | 85960758:85960880 |
| exon_skip_217921 | chr1 | 85911380:85911433:85961249:85961293:85965009:85965062 | 85961249:85961293 |
| exon_skip_283845 | chr1 | 85987601:85987654:86017151:86017204:86022240:86022293 | 86017151:86017204 |
| exon_skip_30246 | chr1 | 85971340:85971393:85987601:85987654:86017151:86017204 | 85987601:85987654 |
| exon_skip_38481 | chr1 | 85896356:85896409:85907194:85907247:85908598:85908651 | 85907194:85907247 |
| exon_skip_68375 | chr1 | 85761531:85761566:85775674:85775709:85781220:85781273 | 85775674:85775709 |
| exon_skip_96330 | chr1 | 85784259:85784366:85786354:85786461:85816788:85816895 | 85786354:85786461 |
| 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 COL24A1 |
| 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 |
| ENST00000370571 | 86124845 | 86126214 | Frame-shift |
| ENST00000370571 | 85734749 | 85734964 | In-frame |
| ENST00000370571 | 85775674 | 85775709 | In-frame |
| ENST00000370571 | 85786354 | 85786461 | In-frame |
| ENST00000370571 | 85838585 | 85838638 | In-frame |
| ENST00000370571 | 85907194 | 85907247 | In-frame |
| ENST00000370571 | 85961249 | 85961293 | In-frame |
| ENST00000370571 | 85987601 | 85987654 | In-frame |
| ENST00000370571 | 86017151 | 86017204 | In-frame |
| ENST00000370571 | 86092267 | 86092320 | 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 |
| ENST00000370571 | 85786354 | 85786461 | In-frame |
| ENST00000370571 | 85907194 | 85907247 | In-frame |
| ENST00000370571 | 86092267 | 86092320 | 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 |
| ENST00000370571 | 85775674 | 85775709 | In-frame |
| ENST00000370571 | 85786354 | 85786461 | In-frame |
| ENST00000370571 | 85907194 | 85907247 | In-frame |
| ENST00000370571 | 85961249 | 85961293 | In-frame |
| ENST00000370571 | 85987601 | 85987654 | In-frame |
| ENST00000370571 | 86017151 | 86017204 | In-frame |
| ENST00000370571 | 86092267 | 86092320 | In-frame |
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Infer the effects of exon skipping event on protein functional features for COL24A1 |
p-ENSG00000171502_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 |
| ENST00000370571 | 6842 | 1714 | 86092267 | 86092320 | 1967 | 2019 | 533 | 550 |
| ENST00000370571 | 6842 | 1714 | 86017151 | 86017204 | 2624 | 2676 | 752 | 769 |
| ENST00000370571 | 6842 | 1714 | 85987601 | 85987654 | 2678 | 2730 | 770 | 787 |
| ENST00000370571 | 6842 | 1714 | 85961249 | 85961293 | 2885 | 2928 | 839 | 853 |
| ENST00000370571 | 6842 | 1714 | 85907194 | 85907247 | 3092 | 3144 | 908 | 925 |
| ENST00000370571 | 6842 | 1714 | 85838585 | 85838638 | 3995 | 4047 | 1209 | 1226 |
| ENST00000370571 | 6842 | 1714 | 85786354 | 85786461 | 4319 | 4425 | 1317 | 1352 |
| ENST00000370571 | 6842 | 1714 | 85775674 | 85775709 | 4706 | 4740 | 1446 | 1457 |
| ENST00000370571 | 6842 | 1714 | 85734749 | 85734964 | 5150 | 5364 | 1594 | 1665 |
| 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 |
| ENST00000370571 | 6842 | 1714 | 86092267 | 86092320 | 1967 | 2019 | 533 | 550 |
| ENST00000370571 | 6842 | 1714 | 85907194 | 85907247 | 3092 | 3144 | 908 | 925 |
| ENST00000370571 | 6842 | 1714 | 85786354 | 85786461 | 4319 | 4425 | 1317 | 1352 |
| 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 |
| ENST00000370571 | 6842 | 1714 | 86092267 | 86092320 | 1967 | 2019 | 533 | 550 |
| ENST00000370571 | 6842 | 1714 | 86017151 | 86017204 | 2624 | 2676 | 752 | 769 |
| ENST00000370571 | 6842 | 1714 | 85987601 | 85987654 | 2678 | 2730 | 770 | 787 |
| ENST00000370571 | 6842 | 1714 | 85961249 | 85961293 | 2885 | 2928 | 839 | 853 |
| ENST00000370571 | 6842 | 1714 | 85907194 | 85907247 | 3092 | 3144 | 908 | 925 |
| ENST00000370571 | 6842 | 1714 | 85786354 | 85786461 | 4319 | 4425 | 1317 | 1352 |
| ENST00000370571 | 6842 | 1714 | 85775674 | 85775709 | 4706 | 4740 | 1446 | 1457 |
| 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 |
| Q17RW2 | 533 | 550 | 36 | 1714 | Chain | ID=PRO_0000317616;Note=Collagen alpha-1(XXIV) chain |
| Q17RW2 | 533 | 550 | 487 | 542 | Domain | Note=Collagen-like 1 |
| Q17RW2 | 533 | 550 | 546 | 546 | Natural variant | ID=VAR_055675;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12874293;Dbxref=dbSNP:rs11161732,PMID:12874293 |
| Q17RW2 | 752 | 769 | 36 | 1714 | Chain | ID=PRO_0000317616;Note=Collagen alpha-1(XXIV) chain |
| Q17RW2 | 752 | 769 | 741 | 797 | Domain | Note=Collagen-like 4 |
| Q17RW2 | 770 | 787 | 36 | 1714 | Chain | ID=PRO_0000317616;Note=Collagen alpha-1(XXIV) chain |
| Q17RW2 | 770 | 787 | 741 | 797 | Domain | Note=Collagen-like 4 |
| Q17RW2 | 839 | 853 | 36 | 1714 | Chain | ID=PRO_0000317616;Note=Collagen alpha-1(XXIV) chain |
| Q17RW2 | 839 | 853 | 798 | 857 | Domain | Note=Collagen-like 5 |
| Q17RW2 | 839 | 853 | 828 | 849 | Sequence conflict | Note=GYAGEPGPEGLKGEVGDQGNIG->ITVFATLYSFLTGRSRRSRKYW;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q17RW2 | 908 | 925 | 36 | 1714 | Chain | ID=PRO_0000317616;Note=Collagen alpha-1(XXIV) chain |
| Q17RW2 | 908 | 925 | 888 | 947 | Domain | Note=Collagen-like 7 |
| Q17RW2 | 1209 | 1226 | 36 | 1714 | Chain | ID=PRO_0000317616;Note=Collagen alpha-1(XXIV) chain |
| Q17RW2 | 1209 | 1226 | 1201 | 1249 | Domain | Note=Collagen-like 13 |
| Q17RW2 | 1317 | 1352 | 36 | 1714 | Chain | ID=PRO_0000317616;Note=Collagen alpha-1(XXIV) chain |
| Q17RW2 | 1317 | 1352 | 1309 | 1353 | Domain | Note=Collagen-like 15 |
| Q17RW2 | 1446 | 1457 | 36 | 1714 | Chain | ID=PRO_0000317616;Note=Collagen alpha-1(XXIV) chain |
| Q17RW2 | 1446 | 1457 | 1420 | 1479 | Domain | Note=Collagen-like 17 |
| Q17RW2 | 1594 | 1665 | 36 | 1714 | Chain | ID=PRO_0000317616;Note=Collagen alpha-1(XXIV) chain |
| Q17RW2 | 1594 | 1665 | 1515 | 1714 | Domain | Note=Fibrillar collagen NC1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00793 |
| 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 |
| Q17RW2 | 533 | 550 | 36 | 1714 | Chain | ID=PRO_0000317616;Note=Collagen alpha-1(XXIV) chain |
| Q17RW2 | 533 | 550 | 487 | 542 | Domain | Note=Collagen-like 1 |
| Q17RW2 | 533 | 550 | 546 | 546 | Natural variant | ID=VAR_055675;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12874293;Dbxref=dbSNP:rs11161732,PMID:12874293 |
| Q17RW2 | 908 | 925 | 36 | 1714 | Chain | ID=PRO_0000317616;Note=Collagen alpha-1(XXIV) chain |
| Q17RW2 | 908 | 925 | 888 | 947 | Domain | Note=Collagen-like 7 |
| Q17RW2 | 1317 | 1352 | 36 | 1714 | Chain | ID=PRO_0000317616;Note=Collagen alpha-1(XXIV) chain |
| Q17RW2 | 1317 | 1352 | 1309 | 1353 | Domain | Note=Collagen-like 15 |
| 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 |
| Q17RW2 | 533 | 550 | 36 | 1714 | Chain | ID=PRO_0000317616;Note=Collagen alpha-1(XXIV) chain |
| Q17RW2 | 533 | 550 | 487 | 542 | Domain | Note=Collagen-like 1 |
| Q17RW2 | 533 | 550 | 546 | 546 | Natural variant | ID=VAR_055675;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12874293;Dbxref=dbSNP:rs11161732,PMID:12874293 |
| Q17RW2 | 752 | 769 | 36 | 1714 | Chain | ID=PRO_0000317616;Note=Collagen alpha-1(XXIV) chain |
| Q17RW2 | 752 | 769 | 741 | 797 | Domain | Note=Collagen-like 4 |
| Q17RW2 | 770 | 787 | 36 | 1714 | Chain | ID=PRO_0000317616;Note=Collagen alpha-1(XXIV) chain |
| Q17RW2 | 770 | 787 | 741 | 797 | Domain | Note=Collagen-like 4 |
| Q17RW2 | 839 | 853 | 36 | 1714 | Chain | ID=PRO_0000317616;Note=Collagen alpha-1(XXIV) chain |
| Q17RW2 | 839 | 853 | 798 | 857 | Domain | Note=Collagen-like 5 |
| Q17RW2 | 839 | 853 | 828 | 849 | Sequence conflict | Note=GYAGEPGPEGLKGEVGDQGNIG->ITVFATLYSFLTGRSRRSRKYW;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q17RW2 | 908 | 925 | 36 | 1714 | Chain | ID=PRO_0000317616;Note=Collagen alpha-1(XXIV) chain |
| Q17RW2 | 908 | 925 | 888 | 947 | Domain | Note=Collagen-like 7 |
| Q17RW2 | 1317 | 1352 | 36 | 1714 | Chain | ID=PRO_0000317616;Note=Collagen alpha-1(XXIV) chain |
| Q17RW2 | 1317 | 1352 | 1309 | 1353 | Domain | Note=Collagen-like 15 |
| Q17RW2 | 1446 | 1457 | 36 | 1714 | Chain | ID=PRO_0000317616;Note=Collagen alpha-1(XXIV) chain |
| Q17RW2 | 1446 | 1457 | 1420 | 1479 | Domain | Note=Collagen-like 17 |
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3'-UTR located exon skipping events that lost miRNA binding sites in COL24A1 |
| 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 COL24A1 |
| - 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 COL24A1 |
| 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 COL24A1 |
| 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 COL24A1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for COL24A1 |
| 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 COL24A1 |
| 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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