|
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 DOC2A |
Gene summary |
Gene information | Gene symbol | DOC2A | Gene ID | 8448 |
Gene name | double C2 domain alpha | |
Synonyms | Doc2 | |
Cytomap | 16p11.2 | |
Type of gene | protein-coding | |
Description | double C2-like domain-containing protein alphadoc2-alphadouble C2-like domains, alpha | |
Modification date | 20200327 | |
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 |
Top |
Gene structures and expression levels for DOC2A |
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 |
DLPFC | DOWN | ENST00000563378.5 | DOC2A-204:protein_coding:DOC2A | 1.247760e+01 | -1.078559e+00 | 1.061276e-05 | 1.491792e-03 |
DLPFC | DOWN | ENST00000567332.6 | DOC2A-213:protein_coding:DOC2A | 4.104608e+00 | -9.115347e-01 | 1.953930e-05 | 2.284929e-03 |
CB | UP | ENST00000567824.1 | DOC2A-214:lncRNA:DOC2A | 1.144696e+01 | 8.144215e-01 | 1.155800e-07 | 2.401944e-06 |
CB | UP | ENST00000572637.1 | DOC2A-216:lncRNA:DOC2A | 1.805205e+00 | 8.992262e-01 | 1.172838e-03 | 5.908440e-03 |
TC | DOWN | ENST00000563378.5 | DOC2A-204:protein_coding:DOC2A | 6.827569e+00 | -8.117121e-01 | 5.968369e-03 | 3.820089e-02 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for DOC2A |
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_109516 | chr16 | 30010127:30010235:30010903:30010989:30011330:30011421 | 30010903:30010989 |
exon_skip_111480 | chr16 | 30010123:30010235:30010903:30010989:30011330:30011421 | 30010903:30010989 |
exon_skip_118817 | chr16 | 30005516:30006331:30006413:30006509:30006596:30006677 | 30006413:30006509 |
exon_skip_122387 | chr16 | 30009478:30009557:30009961:30010235:30010903:30010989 | 30009961:30010235 |
exon_skip_123323 | chr16 | 30007031:30007090:30007173:30007299:30008996:30009105 | 30007173:30007299 |
exon_skip_127423 | chr16 | 30009961:30010026:30010273:30010340:30010903:30010989 | 30010273:30010340 |
exon_skip_176305 | chr16 | 30006136:30006331:30006413:30006509:30006596:30006677 | 30006413:30006509 |
exon_skip_186565 | chr16 | 30009478:30009557:30009961:30010026:30010273:30010340 | 30009961:30010026 |
exon_skip_206772 | chr16 | 30006119:30006331:30006413:30006509:30006596:30006677 | 30006413:30006509 |
exon_skip_209977 | chr16 | 30010127:30010235:30010903:30010989:30012205:30012304 | 30010903:30010989 |
exon_skip_244317 | chr16 | 30007031:30007090:30007173:30007299:30009004:30009105 | 30007173:30007299 |
exon_skip_279084 | chr16 | 30010190:30010235:30010903:30010989:30012205:30012304 | 30010903:30010989 |
exon_skip_40228 | chr16 | 30010123:30010235:30010903:30010989:30012205:30012304 | 30010903:30010989 |
exon_skip_52000 | chr16 | 30009478:30009557:30009961:30010026:30010903:30010989 | 30009961:30010026 |
exon_skip_54315 | chr16 | 30009226:30009276:30009478:30009557:30009961:30010026 | 30009478:30009557 |
exon_skip_58279 | chr16 | 30010190:30010235:30010903:30010989:30011330:30011421 | 30010903:30010989 |
exon_skip_88925 | chr16 | 30006119:30006331:30006413:30006509:30006596:30006623 | 30006413:30006509 |
exon_skip_95560 | chr16 | 30009961:30010235:30010903:30010989:30011330:30011421 | 30010903:30010989 |
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 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for DOC2A |
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 |
ENST00000616445 | 30010903 | 30010989 | 3UTR-3UTR |
ENST00000350119 | 30006413 | 30006509 | Frame-shift |
ENST00000564944 | 30006413 | 30006509 | Frame-shift |
ENST00000564979 | 30006413 | 30006509 | Frame-shift |
ENST00000616445 | 30006413 | 30006509 | Frame-shift |
ENST00000350119 | 30007173 | 30007299 | Frame-shift |
ENST00000564944 | 30007173 | 30007299 | Frame-shift |
ENST00000564979 | 30007173 | 30007299 | Frame-shift |
ENST00000616445 | 30007173 | 30007299 | Frame-shift |
ENST00000350119 | 30009478 | 30009557 | Frame-shift |
ENST00000564944 | 30009478 | 30009557 | Frame-shift |
ENST00000564979 | 30009478 | 30009557 | Frame-shift |
ENST00000616445 | 30009478 | 30009557 | 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 |
ENST00000616445 | 30010903 | 30010989 | 3UTR-3UTR |
ENST00000350119 | 30006413 | 30006509 | Frame-shift |
ENST00000564944 | 30006413 | 30006509 | Frame-shift |
ENST00000564979 | 30006413 | 30006509 | Frame-shift |
ENST00000616445 | 30006413 | 30006509 | Frame-shift |
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 |
ENST00000616445 | 30009961 | 30010235 | 3UTR-3CDS |
ENST00000616445 | 30010903 | 30010989 | 3UTR-3UTR |
ENST00000350119 | 30006413 | 30006509 | Frame-shift |
ENST00000564944 | 30006413 | 30006509 | Frame-shift |
ENST00000564979 | 30006413 | 30006509 | Frame-shift |
ENST00000616445 | 30006413 | 30006509 | Frame-shift |
ENST00000350119 | 30007173 | 30007299 | Frame-shift |
ENST00000564944 | 30007173 | 30007299 | Frame-shift |
ENST00000564979 | 30007173 | 30007299 | Frame-shift |
ENST00000616445 | 30007173 | 30007299 | Frame-shift |
ENST00000350119 | 30009478 | 30009557 | Frame-shift |
ENST00000564944 | 30009478 | 30009557 | Frame-shift |
ENST00000564979 | 30009478 | 30009557 | Frame-shift |
ENST00000616445 | 30009478 | 30009557 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for DOC2A |
p-ENSG00000149927_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 |
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 |
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 |
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 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in DOC2A |
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 | ENST00000616445 | 30010903 | 30010989 | hsa-miR-10401-3p | chr16:30010967-30010974 | 8mer-1a | chr16:30010953-30010974 | 162.00 | -40.18 |
Mayo | ENST00000616445 | 30010903 | 30010989 | hsa-miR-661 | chr16:30010921-30010928 | 8mer-1a | chr16:30010905-30010928 | 154.00 | -27.02 |
MSBB | ENST00000616445 | 30010903 | 30010989 | hsa-miR-10401-3p | chr16:30010967-30010974 | 8mer-1a | chr16:30010953-30010974 | 162.00 | -40.18 |
MSBB | ENST00000616445 | 30010903 | 30010989 | hsa-miR-661 | chr16:30010921-30010928 | 8mer-1a | chr16:30010905-30010928 | 154.00 | -27.02 |
ROSMAP | ENST00000616445 | 30010903 | 30010989 | hsa-miR-10401-3p | chr16:30010967-30010974 | 8mer-1a | chr16:30010953-30010974 | 162.00 | -40.18 |
ROSMAP | ENST00000616445 | 30010903 | 30010989 | hsa-miR-661 | chr16:30010921-30010928 | 8mer-1a | chr16:30010905-30010928 | 154.00 | -27.02 |
Top |
SNVs in the skipped exons for DOC2A |
- 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 |
Top |
AD stage-associated exon skippint events for DOC2A |
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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DOC2A |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for DOC2A |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | TIA1 | exon_skip_88925 | 4.430179e-01 | 4.985306e-09 |
CB | PTBP1 | exon_skip_88925 | -4.369422e-01 | 8.499032e-09 |
Top |
RelatedDrugs for DOC2A |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for DOC2A |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |