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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 AHDC1 |
Gene summary |
Gene information | Gene symbol | AHDC1 | Gene ID | 27245 |
Gene name | AT-hook DNA binding motif containing 1 | |
Synonyms | MRD25 | |
Cytomap | 1p36.11-p35.3 | |
Type of gene | protein-coding | |
Description | AT-hook DNA-binding motif-containing protein 1 | |
Modification date | 20200313 | |
UniProtAcc | Q5TGY3, | |
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 AHDC1 |
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 |
CB | UP | ENST00000645669.1 | AHDC1-214:lncRNA:AHDC1 | 4.038551e+01 | 9.209736e-01 | 4.941146e-09 | 1.665924e-07 |
CB | DOWN | ENST00000247087.10 | AHDC1-201:protein_coding:AHDC1 | 4.882625e+02 | -8.413042e-01 | 1.588260e-08 | 4.465126e-07 |
CB | DOWN | ENST00000487743.3 | AHDC1-204:lncRNA:AHDC1 | 7.410128e-01 | -2.771479e+00 | 3.046673e-03 | 1.307062e-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 AHDC1 |
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_114080 | chr1 | 27553299:27553304:27558305:27558530:27558706:27558883 | 27558305:27558530 |
exon_skip_123201 | chr1 | 27553146:27553185:27558305:27558530:27558706:27558883 | 27558305:27558530 |
exon_skip_147204 | chr1 | 27603397:27603494:27603728:27603863:27604110:27604144 | 27603728:27603863 |
exon_skip_154256 | chr1 | 27558814:27558883:27603397:27603491:27603728:27603860 | 27603397:27603491 |
exon_skip_159146 | chr1 | 27553146:27553185:27558706:27558883:27603397:27603414 | 27558706:27558883 |
exon_skip_200750 | chr1 | 27603397:27603491:27603728:27603863:27604110:27604144 | 27603728:27603863 |
exon_skip_203933 | chr1 | 27558814:27558883:27603397:27603494:27604160:27604177 | 27603397:27603494 |
exon_skip_244010 | chr1 | 27553074:27553304:27558305:27558530:27558706:27558883 | 27558305:27558530 |
exon_skip_264340 | chr1 | 27534685:27534916:27547261:27552189:27552892:27552929 | 27547261:27552189 |
exon_skip_267847 | chr1 | 27558814:27558883:27603397:27603494:27603728:27603860 | 27603397:27603494 |
exon_skip_28633 | chr1 | 27552039:27552189:27552892:27552929:27553074:27553185 | 27552892:27552929 |
exon_skip_29045 | chr1 | 27552122:27552189:27552892:27552929:27553074:27553185 | 27552892:27552929 |
exon_skip_30421 | chr1 | 27534762:27534916:27547261:27552189:27552892:27552929 | 27547261:27552189 |
exon_skip_84632 | chr1 | 27553226:27553290:27558305:27558530:27558706:27558883 | 27558305:27558530 |
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_123201 | ROSMAP_HCC | 6.705389e-01 | 5.373118e-01 | 1.332271e-01 | 1.845806e-08 |
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Open reading frame (ORF) annotation in the exon skipping event for AHDC1 |
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 |
ENST00000247087 | 27552892 | 27552929 | 3UTR-3UTR |
ENST00000374011 | 27552892 | 27552929 | 3UTR-3UTR |
ENST00000642245 | 27552892 | 27552929 | 3UTR-3UTR |
ENST00000642416 | 27552892 | 27552929 | 3UTR-3UTR |
ENST00000644989 | 27552892 | 27552929 | 3UTR-3UTR |
ENST00000374011 | 27558305 | 27558530 | 3UTR-3UTR |
ENST00000642245 | 27558305 | 27558530 | 3UTR-3UTR |
ENST00000642245 | 27603397 | 27603491 | 3UTR-3UTR |
ENST00000642416 | 27603397 | 27603494 | 3UTR-3UTR |
ENST00000642245 | 27603728 | 27603863 | 3UTR-3UTR |
ENST00000247087 | 27547261 | 27552189 | 3UTR-5UTR |
ENST00000374011 | 27547261 | 27552189 | 3UTR-5UTR |
ENST00000642245 | 27547261 | 27552189 | 3UTR-5UTR |
ENST00000642416 | 27547261 | 27552189 | 3UTR-5UTR |
ENST00000644989 | 27547261 | 27552189 | 3UTR-5UTR |
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 |
ENST00000374011 | 27558305 | 27558530 | 3UTR-3UTR |
ENST00000642245 | 27558305 | 27558530 | 3UTR-3UTR |
ENST00000642245 | 27603397 | 27603491 | 3UTR-3UTR |
ENST00000642245 | 27603728 | 27603863 | 3UTR-3UTR |
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 |
ENST00000247087 | 27552892 | 27552929 | 3UTR-3UTR |
ENST00000374011 | 27552892 | 27552929 | 3UTR-3UTR |
ENST00000642245 | 27552892 | 27552929 | 3UTR-3UTR |
ENST00000642416 | 27552892 | 27552929 | 3UTR-3UTR |
ENST00000644989 | 27552892 | 27552929 | 3UTR-3UTR |
ENST00000374011 | 27558305 | 27558530 | 3UTR-3UTR |
ENST00000642245 | 27558305 | 27558530 | 3UTR-3UTR |
ENST00000642245 | 27603397 | 27603491 | 3UTR-3UTR |
ENST00000642416 | 27603397 | 27603494 | 3UTR-3UTR |
ENST00000642245 | 27603728 | 27603863 | 3UTR-3UTR |
ENST00000247087 | 27547261 | 27552189 | 3UTR-5UTR |
ENST00000374011 | 27547261 | 27552189 | 3UTR-5UTR |
ENST00000642245 | 27547261 | 27552189 | 3UTR-5UTR |
ENST00000642416 | 27547261 | 27552189 | 3UTR-5UTR |
ENST00000644989 | 27547261 | 27552189 | 3UTR-5UTR |
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Infer the effects of exon skipping event on protein functional features for AHDC1 |
p-ENSG00000126705_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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in AHDC1 |
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 | ENST00000642245 | 27558305 | 27558530 | hsa-miR-6859-3p | chr1:27558357-27558364 | 8mer-1a | chr1:27558340-27558364 | 164.00 | -32.65 |
Mayo | ENST00000644989 | 27552892 | 27552929 | hsa-miR-199a-5p | chr1:27552917-27552924 | 8mer-1a | chr1:27552904-27552929 | 153.00 | -26.77 |
Mayo | ENST00000642245 | 27558305 | 27558530 | hsa-miR-4293 | chr1:27558479-27558486 | 8mer-1a | chr1:27558472-27558486 | 142.00 | -13.39 |
Mayo | ENST00000642245 | 27558305 | 27558530 | hsa-miR-3944-5p | chr1:27558368-27558375 | 8mer-1a | chr1:27558366-27558387 | 164.00 | -24.71 |
Mayo | ENST00000642245 | 27603728 | 27603863 | hsa-miR-6761-5p | chr1:27603812-27603819 | 8mer-1a | chr1:27603797-27603819 | 154.00 | -25.12 |
Mayo | ENST00000642245 | 27558305 | 27558530 | hsa-miR-7106-5p | chr1:27558436-27558443 | 8mer-1a | chr1:27558423-27558444 | 158.00 | -30.56 |
Mayo | ENST00000642245 | 27558305 | 27558530 | hsa-miR-4504 | chr1:27558419-27558426 | 8mer-1a | chr1:27558415-27558434 | 160.00 | -20.72 |
Mayo | ENST00000642245 | 27558305 | 27558530 | hsa-miR-2467-5p | chr1:27558513-27558520 | 8mer-1a | chr1:27558511-27558530 | 163.00 | -24.61 |
Mayo | ENST00000642245 | 27558305 | 27558530 | hsa-miR-6828-5p | chr1:27558323-27558330 | 8mer-1a | chr1:27558310-27558330 | 161.00 | -22.95 |
Mayo | ENST00000644989 | 27552892 | 27552929 | hsa-miR-3925-3p | chr1:27552919-27552926 | 8mer-1a | chr1:27552904-27552929 | 153.00 | -26.77 |
Mayo | ENST00000642245 | 27558305 | 27558530 | hsa-miR-490-5p | chr1:27558507-27558514 | 8mer-1a | chr1:27558496-27558514 | 156.00 | -17.74 |
Mayo | ENST00000644989 | 27552892 | 27552929 | hsa-miR-199b-5p | chr1:27552917-27552924 | 8mer-1a | chr1:27552904-27552929 | 153.00 | -26.77 |
Mayo | ENST00000642245 | 27558305 | 27558530 | hsa-miR-7114-5p | chr1:27558327-27558334 | 8mer-1a | chr1:27558326-27558349 | 163.00 | -29.68 |
Mayo | ENST00000644989 | 27552892 | 27552929 | hsa-miR-542-3p | chr1:27552912-27552919 | 8mer-1a | chr1:27552904-27552929 | 153.00 | -26.77 |
MSBB | ENST00000642245 | 27558305 | 27558530 | hsa-miR-6859-3p | chr1:27558357-27558364 | 8mer-1a | chr1:27558340-27558364 | 164.00 | -32.65 |
MSBB | ENST00000642245 | 27558305 | 27558530 | hsa-miR-4293 | chr1:27558479-27558486 | 8mer-1a | chr1:27558472-27558486 | 142.00 | -13.39 |
MSBB | ENST00000642245 | 27558305 | 27558530 | hsa-miR-3944-5p | chr1:27558368-27558375 | 8mer-1a | chr1:27558366-27558387 | 164.00 | -24.71 |
MSBB | ENST00000642245 | 27603728 | 27603863 | hsa-miR-6761-5p | chr1:27603812-27603819 | 8mer-1a | chr1:27603797-27603819 | 154.00 | -25.12 |
MSBB | ENST00000642245 | 27558305 | 27558530 | hsa-miR-7106-5p | chr1:27558436-27558443 | 8mer-1a | chr1:27558423-27558444 | 158.00 | -30.56 |
MSBB | ENST00000642245 | 27558305 | 27558530 | hsa-miR-4504 | chr1:27558419-27558426 | 8mer-1a | chr1:27558415-27558434 | 160.00 | -20.72 |
MSBB | ENST00000642245 | 27558305 | 27558530 | hsa-miR-2467-5p | chr1:27558513-27558520 | 8mer-1a | chr1:27558511-27558530 | 163.00 | -24.61 |
MSBB | ENST00000642245 | 27558305 | 27558530 | hsa-miR-6828-5p | chr1:27558323-27558330 | 8mer-1a | chr1:27558310-27558330 | 161.00 | -22.95 |
MSBB | ENST00000642245 | 27558305 | 27558530 | hsa-miR-490-5p | chr1:27558507-27558514 | 8mer-1a | chr1:27558496-27558514 | 156.00 | -17.74 |
MSBB | ENST00000642245 | 27558305 | 27558530 | hsa-miR-7114-5p | chr1:27558327-27558334 | 8mer-1a | chr1:27558326-27558349 | 163.00 | -29.68 |
ROSMAP | ENST00000642245 | 27558305 | 27558530 | hsa-miR-6859-3p | chr1:27558357-27558364 | 8mer-1a | chr1:27558340-27558364 | 164.00 | -32.65 |
ROSMAP | ENST00000644989 | 27552892 | 27552929 | hsa-miR-199a-5p | chr1:27552917-27552924 | 8mer-1a | chr1:27552904-27552929 | 153.00 | -26.77 |
ROSMAP | ENST00000642245 | 27558305 | 27558530 | hsa-miR-4293 | chr1:27558479-27558486 | 8mer-1a | chr1:27558472-27558486 | 142.00 | -13.39 |
ROSMAP | ENST00000642245 | 27558305 | 27558530 | hsa-miR-3944-5p | chr1:27558368-27558375 | 8mer-1a | chr1:27558366-27558387 | 164.00 | -24.71 |
ROSMAP | ENST00000642245 | 27603728 | 27603863 | hsa-miR-6761-5p | chr1:27603812-27603819 | 8mer-1a | chr1:27603797-27603819 | 154.00 | -25.12 |
ROSMAP | ENST00000642245 | 27558305 | 27558530 | hsa-miR-7106-5p | chr1:27558436-27558443 | 8mer-1a | chr1:27558423-27558444 | 158.00 | -30.56 |
ROSMAP | ENST00000642245 | 27558305 | 27558530 | hsa-miR-4504 | chr1:27558419-27558426 | 8mer-1a | chr1:27558415-27558434 | 160.00 | -20.72 |
ROSMAP | ENST00000642245 | 27558305 | 27558530 | hsa-miR-2467-5p | chr1:27558513-27558520 | 8mer-1a | chr1:27558511-27558530 | 163.00 | -24.61 |
ROSMAP | ENST00000642245 | 27558305 | 27558530 | hsa-miR-6828-5p | chr1:27558323-27558330 | 8mer-1a | chr1:27558310-27558330 | 161.00 | -22.95 |
ROSMAP | ENST00000644989 | 27552892 | 27552929 | hsa-miR-3925-3p | chr1:27552919-27552926 | 8mer-1a | chr1:27552904-27552929 | 153.00 | -26.77 |
ROSMAP | ENST00000642245 | 27558305 | 27558530 | hsa-miR-490-5p | chr1:27558507-27558514 | 8mer-1a | chr1:27558496-27558514 | 156.00 | -17.74 |
ROSMAP | ENST00000644989 | 27552892 | 27552929 | hsa-miR-199b-5p | chr1:27552917-27552924 | 8mer-1a | chr1:27552904-27552929 | 153.00 | -26.77 |
ROSMAP | ENST00000642245 | 27558305 | 27558530 | hsa-miR-7114-5p | chr1:27558327-27558334 | 8mer-1a | chr1:27558326-27558349 | 163.00 | -29.68 |
ROSMAP | ENST00000644989 | 27552892 | 27552929 | hsa-miR-542-3p | chr1:27552912-27552919 | 8mer-1a | chr1:27552904-27552929 | 153.00 | -26.77 |
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SNVs in the skipped exons for AHDC1 |
- 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 AHDC1 |
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 AHDC1 |
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 AHDC1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | TARDBP | exon_skip_123201 | 5.085852e-01 | 7.688570e-12 |
CB | RBM6 | exon_skip_123201 | 4.930187e-01 | 4.057857e-11 |
CB | PCBP4 | exon_skip_123201 | -5.161439e-01 | 3.323905e-12 |
CB | HNRNPA2B1 | exon_skip_123201 | 4.935037e-01 | 3.857722e-11 |
HCC | HNRNPD | exon_skip_123201 | -4.481349e-01 | 3.010922e-14 |
IFG | IGF2BP3 | exon_skip_123201 | 4.077479e-01 | 3.475485e-02 |
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RelatedDrugs for AHDC1 |
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 AHDC1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |