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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 ACVR1 |
 Gene summary |
| Gene information | Gene symbol | ACVR1 | Gene ID | 90 |
| Gene name | activin A receptor type 1 | |
| Synonyms | ACTRI|ACVR1A|ACVRLK2|ALK2|FOP|SKR1|TSRI | |
| Cytomap | 2q24.1 | |
| Type of gene | protein-coding | |
| Description | activin receptor type-1TGF-B superfamily receptor type Iactivin A receptor, type Iactivin A receptor, type II-like kinase 2activin receptor type Iactivin receptor-like kinase 2hydroxyalkyl-protein kinaseserine/threonine-protein kinase receptor R1 | |
| Modification date | 20200320 | |
| 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 |
| ACVR1 | GO:0006468 | protein phosphorylation | 12065756|19506109 |
| ACVR1 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 8242742 |
| ACVR1 | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | 19506109 |
| ACVR1 | GO:0018107 | peptidyl-threonine phosphorylation | 19736306 |
| ACVR1 | GO:0030509 | BMP signaling pathway | 18436533 |
| ACVR1 | GO:0032924 | activin receptor signaling pathway | 19506109 |
| ACVR1 | GO:0045893 | positive regulation of transcription, DNA-templated | 8242742 |
| ACVR1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 19506109 |
| ACVR1 | GO:0060389 | pathway-restricted SMAD protein phosphorylation | 19736306 |
| ACVR1 | GO:2000017 | positive regulation of determination of dorsal identity | 19506109 |
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Gene structures and expression levels for ACVR1 |
| 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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ENSG00000115170
| 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 |
| TC | UP | ENST00000539637.6 | ACVR1-210:protein_coding:ACVR1 | 2.138917e+01 | 1.308182e+00 | 8.100895e-05 | 1.366266e-03 |
| 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 ACVR1 |
| 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_101280 | chr2 | 157818385:157818559:157819403:157819489:157875796:157875820 | 157819403:157819489 |
| exon_skip_131823 | chr2 | 157799429:157799500:157818385:157818559:157875796:157875820 | 157818385:157818559 |
| exon_skip_137948 | chr2 | 157826528:157826646:157860055:157860179:157875796:157875820 | 157860055:157860179 |
| exon_skip_138396 | chr2 | 157818548:157818559:157826528:157826646:157875796:157875820 | 157826528:157826646 |
| exon_skip_138442 | chr2 | 157818385:157818559:157826528:157826646:157838241:157838278 | 157826528:157826646 |
| exon_skip_230092 | chr2 | 157818385:157818559:157826528:157826646:157875796:157875820 | 157826528:157826646 |
| exon_skip_266256 | chr2 | 157818385:157818559:157819403:157819489:157875796:157875862 | 157819403:157819489 |
| exon_skip_34658 | chr2 | 157818385:157818559:157860033:157860179:157875796:157875820 | 157860033:157860179 |
| exon_skip_4214 | chr2 | 157780408:157780600:157799427:157799500:157818385:157818559 | 157799427:157799500 |
| 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 ACVR1 |
| 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 |
| ENST00000263640 | 157799427 | 157799500 | 3UTR-3CDS |
| ENST00000410057 | 157799427 | 157799500 | 3UTR-3CDS |
| ENST00000434821 | 157799427 | 157799500 | 3UTR-3CDS |
| ENST00000434821 | 157818385 | 157818559 | 3UTR-3UTR |
| ENST00000410057 | 157826528 | 157826646 | 3UTR-3UTR |
| 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 |
| 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 |
| ENST00000263640 | 157799427 | 157799500 | 3UTR-3CDS |
| ENST00000410057 | 157799427 | 157799500 | 3UTR-3CDS |
| ENST00000434821 | 157799427 | 157799500 | 3UTR-3CDS |
| ENST00000434821 | 157818385 | 157818559 | 3UTR-3UTR |
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Infer the effects of exon skipping event on protein functional features for ACVR1 |
p-ENSG00000115170_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 ACVR1 |
| 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 | ENST00000434821 | 157818385 | 157818559 | hsa-miR-3135b | chr2:157818512-157818519 | 8mer-1a | chr2:157818511-157818531 | 156.00 | -22.22 |
| Mayo | ENST00000434821 | 157818385 | 157818559 | hsa-miR-6840-3p | chr2:157818495-157818502 | 8mer-1a | chr2:157818492-157818515 | 159.00 | -21.20 |
| ROSMAP | ENST00000410057 | 157826528 | 157826646 | hsa-miR-6734-3p | chr2:157826559-157826566 | 8mer-1a | chr2:157826555-157826572 | 172.00 | -29.81 |
| ROSMAP | ENST00000410057 | 157826528 | 157826646 | hsa-miR-3664-5p | chr2:157826634-157826641 | 8mer-1a | chr2:157826620-157826641 | 156.00 | -18.37 |
| ROSMAP | ENST00000434821 | 157818385 | 157818559 | hsa-miR-3135b | chr2:157818512-157818519 | 8mer-1a | chr2:157818511-157818531 | 156.00 | -22.22 |
| ROSMAP | ENST00000410057 | 157826528 | 157826646 | hsa-miR-550b-3p | chr2:157826637-157826644 | 8mer-1a | chr2:157826625-157826646 | 155.00 | -19.15 |
| ROSMAP | ENST00000434821 | 157818385 | 157818559 | hsa-miR-6840-3p | chr2:157818495-157818502 | 8mer-1a | chr2:157818492-157818515 | 159.00 | -21.20 |
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SNVs in the skipped exons for ACVR1 |
| - 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 ACVR1 |
| 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 ACVR1 |
| 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 ACVR1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ACVR1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q04771 | approved|investigational | DB12010 | Fostamatinib | small molecule | Q04771 |
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RelatedDiseases for ACVR1 |
| 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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