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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for ACVR2A |
 Gene summary |
| Gene information | Gene symbol | ACVR2A | Gene ID | 92 |
| Gene name | activin A receptor type 2A | |
| Synonyms | ACTRII|ACVR2 | |
| Cytomap | 2q22.3-q23.1 | |
| Type of gene | protein-coding | |
| Description | activin receptor type-2Aactivin A receptor, type IIA | |
| Modification date | 20180523 | |
| UniProtAcc | P27037 | |
| Context | PubMed: ACVR2A [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ACVR2A | GO:0030509 | BMP signaling pathway | 18436533 |
| ACVR2A | GO:0032927 | positive regulation of activin receptor signaling pathway | 12665502 |
| ACVR2A | GO:0045648 | positive regulation of erythrocyte differentiation | 9032295 |
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Exon skipping events across known transcript of Ensembl for ACVR2A from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for ACVR2A |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ACVR2A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_330147 | 2 | 148602184:148602275:148602642:148602776:148653869:148654077 | 148602642:148602776 | ENSG00000121989.10 | ENST00000404590.1 |
| exon_skip_330149 | 2 | 148653932:148654077:148655809:148655899:148657026:148657136 | 148655809:148655899 | ENSG00000121989.10 | ENST00000462659.1 |
| exon_skip_330150 | 2 | 148657026:148657136:148657312:148657467:148672759:148672903 | 148657312:148657467 | ENSG00000121989.10 | ENST00000241416.7,ENST00000535787.1,ENST00000404590.1 |
| exon_skip_330152 | 2 | 148657312:148657467:148672759:148672903:148674851:148674995 | 148672759:148672903 | ENSG00000121989.10 | ENST00000241416.7,ENST00000535787.1,ENST00000404590.1 |
| exon_skip_330153 | 2 | 148674851:148674995:148676015:148676161:148677798:148677913 | 148676015:148676161 | ENSG00000121989.10 | ENST00000241416.7,ENST00000535787.1,ENST00000404590.1 |
| exon_skip_330155 | 2 | 148677798:148677913:148680541:148680680:148683599:148683730 | 148680541:148680680 | ENSG00000121989.10 | ENST00000241416.7,ENST00000535787.1,ENST00000404590.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ACVR2A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_330147 | 2 | 148602184:148602275:148602642:148602776:148653869:148654077 | 148602642:148602776 | ENSG00000121989.10 | ENST00000404590.1 |
| exon_skip_330149 | 2 | 148653932:148654077:148655809:148655899:148657026:148657136 | 148655809:148655899 | ENSG00000121989.10 | ENST00000462659.1 |
| exon_skip_330152 | 2 | 148657312:148657467:148672759:148672903:148674851:148674995 | 148672759:148672903 | ENSG00000121989.10 | ENST00000241416.7,ENST00000535787.1,ENST00000404590.1 |
| exon_skip_330153 | 2 | 148674851:148674995:148676015:148676161:148677798:148677913 | 148676015:148676161 | ENSG00000121989.10 | ENST00000241416.7,ENST00000535787.1,ENST00000404590.1 |
| exon_skip_330155 | 2 | 148677798:148677913:148680541:148680680:148683599:148683730 | 148680541:148680680 | ENSG00000121989.10 | ENST00000241416.7,ENST00000535787.1,ENST00000404590.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for ACVR2A |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000404590 | 148602642 | 148602776 | 5CDS-5UTR |
| ENST00000241416 | 148657312 | 148657467 | Frame-shift |
| ENST00000404590 | 148657312 | 148657467 | Frame-shift |
| ENST00000241416 | 148676015 | 148676161 | Frame-shift |
| ENST00000404590 | 148676015 | 148676161 | Frame-shift |
| ENST00000241416 | 148680541 | 148680680 | Frame-shift |
| ENST00000404590 | 148680541 | 148680680 | Frame-shift |
| ENST00000241416 | 148672759 | 148672903 | In-frame |
| ENST00000404590 | 148672759 | 148672903 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000404590 | 148602642 | 148602776 | 5CDS-5UTR |
| ENST00000241416 | 148676015 | 148676161 | Frame-shift |
| ENST00000404590 | 148676015 | 148676161 | Frame-shift |
| ENST00000241416 | 148680541 | 148680680 | Frame-shift |
| ENST00000404590 | 148680541 | 148680680 | Frame-shift |
| ENST00000241416 | 148672759 | 148672903 | In-frame |
| ENST00000404590 | 148672759 | 148672903 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ACVR2A |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| ENST00000241416 | 5745 | 513 | 148672759 | 148672903 | 1165 | 1308 | 176 | 224 |
| ENST00000404590 | 2384 | 513 | 148672759 | 148672903 | 699 | 842 | 176 | 224 |
| Loci of skipped exons in GTEx 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 |
| ENST00000241416 | 5745 | 513 | 148672759 | 148672903 | 1165 | 1308 | 176 | 224 |
| ENST00000404590 | 2384 | 513 | 148672759 | 148672903 | 699 | 842 | 176 | 224 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| P27037 | 176 | 224 | 191 | 199 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3SOC |
| P27037 | 176 | 224 | 191 | 199 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3SOC |
| P27037 | 176 | 224 | 205 | 211 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3SOC |
| P27037 | 176 | 224 | 205 | 211 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3SOC |
| P27037 | 176 | 224 | 214 | 221 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3SOC |
| P27037 | 176 | 224 | 214 | 221 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3SOC |
| P27037 | 176 | 224 | 219 | 219 | Binding site | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P27037 | 176 | 224 | 219 | 219 | Binding site | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P27037 | 176 | 224 | 20 | 513 | Chain | ID=PRO_0000024398;Note=Activin receptor type-2A |
| P27037 | 176 | 224 | 20 | 513 | Chain | ID=PRO_0000024398;Note=Activin receptor type-2A |
| P27037 | 176 | 224 | 192 | 485 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P27037 | 176 | 224 | 192 | 485 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P27037 | 176 | 224 | 223 | 225 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3SOC |
| P27037 | 176 | 224 | 223 | 225 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3SOC |
| P27037 | 176 | 224 | 198 | 206 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P27037 | 176 | 224 | 198 | 206 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P27037 | 176 | 224 | 204 | 206 | Sequence conflict | Note=GCV->PSL;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P27037 | 176 | 224 | 204 | 206 | Sequence conflict | Note=GCV->PSL;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P27037 | 176 | 224 | 162 | 513 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P27037 | 176 | 224 | 162 | 513 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
| P27037 | 176 | 224 | 191 | 199 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3SOC |
| P27037 | 176 | 224 | 191 | 199 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3SOC |
| P27037 | 176 | 224 | 205 | 211 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3SOC |
| P27037 | 176 | 224 | 205 | 211 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3SOC |
| P27037 | 176 | 224 | 214 | 221 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3SOC |
| P27037 | 176 | 224 | 214 | 221 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3SOC |
| P27037 | 176 | 224 | 219 | 219 | Binding site | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P27037 | 176 | 224 | 219 | 219 | Binding site | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P27037 | 176 | 224 | 20 | 513 | Chain | ID=PRO_0000024398;Note=Activin receptor type-2A |
| P27037 | 176 | 224 | 20 | 513 | Chain | ID=PRO_0000024398;Note=Activin receptor type-2A |
| P27037 | 176 | 224 | 192 | 485 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P27037 | 176 | 224 | 192 | 485 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P27037 | 176 | 224 | 223 | 225 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3SOC |
| P27037 | 176 | 224 | 223 | 225 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3SOC |
| P27037 | 176 | 224 | 198 | 206 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P27037 | 176 | 224 | 198 | 206 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P27037 | 176 | 224 | 204 | 206 | Sequence conflict | Note=GCV->PSL;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P27037 | 176 | 224 | 204 | 206 | Sequence conflict | Note=GCV->PSL;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P27037 | 176 | 224 | 162 | 513 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P27037 | 176 | 224 | 162 | 513 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for ACVR2A |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| BLCA | TCGA-ZF-AA51-01 | exon_skip_330150 | 148657313 | 148657467 | 148657415 | 148657415 | Frame_Shift_Del | G | - | p.W159fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_330152 | 148672760 | 148672903 | 148672805 | 148672805 | Frame_Shift_Del | C | - | p.L192fs |
| LIHC | TCGA-2Y-A9H5-01 | exon_skip_330152 | 148672760 | 148672903 | 148672850 | 148672853 | Frame_Shift_Del | TGGA | - | p.206_207del |
| LIHC | TCGA-BC-A69I-01 | exon_skip_330153 | 148676016 | 148676161 | 148676024 | 148676024 | Frame_Shift_Del | A | - | p.L275fs |
| STAD | TCGA-BR-7703-01 | exon_skip_330155 | 148680542 | 148680680 | 148680608 | 148680608 | Frame_Shift_Del | T | - | p.A381fs |
| STAD | TCGA-BR-7703-01 | exon_skip_330155 | 148680542 | 148680680 | 148680608 | 148680608 | Frame_Shift_Del | T | - | p.F382fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_330155 | 148680542 | 148680680 | 148680634 | 148680634 | Frame_Shift_Del | G | - | p.M390fs |
| STAD | TCGA-BR-8484-01 | exon_skip_330147 | 148602643 | 148602776 | 148602741 | 148602741 | Nonsense_Mutation | T | A | p.L7* |
| STAD | TCGA-BR-8484-01 | exon_skip_330147 | 148602643 | 148602776 | 148602741 | 148602741 | Nonsense_Mutation | T | A | p.L7X |
| PAAD | TCGA-US-A774-01 | exon_skip_330150 | 148657313 | 148657467 | 148657443 | 148657443 | Nonsense_Mutation | C | A | p.Y168* |
| READ | TCGA-AG-A002-01 | exon_skip_330152 | 148672760 | 148672903 | 148672871 | 148672871 | Nonsense_Mutation | G | T | p.E214X |
| UCEC | TCGA-AP-A056-01 | exon_skip_330153 | 148676016 | 148676161 | 148676061 | 148676061 | Nonsense_Mutation | G | T | p.E288* |
| SKCM | TCGA-FR-A7U9-06 | exon_skip_330155 | 148680542 | 148680680 | 148680596 | 148680596 | Nonsense_Mutation | C | T | p.Q378* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| KYSE70_OESOPHAGUS | 148657313 | 148657467 | 148657349 | 148657349 | Frame_Shift_Del | A | - | p.Y137fs |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 148672760 | 148672903 | 148672772 | 148672772 | Frame_Shift_Del | C | - | p.P183fs |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 148672760 | 148672903 | 148672772 | 148672772 | Frame_Shift_Del | C | - | p.P183fs |
| HCC1171_LUNG | 148657313 | 148657467 | 148657368 | 148657369 | Frame_Shift_Ins | - | T | p.L144fs |
| BT474_BREAST | 148602643 | 148602776 | 148602771 | 148602771 | Missense_Mutation | C | T | p.S17F |
| HOP92_LUNG | 148657313 | 148657467 | 148657337 | 148657337 | Missense_Mutation | A | T | p.K133M |
| SHP77_LUNG | 148657313 | 148657467 | 148657379 | 148657379 | Missense_Mutation | T | G | p.L147R |
| KE39_STOMACH | 148657313 | 148657467 | 148657386 | 148657386 | Missense_Mutation | A | T | p.L149F |
| HCC1569_BREAST | 148657313 | 148657467 | 148657457 | 148657457 | Missense_Mutation | T | C | p.V173A |
| AM38_CENTRAL_NERVOUS_SYSTEM | 148672760 | 148672903 | 148672830 | 148672830 | Missense_Mutation | G | A | p.R200K |
| LXF289_LUNG | 148676016 | 148676161 | 148676112 | 148676112 | Missense_Mutation | G | A | p.E305K |
| PA1_OVARY | 148680542 | 148680680 | 148680663 | 148680663 | Missense_Mutation | G | A | p.R400H |
| LS123_LARGE_INTESTINE | 148680542 | 148680680 | 148680663 | 148680663 | Missense_Mutation | G | A | p.R400H |
| JHUEM7_ENDOMETRIUM | 148672760 | 148672903 | 148672817 | 148672817 | Nonsense_Mutation | G | T | p.E196* |
| SNU175_LARGE_INTESTINE | 148672760 | 148672903 | 148672835 | 148672835 | Nonsense_Mutation | A | T | p.R202* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ACVR2A |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ACVR2A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ACVR2A |
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RelatedDrugs for ACVR2A |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ACVR2A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ACVR2A | C0920269 | Microsatellite Instability | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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