ExonSkipDB: functional annotation of exon skipping event in human

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	20180523
	UniProtAcc	Q04771
	Context	PubMed: ACVR1 [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
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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Exon skipping events across known transcript of Ensembl for ACVR1 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 ACVR1

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for ACVR1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_344126	2	158594951:158595082:158617391:158617589:158622432:158622708	158617391:158617589	ENSG00000115170.9	ENST00000409283.2,ENST00000263640.3,ENST00000434821.1,ENST00000410057.2
exon_skip_344129	2	158636965:158637112:158655938:158656012:158674896:158675071	158655938:158656012	ENSG00000115170.9	ENST00000263640.3,ENST00000539637.1,ENST00000424669.1,ENST00000434821.1,ENST00000412025.1,ENST00000410057.2,ENST00000440523.1
exon_skip_344139	2	158655940:158656012:158674896:158675071:158683039:158683158	158674896:158675071	ENSG00000115170.9	ENST00000413751.1,ENST00000539637.1,ENST00000410057.2
exon_skip_344142	2	158655940:158656012:158674896:158675071:158732307:158732352	158674896:158675071	ENSG00000115170.9	ENST00000434821.1
exon_skip_344154	2	158674896:158675071:158675914:158676001:158732307:158732352	158675914:158676001	ENSG00000115170.9	ENST00000424669.1
exon_skip_344155	2	158674896:158675071:158683039:158683158:158694752:158694790	158683039:158683158	ENSG00000115170.9	ENST00000410057.2
exon_skip_344157	2	158674896:158675071:158683039:158683158:158716566:158716691	158683039:158683158	ENSG00000115170.9	ENST00000413751.1
exon_skip_344160	2	158675059:158675071:158683039:158683158:158732307:158732352	158683039:158683158	ENSG00000115170.9	ENST00000539637.1
exon_skip_344174	2	158683039:158683158:158716566:158716691:158732307:158732352	158716566:158716691	ENSG00000115170.9	ENST00000413751.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ACVR1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_344126	2	158594951:158595082:158617391:158617589:158622432:158622708	158617391:158617589	ENSG00000115170.9	ENST00000263640.3,ENST00000409283.2,ENST00000434821.1,ENST00000410057.2
exon_skip_344129	2	158636965:158637112:158655938:158656012:158674896:158675071	158655938:158656012	ENSG00000115170.9	ENST00000263640.3,ENST00000434821.1,ENST00000410057.2,ENST00000412025.1,ENST00000440523.1,ENST00000539637.1,ENST00000424669.1
exon_skip_344139	2	158655940:158656012:158674896:158675071:158683039:158683158	158674896:158675071	ENSG00000115170.9	ENST00000410057.2,ENST00000539637.1,ENST00000413751.1
exon_skip_344142	2	158655940:158656012:158674896:158675071:158732307:158732352	158674896:158675071	ENSG00000115170.9	ENST00000434821.1
exon_skip_344154	2	158674896:158675071:158675914:158676001:158732307:158732352	158675914:158676001	ENSG00000115170.9	ENST00000424669.1
exon_skip_344157	2	158674896:158675071:158683039:158683158:158716566:158716691	158683039:158683158	ENSG00000115170.9	ENST00000413751.1
exon_skip_344160	2	158675059:158675071:158683039:158683158:158732307:158732352	158683039:158683158	ENSG00000115170.9	ENST00000539637.1
exon_skip_344174	2	158683039:158683158:158716566:158716691:158732307:158732352	158716566:158716691	ENSG00000115170.9	ENST00000413751.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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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 TCGA based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000263640	158655938	158656012	3UTR-3CDS
ENST00000410057	158655938	158656012	3UTR-3CDS
ENST00000434821	158655938	158656012	3UTR-3CDS
ENST00000410057	158674896	158675071	3UTR-3UTR
ENST00000434821	158674896	158675071	3UTR-3UTR
ENST00000410057	158683039	158683158	3UTR-3UTR
ENST00000263640	158617391	158617589	In-frame
ENST00000409283	158617391	158617589	In-frame
ENST00000410057	158617391	158617589	In-frame
ENST00000434821	158617391	158617589	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
ENST00000263640	158655938	158656012	3UTR-3CDS
ENST00000410057	158655938	158656012	3UTR-3CDS
ENST00000434821	158655938	158656012	3UTR-3CDS
ENST00000410057	158674896	158675071	3UTR-3UTR
ENST00000434821	158674896	158675071	3UTR-3UTR
ENST00000263640	158617391	158617589	In-frame
ENST00000409283	158617391	158617589	In-frame
ENST00000410057	158617391	158617589	In-frame
ENST00000434821	158617391	158617589	In-frame

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Infer the effects of exon skipping event on protein functional features for ACVR1

Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.

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
ENST00000263640	3062	509	158617391	158617589	1497	1694	355	421
ENST00000409283	2896	509	158617391	158617589	1334	1531	355	421
ENST00000410057	2101	509	158617391	158617589	1406	1603	355	421
ENST00000434821	2878	509	158617391	158617589	1316	1513	355	421

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
ENST00000263640	3062	509	158617391	158617589	1497	1694	355	421
ENST00000409283	2896	509	158617391	158617589	1334	1531	355	421
ENST00000410057	2101	509	158617391	158617589	1406	1603	355	421
ENST00000434821	2878	509	158617391	158617589	1316	1513	355	421

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
Q04771	355	421	359	362	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	359	362	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	359	362	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	359	362	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	367	369	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	367	369	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	367	369	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	367	369	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	21	509	Chain	ID=PRO_0000024394;Note=Activin receptor type-1
Q04771	355	421	21	509	Chain	ID=PRO_0000024394;Note=Activin receptor type-1
Q04771	355	421	21	509	Chain	ID=PRO_0000024394;Note=Activin receptor type-1
Q04771	355	421	21	509	Chain	ID=PRO_0000024394;Note=Activin receptor type-1
Q04771	355	421	208	502	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q04771	355	421	208	502	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q04771	355	421	208	502	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q04771	355	421	208	502	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q04771	355	421	379	381	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	379	381	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	379	381	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	379	381	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	384	387	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	384	387	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	384	387	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	384	387	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	396	415	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	396	415	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	396	415	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	396	415	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	356	356	Natural variant	ID=VAR_058424;Note=In FOP%3B variant phenotype. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19085907;Dbxref=dbSNP:rs121912679,PMID:19085907
Q04771	355	421	356	356	Natural variant	ID=VAR_058424;Note=In FOP%3B variant phenotype. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19085907;Dbxref=dbSNP:rs121912679,PMID:19085907
Q04771	355	421	356	356	Natural variant	ID=VAR_058424;Note=In FOP%3B variant phenotype. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19085907;Dbxref=dbSNP:rs121912679,PMID:19085907
Q04771	355	421	356	356	Natural variant	ID=VAR_058424;Note=In FOP%3B variant phenotype. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19085907;Dbxref=dbSNP:rs121912679,PMID:19085907
Q04771	355	421	375	375	Natural variant	ID=VAR_058425;Note=In FOP%3B variant phenotype. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19085907;Dbxref=dbSNP:rs387906590,PMID:19085907
Q04771	355	421	375	375	Natural variant	ID=VAR_058425;Note=In FOP%3B variant phenotype. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19085907;Dbxref=dbSNP:rs387906590,PMID:19085907
Q04771	355	421	375	375	Natural variant	ID=VAR_058425;Note=In FOP%3B variant phenotype. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19085907;Dbxref=dbSNP:rs387906590,PMID:19085907
Q04771	355	421	375	375	Natural variant	ID=VAR_058425;Note=In FOP%3B variant phenotype. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19085907;Dbxref=dbSNP:rs387906590,PMID:19085907
Q04771	355	421	147	509	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q04771	355	421	147	509	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q04771	355	421	147	509	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q04771	355	421	147	509	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q04771	355	421	363	366	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	363	366	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	363	366	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	363	366	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U

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
Q04771	355	421	359	362	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	359	362	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	359	362	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	359	362	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	367	369	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	367	369	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	367	369	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	367	369	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	21	509	Chain	ID=PRO_0000024394;Note=Activin receptor type-1
Q04771	355	421	21	509	Chain	ID=PRO_0000024394;Note=Activin receptor type-1
Q04771	355	421	21	509	Chain	ID=PRO_0000024394;Note=Activin receptor type-1
Q04771	355	421	21	509	Chain	ID=PRO_0000024394;Note=Activin receptor type-1
Q04771	355	421	208	502	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q04771	355	421	208	502	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q04771	355	421	208	502	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q04771	355	421	208	502	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q04771	355	421	379	381	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	379	381	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	379	381	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	379	381	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	384	387	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	384	387	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	384	387	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	384	387	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	396	415	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	396	415	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	396	415	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	396	415	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	356	356	Natural variant	ID=VAR_058424;Note=In FOP%3B variant phenotype. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19085907;Dbxref=dbSNP:rs121912679,PMID:19085907
Q04771	355	421	356	356	Natural variant	ID=VAR_058424;Note=In FOP%3B variant phenotype. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19085907;Dbxref=dbSNP:rs121912679,PMID:19085907
Q04771	355	421	356	356	Natural variant	ID=VAR_058424;Note=In FOP%3B variant phenotype. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19085907;Dbxref=dbSNP:rs121912679,PMID:19085907
Q04771	355	421	356	356	Natural variant	ID=VAR_058424;Note=In FOP%3B variant phenotype. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19085907;Dbxref=dbSNP:rs121912679,PMID:19085907
Q04771	355	421	375	375	Natural variant	ID=VAR_058425;Note=In FOP%3B variant phenotype. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19085907;Dbxref=dbSNP:rs387906590,PMID:19085907
Q04771	355	421	375	375	Natural variant	ID=VAR_058425;Note=In FOP%3B variant phenotype. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19085907;Dbxref=dbSNP:rs387906590,PMID:19085907
Q04771	355	421	375	375	Natural variant	ID=VAR_058425;Note=In FOP%3B variant phenotype. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19085907;Dbxref=dbSNP:rs387906590,PMID:19085907
Q04771	355	421	375	375	Natural variant	ID=VAR_058425;Note=In FOP%3B variant phenotype. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19085907;Dbxref=dbSNP:rs387906590,PMID:19085907
Q04771	355	421	147	509	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q04771	355	421	147	509	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q04771	355	421	147	509	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q04771	355	421	147	509	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q04771	355	421	363	366	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	363	366	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	363	366	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U
Q04771	355	421	363	366	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3Q4U

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SNVs in the skipped exons for ACVR1

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- 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
LIHC	TCGA-DD-A1EG-01	exon_skip_344129	158655939	158656012	158655955	158655955	Frame_Shift_Del	G	-	p.P17fs

- 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
NCIH1836_LUNG	158617392	158617589	158617454	158617454	Missense_Mutation	C	A	p.R401M

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ACVR1

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 ACVR1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ACVR1

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RelatedDrugs for ACVR1

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
	Q04771	DB12010	Fostamatinib	Activin receptor type-1	small molecule	approved\|investigational

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RelatedDiseases for ACVR1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
ACVR1	C0017638	Glioma	3	CTD_human
ACVR1	C0016037	Fibrodysplasia Ossificans Progressiva	2	ORPHANET;UNIPROT
ACVR1	C0004114	Astrocytoma	1	CTD_human
ACVR1	C0242488	Acute Lung Injury	1	CTD_human
ACVR1	C1458155	Mammary Neoplasms	1	CTD_human

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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