ACVR1 (activin A receptor type 1) - Rat Genome Database

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Gene: ACVR1 (activin A receptor type 1) Homo sapiens
Analyze
Symbol: ACVR1
Name: activin A receptor type 1
RGD ID: 1344480
HGNC Page HGNC:171
Description: Enables several functions, including ATP binding activity; activin binding activity; and protein homodimerization activity. Contributes to activin receptor activity, type I. Involved in several processes, including heart development; positive regulation of protein phosphorylation; and transmembrane receptor protein serine/threonine kinase signaling pathway. Is integral component of plasma membrane. Part of activin receptor complex. Implicated in fibrodysplasia ossificans progressiva. Biomarker of pancreatic cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: activin A receptor type I; activin A receptor, type I; activin A receptor, type II-like kinase 2; activin receptor type I; activin receptor type-1; activin receptor-like kinase 2; ACTRI; ACVR1A; ACVRLK2; ALK2; FOP; hydroxyalkyl-protein kinase; serine/threonine-protein kinase receptor R1; SKR1; TGF-B superfamily receptor type I; TSRI
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382157,736,446 - 157,876,330 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2157,736,251 - 157,876,330 (-)EnsemblGRCh38hg38GRCh38
GRCh372158,592,958 - 158,732,842 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362158,301,207 - 158,403,036 (-)NCBINCBI36hg18NCBI36
Build 342158,418,468 - 158,520,298NCBI
Celera2152,206,070 - 152,344,336 (-)NCBI
Cytogenetic Map2q24.1NCBI
HuRef2150,478,249 - 150,616,526 (-)NCBIHuRef
CHM1_12158,598,894 - 158,738,243 (-)NCBICHM1_1
T2T-CHM13v2.02158,189,880 - 158,329,404 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activin receptor signaling pathway  (IDA,IEA,IMP)
acute inflammatory response  (IEA,ISO)
atrial septum primum morphogenesis  (IEA,IMP,ISS)
atrioventricular valve morphogenesis  (IEA,ISS)
BMP signaling pathway  (IBA,IDA)
BMP signaling pathway involved in heart development  (IEA,ISS)
branching involved in blood vessel morphogenesis  (IEA,ISO)
cardiac muscle cell fate commitment  (IMP)
cellular response to BMP stimulus  (IMP)
cellular response to glucocorticoid stimulus  (IEA,ISO)
cellular response to growth factor stimulus  (IBA)
determination of left/right symmetry  (IEA,ISO)
dorsal/ventral pattern formation  (IBA)
embryonic heart tube morphogenesis  (IMP)
endocardial cushion cell fate commitment  (IMP)
endocardial cushion fusion  (IEA,ISS)
endocardial cushion morphogenesis  (IEA,ISS)
gastrulation  (IEA,ISO)
gastrulation with mouth forming second  (IEA,ISO)
germ cell development  (IEA,ISO)
heart development  (IBA,IEA,ISO)
in utero embryonic development  (IEA,ISO)
mesoderm development  (IEA,ISO)
mesoderm formation  (IEA,ISO)
mitral valve morphogenesis  (IMP)
negative regulation of activin receptor signaling pathway  (IMP)
negative regulation of extrinsic apoptotic signaling pathway  (IMP)
negative regulation of G1/S transition of mitotic cell cycle  (IMP)
negative regulation of signal transduction  (IMP)
neural crest cell migration  (IEA,ISO)
outflow tract septum morphogenesis  (ISS)
pathway-restricted SMAD protein phosphorylation  (IDA)
peptidyl-threonine phosphorylation  (IDA)
pharyngeal system development  (IEA,ISO)
phosphorylation  (IEA)
positive regulation of bone mineralization  (IMP)
positive regulation of cell migration  (IGI)
positive regulation of determination of dorsal identity  (IDA)
positive regulation of DNA-templated transcription  (IDA)
positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation  (IEA,ISS)
positive regulation of osteoblast differentiation  (IMP)
positive regulation of pathway-restricted SMAD protein phosphorylation  (IDA,IEA,ISS)
positive regulation of peptidyl-tyrosine phosphorylation  (IMP)
positive regulation of transcription by RNA polymerase II  (IDA,IEA,IMP,ISS)
protein phosphorylation  (IBA,IDA,IEA)
regulation of macromolecule metabolic process  (IEA)
regulation of multicellular organismal process  (IEA)
regulation of nitrogen compound metabolic process  (IEA)
regulation of ossification  (IMP)
regulation of primary metabolic process  (IEA)
regulation of skeletal muscle tissue development  (IEA)
smooth muscle cell differentiation  (IEA,ISO)
transforming growth factor beta receptor signaling pathway  (IBA,IDA,IEA,ISO)
transmembrane receptor protein serine/threonine kinase signaling pathway  (IEA)
urogenital system development  (IEA,ISO)
ventricular septum morphogenesis  (IEA,ISS)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Ovarian follicle populations of the rat express TGF-beta signalling pathways. Drummond AE, etal., Mol Cell Endocrinol. 2003 Apr 28;202(1-2):53-7.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Concomitant over-expression of activin/inhibin beta subunits and their receptors in human pancreatic cancer. Kleeff J, etal., Int J Cancer. 1998 Sep 11;77(6):860-8.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. Loss of tubular bone morphogenetic protein-7 in diabetic nephropathy. Wang SN, etal., J Am Soc Nephrol. 2001 Nov;12(11):2392-9.
Additional References at PubMed
PMID:7791754   PMID:7890683   PMID:8006002   PMID:8242742   PMID:8248234   PMID:8389764   PMID:8397373   PMID:8555189   PMID:8599089   PMID:8612709   PMID:8622651   PMID:8702914  
PMID:9136927   PMID:9267036   PMID:9501322   PMID:9748228   PMID:9872992   PMID:9884026   PMID:10085121   PMID:10583507   PMID:10631143   PMID:10652350   PMID:10665670   PMID:11069203  
PMID:11266516   PMID:11969340   PMID:12032389   PMID:12065756   PMID:12477932   PMID:12651901   PMID:12702211   PMID:12857866   PMID:15489334   PMID:15611116   PMID:15671031   PMID:15761153  
PMID:16344560   PMID:16642017   PMID:17311849   PMID:17351709   PMID:17496924   PMID:17572636   PMID:18019378   PMID:18070108   PMID:18234825   PMID:18292470   PMID:18326817   PMID:18436533  
PMID:18684712   PMID:18830232   PMID:18854405   PMID:18952055   PMID:19028479   PMID:19064572   PMID:19085907   PMID:19148527   PMID:19299629   PMID:19300893   PMID:19330033   PMID:19335617  
PMID:19400542   PMID:19506109   PMID:19543505   PMID:19574343   PMID:19736306   PMID:19758997   PMID:19796185   PMID:19896889   PMID:19929436   PMID:19996292   PMID:20011542   PMID:20463014  
PMID:20577760   PMID:20634197   PMID:20663871   PMID:20677014   PMID:20716560   PMID:20734064   PMID:20736820   PMID:21248739   PMID:21297076   PMID:21377447   PMID:21617230   PMID:21668474  
PMID:21791611   PMID:21873635   PMID:21878751   PMID:22408438   PMID:22630080   PMID:22748444   PMID:22884369   PMID:22949078   PMID:22971142   PMID:22977237   PMID:23142694   PMID:23169291  
PMID:23227223   PMID:23260810   PMID:23455153   PMID:23918320   PMID:24047559   PMID:24162774   PMID:24347165   PMID:24705250   PMID:24705251   PMID:24705252   PMID:24705254   PMID:24798338  
PMID:24850914   PMID:25101911   PMID:25271001   PMID:25872870   PMID:26058333   PMID:26097044   PMID:26133550   PMID:26186194   PMID:26597752   PMID:26598555   PMID:26621707   PMID:26776312  
PMID:26869672   PMID:26871637   PMID:27182040   PMID:27256111   PMID:27503909   PMID:27530160   PMID:27565519   PMID:27713089   PMID:27959431   PMID:28075462   PMID:28126904   PMID:28319085  
PMID:28459464   PMID:28476747   PMID:28514442   PMID:28646109   PMID:28733457   PMID:28847510   PMID:29180619   PMID:29507755   PMID:29551750   PMID:29587443   PMID:29693185   PMID:29739878  
PMID:30159679   PMID:30819221   PMID:31240838   PMID:31432174   PMID:31483918   PMID:31685442   PMID:32142668   PMID:32235336   PMID:32273545   PMID:32281291   PMID:32437875   PMID:32448372  
PMID:32473755   PMID:32512165   PMID:32525643   PMID:32641001   PMID:33089331   PMID:33443061   PMID:33766507   PMID:33845483   PMID:33961781   PMID:33973349   PMID:34003511   PMID:34013359  
PMID:34311122   PMID:34400635   PMID:34490965   PMID:34755602   PMID:34854557   PMID:35236255  


Genomics

Comparative Map Data
ACVR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382157,736,446 - 157,876,330 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2157,736,251 - 157,876,330 (-)EnsemblGRCh38hg38GRCh38
GRCh372158,592,958 - 158,732,842 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362158,301,207 - 158,403,036 (-)NCBINCBI36hg18NCBI36
Build 342158,418,468 - 158,520,298NCBI
Celera2152,206,070 - 152,344,336 (-)NCBI
Cytogenetic Map2q24.1NCBI
HuRef2150,478,249 - 150,616,526 (-)NCBIHuRef
CHM1_12158,598,894 - 158,738,243 (-)NCBICHM1_1
T2T-CHM13v2.02158,189,880 - 158,329,404 (-)NCBI
Acvr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39258,336,450 - 58,456,840 (-)NCBIGRCm39mm39
GRCm39 Ensembl258,278,656 - 58,457,169 (-)Ensembl
GRCm38258,446,438 - 58,566,828 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl258,388,644 - 58,567,157 (-)EnsemblGRCm38mm10GRCm38
MGSCv37258,298,849 - 58,419,239 (-)NCBIGRCm37mm9NCBIm37
MGSCv36258,261,824 - 58,331,545 (-)NCBImm8
Celera260,202,316 - 60,294,260 (-)NCBICelera
Cytogenetic Map2C1.1NCBI
Acvr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2342,978,558 - 43,097,892 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl342,978,561 - 43,098,241 (-)Ensembl
Rnor_6.0344,432,476 - 44,539,680 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl344,432,471 - 44,522,930 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0349,551,411 - 49,641,517 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4340,191,727 - 40,260,488 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1340,088,098 - 40,156,860 (-)NCBI
Celera341,046,965 - 41,113,654 (-)NCBICelera
Cytogenetic Map3q21NCBI
Acvr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544915,640,230 - 15,708,694 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544915,587,958 - 15,706,432 (+)NCBIChiLan1.0ChiLan1.0
ACVR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B162,234,823 - 162,372,533 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B162,234,823 - 162,297,805 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B44,994,175 - 45,133,490 (-)NCBIMhudiblu_PPA_v0panPan3
ACVR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1363,743,257 - 3,818,659 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl363,744,163 - 3,818,652 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha363,880,162 - 4,006,562 (-)NCBI
ROS_Cfam_1.0363,865,484 - 3,991,973 (-)NCBI
ROS_Cfam_1.0 Ensembl363,865,493 - 3,946,584 (-)Ensembl
UMICH_Zoey_3.1363,867,397 - 3,993,826 (-)NCBI
UNSW_CanFamBas_1.0363,927,214 - 4,053,637 (-)NCBI
UU_Cfam_GSD_1.0363,965,356 - 4,091,837 (-)NCBI
Acvr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303120,806,153 - 120,874,529 (-)NCBI
SpeTri2.0NW_00493646920,743,195 - 20,811,567 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACVR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1564,750,796 - 64,891,544 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11564,749,478 - 64,891,653 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21571,681,467 - 71,823,490 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ACVR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11043,139,396 - 43,281,024 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1043,139,528 - 43,281,177 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666040156,293,920 - 156,435,319 (+)NCBIVero_WHO_p1.0
Acvr1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247327,929,583 - 8,005,072 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046247327,929,997 - 8,004,235 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D4S1625  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374143,500,955 - 143,501,150UniSTSGRCh37
Build 364143,720,405 - 143,720,600RGDNCBI36
Celera4140,831,728 - 140,831,923RGD
Cytogenetic Map2q23-q24UniSTS
Cytogenetic Map4q31.21UniSTS
HuRef4139,230,010 - 139,230,205UniSTS
Marshfield Genetic Map4145.98UniSTS
Marshfield Genetic Map4145.98RGD
TNG Radiation Hybrid Map497031.0UniSTS
deCODE Assembly Map4140.08UniSTS
Stanford-G3 RH Map47911.0UniSTS
Whitehead-RH Map4669.6UniSTS
Whitehead-YAC Contig Map4 UniSTS
D4S2417  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q23-q24UniSTS
Marshfield Genetic Map4181.93UniSTS
Marshfield Genetic Map4181.93RGD
deCODE Assembly Map4176.31UniSTS
Whitehead-RH Map4739.7UniSTS
Whitehead-YAC Contig Map4 UniSTS
NCBI RH Map41770.6UniSTS
D2S284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372158,651,723 - 158,651,964UniSTSGRCh37
GRCh372158,651,731 - 158,651,992UniSTSGRCh37
Build 362158,359,969 - 158,360,210RGDNCBI36
Celera2152,264,844 - 152,265,099UniSTS
Celera2152,264,836 - 152,265,071RGD
Cytogenetic Map2q23-q24UniSTS
HuRef2150,537,005 - 150,537,240UniSTS
HuRef2150,537,013 - 150,537,268UniSTS
Marshfield Genetic Map2161.81UniSTS
Marshfield Genetic Map2161.81RGD
Genethon Genetic Map2167.0UniSTS
TNG Radiation Hybrid Map290099.0UniSTS
Stanford-G3 RH Map26525.0UniSTS
GeneMap99-GB4 RH Map2523.33UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map21116.4UniSTS
GeneMap99-G3 RH Map27386.0UniSTS
D2S2000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372158,593,552 - 158,593,877UniSTSGRCh37
Build 362158,301,798 - 158,302,123RGDNCBI36
Celera2152,206,664 - 152,206,989RGD
Cytogenetic Map2q23-q24UniSTS
HuRef2150,478,843 - 150,479,168UniSTS
GeneMap99-GB4 RH Map2540.78UniSTS
Whitehead-RH Map2803.4UniSTS
Whitehead-YAC Contig Map2 UniSTS
RH70974  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372158,593,846 - 158,593,991UniSTSGRCh37
Build 362158,302,092 - 158,302,237RGDNCBI36
Celera2152,206,958 - 152,207,103RGD
Cytogenetic Map2q23-q24UniSTS
HuRef2150,479,137 - 150,479,282UniSTS
GeneMap99-GB4 RH Map2523.33UniSTS
NCBI RH Map21116.4UniSTS
SHGC-78610  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372158,601,148 - 158,601,436UniSTSGRCh37
Build 362158,309,394 - 158,309,682RGDNCBI36
Celera2152,214,260 - 152,214,548RGD
Cytogenetic Map2q23-q24UniSTS
HuRef2150,486,439 - 150,486,727UniSTS
TNG Radiation Hybrid Map290059.0UniSTS
SHGC-89211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372158,680,074 - 158,680,382UniSTSGRCh37
Build 362158,388,320 - 158,388,628RGDNCBI36
Celera2152,293,178 - 152,293,486RGD
Cytogenetic Map2q23-q24UniSTS
HuRef2150,565,348 - 150,565,654UniSTS
TNG Radiation Hybrid Map290087.0UniSTS
RH69582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372158,721,637 - 158,721,795UniSTSGRCh37
Build 362158,429,883 - 158,430,041RGDNCBI36
Celera2152,334,346 - 152,334,504RGD
Cytogenetic Map2q23-q24UniSTS
HuRef2150,606,536 - 150,606,694UniSTS
GeneMap99-GB4 RH Map2521.12UniSTS
NCBI RH Map21116.4UniSTS
D2S1294  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372158,594,483 - 158,594,788UniSTSGRCh37
Build 362158,302,729 - 158,303,034RGDNCBI36
Celera2152,207,595 - 152,207,900RGD
Cytogenetic Map2q23-q24UniSTS
HuRef2150,479,774 - 150,480,079UniSTS
Whitehead-YAC Contig Map2 UniSTS
RH68903  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372158,593,091 - 158,593,249UniSTSGRCh37
Build 362158,301,337 - 158,301,495RGDNCBI36
Celera2152,206,203 - 152,206,361RGD
Cytogenetic Map2q23-q24UniSTS
HuRef2150,478,382 - 150,478,540UniSTS
GeneMap99-GB4 RH Map2521.12UniSTS
NCBI RH Map21116.4UniSTS
MARC_1909-1910:991931646:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372158,593,591 - 158,593,791UniSTSGRCh37
Build 362158,301,837 - 158,302,037RGDNCBI36
Celera2152,206,703 - 152,206,903RGD
HuRef2150,478,882 - 150,479,082UniSTS
ACVR1_4033  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372158,592,788 - 158,593,585UniSTSGRCh37
Build 362158,301,034 - 158,301,831RGDNCBI36
Celera2152,205,900 - 152,206,697RGD
HuRef2150,478,079 - 150,478,876UniSTS
D2S284  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q23-q24UniSTS
TNG Radiation Hybrid Map290099.0UniSTS
Stanford-G3 RH Map26525.0UniSTS
GeneMap99-GB4 RH Map2523.33UniSTS
NCBI RH Map21116.4UniSTS
GeneMap99-G3 RH Map27386.0UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR148Ahsa-miR-148a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22408438

Predicted Target Of
Summary Value
Count of predictions:3104
Count of miRNA genes:811
Interacting mature miRNAs:958
Transcripts:ENST00000263640, ENST00000409283, ENST00000410057, ENST00000412025, ENST00000413751, ENST00000424669, ENST00000434821, ENST00000440523, ENST00000487456, ENST00000539637
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1858 1660 1243 336 240 193 3646 1146 1377 334 1024 1564 157 1176 2141 2
Low 580 1288 483 288 1447 272 710 1050 2356 85 436 49 18 1 28 647 4 2
Below cutoff 1 43 239 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001111067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A38807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC013731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC019186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA796090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB270850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB448223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM015588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM873050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L02911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z22534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000263640   ⟹   ENSP00000263640
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,736,444 - 157,875,111 (-)Ensembl
RefSeq Acc Id: ENST00000409283   ⟹   ENSP00000387273
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,736,449 - 157,806,996 (-)Ensembl
RefSeq Acc Id: ENST00000410057   ⟹   ENSP00000387127
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,737,316 - 157,838,278 (-)Ensembl
RefSeq Acc Id: ENST00000412025   ⟹   ENSP00000403006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,780,406 - 157,838,327 (-)Ensembl
RefSeq Acc Id: ENST00000413751   ⟹   ENSP00000399322
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,799,429 - 157,875,840 (-)Ensembl
RefSeq Acc Id: ENST00000424669   ⟹   ENSP00000400767
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,736,521 - 157,875,862 (-)Ensembl
RefSeq Acc Id: ENST00000434821   ⟹   ENSP00000405004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,736,446 - 157,876,330 (-)Ensembl
RefSeq Acc Id: ENST00000440523   ⟹   ENSP00000401189
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,780,408 - 157,875,626 (-)Ensembl
RefSeq Acc Id: ENST00000487456
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,778,150 - 157,790,237 (-)Ensembl
RefSeq Acc Id: ENST00000539637   ⟹   ENSP00000440091
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,736,622 - 157,875,840 (-)Ensembl
RefSeq Acc Id: ENST00000672582   ⟹   ENSP00000500605
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,736,503 - 157,875,820 (-)Ensembl
RefSeq Acc Id: ENST00000673324   ⟹   ENSP00000500109
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,736,503 - 157,875,820 (-)Ensembl
RefSeq Acc Id: ENST00000681995
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,736,446 - 157,761,742 (-)Ensembl
RefSeq Acc Id: ENST00000682025   ⟹   ENSP00000507086
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,736,251 - 157,875,065 (-)Ensembl
RefSeq Acc Id: ENST00000682300   ⟹   ENSP00000507102
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,736,251 - 157,875,065 (-)Ensembl
RefSeq Acc Id: ENST00000682690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,736,444 - 157,792,853 (-)Ensembl
RefSeq Acc Id: ENST00000683404   ⟹   ENSP00000506824
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,736,446 - 157,875,065 (-)Ensembl
RefSeq Acc Id: ENST00000683426   ⟹   ENSP00000507597
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,736,446 - 157,875,065 (-)Ensembl
RefSeq Acc Id: ENST00000683441   ⟹   ENSP00000508189
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,736,444 - 157,875,065 (-)Ensembl
RefSeq Acc Id: ENST00000683487   ⟹   ENSP00000507113
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,736,251 - 157,875,065 (-)Ensembl
RefSeq Acc Id: ENST00000683514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,736,446 - 157,741,654 (-)Ensembl
RefSeq Acc Id: ENST00000683820   ⟹   ENSP00000507727
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,736,461 - 157,875,065 (-)Ensembl
RefSeq Acc Id: ENST00000684104
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,736,446 - 157,771,365 (-)Ensembl
RefSeq Acc Id: ENST00000684348   ⟹   ENSP00000508136
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,736,461 - 157,875,880 (-)Ensembl
RefSeq Acc Id: ENST00000684567
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,736,446 - 157,764,437 (-)Ensembl
RefSeq Acc Id: ENST00000684595   ⟹   ENSP00000507730
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,736,444 - 157,875,065 (-)Ensembl
RefSeq Acc Id: NM_001105   ⟹   NP_001096
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382157,736,446 - 157,874,999 (-)NCBI
GRCh372158,592,958 - 158,732,374 (-)ENTREZGENE
Build 362158,301,207 - 158,403,036 (-)NCBI Archive
HuRef2150,478,249 - 150,616,526 (-)ENTREZGENE
CHM1_12158,598,894 - 158,737,494 (-)NCBI
T2T-CHM13v2.02158,189,880 - 158,328,075 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001111067   ⟹   NP_001104537
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382157,736,446 - 157,876,330 (-)NCBI
GRCh372158,592,958 - 158,732,374 (-)ENTREZGENE
HuRef2150,478,249 - 150,616,526 (-)ENTREZGENE
CHM1_12158,598,894 - 158,738,243 (-)NCBI
T2T-CHM13v2.02158,189,880 - 158,329,404 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001347663   ⟹   NP_001334592
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382157,736,446 - 157,875,862 (-)NCBI
T2T-CHM13v2.02158,189,880 - 158,328,936 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001347664   ⟹   NP_001334593
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382157,736,446 - 157,875,862 (-)NCBI
T2T-CHM13v2.02158,189,880 - 158,328,936 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001347665   ⟹   NP_001334594
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382157,736,446 - 157,875,862 (-)NCBI
T2T-CHM13v2.02158,189,880 - 158,328,936 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001347666   ⟹   NP_001334595
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382157,736,446 - 157,875,862 (-)NCBI
T2T-CHM13v2.02158,189,880 - 158,328,936 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001347667   ⟹   NP_001334596
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382157,736,446 - 157,838,630 (-)NCBI
T2T-CHM13v2.02158,189,880 - 158,292,036 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001096 (Get FASTA)   NCBI Sequence Viewer  
  NP_001104537 (Get FASTA)   NCBI Sequence Viewer  
  NP_001334592 (Get FASTA)   NCBI Sequence Viewer  
  NP_001334593 (Get FASTA)   NCBI Sequence Viewer  
  NP_001334594 (Get FASTA)   NCBI Sequence Viewer  
  NP_001334595 (Get FASTA)   NCBI Sequence Viewer  
  NP_001334596 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36614 (Get FASTA)   NCBI Sequence Viewer  
  AAH33867 (Get FASTA)   NCBI Sequence Viewer  
  AAY15094 (Get FASTA)   NCBI Sequence Viewer  
  AAY24272 (Get FASTA)   NCBI Sequence Viewer  
  ADL14509 (Get FASTA)   NCBI Sequence Viewer  
  AJF45349 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33343 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33344 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33345 (Get FASTA)   NCBI Sequence Viewer  
  BAG60113 (Get FASTA)   NCBI Sequence Viewer  
  CAA02405 (Get FASTA)   NCBI Sequence Viewer  
  CAA80256 (Get FASTA)   NCBI Sequence Viewer  
  CAZ91465 (Get FASTA)   NCBI Sequence Viewer  
  CBX47654 (Get FASTA)   NCBI Sequence Viewer  
  EAX11438 (Get FASTA)   NCBI Sequence Viewer  
  EAX11439 (Get FASTA)   NCBI Sequence Viewer  
  EAX11440 (Get FASTA)   NCBI Sequence Viewer  
  EAX11441 (Get FASTA)   NCBI Sequence Viewer  
  EAX11442 (Get FASTA)   NCBI Sequence Viewer  
  EAX11443 (Get FASTA)   NCBI Sequence Viewer  
  Q04771 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001096   ⟸   NM_001105
- Peptide Label: precursor
- UniProtKB: Q04771 (UniProtKB/Swiss-Prot),   D3DPA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001104537   ⟸   NM_001111067
- Peptide Label: precursor
- UniProtKB: Q04771 (UniProtKB/Swiss-Prot),   D3DPA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334594   ⟸   NM_001347665
- Peptide Label: precursor
- UniProtKB: Q04771 (UniProtKB/Swiss-Prot),   D3DPA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334593   ⟸   NM_001347664
- Peptide Label: precursor
- UniProtKB: Q04771 (UniProtKB/Swiss-Prot),   D3DPA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334595   ⟸   NM_001347666
- Peptide Label: precursor
- UniProtKB: Q04771 (UniProtKB/Swiss-Prot),   D3DPA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334592   ⟸   NM_001347663
- Peptide Label: precursor
- UniProtKB: Q04771 (UniProtKB/Swiss-Prot),   D3DPA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334596   ⟸   NM_001347667
- Peptide Label: precursor
- UniProtKB: Q04771 (UniProtKB/Swiss-Prot),   D3DPA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000500109   ⟸   ENST00000673324
RefSeq Acc Id: ENSP00000387127   ⟸   ENST00000410057
RefSeq Acc Id: ENSP00000400767   ⟸   ENST00000424669
RefSeq Acc Id: ENSP00000403006   ⟸   ENST00000412025
RefSeq Acc Id: ENSP00000399322   ⟸   ENST00000413751
RefSeq Acc Id: ENSP00000401189   ⟸   ENST00000440523
RefSeq Acc Id: ENSP00000440091   ⟸   ENST00000539637
RefSeq Acc Id: ENSP00000405004   ⟸   ENST00000434821
RefSeq Acc Id: ENSP00000387273   ⟸   ENST00000409283
RefSeq Acc Id: ENSP00000263640   ⟸   ENST00000263640
RefSeq Acc Id: ENSP00000500605   ⟸   ENST00000672582
RefSeq Acc Id: ENSP00000507102   ⟸   ENST00000682300
RefSeq Acc Id: ENSP00000508136   ⟸   ENST00000684348
RefSeq Acc Id: ENSP00000508189   ⟸   ENST00000683441
RefSeq Acc Id: ENSP00000507730   ⟸   ENST00000684595
RefSeq Acc Id: ENSP00000507727   ⟸   ENST00000683820
RefSeq Acc Id: ENSP00000507086   ⟸   ENST00000682025
RefSeq Acc Id: ENSP00000506824   ⟸   ENST00000683404
RefSeq Acc Id: ENSP00000507113   ⟸   ENST00000683487
RefSeq Acc Id: ENSP00000507597   ⟸   ENST00000683426
Protein Domains
GS   Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q04771-F1-model_v2 AlphaFold Q04771 1-509 view protein structure

Promoters
RGD ID:6861802
Promoter ID:EPDNEW_H4066
Type:initiation region
Name:ACVR1_2
Description:activin A receptor type 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4067  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382157,875,840 - 157,875,900EPDNEW
RGD ID:6861804
Promoter ID:EPDNEW_H4067
Type:initiation region
Name:ACVR1_1
Description:activin A receptor type 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4066  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382157,876,330 - 157,876,390EPDNEW
RGD ID:6796734
Promoter ID:HG_KWN:35516
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000332973,   UC002TZM.2
Position:
Human AssemblyChrPosition (strand)Source
Build 362158,402,876 - 158,404,027 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His) single nucleotide variant Epicanthal fold [RCV001823099]|Inborn genetic diseases [RCV001267285]|Progressive myositis ossificans [RCV000019971]|not provided [RCV000422441] Chr2:157774114 [GRCh38]
Chr2:158630626 [GRCh37]
Chr2:2q24.1
pathogenic
NM_001111067.4(ACVR1):c.1067G>A (p.Gly356Asp) single nucleotide variant Progressive myositis ossificans [RCV000019972]|not provided [RCV001851956] Chr2:157761077 [GRCh38]
Chr2:158617589 [GRCh37]
Chr2:2q24.1
pathogenic
NM_001111067.4(ACVR1):c.774G>C (p.Arg258Ser) single nucleotide variant Progressive myositis ossificans [RCV000019973] Chr2:157770384 [GRCh38]
Chr2:158626896 [GRCh37]
Chr2:2q24.1
pathogenic
NM_001111067.4(ACVR1):c.982G>A (p.Gly328Arg) single nucleotide variant Progressive myositis ossificans [RCV000022430] Chr2:157766005 [GRCh38]
Chr2:158622517 [GRCh37]
Chr2:2q24.1
pathogenic
NM_001111067.4(ACVR1):c.982G>T (p.Gly328Trp) single nucleotide variant Progressive myositis ossificans [RCV000022431] Chr2:157766005 [GRCh38]
Chr2:158622517 [GRCh37]
Chr2:2q24.1
pathogenic
NM_001111067.4(ACVR1):c.983G>A (p.Gly328Glu) single nucleotide variant Brainstem glioma [RCV000434306]|Inborn genetic diseases [RCV000624246]|Progressive myositis ossificans [RCV000022432] Chr2:157766004 [GRCh38]
Chr2:158622516 [GRCh37]
Chr2:2q24.1
pathogenic|likely pathogenic
NM_001111067.4(ACVR1):c.1124G>C (p.Arg375Pro) single nucleotide variant Progressive myositis ossificans [RCV000022433] Chr2:157761020 [GRCh38]
Chr2:158617532 [GRCh37]
Chr2:2q24.1
pathogenic
NM_001111067.4(ACVR1):c.605G>T (p.Arg202Ile) single nucleotide variant Progressive myositis ossificans [RCV000022434] Chr2:157774126 [GRCh38]
Chr2:158630638 [GRCh37]
Chr2:2q24.1
pathogenic
NM_001111067.4(ACVR1):c.1521dup (p.Asp508Ter) duplication not provided [RCV000520774] Chr2:157737539..157737540 [GRCh38]
Chr2:158594051..158594052 [GRCh37]
Chr2:2q24.1
uncertain significance
GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3 copy number gain See cases [RCV000052950] Chr2:154366788..167048902 [GRCh38]
Chr2:155223300..167905412 [GRCh37]
Chr2:154931546..167613658 [NCBI36]
Chr2:2q24.1-24.3
pathogenic
GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1 copy number loss See cases [RCV000054090] Chr2:147251948..157856378 [GRCh38]
Chr2:148009516..158712890 [GRCh37]
Chr2:147725986..158421136 [NCBI36]
Chr2:2q22.3-24.1
pathogenic
GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1 copy number loss See cases [RCV000054093] Chr2:148917286..163204623 [GRCh38]
Chr2:149674855..164061133 [GRCh37]
Chr2:149391325..163769379 [NCBI36]
Chr2:2q23.1-24.3
pathogenic
GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3 copy number gain See cases [RCV000135402] Chr2:143900149..158321624 [GRCh38]
Chr2:144657717..159178136 [GRCh37]
Chr2:144374187..158886382 [NCBI36]
Chr2:2q22.3-24.1
pathogenic
GRCh38/hg38 2q24.1(chr2:157418173-158277521)x1 copy number loss See cases [RCV000142260] Chr2:157418173..158277521 [GRCh38]
Chr2:158274685..159134033 [GRCh37]
Chr2:157982931..158842279 [NCBI36]
Chr2:2q24.1
uncertain significance
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 copy number gain See cases [RCV000142286] Chr2:154294042..175989372 [GRCh38]
Chr2:155150555..176854100 [GRCh37]
Chr2:154858801..176562346 [NCBI36]
Chr2:2q24.1-31.1
pathogenic
GRCh38/hg38 2q23.3-24.1(chr2:153609714-158185125)x1 copy number loss See cases [RCV000142963] Chr2:153609714..158185125 [GRCh38]
Chr2:154466227..159041637 [GRCh37]
Chr2:154174473..158749883 [NCBI36]
Chr2:2q23.3-24.1
pathogenic
GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1 copy number loss See cases [RCV000142664] Chr2:151932344..159419734 [GRCh38]
Chr2:152788858..160276245 [GRCh37]
Chr2:152497104..159984491 [NCBI36]
Chr2:2q23.3-24.2
pathogenic|likely pathogenic
NM_001111067.4(ACVR1):c.141C>G (p.His47Gln) single nucleotide variant Progressive myositis ossificans [RCV000406342]|not provided [RCV000885757] Chr2:157780527 [GRCh38]
Chr2:158637039 [GRCh37]
Chr2:2q24.1
benign|likely benign
NM_001111067.4(ACVR1):c.772A>G (p.Arg258Gly) single nucleotide variant Brainstem glioma [RCV000437179]|Gastric adenocarcinoma [RCV000426913]|Progressive myositis ossificans [RCV000198218] Chr2:157770386 [GRCh38]
Chr2:158626898 [GRCh37]
Chr2:2q24.1
likely pathogenic
NM_001111067.4(ACVR1):c.587T>C (p.Leu196Pro) single nucleotide variant Progressive myositis ossificans [RCV000190876] Chr2:157774144 [GRCh38]
Chr2:158630656 [GRCh37]
Chr2:2q24.1
pathogenic
NM_001111067.4(ACVR1):c.643+7C>T single nucleotide variant Progressive myositis ossificans [RCV000286059]|not provided [RCV000888454] Chr2:157774081 [GRCh38]
Chr2:158630593 [GRCh37]
Chr2:2q24.1
benign|likely benign
NM_001111067.4(ACVR1):c.820C>T (p.His274Tyr) single nucleotide variant Progressive myositis ossificans [RCV000266265] Chr2:157766167 [GRCh38]
Chr2:158622679 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.1506C>T (p.Leu502=) single nucleotide variant Progressive myositis ossificans [RCV000269772]|not provided [RCV000913636] Chr2:157737555 [GRCh38]
Chr2:158594067 [GRCh37]
Chr2:2q24.1
benign|likely benign
NM_001111067.4(ACVR1):c.450A>G (p.Lys150=) single nucleotide variant Progressive myositis ossificans [RCV000282526]|not provided [RCV002057575] Chr2:157778224 [GRCh38]
Chr2:158634736 [GRCh37]
Chr2:2q24.1
benign|likely benign|uncertain significance
NM_001111067.4(ACVR1):c.644-3T>C single nucleotide variant Progressive myositis ossificans [RCV000380547] Chr2:157770517 [GRCh38]
Chr2:158627029 [GRCh37]
Chr2:2q24.1
likely benign|uncertain significance
NM_001111067.4(ACVR1):c.1086C>A (p.Ser362=) single nucleotide variant Progressive myositis ossificans [RCV000383582]|not provided [RCV000970602] Chr2:157761058 [GRCh38]
Chr2:158617570 [GRCh37]
Chr2:2q24.1
benign|likely benign
NM_001111067.4(ACVR1):c.1513T>C (p.Leu505=) single nucleotide variant Progressive myositis ossificans [RCV000364294]|not provided [RCV000973468] Chr2:157737548 [GRCh38]
Chr2:158594060 [GRCh37]
Chr2:2q24.1
benign
Single allele deletion Autism spectrum disorder [RCV000225489] Chr2:154507239..157810705 [GRCh38]
Chr2:155363751..158667217 [GRCh37]
Chr2:2q24.1
likely pathogenic
NM_001111067.4(ACVR1):c.1131C>T (p.Gly377=) single nucleotide variant Progressive myositis ossificans [RCV000329534]|not provided [RCV000958572] Chr2:157761013 [GRCh38]
Chr2:158617525 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.561G>A (p.Ser187=) single nucleotide variant Progressive myositis ossificans [RCV000336429]|not provided [RCV000930471] Chr2:157774170 [GRCh38]
Chr2:158630682 [GRCh37]
Chr2:2q24.1
likely benign|uncertain significance
NM_001111067.4(ACVR1):c.99C>T (p.Tyr33=) single nucleotide variant Progressive myositis ossificans [RCV000314629]|not provided [RCV002057576] Chr2:157780569 [GRCh38]
Chr2:158637081 [GRCh37]
Chr2:2q24.1
benign|likely benign
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 copy number gain See cases [RCV000239848] Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3
pathogenic
NM_001111067.4(ACVR1):c.44C>G (p.Ala15Gly) single nucleotide variant Progressive myositis ossificans [RCV000350817]|not provided [RCV002057444]|not specified [RCV000243523] Chr2:157799450 [GRCh38]
Chr2:158655962 [GRCh37]
Chr2:2q24.1
benign|likely benign
NM_001111067.4(ACVR1):c.*421G>A single nucleotide variant Progressive myositis ossificans [RCV000286536] Chr2:157737110 [GRCh38]
Chr2:158593622 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.270C>T (p.Ala90=) single nucleotide variant Progressive myositis ossificans [RCV000349595]|not provided [RCV001538220]|not specified [RCV000251311] Chr2:157780398 [GRCh38]
Chr2:158636910 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.690G>A (p.Glu230=) single nucleotide variant Progressive myositis ossificans [RCV000321286]|not provided [RCV001651150]|not specified [RCV000246664] Chr2:157770468 [GRCh38]
Chr2:158626980 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.-183+919A>G single nucleotide variant Progressive myositis ossificans [RCV000271195] Chr2:157874877 [GRCh38]
Chr2:158731389 [GRCh37]
Chr2:2q24.1
benign|likely benign
NM_001111067.4(ACVR1):c.*47C>T single nucleotide variant Progressive myositis ossificans [RCV000277831] Chr2:157737484 [GRCh38]
Chr2:158593996 [GRCh37]
Chr2:2q24.1
benign|likely benign
NM_001111067.4(ACVR1):c.*45G>T single nucleotide variant Progressive myositis ossificans [RCV000314327]|not provided [RCV001683328] Chr2:157737486 [GRCh38]
Chr2:158593998 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.-13A>G single nucleotide variant Progressive myositis ossificans [RCV000402823] Chr2:157818390 [GRCh38]
Chr2:158674902 [GRCh37]
Chr2:2q24.1
benign|uncertain significance
NM_001111067.4(ACVR1):c.*183G>A single nucleotide variant Progressive myositis ossificans [RCV000404869] Chr2:157737348 [GRCh38]
Chr2:158593860 [GRCh37]
Chr2:2q24.1
benign|likely benign
NM_001111067.4(ACVR1):c.*686T>C single nucleotide variant Progressive myositis ossificans [RCV000340238] Chr2:157736845 [GRCh38]
Chr2:158593357 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.*711A>G single nucleotide variant Progressive myositis ossificans [RCV000289975] Chr2:157736820 [GRCh38]
Chr2:158593332 [GRCh37]
Chr2:2q24.1
likely benign|uncertain significance
NM_001111067.4(ACVR1):c.*358G>A single nucleotide variant Progressive myositis ossificans [RCV000341239] Chr2:157737173 [GRCh38]
Chr2:158593685 [GRCh37]
Chr2:2q24.1
benign|likely benign
NM_001111067.4(ACVR1):c.*762A>G single nucleotide variant Progressive myositis ossificans [RCV000384470] Chr2:157736769 [GRCh38]
Chr2:158593281 [GRCh37]
Chr2:2q24.1
benign|likely benign
NM_001111067.4(ACVR1):c.-53C>T single nucleotide variant Progressive myositis ossificans [RCV000306452] Chr2:157818430 [GRCh38]
Chr2:158674942 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.*791A>T single nucleotide variant Progressive myositis ossificans [RCV000325194] Chr2:157736740 [GRCh38]
Chr2:158593252 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.-55C>T single nucleotide variant Progressive myositis ossificans [RCV000365768] Chr2:157818432 [GRCh38]
Chr2:158674944 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.*138G>A single nucleotide variant Progressive myositis ossificans [RCV000367649]|not provided [RCV001653609] Chr2:157737393 [GRCh38]
Chr2:158593905 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.*314A>C single nucleotide variant Progressive myositis ossificans [RCV000390724] Chr2:157737217 [GRCh38]
Chr2:158593729 [GRCh37]
Chr2:2q24.1
likely benign|uncertain significance
NM_001111067.4(ACVR1):c.*152G>A single nucleotide variant Progressive myositis ossificans [RCV000313104] Chr2:157737379 [GRCh38]
Chr2:158593891 [GRCh37]
Chr2:2q24.1
benign|likely benign
NM_001111067.4(ACVR1):c.1392C>G (p.Asp464Glu) single nucleotide variant not provided [RCV000399910] Chr2:157738443 [GRCh38]
Chr2:158594955 [GRCh37]
Chr2:2q24.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001111067.4(ACVR1):c.*250C>G single nucleotide variant Progressive myositis ossificans [RCV000297028] Chr2:157737281 [GRCh38]
Chr2:158593793 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.*210A>C single nucleotide variant Progressive myositis ossificans [RCV000337914] Chr2:157737321 [GRCh38]
Chr2:158593833 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.543+2dup duplication Progressive myositis ossificans [RCV000372294] Chr2:157778128..157778129 [GRCh38]
Chr2:158634640..158634641 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.*1036del deletion Progressive myositis ossificans [RCV000289015] Chr2:157736495 [GRCh38]
Chr2:158593007 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.*500G>A single nucleotide variant Progressive myositis ossificans [RCV000376312] Chr2:157737031 [GRCh38]
Chr2:158593543 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.983G>T (p.Gly328Val) single nucleotide variant Brainstem glioma [RCV000445088]|Diffuse intrinsic pontine glioma [RCV001030019] Chr2:157766004 [GRCh38]
Chr2:158622516 [GRCh37]
Chr2:2q24.1
likely pathogenic|other
NM_001111067.4(ACVR1):c.773G>T (p.Arg258Met) single nucleotide variant Brainstem glioma [RCV000444963]|Gastric adenocarcinoma [RCV000426291] Chr2:157770385 [GRCh38]
Chr2:158626897 [GRCh37]
Chr2:2q24.1
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001111067.4(ACVR1):c.1198A>G (p.Lys400Glu) single nucleotide variant not provided [RCV000478819] Chr2:157760946 [GRCh38]
Chr2:158617458 [GRCh37]
Chr2:2q24.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3
drug response
GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1 copy number loss See cases [RCV000512264] Chr2:157970774..169270675 [GRCh37]
Chr2:2q24.1-24.3
pathogenic
NM_001111067.4(ACVR1):c.638G>A (p.Cys213Tyr) single nucleotide variant not provided [RCV000658878] Chr2:157774093 [GRCh38]
Chr2:158630605 [GRCh37]
Chr2:2q24.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3 copy number gain not provided [RCV000740654] Chr2:152409978..179325736 [GRCh37]
Chr2:2q23.3-31.2
pathogenic
NM_001111067.4(ACVR1):c.68-26T>C single nucleotide variant not provided [RCV001665851] Chr2:157780626 [GRCh38]
Chr2:158637138 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.876C>T (p.Tyr292=) single nucleotide variant not provided [RCV000940597] Chr2:157766111 [GRCh38]
Chr2:158622623 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.68-25T>C single nucleotide variant Progressive myositis ossificans [RCV001548955]|not provided [RCV001615293] Chr2:157780625 [GRCh38]
Chr2:158637137 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.521A>G (p.Asn174Ser) single nucleotide variant not provided [RCV000997244] Chr2:157778153 [GRCh38]
Chr2:158634665 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.-183+822G>A single nucleotide variant Progressive myositis ossificans [RCV001134598] Chr2:157874974 [GRCh38]
Chr2:158731486 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.27T>C (p.Pro9=) single nucleotide variant not provided [RCV000926489] Chr2:157799467 [GRCh38]
Chr2:158655979 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.68-6T>C single nucleotide variant not provided [RCV000922121] Chr2:157780606 [GRCh38]
Chr2:158637118 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.1509C>T (p.Asp503=) single nucleotide variant not provided [RCV000920468] Chr2:157737552 [GRCh38]
Chr2:158594064 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.127G>A (p.Gly43Ser) single nucleotide variant not provided [RCV000921289] Chr2:157780541 [GRCh38]
Chr2:158637053 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.618C>G (p.Arg206=) single nucleotide variant not provided [RCV000887689] Chr2:157774113 [GRCh38]
Chr2:158630625 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.1395+5G>A single nucleotide variant Progressive myositis ossificans [RCV001136459]|not provided [RCV000925810] Chr2:157738435 [GRCh38]
Chr2:158594947 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.1449C>T (p.Ser483=) single nucleotide variant not provided [RCV000941500] Chr2:157737612 [GRCh38]
Chr2:158594124 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.1242G>A (p.Val414=) single nucleotide variant not provided [RCV000997241] Chr2:157760902 [GRCh38]
Chr2:158617414 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.126C>T (p.Cys42=) single nucleotide variant Progressive myositis ossificans [RCV001132196] Chr2:157780542 [GRCh38]
Chr2:158637054 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.484G>A (p.Val162Met) single nucleotide variant Progressive myositis ossificans [RCV001132195]|not provided [RCV001856707] Chr2:157778190 [GRCh38]
Chr2:158634702 [GRCh37]
Chr2:2q24.1
benign|uncertain significance
NM_001111067.4(ACVR1):c.634G>C (p.Glu212Gln) single nucleotide variant not provided [RCV001091993] Chr2:157774097 [GRCh38]
Chr2:158630609 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.1178T>G (p.Val393Gly) single nucleotide variant not provided [RCV000997242] Chr2:157760966 [GRCh38]
Chr2:158617478 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.122C>T (p.Ser41Phe) single nucleotide variant Progressive myositis ossificans [RCV001133126]|not provided [RCV001856716] Chr2:157780546 [GRCh38]
Chr2:158637058 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.324C>T (p.Pro108=) single nucleotide variant not provided [RCV000914250] Chr2:157780344 [GRCh38]
Chr2:158636856 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.746C>T (p.Thr249Met) single nucleotide variant not provided [RCV000997243] Chr2:157770412 [GRCh38]
Chr2:158626924 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.*752A>G single nucleotide variant Progressive myositis ossificans [RCV001132087] Chr2:157736779 [GRCh38]
Chr2:158593291 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.643+181T>A single nucleotide variant not provided [RCV001717460] Chr2:157773907 [GRCh38]
Chr2:158630419 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.643+166T>G single nucleotide variant not provided [RCV001652016] Chr2:157773922 [GRCh38]
Chr2:158630434 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.67+45_67+47dup duplication not provided [RCV001590800] Chr2:157799371..157799372 [GRCh38]
Chr2:158655883..158655884 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.68-38dup duplication not provided [RCV001559373] Chr2:157780624..157780625 [GRCh38]
Chr2:158637136..158637137 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.501C>T (p.Ile167=) single nucleotide variant not provided [RCV000914983] Chr2:157778173 [GRCh38]
Chr2:158634685 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.1109T>C (p.Val370Ala) single nucleotide variant not provided [RCV000901520] Chr2:157761035 [GRCh38]
Chr2:158617547 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.870G>A (p.Ser290=) single nucleotide variant not provided [RCV000885593] Chr2:157766117 [GRCh38]
Chr2:158622629 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.1149C>T (p.Ala383=) single nucleotide variant not provided [RCV000932176] Chr2:157760995 [GRCh38]
Chr2:158617507 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.1073C>A (p.Ala358Glu) single nucleotide variant Progressive myositis ossificans [RCV001249702] Chr2:157761071 [GRCh38]
Chr2:158617583 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.-182-10C>T single nucleotide variant Progressive myositis ossificans [RCV001133128] Chr2:157818569 [GRCh38]
Chr2:158675081 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.1152C>T (p.Pro384=) single nucleotide variant not provided [RCV000935831] Chr2:157760992 [GRCh38]
Chr2:158617504 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.68-236del deletion not provided [RCV001676457] Chr2:157780836 [GRCh38]
Chr2:158637348 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.67+45dup duplication not provided [RCV001541326] Chr2:157799371..157799372 [GRCh38]
Chr2:158655883..158655884 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.68-321C>T single nucleotide variant not provided [RCV001695832] Chr2:157780921 [GRCh38]
Chr2:158637433 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.67+192T>A single nucleotide variant not provided [RCV001672154] Chr2:157799235 [GRCh38]
Chr2:158655747 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.1029G>A (p.Leu343=) single nucleotide variant Progressive myositis ossificans [RCV001129473] Chr2:157765958 [GRCh38]
Chr2:158622470 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.361C>T (p.His121Tyr) single nucleotide variant not provided [RCV001091995] Chr2:157778313 [GRCh38]
Chr2:158634825 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.68-25del deletion not provided [RCV001725728] Chr2:157780625 [GRCh38]
Chr2:158637137 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.1396-231A>G single nucleotide variant not provided [RCV001693608] Chr2:157737896 [GRCh38]
Chr2:158594408 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.1067-225T>C single nucleotide variant not provided [RCV001669688] Chr2:157761302 [GRCh38]
Chr2:158617814 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.544-112C>T single nucleotide variant not provided [RCV001647699] Chr2:157774299 [GRCh38]
Chr2:158630811 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.*137C>T single nucleotide variant Progressive myositis ossificans [RCV001136458] Chr2:157737394 [GRCh38]
Chr2:158593906 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.525T>A (p.Val175=) single nucleotide variant Progressive myositis ossificans [RCV001132194] Chr2:157778149 [GRCh38]
Chr2:158634661 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.*751T>G single nucleotide variant Progressive myositis ossificans [RCV001132088] Chr2:157736780 [GRCh38]
Chr2:158593292 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.*182C>T single nucleotide variant Progressive myositis ossificans [RCV001133021] Chr2:157737349 [GRCh38]
Chr2:158593861 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.-99G>A single nucleotide variant Progressive myositis ossificans [RCV001133127] Chr2:157818476 [GRCh38]
Chr2:158674988 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.511A>C (p.Ile171Leu) single nucleotide variant not provided [RCV001091994] Chr2:157778163 [GRCh38]
Chr2:158634675 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.-183+673C>G single nucleotide variant Progressive myositis ossificans [RCV001134599] Chr2:157875123 [GRCh38]
Chr2:158731635 [GRCh37]
Chr2:2q24.1
uncertain significance
GRCh37/hg19 2q24.1(chr2:156696086-159450561)x1 copy number loss not provided [RCV001259776] Chr2:156696086..159450561 [GRCh37]
Chr2:2q24.1
likely pathogenic
NM_001111067.4(ACVR1):c.643+134A>G single nucleotide variant not provided [RCV001534016] Chr2:157773954 [GRCh38]
Chr2:158630466 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.67+45_67+46dup duplication not provided [RCV001619483] Chr2:157799371..157799372 [GRCh38]
Chr2:158655883..158655884 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.332-197T>C single nucleotide variant not provided [RCV001609432] Chr2:157778539 [GRCh38]
Chr2:158635051 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.1396-138G>A single nucleotide variant not provided [RCV001714776] Chr2:157737803 [GRCh38]
Chr2:158594315 [GRCh37]
Chr2:2q24.1
benign
GRCh37/hg19 2q23.3-24.2(chr2:152967964-160089210)x3 copy number gain not provided [RCV001825170] Chr2:152967964..160089210 [GRCh37]
Chr2:2q23.3-24.2
not provided
NM_001111067.4(ACVR1):c.920G>A (p.Arg307Gln) single nucleotide variant not provided [RCV001896039] Chr2:157766067 [GRCh38]
Chr2:158622579 [GRCh37]
Chr2:2q24.1
uncertain significance
GRCh37/hg19 2q23.3-24.1(chr2:154328530-158759642)x1 copy number loss not provided [RCV001827767] Chr2:154328530..158759642 [GRCh37]
Chr2:2q23.3-24.1
pathogenic
NM_001111067.4(ACVR1):c.1253T>C (p.Met418Thr) single nucleotide variant not provided [RCV001969689] Chr2:157760891 [GRCh38]
Chr2:158617403 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.543A>C (p.Ala181=) single nucleotide variant not provided [RCV001964242] Chr2:157778131 [GRCh38]
Chr2:158634643 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.706A>C (p.Ile236Leu) single nucleotide variant not provided [RCV002001838] Chr2:157770452 [GRCh38]
Chr2:158626964 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.485T>C (p.Val162Ala) single nucleotide variant not provided [RCV001910491] Chr2:157778189 [GRCh38]
Chr2:158634701 [GRCh37]
Chr2:2q24.1
uncertain significance
GRCh37/hg19 2q23.3-24.1(chr2:154852961-159126250)x1 copy number loss not provided [RCV001827793] Chr2:154852961..159126250 [GRCh37]
Chr2:2q23.3-24.1
pathogenic
NM_001111067.4(ACVR1):c.251C>T (p.Pro84Leu) single nucleotide variant not provided [RCV001928161] Chr2:157780417 [GRCh38]
Chr2:158636929 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.99C>A (p.Tyr33Ter) single nucleotide variant not provided [RCV002022515] Chr2:157780569 [GRCh38]
Chr2:158637081 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.1348G>A (p.Val450Met) single nucleotide variant not provided [RCV001891966] Chr2:157738487 [GRCh38]
Chr2:158594999 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.181G>A (p.Asp61Asn) single nucleotide variant not provided [RCV001887657] Chr2:157780487 [GRCh38]
Chr2:158636999 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.988C>T (p.Pro330Ser) single nucleotide variant not provided [RCV002020051] Chr2:157765999 [GRCh38]
Chr2:158622511 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.1318A>G (p.Ser440Gly) single nucleotide variant not provided [RCV001989670] Chr2:157738517 [GRCh38]
Chr2:158595029 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.1038G>T (p.Lys346Asn) single nucleotide variant not provided [RCV002012115] Chr2:157765949 [GRCh38]
Chr2:158622461 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.76C>T (p.Pro26Ser) single nucleotide variant not provided [RCV001923880] Chr2:157780592 [GRCh38]
Chr2:158637104 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.532A>C (p.Ser178Arg) single nucleotide variant not provided [RCV002012517] Chr2:157778142 [GRCh38]
Chr2:158634654 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.636G>C (p.Glu212Asp) single nucleotide variant not provided [RCV001884075] Chr2:157774095 [GRCh38]
Chr2:158630607 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.1126G>A (p.Val376Met) single nucleotide variant not provided [RCV002014155] Chr2:157761018 [GRCh38]
Chr2:158617530 [GRCh37]
Chr2:2q24.1
uncertain significance
NM_001111067.4(ACVR1):c.67+9C>T single nucleotide variant not provided [RCV002127549] Chr2:157799418 [GRCh38]
Chr2:158655930 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.180C>T (p.Asn60=) single nucleotide variant not provided [RCV002165740] Chr2:157780488 [GRCh38]
Chr2:158637000 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.332-20C>T single nucleotide variant not provided [RCV002165358] Chr2:157778362 [GRCh38]
Chr2:158634874 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.11G>A (p.Gly4Glu) single nucleotide variant not provided [RCV002166093] Chr2:157799483 [GRCh38]
Chr2:158655995 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.1308C>T (p.Pro436=) single nucleotide variant not provided [RCV002071735] Chr2:157738527 [GRCh38]
Chr2:158595039 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.331+16T>C single nucleotide variant not provided [RCV002080906] Chr2:157780321 [GRCh38]
Chr2:158636833 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.1395+7A>G single nucleotide variant not provided [RCV002091464] Chr2:157738433 [GRCh38]
Chr2:158594945 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.357T>C (p.Asn119=) single nucleotide variant not provided [RCV002193040] Chr2:157778317 [GRCh38]
Chr2:158634829 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.331+12C>A single nucleotide variant not provided [RCV002195041] Chr2:157780325 [GRCh38]
Chr2:158636837 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.1296C>T (p.Tyr432=) single nucleotide variant not provided [RCV002093837] Chr2:157738539 [GRCh38]
Chr2:158595051 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.561G>T (p.Ser187=) single nucleotide variant not provided [RCV002169857] Chr2:157774170 [GRCh38]
Chr2:158630682 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.147A>G (p.Glu49=) single nucleotide variant not provided [RCV002212002] Chr2:157780521 [GRCh38]
Chr2:158637033 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.1396-20T>G single nucleotide variant not provided [RCV002194323] Chr2:157737685 [GRCh38]
Chr2:158594197 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.1264+19A>C single nucleotide variant not provided [RCV002130851] Chr2:157760861 [GRCh38]
Chr2:158617373 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.1395+15T>C single nucleotide variant not provided [RCV002114652] Chr2:157738425 [GRCh38]
Chr2:158594937 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.544-12C>T single nucleotide variant not provided [RCV002087242] Chr2:157774199 [GRCh38]
Chr2:158630711 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.879C>T (p.Asp293=) single nucleotide variant not provided [RCV002102315] Chr2:157766108 [GRCh38]
Chr2:158622620 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.618C>T (p.Arg206=) single nucleotide variant not provided [RCV002100713] Chr2:157774113 [GRCh38]
Chr2:158630625 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.192C>T (p.His64=) single nucleotide variant not provided [RCV002200550] Chr2:157780476 [GRCh38]
Chr2:158636988 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.331+15T>C single nucleotide variant not provided [RCV002142462] Chr2:157780322 [GRCh38]
Chr2:158636834 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.687G>A (p.Gly229=) single nucleotide variant not provided [RCV002119520] Chr2:157770471 [GRCh38]
Chr2:158626983 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.1398A>T (p.Thr466=) single nucleotide variant not provided [RCV002182983] Chr2:157737663 [GRCh38]
Chr2:158594175 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.1066+17A>G single nucleotide variant not provided [RCV002157873] Chr2:157765904 [GRCh38]
Chr2:158622416 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.544-7A>T single nucleotide variant not provided [RCV002156677] Chr2:157774194 [GRCh38]
Chr2:158630706 [GRCh37]
Chr2:2q24.1
likely benign
NM_001111067.4(ACVR1):c.643+15dup duplication not provided [RCV002136849] Chr2:157774072..157774073 [GRCh38]
Chr2:158630584..158630585 [GRCh37]
Chr2:2q24.1
benign
NM_001111067.4(ACVR1):c.252G>A (p.Pro84=) single nucleotide variant not provided [RCV002101377] Chr2:157780416 [GRCh38]
Chr2:158636928 [GRCh37]
Chr2:2q24.1
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:171 AgrOrtholog
COSMIC ACVR1 COSMIC
Ensembl Genes ENSG00000115170 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000263640 ENTREZGENE
  ENSP00000263640.3 UniProtKB/Swiss-Prot
  ENSP00000387127 ENTREZGENE
  ENSP00000387127.2 UniProtKB/Swiss-Prot
  ENSP00000387273.2 UniProtKB/Swiss-Prot
  ENSP00000399322.1 UniProtKB/TrEMBL
  ENSP00000400767 ENTREZGENE
  ENSP00000400767.2 UniProtKB/Swiss-Prot
  ENSP00000401189.1 UniProtKB/TrEMBL
  ENSP00000403006.1 UniProtKB/TrEMBL
  ENSP00000405004 ENTREZGENE
  ENSP00000405004.1 UniProtKB/Swiss-Prot
  ENSP00000440091 ENTREZGENE
  ENSP00000440091.2 UniProtKB/Swiss-Prot
  ENSP00000500109 ENTREZGENE
  ENSP00000500109.1 UniProtKB/Swiss-Prot
  ENSP00000500605.1 UniProtKB/Swiss-Prot
  ENSP00000506824.1 UniProtKB/TrEMBL
  ENSP00000507086.1 UniProtKB/Swiss-Prot
  ENSP00000507102.1 UniProtKB/Swiss-Prot
  ENSP00000507113.1 UniProtKB/Swiss-Prot
  ENSP00000507597.1 UniProtKB/TrEMBL
  ENSP00000507727.1 UniProtKB/Swiss-Prot
  ENSP00000507730.1 UniProtKB/Swiss-Prot
  ENSP00000508136 ENTREZGENE
  ENSP00000508136.1 UniProtKB/Swiss-Prot
  ENSP00000508189.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000263640 ENTREZGENE
  ENST00000263640.7 UniProtKB/Swiss-Prot
  ENST00000409283.6 UniProtKB/Swiss-Prot
  ENST00000410057 ENTREZGENE
  ENST00000410057.6 UniProtKB/Swiss-Prot
  ENST00000412025.5 UniProtKB/TrEMBL
  ENST00000413751.1 UniProtKB/TrEMBL
  ENST00000424669 ENTREZGENE
  ENST00000424669.6 UniProtKB/Swiss-Prot
  ENST00000434821 ENTREZGENE
  ENST00000434821.7 UniProtKB/Swiss-Prot
  ENST00000440523.5 UniProtKB/TrEMBL
  ENST00000539637 ENTREZGENE
  ENST00000539637.6 UniProtKB/Swiss-Prot
  ENST00000672582.1 UniProtKB/Swiss-Prot
  ENST00000673324 ENTREZGENE
  ENST00000673324.1 UniProtKB/Swiss-Prot
  ENST00000682025.1 UniProtKB/Swiss-Prot
  ENST00000682300.1 UniProtKB/Swiss-Prot
  ENST00000683404.1 UniProtKB/TrEMBL
  ENST00000683426.1 UniProtKB/TrEMBL
  ENST00000683441.1 UniProtKB/Swiss-Prot
  ENST00000683487.1 UniProtKB/Swiss-Prot
  ENST00000683820.1 UniProtKB/Swiss-Prot
  ENST00000684348 ENTREZGENE
  ENST00000684348.1 UniProtKB/Swiss-Prot
  ENST00000684595.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.60.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000115170 GTEx
HGNC ID HGNC:171 ENTREZGENE
Human Proteome Map ACVR1 Human Proteome Map
InterPro Activin_recp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Snake_toxin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGFB_receptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:90 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 90 ENTREZGENE
OMIM 102576 OMIM
  135100 OMIM
PANTHER PTHR23255 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Activin_recp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF_beta_GS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24492 PharmGKB
PRINTS ACTIVIN2R UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS51256 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00467 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57302 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z2Y3_HUMAN UniProtKB/TrEMBL
  A0A0S2Z345_HUMAN UniProtKB/TrEMBL
  A0A1B0GXA9_HUMAN UniProtKB/TrEMBL
  A0A804HHZ2_HUMAN UniProtKB/TrEMBL
  A0A804HJQ0_HUMAN UniProtKB/TrEMBL
  ACVR1_HUMAN UniProtKB/Swiss-Prot
  C9JHJ7_HUMAN UniProtKB/TrEMBL
  C9JW28_HUMAN UniProtKB/TrEMBL
  D3DPA4 ENTREZGENE, UniProtKB/TrEMBL
  L8E7H6_HUMAN UniProtKB/TrEMBL
  Q04771 ENTREZGENE
  Q53SF4_HUMAN UniProtKB/TrEMBL
  Q53SV1_HUMAN UniProtKB/TrEMBL
UniProt Secondary A0A0A6YYV0 UniProtKB/TrEMBL
  A0A0K0K1H1 UniProtKB/TrEMBL
  C9K064 UniProtKB/TrEMBL
  D3DPA5 UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 ACVR1  activin A receptor type 1  ACVR1  activin A receptor type I  Symbol and/or name change 5135510 APPROVED
2015-11-10 ACVR1  activin A receptor type I  ACVR1  activin A receptor, type I  Symbol and/or name change 5135510 APPROVED