Gene Page: ACVRL1

Summary ?
GeneID94
SymbolACVRL1
SynonymsACVRLK1|ALK-1|ALK1|HHT|HHT2|ORW2|SKR3|TSR-I
Descriptionactivin A receptor like type 1
ReferenceMIM:601284|HGNC:HGNC:175|Ensembl:ENSG00000139567|HPRD:03181|Vega:OTTHUMG00000169507
Gene typeprotein-coding
Map location12q13.13
Pascal p-value0.502
Fetal beta-0.214
DMG1 (# studies)
eGeneMyers' cis & trans
Meta

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Wockner_2014Genome-wide DNA methylation analysisThis dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 2

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg121937311252300911ACVRL14.312E-4-0.6420.045DMG:Wockner_2014
cg090435111252305945ACVRL15.952E-40.3210.05DMG:Wockner_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs2190759chr1755794698ACVRL1940.19trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
IFT200.710.77
FKBP30.700.74
SNRPA10.700.77
AC022098.30.700.58
FAM50A0.700.72
PDCD50.690.72
GRK40.690.68
GCHFR0.690.69
NDUFS40.680.72
ANAPC40.680.69
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
AF347015.2-0.52-0.58
MT-CYB-0.49-0.53
AF347015.15-0.49-0.53
AF347015.31-0.49-0.51
AF347015.27-0.48-0.53
AF347015.8-0.48-0.51
MT-CO2-0.48-0.50
AF347015.33-0.47-0.50
AF347015.26-0.47-0.54
PRELP-0.46-0.50

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG CYTOKINE CYTOKINE RECEPTOR INTERACTION 267161All SZGR 2.0 genes in this pathway
KEGG TGF BETA SIGNALING PATHWAY 8664All SZGR 2.0 genes in this pathway
PID ALK1 PATHWAY 2621All SZGR 2.0 genes in this pathway
PICCALUGA ANGIOIMMUNOBLASTIC LYMPHOMA UP 205140All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL RUNX1 96All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL QTL TRANS 882572All SZGR 2.0 genes in this pathway
PENG RAPAMYCIN RESPONSE DN 245154All SZGR 2.0 genes in this pathway
MUNSHI MULTIPLE MYELOMA UP 8152All SZGR 2.0 genes in this pathway
RAMALHO STEMNESS DN 7455All SZGR 2.0 genes in this pathway
BAELDE DIABETIC NEPHROPATHY UP 8648All SZGR 2.0 genes in this pathway
MCDOWELL ACUTE LUNG INJURY DN 4833All SZGR 2.0 genes in this pathway
RIZKI TUMOR INVASIVENESS 3D DN 270181All SZGR 2.0 genes in this pathway
SMID BREAST CANCER NORMAL LIKE UP 476285All SZGR 2.0 genes in this pathway
SWEET LUNG CANCER KRAS DN 435289All SZGR 2.0 genes in this pathway
CHEN METABOLIC SYNDROM NETWORK 1210725All SZGR 2.0 genes in this pathway
DING LUNG CANCER BY MUTATION RATE 2018All SZGR 2.0 genes in this pathway
MIKKELSEN MCV6 HCP WITH H3K27ME3 435318All SZGR 2.0 genes in this pathway
MARTENS TRETINOIN RESPONSE UP 857456All SZGR 2.0 genes in this pathway
HOELZEL NF1 TARGETS UP 13993All SZGR 2.0 genes in this pathway