Gene Page:ACVRL1

Summary?
GeneID 94
Symbol ACVRL1
Synonyms ACVRLK1|ALK-1|ALK1|HHT|HHT2|ORW2|SKR3|TSR-I
Description activin A receptor like type 1
Reference MIM:601284|HGNC:HGNC:175|Ensembl:ENSG00000139567|HPRD:03181|Vega:OTTHUMG00000169507
Gene type protein-coding
Map location 12q13.13
Pascal p-value 0.502
Fetal beta -0.214
DMG 1 (# studies)
eGene Myers' cis & trans
元

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DMG:Wockner_2014 Genome-wide DNA methylation analysis This 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

Probe Chromosome Position Nearest gene P (dis) Beta (dis) FDR (dis) Study
cg12193731 12 52300911 ACVRL1 4.312E-4 -0.642 0.045 DMG:Wockner_2014
cg09043511 12 52305945 ACVRL1 5.952E-4 0.321 0.05 DMG:Wockner_2014

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs2190759 chr17 55794698 ACVRL1 94 0.19 trans

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
死神:胎儿(13 - 26 postconception周),圣2: 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
Gene Pearson's Correlation Spearman's Correlation
IFT20 0.71 0.77
FKBP3 0.70 0.74
SNRPA1 0.70 0.77
AC022098.3 0.70 0.58
FAM50A 0.70 0.72
PDCD5 0.69 0.72
GRK4 0.69 0.68
GCHFR 0.69 0.69
NDUFS4 0.68 0.72
ANAPC4 0.68 0.69
Top 10 negatively co-expressed genes
Gene Pearson'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 name Pathway size # SZGR 2.0 genes in pathway Info
KEGG CYTOKINE CYTOKINE RECEPTOR INTERACTION 267 161 All SZGR 2.0 genes in this pathway
KEGG TGF BETA SIGNALING PATHWAY 86 64 All SZGR 2.0 genes in this pathway
PID ALK1 PATHWAY 26 21 All SZGR 2.0 genes in this pathway
PICCALUGA ANGIOIMMUNOBLASTIC LYMPHOMA UP 205 140 All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL RUNX1 9 6 All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL QTL TRANS 882 572 All SZGR 2.0 genes in this pathway
PENG RAPAMYCIN RESPONSE DN 245 154 All SZGR 2.0 genes in this pathway
MUNSHI MULTIPLE MYELOMA UP 81 52 All SZGR 2.0 genes in this pathway
RAMALHO STEMNESS DN 74 55 All SZGR 2.0 genes in this pathway
BAELDE DIABETIC NEPHROPATHY UP 86 48 All SZGR 2.0 genes in this pathway
MCDOWELL ACUTE LUNG INJURY DN 48 33 All SZGR 2.0 genes in this pathway
RIZKI TUMOR INVASIVENESS 3D DN 270 181 All SZGR 2.0 genes in this pathway
SMID BREAST CANCER NORMAL LIKE UP 476 285 All SZGR 2.0 genes in this pathway
SWEET LUNG CANCER KRAS DN 435 289 All SZGR 2.0 genes in this pathway
CHEN METABOLIC SYNDROM NETWORK 1210 725 All SZGR 2.0 genes in this pathway
DING LUNG CANCER BY MUTATION RATE 20 18 All SZGR 2.0 genes in this pathway
MIKKELSEN MCV6 HCP WITH H3K27ME3 435 318 All SZGR 2.0 genes in this pathway
MARTENS TRETINOIN RESPONSE UP 857 456 All SZGR 2.0 genes in this pathway
HOELZEL NF1 TARGETS UP 139 93 All SZGR 2.0 genes in this pathway