Gene Page:ACVR1

Summary?
GeneID 90
Symbol ACVR1
Synonyms ACTRI|ACVR1A|ACVRLK2|ALK2|FOP|SKR1|TSRI
Description activin A receptor type 1
Reference MIM:102576|HGNC:HGNC:171|Ensembl:ENSG00000115170|HPRD:00021|Vega:OTTHUMG00000131967
Gene type protein-coding
Map location 2q23-q24
Pascal p-value 0.326
Sherlock p-value 0.008
Fetal beta 0.774

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
PMID:cooccur High-throughput literature-search Systematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
GSMA_IIA Genome scan meta-analysis (All samples) Psr: 0.02395
Literature High-throughput literature-search Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenias Click to show details

Section I. Genetics and epigenetics annotation


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

基因表达在发展脉络(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
Gene Pearson's Correlation Spearman's Correlation
RAD54L2 0.94 0.93
CELSR3 0.93 0.92
KIAA1549 0.93 0.92
USP49 0.93 0.92
DCX 0.93 0.90
IGF1R 0.93 0.93
ZMIZ1 0.92 0.91
BEND3 0.92 0.91
C20orf117 0.91 0.92
PLXNA2 0.91 0.89
Top 10 negatively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
C5orf53 -0.61 -0.76
HLA-F -0.59 -0.74
AIFM3 -0.59 -0.74
SLC16A11 -0.59 -0.64
ALDOC -0.59 -0.70
SERPINB6 -0.58 -0.70
LHPP -0.58 -0.59
PTH1R -0.58 -0.71
HEPN1 -0.58 -0.70
FBXO2 -0.58 -0.62

Section III. Gene Ontology annotation

Molecular function 去的术语 Evidence Neuro keywords PubMed ID
GO:0000166 nucleotide binding IEA -
GO:0000287 玛格nesium ion binding IEA -
GO:0004872 receptor activity IEA -
GO:0005524 ATP binding IDA 12065756
GO:0016740 transferase activity IEA -
GO:0016361 activin receptor activity, type I IDA 8242742
GO:0042803 protein homodimerization activity IDA 18436533
GO:0030145 manganese ion binding IEA -
GO:0048184 follistatin binding NAS 12702211
GO:0048185 activin binding IDA 8242742
GO:0046332 SMAD binding IDA 12065756
GO:0050431 transforming growth factor beta binding IDA 8242742
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0000082 G1/S transition of mitotic cell cycle IMP 9884026
GO:0001755 neural crest cell migration IEA -
GO:0001569 patterning of blood vessels IEA -
GO:0001701 in utero embryonic development IEA -
GO:0001702 gastrulation with mouth forming second IEA -
GO:0001707 mesoderm formation IEA -
GO:0002526 acute inflammatory response IEA -
GO:0006468 protein amino acid phosphorylation IDA 12065756
GO:0007368 determination of left/right symmetry IEA -
GO:0007281 germ cell development IEA -
GO:0007179 transforming growth factor beta receptor signaling pathway IDA 8242742
GO:0009790 embryonic development IEA -
GO:0007507 heart development IEA -
GO:0007498 mesoderm development IEA -
GO:0043066 negative regulation of apoptosis IMP 9884026
GO:0060037 pharyngeal system development IEA -
GO:0030501 positive regulation of bone mineralization IMP 18436533
GO:0030509 BMP signaling pathway IDA 18436533
GO:0051145 smooth muscle cell differentiation IEA -
GO:0030278 regulation of ossification IMP 16642017
GO:0032926 negative regulation of activin receptor signaling pathway IMP 9884026
GO:0045941 positive regulation of transcription IDA 8242742
GO:0045669 positive regulation of osteoblast differentiation IMP 18436533
Cellular component 去的术语 Evidence Neuro keywords PubMed ID
GO:0016020 membrane IEA -
GO:0045177 apical part of cell IEA -
GO:0048179 activin receptor complex IDA 8242742

Section IV. Protein-protein interaction annotation

Interactors Aliases B Official full name B Experimental Source PubMed ID
ACVR1B ACTRIB | ACVRLK4 | ALK4 | SKR2 activin A receptor, type IB - HPRD,BioGRID 8612709
BMP2 BMP2A bone morphogenetic protein 2 - HPRD 8006002
BMP7 OP-1 bone morphogenetic protein 7 - HPRD,BioGRID 8006002
BMPR2 BMPR-II | BMPR3 | BMR2 | BRK-3 | FLJ41585 | FLJ76945 | PPH1 | T-ALK bone morphogenetic protein receptor, type II (serine/threonine kinase) Affinity Capture-Western
Two-hybrid		 BioGRID 7791754
ENG CD105 | END | FLJ41744 | HHT1 | ORW | ORW1 endoglin - HPRD,BioGRID 9872992
FNTA FPTA | MGC99680 | PGGT1A | PTAR2 farnesyltransferase, CAAX box, alpha - HPRD,BioGRID 8599089
GDF5 BMP14 | CDMP1 | LAP4 | SYNS2 growth differentiation factor 5 - HPRD,BioGRID 8702914
IGSF1 IGCD1 | IGDC1 | INHBP | KIAA0364 | MGC75490 | PGSF2 immunoglobulin superfamily, member 1 - HPRD 11266516
INHBA EDF | FRP inhibin, beta A - HPRD 11266516
INHBB MGC157939 inhibin, beta B - HPRD 11266516
INHBC IHBC inhibin, beta C - HPRD 12651901
SMAD1 BSP1 | JV4-1 | JV41 | MADH1 | MADR1 SMAD家庭成员1 - HPRD 9748228|10583507
|10652350
SMAD1 BSP1 | JV4-1 | JV41 | MADH1 | MADR1 SMAD家庭成员1 Affinity Capture-Western BioGRID 9748228|10652350
SMAD5 DKFZp781C1895 | DKFZp781O1323 | Dwfc | JV5-1 | MADH5 SMAD家庭成员5 Affinity Capture-Western BioGRID 9748228|10652350
SMAD5 DKFZp781C1895 | DKFZp781O1323 | Dwfc | JV5-1 | MADH5 SMAD家庭成员5 - HPRD 9748228|10583507
|10652350


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
BIOCARTA ALK PATHWAY 37 29 All SZGR 2.0 genes in this pathway
PID ALK1 PATHWAY 26 21 All SZGR 2.0 genes in this pathway
PID ALK2 PATHWAY 11 9 All SZGR 2.0 genes in this pathway
BERTUCCI MEDULLARY VS DUCTAL BREAST CANCER DN 169 118 All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382 904 All SZGR 2.0 genes in this pathway
GARGALOVIC RESPONSE TO OXIDIZED PHOSPHOLIPIDS TURQUOISE UP 79 50 All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 1781 1082 All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174 695 All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN 855 609 All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 COMMON DN 483 336 All SZGR 2.0 genes in this pathway
GRUETZMANN PANCREATIC CANCER UP 358 245 All SZGR 2.0 genes in this pathway
BUYTAERT PHOTODYNAMIC THERAPY STRESS UP 811 508 All SZGR 2.0 genes in this pathway
SHEN SMARCA2 TARGETS UP 424 268 All SZGR 2.0 genes in this pathway
TARTE PLASMA CELL VS PLASMABLAST DN 309 206 All SZGR 2.0 genes in this pathway
ALCALAY AML BY NPM1 LOCALIZATION UP 140 83 All SZGR 2.0 genes in this pathway
DORSEY GAB2 TARGETS 31 17 All SZGR 2.0 genes in this pathway
WANG CISPLATIN RESPONSE AND XPC DN 228 146 All SZGR 2.0 genes in this pathway
SARTIPY BLUNTED BY INSULIN RESISTANCE DN 18 14 All SZGR 2.0 genes in this pathway
MASSARWEH TAMOXIFEN RESISTANCE UP 578 341 All SZGR 2.0 genes in this pathway
RIZKI TUMOR INVASIVENESS 2D UP 69 46 All SZGR 2.0 genes in this pathway
RAY TUMORIGENESIS BY ERBB2 CDC25A UP 104 57 All SZGR 2.0 genes in this pathway
BLUM RESPONSE TO SALIRASIB UP 245 159 All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS DN 366 257 All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA CHEMOTAXIS DN 457 302 All SZGR 2.0 genes in this pathway
COULOUARN TEMPORAL TGFB1 SIGNATURE DN 138 99 All SZGR 2.0 genes in this pathway
DUTERTRE ESTRADIOL RESPONSE 24HR DN 505 328 All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE EARLY LATE 317 190 All SZGR 2.0 genes in this pathway
IKEDA MIR1 TARGETS UP 53 39 All SZGR 2.0 genes in this pathway
IKEDA MIR30 TARGETS UP 116 87 All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA family Target position miRNA ID miRNA seq
UTR start UTR end Match method
miR-103/107 568 574 1A hsa-miR-103brain AGCAGCAUUGUACAGGGCUAUGA
hsa-miR-107brain AGCAGCAUUGUACAGGGCUAUCA
miR-128 191 197 1A hsa-miR-128a UCACAGUGAACCGGUCUCUUUU
hsa-miR-128b UCACAGUGAACCGGUCUCUUUC
miR-130/301 419 426 1A,m8 hsa-miR-130abrain CAGUGCAAUGUUAAAAGGGCAU
hsa-miR-301 CAGUGCAAUAGUAUUGUCAAAGC
hsa-miR-130bbrain CAGUGCAAUGAUGAAAGGGCAU
hsa-miR-454-3p UAGUGCAAUAUUGCUUAUAGGGUUU
hsa-miR-130abrain CAGUGCAAUGUUAAAAGGGCAU
hsa-miR-301 CAGUGCAAUAGUAUUGUCAAAGC
hsa-miR-130bbrain CAGUGCAAUGAUGAAAGGGCAU
hsa-miR-454-3p UAGUGCAAUAUUGCUUAUAGGGUUU
miR-137 390 396 1A hsa-miR-137 UAUUGCUUAAGAAUACGCGUAG
miR-140 167 173 m8 hsa-miR-140brain AGUGGUUUUACCCUAUGGUAG
miR-148/152 449 455 m8 hsa-miR-148a UCAGUGCACUACAGAACUUUGU
hsa-miR-152brain UCAGUGCAUGACAGAACUUGGG
hsa-miR-148b UCAGUGCAUCACAGAACUUUGU
miR-182 481 488 1A,m8 hsa-miR-182 UUUGGCAAUGGUAGAACUCACA
miR-27 191 198 1A,m8 hsa-miR-27abrain UUCACAGUGGCUAAGUUCCGC
hsa-miR-27bbrain UUCACAGUGGCUAAGUUCUGC
miR-30-5p 592 599 1A,m8 hsa-miR-30a-5p UGUAAACAUCCUCGACUGGAAG
hsa-miR-30cbrain UGUAAACAUCCUACACUCUCAGC
hsa-miR-30dSZ UGUAAACAUCCCCGACUGGAAG
hsa-miR-30bSZ UGUAAACAUCCUACACUCAGCU
hsa-miR-30e-5p UGUAAACAUCCUUGACUGGA
miR-31 480 486 1A hsa-miR-31 AGGCAAGAUGCUGGCAUAGCUG
miR-329 820 826 1A hsa-miR-329brain AACACACCUGGUUAACCUCUUU
miR-330 117 124 1A,m8 hsa-miR-330brain GCAAAGCACACGGCCUGCAGAGA
miR-338 61 67 m8 hsa-miR-338brain UCCAGCAUCAGUGAUUUUGUUGA
miR-365 302 309 1A,m8 hsa-miR-365 UAAUGCCCCUAAAAAUCCUUAU
miR-381 1052 1058 1A hsa-miR-381 UAUACAAGGGCAAGCUCUCUGU
miR-382 630 636 m8 hsa-miR-382brain GAAGUUGUUCGUGGUGGAUUCG
miR-384 424 430 m8 hsa-miR-384 AUUCCUAGAAAUUGUUCAUA
miR-93.hd/291-3p/294/295/302/372/373/520 658 664 1A hsa-miR-93brain AAAGUGCUGUUCGUGCAGGUAG
hsa-miR-302a UAAGUGCUUCCAUGUUUUGGUGA
hsa-miR-302b UAAGUGCUUCCAUGUUUUAGUAG
hsa-miR-302c UAAGUGCUUCCAUGUUUCAGUGG
hsa-miR-302d UAAGUGCUUCCAUGUUUGAGUGU
hsa-miR-372 AAAGUGCUGCGACAUUUGAGCGU
hsa-miR-373 GAAGUGCUUCGAUUUUGGGGUGU
hsa-miR-520e AAAGUGCUUCCUUUUUGAGGG
hsa-miR-520a AAAGUGCUUCCCUUUGGACUGU
hsa-miR-520b AAAGUGCUUCCUUUUAGAGGG
hsa-miR-520c AAAGUGCUUCCUUUUAGAGGGUU
hsa-miR-520d AAAGUGCUUCUCUUUGGUGGGUU
miR-96 482 488 1A hsa-miR-96brain UUUGGCACUAGCACAUUUUUGC