Gene Page:BRSK1

Summary?
GeneID 84446
Symbol BRSK1
Synonyms hSAD1
Description BR serine/threonine kinase 1
Reference MIM:609235|HGNC:HGNC:18994|Ensembl:ENSG00000160469|HPRD:12533|Vega:OTTHUMG00000180735
Gene type protein-coding
Map location 19q13.4
Pascal p-value 0.451
Sherlock p-value 0.86
TADA p-value 0.016
Fetal beta -0.126
Support INTRACELLULAR SIGNAL TRANSDUCTION
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
Darnell FMRP targets

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DNM:Fromer_2014 Whole Exome Sequencing analysis This study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
GO_Annotation Mapping neuro-related keywords to Gene Ontology annotations Hits with neuro-related keywords: 1

Section I. Genetics and epigenetics annotation

@DNM table

Gene Chromosome Position Ref Alt Transcript AA change Mutation type Sift CG46 Trait Study
BRSK1 chr19 55798375 G A NM_032430
NM_032430		 .
p.46G>E		 splice-acceptor-ex1g
missense		 Schizophrenia DNM:Fromer_2014


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),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.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular function 去的术语 Evidence Neuro keywords PubMed ID
GO:0000166 nucleotide binding IEA -
GO:0000287 magnesium ion binding IDA 14976552
GO:0005524 ATP binding IC 15150265
GO:0004674 protein serine/threonine kinase activity IDA 15150265
GO:0016740 transferase activity IEA -
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0030182 neuron differentiation ISS neuron (GO term level: 8) -
GO:0006468 protein amino acid phosphorylation IDA 15150265
GO:0030010 establishment of cell polarity ISS -
GO:0010212 response to ionizing radiation IDA 15150265
GO:0009411 response to UV IDA 15150265
GO:0006974 response to DNA damage stimulus IDA 15150265
GO:0031572 G2/M transition DNA damage checkpoint IDA 15150265
Cellular component 去的术语 Evidence Neuro keywords PubMed ID
GO:0005634 nucleus IDA 15150265
GO:0005737 cytoplasm IDA 15150265

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
PID LKB1 PATHWAY 47 37 All SZGR 2.0 genes in this pathway
HAMAI APOPTOSIS VIA TRAIL DN 186 107 All SZGR 2.0 genes in this pathway
MANTOVANI NFKB TARGETS DN 11 6 All SZGR 2.0 genes in this pathway
MANTOVANI VIRAL GPCR SIGNALING DN 49 37 All SZGR 2.0 genes in this pathway
ZHAN MULTIPLE MYELOMA MF DN 41 28 All SZGR 2.0 genes in this pathway
MIKKELSEN ES ICP WITH H3K4ME3 718 401 All SZGR 2.0 genes in this pathway
MIKKELSEN NPC ICP WITH H3K4ME3 445 257 All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION DN 1080 713 All SZGR 2.0 genes in this pathway
DELACROIX RAR BOUND ES 462 273 All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 2ND EGF PULSE ONLY 1725 838 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-128 57 63 1A hsa-miR-128a UCACAGUGAACCGGUCUCUUUU
hsa-miR-128b UCACAGUGAACCGGUCUCUUUC
miR-27 57 64 1A,m8 hsa-miR-27abrain UUCACAGUGGCUAAGUUCCGC
hsa-miR-27bbrain UUCACAGUGGCUAAGUUCUGC