Gene Page:KIAA0430

Summary?
GeneID 9665
Symbol KIAA0430
Synonyms LKAP|MARF1|PPP1R34
Description KIAA0430
Reference MIM:614593|HGNC:HGNC:29562|Ensembl:ENSG00000166783|HPRD:13992|Vega:OTTHUMG00000129884
Gene type protein-coding
Map location 16p13.11
Pascal p-value 0.036
Sherlock p-value 0.337
Fetal beta 0.826
eGene Myers' cis & trans
Support Darnell FMRP targets

Gene in Data Sources
Gene set name Method of gene set Description Info
CNV:YES Copy number variation studies Manual curation
CV:PGCnp Genome-wide Association Study GWAS
DNM:Guipponi_2014 Whole Exome Sequencing analysis 49 DNMs were identified by comparing the exome of 53 individuals with sporadic SCZ and of their non-affected parents
GSMA_IIE Genome scan meta-analysis (European-ancestry samples) Psr: 0.01775

Section I. Genetics and epigenetics annotation

@DNM table

Gene Chromosome Position Ref Alt Transcript AA change Mutation type Sift CG46 Trait Study
KIAA0430 A C NM_001184998 p.M114L missense 0.12 0.47 Schizophrenia DNM:Guipponi_2014

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs9875049 chr3 56457469 KIAA0430 9665 0.19 trans
rs4366501 chr11 133380324 KIAA0430 9665 2.313E-4 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),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:0003723 RNA binding IEA -
Cellular component 去的术语 Evidence Neuro keywords PubMed ID
GO:0005777 peroxisome IEA -

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
NAKAMURA TUMOR ZONE PERIPHERAL VS CENTRAL DN 634 384 All SZGR 2.0 genes in this pathway
DEURIG T CELL PROLYMPHOCYTIC LEUKEMIA DN 320 184 All SZGR 2.0 genes in this pathway
NAGASHIMA NRG1 SIGNALING DN 58 35 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 B LYMPHOCYTE DN 38 25 All SZGR 2.0 genes in this pathway
PENG RAPAMYCIN RESPONSE UP 203 130 All SZGR 2.0 genes in this pathway
MARTINEZ RESPONSE TO TRABECTEDIN 50 32 All SZGR 2.0 genes in this pathway
KAYO AGING MUSCLE DN 123 76 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 24HR UP 148 96 All SZGR 2.0 genes in this pathway
ROME INSULIN TARGETS IN MUSCLE UP 442 263 All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION DN 1080 713 All SZGR 2.0 genes in this pathway
PLASARI TGFB1 SIGNALING VIA NFIC 1HR DN 106 77 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-124/506 582 588 m8 hsa-miR-506 UAAGGCACCCUUCUGAGUAGA
hsa-miR-124brain UAAGGCACGCGGUGAAUGCC
miR-133 2265 2272 1A,m8 hsa-miR-133a UUGGUCCCCUUCAACCAGCUGU
hsa-miR-133b UUGGUCCCCUUCAACCAGCUA
miR-193 1983 1989 m8 hsa-miR-193a AACUGGCCUACAAAGUCCCAG
hsa-miR-193b AACUGGCCCUCAAAGUCCCGCUUU
miR-224 569 575 m8 hsa-miR-224 CAAGUCACUAGUGGUUCCGUUUA
miR-25/32/92/363/367 1607 1613 m8 hsa-miR-25brain CAUUGCACUUGUCUCGGUCUGA
hsa-miR-32 UAUUGCACAUUACUAAGUUGC
hsa-miR-92 UAUUGCACUUGUCCCGGCCUG
hsa-miR-367 AAUUGCACUUUAGCAAUGGUGA
hsa-miR-92bSZ UAUUGCACUCGUCCCGGCCUC
miR-7 1291 1298 1A,m8 hsa-miR-7SZ UGGAAGACUAGUGAUUUUGUUG