Gene Page: ILVBL

Summary ?
GeneID10994
SymbolILVBL
Synonyms209L8|AHAS|ILV2H
DescriptionilvB (bacterial acetolactate synthase)-like
ReferenceMIM:605770|HGNC:HGNC:6041|Ensembl:ENSG00000105135|HPRD:16152|Vega:OTTHUMG00000165630
Gene typeprotein-coding
Map location19p13.1
Pascal p-value0.184
Sherlock p-value0.698
TADA p-value0.014
Fetal beta0.348
eGeneCerebellum
Myers' cis & trans
SupportCompositeSet
Ascano FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
ILVBLchr1915230063CTNM_006844p.322R>QmissenseSchizophreniaDNM:Fromer_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs16894557chr628999825ILVBL109940.14trans

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
AGPAT30.840.85
TBC1D9B0.830.82
KLHL210.830.83
LAMP10.820.81
TECPR20.820.83
TMEM184B0.820.82
SIDT20.810.79
DENND5A0.800.82
TOM1L20.800.80
ASB10.800.78
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
RPL31-0.48-0.56
PFDN5-0.48-0.53
RPL35-0.47-0.56
ST20-0.47-0.53
C8orf59-0.47-0.47
RPL24-0.46-0.54
RPL13AP22-0.45-0.63
COX16-0.45-0.48
RPS3AP47-0.45-0.49
RPL27-0.44-0.54

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
CASORELLI ACUTE PROMYELOCYTIC LEUKEMIA DN 663425All SZGR 2.0 genes in this pathway
ELVIDGE HYPOXIA UP 171112All SZGR 2.0 genes in this pathway
ELVIDGE HYPOXIA BY DMOG UP 13085All SZGR 2.0 genes in this pathway
ELVIDGE HIF1A TARGETS DN 9158All SZGR 2.0 genes in this pathway
ELVIDGE HIF1A AND HIF2A TARGETS DN 10472All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA ANAPLASTIC DN 537339All SZGR 2.0 genes in this pathway
RICKMAN TUMOR DIFFERENTIATED WELL VS POORLY DN 382224All SZGR 2.0 genes in this pathway
POMEROY MEDULLOBLASTOMA DESMOPLASIC VS CLASSIC UP 6238All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS STEM CELL AND PROGENITOR 681420All SZGR 2.0 genes in this pathway
STEIN ESRRA TARGETS UP 388234All SZGR 2.0 genes in this pathway
CHUNG BLISTER CYTOTOXICITY UP 13484All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA HAPTOTAXIS DN 668419All SZGR 2.0 genes in this pathway
STEIN ESRRA TARGETS 535325All SZGR 2.0 genes in this pathway
KYNG WERNER SYNDROM AND NORMAL AGING UP 9362All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 13 172107All SZGR 2.0 genes in this pathway
LI INDUCED T TO NATURAL KILLER DN 11683All SZGR 2.0 genes in this pathway
CHANGOLKAR H2AFY TARGETS UP 4828All SZGR 2.0 genes in this pathway
LEE BMP2 TARGETS UP 745475All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG RXRA BOUND 36HR 15288All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG RXRA BOUND 8D 882506All SZGR 2.0 genes in this pathway