Summary ?
GeneID122773
SymbolKLHDC1
SynonymsMST025
Descriptionkelch domain containing 1
ReferenceMIM:611281|HGNC:HGNC:19836|Ensembl:ENSG00000197776|HPRD:13921|Vega:OTTHUMG00000140295
Gene typeprotein-coding
Map location14q21.3
Pascal p-value0.01
Sherlock p-value0.478
TADA p-value8.19E-4
Fetal beta-0.919
eGeneCerebellar Hemisphere
SupportCompositeSet

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
KLHDC1chr1450159920..50159922ACTANM_172193.frameshiftSchizophreniaDNM: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
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
ID20.880.49
GPR120.880.87
NFYA0.870.81
TBR10.860.71
PRDM80.860.77
FEZF20.850.76
PELI20.850.80
RP1-21O18.10.850.76
DAB10.840.81
KCTD120.830.83
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
SERPINB6-0.49-0.64
TNFSF12-0.46-0.65
C5orf53-0.46-0.76
HDDC2-0.45-0.49
AP003117.1-0.45-0.58
SLC16A11-0.45-0.63
HEPN1-0.45-0.70
C19orf66-0.44-0.37
FBXO2-0.44-0.62
AIFM3-0.44-0.74

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
WINTER HYPOXIA DN 5230All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED DN 805505All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA ANAPLASTIC DN 537339All SZGR 2.0 genes in this pathway
BENPORATH SUZ12 TARGETS 1038678All SZGR 2.0 genes in this pathway
MOLENAAR TARGETS OF CCND1 AND CDK4 UP 6748All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER WITH H3K9ME3 DN 12071All SZGR 2.0 genes in this pathway
WANG RESPONSE TO GSK3 INHIBITOR SB216763 UP 397206All SZGR 2.0 genes in this pathway
WIERENGA STAT5A TARGETS DN 213127All SZGR 2.0 genes in this pathway
BOSCO TH1 CYTOTOXIC MODULE 11462All SZGR 2.0 genes in this pathway