Summary ?
GeneID253982
SymbolASPHD1
Synonyms-
Descriptionaspartate beta-hydroxylase domain containing 1
ReferenceHGNC:HGNC:27380|Ensembl:ENSG00000174939|HPRD:14139|Vega:OTTHUMG00000132121
Gene typeprotein-coding
Map location16p11.2
Pascal p-value2.159E-9
Fetal beta-2.58

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CNV:YESCopy number variation studiesManual curation
GSMA_IIEGenome scan meta-analysis (European-ancestry samples)Psr: 0.01775 

Section I. Genetics and epigenetics annotation


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.

No co-expressed genes in brain regions


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
SCHLOSSER SERUM RESPONSE DN 712443All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS UP 769437All SZGR 2.0 genes in this pathway
OUILLETTE CLL 13Q14 DELETION UP 7440All SZGR 2.0 genes in this pathway