Summary ?
GeneID23474
SymbolETHE1
SynonymsHSCO|YF13H12
Descriptionethylmalonic encephalopathy 1
ReferenceMIM:608451|HGNC:HGNC:23287|Ensembl:ENSG00000105755|HPRD:09764|Vega:OTTHUMG00000182697
Gene typeprotein-coding
Map location19q13.31
Pascal p-value0.544
Sherlock p-value0.042
Fetal beta-0.219

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS

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
REACTOME SULFUR AMINO ACID METABOLISM 2417All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF AMINO ACIDS AND DERIVATIVES 200136All SZGR 2.0 genes in this pathway
PARENT MTOR SIGNALING UP 567375All SZGR 2.0 genes in this pathway
ONKEN UVEAL MELANOMA DN 526357All SZGR 2.0 genes in this pathway
CHANDRAN METASTASIS TOP50 DN 4526All SZGR 2.0 genes in this pathway
FULCHER INFLAMMATORY RESPONSE LECTIN VS LPS UP 579346All SZGR 2.0 genes in this pathway
GARY CD5 TARGETS UP 473314All SZGR 2.0 genes in this pathway
VECCHI GASTRIC CANCER ADVANCED VS EARLY DN 13870All SZGR 2.0 genes in this pathway
HAHTOLA SEZARY SYNDROM UP 9858All SZGR 2.0 genes in this pathway
HAHTOLA MYCOSIS FUNGOIDES SKIN UP 177113All SZGR 2.0 genes in this pathway
PROVENZANI METASTASIS DN 13694All SZGR 2.0 genes in this pathway
DELYS THYROID CANCER UP 443294All SZGR 2.0 genes in this pathway
LUI THYROID CANCER PAX8 PPARG DN 4529All SZGR 2.0 genes in this pathway
LUI THYROID CANCER CLUSTER 5 135All SZGR 2.0 genes in this pathway
HEIDENBLAD AMPLICON 8Q24 DN 4628All SZGR 2.0 genes in this pathway
SHETH LIVER CANCER VS TXNIP LOSS PAM4 261153All SZGR 2.0 genes in this pathway
KOYAMA SEMA3B TARGETS UP 292168All SZGR 2.0 genes in this pathway
BENPORATH SOX2 TARGETS 734436All SZGR 2.0 genes in this pathway
BASSO B LYMPHOCYTE NETWORK 14396All SZGR 2.0 genes in this pathway
UEDA PERIFERAL CLOCK 169111All SZGR 2.0 genes in this pathway
PENG RAPAMYCIN RESPONSE UP 203130All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 20HR DN 10170All SZGR 2.0 genes in this pathway
WENG POR TARGETS GLOBAL UP 2014All SZGR 2.0 genes in this pathway
WENG POR TARGETS LIVER UP 4129All SZGR 2.0 genes in this pathway
MARTINEZ RB1 TARGETS UP 673430All SZGR 2.0 genes in this pathway
MARTINEZ TP53 TARGETS DN 593372All SZGR 2.0 genes in this pathway
MARTINEZ RB1 AND TP53 TARGETS DN 591366All SZGR 2.0 genes in this pathway
YAGI AML WITH T 8 21 TRANSLOCATION 368247All SZGR 2.0 genes in this pathway
HAHTOLA CTCL CUTANEOUS 2619All SZGR 2.0 genes in this pathway
HIRSCH CELLULAR TRANSFORMATION SIGNATURE UP 242159All SZGR 2.0 genes in this pathway
OHGUCHI LIVER HNF4A TARGETS DN 14985All SZGR 2.0 genes in this pathway
JUBAN TARGETS OF SPI1 AND FLI1 DN 9260All SZGR 2.0 genes in this pathway