Gene Page: HPS1

Summary ?
GeneID3257
SymbolHPS1
SynonymsBLOC3S1|HPS
DescriptionHPS1, biogenesis of lysosomal organelles complex 3 subunit 1
ReferenceMIM:604982|HGNC:HGNC:5163|Ensembl:ENSG00000107521|HPRD:05403|Vega:OTTHUMG00000018876
Gene typeprotein-coding
Map location10q23.1-q23.3
Pascal p-value0.002
Fetal beta-0.531
eGenePutamen basal ganglia

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophreniasClick to show details

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
HPS1chr10100185707GANM_000195.silentSchizophreniaDNM:Gulsuner_2013

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs1078642010100193054HPS1ENSG00000107521.147.34818E-70.0213630gtex_brain_putamen_basal
rs188672810100193679HPS1ENSG00000107521.146.66499E-70.0213005gtex_brain_putamen_basal
rs707194710100200797HPS1ENSG00000107521.142.75555E-60.025887gtex_brain_putamen_basal

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
LIU SOX4 TARGETS DN 309191All SZGR 2.0 genes in this pathway
WANG LMO4 TARGETS UP 372227All SZGR 2.0 genes in this pathway
WANG CLIM2 TARGETS UP 269146All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY SERUM DEPRIVATION DN 234147All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND DOXORUBICIN DN 770415All SZGR 2.0 genes in this pathway
XU HGF TARGETS REPRESSED BY AKT1 DN 9558All SZGR 2.0 genes in this pathway
HEIDENBLAD AMPLICON 8Q24 DN 4628All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK 16521023All SZGR 2.0 genes in this pathway
PUJANA ATM PCC NETWORK 1442892All SZGR 2.0 genes in this pathway
WEI MYCN TARGETS WITH E BOX 795478All SZGR 2.0 genes in this pathway
LIAO METASTASIS 539324All SZGR 2.0 genes in this pathway
NADLER HYPERGLYCEMIA AT OBESITY 5835All SZGR 2.0 genes in this pathway
CHIARETTI ACUTE LYMPHOBLASTIC LEUKEMIA ZAP70 6733All SZGR 2.0 genes in this pathway
KUMAR TARGETS OF MLL AF9 FUSION 405264All SZGR 2.0 genes in this pathway
JACKSON DNMT1 TARGETS DN 2521All SZGR 2.0 genes in this pathway
ZHANG BREAST CANCER PROGENITORS DN 14593All SZGR 2.0 genes in this pathway
BOCHKIS FOXA2 TARGETS 425261All SZGR 2.0 genes in this pathway
MOOTHA HUMAN MITODB 6 2002 429260All SZGR 2.0 genes in this pathway
MOOTHA MITOCHONDRIA 447277All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3K4ME2 491319All SZGR 2.0 genes in this pathway
SETLUR PROSTATE CANCER TMPRSS2 ERG FUSION DN 2012All SZGR 2.0 genes in this pathway
FOURNIER ACINAR DEVELOPMENT LATE 2 277172All SZGR 2.0 genes in this pathway
WANG RESPONSE TO GSK3 INHIBITOR SB216763 UP 397206All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS DN 19721213All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE VIA TP53 GROUP B 549316All SZGR 2.0 genes in this pathway
SERVITJA ISLET HNF1A TARGETS UP 163111All SZGR 2.0 genes in this pathway