Gene Page: PSAP

Summary ?
GeneID5660
SymbolPSAP
SynonymsGLBA|SAP1
Descriptionprosaposin
ReferenceMIM:176801|HGNC:HGNC:9498|Ensembl:ENSG00000197746|HPRD:01460|Vega:OTTHUMG00000018429
Gene typeprotein-coding
Map location10q21-q22
Pascal p-value0.747
Sherlock p-value0.983
Fetal beta-1.104
eGeneMeta
SupportCompositeSet
Darnell FMRP targets
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.
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
AssociationA combined odds ratio method (Sun et al. 2008), association studies1Link to SZGene
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophreniasClick to show details

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
PSAPchr1073610978TCNM_001042465
NM_001042465
NM_001042466
NM_001042466
NM_002778
NM_002778		p.1M>V
p.1M>V
p.1M>V
p.1M>V
p.1M>V
p.1M>V		missense
start-lost
missense
start-lost
missense
start-lost		SchizophreniaDNM: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
C12orf100.940.93
SF3B50.940.95
NDUFB110.930.94
DCTN30.920.92
PSMA70.920.92
PSMB50.920.92
PSMB30.920.91
EIF3I0.900.90
EXOSC50.900.89
CUEDC20.900.92
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
AF347015.26-0.67-0.72
AF347015.8-0.65-0.66
AF347015.2-0.64-0.67
AF347015.15-0.63-0.66
AF347015.33-0.62-0.65
MT-CYB-0.62-0.65
AF347015.18-0.62-0.71
AF347015.27-0.61-0.66
MT-CO2-0.61-0.61
MT-ATP8-0.60-0.67

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0008289lipid bindingTAS1454804 
GO:0008047enzyme activator activityTAS2717620 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007040lysosome organizationIEA-
GO:0006687glycosphingolipid metabolic processTAS1454804 
GO:0006665sphingolipid metabolic processIEA-
GO:0006629lipid metabolic processIEA-
GO:0006869lipid transportTAS1454804 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005794Golgi apparatusIDA18029348 
GO:0005615extracellular spaceTAS1454804 
GO:0005764lysosomeIEA-
GO:0016021integral to membraneTAS1454804 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG LYSOSOME 12183All SZGR 2.0 genes in this pathway
REACTOME GLYCOSPHINGOLIPID METABOLISM 3822All SZGR 2.0 genes in this pathway
REACTOME PHOSPHOLIPID METABOLISM 198112All SZGR 2.0 genes in this pathway
REACTOME RESPONSE TO ELEVATED PLATELET CYTOSOLIC CA2 8956All SZGR 2.0 genes in this pathway
REACTOME SPHINGOLIPID METABOLISM 6940All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF LIPIDS AND LIPOPROTEINS 478302All SZGR 2.0 genes in this pathway
REACTOME HEMOSTASIS 466331All SZGR 2.0 genes in this pathway
REACTOME PLATELET ACTIVATION SIGNALING AND AGGREGATION 208138All SZGR 2.0 genes in this pathway
ONKEN UVEAL MELANOMA UP 783507All SZGR 2.0 genes in this pathway
BERTUCCI MEDULLARY VS DUCTAL BREAST CANCER UP 206111All SZGR 2.0 genes in this pathway
GAZDA DIAMOND BLACKFAN ANEMIA ERYTHROID DN 493298All SZGR 2.0 genes in this pathway
WANG LMO4 TARGETS DN 352225All SZGR 2.0 genes in this pathway
KINSEY TARGETS OF EWSR1 FLII FUSION DN 329219All SZGR 2.0 genes in this pathway
JAATINEN HEMATOPOIETIC STEM CELL DN 226132All SZGR 2.0 genes in this pathway
BERENJENO TRANSFORMED BY RHOA DN 394258All SZGR 2.0 genes in this pathway
MISSIAGLIA REGULATED BY METHYLATION UP 12678All SZGR 2.0 genes in this pathway
DIRMEIER LMP1 RESPONSE LATE DN 3222All SZGR 2.0 genes in this pathway
MARTORIATI MDM4 TARGETS FETAL LIVER DN 514319All SZGR 2.0 genes in this pathway
SPIELMAN LYMPHOBLAST EUROPEAN VS ASIAN DN 584395All SZGR 2.0 genes in this pathway
SCHAEFFER PROSTATE DEVELOPMENT 6HR DN 514330All SZGR 2.0 genes in this pathway
PENG LEUCINE DEPRIVATION UP 14293All SZGR 2.0 genes in this pathway
TARTE PLASMA CELL VS PLASMABLAST UP 398262All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL QTL TRANS 882572All SZGR 2.0 genes in this pathway
NADLER OBESITY UP 6134All SZGR 2.0 genes in this pathway
HESS TARGETS OF HOXA9 AND MEIS1 DN 7748All SZGR 2.0 genes in this pathway
MCCLUNG DELTA FOSB TARGETS 8WK 4738All SZGR 2.0 genes in this pathway
YAMAZAKI TCEB3 TARGETS UP 175116All SZGR 2.0 genes in this pathway
BURTON ADIPOGENESIS 8 8657All SZGR 2.0 genes in this pathway
JOSEPH RESPONSE TO SODIUM BUTYRATE UP 3121All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS SILENCED BY METHYLATION UP 461298All SZGR 2.0 genes in this pathway
MARTINEZ RB1 TARGETS UP 673430All SZGR 2.0 genes in this pathway
MARTINEZ TP53 TARGETS UP 602364All SZGR 2.0 genes in this pathway
MARTINEZ RB1 AND TP53 TARGETS UP 601369All SZGR 2.0 genes in this pathway
SARRIO EPITHELIAL MESENCHYMAL TRANSITION DN 154101All SZGR 2.0 genes in this pathway
GRADE COLON CANCER UP 871505All SZGR 2.0 genes in this pathway
PARK TRETINOIN RESPONSE AND PML RARA FUSION 3021All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS DN 366257All SZGR 2.0 genes in this pathway
RUIZ TNC TARGETS UP 153107All SZGR 2.0 genes in this pathway
SWEET LUNG CANCER KRAS UP 491316All SZGR 2.0 genes in this pathway
CHEN METABOLIC SYNDROM NETWORK 1210725All SZGR 2.0 genes in this pathway
HSIAO HOUSEKEEPING GENES 389245All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA CHEMOTAXIS DN 457302All SZGR 2.0 genes in this pathway
VALK AML CLUSTER 5 3324All SZGR 2.0 genes in this pathway
CAIRO LIVER DEVELOPMENT DN 222141All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103714All SZGR 2.0 genes in this pathway
MARTENS BOUND BY PML RARA FUSION 456287All SZGR 2.0 genes in this pathway
KIM ALL DISORDERS OLIGODENDROCYTE NUMBER CORR UP 756494All SZGR 2.0 genes in this pathway
KIM BIPOLAR DISORDER OLIGODENDROCYTE DENSITY CORR UP 682440All SZGR 2.0 genes in this pathway
KIM ALL DISORDERS CALB1 CORR UP 548370All SZGR 2.0 genes in this pathway
WANG RESPONSE TO GSK3 INHIBITOR SB216763 UP 397206All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 3 UP 430288All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-130/301109711041A,m8hsa-miR-130abrainCAGUGCAAUGUUAAAAGGGCAU
hsa-miR-301CAGUGCAAUAGUAUUGUCAAAGC
hsa-miR-130bbrainCAGUGCAAUGAUGAAAGGGCAU
hsa-miR-454-3pUAGUGCAAUAUUGCUUAUAGGGUUU
miR-1817027091A,m8hsa-miR-181abrainAACAUUCAACGCUGUCGGUGAGU
hsa-miR-181bSZAACAUUCAUUGCUGUCGGUGGG
hsa-miR-181cbrainAACAUUCAACCUGUCGGUGAGU
hsa-miR-181dbrainAACAUUCAUUGUUGUCGGUGGGUU
miR-1910961102m8hsa-miR-19aUGUGCAAAUCUAUGCAAAACUGA
hsa-miR-19bUGUGCAAAUCCAUGCAAAACUGA
miR-242983041Ahsa-miR-24SZUGGCUCAGUUCAGCAGGAACAG