Gene Page: SPAG9

Summary ?
GeneID9043
SymbolSPAG9
SynonymsCT89|HLC-6|HLC4|HLC6|JIP-4|JIP4|JLP|PHET|PIG6
Descriptionsperm associated antigen 9
ReferenceMIM:605430|HGNC:HGNC:14524|Ensembl:ENSG00000008294|HPRD:10398|Vega:OTTHUMG00000162316
Gene typeprotein-coding
Map location17q21.33
Pascal p-value0.006
Sherlock p-value0.005
Fetal beta1.624
eGeneMyers' cis & trans
SupportCompositeSet
Darnell 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.

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
SPAG9chr1749048133CTNM_001130527
NM_001130528
NM_001251971
NM_003971		p.1252S>N
p.1262S>N
p.1118S>N
p.1248S>N		missense
missense
missense
missense		SchizophreniaDNM:Fromer_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs693742chr3127494235SPAG990430.18trans
rs9289452chr3133429642SPAG990430.15trans
rs3926389chr5150677805SPAG990430.17trans
rs2068673chr1260333402SPAG990430.01trans
rs12876724chr1367078988SPAG990430.06trans

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
COPS30.890.86
RSL24D10.880.85
DRG10.880.84
TXNL10.880.81
PPA10.880.80
GLRX30.860.85
CHMP50.860.87
MMADHC0.860.84
C1QBP0.860.90
OLA10.860.82
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
AF347015.26-0.60-0.64
AF347015.2-0.57-0.59
MT-CYB-0.56-0.58
AF347015.8-0.56-0.58
AF347015.33-0.56-0.60
AF347015.15-0.56-0.59
GPT-0.55-0.60
MT-CO2-0.55-0.54
AF347015.18-0.53-0.64
FAM38A-0.53-0.58

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
PID ARF6 TRAFFICKING PATHWAY 4934All SZGR 2.0 genes in this pathway
PARENT MTOR SIGNALING UP 567375All SZGR 2.0 genes in this pathway
ZHONG RESPONSE TO AZACITIDINE AND TSA UP 183119All SZGR 2.0 genes in this pathway
SENGUPTA NASOPHARYNGEAL CARCINOMA WITH LMP1 UP 408247All SZGR 2.0 genes in this pathway
TURASHVILI BREAST LOBULAR CARCINOMA VS DUCTAL NORMAL UP 6938All SZGR 2.0 genes in this pathway
THUM SYSTOLIC HEART FAILURE DN 244147All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL DN 460312All SZGR 2.0 genes in this pathway
RODRIGUES NTN1 TARGETS DN 158102All SZGR 2.0 genes in this pathway
UDAYAKUMAR MED1 TARGETS DN 240171All SZGR 2.0 genes in this pathway
WAMUNYOKOLI OVARIAN CANCER LMP DN 199124All SZGR 2.0 genes in this pathway
ENK UV RESPONSE EPIDERMIS DN 508354All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN 855609All SZGR 2.0 genes in this pathway
SPIELMAN LYMPHOBLAST EUROPEAN VS ASIAN DN 584395All SZGR 2.0 genes in this pathway
GROSS HYPOXIA VIA ELK3 ONLY UP 3318All SZGR 2.0 genes in this pathway
NUYTTEN EZH2 TARGETS UP 1037673All SZGR 2.0 genes in this pathway
BUYTAERT PHOTODYNAMIC THERAPY STRESS UP 811508All SZGR 2.0 genes in this pathway
BENPORATH NANOG TARGETS 988594All SZGR 2.0 genes in this pathway
BENPORATH OCT4 TARGETS 290172All SZGR 2.0 genes in this pathway
BENPORATH SOX2 TARGETS 734436All SZGR 2.0 genes in this pathway
BENPORATH NOS TARGETS 179105All SZGR 2.0 genes in this pathway
GEORGES TARGETS OF MIR192 AND MIR215 893528All SZGR 2.0 genes in this pathway
NIKOLSKY BREAST CANCER 17Q21 Q25 AMPLICON 335181All SZGR 2.0 genes in this pathway
PENG LEUCINE DEPRIVATION UP 14293All SZGR 2.0 genes in this pathway
SANA TNF SIGNALING UP 8356All SZGR 2.0 genes in this pathway
PARK HSC MARKERS 4431All SZGR 2.0 genes in this pathway
REN ALVEOLAR RHABDOMYOSARCOMA DN 408274All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 14HR DN 298200All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP 16911088All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 STIMULATED 1022619All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS UP 317208All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS SILENCED BY METHYLATION UP 461298All SZGR 2.0 genes in this pathway
MATZUK SPERMATOZOA 11477All SZGR 2.0 genes in this pathway
CONRAD GERMLINE STEM CELL 138All SZGR 2.0 genes in this pathway
AGUIRRE PANCREATIC CANCER COPY NUMBER UP 298174All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 1HR DN 222147All SZGR 2.0 genes in this pathway
DORMOY ELAVL1 TARGETS 1710All SZGR 2.0 genes in this pathway
KOINUMA TARGETS OF SMAD2 OR SMAD3 824528All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG BOUND 8D 658397All SZGR 2.0 genes in this pathway
PHONG TNF RESPONSE VIA P38 COMPLETE 227151All SZGR 2.0 genes in this pathway