Gene Page: OXA1L

Summary ?
GeneID5018
SymbolOXA1L
SynonymsOXA1
Descriptionoxidase (cytochrome c) assembly 1-like
ReferenceMIM:601066|HGNC:HGNC:8526|Ensembl:ENSG00000155463|HPRD:03043|Vega:OTTHUMG00000028691
Gene typeprotein-coding
Map location14q11.2
Pascal p-value0.885
Sherlock p-value0.666
Fetal beta0.672
eGeneCortex
Frontal Cortex BA9
Nucleus accumbens basal ganglia
Putamen basal ganglia
Myers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Guipponi_2014Whole Exome Sequencing analysis49 DNMs were identified by comparing the exome of 53 individuals with sporadic SCZ and of their non-affected parents
GSMA_IGenome scan meta-analysisPsr: 0.047 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
OXA1LCTNM_005015p.G197GsynonymousNANASchizophreniaDNM:Guipponi_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs11062486chr123185139OXA1L50180.12trans
rs678963811423241320OXA1LENSG00000155463.84.56185E-70.015589gtex_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.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
GDAP1L10.960.94
ZNF8210.950.90
TUBB0.950.91
PPP4C0.950.94
HN10.940.93
TRAF40.940.81
MARCKSL10.940.84
PPP1R14B0.940.83
CCDC28B0.940.88
DBN10.930.88
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
HLA-F-0.73-0.78
AIFM3-0.70-0.75
FBXO2-0.70-0.65
C5orf53-0.70-0.71
ALDOC-0.70-0.72
CLU-0.69-0.74
LDHD-0.68-0.68
HEPN1-0.68-0.77
AF347015.27-0.68-0.84
CSRP1-0.67-0.76

Section III. Gene Ontology annotation

Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006461protein complex assemblyTAS9247084 
GO:0009060aerobic respirationTAS9247084 
GO:0051205protein insertion into membraneIEA-
GO:0055114oxidation reductionTAS9247084 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005739mitochondrionIEA-
GO:0005746mitochondrial respiratory chainTAS9247084 
GO:0016020membraneIEA-
GO:0016021integral to membraneIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG PROTEIN EXPORT 2416All SZGR 2.0 genes in this pathway
KIM WT1 TARGETS DN 459276All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 3 DN 229142All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY SERUM DEPRIVATION UP 552347All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND SERUM DEPRIVATION UP 211136All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
DAIRKEE TERT TARGETS UP 380213All 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
PUJANA CHEK2 PCC NETWORK 779480All SZGR 2.0 genes in this pathway
ALCALA APOPTOSIS 8860All SZGR 2.0 genes in this pathway
LOPEZ MBD TARGETS 957597All SZGR 2.0 genes in this pathway
BENPORATH NANOG TARGETS 988594All SZGR 2.0 genes in this pathway
BENPORATH SOX2 TARGETS 734436All SZGR 2.0 genes in this pathway
FLECHNER PBL KIDNEY TRANSPLANT OK VS DONOR UP 151100All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN 546351All SZGR 2.0 genes in this pathway
NING CHRONIC OBSTRUCTIVE PULMONARY DISEASE UP 157105All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT OK VS DONOR UP 555346All SZGR 2.0 genes in this pathway
JIANG VHL TARGETS 13891All SZGR 2.0 genes in this pathway
KAAB HEART ATRIUM VS VENTRICLE DN 261183All SZGR 2.0 genes in this pathway
STEIN ESRRA TARGETS UP 388234All SZGR 2.0 genes in this pathway
RIZKI TUMOR INVASIVENESS 3D DN 270181All SZGR 2.0 genes in this pathway
RIZKI TUMOR INVASIVENESS 2D DN 6435All SZGR 2.0 genes in this pathway
ACEVEDO LIVER TUMOR VS NORMAL ADJACENT TISSUE UP 863514All 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
ROME INSULIN TARGETS IN MUSCLE UP 442263All SZGR 2.0 genes in this pathway
STEIN ESRRA TARGETS 535325All SZGR 2.0 genes in this pathway
CAIRO HEPATOBLASTOMA CLASSES UP 605377All SZGR 2.0 genes in this pathway
KIM ALL DISORDERS CALB1 CORR UP 548370All SZGR 2.0 genes in this pathway
FIGUEROA AML METHYLATION CLUSTER 1 UP 12561All SZGR 2.0 genes in this pathway
FIGUEROA AML METHYLATION CLUSTER 3 UP 17097All SZGR 2.0 genes in this pathway