Gene Page: ATG12

Summary ?
GeneID9140
SymbolATG12
SynonymsAPG12|APG12L|FBR93|HAPG12
Descriptionautophagy related 12
ReferenceMIM:609608|HGNC:HGNC:588|Ensembl:ENSG00000145782|HPRD:08496|Vega:OTTHUMG00000128889
Gene typeprotein-coding
Map location5q21-q22
Pascal p-value0.108
TADA p-value5.53E-4
Fetal beta1.262
eGeneCaudate basal ganglia
Cerebellum
Myers' cis & trans
SupportCompositeSet

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
ATG12chr5115173428..115173432GGAGTGNM_001277783
NM_004707
NR_033362
NR_033363
NR_073603
NR_073604
NR_073605		.
.
.
.
.
.
.		intronic
frameshift
npcRNA
npcRNA
npcRNA
intronic
intronic		SchizophreniaDNM:Fromer_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs4366501chr11133380324ATG1291400.01trans

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
UROS0.820.72
NDUFB60.790.72
C1orf310.780.77
HINT10.770.71
TXNL4A0.760.70
CALM20.750.83
PTS0.750.78
THOC70.750.75
C6orf570.750.68
UQCRFSL10.750.69
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
AC020763.2-0.43-0.45
CASKIN2-0.41-0.45
MTSS1L-0.41-0.40
FAM59B-0.40-0.44
EPHA2-0.40-0.43
CDC42EP4-0.40-0.44
SMTN-0.39-0.46
AF347015.18-0.38-0.21
PLXNB1-0.38-0.43
TENC1-0.38-0.40

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
ATG10APG10 | APG10L | DKFZp586I0418 | FLJ13954 | pp12616ATG10 autophagy related 10 homolog (S. cerevisiae)-HPRD12482611 
ATG10APG10 | APG10L | DKFZp586I0418 | FLJ13954 | pp12616ATG10 autophagy related 10 homolog (S. cerevisiae)Affinity Capture-MSBioGRID17353931 
ATG16L1APG16L | ATG16L | FLJ00045 | FLJ10035 | FLJ10828 | FLJ22677 | IBD10 | WDR30ATG16 autophagy related 16-like 1 (S. cerevisiae)Affinity Capture-MSBioGRID17353931 
ATG3APG3 | APG3-LIKE | APG3L | DKFZp564M1178 | FLJ22125 | MGC15201 | PC3-96ATG3 autophagy related 3 homolog (S. cerevisiae)-HPRD,BioGRID11825910 
ATG5APG5 | APG5-LIKE | APG5L | ASP | hAPG5ATG5 autophagy related 5 homolog (S. cerevisiae)-HPRD11825910 |12482611 
ATG5APG5 | APG5-LIKE | APG5L | ASP | hAPG5ATG5 autophagy related 5 homolog (S. cerevisiae)Affinity Capture-MSBioGRID17353931 
ATG7APG7-LIKE | APG7L | DKFZp434N0735 | GSA7ATG7 autophagy related 7 homolog (S. cerevisiae)-HPRD11890701 |12482611 
AUP1-ancient ubiquitous protein 1Affinity Capture-MSBioGRID17353931 
DHX36DDX36 | G4R1 | KIAA1488 | MLEL1 | RHAUDEAH (Asp-Glu-Ala-His) box polypeptide 36Affinity Capture-MSBioGRID17353931 
KRTAP4-12KAP4.12 | KRTAP4.12keratin associated protein 4-12Two-hybridBioGRID16189514 
MDFII-MF | I-mfaMyoD family inhibitorTwo-hybridBioGRID16189514 
OTUD4DKFZp434I0721 | DUBA6 | HIN1 | HSHIN1 | KIAA1046OTU domain containing 4Affinity Capture-MSBioGRID17353931 
PLSCR1MMTRA1Bphospholipid scramblase 1Two-hybridBioGRID16189514 
PTK2FADK | FAK | FAK1 | pp125FAKPTK2 protein tyrosine kinase 2Two-hybridBioGRID16189514 
SF3A1PRP21 | PRPF21 | SAP114 | SF3A120splicing factor 3a, subunit 1, 120kDaAffinity Capture-MSBioGRID17353931 
SF3B1PRP10 | PRPF10 | SAP155 | SF3b155splicing factor 3b, subunit 1, 155kDaAffinity Capture-MSBioGRID17353931 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG REGULATION OF AUTOPHAGY 3530All SZGR 2.0 genes in this pathway
KEGG RIG I LIKE RECEPTOR SIGNALING PATHWAY 7151All SZGR 2.0 genes in this pathway
REACTOME NEGATIVE REGULATORS OF RIG I MDA5 SIGNALING 3119All SZGR 2.0 genes in this pathway
REACTOME RIG I MDA5 MEDIATED INDUCTION OF IFN ALPHA BETA PATHWAYS 7357All SZGR 2.0 genes in this pathway
REACTOME INNATE IMMUNE SYSTEM 279178All SZGR 2.0 genes in this pathway
REACTOME IMMUNE SYSTEM 933616All SZGR 2.0 genes in this pathway
WATANABE RECTAL CANCER RADIOTHERAPY RESPONSIVE DN 9251All SZGR 2.0 genes in this pathway
PUIFFE INVASION INHIBITED BY ASCITES DN 14591All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382904All SZGR 2.0 genes in this pathway
DEURIG T CELL PROLYMPHOCYTIC LEUKEMIA DN 320184All SZGR 2.0 genes in this pathway
WANG CLIM2 TARGETS DN 186114All SZGR 2.0 genes in this pathway
GINESTIER BREAST CANCER ZNF217 AMPLIFIED UP 7848All SZGR 2.0 genes in this pathway
OSWALD HEMATOPOIETIC STEM CELL IN COLLAGEN GEL DN 275168All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA ANAPLASTIC UP 722443All SZGR 2.0 genes in this pathway
HAHTOLA MYCOSIS FUNGOIDES SKIN UP 177113All SZGR 2.0 genes in this pathway
HAHTOLA MYCOSIS FUNGOIDES CD4 DN 11671All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE UP 530342All SZGR 2.0 genes in this pathway
BARRIER CANCER RELAPSE TUMOR SAMPLE UP 1612All SZGR 2.0 genes in this pathway
BERENJENO TRANSFORMED BY RHOA DN 394258All 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
NUYTTEN EZH2 TARGETS UP 1037673All SZGR 2.0 genes in this pathway
BENPORATH MYC MAX TARGETS 775494All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT OK VS DONOR UP 555346All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 48HR UP 180125All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 STIMULATED 1022619All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 UNSTIMULATED 1229713All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS SILENCED BY METHYLATION UP 461298All SZGR 2.0 genes in this pathway
MITSIADES RESPONSE TO APLIDIN UP 439257All SZGR 2.0 genes in this pathway
BOCHKIS FOXA2 TARGETS 425261All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103714All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS DN 19721213All SZGR 2.0 genes in this pathway
KOINUMA TARGETS OF SMAD2 OR SMAD3 824528All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG RXRA BOUND 8D 882506All SZGR 2.0 genes in this pathway
MIZUSHIMA AUTOPHAGOSOME FORMATION 1915All SZGR 2.0 genes in this pathway