Summary ?
GeneID84441
SymbolMAML2
SynonymsMAM-3|MAM2|MAM3|MLL-MAML2
Descriptionmastermind like transcriptional coactivator 2
ReferenceMIM:607537|HGNC:HGNC:16259|Ensembl:ENSG00000184384|HPRD:09608|Vega:OTTHUMG00000167677
Gene typeprotein-coding
Map location11q21
Pascal p-value0.337
Fetal beta0.538
eGeneMyers' 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
MAML2chr1195825783GANM_032427p.471S>LmissenseSchizophreniaDNM:Fromer_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs2166458chr2215716168MAML2844410.17trans

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
KEGG NOTCH SIGNALING PATHWAY 4735All SZGR 2.0 genes in this pathway
PID NOTCH PATHWAY 5949All SZGR 2.0 genes in this pathway
PID HES HEY PATHWAY 4839All SZGR 2.0 genes in this pathway
REACTOME PRE NOTCH TRANSCRIPTION AND TRANSLATION 2917All SZGR 2.0 genes in this pathway
REACTOME PRE NOTCH EXPRESSION AND PROCESSING 4424All SZGR 2.0 genes in this pathway
REACTOME NOTCH1 INTRACELLULAR DOMAIN REGULATES TRANSCRIPTION 4628All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY NOTCH1 7046All SZGR 2.0 genes in this pathway
REACTOME GENERIC TRANSCRIPTION PATHWAY 352181All SZGR 2.0 genes in this pathway
REACTOME NOTCH HLH TRANSCRIPTION PATHWAY 138All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY NOTCH 10364All SZGR 2.0 genes in this pathway
FULCHER INFLAMMATORY RESPONSE LECTIN VS LPS DN 463290All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS BASAL DN 455304All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL DN 460312All SZGR 2.0 genes in this pathway
OSMAN BLADDER CANCER DN 406230All SZGR 2.0 genes in this pathway
MYLLYKANGAS AMPLIFICATION HOT SPOT 23 2413All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER WITH H3K9ME3 UP 14175All SZGR 2.0 genes in this pathway
HUANG DASATINIB RESISTANCE UP 8153All SZGR 2.0 genes in this pathway
GRESHOCK CANCER COPY NUMBER UP 323240All SZGR 2.0 genes in this pathway
COULOUARN TEMPORAL TGFB1 SIGNATURE UP 10968All SZGR 2.0 genes in this pathway
MARTENS BOUND BY PML RARA FUSION 456287All SZGR 2.0 genes in this pathway
STAMBOLSKY RESPONSE TO VITAMIN D3 DN 2614All SZGR 2.0 genes in this pathway
HOELZEL NF1 TARGETS UP 13993All SZGR 2.0 genes in this pathway
KOINUMA TARGETS OF SMAD2 OR SMAD3 824528All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 1ST EGF PULSE ONLY 1839928All SZGR 2.0 genes in this pathway