Human Gene Set: STARK_HYPPOCAMPUS_22Q11_DELETION_UP

For the Mouse gene set with the same name, see STARK_HYPPOCAMPUS_22Q11_DELETION_UP

Standard name STARK_HYPPOCAMPUS_22Q11_DELETION_UP
Systematic name M12050
Brief description Genes up-regulated in hyppocampus of mice carrying a hemizygotic microdeletion in the 22q11.2 region.
Full description or abstract Individuals with 22q11.2 microdeletions show behavioral and cognitive deficits and are at high risk of developing schizophrenia. We analyzed an engineered mouse strain carrying a chromosomal deficiency spanning a segment syntenic to the human 22q11.2 locus. We uncovered a previously unknown alteration in the biogenesis of microRNAs (miRNAs) and identified a subset of brain miRNAs affected by the microdeletion. We provide evidence that the abnormal miRNA biogenesis emerges because of haploinsufficiency of the Dgcr8 gene, which encodes an RNA-binding moiety of the 'microprocessor' complex and contributes to the behavioral and neuronal deficits associated with the 22q11.2 microdeletion.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 18469815   Authors: Stark KL,Xu B,Bagchi A,Lai WS,Liu H,Hsu R,Wan X,Pavlidis P,Mills AA,Karayiorgou M,Gogos JA
Exact source Table 1S: HPC up
Related gene sets (show 4 additional gene sets from the source publication)

(show 27 gene sets from the same authors)
External links
Filtered by similarity ?
Source species Mus musculus
Contributed by Jessica Robertson (MSigDB Team)
Source platform or
identifier namespace		 AFFY_Mouse430
Dataset references (show 1 datasets)
Download gene set format: grp | gmt | xml | json | TSV metadata
Compute overlaps ? (show collections to investigate for overlap with this gene set)
Compendia expression profiles ? NG-CHM interactive heatmaps
(Please note that clustering takes a few seconds)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)

Legacy heatmaps (PNG)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query Further investigate these 54 genes
Gene families ? Categorize these 54 genes by gene family
Show members (show 60 source identifiers mapped to 54 genes)
Version history 3.0: First introduced

See MSigDB license terms here. Please note that certain gene sets have special access terms.