Gene Page:CHMP2A

Summary?
GeneID 27243
Symbol CHMP2A
Synonyms BC-2|BC2|CHMP2|VPS2|VPS2A
Description charged multivesicular body protein 2A
Reference MIM:610893|HGNC:HGNC:30216|Ensembl:ENSG00000130724|HPRD:12520|Vega:OTTHUMG00000183547
Gene type protein-coding
Map location 19q
Pascal p-value 0.003
Sherlock p-value 0.224
TADA p-value 0.008
Fetal beta -0.705
eGene Cerebellum
Myers' cis & trans
Support CompositeSet

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DMG:Wockner_2014 Genome-wide DNA methylation analysis This dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 1
DNM:Fromer_2014 Whole Exome Sequencing analysis This study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.

Section I. Genetics and epigenetics annotation

@DNM table

Gene Chromosome Position Ref Alt Transcript AA change Mutation type Sift CG46 Trait Study
CHMP2A chr19 59063665 C T NM_014453
NM_198426		 p.103M>I
p.103M>I		 missense
missense		 Schizophrenia DNM:Fromer_2014

@Differentially methylated gene

Probe Chromosome Position Nearest gene P (dis) Beta (dis) FDR (dis) Study
cg21618549 19 59067270 CHMP2A;UBE2M 3.746E-4 0.334 0.043 DMG:Wockner_2014

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs10409262 chr19 58154954 CHMP2A 27243 0.09 cis
rs2948491 chrX 40180688 CHMP2A 27243 0.18 trans

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 name Pathway size # SZGR 2.0 genes in pathway Info
KEGG ENDOCYTOSIS 183 132 All SZGR 2.0 genes in this pathway
REACTOME MEMBRANE TRAFFICKING 129 74 All SZGR 2.0 genes in this pathway
REACTOME ENDOSOMAL SORTING COMPLEX REQUIRED FOR TRANSPORT ESCRT 27 15 All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL UP 450 256 All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE UP 530 342 All SZGR 2.0 genes in this pathway
BERENJENO TRANSFORMED BY RHOA DN 394 258 All SZGR 2.0 genes in this pathway
FARMER BREAST CANCER BASAL VS LULMINAL 330 215 All SZGR 2.0 genes in this pathway
YANG BREAST CANCER ESR1 LASER UP 34 25 All SZGR 2.0 genes in this pathway
SASAKI ADULT T CELL LEUKEMIA 176 122 All SZGR 2.0 genes in this pathway
PENG RAPAMYCIN RESPONSE UP 203 130 All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN 1237 837 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 20HR DN 101 70 All SZGR 2.0 genes in this pathway
ELLWOOD MYC TARGETS DN 40 27 All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 13 172 107 All SZGR 2.0 genes in this pathway
MARTENS TRETINOIN RESPONSE DN 841 431 All SZGR 2.0 genes in this pathway
金所有障碍少突细胞NUMBER CORR UP 756 494 All SZGR 2.0 genes in this pathway
KIM ALL DISORDERS DURATION CORR DN 146 90 All SZGR 2.0 genes in this pathway
LI DCP2 BOUND MRNA 89 57 All SZGR 2.0 genes in this pathway
JUBAN TARGETS OF SPI1 AND FLI1 UP 115 73 All SZGR 2.0 genes in this pathway
KUMAR PATHOGEN LOAD BY MACROPHAGES 275 155 All SZGR 2.0 genes in this pathway