STANDARD_NAME	OKAWA_NEUROBLASTOMA_1P36_31_DELETION
SYSTEMATIC_NAME	M4786
COLLECTION	C2:CGP
MSIGDB_URL	https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/OKAWA_NEUROBLASTOMA_1P36_31_DELETION
NAMESPACE	HUMAN_GENE_SYMBOL
DESCRIPTION_BRIEF	Genes in the smallest region of deletion (SRD) in 1p36.3 area in neuroblastoma samples.
DESCRIPTION_FULL	Neuroblastomas are characterized by 1p deletions, suggesting that a tumor suppressor gene (TSG) resides in this region. We have mapped the smallest region of deletion (SRD) to a 2 Mb region of 1p36.31 using microsatellite and single nucleotide polymorphisms. We have identified 23 genes in this region, and we have analysed these genes for mutations and RNA expression patterns to identify candidate TSGs. We sequenced the coding exons of these genes in 30 neuroblastoma cell lines. Although rare mutations were found in 10 of the 23 genes, none showed a pattern of genetic change consistent with homozygous inactivation. We examined the expression of these 23 genes in 20 neuroblastoma cell lines, and most showed readily detectable expression, and no correlation with 1p deletion. However, 7 genes showed uniformly low expression in the lines, and 2 genes (CHD5, RNF207) had virtually absent expression, consistent with the expected pattern for a TSG. Our mutation and expression analysis in neuroblastoma cell lines, combined with expression analysis in normal tissues, putative function and prior implication in neuroblastoma pathogenesis, suggests that the most promising TSG deleted from the 1p36 SRD is CHD5, but TNFRSF25, CAMTA1 and AJAP1 are also viable candidates.
PMID	17667943
GEOID	
AUTHORS	Okawa ER,Gotoh T,Manne J,Igarashi J,Fujita T,Silverman KA,Xhao H,Mosse YP,White PS,Brodeur GM
CONTRIBUTOR	Jessica Robertson
CONTRIBUTOR_ORG	MSigDB Team
EXACT_SOURCE	Table 1
FILTERED_BY_SIMILARITY	
EXTERNAL_NAMES_FOR_SIMILAR_TERMS	
EXTERNAL_DETAILS_URL	
SOURCE_MEMBERS	ACOT7,AJAP1,C1orf188,CAMTA1,CHD5,DNAJC11,ESPN,GPR153,HES2,HES3,ICMT,KCNAB2,KLHL21,NOL9,NPHP4,PHF13,PLEKHG5,RNF207,RPL22,TAS1R1,THAP3,TNFRSF25,ZBTB48
GENE_SYMBOLS	ACOT7,AJAP1,RNF207,CAMTA1,CHD5,DNAJC11,ESPN,GPR153,HES2,HES3,ICMT,KCNAB2,KLHL21,NOL9,NPHP4,PHF13,PLEKHG5,RNF207,RPL22,TAS1R1,THAP3,TNFRSF25,ZBTB48
FOUNDER_NAMES