BDgene

Core Gene from Gene Prioritization Pathways from PBA (Pathway-based Analysis) Enriched Pathways for Core Genes Enriched Pathways for Cross-disorder Genes

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CNV Report

Basic Info

Name	CNV_Malhotra[2011]_2
Symbol in Literature	400-10117
Location	chr3:197417247-198249463 (NCBI Build 36 (hg18))
Type	deletion
Size	832217 bp
Inheritance	De Novo
Band	3q29

CNV related studies (count: 1)

Reference	Author Comments
Malhotra, D.,2011	This is a de novo CNV discovered and validated in our study. This is a de novo CNV discovered and validated in our study.

CNV related genes (count: 8)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
WDR53	WD repeat domain 53	3q29	1(0/1/0)
ZDHHC19	zinc finger, DHHC-type containing 19	3q29	1(0/1/0)
SMCO1	single-pass membrane protein with coiled-coil domains 1	3q29	1(0/1/0)
UBXN7	UBX domain protein 7	3q29	1(0/1/0)
NCBP2	nuclear cap binding protein subunit 2, 20kDa	3q29	1(0/1/0)
TM4SF19	transmembrane 4 L six family member 19	3q29	1(0/1/0)
TCTEX1D2	Tctex1 domain containing 2	3q29	1(0/1/0)
RPSAP30	ribosomal protein SA pseudogene 30	3q29	1(0/1/0)

View in gBrowse

Region: chr3:197417247..198249463 (NCBI Build 36 (hg18)) View in gBrowse
(The coordinate of the CNV has been transformed to NCBI Build 37 (hg19) in gBrowse)