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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

CNV Report

Basic Info

Name	CNV_Williams[2010]_34
Symbol in Literature	Sample ID: 35 (case)
Location	chr16:29342178-31155425 (NCBI Build 36.1 (hg18))
Type	Loss
Size	1813248 bp
Inheritance	De novo
Band	16p11.2

CNV related studies (count: 1)

Reference	Author Comments
Williams NM, 2010	Rare CNV larger than 500kb identified in children with ADHD. Rare CNV larger than 500kb identified in children with ADHD.

CNV related genes (count: 82)

Literature-origin genes (count: 0)

Genes from other sources (count: 82)

Approved Symbol	Approved Name	Location	Source
GDPD3	glycerophosphodiester phosphodiesterase domain containing 3	16p11.2	Mapped by CNV
SEPHS2	selenophosphate synthetase 2	16p11.1	Mapped by CNV
CD2BP2	CD2 (cytoplasmic tail) binding protein 2	16p11.2	Mapped by CNV
MIR762	microRNA 762	16	Mapped by CNV
PHKG2	phosphorylase kinase, gamma 2 (testis)	16p11.2	Mapped by CNV
MYST1	MYST histone acetyltransferase 1	16p11.1	Mapped by CNV
CA5P	carbonic anhydrase V pseudogene	16p12-p11.2	Mapped by CNV
MYLPF	myosin light chain, phosphorylatable, fast skeletal muscle	16p11.2	Mapped by CNV
MVP	major vault protein	16p11.2	Mapped by CNV
ORAI3	ORAI calcium release-activated calcium modulator 3	16p11.2	Mapped by CNV
YPEL3	yippee-like 3 (Drosophila)	16p11	Mapped by CNV
MAZ	MYC-associated zinc finger protein (purine-binding transcription factor)	16p11.2	Mapped by CNV
CORO1A	coronin, actin binding protein, 1A	16p11.2	Mapped by CNV
MAPK3	mitogen-activated protein kinase 3	16p11.2	Mapped by CNV
ALDOA	aldolase A, fructose-bisphosphate	16p11.2	Mapped by CNV
FBRS	fibrosin	16p11.2	Mapped by CNV
VKORC1	vitamin K epoxide reductase complex, subunit 1	16p11.2	Mapped by CNV
FBXL19	F-box and leucine-rich repeat protein 19	16p11.2	Mapped by CNV
FBXL19-AS1	FBXL19 antisense RNA 1 (non-protein coding)	16p11.2	Mapped by CNV
FAM57B	family with sequence similarity 57, member B	16p11.2	Mapped by CNV
ZNF646	zinc finger protein 646	16p11.2	Mapped by CNV
ZNF629	zinc finger protein 629	16p11.2	Mapped by CNV
ZNF48	zinc finger protein 48	16p11.2	Mapped by CNV
ZG16	zymogen granule protein 16 homolog (rat)	16p11.2	Mapped by CNV
FUS	fused in sarcoma	16p11.2	Mapped by CNV
RNU7-61P	RNA, U7 small nuclear 61 pseudogene	16p11.2	Mapped by CNV
RNF40	ring finger protein 40	16p11.2-p11.1	Mapped by CNV
CDIPT	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	16p12.1	Mapped by CNV
ZNF668	zinc finger protein 668	16p11.2	Mapped by CNV
TAOK2	TAO kinase 2	16p11.2	Mapped by CNV
BOLA2B	bolA homolog 2B (E. coli)	16p11.2	Mapped by CNV
ITGAL	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	16p13.1-p11	Mapped by CNV
SULT1A3	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3	16p11.2	Mapped by CNV
BOLA2	bolA homolog 2 (E. coli)	16p11.2	Mapped by CNV
SULT1A4	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4	16p11.2	Mapped by CNV
TBC1D10B	TBC1 domain family, member 10B	16p11.2	Mapped by CNV
ZNF688	zinc finger protein 688	16p11.2	Mapped by CNV
KCTD13	potassium channel tetramerisation domain containing 13	16p11.2	Mapped by CNV
ZNF689	zinc finger protein 689	16p11.2	Mapped by CNV
BCL7C	B-cell CLL/lymphoma 7C	16p11	Mapped by CNV
ZNF747	zinc finger protein 747	16p11.2	Mapped by CNV
SRCAP	Snf2-related CREBBP activator protein	16p11.2	Mapped by CNV
ZNF768	zinc finger protein 768	16p11.2	Mapped by CNV
ZNF764	zinc finger protein 764	16p11.2	Mapped by CNV
ZNF771	zinc finger protein 771	16p11.2	Mapped by CNV
STX1B	syntaxin 1B	16p12-p11	Mapped by CNV
KIF22	kinesin family member 22	16p11.2	Mapped by CNV
ZNF785	zinc finger protein 785	16p11.2	Mapped by CNV
STX4	syntaxin 4	16p11.2	Mapped by CNV
DCTPP1	dCTP pyrophosphatase 1	16p11.2	Mapped by CNV
PYCARD	PYD and CARD domain containing	16p11.2	Mapped by CNV
SPN	sialophorin	16p11.2	Mapped by CNV
PYDC1	PYD (pyrin domain) containing 1	16p11.2	Mapped by CNV
ASPHD1	aspartate beta-hydroxylase domain containing 1	16p11.2	Mapped by CNV
QPRT	quinolinate phosphoribosyltransferase	16p11.2	Mapped by CNV
TMEM219	transmembrane protein 219	16p11.2	Mapped by CNV
CTF2P	cardiotrophin 2, pseudogene	16p11.2	Mapped by CNV
TBX6	T-box 6	16p11.2	Mapped by CNV
CTF1	cardiotrophin 1	16p11.2	Mapped by CNV
BCKDK	branched chain ketoacid dehydrogenase kinase	16p11.2	Mapped by CNV
SLX1A	SLX1 structure-specific endonuclease subunit homolog A (S. cerevisiae)	16p11.2	Mapped by CNV
SLX1B	SLX1 structure-specific endonuclease subunit homolog B (S. cerevisiae)	16p11.2	Mapped by CNV
PRSS36	protease, serine, 36	16p11.2	Mapped by CNV
SNORA30	small nucleolar RNA, H/ACA box 30	16p11.2	Mapped by CNV
PRRT2	proline-rich transmembrane protein 2	16p11.2	Mapped by CNV
TRIM72	tripartite motif containing 72	16p11.2	Mapped by CNV
PRR14	proline rich 14	16p11.2	Mapped by CNV
HIRIP3	HIRA interacting protein 3	16p12.1	Mapped by CNV
PRSS8	protease, serine, 8	16p11.2	Mapped by CNV
PRSS53	protease, serine, 53	16p11.2	Mapped by CNV
SLC7A5P1	solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 pseudogene 1	16p11.2	Mapped by CNV
HSD3B7	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	16p11.2	Mapped by CNV
SEZ6L2	seizure related 6 homolog (mouse)-like 2	16p12.1	Mapped by CNV
DOC2A	double C2-like domains, alpha	16p11.2	Mapped by CNV
C16orf92	chromosome 16 open reading frame 92	16p11.2	Mapped by CNV
C16orf93	chromosome 16 open reading frame 93	16p11.2	Mapped by CNV
SEPT1	septin 1	16p11.1	Mapped by CNV
PPP4C	protein phosphatase 4, catalytic subunit	16p11.2	Mapped by CNV
SETD1A	SET domain containing 1A	16p11.2	Mapped by CNV
INO80E	INO80 complex subunit E	16p11.2	Mapped by CNV
C16orf53	chromosome 16 open reading frame 53	16p11.2	Mapped by CNV
C16orf54	chromosome 16 open reading frame 54	16p11.2	Mapped by CNV

View in gBrowse

Region: chr16:29342178..31155425 (NCBI Build 36.1 (hg18)) View in gBrowse
(The coordinate of the CNV has been transformed to NCBI Build 37 (hg19) in gBrowse)