ADHDgene Database

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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_Jarick[2012]_41
Symbol in Literature	chr22:17616020-19792353
Location	chr22:17616020-19792353 (NCBI36 / hg18)
Type	dup
Size	2176334 bp
Band	22q11.21

CNV related studies (count: 1)

Reference	Author Comments
Jarick, I., 2012	Rare CNV larger than 500 kb identified in the GWAS ADHD cases Rare CNV larger than 500 kb identified in the GWAS ADHD cases

CNV related genes (count: 59)

Literature-origin genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
COMT	catechol-O-methyltransferase	22q11.21	25(5/20/0)
ARVCF	armadillo repeat gene deleted in velocardiofacial syndrome	22q11.21	1(1/0/0)

Genes from other sources (count: 57)

Approved Symbol	Approved Name	Location	Source
MRPL40	mitochondrial ribosomal protein L40	22q11.2	Mapped by CNV
MIR649	microRNA 649	22	Mapped by CNV
SCARF2	scavenger receptor class F, member 2	22q11.21	Mapped by CNV
GGTLC3	gamma-glutamyltransferase light chain 3	22q11.21	Mapped by CNV
PI4KA	phosphatidylinositol 4-kinase, catalytic, alpha	22q11.21	Mapped by CNV
GGTLC5P	gamma-glutamyltransferase light chain 5 pseudogene	22q11.21	Mapped by CNV
RTN4R	reticulon 4 receptor	22q11	Mapped by CNV
USP41	ubiquitin specific peptidase 41	22q11.22	Mapped by CNV
GP1BB	glycoprotein Ib (platelet), beta polypeptide	22q11.21-q11.23	Mapped by CNV
GNB1L	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	22q11.2	Mapped by CNV
UFD1L	ubiquitin fusion degradation 1 like (yeast)	22q11.2	Mapped by CNV
P2RX6	purinergic receptor P2X, ligand-gated ion channel, 6	22q11.21	Mapped by CNV
P2RX6P	purinergic receptor P2X, ligand-gated ion channel, 6 pseudogene	22q11.21	Mapped by CNV
FAM108A5P	family with sequence similarity 108, member A5, pseudogene	22q11.21	Mapped by CNV
RPL7AP70	ribosomal protein L7a pseudogene 70	22q11.21	Mapped by CNV
AIFM3	apoptosis-inducing factor, mitochondrion-associated, 3	22q11.21	Mapped by CNV
RPL8P5	ribosomal protein L8 pseudogene 5	22q11.21	Mapped by CNV
LZTR1	leucine-zipper-like transcription regulator 1	22q11.21	Mapped by CNV
CLDN5	claudin 5	22q11.21	Mapped by CNV
CLTCL1	clathrin, heavy chain-like 1	22q11.2	Mapped by CNV
MIR185	microRNA 185	22q11.21	Mapped by CNV
MIR1286	microRNA 1286	22	Mapped by CNV
MIR1306	microRNA 1306	22	Mapped by CNV
CDC45	cell division cycle 45 homolog (S. cerevisiae)	22q11.21	Mapped by CNV
ZDHHC8	zinc finger, DHHC-type containing 8	22q11.21	Mapped by CNV
MED15	mediator complex subunit 15	22q11.2	Mapped by CNV
BCRP5	breakpoint cluster region pseudogene 5	22q11.21	Mapped by CNV
BCRP2	breakpoint cluster region pseudogene 2	22q11	Mapped by CNV
SUSD2P2	sushi domain containing 2 pseudogene 2	22q11.21	Mapped by CNV
TBX1	T-box 1	22q11.21	Mapped by CNV
ZNF74	zinc finger protein 74	22q11.2	Mapped by CNV
KLHL22	kelch-like 22 (Drosophila)	22q11.21	Mapped by CNV
RIMBP3	RIMS binding protein 3	22q11.21	Mapped by CNV
KRT18P5	keratin 18 pseudogene 5	22q11.21	Mapped by CNV
TMEM191A	transmembrane protein 191A	22q11.21	Mapped by CNV
TXNRD2	thioredoxin reductase 2	22q11.21	Mapped by CNV; Mapped by LD-proxy; Mapped by literature SNP
TMEM191B	transmembrane protein 191B	22q11.21	Mapped by CNV
RANBP1	RAN binding protein 1	22q11.21	Mapped by CNV
THAP7	THAP domain containing 7	22q11.2	Mapped by CNV
CRKL	v-crk sarcoma virus CT10 oncogene homolog (avian)-like	22q11.21	Mapped by CNV
SLC9A3P2	solute carrier family 9 (sodium/hydrogen exchanger), member 3 pseudogene 2	22q11.21	Mapped by CNV
TRMT2A	TRM2 tRNA methyltransferase 2 homolog A (S. cerevisiae)	22q11.21	Mapped by CNV
SNAP29	synaptosomal-associated protein, 29kDa	22q11.21	Mapped by CNV
HIRA	HIR histone cell cycle regulation defective homolog A (S. cerevisiae)	22q11.2	Mapped by CNV
SMPD4P1	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) pseudogene 1	22q11.21	Mapped by CNV
DVL1L1	dishevelled, dsh homolog 1 (Drosophila)-like 1	22q11.21	Mapped by CNV
C22orf29	chromosome 22 open reading frame 29	22q11.21	Mapped by CNV
C22orf39	chromosome 22 open reading frame 39	22q11.21	Mapped by CNV
SLC7A4	solute carrier family 7 (cationic amino acid transporter, y+ system), member 4	22q11.21	Mapped by CNV
C22orf25	chromosome 22 open reading frame 25	22q11.21	Mapped by CNV
PI4KAP1	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1	22q11.21	Mapped by CNV
IGLL4P	immunoglobulin lambda-like polypeptide 4, pseudogene	22q11.21	Mapped by CNV
SERPIND1	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	22q11.21	Mapped by CNV
POM121L4P	POM121 membrane glycoprotein-like 4 pseudogene	22q11.2	Mapped by CNV
SEPT5	septin 5	22q11.2	Mapped by CNV
DGCR8	DiGeorge syndrome critical region gene 8	22q11.2	Mapped by CNV
DGCR6L	DiGeorge syndrome critical region gene 6-like	22q11	Mapped by CNV

View in gBrowse

Region: chr22:17616020..19792353 (NCBI36 / hg18) View in gBrowse
(The coordinate of the CNV has been transformed to NCBI Build 37 (hg19) in gBrowse)