A large-scale survey of genetic copy number variations among Han Chinese residing in Taiwan

Lin, Chien-Hsing; Li, Ling-Hui; Ho, Sheng-Feng; Chuang, Tzu-Po; Wu, Jer-Yuarn; Chen, Yuan-Tsong; Fann, Cathy SJ

doi:10.1186/1471-2156-9-92

BMC Genomic Data

Table 2 Genes in the copy number-variable regions (CNVRs) are associated with disease and disease susceptibility

From: A large-scale survey of genetic copy number variations among Han Chinese residing in Taiwan

CNVR ID	Chr	Position (bp)	Variant Type	# of observations^b	Gene symbol^c	Disease^d
1^a	1	17313441–19641958	Gain	4	ALDH4A1	Hyperprolinemia, type II
					MRT4	Mental retardation
					PAX7	Rhabdomyosarcoma, alveolar
13^a	1	229469402–229804452	Loss	11	EGLN1	Erythrocytosis, familial, 3
					GNPAT	Chondrodysplasia punctata, rhizomelic, type 2
31^a	3	15281603–15545420	Gain	8	COLQ	Endplate acetylcholinesterase deficiency
38	3	130171189–130741211	Loss	2	GP9	Bernard-Soulier syndrome, type C
					RHO	Retinitis pigmentosa 4
40^a	3	166493869–167384443	Loss	4	BCHE	Apnea, postanesthetic
80	5	147335938–147460716	Loss	2	SPINK5	Atopy
111	7	80115926–80209630	Loss	10	CD36	Platelet glycoprotein IV deficiency
120^a	7	142035481–142155613	Loss	2	PRSS1	Trypsinogen deficiency
121^a	7	154254541–155708987	Gain	6	SHH	Coloboma, ocular
124^a	8	13016678–13270959	Loss and Gain	4	DLC1	Colorectal cancer
147	9	103072622–103206674	Loss	3	BAAT	Hypercholanemia, familial
149^a	9	134892783–137859477	Gain	8	ADAMTS13	Thrombotic thrombocytopenic purpura, familial
					CEL	Maturity-onset diabetes of the young, type VIII
					COL5A1	Ehlers-Danlos syndrome, type I
					DBH	Dopamine beta-hydroxylase deficiency
					SURF1	Leigh syndrome, due to COX deficiency
152^a	10	49832039–50706976	Gain	5	CHAT	Myasthenic syndrome, congenital, associated with episodic apnea
					ERCC6	Cerebrooculofacioskeletal syndrome 1
156^a	10	125651321–126729328	Loss	2	OAT	Gyrate atrophy of choroid and retina with ornithinemia
163^a	12	2449181–3410784	Gain	6	CACNA1C	Timothy syndrome
164	12	4794562–5039110	Gain	3	KCNA1	Episodic ataxia/myokymia syndrome
167^a	12	21603812–21931308	Loss	8	ABCC9	Cardiomyopathy, dilated, 1O
					GYS2	Glycogen storage disease, type 0
					KCNJ8	Prinzmetal angina
					LDHB	Lactate dehydrogenase-B deficiency
176^a	13	22656237–23918863	Gain	2	SACS	Spastic ataxia, Charlevoix-Saguenay type
					SGCG	Muscular dystrophy, limb-girdle, type 2C
206	16	11215600–11869359	Loss	4	LITAF	Charcot-Marie-Tooth disease, type 1C
212^a	17	72497067–78181864	Gain	5	ACTG1	Deafness, autosomal dominant 20/26
					ASPSCR1	Alveolar soft-part sarcoma
					FSCN2	Retinitis pigmentosa-30
					GAA	Glycogen storage disease II
					SGSH	Sanfilippo syndrome, type A
					SOCS3	Dermatitis, atopic, 4
215^a	18	26241506–27419753	Loss	5	DSC2	Arrhythmogenic right ventricular dysplasia, familial, 11
					DSG1	Keratosis palmoplantaris striata I
					DSG2	Arrhythmogenic right ventricular dysplasia, familial, 10
					DSG4	Hypotrichosis, localized, autosomal recessive
217^a	18	51204895–51803567	Loss	4	TCF4	Pitt-Hopkins syndrome
230^a	22	47187524–49023156	Gain	4	ALG12	Congenital disorder of glycosylation, type Ig
					MLC1	Megalencephalic leukoencephalopathy with subcortical cysts

^aCNVRs reported in the database of genomic variants.
^bTotal number of gains and losses observed for a CNVR.
^cGene overlapping a CNVR based on ReqSeq of the UCSC March 2006 assembly.
^dDisease or disease susceptibility associated with the gene, according to the OMIM Morbid Map.

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