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Table 5 The 18 candidate genes for VSD identified in this study

From: Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population

Gene

Gene Annotation

CNV type

Hits into gene set

Phenotype

(individual number)

CRKL

v-crk avian sarcoma virus CT10 oncogene homolog-like

loss

iVSD (2) cVSD(1)

LBX1

ladybird homeobox 1

gain

ο

iVSD

PAX3

paired box 3

gain

ο

iVSD

TBX1

T-box 1

loss

iVSD (2) cVSD(1)

PDLIM3

PDZ and LIM domain 3

loss

ASD

TXNRD2

thioredoxin reductase 2

loss

iVSD (2) cVSD(1)

GP1BB

glycoprotein Ib (platelet), beta polypeptide

loss

iVSD (2) cVSD(1)

CASP3

caspase 3, apoptosis-related cysteine peptidase

loss

ASD

MYH11

myosin, heavy chain 11, smooth muscle

gain

ο

iVSD

BMP5

bone morphogenetic protein 5

gain

ο

iVSD

EN1

engrailed homeobox 1

gain

ο

cVSD

PRKCB

protein kinase C, beta

gain

ο

cVSD

FGF12

fibroblast growth factor 12

gain

ο

ASD

HIRA

histone cell cycle regulator

loss

ο

iVSD (2) cVSD(1)

SOX2

SRY (sex determining region Y)-box 2

gain

ο

ASD

DGCR2

DiGeorge syndrome critical region gene 2

loss

ο

iVSD (2) cVSD(1)

PLK1

polo-like kinase 1

gain

ο

cVSD

EGFL6

EGF-like-domain, multiple 6

loss

de novo

cVSD

  1. Note: ▪ MGI database, Genes within Geneset reported in literature and CHD wiki
  2. Prioritized by Gene set from literature and CHD wiki
  3. Genes within GO and KEGG pathway
  4. Prioritized by Gene set from GO and KEGG pathway
  5. ο Genes significantly enriched by IPA
  6. iVSD: isolated VSD; cVSD: complex VSD