HUMAN  VARIOME  PROJECT  IN  CHINA

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  The current focus of HVP is to establish the systematic Locus Specific Databases (LSDBs) and National and Ethnic Mutation Databases (NEMDBs). These databases are expected to be managed in the way of "federation" ¨C both respecting the intellectual properties and sharing the resources in order to serve the whole mankind.

     Zhejiang University Center for Genetic and Genomic Medicine will lead and coordinate the contributions of Chinese researchers to these international projects, using its unique clinical patient resources, state-of-the-art genome technology platform, extensive experience in the field, broad international connections, and a huge body of excellent student volunteers (majors in medicine, bioinformatics, and computer sciences).

All the genes were listed in our LOVD database
Gene symbol
Gene Name
Refseq
Links
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 NM_020297.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
ACTC1
 actin, alpha, cardiac muscle 1 NM_005159.4 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
ACTN2
 actinin, alpha 2 NM_001103.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
AKAP9 A kinase (PRKA) anchor protein (yotiao) 9 NM_005751.4 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
ANK2 ankyrin 2, neuronal NM_001127493.1 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
APC adenomatous polyposis coli NM_000038.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
AXIN2 axin 2 NM_004655.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
BARD1 BRCA1 associated RING domain 1 NM_000465.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
BRCA1 Breast cancer 1, early onset NM_007294.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
BRCA2 Breast cancer 2, early onset NM_000059.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
BRIP1 BRCA1 interacting protein C-terminal helicase 1 NM_032043.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit NM_001129840.1 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
CAV3 Caveolin 3 NM_033337.1 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
CDC73 cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) NM_024529.4 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
CDH1 cadherin 1, type 1, E-cadherin (epithelial) NM_004360.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
CHEK2 CHK2 checkpoint homolog (S. pombe) NM_007194.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein) NM_003476.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
CTF1 cardiotrophin 1 NM_001330.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
DES desmin NM_001927.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
DSC2 desmocollin 2 NM_024422.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
DSG2 desmoglein 2 NM_001943.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
DSP desmoplakin NM_004415.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
ELAC2 elaC homolog 2 (E. coli) NM_018127.6 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
EMD emerin NM_000117.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
EPCAM epithelial cell adhesion molecule NM_002354.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
FH fumarate hydratase NM_000143.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
GLA galactosidase, alpha NM_000169.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3 NM_000197.1 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 NM_001166120.1 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
JAG1 jagged 1 (Alagille syndrome) NM_000214.1 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
KCNE1 potassium voltage-gated channel, Isk-related family, member 1 NM_000219.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
KCNE2 potassium voltage-gated channel, Isk-related family, member 2 NM_172201.1 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
KCNH2 potassium voltage-gated channel, subfamily H (eag-related), member 2 NM_000238.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
KCNJ2 potassium inwardly-rectifying channel, subfamily J, member 2 NM_000891.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
KCNQ1 potassium voltage-gated channel, KQT-like subfamily, member 1 NM_000218.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog NM_000222.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
LAMP2 lysosomal-associated membrane protein 2 NM_002294.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
LDB3 LIM domain binding 3 NM_007078.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
LMBRD1 LMBR1 domain containing 1 NM_018368.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
LMNA lamin A/C NM_170707.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
MCEE methylmalonyl CoA epimerase NM_032601.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
MET met proto-oncogene (hepatocyte growth factor receptor) NM_001127500.1 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
MLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) NM_000249.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
MLH3 mutL homolog 3 (E. coli) NM_001040108.1 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
MMAA Methylmalonic Aciduria (cobalamin deficiency) cblA type NM_172250.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type NM_052845.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuri NM_015506.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuri NM_015702.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae) NM_005591.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
MSH2 mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) NM_000251.1 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
MSH6 mutS homolog 6 (E. coli) NM_000179.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase NM_000254.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase NM_002454.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
MUT methylmalonyl Coenzyme A mutase NM_000255.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
MYBPC3 myosin binding protein C, cardiac NM_000256.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
MYH7 myosin, heavy chain 7, cardiac muscle, beta NM_000257.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
MYL2 myosin, light chain 2, regulatory, cardiac, slow NM_000432.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow NM_000258.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
NBN nibrin NM_002485.4 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
NOTCH2 notch 2 NM_024408.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
NTRK1 neurotrophic tyrosine kinase, receptor, type 1 NM_001012331.1 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
PALB2 partner and localizer of BRCA2 NM_024675.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
PDGFRA platelet-derived growth factor receptor, alpha polypeptide NM_006206.4 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
PKP2 plakophilin 2 NM_004572.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
PLN phospholamban NM_002667.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
PMS1 postmeiotic segregation increased 1 (S. cerevisiae) NM_000534.4 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
PMS2 postmeiotic segregation increased 2 (S. cerevisiae) NM_000535.5 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit NM_016203.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
PTCH1 patched 1 NM_000264.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
PTEN phosphatase and tensin homolog NM_000314.4 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
RAD50 RAD50 homolog (S. cerevisiae) NM_005732.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
RAD51C RAD51 homolog C (S. cerevisiae) NM_058216.1 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
RET ret proto-oncogene NM_020975.4 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
RNASEL ribonuclease L (2\',5\'-oligoisoadenylate synthetase-dependent) NM_021133.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
SCN4B sodium channel, voltage-gated, type IV, beta NM_174934.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
SCN5A sodium channel, voltage-gated, type V, alpha subunit NM_198056.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) NM_000337.5 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
SNTA1 syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic compon NM_003098.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) NM_000348.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
STK11 serine/threonine kinase 11 NM_000455.4 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
TAZ tafazzin NM_000116.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
TCAP titin-cap (telethonin) NM_003673.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
TMEM43 transmembrane protein 43 NM_024334.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
TNNI3 troponin I type 3 (cardiac) NM_000363.4 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
TNNT2 troponin T type 2 (cardiac) NM_001001430.1 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
TPM1 tropomyosin 1 (alpha) NM_001018005.1 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
VCL vinculin NM_014000.2 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB
VHL von Hippel-Lindau tumor suppressor NM_000551.3 Entrez Gene | HGNC | Ensembl | UCSC | UniProtKB

Please cite the following if you use the related data from the LOVD database.

T. Zhang, A. Moss, P. Cong, M. Pan, B. Chang, L. Zheng, Q. Fang, W. Zareba, J. Robinson, C. Lin, Z. Li, J. Wei, Q. Zeng, M. Qi, LQTS gene LOVD database, Hum Mutat, 31 (2010) E1801-1810.   £¨PMID | PDF )

M. Pan, P. Cong, Y. Wang, C. Lin, Y. Yuan, J. Dong, S. Banerjee, T. Zhang, Y. Chen, M. Chen, P. Hu, S. Zheng, J. Zhang, M. Qi, Novel LOVD databases for Hereditary Breast Cancer and Colorectal Cancer genes in the Chinese Population, Hum Mutat, 32 (2011) 1335-1340 (PMID | PDF)

 
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