GENERATION OF A SNV DATABASE FOR NKX2.5, A GENE ASSOCIATED WITH CONGENITAL HEART DISEASE

SIMONETTI, LEANDRO; ESPECHE LD; NADRA A; KOLOMENSKI, JORGE E.; FERNANADEZ CECILIA; DAIN L; BRUQUE, CARLOS D.; BUZALINO N

Buenos Aires

Congreso; Reunion conjunta de las sociedades de biociencias; 2017

Linking the effects of Single Nucleotide Variants (SNVs) to their functional outcomes is a major issue in the field of human genetics, especially now that next-generation sequencing projects generate millions of previously unknown single nucleotide variants. Congenital Heart Diseases (CHD) are structural problems originated during prenatal heart development and stand out as a cause of prenatal, neonatal and infant mortality and morbidity. In 5-10% of the patients, CHD is caused by a single gene variation. Several genes with observed associations to CHD have been described, one of the most frequently involved is NKX2.5. The aim of the present work was to compile sequence information regarding the SNVs of NKX2.5 into a single database.The information of the SNVs was obtained and curated from different databases (DBs), among them Uniprot, dbSNV (NCBI), EVS (NHLBI-ESP), SwissVar (ExPASy), GWAS Central and ExAC, as well as our own data. To get uniform SNV names and assign unique IDs, we developed an algorithm in the Python 2.7 programming language to relativize the SNV?s positions to that of the GRCh38.p7 scaffold.A total of ~1260 SNVs were compiled: ~1257 from the different DBs. From these, ~397 affected coding regions and ~860, non-coding ones. We also retrieved 3 novel SNVs found in CHD patients from our cohort.The tools developed to acquire and clean-up the data for these genes could be used to build a DB which, in conjunction with state of the art prediction tools, could offer health professionals useful information regarding genetic disorders.