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dbnsfp_parser.py
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dbnsfp_parser.py
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import csv
import glob
from biothings.utils.dataload import list_split, dict_sweep, unlist, value_convert_to_number
VALID_COLUMN_NO = 194
'''this parser is for dbNSFP v3.3a beta2 downloaded from
https://sites.google.com/site/jpopgen/dbNSFP'''
# convert one snp to json
def _map_line_to_json(df, version, index=0):
# specific variable treatment
chrom = df["#chr"]
if chrom == 'M':
chrom = 'MT'
# fields[7] in version 2, represent hg18_pos
hg18_end = df["hg18_pos(1-based)"]
if hg18_end == ".":
hg18_end = "."
else:
hg18_end = int(hg18_end)
# in case of no hg19 position provided, remove the item
if df["hg19_pos(1-based)"] == '.':
return None
else:
chromStart = int(df["hg19_pos(1-based)"])
chromEnd = chromStart
chromStart_38 = int(df["pos(1-based)"])
ref = df["ref"].upper()
alt = df["alt"].upper()
HGVS_19 = "chr%s:g.%d%s>%s" % (chrom, chromStart, ref, alt)
HGVS_38 = "chr%s:g.%d%s>%s" % (chrom, chromStart_38, ref, alt)
if version == 'hg19':
HGVS = HGVS_19
elif version == 'hg38':
HGVS = HGVS_38
siphy_29way_pi = df["SiPhy_29way_pi"]
if siphy_29way_pi == ".":
siphy = "."
else:
freq = siphy_29way_pi.split(":")
siphy = {'a': freq[0], 'c': freq[1], 'g': freq[2], 't': freq[3]}
gtex_gene = df["GTEx_V6_gene"].split('|')
gtex_tissue = df["GTEx_V6_tissue "].split('|')
gtex = map(dict, map(lambda t: zip(('gene', 'tissue'), t), zip(gtex_gene, gtex_tissue)))
acc = df["Uniprot_acc_Polyphen2"].rstrip().rstrip(';').split(";")
pos = df["Uniprot_aapos_Polyphen2"].rstrip().rstrip(';').split(";")
uniprot = map(dict, map(lambda t: zip(('acc', 'pos'), t), zip(acc, pos)))
provean_score = df["PROVEAN_score"].split(';')
sift_score = df["SIFT_score"].split(';')
hdiv_score = df["Polyphen2_HDIV_score"].split(';')
hvar_score = df["Polyphen2_HVAR_score"].split(';')
lrt_score = df["LRT_score"].split(';')
m_cap_score = df["M-CAP_score"].split(';')
mutationtaster_score = df["MutationTaster_score"].split(';')
mutationassessor_score = df["MutationAssessor_score"].split(';')
vest3_score = df["VEST3_score"].split(';')
metasvm_score = df["MetaSVM_score"].split(';')
fathmm_score = df["FATHMM_score"].split(';')
metalr_score = df["MetaLR_score"].split(';')
revel_score = df["REVEL_score"].split(';')
'''
parse mutpred top 5 features
'''
def modify_pvalue(pvalue):
return float(pvalue.strip('P = '))
mutpred_mechanisms = df["MutPred_Top5features"]
if mutpred_mechanisms not in ['.', ',', '-']:
mutpred_mechanisms = mutpred_mechanisms.split(" (") and mutpred_mechanisms.split(";")
mutpred_mechanisms = [m.rstrip(")") for m in mutpred_mechanisms]
mutpred_mechanisms = [i.split(" (") for i in mutpred_mechanisms]
mutpred_mechanisms = sum(mutpred_mechanisms, [])
mechanisms = [
{"mechanism": mutpred_mechanisms[0],
"p_val": modify_pvalue(mutpred_mechanisms[1])},
{"mechanism": mutpred_mechanisms[2],
"p_val": modify_pvalue(mutpred_mechanisms[3])},
{"mechanism": mutpred_mechanisms[4],
"p_val": modify_pvalue(mutpred_mechanisms[5])},
{"mechanism": mutpred_mechanisms[6],
"p_val": modify_pvalue(mutpred_mechanisms[7])},
{"mechanism": mutpred_mechanisms[8],
"p_val": modify_pvalue(mutpred_mechanisms[9])}
]
else:
mechanisms = '.'
# normalize scores
def norm(arr):
return [None if item == '.' else item for item in arr]
provean_score = norm(provean_score)
sift_score = norm(sift_score)
hdiv_score = norm(hdiv_score)
hvar_score = norm(hvar_score)
lrt_score = norm(lrt_score)
m_cap_score = norm(m_cap_score)
mutationtaster_score = norm(mutationtaster_score)
mutationassessor_score = norm(mutationassessor_score)
vest3_score = norm(vest3_score)
metasvm_score = norm(metasvm_score)
fathmm_score = norm(fathmm_score)
metalr_score = norm(metalr_score)
revel_score = norm(revel_score)
# load as json data
one_snp_json = {
"_id": HGVS,
"dbnsfp": {
"rsid": df["rs_dbSNP147"],
#"rsid_dbSNP144": fields[6],
"chrom": chrom,
"hg19": {
"start": chromStart,
"end": chromEnd
},
"hg18": {
"start": df["hg18_pos(1-based)"],
"end": hg18_end
},
"hg38": {
"start": df["pos(1-based)"],
"end": df["pos(1-based)"]
},
"ref": ref,
"alt": alt,
"aa": {
"ref": df["aaref"],
"alt": df["aaalt"],
"pos": df["aapos"],
"refcodon": df["refcodon"],
"codonpos": df["codonpos"],
"codon_degeneracy": df["codon_degeneracy"],
},
"genename": df["genename"],
"uniprot": list(uniprot),
"interpro_domain": df["Interpro_domain"],
"cds_strand": df["cds_strand"],
"ancestral_allele": df["Ancestral_allele"],
#"altaineandertal": fields[17],
#"denisova": fields[18]
"ensembl": {
"geneid": df["Ensembl_geneid"],
"transcriptid": df["Ensembl_transcriptid"],
"proteinid": df["Ensembl_proteinid"]
},
"sift": {
"score": sift_score,
"converted_rankscore": df["SIFT_converted_rankscore"],
"pred": df["SIFT_pred"]
},
"polyphen2": {
"hdiv": {
"score": hdiv_score,
"rankscore": df["Polyphen2_HDIV_rankscore"],
"pred": df["Polyphen2_HDIV_pred"]
},
"hvar": {
"score": hvar_score,
"rankscore": df["Polyphen2_HVAR_rankscore"],
"pred": df["Polyphen2_HVAR_pred"]
}
},
"lrt": {
"score": lrt_score,
"converted_rankscore": df["LRT_converted_rankscore"],
"pred": df["LRT_pred"],
"omega": df["LRT_Omega"]
},
"mutationtaster": {
"score": mutationtaster_score,
"converted_rankscore": df["MutationTaster_converted_rankscore"],
"pred": df["MutationTaster_pred"],
"model": df["MutationTaster_model"],
"AAE": df["MutationTaster_AAE"]
},
"mutationassessor": {
"score": mutationassessor_score,
"rankscore": df["MutationAssessor_score_rankscore"],
"pred": df["MutationAssessor_pred"]
},
"fathmm": {
"score": fathmm_score,
"rankscore": df["FATHMM_converted_rankscore"],
"pred": df["FATHMM_pred"]
},
"provean": {
"score": provean_score,
"rankscore": df["PROVEAN_converted_rankscore"],
"pred": df["PROVEAN_pred"]
},
"vest3": {
"score": vest3_score,
"rankscore": df["VEST3_rankscore"],
"transcriptid": df["Transcript_id_VEST3"],
"transcriptvar": df["Transcript_var_VEST3"]
},
"fathmm-mkl": {
"coding_score": df["fathmm-MKL_coding_score"],
"coding_rankscore": df["fathmm-MKL_coding_rankscore"],
"coding_pred": df["fathmm-MKL_coding_pred"],
"coding_group": df["fathmm-MKL_coding_group"]
},
"eigen": {
"coding_or_noncoding": df["Eigen_coding_or_noncoding"],
"raw": df["Eigen-raw"],
"phred": df["Eigen-phred"]
},
"eigen-pc": {
"raw": df["Eigen-PC-raw"],
"phred": df["Eigen-PC-phred"],
"raw_rankscore": df["Eigen-PC-raw_rankscore"]
},
"genocanyon": {
"score": df["GenoCanyon_score"],
"rankscore": df["GenoCanyon_score_rankscore"]
},
"metasvm": {
"score": metasvm_score,
"rankscore": df["MetaSVM_rankscore"],
"pred": df["MetaSVM_pred"]
},
"metalr": {
"score": metalr_score,
"rankscore": df["MetaLR_rankscore"],
"pred": df["MetaLR_pred"]
},
"reliability_index": df["Reliability_index"],
"m_cap_score": {
"score": m_cap_score,
"rankscore": df["M-CAP_rankscore"],
"pred": df["M-CAP_pred"]
},
"revel": {
"score": revel_score,
"rankscore": df["REVEL_rankscore"]
},
"mutpred": {
"score": df["MutPred_score"],
"rankscore": df["MutPred_rankscore"],
"accession": df["MutPred_protID"],
"aa_change": df["MutPred_AAchange"],
"pred": mechanisms
},
"dann": {
"score": df["DANN_score"],
"rankscore": df["DANN_rankscore"]
},
"gerp++": {
"nr": df["GERP++_NR"],
"rs": df["GERP++_RS"],
"rs_rankscore": df["GERP++_RS_rankscore"]
},
"integrated": {
"fitcons_score": df["integrated_fitCons_score"],
"fitcons_rankscore": df["integrated_fitCons_score_rankscore"],
"confidence_value": df["integrated_confidence_value"]
},
"gm12878": {
"fitcons_score": df["GM12878_fitCons_score"],
"fitcons_rankscore": df["GM12878_fitCons_score_rankscore"],
"confidence_value": df["GM12878_confidence_value"]
},
"h1-hesc": {
"fitcons_score": df["H1-hESC_fitCons_score"],
"fitcons_rankscore": df["H1-hESC_fitCons_score_rankscore"],
"confidence_value": df["H1-hESC_confidence_value"]
},
"huvec": {
"fitcons_score": df["HUVEC_fitCons_score"],
"fitcons_rankscore": df["HUVEC_fitCons_score_rankscore"],
"confidence_value": df["HUVEC_confidence_value"]
},
"phylo": {
"p100way": {
"vertebrate": df["phyloP100way_vertebrate"],
"vertebrate_rankscore": df["phyloP100way_vertebrate_rankscore"]
},
"p20way": {
"mammalian": df["phyloP20way_mammalian"],
"mammalian_rankscore": df["phyloP20way_mammalian_rankscore"]
}
},
"phastcons": {
"100way": {
"vertebrate": df["phastCons100way_vertebrate"],
"vertebrate_rankscore": df["phastCons100way_vertebrate_rankscore"]
},
"20way": {
"mammalian": df["phastCons20way_mammalian"],
"mammalian_rankscore": df["phastCons20way_mammalian_rankscore"]
}
},
"siphy_29way": {
"pi": siphy,
"logodds": df["SiPhy_29way_logOdds"],
"logodds_rankscore": df["SiPhy_29way_logOdds_rankscore"]
},
"1000gp3": {
"ac": df["1000Gp3_AC"],
"af": df["1000Gp3_AF"],
"afr_ac": df["1000Gp3_AFR_AC"],
"afr_af": df["1000Gp3_AFR_AF"],
"eur_ac": df["1000Gp3_EUR_AC"],
"eur_af": df["1000Gp3_EUR_AF"],
"amr_ac": df["1000Gp3_AMR_AC"],
"amr_af": df["1000Gp3_AMR_AF"],
"eas_ac": df["1000Gp3_EAS_AC"],
"eas_af": df["1000Gp3_EAS_AF"],
"sas_ac": df["1000Gp3_SAS_AC"],
"sas_af": df["1000Gp3_SAS_AF"]
},
"twinsuk": {
"ac": df["TWINSUK_AC"],
"af": df["TWINSUK_AF"]
},
"alspac": {
"ac": df["ALSPAC_AC"],
"af": df["ALSPAC_AF"]
},
"esp6500": {
"aa_ac": df["ESP6500_AA_AC"],
"aa_af": df["ESP6500_AA_AF"],
"ea_ac": df["ESP6500_EA_AC"],
"ea_af": df["ESP6500_EA_AF"]
},
"exac": {
"ac": df["ExAC_AC"],
"af": df["ExAC_AF"],
"adj_ac": df["ExAC_Adj_AC"],
"adj_af": df["ExAC_Adj_AF"],
"afr_ac": df["ExAC_AFR_AC"],
"afr_af": df["ExAC_AFR_AF"],
"amr_ac": df["ExAC_AMR_AC"],
"amr_af": df["ExAC_AMR_AF"],
"eas_ac": df["ExAC_EAS_AC"],
"eas_af": df["ExAC_EAS_AF"],
"fin_ac": df["ExAC_FIN_AC"],
"fin_af": df["ExAC_FIN_AF"],
"nfe_ac": df["ExAC_NFE_AC"],
"nfe_af": df["ExAC_NFE_AF"],
"sas_ac": df["ExAC_SAS_AC"],
"sas_af": df["ExAC_SAS_AF"]
},
"exac_nontcga": {
"ac": df["ExAC_nonTCGA_AC"],
"af": df["ExAC_nonTCGA_AF"],
"adj_ac": df["ExAC_nonTCGA_Adj_AC"],
"adj_af": df["ExAC_nonTCGA_Adj_AF"],
"afr_ac": df["ExAC_nonTCGA_AFR_AC"],
"afr_af": df["ExAC_nonTCGA_AFR_AF"],
"amr_ac": df["ExAC_nonTCGA_AMR_AC"],
"amr_af": df["ExAC_nonTCGA_AMR_AF"],
"eas_ac": df["ExAC_nonTCGA_EAS_AC"],
"eas_af": df["ExAC_nonTCGA_EAS_AF"],
"fin_ac": df["ExAC_nonTCGA_FIN_AC"],
"fin_af": df["ExAC_nonTCGA_FIN_AF"],
"nfe_ac": df["ExAC_nonTCGA_NFE_AC"],
"nfe_af": df["ExAC_nonTCGA_NFE_AF"],
"sas_ac": df["ExAC_nonTCGA_SAS_AC"],
"sas_af": df["ExAC_nonTCGA_SAS_AF"]
},
"exac_nonpsych": {
"ac": df["ExAC_nonpsych_AC"],
"af": df["ExAC_nonpsych_AF"],
"adj_ac": df["ExAC_nonpsych_Adj_AC"],
"adj_af": df["ExAC_nonpsych_Adj_AF"],
"afr_ac": df["ExAC_nonpsych_AFR_AC"],
"afr_af": df["ExAC_nonpsych_AFR_AF"],
"amr_ac": df["ExAC_nonpsych_AMR_AC"],
"amr_af": df["ExAC_nonpsych_AMR_AF"],
"eas_ac": df["ExAC_nonpsych_EAS_AC"],
"eas_af": df["ExAC_nonpsych_EAS_AF"],
"fin_ac": df["ExAC_nonpsych_FIN_AC"],
"fin_af": df["ExAC_nonpsych_FIN_AF"],
"nfe_ac": df["ExAC_nonpsych_NFE_AC"],
"nfe_af": df["ExAC_nonpsych_NFE_AF"],
"sas_ac": df["ExAC_nonpsych_SAS_AC"],
"sas_af": df["ExAC_nonpsych_SAS_AF"]
},
"clinvar": {
"rs": df["clinvar_rs"],
"clinsig": list(map(int,[i for i in df["clinvar_clnsig"].split("|") if i != "."])),
"trait": [i for i in df["clinvar_trait"].split("|") if i != "."],
"golden_stars": list(map(int,[i for i in df["clinvar_golden_stars"].split("|") if i != "."]))
},
"gtex": list(gtex)
}
}
one_snp_json = list_split(dict_sweep(unlist(value_convert_to_number(one_snp_json)), vals=[".", '-', None]), ";")
one_snp_json["dbnsfp"]["chrom"] = str(one_snp_json["dbnsfp"]["chrom"])
return one_snp_json
# open file, parse, pass to json mapper
def data_generator(input_file, version):
open_file = open(input_file)
db_nsfp = csv.reader(open_file, delimiter="\t")
index = next(db_nsfp)
assert len(index) == VALID_COLUMN_NO, "Expecting %s columns, but got %s" % (VALID_COLUMN_NO, len(index))
previous_row = None
for row in db_nsfp:
df = dict(zip(index, row))
# use transpose matrix to have 1 row with N 187 columns
current_row = _map_line_to_json(df, version=version)
if previous_row and current_row:
if current_row["_id"] == previous_row["_id"]:
aa = previous_row["dbnsfp"]["aa"]
if not isinstance(aa, list):
aa = [aa]
aa.append(current_row["dbnsfp"]["aa"])
previous_row["dbnsfp"]["aa"] = aa
if len(previous_row["dbnsfp"]["aa"]) > 1:
continue
else:
yield previous_row
previous_row = current_row
if previous_row:
yield previous_row
def load_data_file(input_file, version):
data = data_generator(input_file, version=version)
for one_snp_json in data:
yield one_snp_json
# load path and find files, pass to data_generator
def load_data(path_glob, version='hg19'):
for input_file in sorted(glob.glob(path_glob)):
for d in load_data_file(input_file, version):
yield d