### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = C14orf39) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "C14orf39" "chromosome 14 open reading frame 39" "14" "q23.1" "unknown" "NC_000014.8" "UD_132319793112" "" "https://www.LOVD.nl/C14orf39" "" "1" "19849" "317761" "617307" "1" "1" "1" "1" "Alias SIX6OS1.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/C14orf39_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-02-16 19:59:05" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00004021" "C14orf39" "chromosome 14 open reading frame 39" "001" "NM_174978.2" "" "NP_777638.2" "" "" "" "-110" "2653" "1764" "60952764" "60902674" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "04187" "POF" "ovarian failure, premature (POF)" "" "" "" "" "" "00006" "2015-02-14 15:50:12" "00006" "2015-12-08 23:53:05" "05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" "" "05895" "INF" "infertility" "" "" "" "" "" "00006" "2021-02-04 08:41:37" "" "" "06897" "SPGF52" "spermatogenic failure, type 52" "AR" "619202" "" "" "" "00006" "2022-02-16 19:55:44" "" "" "06898" "POF18" "ovarian failure, premature, type 18" "AR" "619203" "" "" "" "00006" "2022-02-16 19:57:14" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "C14orf39" "04187" "C14orf39" "05562" "C14orf39" "05895" "C14orf39" "06897" "C14orf39" "06898" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00329111" "" "" "" "1" "" "00006" "{PMID:Fan 2021:33508233}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "China" "" "0" "" "" "" "P3907" "00329112" "" "" "" "1" "" "00006" "{PMID:Fan 2021:33508233}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "China" "" "0" "" "" "" "P6032" "00329113" "" "" "" "3" "" "00006" "5-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "" "F;M" "yes" "Pakistan" "" "0" "" "" "" "PK-INF-543" "00403086" "" "" "" "1" "" "00006" "{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}" "analysis 96 unrelated men" "M" "" "Algeria" "" "0" "" "" "" "P0142" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00329111" "05895" "00329112" "05895" "00329113" "05895" "00403086" "00201" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00201, 04187, 05562, 05895, 06897, 06898 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000247310" "05895" "00329111" "00006" "Familial, autosomal recessive" "" "see paper; ..., meiotic arrest" "" "" "" "" "" "" "" "" "infertility" "0000247311" "05895" "00329112" "00006" "Familial, autosomal recessive" "" "see paper; ..., meiotic arrest" "" "" "" "" "" "" "" "" "infertility" "0000247312" "05895" "00329113" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "infertility" "0000295833" "00201" "00403086" "00006" "Familial, autosomal recessive" "" "left/right testis volume 10-15/10-15 mL; testis meiotic spermatogenic arrest; sperm retrieval negative; no anosmia, no disorder of sex development, no abnormal secondary sex characteristics" "" "" "" "" "" "" "" "" "non-obstructive azoospermia" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000330331" "00329111" "1" "00006" "00006" "2021-02-04 08:38:18" "00006" "2021-02-04 08:40:49" "SEQ;SEQ-NG" "DNA" "" "WES" "0000330332" "00329112" "1" "00006" "00006" "2021-02-04 08:44:49" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000330333" "00329113" "1" "00006" "00006" "2021-02-04 08:53:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404327" "00403086" "1" "00006" "00006" "2022-02-16 19:52:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000330331" "C14orf39" "0000330332" "C14orf39" "0000330333" "C14orf39" "0000404327" "C14orf39" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 5 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000714904" "3" "90" "14" "60932711" "60932711" "subst" "0" "00006" "C14orf39_000001" "g.60932711C>A" "" "{PMID:Fan 2021:33508233}" "" "" "" "Germline" "" "" "0" "" "" "g.60465993C>A" "" "pathogenic (recessive)" "" "0000714905" "3" "90" "14" "60923816" "60923816" "subst" "0" "00006" "C14orf39_000002" "g.60923816G>C" "" "{PMID:Fan 2021:33508233}" "" "" "" "Germline" "" "" "0" "" "" "g.60457098G>C" "" "pathogenic (recessive)" "" "0000714907" "3" "90" "14" "60950438" "60950439" "del" "0" "00006" "C14orf39_000003" "g.60950438_60950439del" "" "{PMID:Fan 2021:33508233}" "" "" "" "Germline" "yes" "" "0" "" "" "g.60483720_60483721del" "" "pathogenic (recessive)" "" "0000839997" "3" "90" "14" "60950438" "60950439" "del" "0" "00006" "C14orf39_000003" "g.60950438_60950439del" "" "{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}" "" "NM_174978.3:c.204_205del" "" "Germline" "" "" "0" "" "" "g.60483720_60483721del" "" "pathogenic (recessive)" "" "0000967505" "0" "30" "14" "60923714" "60923714" "subst" "0.00229654" "02325" "C14orf39_000004" "g.60923714A>G" "" "" "" "C14orf39(NM_174978.3):c.1279T>C (p.F427L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes C14orf39 ## Count = 5 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000714904" "00004021" "90" "958" "0" "958" "0" "c.958G>T" "r.(?)" "p.(Glu320*)" "" "0000714905" "00004021" "90" "1180" "-3" "1180" "-3" "c.1180-3C>G" "r.spl" "p.?" "" "0000714907" "00004021" "90" "204" "0" "205" "0" "c.204_205del" "r.(?)" "p.(His68Glnfs*2)" "" "0000839997" "00004021" "90" "203" "0" "204" "0" "c.203_204del" "r.(?)" "p.(His68Glnfs*2)" "" "0000967505" "00004021" "30" "1279" "0" "1279" "0" "c.1279T>C" "r.(?)" "p.(Phe427Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000330331" "0000714904" "0000330332" "0000714905" "0000330333" "0000714907" "0000404327" "0000839997"