### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C15orf55)
# 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}}"
"C15orf55" "chromosome 15 open reading frame 55" "15" "q14" "unknown" "NC_000015.9" "UD_132319890722" "" "https://www.LOVD.nl/NUTM1" "" "1" "29919" "256646" "608963" "1" "1" "1" "1" "NOTE: gene name changed from C15orf55 to NUTM1\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from C15orf55 to NUTM1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-10-21 19:40:42" "00000" "2026-01-20 18:57:21"
## 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}}"
"00004054" "C15orf55" "chromosome 15 open reading frame 55" "001" "NM_175741.1" "" "NP_786883.1" "" "" "" "-155" "3640" "3399" "34638066" "34649933" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00438718" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0785"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}" "{{diseaseid}}"
"00438718" "06906"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 06906
## Count = 1
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}"
"0000328621" "06906" "00438718" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy"
## Screenings ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000440200" "00438718" "1" "00006" "00006" "2023-10-21 19:20:17" "00006" "2023-10-21 22:17:41" "SEQ;SEQ-NG" "DNA" "" "WGS"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 0
## 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 = 11
"{{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}}"
"0000296517" "0" "10" "15" "34634324" "34634324" "subst" "0.358372" "02325" "NOP10_000004" "g.34634324C>G" "" "" "" "NOP10(NM_018648.4):c.55-15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34342123C>G" "" "benign" ""
"0000337825" "0" "10" "15" "34634324" "34634324" "subst" "0.358372" "02327" "NOP10_000004" "g.34634324C>G" "" "" "" "NOP10(NM_018648.4):c.55-15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34342123C>G" "" "benign" ""
"0000554035" "0" "10" "15" "34634020" "34634020" "subst" "0" "01943" "NOP10_000010" "g.34634020C>T" "" "" "" "NOP10(NM_018648.3):c.*149G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34341819C>T" "" "benign" ""
"0000554036" "0" "30" "15" "34649064" "34649064" "subst" "0.00809472" "01804" "C15orf55_000001" "g.34649064A>G" "" "" "" "NUTM1(NM_175741.2):c.2771A>G (p.(Asn924Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34356863A>G" "" "likely benign" ""
"0000554037" "0" "30" "15" "34649336" "34649336" "subst" "0.00210895" "01804" "C15orf55_000002" "g.34649336G>A" "" "" "" "NUTM1(NM_175741.2):c.3043G>A (p.(Glu1015Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34357135G>A" "" "likely benign" ""
"0000615235" "0" "30" "15" "34635241" "34635241" "subst" "0.0100133" "01804" "NOP10_000002" "g.34635241C>G" "" "" "" "NOP10(NM_018648.3):c.34G>C (p.(Asp12His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34343040C>G" "" "likely benign" ""
"0000691778" "0" "30" "15" "34634318" "34634318" "subst" "0.000215225" "01943" "C15orf55_000003" "g.34634318G>A" "" "" "" "NOP10(NM_018648.3):c.55-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000853980" "0" "30" "15" "34634318" "34634318" "subst" "0.000215225" "02326" "C15orf55_000003" "g.34634318G>A" "" "" "" "NOP10(NM_018648.3):c.55-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000930371" "0" "30" "15" "34634319" "34634319" "subst" "0.000661924" "02326" "C15orf55_000004" "g.34634319G>T" "" "" "" "NOP10(NM_018648.3):c.55-10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000936358" "0" "50" "15" "34648443" "34648444" "del" "0" "00006" "C15orf55_000005" "g.34648443_34648444del" "" "{PMID:Hamdan 2017:29100083}" "" "NM_175741:c.2149_2150del (C717fs)" "" "De novo" "" "" "0" "" "" "g.34356242_34356243del" "" "VUS" ""
"0001066179" "0" "30" "15" "34635241" "34635241" "subst" "0.0100133" "02325" "NOP10_000002" "g.34635241C>G" "" "" "" "NOP10(NM_018648.3):c.34G>C (p.(Asp12His))" "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 C15orf55
## Count = 11
"{{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}}"
"0000296517" "00004054" "10" "-3897" "0" "-3897" "0" "c.-3897C>G" "r.(?)" "p.(=)" ""
"0000337825" "00004054" "10" "-3897" "0" "-3897" "0" "c.-3897C>G" "r.(?)" "p.(=)" ""
"0000554035" "00004054" "10" "-4201" "0" "-4201" "0" "c.-4201C>T" "r.(?)" "p.(=)" ""
"0000554036" "00004054" "30" "2771" "0" "2771" "0" "c.2771A>G" "r.(?)" "p.(Asn924Ser)" ""
"0000554037" "00004054" "30" "3043" "0" "3043" "0" "c.3043G>A" "r.(?)" "p.(Glu1015Lys)" ""
"0000615235" "00004054" "30" "-2980" "0" "-2980" "0" "c.-2980C>G" "r.(?)" "p.(=)" ""
"0000691778" "00004054" "30" "-3903" "0" "-3903" "0" "c.-3903G>A" "r.(?)" "p.(=)" ""
"0000853980" "00004054" "30" "-3903" "0" "-3903" "0" "c.-3903G>A" "r.(?)" "p.(=)" ""
"0000930371" "00004054" "30" "-3902" "0" "-3902" "0" "c.-3902G>T" "r.(?)" "p.(=)" ""
"0000936358" "00004054" "70" "2150" "0" "2151" "0" "c.2150_2151del" "r.(?)" "p.(Cys717SerfsTer10)" ""
"0001066179" "00004054" "30" "-2980" "0" "-2980" "0" "c.-2980C>G" "r.(?)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{variantid}}"
"0000440200" "0000936358"