### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TBPL2) # 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}}" "TBPL2" "TATA box binding protein like 2" "14" "q22.2" "unknown" "NC_000014.8" "UD_132319788321" "" "https://www.LOVD.nl/TBPL2" "" "1" "19841" "387332" "608964" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-11-20 10:53:48" "00006" "2024-11-20 11:06:57" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00020848" "TBPL2" "TATA box binding protein like 2" "001" "NM_199047.2" "" "NP_950248.1" "" "" "" "1" "1297" "1128" "55907263" "55880928" "" "0000-00-00 00:00:00" "" "" "00025955" "TBPL2" "mRNA (expired, new version available)" "001" "NM_199047.3" "" "NP_950248.2" "" "" "MANE select" "1" "1297" "1128" "55907263" "55880928" "00006" "2024-11-20 11:06:57" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05370" "INFF" "infertility, female (INFF)" "" "" "" "" "" "00006" "2017-12-29 16:08:25" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TBPL2" "05370" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00408885" "" "" "" "1" "" "00000" "{PMID:Wyatt-2008:18781617}" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "1" "00418513" "" "" "" "1" "" "00006" "{PMID:He 2022:35121647}" "" "" "" "China" "" "0" "" "" "" "Fam10" "00438577" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0025" "00457829" "" "" "" "1" "" "00006" "{DOI:Ruotsalainen 2024:10.1016/j.ajhg.2024.10.018}" "genome-wide association study 22,849 women with infertility" "F" "" "" "" "0" "" "" "" "cases" "00457830" "" "" "" "1" "" "00006" "{DOI:Ruotsalainen 2024:10.1016/j.ajhg.2024.10.018}" "analysis 4 affected females" "F" "" "Finland" "" "0" "" "" "" "cases" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00408885" "04214" "00418513" "00198" "00438577" "06906" "00457829" "05370" "00457830" "05370" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04214, 05370, 06906 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000301003" "04214" "00408885" "00000" "Unknown" "1y7m" "Extreme Microphthalmia" "" "" "" "" "" "" "" "" "" "Congenital anophthalmia and microphthalmia (AM)" "" "0000328480" "06906" "00438577" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000346278" "05370" "00457830" "00006" "Familial, autosomal recessive" "" "only 4 homozygous women had children, all received infertility treatment" "" "" "" "" "" "" "" "" "" "female infertility" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000410150" "00408885" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "MLPA;FISH;arrayCGH" "DNA" "" "" "0000419808" "00418513" "1" "00006" "00006" "2022-09-29 15:33:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000440059" "00438577" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000459449" "00457829" "1" "00006" "00006" "2024-11-20 10:57:16" "" "" "arraySNP" "DNA" "" "GWAS" "0000459450" "00457830" "1" "00006" "00006" "2024-11-20 11:04:17" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000410150" "OTX2" "0000459450" "TBPL2" ## 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}}" "0000847412" "0" "70" "14" "53758044" "56834649" "del" "0" "00000" "ATG14_000012" "g.53758044_56834649del" "" "" "" "Whole gene deletion" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000879975" "0" "70" "14" "55900345" "55900345" "subst" "0" "00006" "TBPL2_000001" "g.55900345T>C" "" "{PMID:He 2022:35121647}" "" "" "ACMG PM2, PS3; effect on splicing predicted from mini-gene splicing assay" "Germline/De novo (untested)" "" "" "0" "" "" "g.55433627T>C" "" "likely pathogenic" "ACMG" "0000936377" "0" "50" "14" "55903628" "55903628" "subst" "4.06095E-6" "00006" "TBPL2_000002" "g.55903628C>T" "" "{PMID:Hamdan 2017:29100083}" "" "NM_199047:c.G259A (V87I)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0001017475" "0" "70" "14" "55890937" "55890937" "subst" "0.00131722" "00006" "TBPL2_000003" "g.55890937T>A" "" "{DOI:Ruotsalainen 2024:10.1016/j.ajhg.2024.10.018}" "" "" "odds ratio 650.1 (P=4.11x10−25)" "Germline" "" "rs144313315" "0" "" "" "g.55424219T>A" "" "association" "" "0001017476" "3" "90" "14" "55890937" "55890937" "subst" "0.00131722" "00006" "TBPL2_000003" "g.55890937T>A" "" "{DOI:Ruotsalainen 2024:10.1016/j.ajhg.2024.10.018}" "" "NM_199047.3:c.895A>T" "" "Germline" "" "rs144313315" "0" "" "" "g.55424219T>A" "" "pathogenic (recessive)" "" ## 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 TBPL2 ## 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}}" "0000847412" "00020848" "70" "1" "-927386" "1297" "2122884" "c.-927386_*2123053del" "r.0?" "p.0?" "" "0000879975" "00020848" "70" "788" "3" "788" "3" "c.788+3A>G" "r.(697_788del)" "p.(Arg233Ter)" "" "0000936377" "00020848" "50" "259" "0" "259" "0" "c.259G>A" "r.(?)" "p.(Val87Ile)" "" "0001017475" "00020848" "70" "991" "0" "991" "0" "c.991A>T" "r.(?)" "p.(Arg331*)" "" "0001017476" "00020848" "90" "991" "0" "991" "0" "c.991A>T" "r.(?)" "p.(Arg331*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000410150" "0000847412" "0000419808" "0000879975" "0000440059" "0000936377" "0000459449" "0001017475" "0000459450" "0001017476"