### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = FAM105B)
# 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}}"
"FAM105B" "family with sequence similarity 105, member B" "5" "p15.2" "unknown" "NC_000005.9" "UD_133033899612" "" "http://www.LOVD.nl/OTULIN" "" "1" "25118" "90268" "615712" "1" "1" "1" "1" "NOTE: gene name changed from FAM105B to OTULIN\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from FAM105B to OTULIN" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-12-13 14:34:11" "00000" "2025-02-07 18:57:27"
## 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}}"
"00007531" "FAM105B" "family with sequence similarity 105, member B" "001" "NM_138348.4" "" "NP_612357.4" "" "" "" "-152" "7744" "1059" "14664783" "14699842" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{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"
"06659" "AIPDS" "Autoinflammation, panniculitis, and dermatosis syndrome" "AR" "617099" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"FAM105B" "06659"
## 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}}"
"00050565" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}" "{{diseaseid}}"
"00050565" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 06659
## Count = 1
"{{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}}"
"0000037177" "00198" "00050565" "00006" "Isolated (sporadic)" "" "cognitive impairment, restlessness, inappropriate behavior" "" "" "" "" "" "" "" "" "" "" ""
## 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}}"
"0000050510" "00050565" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{geneid}}"
"0000050510" "GSPT2"
## 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 = 18
"{{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}}"
"0000079490" "0" "90" "5" "10973413" "15937446" "del" "0" "00006" "CTNND2_000002" "g.10973413_15937446del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" ""
"0000524684" "0" "30" "5" "14681653" "14681653" "subst" "0.000700782" "02326" "FAM105B_000001" "g.14681653G>C" "" "" "" "OTULIN(NM_138348.5):c.405G>C (p.L135=), OTULIN(NM_138348.6):c.405G>C (p.L135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14681544G>C" "" "likely benign" ""
"0000524685" "0" "50" "5" "14687620" "14687620" "subst" "0.000784549" "01943" "FAM105B_000002" "g.14687620G>A" "" "" "" "OTULIN(NM_138348.5):c.469-10G>A, OTULIN(NM_138348.6):c.469-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14687511G>A" "" "VUS" ""
"0000524686" "0" "30" "5" "14687620" "14687620" "subst" "0.000784549" "02326" "FAM105B_000002" "g.14687620G>A" "" "" "" "OTULIN(NM_138348.5):c.469-10G>A, OTULIN(NM_138348.6):c.469-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14687511G>A" "" "likely benign" ""
"0000609558" "0" "50" "5" "14690188" "14690188" "subst" "0.000121909" "01943" "FAM105B_000003" "g.14690188A>G" "" "" "" "OTULIN(NM_138348.5):c.635A>G (p.Q212R), OTULIN(NM_138348.6):c.635A>G (p.Q212R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14690079A>G" "" "VUS" ""
"0000655317" "0" "30" "5" "14665108" "14665114" "dup" "0" "02326" "FAM105B_000004" "g.14665108_14665114dup" "" "" "" "OTULIN(NM_138348.6):c.152+19_152+25dupGGGGCGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14664999_14665005dup" "" "likely benign" ""
"0000655318" "0" "50" "5" "14693131" "14693131" "dup" "0" "01943" "FAM105B_000005" "g.14693131dup" "" "" "" "OTULIN(NM_138348.5):c.1033dupA (p.R345Kfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14693022dup" "" "VUS" ""
"0000689452" "0" "30" "5" "14681653" "14681653" "subst" "0.000700782" "01943" "FAM105B_000001" "g.14681653G>C" "" "" "" "OTULIN(NM_138348.5):c.405G>C (p.L135=), OTULIN(NM_138348.6):c.405G>C (p.L135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000850821" "0" "50" "5" "14692990" "14692990" "subst" "4.06607E-6" "01943" "FAM105B_000007" "g.14692990G>A" "" "" "" "OTULIN(NM_138348.5):c.892G>A (p.V298M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000859799" "0" "30" "5" "14665053" "14665053" "subst" "0" "02326" "FAM105B_000006" "g.14665053A>G" "" "" "" "OTULIN(NM_138348.6):c.119A>G (p.Q40R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000886659" "0" "30" "5" "14665108" "14665114" "del" "0" "02326" "FAM105B_000008" "g.14665108_14665114del" "" "" "" "OTULIN(NM_138348.6):c.152+22_152+28delGCGCGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000886660" "0" "30" "5" "14678803" "14678803" "subst" "0" "02326" "FAM105B_000009" "g.14678803C>T" "" "" "" "OTULIN(NM_138348.6):c.243C>T (p.S81=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000886661" "0" "70" "5" "14690272" "14690272" "subst" "0" "02327" "FAM105B_000010" "g.14690272C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000912254" "0" "30" "5" "14693034" "14693034" "subst" "0.00110471" "02326" "FAM105B_000011" "g.14693034G>A" "" "" "" "OTULIN(NM_138348.6):c.936G>A (p.T312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000929033" "0" "30" "5" "14690188" "14690188" "subst" "0.000121909" "02326" "FAM105B_000003" "g.14690188A>G" "" "" "" "OTULIN(NM_138348.5):c.635A>G (p.Q212R), OTULIN(NM_138348.6):c.635A>G (p.Q212R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000976635" "0" "50" "5" "14690188" "14690188" "subst" "0.000121909" "02325" "FAM105B_000003" "g.14690188A>G" "" "" "" "OTULIN(NM_138348.5):c.635A>G (p.Q212R), OTULIN(NM_138348.6):c.635A>G (p.Q212R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000994760" "0" "50" "5" "14673768" "14673768" "subst" "2.43863E-5" "01804" "FAM105B_000012" "g.14673768G>A" "" "" "" "FAM105B(NM_138348.4):c.170G>A (p.(Arg57His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001025052" "0" "50" "5" "14681580" "14681580" "subst" "2.47058E-5" "02325" "FAM105B_000013" "g.14681580A>G" "" "" "" "OTULIN(NM_138348.6):c.332A>G (p.E111G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
## 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 FAM105B
## Count = 18
"{{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}}"
"0000079490" "00007531" "00" "-3691522" "0" "1245348" "0" "c.-3691522_*1244289del" "r.0?" "p.0?" ""
"0000524684" "00007531" "30" "405" "0" "405" "0" "c.405G>C" "r.(?)" "p.(Leu135=)" ""
"0000524685" "00007531" "50" "469" "-10" "469" "-10" "c.469-10G>A" "r.(=)" "p.(=)" ""
"0000524686" "00007531" "30" "469" "-10" "469" "-10" "c.469-10G>A" "r.(=)" "p.(=)" ""
"0000609558" "00007531" "50" "635" "0" "635" "0" "c.635A>G" "r.(?)" "p.(Gln212Arg)" ""
"0000655317" "00007531" "30" "152" "22" "152" "28" "c.152+22_152+28dup" "r.(=)" "p.(=)" ""
"0000655318" "00007531" "50" "1033" "0" "1033" "0" "c.1033dup" "r.(?)" "p.(Arg345LysfsTer4)" ""
"0000689452" "00007531" "30" "405" "0" "405" "0" "c.405G>C" "r.(?)" "p.(Leu135=)" ""
"0000850821" "00007531" "50" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Val298Met)" ""
"0000859799" "00007531" "30" "119" "0" "119" "0" "c.119A>G" "r.(?)" "p.(Gln40Arg)" ""
"0000886659" "00007531" "30" "152" "22" "152" "28" "c.152+22_152+28del" "r.(=)" "p.(=)" ""
"0000886660" "00007531" "30" "243" "0" "243" "0" "c.243C>T" "r.(?)" "p.(Ser81=)" ""
"0000886661" "00007531" "70" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Ala240Val)" ""
"0000912254" "00007531" "30" "936" "0" "936" "0" "c.936G>A" "r.(?)" "p.(Thr312=)" ""
"0000929033" "00007531" "30" "635" "0" "635" "0" "c.635A>G" "r.(?)" "p.(Gln212Arg)" ""
"0000976635" "00007531" "50" "635" "0" "635" "0" "c.635A>G" "r.(?)" "p.(Gln212Arg)" ""
"0000994760" "00007531" "50" "170" "0" "170" "0" "c.170G>A" "r.(?)" "p.(Arg57His)" ""
"0001025052" "00007531" "50" "332" "0" "332" "0" "c.332A>G" "r.(?)" "p.(Glu111Gly)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{variantid}}"
"0000050510" "0000079490"