### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = FAM5B)
# 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}}"
"FAM5B" "family with sequence similarity 5, member B" "1" "q24" "unknown" "NC_000001.10" "UD_132319213806" "" "http://www.LOVD.nl/BRINP2" "" "1" "13746" "57795" "619359" "1" "1" "1" "1" "Alias FAM5B, DBCCR1L2.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from FAM5B to BRINP2" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-03-26 20:11:45" "00006" "2025-03-26 21:37:01"
## 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}}"
"00007384" "FAM5B" "family with sequence similarity 5, member B" "001" "NM_021165.2" "" "NP_066988.1" "" "" "" "-312" "3246" "2352" "177140633" "177251558" "" "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"
"05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00453313" "" "" "" "1" "" "00006" "{PMID:Cappi 2016:27023170}" "analysis 20 sporadic obsessive-compulsive disorder cases" "" "" "Brazil" "" "0" "" "" "" "OCD139801"
"00464542" "" "" "" "1" "" "00006" "{PMID:Nunes-Santos 2023:37349293}" "2-generation family, 1 affected (with deceased sister), unaffected heterozygous carrier parents" "F" "yes" "Iran" "" "0" "" "" "" "Pat2"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}" "{{diseaseid}}"
"00453313" "00198"
"00464542" "05292"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 05292
## Count = 2
"{{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}}"
"0000341976" "00198" "00453313" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "obsessive-compulsive disorder" ""
"0000350541" "05292" "00464542" "00006" "Familial, autosomal recessive" "01y" "see paper; ..., omphalitis; severe/recurrent bacterial respiratory tract infections, multifocal aseptic bone lesions; impaired wound heeling; scoliosis; pneumatoceles; no autoimmunity; anemia; leukocytosis; lymphocytosis; neutrophilia; eosinophilia; monocytosis; no thrombocytopenia; elevated serum IgA, elevated serum Ige, high acute phase reactants" "" "" "omphalitis" "" "" "" "" "" "IMD113" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000454924" "00453313" "1" "00006" "00006" "2024-08-17 18:11:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio"
"0000466181" "00464542" "1" "00006" "00006" "2025-03-26 19:57:25" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES"
## 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 = 2
"{{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}}"
"0000989876" "0" "50" "1" "177226291" "177226291" "subst" "0" "00006" "FAM5B_000001" "g.177226291C>G" "" "{PMID:Cappi 2016:27023170}" "" "" "" "De novo" "" "" "0" "" "" "g.177257155C>G" "" "VUS" ""
"0001030075" "3" "70" "1" "177199196" "177199196" "subst" "0" "00006" "FAM5B_000002" "g.177199196C>T" "" "{PMID:Nunes-Santos 2023:37349293}" "" "" "variant possibly associated with individual\'s neurologic manifestations" "Germline" "" "" "0" "" "" "g.177230060C>T" "" "likely 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 FAM5B
## Count = 2
"{{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}}"
"0000989876" "00007384" "50" "461" "-21" "461" "-21" "c.461-21C>G" "r.(?)" "p.?" ""
"0001030075" "00007384" "70" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Arg62Trp)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{variantid}}"
"0000454924" "0000989876"
"0000466181" "0001030075"