### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DAB2IP) # 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}}" "DAB2IP" "DAB2 interacting protein" "9" "q33.1-q33.3" "unknown" "NC_000009.11" "UD_136086496994" "" "" "" "1" "17294" "153090" "609205" "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" "2025-12-08 16:43:48" "00006" "2025-12-17 09:31:25" ## 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}}" "00025934" "DAB2IP" "transcript variant 3 (removed from reference sequence)" "000" "NM_001395010.1" "" "NP_001381939.1" "" "" "MANE select" "-142" "6602" "3570" "1" "1" "00006" "2024-06-05 09:51:28" "" "" ## 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}}" "06944" "HAE" "angioedema, hereditary" "" "" "" "" "" "00006" "2022-07-07 09:18:20" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00451426" "" "" "" "7" "" "03256" "{DOI:d\'Apolito 2024:10.1016/j.jaci.2024.05.017}" "Seven cases in a single Argentine family" "" "no" "Argentina" "" "0" "" "" "" "" "00470715" "" "" "" "1" "" "03256" "{DOI:Margaglione 2025:10.1111/all.70184}" "" "F" "no" "Italy" "" "0" "" "" "" "" "00470907" "" "" "" "1" "" "03256" "{DOI:Margaglione 2025:10.1111/all.70184}" "" "F" "no" "Italy" "" "0" "" "" "" "" "00470908" "" "" "" "1" "" "03256" "{DOI:Margaglione 2025:10.1111/all.70184}" "" "F" "no" "Italy" "" "0" "" "" "" "" "00470909" "" "" "" "1" "" "03256" "{DOI:Margaglione 2025:10.1111/all.70184}" "" "F" "no" "Italy" "" "0" "" "" "" "" "00470934" "" "" "" "1" "" "03256" "{DOI:Margaglione 2025:10.1111/all.70184}" "" "M" "no" "Italy" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00451426" "06944" "00470715" "06944" "00470907" "06944" "00470908" "06944" "00470909" "06944" "00470934" "06944" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 06944 ## Count = 6 "{{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}}" "0000340176" "06944" "00451426" "03256" "Familial" "" "Proband presenting with a HAE-nC1-INH clinical phenotype" "" "" "" "" "" "" "" "" "0000355611" "06944" "00470715" "03256" "Familial" "" "Proband presenting with angioedema, with itching of the lips and skin (10 episodes recorded)" "08y" "08y" "" "" "" "" "" "" "0000355786" "06944" "00470907" "03256" "Familial" "" "Proband presenting with a HAE phenotype with normal C1-INH: attacks with face edema, macroglossia, edema of upper the airways (in one case of the glottis), edema of the gastrointestinal tract." "12y" "74y" "" "" "" "" "" "" "0000355787" "06944" "00470908" "03256" "Familial" "" "Proband presenting with a HAE-nC1INH phenotype with subcutaneous edema without urticaria - 1 to 2 attacks per month" "12y" "54y" "" "" "" "" "" "" "0000355788" "06944" "00470909" "03256" "Familial" "" "Proband presenting with a HAE-nC1INH with edema of the lips, cheeks and eyelids - 4 to 5 attacks per year" "12y" "34y" "" "" "" "" "" "" "0000355801" "06944" "00470934" "03256" "Familial" "" "Proband presenting with a HAE-nC1INH phenotype: edema of the forearm and foot, edema of the upper lip - 1 to 2 attaks per year." "39y" "44y" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000453025" "00451426" "1" "03256" "03256" "2024-06-03 10:27:22" "" "" "SEQ-NG" "DNA" "blood" "" "0000472382" "00470715" "1" "03256" "03256" "2025-12-07 22:01:01" "" "" "SEQ-NG" "DNA" "" "" "0000472573" "00470907" "1" "03256" "03256" "2025-12-13 10:53:39" "" "" "?" "DNA" "" "" "0000472574" "00470908" "1" "03256" "03256" "2025-12-13 11:24:37" "" "" "?" "DNA" "" "" "0000472575" "00470909" "1" "03256" "03256" "2025-12-13 11:55:47" "" "" "?" "DNA" "" "" "0000472600" "00470934" "1" "03256" "03256" "2025-12-13 21:38:01" "" "" "?" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000453025" "DAB2IP" "0000472382" "DAB2IP" "0000472573" "DAB2IP" "0000472574" "DAB2IP" "0000472575" "DAB2IP" "0000472600" "DAB2IP" ## 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 = 6 "{{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}}" "0000987497" "0" "90" "9" "124522263" "124522263" "subst" "1.62441E-5" "03256" "DAB2IP_000007" "g.124522263G>A" "0.000008" "{DOI:d\'Apolito 2024:10.1016/j.jaci.2024.05.017}" "" "NM_001395010.1:c.715G>A;p.Asp239Asn" "Loss of function DAB2IP gene variants can induce an imbalance in signalling pathways, such as that VEGFR2-dependent, with subsequent angioedema attacks." "Germline" "yes" "rs752730852" "0" "" "" "g.121759984G>A" "" "pathogenic" "" "0001060957" "0" "70" "9" "124522585" "124522587" "del" "0" "03256" "DAB2IP_000008" "g.124522585_124522587del" "0.0000131" "{DOI:Margaglione 2025:10.1111/all.70184}" "" "NM_032552.4:c.853_855del;p.(K285del)" "In-frame deletion in a critical structure. The Lys285 position is located in the second lysine cluster in the C2 domain, crucial for the binding of DAB2IP to ASK1. ASK1 plays a positive role in induced endothelial permeability and the inhibition results in maintaining barrier function.\r\nIn silico analysis predicted a significant effect of the missense p.\r\n(Lys285del) variation." "Germline" "yes" "" "0" "" "" "g.121760306_121760308del" "" "VUS" "" "0001061219" "0" "70" "9" "124530781" "124530781" "subst" "2.03028E-5" "03256" "DAB2IP_000009" "g.124530781C>T" "0.0000137" "{DOI:Margaglione 2025:10.1111/all.70184}" "" "NM_001395010.1:c.1768C>T;p.(R590C)" "Arg590 is predicted to be in the binding pocket P18, which may affect the affinity to ligands and produce an important effect in binding capabilities. The Cys substitution disturbs bond formation with nearby residues, with Asn587 and Glu594." "Germline" "yes" "rs766959002" "0" "" "" "g.121768502C>T" "" "pathogenic" "" "0001061220" "0" "90" "9" "124535526" "124535526" "subst" "0.00519584" "03256" "DAB2IP_000010" "g.124535526C>T" "0.00886" "{DOI:Margaglione 2025:10.1111/all.70184}" "" "NM_032552.4:c.2719C>T;p.(R907W)" "The Arg907 residue is in a region crucial for binding to AKT1 (aa 646–943). In silico analysis predicts a significant effect of the missense p.Arg907Trp variation on protein stability; ΔΔG Stability of 0.52 kcal/mol destabilising." "Germline" "yes" "rs56200518" "0" "" "" "g.121773247C>T" "" "VUS" "" "0001061221" "0" "70" "9" "124535704" "124535704" "subst" "0.0011856" "03256" "DAB2IP_000011" "g.124535704G>A" "0.0004261" "{DOI:Margaglione 2025:10.1111/all.70184}" "" "NM_032552.4:c.2897G>A;p.(R966H)" "The Arg966 residue lies in a disordered region (residues #895–998) that contains a series of Serines that are predicted to undergo post-translational modification through phosphorylation. In silico analysis predicted a significant effect on the phosphorylation of Serines at residues #964 and #971: A Arg to His transition reduces phosphorylation at residues Ser#964 and Ser#971." "Germline" "yes" "" "0" "" "" "g.121773425G>A" "" "pathogenic" "" "0001061249" "0" "70" "9" "124535757" "124535757" "subst" "3.28321E-5" "03256" "DAB2IP_000012" "g.124535757C>T" "0.0000526" "" "" "NM_001395010.1:c.2950C>T;p.(R984W)" "The Arg to Trp substitution may disturb bond formation with nearby residues, Val982 and lys986. Protein modelling analysis predicted a significant effect of the missense p.Arg984Trp variation.\r\nStructure prediction: ΔΔG Stability 0.46 kcal/mol destabilising P48 pocket containing\r\nArg984Trp." "Germline" "" "rs774366709" "0" "" "" "g.121773478C>T" "" "pathogenic" "" ## 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 DAB2IP ## Count = 6 "{{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}}" "0000987497" "00025934" "90" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Asp239Asn)" "6" "0001060957" "00025934" "70" "853" "0" "855" "0" "NM_032552.4:c.853_855del" "r.(853_855del)" "p.(Lys285del)" "6" "0001061219" "00025934" "70" "1768" "0" "1768" "0" "c.1768C>T" "r.(1768C>T)" "p.(Arg590Cys)" "10" "0001061220" "00025934" "90" "2719" "0" "2719" "0" "c.2719C>T" "r.(2719C>T)" "p.(Arg907Trp)" "12" "0001061221" "00025934" "70" "0" "0" "0" "0" "c.2897G > A" "r.(2897G>A)" "p.(Arg966His)" "12" "0001061249" "00025934" "70" "2950" "0" "2950" "0" "c.2950C>T" "r.(2950C>T)" "p.(Arg984Trp)" "12" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000453025" "0000987497" "0000472382" "0001060957" "0000472573" "0001061219" "0000472574" "0001061220" "0000472575" "0001061221" "0000472600" "0001061249"