{ "url": "https://dantelabs.com/et/genes/atp6ap1", "gene": { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "hgnc": "HGNC:868", "summary": null, "location": "Xq28", "locusType": "gene with protein product", "aliases": [ "ORF", "XAP-3", "VATPS1", "16A", "Ac45", "XAP3", "CF2" ], "previousSymbols": [ "ATP6S1", "ATP6IP1" ], "ensemblId": "ENSG00000071553", "entrezId": 537, "omim": [ "300197" ], "uniprot": [ "Q15904" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "X", "start": 154428677, "end": 154436516, "strand": "+", "ensemblTranscript": "ENST00000369762.7", "refseqTranscript": "NM_001183.6", "ensemblProtein": "ENSP00000358777.2", "refseqProtein": "NP_001174.2", "exons": [ { "start": 154428677, "end": 154428853 }, { "start": 154429048, "end": 154429174 }, { "start": 154431830, "end": 154431904 }, { "start": 154432266, "end": 154432459 }, { "start": 154432931, "end": 154432971 }, { "start": 154433635, "end": 154433720 }, { 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"ubl4a" }, { "symbol": "SLC10A3", "ensemblId": "ENSG00000126903", "biotype": "protein_coding", "start": 154487306, "end": 154490690, "strand": "-", "slug": "slc10a3" }, { "symbol": "FAM3A", "ensemblId": "ENSG00000071889", "biotype": "protein_coding", "start": 154505019, "end": 154516882, "strand": "-", "slug": "fam3a" }, { "symbol": "G6PD", "ensemblId": "ENSG00000160211", "biotype": "protein_coding", "start": 154517825, "end": 154547584, "strand": "-", "slug": "g6pd" }, { "symbol": "IKBKG", "ensemblId": "ENSG00000269335", "biotype": "protein_coding", "start": 154541179, "end": 154568543, "strand": "+", "slug": "ikbkg" }, { "symbol": "CTAG1A", "ensemblId": "ENSG00000268651", "biotype": "protein_coding", "start": 154585133, "end": 154586816, "strand": "+", "slug": "ctag1a" }, { "symbol": "CTAG1B", "ensemblId": "ENSG00000184033", "biotype": "protein_coding", "start": 154617609, "end": 154619282, "strand": "-", "slug": "ctag1b" }, { "symbol": "CTAG2", "ensemblId": "ENSG00000126890", "biotype": "protein_coding", "start": 154651972, "end": 154653579, "strand": "-", "slug": "ctag2" }, { "symbol": "GAB3", "ensemblId": "ENSG00000160219", "biotype": "protein_coding", "start": 154675249, "end": 154751583, "strand": "-", "slug": "gab3" }, { "symbol": "DKC1", "ensemblId": "ENSG00000130826", "biotype": "protein_coding", "start": 154762741, "end": 154777697, "strand": "+", "slug": "dkc1" }, { "symbol": "MPP1", "ensemblId": "ENSG00000130830", "biotype": "protein_coding", "start": 154778684, "end": 154821039, "strand": "-", "slug": "mpp1" }, { "symbol": "SMIM9", "ensemblId": "ENSG00000203870", "biotype": "protein_coding", "start": 154823348, "end": 154834662, "strand": "-", "slug": "smim9" }, { "symbol": "F8", "ensemblId": "ENSG00000185010", "biotype": "protein_coding", "start": 154835788, "end": 155026940, "strand": "-", "slug": "f8" }, { "symbol": "H2AB1", "ensemblId": "ENSG00000274183", "biotype": "protein_coding", "start": 154884972, "end": 154885558, "strand": "+", "slug": "h2ab1" }, { "symbol": "F8A1", "ensemblId": "ENSG00000288722", "biotype": "protein_coding", "start": 154886355, "end": 154888061, "strand": "+", "slug": "f8a1" } ], "truncated": false }, "reports": [ { "slug": "disorder-of-glycosylation", "name": "Glükosüleerimise kaasasündinud häired", "diseases": [ { "mondoId": "MONDO:0015286", "name": "Glükosüleerimise kaasasündinud häired (CDG)", "genes": 98, "inheritance": null, "description": "Suur rühm pärilikke haigusi, mille puhul suhkruahelad (glükaanid) ei moodustu ega kinnitu valkudele ja lipiididele õigesti; need mõjutavad sageli aju, maksa, vere hüübimist, kasvu ja paljusid teisi elundisüsteeme. Enamik neist on autosomaalselt retsessiivse pärilikkusega, kuid osa on X-seotud või autosomaalselt dominantse pärilikkusega.", "management": null, "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/et/conditions/disorder-of-glycosylation" }, { "slug": "immunodeficiency-disease", "name": "Ostali pärilikud immuunpuudulikkused", "diseases": [ { "mondoId": "MONDO:0003778", "name": "Pärilik immuunpuudulikkus", "genes": 114, "inheritance": null, "description": "Pärilikud immuunsüsteemi häired, mis on põhjustatud üksikute geenide muutustest ning mõjutavad seda, kuidas organism infektsioonidega võitleb või põletikku reguleerib.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": true }, { "mondoId": "MONDO:0021094", "name": "Immuunpuudulikkushaigus", "genes": 170, "inheritance": null, "description": "Haigus, mille korral on rakulise või humoraalse immuunsuse mehhanismid puudulikud või defektsed.", "management": "HSCT raske kombineeritud immuunpuudulikkuse (SCID) ja muude raskete PID-ide korral; immunoglobuliini asendusravi (IVIG/SCIG) antikehade puudulikkuse korral; leniolisib (Joenja, FDA 2023) APDS-i korral; geenravi ADA-SCID-i korral; abatatsept CTLA4/LRBA puudulikkuse korral; profülaktilised antibiootikumid; G-CSF CGD korral", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/et/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-protein-n-linked-glycosylation", "name": "Abnormal protein N-linked glycosylation", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-protein-n-linked-glycosylation" }, { "slug": "abnormal-protein-o-linked-glycosylation", "name": "Abnormal protein O-linked glycosylation", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-protein-o-linked-glycosylation" }, { "slug": "hypotelorism", "name": "Abnormally close eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotelorism" }, { "slug": "accessory-spleen", "name": "Accessory spleen", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/accessory-spleen" }, { "slug": "chronic-decreased-circulating-iga-concentration", "name": "Chronic decreased circulating IgA concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-decreased-circulating-iga-concentration" }, { "slug": "chronic-decreased-circulating-total-igg-concentration", "name": "Chronic decreased circulating total IgG concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/chronic-decreased-circulating-total-igg-concentration" }, { "slug": "chronic-diarrhea", "name": "Chronic diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/chronic-diarrhea" }, { "slug": "decreased-circulating-copper-concentration", "name": "Copper deficiency", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-circulating-copper-concentration" }, { "slug": "decreased-total-leukocyte-count", "name": "Decreased blood leukocyte number", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count" }, { "slug": "decreased-circulating-immunoglobulin-concentration", "name": "Decreased circulating antibody level", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration" }, { "slug": "decreased-circulating-igm-concentration", "name": "Decreased circulating IgM concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-circulating-igm-concentration" }, { "slug": "decreased-circulating-total-igg-concentration", "name": "Decreased circulating total IgG concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-circulating-total-igg-concentration" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/joint-hypermobility" }, { "slug": "elevated-circulating-alanine-aminotransferase-concentration", "name": "Elevated circulating alanine aminotransferase concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-alanine-aminotransferase-concentration" }, { "slug": "elevated-circulating-aspartate-aminotransferase-concentration", "name": "Elevated circulating aspartate aminotransferase concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration" }, { "slug": "hypercholesterolemia", "name": "Elevated serum cholesterol", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypercholesterolemia" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "hypermetropia", "name": "Farsightedness", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypermetropia" }, { "slug": "hepatic-steatosis", "name": "Fatty infiltration of liver", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hepatic-steatosis" }, { "slug": "arachnoid-cyst", "name": "Fluid-filled sac located in membrane surrounding brain or spinal cord", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/arachnoid-cyst" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "cutis-laxa", "name": "Hanging skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cutis-laxa" }, { "slug": "hepatic-bridging-fibrosis", "name": "Hepatic bridging fibrosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatic-bridging-fibrosis" }, { "slug": "hepatic-fibrosis", "name": "Hepatic fibrosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hepatic-fibrosis" }, { "slug": "high-forehead", "name": "High forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/high-forehead" }, { "slug": "elevated-circulating-hepatic-transaminase-concentration", "name": "High liver enzymes", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration" }, { "slug": "exocrine-pancreatic-insufficiency", "name": "Inability to properly digest food due to lack of pancreatic digestive enzymes", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/exocrine-pancreatic-insufficiency" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "normocytic-anemia", "name": "Normocytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/normocytic-anemia" }, { "slug": "prolonged-neonatal-jaundice", "name": "Prolonged yellowing of skin in newborn", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prolonged-neonatal-jaundice" }, { "slug": "recurrent-bacterial-infections", "name": "Recurrent bacterial infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-bacterial-infections" }, { "slug": "recurrent-infections", "name": "Recurrent infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-infections" }, { "slug": "cirrhosis", "name": "Scar tissue replaces healthy tissue in the liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cirrhosis" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "cholestasis", "name": "Slowed or blocked flow of bile from liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cholestasis" }, { "slug": "tricuspid-regurgitation", "name": "Tricuspid regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tricuspid-regurgitation" }, { "slug": "type-ii-transferrin-isoform-profile", "name": "Type II transferrin isoform profile", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/type-ii-transferrin-isoform-profile" } ], "related": [ { "slug": "aicda", "symbol": "AICDA", "name": "activation induced cytidine deaminase", "shared": 2, "url": "https://dantelabs.com/et/genes/aicda" }, { "slug": "bcl10", "symbol": "BCL10", "name": "BCL10 immune signaling adaptor", "shared": 2, "url": "https://dantelabs.com/et/genes/bcl10" }, { "slug": "bcl11b", "symbol": "BCL11B", "name": "BCL11 transcription factor B", "shared": 2, "url": "https://dantelabs.com/et/genes/bcl11b" }, { "slug": "blnk", "symbol": "BLNK", "name": "B cell linker", "shared": 2, "url": "https://dantelabs.com/et/genes/blnk" }, { "slug": "btk", "symbol": "BTK", "name": "Bruton tyrosine kinase", "shared": 2, "url": "https://dantelabs.com/et/genes/btk" }, { "slug": "c1qa", "symbol": "C1QA", "name": "complement C1q A chain", "shared": 2, "url": "https://dantelabs.com/et/genes/c1qa" }, { "slug": "c1qb", "symbol": "C1QB", "name": "complement C1q B chain", "shared": 2, "url": "https://dantelabs.com/et/genes/c1qb" }, { "slug": "c1qc", "symbol": "C1QC", "name": "complement C1q C chain", "shared": 2, "url": "https://dantelabs.com/et/genes/c1qc" }, { "slug": "c1s", "symbol": "C1S", "name": "complement C1s", "shared": 2, "url": "https://dantelabs.com/et/genes/c1s" }, { "slug": "c2", "symbol": "C2", "name": "complement C2", "shared": 2, "url": "https://dantelabs.com/et/genes/c2" }, { "slug": "c3", "symbol": "C3", "name": "complement C3", "shared": 2, "url": "https://dantelabs.com/et/genes/c3" }, { "slug": "c4a", "symbol": "C4A", "name": "complement C4A (Chido/Rodgers blood group)", "shared": 2, "url": "https://dantelabs.com/et/genes/c4a" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }