{ "url": "https://dantelabs.com/sv/genes/hax1", "gene": { "slug": "hax1", "symbol": "HAX1", "name": "HCLS1 associated protein X-1", "hgnc": "HGNC:16915", "summary": null, "location": "1q21.3", "locusType": "gene with protein product", "aliases": [ "HS1BP1", "HCLSBP1", "HAX-1" ], "previousSymbols": [], "ensemblId": "ENSG00000143575", "entrezId": 10456, "omim": [ "605998" ], "uniprot": [ "O00165" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 154272629, "end": 154275875, "strand": "+", "ensemblTranscript": "ENST00000328703.12", "refseqTranscript": "NM_006118.4", "ensemblProtein": "ENSP00000329002.7", "refseqProtein": "NP_006109.2", "exons": [ { "start": 154272629, "end": 154272776 }, { "start": 154273336, "end": 154273598 }, { "start": 154273774, "end": 154273961 }, { "start": 154274950, "end": 154275001 }, { "start": 154275154, "end": 154275260 }, { "start": 154275393, "end": 154275483 }, { "start": 154275616, "end": 154275875 } ], "cds": { "start": 154272724, "end": 154275701 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "1", "start": 154244987, "end": 154248351, "strand": "+" }, "neighbourhood": { "release": "116", "start": 153774252, "end": 154774251, "genes": [ { "symbol": "INTS3", "ensemblId": "ENSG00000143624", "biotype": "protein_coding", "start": 153728050, "end": 153774808, "strand": "+", "slug": "ints3" }, { "symbol": "SLC27A3", "ensemblId": "ENSG00000143554", "biotype": "protein_coding", "start": 153774208, "end": 153780180, "strand": "+", "slug": "slc27a3" }, { "symbol": "GATAD2B", "ensemblId": "ENSG00000143614", "biotype": "protein_coding", "start": 153789030, "end": 153923360, "strand": "-", "slug": "gatad2b" }, { "symbol": "DENND4B", "ensemblId": "ENSG00000198837", "biotype": "protein_coding", "start": 153928862, "end": 153946749, "strand": "-", "slug": "dennd4b" }, { "symbol": "CRTC2", "ensemblId": "ENSG00000160741", "biotype": "protein_coding", "start": 153947669, "end": 153958642, "strand": "-", "slug": "crtc2" }, { "symbol": "SLC39A1", "ensemblId": "ENSG00000143570", "biotype": "protein_coding", "start": 153959099, "end": 153968667, "strand": "-", "slug": "slc39a1" }, { "symbol": "", "ensemblId": "ENSG00000285779", "biotype": "protein_coding", "start": 153959151, "end": 153975887, "strand": "-" }, { "symbol": "CREB3L4", "ensemblId": "ENSG00000143578", "biotype": "protein_coding", "start": 153963719, "end": 153974366, "strand": "+", "slug": "creb3l4" }, { "symbol": "JTB", "ensemblId": "ENSG00000143543", "biotype": "protein_coding", "start": 153974269, "end": 153978011, "strand": "-", "slug": "jtb" }, { "symbol": "", "ensemblId": "ENSG00000285641", "biotype": "protein_coding", "start": 153975850, "end": 153986246, "strand": "-" }, { "symbol": "RAB13", "ensemblId": "ENSG00000143545", "biotype": "protein_coding", "start": 153981617, "end": 153986382, "strand": "-", "slug": "rab13" }, { "symbol": "RPS27", "ensemblId": "ENSG00000177954", "biotype": "protein_coding", "start": 153990749, "end": 153992344, "strand": "+", "slug": "rps27" }, { "symbol": "NUP210L", "ensemblId": "ENSG00000143552", "biotype": "protein_coding", "start": 153992690, "end": 154155116, "strand": "-", "slug": "nup210l" }, { "symbol": "TPM3", "ensemblId": "ENSG00000143549", "biotype": "protein_coding", "start": 154155308, "end": 154194648, "strand": "-", "slug": "tpm3" }, { "symbol": "CFAP141", "ensemblId": "ENSG00000163263", "biotype": "protein_coding", "start": 154199085, "end": 154206352, "strand": "-", "slug": "cfap141" }, { "symbol": "LTAP1", "ensemblId": "ENSG00000143612", "biotype": "protein_coding", "start": 154206666, "end": 154220686, "strand": "-", "slug": "ltap1" }, { "symbol": "UBAP2L", "ensemblId": "ENSG00000143569", "biotype": "protein_coding", "start": 154220172, "end": 154271510, "strand": "+", "slug": "ubap2l" }, { "symbol": "AQP10", "ensemblId": "ENSG00000143595", "biotype": "protein_coding", "start": 154321090, "end": 154325329, "strand": "+", "slug": "aqp10" }, { "symbol": "ATP8B2", "ensemblId": "ENSG00000143515", "biotype": "protein_coding", "start": 154325511, "end": 154351307, "strand": "+", "slug": "atp8b2" }, { "symbol": "IL6R", "ensemblId": "ENSG00000160712", "biotype": "protein_coding", "start": 154405141, "end": 154469450, "strand": "+", "slug": "il6r" }, { "symbol": "SHE", "ensemblId": "ENSG00000169291", "biotype": "protein_coding", "start": 154469637, "end": 154502866, "strand": "-", "slug": "she" }, { "symbol": "TDRD10", "ensemblId": "ENSG00000163239", "biotype": "protein_coding", "start": 154501508, "end": 154548147, "strand": "+", "slug": "tdrd10" }, { "symbol": "UBE2Q1", "ensemblId": "ENSG00000160714", "biotype": "protein_coding", "start": 154548550, "end": 154559028, "strand": "-", "slug": "ube2q1" }, { "symbol": "CHRNB2", "ensemblId": "ENSG00000160716", "biotype": "protein_coding", "start": 154567771, "end": 154580013, "strand": "+", "slug": "chrnb2" }, { "symbol": "ADAR", "ensemblId": "ENSG00000160710", "biotype": "protein_coding", "start": 154581695, "end": 154628013, "strand": "-", "slug": "adar" }, { "symbol": "KCNN3", "ensemblId": "ENSG00000143603", "biotype": "protein_coding", "start": 154697455, "end": 154870340, "strand": "-", "slug": "kcnn3" } ], "truncated": false }, "reports": [ { "slug": "severe-congenital-neutropenia", "name": "Svår medfödd neutropeni", "diseases": [ { "mondoId": "MONDO:0018542", "name": "Svår medfödd neutropeni", "genes": 10, "inheritance": null, "description": null, "management": null, "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/severe-congenital-neutropenia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "acute-lymphoblastic-leukemia", "name": "Acute lymphoblastic leukemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/acute-lymphoblastic-leukemia" }, { "slug": "clumsiness", "name": "Clumsiness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/clumsiness" }, { "slug": "conductive-hearing-impairment", "name": "Conductive deafness", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/conductive-hearing-impairment" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "impaired-vibratory-sensation", "name": "Impaired vibratory sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-vibratory-sensation" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "decreased-total-neutrophil-count", "name": "Low blood neutrophil count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count" }, { "slug": "myelodysplasia", "name": "Myelodysplasia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myelodysplasia" }, { "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": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" } ], "related": [ { "slug": "clpb", "symbol": "CLPB", "name": "ClpB family mitochondrial disaggregase", "shared": 1, "url": "https://dantelabs.com/sv/genes/clpb" }, { "slug": "csf3r", "symbol": "CSF3R", "name": "colony stimulating factor 3 receptor", "shared": 1, "url": "https://dantelabs.com/sv/genes/csf3r" }, { "slug": "cxcr2", "symbol": "CXCR2", "name": "C-X-C motif chemokine receptor 2", "shared": 1, "url": "https://dantelabs.com/sv/genes/cxcr2" }, { "slug": "g6pc3", "symbol": "G6PC3", "name": "glucose-6-phosphatase catalytic subunit 3", "shared": 1, "url": "https://dantelabs.com/sv/genes/g6pc3" }, { "slug": "gfi1", "symbol": "GFI1", "name": "growth factor independent 1 transcriptional repressor", "shared": 1, "url": "https://dantelabs.com/sv/genes/gfi1" }, { "slug": "jagn1", "symbol": "JAGN1", "name": "jagunal vesicle mediated transporter 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/jagn1" }, { "slug": "srp54", "symbol": "SRP54", "name": "signal recognition particle 54", "shared": 1, "url": "https://dantelabs.com/sv/genes/srp54" }, { "slug": "vps45", "symbol": "VPS45", "name": "vacuolar protein sorting 45 homolog", "shared": 1, "url": "https://dantelabs.com/sv/genes/vps45" }, { "slug": "was", "symbol": "WAS", "name": "WASP actin nucleation promoting factor", "shared": 1, "url": "https://dantelabs.com/sv/genes/was" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }