Version 2.78

Part Description

LP33287-1   NSD1 gene
The NSD1 gene (nuclear receptor binding SET domain protein 1) [HGNC Gene ID:14234] is located on chromosome 5q35. This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:64324] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
NSD1 gene deletion
Property
Arb
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
NSD1 gene Del Bld/T Ql
Display Name
NSD1 gene del Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
NSD1 gene deletion analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.DEL
Type
Laboratory
First Released
Version 2.13
Last Updated
Version 2.15
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) gen NSD1:arbitrario:punto en el tiempo:tejido, no especificado:ordinal:
es-ES Spanish (Spain) Gen NSD1 Deleción:Arbitrario:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Deleción del gen NSD1:Arbitrario:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) NSD1 gène délétion:Arbitraire:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) NSD1, gene Delezione:Arb:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Arbitrario Delezione genetica Gene NSD1 Genetica molecolare Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) NSD1 유전자 결손:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) NSD1-gen deletie:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen NSD1 gen
pt-BR Portuguese (Brazil) NSD1 deleção do gene:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: nuclear receptor binding SET domain protein 1 gene; ARA267; FLJ22263; HGNC:11418; STO; Sotos syndrome; androgen receptor-associated coregulator 267; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; Deletions; MOLPATH.DELETIONS; MOLPATH.DELETIONS; Molecular pathology
ru-RU Russian (Russian Federation) NSD1 ген делеция:Произв:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Произвольный Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) NSD1 geni delesyon:Sç:Zmlı:Kan/Dk:Srl:Molgen
zh-CN Chinese (China) NSD1 基因 缺失:任意型:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: ARA267;FLJ22263;HGNC:11418;Sotos 综合征;Sotos 综合征（巨脑症，精神发育不全，颜面头颅异形）;STO;家族性 Sotos 综合征;核受体结合 SET 结构域蛋白 1 基因;雄激素受体辅助调节因子 267 任意;任意的;人工型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 全血或组织;血液/组织;血液或组织 分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 染色体缺失;染色体区带缺失;基因缺失;缺损;基因缺损;基因删除;删除;基因丢失 血;血液 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=35645-1