ASCL1(achaete-scute family bHLH transcription factor 1) 转至新版数据库

基因基本信息

基因基本信息

基因简称(symbol)
    [HGNC]     [GeneCards]     [NCBI]
基因种类(locus group)
同源简称(alias symbol)
基因家族代码(gene_family_id)
    [HGNC]     [GenScript]
omim代码
entrez码
    [Vega]
vega基因码
ensembl基因码
    [Ensembl]
基因家族(gene family)
refseq数据库代号

更多...

基因种类(locus_type)
基因名称状态(status)
location_sortable
同源基因名称(alias name)
基因名称批准使用时间(date_approved_reserved)
基因简称更名时间(date_symbol_changed)
基因名称更名时间(date_name_changed)
更新时间(date_modified)
ucsc码
ena
ccds数据码
uniprot数据码
pubmed代码
mgd码
rgd码
生命科学数据库(lsdb)
更新时间(date modified)
cosmic
mirbase
基因曾用简称(prev symbol)
基因曾用名称(prev name)
homeodb
cosmic
snornabase
bioparadigms slc
orphanet
假基因信息(pseudogeneorg)
horde id
merops
imgt
iuphar
kznf基因类别
mamit-trnadb
cd
LncRNA数据库
酶代码
中间纤维数据库

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基因染色体位置

基因染色体位置

12q22-q23
基因染色体位置图

基因简述

基因简述

This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases. [provided by RefSeq, Jul 2008]

[中文简述(自动翻译):]  该基因编码的碱性螺旋 - 环 - 螺旋（BHLH）家族的转录因子的成员。该蛋白质通过结合到E盒（5‘-CANNTG-3‘）激活转录。与其他bHLH蛋白二聚化所需的有效的DNA结合。此蛋白在神经元的承诺和分化和嗅觉和自主神经元的产生的作用。在这个基因的突变可能有助于在极少数情况下先天性中央低通气综合征（CCHS）表型。 [由RefSeq的，2008年7月提供]

OMIM数据库中对ASCL1基因的介绍     Wikipedia数据库中对ASCL1基因的介绍

基因序列

基因序列

ASCL1基因的碱基序列：[NCBI]

基因突变

基因突变

ASCL1基因的碱基突变：           显示全部snp
rs9506       rs9782       rs731682       rs1042851       rs1353762       rs1391682       rs1803157       rs1874875       rs2291854       rs3061526       rs3834469       rs4578454       rs11111420       rs17450122       rs34212722       rs34631206       rs34660835       rs34959079       rs61941087       rs61941090       rs66942154       rs71303529       rs71438488       rs74988471       rs76185146       rs76247694       rs77173479       rs77898161       rs79368939       rs111534683       rs111605790       rs112254340       rs112508173       rs113043295       rs114008066       rs114276982       rs114855458      
rs116257934       rs117048437       rs138731357       rs139068724       rs140030849       rs142465780       rs143036845       rs143148107       rs143263272       rs143596223       rs143925232       rs143984952       rs144730555       rs145577505       rs146349711       rs146450367       rs147477775       rs147504896       rs148067996       rs148322943       rs148789350       rs148894799       rs150657910       rs151334821       rs180993544       rs181547992       rs183595102       rs183739111       rs183912670       rs184127501       rs187630853       rs187868692       rs189036038       rs189164074       rs190552605       rs192574985       rs192738952       rs199508768       rs369335624       rs370509501       rs370760066       rs372191664       rs373158202       rs373926773       rs375372141       rs376318467       rs377727008       rs398020887       rs529317581       rs530146011       rs530958594       rs531193369       rs531328423       rs531723774       rs532173520       rs532413844       rs532443423       rs533680685       rs534164207       rs534402144       rs534500279       rs535514249       rs535870344       rs536281604       rs536664855       rs536900374       rs537464449       rs537804264       rs539695622       rs540405976       rs540442933       rs541796391       rs542666786       rs542873815       rs543009558       rs544415662       rs545630149       rs545934413       rs545982257       rs546616125       rs547111507       rs547553580       rs547590324       rs548027213       rs548752610       rs548773203       rs550488082       rs550901454       rs551013440       rs551127471       rs551166056       rs552146219       rs552552603       rs552657764       rs554034874       rs554073847       rs554829144       rs555607257       rs555697896       rs556889374       rs557340388       rs558732328       rs559177489       rs560070601       rs560360158       rs560464669       rs561413606       rs561647039       rs562200721       rs562680434       rs562900183       rs565449380       rs565610040       rs566432203       rs567265029       rs567427884       rs567569237       rs568127115       rs568951072       rs570305100       rs570668469       rs572485480       rs573625024       rs573656981       rs575016288       rs575082298       rs575230057       rs575949257       rs576398539       rs576482822       rs576873988       rs577107256       rs577220002       rs727502892       rs745427341       rs745464300       rs746054437       rs746680272       rs747311758       rs747373819       rs747501808       rs748011544       rs748042985       rs748326871       rs748617000       rs748691438       rs748870448       rs749184658       rs749198459       rs749824853       rs749888158       rs750269684       rs750498383       rs750876856       rs751056404       rs751107874       rs751356167       rs751691562       rs751709650       rs751856889       rs752301449       rs752400009       rs752513789       rs753094022       rs753151303       rs753938038       rs754306112       rs754359432       rs754619890       rs754672998       rs755249671       rs755868552       rs756681629       rs756714075       rs757273309       rs757679028       rs757808242       rs757867727       rs758213152       rs758589020       rs758644642       rs759234263       rs759304276       rs759716455       rs760242121       rs760531157       rs760961127       rs761006723       rs761296721       rs761769509       rs761946538       rs762296939       rs762672087       rs762725427       rs763417772       rs763654104       rs763766575       rs764059216       rs764454598       rs764852842       rs765533945       rs765842571       rs765851489       rs766319050       rs766495826       rs767843478       rs768374125       rs768991058       rs769094740       rs769202957       rs769387519       rs769602096       rs770156395       rs770278157       rs770471647       rs770692196       rs771043819       rs771394839       rs771727519       rs771810003       rs772235674       rs772871535       rs772933316       rs773815339       rs775238174       rs775382244       rs775736920       rs775785911       rs775866258       rs776175493       rs776432175       rs776855019       rs777064334       rs777456615       rs778284097       rs778478285       rs778842860       rs778971427       rs779545788       rs779705418       rs779740401       rs780252827       rs780445585       rs780932953       rs781388579       rs781642776      

基因表达

基因表达

ASCL1基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向引物Tm值
反向引物序列
反向引物Tm值
rank
TTCACCAACTGGTTCTGAG
57
TAAAGATGCAGGTTGTGCG
59
TTCACCAACTGGTTCTGAG
57
CTAAAGATGCAGGTTGTGC
57
CTTCACCAACTGGTTCTGAG
59
TAAAGATGCAGGTTGTGCG
59

转录因子

转录因子

转录因子
影响类型
PubMed链接
CHRNA3
Unknown
20124469
CHRNA5
Unknown
20124469
CHRNB4
Unknown
20124469
DKK1
Repression
19744316
IGF2
Repression
20842449
PCSK6
Repression
11736660
TPH1
Repression
19744316

基因本体信息

ASCL1基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 溶酶体
  • 内涵体
  • 细胞核
  • 细胞质
  • 液泡
  • 细胞膜
  • 细胞外基质
  • 内质网
  • 线粒体
  • 高尔基体
  • 细胞骨架

ASCL1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0000122
P50553(UniProtKB)
IDA
GO:0000978
P50553(UniProtKB)
IDA
GO:0000989
P50553(UniProtKB)
ISS
GO:0001078
P50553(UniProtKB)
IDA
GO:0001764
P50553(UniProtKB)
IEA
GO:0003358
P50553(UniProtKB)
ISS
GO:0003359
P50553(UniProtKB)
IMP
GO:0003677
P50553(UniProtKB)
ISS
GO:0003682
P50553(UniProtKB)
IEA
GO:0003700
P50553(UniProtKB)
IDA
GO:0005515
P50553(UniProtKB)
IPI
GO:0005515
P50553(UniProtKB)
IPI
GO:0005634
P50553(UniProtKB)
IDA
GO:0005634
P50553(UniProtKB)
IDA
GO:0005634
P50553(UniProtKB)
IDA
GO:0006351
P50553(UniProtKB)
IEA
GO:0007219
P50553(UniProtKB)
IDA
GO:0007346
P50553(UniProtKB)
IEA
GO:0007400
P50553(UniProtKB)
IEA
GO:0007405
P50553(UniProtKB)
IEA
GO:0010226
P50553(UniProtKB)
IEA
GO:0010468
P50553(UniProtKB)
ISS
GO:0014003
P50553(UniProtKB)
IEA
GO:0021527
P50553(UniProtKB)
IEA
GO:0021530
P50553(UniProtKB)
IEA
GO:0021750
P50553(UniProtKB)
IEA
GO:0021892
P50553(UniProtKB)
IEP
GO:0021902
P50553(UniProtKB)
IEA
GO:0021954
P50553(UniProtKB)
IEA
GO:0021987
P50553(UniProtKB)
IEA
GO:0022008
P50553(UniProtKB)
IDA
GO:0030856
P50553(UniProtKB)
IEA
GO:0032526
P50553(UniProtKB)
IEP
GO:0042803
P50553(UniProtKB)
IEA
GO:0043025
P50553(UniProtKB)
IEA
GO:0043066
P50553(UniProtKB)
IMP
GO:0043425
P50553(UniProtKB)
IPI
GO:0043425
P50553(UniProtKB)
IPI
GO:0043525
P50553(UniProtKB)
IEA
GO:0045665
P50553(UniProtKB)
IDA
GO:0045666
P50553(UniProtKB)
ISS
GO:0045747
P50553(UniProtKB)
IEA
GO:0045787
P50553(UniProtKB)
IEA
GO:0045892
P50553(UniProtKB)
IDA
GO:0045944
P50553(UniProtKB)
IDA
GO:0048469
P50553(UniProtKB)
IEA
GO:0048485
P50553(UniProtKB)
NAS
GO:0048665
P50553(UniProtKB)
IEA
GO:0050883
P50553(UniProtKB)
IEA
GO:0051593
P50553(UniProtKB)
IEA
GO:0060163
P50553(UniProtKB)
IEA
GO:0060165
P50553(UniProtKB)
IEA
GO:0060166
P50553(UniProtKB)
IEA
GO:0060487
P50553(UniProtKB)
NAS
GO:0060579
P50553(UniProtKB)
ISS
GO:0061100
P50553(UniProtKB)
IEA
GO:0061102
P50553(UniProtKB)
IEA
GO:0061103
P50553(UniProtKB)
IEA
GO:0061104
P50553(UniProtKB)
IEA
GO:0061549
P50553(UniProtKB)
ISS
GO:0070849
P50553(UniProtKB)
IEA
GO:0070888
P50553(UniProtKB)
IDA
GO:0070888
P50553(UniProtKB)
IDA
GO:0071259
P50553(UniProtKB)
IEA
GO:0090575
P50553(UniProtKB)
IBA
GO:2000179
P50553(UniProtKB)
IEA

基因相互作用关系

基因相互作用关系

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

基因相关microRNA

基因相关microRNA

可能调控ASCL1基因的相关microRNA：     

基因通路图

基因通路图

基因的通路属性图
通路基因列表

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Small cell carcinoma of lung 0.124071628 16 0 BeFree_CTD_human
Congenital central hypoventilation 0.120271442 1 0 BeFree_CTD_human
nervous system disorder 0.12 1 0 CTD_human
Acute Lung Injury 0.12 1 0 CTD_human
CCHS WITH HIRSCHSPRUNG DISEASE 0.12 0 1 CLINVAR
Intellectual Disability 0.12 1 0 CTD_human
Cerebrovascular accident 0.080271442 2 0 BeFree_RGD
Hyperplasia 0.08 1 0 RGD
Status Epilepticus 0.08 1 0 RGD
Carcinoma, Neuroendocrine 0.006263026 4 0 BeFree_LHGDN
Parkinson Disease 0.004734064 2 0 GAD
Malignant neoplasm of lung 0.004614512 17 0 BeFree
Carcinoma of lung 0.004071628 15 0 BeFree
Lung Neoplasms 0.003538676 4 0 BeFree_LHGDN
Neuroblastoma 0.003528744 13 0 BeFree
Central neuroblastoma 0.003528744 13 0 BeFree
Carcinoma, Small Cell 0.003267234 3 0 BeFree_LHGDN
Merkel cell carcinoma 0.002995792 2 0 BeFree_LHGDN
Schizophrenia 0.002909916 2 0 BeFree_GAD
Prostatic Neoplasms 0.00272435 1 0 LHGDN
Thyroid Neoplasm 0.00272435 1 0 LHGDN
Sleep Apnea, Obstructive 0.002367032 1 0 GAD
Carcinogenesis 0.001900093 7 0 BeFree
Carcinoid Tumor 0.001085767 4 0 BeFree
Adenocarcinoma 0.000814326 3 0 BeFree
Malignant neoplasm of thyroid 0.000814326 3 0 BeFree
Non-Small Cell Lung Carcinoma 0.000814326 3 0 BeFree
Adenocarcinoma of lung (disorder) 0.000814326 3 0 BeFree
Neuroendocrine Tumors 0.000814326 3 0 BeFree
Thyroid carcinoma 0.000814326 3 0 BeFree
Adenoma 0.000542884 2 0 BeFree
Astrocytoma 0.000542884 2 0 BeFree
Medulloblastoma 0.000542884 2 0 BeFree
Obesity 0.000542884 2 0 BeFree
Olfactory Neuroblastoma 0.000542884 2 0 BeFree
Carcinoid tumor no ICD-O subtype 0.000542884 2 0 BeFree
Differentiating Neuroblastoma 0.000542884 2 0 BeFree
Malignant neoplasm of breast 0.000271442 1 0 BeFree
Squamous cell carcinoma 0.000271442 1 0 BeFree
Epilepsy 0.000271442 1 0 BeFree
Glioma 0.000271442 1 0 BeFree
Hirschsprung Disease 0.000271442 1 0 BeFree
Lymphohistiocytosis, Hemophagocytic 0.000271442 1 0 BeFree
melanoma 0.000271442 1 0 BeFree
Multiple Endocrine Neoplasia Type 1 0.000271442 1 0 BeFree
oligodendroglioma 0.000271442 1 0 BeFree
Neuroectodermal Tumors 0.000271442 1 0 BeFree
Neuroectodermal Tumor, Primitive 0.000271442 1 0 BeFree
Mucoepidermoid Tumor 0.000271442 1 0 BeFree
Medullary carcinoma of thyroid 0.000271442 1 0 BeFree
Fibrosis, Liver 0.000271442 1 0 BeFree
Islet Cell Tumor 0.000271442 1 0 BeFree
Diffuse Astrocytoma 0.000271442 1 0 BeFree
Anaplastic astrocytoma 0.000271442 1 0 BeFree
Pituitary carcinoma 0.000271442 1 0 BeFree
Cerebrovascular Occlusion 0.000271442 1 0 BeFree
Breast Carcinoma 0.000271442 1 0 BeFree
Well Differentiated Oligodendroglioma 0.000271442 1 0 BeFree
Blastoma 0.000271442 1 0 BeFree
Tumor Promotion 0.000271442 1 0 BeFree
Hirschsprung disease 1 0.000271442 1 0 BeFree
Bisphosphonate-associated osteonecrosis 0.000271442 1 0 BeFree

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