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23394 ADNP

23394

ADNP

activity dependent neuroprotector homeobox

protein-coding

Homo sapiens

基因描述

Type Description
Definition activity dependent neuroprotector homeobox

研究结论

Date Results Publications
2021-04-03 13:33:00 Single Cell ADNP Predictive of Human Muscle Disorders: Mouse Knockdown Results in Muscle Wasting. 33086621
2020-10-24 14:11:00 Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype. 32758449
2020-07-25 10:13:00 Our observations provide a novel activity of the autism-linked ADNP in the skin that may serve to define the clinical phenotype of patients with ADNP syndrome and provide an attractive therapeutic option for skin alterations in these patients. 30679581
2020-05-02 10:41:00 We identified ADNP as being amplified and overexpressed in poor prognosis HGSOC in silico analyses and demonstrated that ADNP is a novel and essential oncogene in HGSOC which mediates proliferation through dysregulation of cell cycle checkpoints in vitro. 31767542
2020-03-21 10:34:00 Study describes two distinct episignatures caused by mutations within ADNP. The "epi-ADNP-1" episignature included mostly hypomethylated CpGs, and the "epi-ADNP-2" episignature included predominantly hypermethylated ones. Both of them correlated with the locations of the ADNP mutations. Epi-ADNP-1 mutations occupy the N- and C-terminus, and epi-ADNP-2 mutations are centered on the nuclear localization signal. 31029150

名称对应

Type IDs
Synonymous ADNP1, HVDAS, MRD28
Gene
UniProtKB-ID: ADNP_HUMAN, Q6DHZ8_HUMAN
UniprotKB: Q9H2P0, Q6DHZ8
UniParc: UPI00003E27A0, UPI00000375B9
EMBL: BC090933, AL080163, AB018327, AL034553, CH471077, AF250860, BC075794
Ensembl: ENSG00000101126
KO: hsa:23394
Nucleutide sequences
EMBL-CDS: BAA34504.1, AAH90933.1, EAW75611.1, AAG47651.1, EAW75612.1, CAB45752.1, AAH75794.1
Ensembl_TRS: ENST00000349014, ENST00000396029, ENST00000396032, ENST00000371602, ENST00000621696
Protein sequencees
Ensembl_PRO: ENSP00000483881, ENSP00000342905, ENSP00000379349, ENSP00000379346, ENSP00000360662
RefSeq: XP_011527050.1, NP_001269461.1, NP_001269460.1, NP_001334440.1, NP_056154.1, NP_852107.1, XP_016883248.1, XP_011527049.1, XP_016883247.1
Others
UniRef100: UniRef100_Q9H2P0, UniRef100_Q6DHZ8
UniRef90: UniRef90_Q9H2P0
UniRef50: UniRef50_Q9H2P0
UniGene: Hs.570355
CCDS: CCDS13433.1

全选

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