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3730 ANOS1

3730

ANOS1

anosmin 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition anosmin 1

研究结论

Date Results Publications
2021-02-06 13:52:00 Serum levels of ANOS1 serve as a diagnostic biomarker of gastric cancer: a prospective multicenter observational study. 31377880
2020-01-11 10:53:00 The deleterious effect of this mutation on the transcriptional level of ANOS1 gene. 31669640
2018-10-27 10:59:00 Tumor protein p73 (TAp73) and kallmann syndrome 1 sequence protein (KAI1) expression levels are positively correlated in colorectal cancer. 29222041
2018-08-25 11:27:00 A pathogenic variant was identified in the ANOS1 gene on the X chromosome: c.1267C>T, in 2 brothers who were hemizygous, and their mother, who was heterozygous for the variant. 29211946
2018-02-24 10:19:00 Hemizygous mutations were identified in three Kallman syndrome cases: a novel splice acceptor site mutation leading to skipping of exon 5 in the ANOS1 transcript in a patient with self-reported normosmia (but hyposmic upon testing); a recurrent nonsense mutation and a novel 4.8 Mb deletion involving ANOS1 and eight other genes (VCX3B, VCX2, PNPLA4, VCX, STS, HDHD1, VCX3A and NLGN4X) in KS associated with ichthyosis. 28122887

名称对应

Type IDs
Synonymous ADMLX, HH1, HHA, KAL, KAL1, KALIG-1, KMS, WFDC19
Gene
UniProtKB-ID: KALM_HUMAN
UniprotKB: P23352
UniParc: UPI00001AE843
EMBL: AC096511, BC137426, X82034, M97252, S60085, AC005184, AC006062, CH471074, X60299, BC137427
Ensembl: ENSG00000011201
KO: hsa:3730
Nucleutide sequences
EMBL-CDS: EAW98759.1, AAA59202.1, AAI37428.1, AAI37427.1, AAB20108.1, CAA42841.1, CAA57554.1
Ensembl_TRS: ENST00000262648
Protein sequencees
Ensembl_PRO: ENSP00000262648
RefSeq: NP_000207.2, XP_005274558.1
Others
UniRef100: UniRef100_P23352
UniRef90: UniRef90_P23352
UniRef50: UniRef50_P23352
UniGene: Hs.521869
CCDS: CCDS14130.1

全选

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