COL25A1 - collagen type XXV alpha 1 chain-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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84570 COL25A1

基因描述

Type	Description
Definition	collagen type XXV alpha 1 chain

研究结论

Date	Results	Publications
2016-06-04 10:18:00	We highlight phenotypes of the 4 affected children from the 2 reported families: isolated congenital ptosis (one unilateral, one bilateral) and Duane syndrome (one unilateral, one bilateral) with synergistic divergence.	26486031
2015-03-21 13:02:00	We identified COL25A1 mutations as a cause of autosomal-recessive congenital cranial dysinnervation disorder.	25500261
2013-04-20 14:11:00	COL25A1 methylation correlates with severity of cervical intraepithelial neoplasia	23018867
2012-08-18 10:18:00	The COL25A1 single nucleotide polymorphism rs13134663 was significantly associated with antisocial personality disorder, especially in subjects with comorbid substance dependence.	22297151
2012-02-04 11:34:00	The next best locus for gene x gender interactions for age at onset was in COL25A1 gene at 4q25	21688384

名称对应

Type	IDs
Synonymous	AMY, CFEOM5, CLAC, CLAC-P, CLACP
Gene	UniProtKB-ID: COPA1_HUMAN, A0A2R8Y760_HUMAN, A8MWQ5_HUMAN UniprotKB: Q9BXS0, A0A2R8Y760, A8MWQ5 UniParc: UPI0000225CD1, UPI000155D60C, UPI0005D02BEE, UPI0001D14745, UPI0000225CD2 EMBL: KF457804, AC097473, AC095066, AC004701, AC004051, AF293340, KF457803, AC073427, AF293341 Ensembl: ENSG00000188517 KO: hsa:84570
Nucleutide sequences	EMBL-CDS: AAK35008.1, AAK35009.1 Ensembl_TRS: ENST00000399126, ENST00000399132, ENST00000642955, ENST00000399127
Protein sequencees	Ensembl_PRO: ENSP00000382083, ENSP00000382077, ENSP00000495847, ENSP00000382078 RefSeq: XP_016864226.1, XP_011530660.1, XP_011530636.1, NP_115907.2, XP_011530635.1, XP_016864225.1, XP_011530657.1, NP_942014.1, NP_001243003.1, XP_011530637.1, XP_011530658.1, XP_011530640.1, XP_016864224.1
Others	UniRef100: UniRef100_A8MWQ5, UniRef100_Q9BXS0, UniRef100_A0A2R8Y760 UniRef90: UniRef90_Q9BXS0, UniRef90_A8MWQ5 UniRef50: UniRef50_Q9BXS0-3, UniRef50_Q9BXS0 UniGene: Hs.658842 CCDS: CCDS43258.1, CCDS43259.1

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mRNA

Protein

UniprotKB

Description

Refseq

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Pubmed编号	文献信息	发表日期	相关基因
29987050	Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Proc. Natl. Acad. Sci. U.S.A. Tengfei Xiao , Wei Li , Xiaoqing Wang , Han Xu , Jixin Yang , Qiu Wu , Ying Huang , Joseph Geradts , Peng Jiang , Teng Fei , David Chi , Chongzhi Zang , Qi Liao , Jonathan Rennhack , Eran Andrechek , Nanlin Li , Simone Detre , Mitchell Dowsett , Rinath M Jeselsohn , X Shirley Liu , Myles Brown	2018-07-31	-
28514442	Architecture of the human interactome defines protein communities and disease networks. Nature Edward L Huttlin , Raphael J Bruckner , Joao A Paulo , Joe R Cannon , Lily Ting , Kurt Baltier , Greg Colby , Fana Gebreab , Melanie P Gygi , Hannah Parzen , John Szpyt , Stanley Tam , Gabriela Zarraga , Laura Pontano-Vaites , Sharan Swarup , Anne E White , Devin K Schweppe , Ramin Rad , Brian K Erickson , Robert A Obar , K G Guruharsha , Kejie Li , Spyros Artavanis-Tsakonas , Steven P Gygi , J Wade Harper	2017-05-25	-
26760575	High-throughput analyses of hnRNP H1 dissects its multi-functional aspect. RNA Biol Philip J Uren , Emad Bahrami-Samani , Patricia Rosa de Araujo , Christine Vogel , Mei Qiao , Suzanne C Burns , Andrew D Smith , Luiz O F Penalva	2016-01-01	-
26486031	Recessive COL25A1 mutations cause isolated congenital ptosis or exotropic Duane syndrome with synergistic divergence. J AAPOS Arif O Khan , Saleh Al-Mesfer	2015-10-01	-
25500261	Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder. Am J Hum Genet Jameela M A Shinwari , Arif Khan , Salma Awad , Zakia Shinwari , Ayodele Alaiya , Mohamad Alanazi , Asma Tahir , Coralie Poizat , Nada Al Tassan	2015-01-08	-
25133637	Genome-wide association studies and heritability estimates of body mass index related phenotypes in Bangladeshi adults. PLoS One Molly Scannell Bryan , Maria Argos , Brandon Pierce , Lin Tong , Muhammad Rakibuz-Zaman , Alauddin Ahmed , Mahfuzar Rahman , Tariqul Islam , Muhammad Yunus , Faruque Parvez , Shantanu Roy , Farzana Jasmine , John A Baron , Muhammad G Kibriya , Habibul Ahsan	2014-01-01	-
25037231	Extracellular matrix signatures of human primary metastatic colon cancers and their metastases to liver. BMC Cancer Alexandra Naba , Karl R Clauser , Charles A Whittaker , Steven A Carr , Kenneth K Tanabe , Richard O Hynes	2014-01-01	-
23018867	Genome-wide methylation profiling identifies hypermethylated biomarkers in high-grade cervical intraepithelial neoplasia. Epigenetics Ãgnes Lendvai , Frank Johannes , Christina Grimm , Jasper J H Eijsink , RenÃ© Wardenaar , Haukeline H Volders , Harry G Klip , Harry Hollema , Ritsert C Jansen , Ed Schuuring , G Bea A Wisman , Ate G J van der Zee	2012-11-01	-
22297151	Association of COL25A1 with comorbid antisocial personality disorder and substance dependence. Biol. Psychiatry Dawei Li , Hongyu Zhao , Henry R Kranzler , David Oslin , Raymond F Anton , Lindsay A Farrer , Joel Gelernter	2012-04-15	COL25A1
21688384	Genome-wide association analysis of age at onset in schizophrenia in a European-American sample. Am J Med Genet B Neuropsychiatr Genet Ke-Sheng Wang , Xuefeng Liu , Qunyuan Zhang , Nagesh Aragam , Yue Pan	2011-09-01	-

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