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139411 PTCHD1

139411

PTCHD1

patched domain containing 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition patched domain containing 1

研究结论

Date Results Publications
2021-01-09 13:25:00 Synaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-AS. 31540669
2016-08-27 12:36:00 both common and rare PTCHD1 variants contribute to autism spectrum disorder. 25782667
2016-05-14 11:22:00 Our findings suggest that hemizygous PTCHD1 loss of function causes an X-linked neurodevelopmental disorder with a strong propensity to autistic behaviors. 25131214
2011-03-26 12:10:00 Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. 21091464
2011-01-01 11:34:00 Systematic screen of PTCHD1 and its 5' flanking regions suggests that this locus is involved in ~1% of individuals with autism spectrum disorder and intellectual disability. 20844286

名称对应

Type IDs
Synonymous AUTSX4
Gene
UniProtKB-ID: PTHD1_HUMAN, X5DNX9_HUMAN
UniprotKB: Q96NR3, X5DNX9
UniParc: UPI000059DAD8, UPI000013E46B, UPI000021FB64
EMBL: KJ534921, AK054858, AK298796, BC062344, AC073910, BC121061
Ensembl: ENSG00000165186
KO: hsa:139411
Nucleutide sequences
EMBL-CDS: BAB70816.1, BAG60932.1, AAH62344.1, AAI21062.1, AHW56561.1
Ensembl_TRS: ENST00000379361
Protein sequencees
Ensembl_PRO: ENSP00000368666
RefSeq: NP_775766.2, XP_011543751.1
Others
UniRef100: UniRef100_Q96NR3
UniRef90: UniRef90_Q96NR3
UniRef50: UniRef50_Q96NR3
UniGene: Hs.319503
CCDS: CCDS35215.2

全选

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研究热度

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