| Type | Description |
|---|---|
| Definition | patched domain containing 1 |
| 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 |
| 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
|
| 排名 | 科研单位 | 文献 |
|---|---|---|
| 1 |
University of Toronto |
4 |
| 2 |
University of California |
2 |
| 3 |
The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada. |
2 |
| 4 |
The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada. |
1 |
| 5 |
Helix Research Institute |
1 |
| 排名 | 研究人员 | 文献 |
|---|---|---|
| 1 |
Stephen W Scherer |
3 |
| 2 |
Elena Maestrini |
3 |
| 3 |
Agatino Battaglia |
3 |
| 4 |
Anthony P Monaco |
2 |
| 5 |
Abdul Noor |
2 |