Property Summary

NCBI Gene PubMed Count 9
Grant Count 1
R01 Count 1
Funding $264,144
PubMed Score 6.52
PubTator Score 5.98

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
interstitial lung disease 1.200 0.026
posterior fossa group A ependymoma -2.100 0.000
group 3 medulloblastoma -2.300 0.012
medulloblastoma, large-cell -2.200 0.001
breast carcinoma -1.500 0.001
adult high grade glioma -1.100 0.005
Breast cancer -4.000 0.000
Pick disease 1.500 0.004
progressive supranuclear palsy 1.100 0.015
ovarian cancer -2.800 0.000
pituitary cancer -2.600 0.000
psoriasis -1.900 0.000

Synonym

Accession Q96NR3 B4DQH0 Q0IJ60 Q6P6B8
Symbols AUTSX4

Gene

PANTHER Protein Class (1)

 Grant Application (1)

Gene RIF (5)

PMID Text
25782667 both common and rare PTCHD1 variants contribute to autism spectrum disorder.
25131214 Our findings suggest that hemizygous PTCHD1 loss of function causes an X-linked neurodevelopmental disorder with a strong propensity to autistic behaviors.
21091464 Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.
20844286 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.
20531469 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)

AA Sequence

MLRQVLHRGLRTCFSRLGHFIASHPVFFASAPVLISILLGASFSRYQVEESVEHLLAPQHSLAKIERNLV      1 - 70
NSLFPVNRSKHRLYSDLQTPGRYGRVIVTSFQKANMLDQHHTDLILKLHAAVTKIQVPRPGFNYTFAHIC     71 - 140
ILNNDKTCIVDDIVHVLEELKNARATNRTNFAITYPITHLKDGRAVYNGHQLGGVTVHSKDRVKSAEAIQ    141 - 210
LTYYLQSINSLNDMVAERWESSFCDTVRLFQKSNSKVKMYPYTSSSLREDFQKTSRVSERYLVTSLILVV    211 - 280
TMAILCCSMQDCVRSKPWLGLLGLVTISLATLTAAGIINLTGGKYNSTFLGVPFVMLGHGLYGTFEMLSS    281 - 350
WRKTREDQHVKERTAAVYADSMLSFSLTTAMYLVTFGIGASPFTNIEAARIFCCNSCIAIFFNYLYVLSF    351 - 420
YGSSLVFTGYIENNYQHSIFCRKVPKPEALQEKPAWYRFLLTARFSEDTAEGEEANTYESHLLVCFLKRY    421 - 490
YCDWITNTYVKPFVVLFYLIYISFALMGYLQVSEGSDLSNIVATATQTIEYTTAQQKYFSNYSPVIGFYI    491 - 560
YESIEYWNTSVQEDVLEYTKGFVRISWFESYLNYLRKLNVSTGLPKKNFTDMLRNSFLKAPQFSHFQEDI    561 - 630
IFSKKYNDEVDVVASRMFLVAKTMETNREELYDLLETLRRLSVTSKVKFIVFNPSFVYMDRYASSLGAPL    631 - 700
HNSCISALFLLFFSAFLVADSLINVWITLTVVSVEFGVIGFMTLWKVELDCISVLCLIYGINYTIDNCAP    701 - 770
MLSTFVLGKDFTRTKWVKNALEVHGVAILQSYLCYIVGLIPLAAVPSNLTCTLFRCLFLIAFVTFFHCFA    771 - 840
ILPVILTFLPPSKKKRKEKKNPENREEIECVEMVDIDSTRVVDQITTV                          841 - 888
//

Text Mined References (11)

PMID Year Title
25782667 2015 Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.
25131214 2015 Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
22610502 2012 Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
21091464 2011 Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.
20844286 2010 Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
20531469 2010 Functional impact of global rare copy number variation in autism spectrum disorders.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
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