Evidence Details for PTCH1

View Evidences	View Variants	View Annotations

Basic Information Top

Gene Symbol:	PTCH1 ( BCNS,FLJ26746,FLJ42602,HPE7,NBCCS,PTC,PTC1,PTCH,PTCH11 )
Gene Full Name:	patched 1
Band:	9q22.32
Quick Links	Entrez ID:5727; OMIM: 601309; Uniprot ID:PTC1_HUMAN; ENSEMBL ID: ENSG00000185920; HGNC ID: 9585
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>PTCH1|5727|nucleotide
ATGGCCTCGGCTGGTAACGCCGCCGAGCCCCAGGACCGCGGCGGCGGCGGCAGCGGCTGTATCGGTGCCCCGGGACGGCCGGCTGGAGGCGGGAGGCGCAGACGG
ACGGGGGGGCTGCGCCGTGCTGCCGCGCCGGACCGGGACTATCTGCACCGGCCCAGCTACTGCGACGCCGCCTTCGCTCTGGAGCAGATTTCCAAGGGGAAGGCT
ACTGGCCGGAAAGCGCCGCTGTGGCTGAGAGCGAAGTTTCAGAGACTCTTATTTAAACTGGGTTGTTACATTCAAAAAAACTGCGGCAAGTTCTTGGTTGTGGGC
CTCCTCATATTTGGGGCCTTCGCGGTGGGATTAAAAGCAGCGAACCTCGAGACCAACGTGGAGGAGCTGTGGGTGGAAGTTGGAGGACGAGTAAGTCGTGAATTA
AATTATACTCGCCAGAAGATTGGAGAAGAGGCTATGTTTAATCCTCAACTCATGATACAGACCCCTAAAGAAGAAGGTGCTAATGTCCTGACCACAGAAGCGCTC
CTACAACACCTGGACTCGGCACTCCAGGCCAGCCGTGTCCATGTATACATGTACAACAGGCAGTGGAAATTGGAACATTTGTGTTACAAATCAGGAGAGCTTATC
ACAGAAACAGGTTACATGGATCAGATAATAGAATATCTTTACCCTTGTTTGATTATTACACCTTTGGACTGCTTCTGGGAAGGGGCGAAATTACAGTCTGGGACA
GCATACCTCCTAGGTAAACCTCCTTTGCGGTGGACAAACTTCGACCCTTTGGAATTCCTGGAAGAGTTAAAGAAAATAAACTATCAAGTGGACAGCTGGGAGGAA
ATGCTGAATAAGGCTGAGGTTGGTCATGGTTACATGGACCGCCCCTGCCTCAATCCGGCCGATCCAGACTGCCCCGCCACAGCCCCCAACAAAAATTCAACCAAA
CCTCTTGATATGGCCCTTGTTTTGAATGGTGGATGTCATGGCTTATCCAGAAAGTATATGCACTGGCAGGAGGAGTTGATTGTGGGTGGCACAGTCAAGAACAGC
ACTGGAAAACTCGTCAGCGCCCATGCCCTGCAGACCATGTTCCAGTTAATGACTCCCAAGCAAATGTACGAGCACTTCAAGGGGTACGAGTATGTCTCACACATC
Show »

>PTCH1|5727|protein
MASAGNAAEPQDRGGGGSGCIGAPGRPAGGGRRRRTGGLRRAAAPDRDYLHRPSYCDAAFALEQISKGKATGRKAPLWLRAKFQRLLFKLGCYIQKNCGKFLVVG
LLIFGAFAVGLKAANLETNVEELWVEVGGRVSRELNYTRQKIGEEAMFNPQLMIQTPKEEGANVLTTEALLQHLDSALQASRVHVYMYNRQWKLEHLCYKSGELI
TETGYMDQIIEYLYPCLIITPLDCFWEGAKLQSGTAYLLGKPPLRWTNFDPLEFLEELKKINYQVDSWEEMLNKAEVGHGYMDRPCLNPADPDCPATAPNKNSTK
PLDMALVLNGGCHGLSRKYMHWQEELIVGGTVKNSTGKLVSAHALQTMFQLMTPKQMYEHFKGYEYVSHINWNEDKAAAILEAWQRTYVEVVHQSVAQNSTQKVL
SFTTTTLDDILKSFSDVSVIRVASGYLLMLAYACLTMLRWDCSKSQGAVGLAGVLLVALSVAAGLGLCSLIGISFNAATTQVLPFLALGVGVDDVFLLAHAFSET
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.

Evidences	Syndromic Gene	GWAS	CNV	Linkage	Association	Expression	NGS de novo	NGS Mosaic	NGS Other	Low-Scale Gene Studies	Total
Score (No. of Studies)	No	0 (0)	0 (0)	0 (0)	0 (0)	1 (1)	1 (2)	0 (0)	0 (0)	0 (0)	11 (3)

Syndromic Autism Gene Top

Genome-Wide Association Studies(By Ethnic Group) Top

Reference	Stage	Platform	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

Reference	Stage	Platform	ASD Cases	Normal Controls	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

CNV Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
No matched CNVs !

Linkage Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family	Individual
Total	Simplex	Multiplex	Control	Affected	Control	Total
No Matched Linkage Regions !

Low Scale Association Studies (by Ethnic Group) Top

Reference	Source	Platform	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

Reference	Source	Platfrom	ASD Cases	Normal Controls	Result
ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

Large Scale Expression Studies Top

Microarray Studies: 1

Reference	Source	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
Gregg, 2008_2	mixed	lymphoblastoid cell lines	17 (11.76%)			autism with early onset	autism	12 (25.00%)	1.605	Up	0.0375
Platform: U133 Plus 2.0 GeneChip (Affymetrix,Santa Clara, CA, USA) ProbeSet: 209815_at RefSeq_ID/ EST: BG054916 GEO_ID: GSE6575 Statistic Method: a stringent 1.5-fold unpaired t test with Benjamini

Proteomics Studies:0

Reference	Source	Tissue	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Normal Controls(% Women)
No Evidence.

NGS de novo Mutation Studies Top

Reference	Case Number	Family Number	de novo Number	Title
Yuen RK, 2016	200	-	301	Genome-wide characteristics of de novo mutations in autism.
Takata A, 2018	262	262	322	Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di

NGS Mosaic SNV Studies Top

Reference	Case Number	Family Number	Mosaic Number	Title
No matched NGS Mosaic SNVs!

NGS Other Studies Top

Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Family			Affected	Validation Method
Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Affected	Validation Method
No matched NGS Other Studies!

Low Scale Gene Studies Top

Reference	Organism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level	Result
No Evidence.

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

AutismKB 2.0

Evidence Details for PTCH1

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics