Evidence Details for PCDH15

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Basic Information Top

Gene Symbol:	PCDH15 ( CDHR15,DFNB23,DKFZp667A1711,USH1F )
Gene Full Name:	protocadherin-related 15
Band:	10q21.1
Quick Links	Entrez ID:65217; OMIM: 605514; Uniprot ID:PCD15_HUMAN; ENSEMBL ID: ENSG00000150275; HGNC ID: 14674
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>PCDH15|65217|nucleotide
ATGTTTCGACAGTTTTATCTCTGGACATGTTTAGCTTCAGGGATCATCCTGGGCTCTCTCTTTGAAATCTGCTTGGGCCAGTATGATGATGACTGGCAATATGAG
GATTGCAAACTAGCTAGGGGAGGACCACCAGCTACCATAGTTGCTATTGATGAAGAAAGTCGGAATGGTACAATTCTGGTGGACAACATGCTGATCAAAGGGACT
GCTGGAGGACCAGACCCCACCATAGAACTTTCTTTAAAGGATAATGTGGATTACTGGGTGTTGATGGATCCTGTTAAGCAAATGCTTTTCCTGAACAGCACCGGA
AGAGTTCTGGATAGAGATCCACCGATGAACATACACTCCATTGTGGTGCAGGTCCAGTGCATCAACAAAAAAGTGGGCACTATTATCTACCATGAAGTGCGAATA
GTGGTGAGAGACAGGAATGACAACTCACCCACTTTCAAGCATGAAAGCTACTATGCCACAGTGAATGAGCTCACTCCAGTTGGTACCACAATATTCACAGGATTT
TCAGGAGACAATGGAGCTACAGATATAGATGATGGACCAAATGGACAGATAGAGTATGTTATTCAGTATAATCCAGATGATCCGACATCCAATGACACCTTTGAA
ATTCCCCTAATGTTGACTGGAAATATAGTGTTAAGGAAGAGGCTCAACTATGAAGATAAGACTCGCTACTTTGTCATAATCCAAGCTAATGACCGTGCCCAAAAT
CTGAATGAGAGGCGAACCACCACCACCACTCTCACAGTGGATGTTCTGGATGGAGATGACTTGGGTCCAATGTTTCTTCCTTGTGTCCTTGTGCCAAACACTCGT
GATTGCCGTCCACTCACTTATCAAGCTGCCATACCTGAGTTGAGAACTCCGGAAGAACTGAACCCCATTATTGTTACGCCACCAATCCAAGCCATTGATCAGGAC
CGGAATATTCAACCGCCATCAGATAGGCCAGGAATCCTCTATTCCATCCTTGTTGGGACTCCTGAGGATTACCCACGATTTTTCCATATGCATCCTAGGACAGCA
GAACTTAGTCTCCTGGAGCCAGTAAACAGAGACTTTCACCAGAAATTTGATTTGGTTATTAAGGCTGAACAAGACAATGGTCATCCTCTTCCTGCCTTTGCCGGT
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>PCDH15|65217|protein
MFRQFYLWTCLASGIILGSLFEICLGQYDDDWQYEDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTG
RVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFE
IPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQD
RNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATIS
DSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYT
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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	1 (1)	1 (5)	0 (0)	0 (1)	0 (0)	0 (1)	0 (0)	0 (0)	1 (1)	16 (9)

Syndromic Autism Gene Top

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 1

Reference	Stage	Platform	#Families	Affecteds						Result
Reference	Stage	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
MIXED/OTHERS
Anney R, 2012_2	-	Illumina Infinium 1M-single SNP microarray; Illumina 1M-duo microarray	2705	- (-)			ASD	- -	- -

Case Control Based Association Studies: 0

Reference	Stage	Platform	ASD Cases						Normal Controls		Result
Reference	Stage	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
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
Sebat, 2007	USA	aCGH			autism	165	118	47	99	195	196	391
Pinto, 2010	-	SNP microarray, qPCR			ASD	-	-	-	-	996	1287	2283
Nord, 2011	US	aCGH	-	-	ASD	-	-	-	-	41	367	408
Sanders, 2011	Simons Simplex Collection	SNP microarray	-	-	ASD	1127	1127	-	-	-	-	-
Laplana M, 2014	-	aCGH			ASD	1	-	-	-	1	5	6

Linkage Studies Top

AutismKB 2.0

Evidence Details for PCDH15