Evidence Details for PLD5

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Basic Information Top

Gene Symbol:	PLD5 ( FLJ40773,MGC120565,MGC120566,MGC120567,PLDC )
Gene Full Name:	phospholipase D family, member 5
Band:	1q43
Quick Links	Entrez ID:200150; OMIM: NA; Uniprot ID:PLD5_HUMAN; ENSEMBL ID: ENSG00000180287; HGNC ID: 26879
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>PLD5|200150|nucleotide
ATGTCCCAGCAGAAGTGCATCGTGATCTTTGCCCTGGTGTGCTGCTTTGCCATTCTGGTTGCACTGATCTTTTCAGCCGTGGACATCATGGGAGAGGATGAGGAT
GGACTCTCAGAAAAAAATTGCCAAAATAAATGTCGAATTGCCCTGGTGGAAAATATTCCTGAAGGCCTTAACTATTCAGAAAATGCACCATTTCACTTATCACTT
TTCCAAGGCTGGATGAATTTACTCAACATGGCCAAAAAGTCTGTTGACATAGTGTCTTCCCATTGGGATCTCAACCACACTCATCCATCAGCATGTCAGGGTCAA
CGTCTTTTTGAAAAGTTGCTCCAGCTGACTTCGCAAAATATTGAAATCAAGCTAGTGAGTGATGTAACAGCTGATTCAAAGGTATTAGAAGCCTTGAAATTAAAG
GGAGCCGAGGTGACGTACATGAACATGACCGCTTACAACAAGGGCCGGCTGCAGTCCTCCTTCTGGATCGTGGACAAACAGCACGTGTATATCGGCAGTGCCGGT
TTGGACTGGCAATCCCTGGGACAGATGAAAGAACTCGGTGTCATCTTCTACAACTGCAGCTGCCTGGTCCTAGATTTACAAAGGATATTTGCTCTATATAGTTCA
TTAAAATTCAAAAGCAGAGTGCCTCAAACCTGGTCCAAAAGACTCTATGGAGTCTATGACAATGAAAAGAAATTGCAACTTCAGTTGAATGAAACCAAATCTCAA
GCATTTGTATCGAATTCTCCAAAACTCTTTTGCCCTAAAAACAGAAGTTTTGACATAGATGCCATCTACAGTGTGATAGATGATGCCAAGCAGTATGTGTACATC
GCTGTCATGGACTACCTGCCTATCTCCAGCACAAGCACCAAAAGGACTTACTGGCCAGACTTGGATGCAAAAATAAGAGAAGCATTAGTTTTACGAAGCGTTAGA
GTTCGACTCCTTTTAAGCTTCTGGAAGGAAACTGATCCCCTTACGTTTAACTTTATTTCATCTCTTAAAGCGATTTGCACTGAAATAGCCAACTGCAGTTTGAAA
GTTAAATTTTTTGATCTGGAAAGAGAGAATGCTTGTGCTACAAAAGAACAAAAGAATCACACCTTTCCTAGGTTAAATCGCAACAAGTACATGGTGACAGATGGA
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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 (2)	0 (3)	1 (1)	0 (0)	0 (0)	0 (1)	0 (1)	0 (0)	0 (0)	6 (8)

Syndromic Autism Gene Top

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 2

Reference	Stage	Platform	#Families	Affecteds						Result
Reference	Stage	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Anney, 2010_4	Replication	Illumina Human 1M-single Infinium BeadChip	476	702 (-)			ASD	- -	- -
Anney, 2010_3	Discovery	Illumina Human 1M-single Infinium BeadChip	897	909 (-)			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
Pinto, 2010	-	SNP microarray, qPCR			ASD	-	-	-	-	996	1287	2283
Levy, 2011	Simons Simplex Collection	aCGH	-	-	ASD	915	915	-	-	-	-	-
Sanders, 2011	Simons Simplex Collection	SNP microarray	-	-	ASD	1127	1127	-	-	-	-	-

Linkage Studies Top

AutismKB 2.0

Evidence Details for PLD5