Evidence Details for PLOD3

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Basic Information Top

Gene Symbol:	PLOD3 ( LH3 )
Gene Full Name:	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
Band:	7q22.1
Quick Links	Entrez ID:8985; OMIM: 603066; Uniprot ID:PLOD3_HUMAN; ENSEMBL ID: ENSG00000106397; HGNC ID: 9083
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>PLOD3|8985|nucleotide
ATGACCTCCTCGGGGCCTGGACCCCGGTTCCTGCTGCTGCTGCCGCTGCTGCTGCCCCCTGCGGCCTCAGCCTCCGACCGGCCCCGGGGCCGAGACCCGGTCAAC
CCAGAGAAGCTGCTGGTGATCACTGTGGCCACAGCTGAAACCGAGGGGTACCTGCGTTTCCTGCGCTCTGCGGAGTTCTTCAACTACACTGTGCGGACCCTGGGC
CTGGGAGAGGAGTGGCGAGGGGGTGATGTGGCTCGAACAGTTGGTGGAGGACAGAAGGTCCGGTGGTTAAAGAAGGAAATGGAGAAATACGCTGACCGGGAGGAT
ATGATCATCATGTTTGTGGATAGCTACGACGTGATTCTGGCCGGCAGCCCCACAGAGCTGCTGAAGAAGTTCGTCCAGAGTGGCAGCCGCCTGCTCTTCTCTGCA
GAGAGCTTCTGCTGGCCCGAGTGGGGGCTGGCGGAGCAGTACCCTGAGGTGGGCACGGGGAAGCGCTTCCTCAATTCTGGTGGATTCATCGGTTTTGCCACCACC
ATCCACCAAATCGTGCGCCAGTGGAAGTACAAGGATGATGACGACGACCAGCTGTTCTACACACGGCTCTACCTGGACCCAGGACTGAGGGAGAAACTCAGCCTT
AATCTGGATCATAAGTCTCGGATCTTTCAGAACCTCAACGGGGCTTTAGATGAAGTGGTTTTAAAGTTTGATCGGAACCGTGTGCGTATCCGGAACGTGGCCTAC
GACACGCTCCCCATTGTGGTCCATGGAAACGGTCCCACTAAGCTGCAGCTCAACTACCTGGGAAACTACGTCCCCAATGGCTGGACTCCTGAGGGAGGCTGTGGC
TTCTGCAACCAGGACCGGAGGACACTCCCGGGGGGGCAGCCTCCCCCCCGGGTGTTTCTGGCCGTGTTTGTGGAACAGCCTACTCCGTTTCTGCCCCGCTTCCTG
CAGCGGCTGCTACTCCTGGACTATCCCCCCGACAGGGTCACCCTTTTCCTGCACAACAACGAGGTCTTCCATGAACCCCACATCGCTGACTCCTGGCCGCAGCTC
CAGGACCACTTCTCAGCTGTGAAGCTCGTGGGGCCGGAGGAGGCTCTGAGCCCAGGCGAGGCCAGGGACATGGCCATGGACCTGTGTCGGCAGGACCCCGAGTGT
GAGTTCTACTTCAGCCTGGACGCCGACGCTGTCCTCACCAACCTGCAGACCCTGCGTATCCTCATTGAGGAGAACAGGAAGGTGATCGCCCCCATGCTGTCCCGC
CACGGCAAGCTGTGGTCCAACTTCTGGGGCGCCCTGAGCCCCGATGAGTACTACGCCCGCTCCGAGGACTACGTGGAGCTGGTGCAGCGGAAGCGAGTGGGTGTG
TGGAATGTACCATACATCTCCCAGGCCTATGTGATCCGGGGTGATACCCTGCGGATGGAGCTGCCCCAGAGGGATGTGTTCTCGGGCAGTGACACAGACCCGGAC
ATGGCCTTCTGTAAGAGCTTTCGAGACAAGGGCATCTTCCTCCATCTGAGCAATCAGCATGAATTTGGCCGGCTCCTGGCCACTTCCAGATACGACACGGAGCAC
CTGCACCCCGACCTCTGGCAGATCTTCGACAACCCCGTCGACTGGAAGGAGCAGTACATCCACGAGAACTACAGCCGGGCCCTGGAAGGGGAAGGAATCGTGGAG
CAGCCATGCCCGGACGTGTACTGGTTCCCACTGCTGTCAGAACAAATGTGTGATGAGCTGGTGGCAGAGATGGAGCACTACGGCCAGTGGTCAGGCGGCCGGCAT
GAGGATTCAAGGCTGGCTGGAGGCTACGAGAATGTGCCCACCGTGGACATCCACATGAAGCAGGTGGGGTACGAGGACCAGTGGCTGCAGCTGCTGCGGACGTAT
GTGGGCCCCATGACCGAGAGCCTGTTTCCCGGTTACCACACCAAGGCGCGGGCGGTGATGAACTTTGTGGTTCGCTACCGGCCAGACGAGCAGCCGTCTCTGCGG
CCACACCACGACTCATCCACCTTCACCCTCAACGTTGCCCTCAACCACAAGGGCCTGGACTATGAGGGAGGTGGCTGCCGCTTCCTGCGCTACGACTGTGTGATC
TCCTCCCCGAGGAAGGGCTGGGCACTCCTGCACCCCGGCCGCCTCACCCACTACCACGAGGGGCTGCCAACGACCTGGGGCACACGCTACATCATGGTGTCCTTT
GTCGACCCCTGA
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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	0 (0)	0 (0)	1 (1)	0 (0)	1 (1)	0 (2)	0 (2)	0 (0)	0 (0)	3 (6)

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
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Monaco, 2001	-	microsatellite-based genomic screen			PDD	152	-	152	-	-	-	-

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
Voineagu, 2011_1	Unknown	16 frontal cortex(BA9) and 13 temporal cortex(BA41	16 (25.00%)			-	autism	16 (6.25%)	1.33746	Up	0.239001
Platform: Illumina Ref8 v3 microarrays ProbeSet: ILMN_1774836 RefSeq_ID/ EST: - GEO_ID: GSE28521 Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.

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
Sanders SJ, 2012	-	238	172	De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
Iossifov I, 2014	2508	-	1194	The contribution of de novo coding mutations to autism spectrum disorder.

NGS Mosaic SNV Studies Top

Reference	Case Number	Family Number	Mosaic Number	Title
Lim ET, 2017	-	5947	376	Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Freed D, 2016	-	2388	5	The Contribution of Mosaic Variants to Autism Spectrum Disorder.

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 PLOD3

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics