Evidence Details for TXNDC5

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Basic Information Top

Gene Symbol:	TXNDC5 ( ERP46,EndoPDI,Hcc-2,MGC3178,PDIA15,UNQ364 )
Gene Full Name:	thioredoxin domain containing 5 (endoplasmic reticulum)
Band:	6p24.3
Quick Links	Entrez ID:81567; OMIM: NA; Uniprot ID:TXND5_HUMAN; ENSEMBL ID: ENSG00000188428,ENSG00000239264; HGNC ID: 21073
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>TXNDC5|81567|nucleotide
ATGGAAGATGCCAAAGTCTATGTGGCTAAAGTGGACTGCACGGCCCACTCCGACGTGTGCTCCGCCCAGGGGGTGCGAGGATACCCCACCTTAAAGCTTTTCAAG
CCAGGCCAAGAAGCTGTGAAGTACCAGGGTCCTCGGGACTTCCAGACACTGGAAAACTGGATGCTGCAGACACTGAACGAGGAGCCAGTGACACCAGAGCCGGAA
GTGGAACCGCCCAGTGCCCCCGAGCTCAAGCAAGGGCTGTATGAGCTCTCAGCAAGCAACTTTGAGCTGCACGTTGCACAAGGCGACCACTTTATCAAGTTCTTC
GCTCCGTGGTGTGGTCACTGCAAAGCCCTGGCTCCAACCTGGGAGCAGCTGGCTCTGGGCCTTGAACATTCCGAAACTGTCAAGATTGGCAAGGTTGATTGTACA
CAGCACTATGAACTCTGCTCCGGAAACCAGGTTCGTGGCTATCCCACTCTTCTCTGGTTCCGAGATGGGAAAAAGGTGGATCAGTACAAGGGAAAGCGGGATTTG
GAGTCACTGAGGGAGTACGTGGAGTCGCAGCTGCAGCGCACAGAGACTGGAGCGACGGAGACCGTCACGCCCTCAGAGGCCCCGGTGCTGGCAGCTGAGCCCGAG
GCTGACAAGGGCACTGTGTTGGCACTCACTGAAAATAACTTCGATGACACCATTGCAGAAGGAATAACCTTCATCAAGTTTTATGCTCCATGGTGTGGTCATTGT
AAGACTCTGGCTCCTACTTGGGAGGAACTCTCTAAAAAGGAATTCCCTGGTCTGGCGGGGGTCAAGATCGCCGAAGTAGACTGCACTGCTGAACGGAATATCTGC
AGCAAGTATTCGGTACGAGGCTACCCCACGTTATTGCTTTTCCGAGGAGGGAAGAAAGTCAGTGAGCACAGTGGAGGCAGAGACCTTGACTCGTTACACCGCTTT
GTCCTGAGCCAAGCGAAAGACGAACTTTAG

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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 (2)	0 (0)	0 (0)	2 (2)	0 (0)	0 (0)	0 (0)	0 (0)	8 (5)

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
Tao Y, 2016_2	replication	Illumina HumanHap550 BeadChip	2591	2588 (13.33%)			ASD	- from 1 to 108 years	- -

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
Szatmari, 2007	Europe, North America	SNP microarray			ASD	1491	-	-	-	-	-	0
Zwaag, 2009	-	SNP microarray			autism	-	-	-	-	105	267	372

Linkage Studies Top

AutismKB 2.0

Evidence Details for TXNDC5