Evidence Details for SHOX

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Basic Information Top

Gene Symbol:	SHOX ( GCFX,PHOG,SHOXY,SS )
Gene Full Name:	short stature homeobox
Band:	Xp22.33 and Yp11.32
Quick Links	Entrez ID:6473; OMIM: 312865,400020; Uniprot ID:SHOX_HUMAN; ENSEMBL ID: ENSG00000185960; HGNC ID: 10853
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>SHOX|6473|nucleotide
ATGGAAGAGCTCACGGCTTTTGTATCCAAGTCTTTTGACCAGAAAAGCAAGGACGGTAACGGCGGAGGCGGAGGCGGCGGAGGTAAGAAGGATTCCATTACGTAC
CGGGAAGTTTTGGAGAGCGGACTGGCGCGCTCCCGGGAGCTGGGGACGTCGGATTCCAGCCTCCAGGACATCACGGAGGGCGGCGGCCACTGCCCGGTGCATTTG
TTCAAGGACCACGTAGACAATGACAAGGAGAAACTGAAAGAATTCGGCACCGCGAGAGTGGCAGAAGGGATTTATGAATGCAAAGAGAAGCGCGAGGACGTGAAG
TCGGAGGACGAGGACGGGCAGACCAAGCTGAAACAGAGGCGCAGCCGCACCAACTTCACGCTGGAGCAGCTGAACGAGCTCGAGCGACTCTTCGACGAGACCCAT
TACCCCGACGCCTTCATGCGCGAGGAGCTCAGCCAGCGCCTGGGGCTCTCCGAGGCGCGCGTGCAGGTTTGGTTCCAGAACCGGAGAGCCAAGTGCCGCAAACAA
GAGAATCAGATGCATAAAGGCGTCATCTTGGGCACAGCCAACCACCTAGACGCCTGCCGAGTGGCACCCTACGTCAACATGGGAGCCTTACGGATGCCTTTCCAA
CAGGTCCAGGCTCAGCTGCAGCTGGAAGGCGTGGCCCACGCGCACCCGCACCTGCACCCGCACCTGGCGGCGCACGCGCCCTACCTGATGTTCCCCCCGCCGCCC
TTCGGGCTGCCCATCGCGTCGCTGGCCGAGTCCGCCTCGGCCGCCGCCGTGGTCGCCGCCGCCGCCAAAAGCAACAGCAAGAATTCCAGCATCGCCGACCTGCGG
CTCAAGGCGCGGAAGCACGCGGAGGCCCTGGGGCTCTGA

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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)	1 (5)	0 (0)	0 (0)	0 (0)	0 (0)	0 (0)	0 (0)	0 (0)	2 (5)

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
Marshall, 2008	-	SNP microarray			ASD	427	238	189	-	427	500	927
Sanders, 2011	Simons Simplex Collection	SNP microarray	-	-	ASD	1127	1127	-	-	-	-	-
Edens, 2011	Honduras	aCGH			autism	-	-	-	-	1	-	1
Edens, 2011	Austria	FISH, aCGH			autism	-	-	-	-	1	-	1
Laplana M, 2014	-	aCGH			ASD	1	-	-	-	1	5	6
Alvarez-Mora MI, 2016	-	Microarray			ASD	-	-	-	-	44	-	-

Linkage Studies Top

AutismKB 2.0

Evidence Details for SHOX