Evidence Details for HOXA1

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Basic Information Top

Gene Symbol:	HOXA1 ( BSAS,HOX1,HOX1F,MGC45232 )
Gene Full Name:	homeobox A1
Band:	7p15.2
Quick Links	Entrez ID:3198; OMIM: 142955; Uniprot ID:HXA1_HUMAN; ENSEMBL ID: ENSG00000105991; HGNC ID: 5099
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>HOXA1|3198|nucleotide
ATGGACAATGCAAGAATGAACTCCTTCCTGGAATACCCCATACTTAGCAGTGGCGACTCGGGGACCTGCTCAGCCCGAGCCTACCCCTCGGACCATAGGATTACA
ACTTTCCAGTCGTGCGCGGTCAGCGCCAACAGTTGCGGCGGCGACGACCGCTTCCTAGTGGGCAGGGGGGTGCAGATCGGTTCGCCCCACCACCACCACCACCAC
CACCATCACCACCCCCAGCCGGCTACCTACCAGACTTCCGGGAACCTGGGGGTGTCCTACTCCCACTCAAGTTGTGGTCCAAGCTATGGCTCACAGAACTTCAGT
GCGCCTTACAGCCCCTACGCGTTAAATCAGGAAGCAGACGTAAGTGGTGGGTACCCCCAGTGCGCTCCCGCTGTTTACTCTGGAAATCTCTCATCTCCCATGGTC
CAGCATCACCACCACCACCAGGGTTATGCTGGGGGCGCGGTGGGCTCGCCTCAATACATTCACCACTCATATGGACAGGAGCACCAGAGCCTGGCCCTGGCTACG
TATAATAACTCCTTGTCCCCTCTCCACGCCAGCCACCAAGAAGCCTGTCGCTCCCCCGCATCGGAGACATCTTCTCCAGCGCAGACTTTTGACTGGATGAAAGTC
AAAAGAAACCCTCCCAAAACAGGGAAAGTTGGAGAGTACGGCTACCTGGGTCAACCCAACGCGGTGCGCACCAACTTCACTACCAAGCAGCTCACGGAACTGGAG
AAGGAGTTCCACTTCAACAAGTACCTGACGCGCGCCCGCAGGGTGGAGATCGCTGCATCCCTGCAGCTCAACGAGACCCAAGTGAAGATCTGGTTCCAGAACCGC
CGAATGAAGCAAAAGAAACGTGAGAAGGAGGGTCTCTTGCCCATCTCTCCGGCCACCCCGCCAGGAAACGACGAGAAGGCCGAGGAATCCTCAGAGAAGTCCAGC
TCTTCGCCCTGCGTTCCTTCCCCGGGGTCTTCTACCTCAGACACTCTGACTACCTCCCACTGA

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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)	Yes	0 (0)	0 (0)	0 (0)	2 (14)	0 (0)	0 (0)	0 (0)	0 (0)	1 (2)	14 (16)

Syndromic Autism Gene Top

Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.

Inheritance	AR
OMIM	Bosley-Salih-Alorainy syndrome (601536)
Description	HOXA1 syndrome, Bosley-Salih-Alorainy variant (horizontal gaze abnormalities, deafness, facial weakness, hypoventilation, cardiovascular malformations, ID and ASD); 2/9 patients meet criteria for autism
Reference(s)	17875913;
Level	Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.

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
Total	Simplex	Multiplex	Control	Affected	Control	Total
No matched CNVs !

Linkage Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family	Individual
Total	Simplex	Multiplex	Control	Affected	Control	Total
No Matched Linkage Regions !

Low Scale Association Studies (by Ethnic Group) Top

Family Based Association Studies: 7

Reference	Source	Platform	#Families	Affecteds						Result
Reference	Source	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Li, 2002_1	Unknown	ABI sequece software Genescan 2.01	110	- (-)			AD	- -	- -
Collins, 2003_1	USA	-	383	133 (23.31%)			ASD	- (5-21)	- -
Romano, 2003_1	Italy	PCR	85	89 (13.48%)			AD	10.44±5.68 -	- -
Luise Gallagher, 2004_1	Ireland(mixed)	Not mentioned	78	- (-)			ASD	- -	- -
Conciatori, 2004_1	Italy, AGRE	ABI373A automated sequencer,WAVE 3500 system	201	228 (11.84%)			ASD	- -	- -
ASIAN
Sen, 2007_1	India	-	-	80 (-)			AD	- -	- -
AFRICAN
Collins, 2003_2	USA	-	144	65 (15.38%)			ASD	- (5-21)	- -

Case Control Based Association Studies: 7

Reference	Source	Platfrom	ASD Cases					Normal Controls		Result
Reference	Source	Platfrom	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
CAUCASIAN
Talebizadeh, 2002_1	USA	ABI 373 Sequencer			ASD	9.5 (1.7-37.3)	66	35 (22.86%)	- -
Collins, 2003_1	USA	-			ASD	- (5-21)	-	132 (46.97%)	- -
Romano, 2003_1	Italy	-			AD	- -	-	132 (-)	- -
Conciatori, 2004_1	Italy	ABI373A automated sequencer,WAVE 3500 system			ASD	7.36±4.78 (3-33)	-	174 (47.70%)	52.6±19.4 (17-92)
Muscarella, 2007_2	Italy	-	-	-	ASD	7.2±2.6 (3-16)	-	183 (-)	35.2±8.8 (18-51)
Muscarella, 2007_1	Italy	-	-	-	ASD	7.2±2.6 (3-16)	-	142 (-)	9.4±3.3 (3-16)
AFRICAN
Collins, 2003_2	USA	-			ASD	- (5-21)	-	127 (45.67%)	- -

Large Scale Expression Studies Top

Reference	Source	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
No Evidence.

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
No matched NGS de novo Mutation Studies!

NGS Mosaic SNV Studies Top

Reference	Case Number	Family Number	Mosaic Number	Title
No matched NGS Mosaic SNVs!

NGS Other Studies Top

Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Family	Affected	Validation Method
Total	Simplex	Multiplex
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 HOXA1

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics