Evidence Details for HOXA1
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>HOXA1|3198|nucleotide
ATGGACAATGCAAGAATGAACTCCTTCCTGGAATACCCCATACTTAGCAGTGGCGACTCGGGGACCTGCTCAGCCCGAGCCTACCCCTCGGACCATAGGATTACA
ACTTTCCAGTCGTGCGCGGTCAGCGCCAACAGTTGCGGCGGCGACGACCGCTTCCTAGTGGGCAGGGGGGTGCAGATCGGTTCGCCCCACCACCACCACCACCAC
CACCATCACCACCCCCAGCCGGCTACCTACCAGACTTCCGGGAACCTGGGGGTGTCCTACTCCCACTCAAGTTGTGGTCCAAGCTATGGCTCACAGAACTTCAGT
GCGCCTTACAGCCCCTACGCGTTAAATCAGGAAGCAGACGTAAGTGGTGGGTACCCCCAGTGCGCTCCCGCTGTTTACTCTGGAAATCTCTCATCTCCCATGGTC
CAGCATCACCACCACCACCAGGGTTATGCTGGGGGCGCGGTGGGCTCGCCTCAATACATTCACCACTCATATGGACAGGAGCACCAGAGCCTGGCCCTGGCTACG
TATAATAACTCCTTGTCCCCTCTCCACGCCAGCCACCAAGAAGCCTGTCGCTCCCCCGCATCGGAGACATCTTCTCCAGCGCAGACTTTTGACTGGATGAAAGTC
AAAAGAAACCCTCCCAAAACAGGGAAAGTTGGAGAGTACGGCTACCTGGGTCAACCCAACGCGGTGCGCACCAACTTCACTACCAAGCAGCTCACGGAACTGGAG
AAGGAGTTCCACTTCAACAAGTACCTGACGCGCGCCCGCAGGGTGGAGATCGCTGCATCCCTGCAGCTCAACGAGACCCAAGTGAAGATCTGGTTCCAGAACCGC
CGAATGAAGCAAAAGAAACGTGAGAAGGAGGGTCTCTTGCCCATCTCTCCGGCCACCCCGCCAGGAAACGACGAGAAGGCCGAGGAATCCTCAGAGAAGTCCAGC
TCTTCGCCCTGCGTTCCTTCCCCGGGGTCTTCTACCTCAGACACTCTGACTACCTCCCACTGA
Show »
ATGGACAATGCAAGAATGAACTCCTTCCTGGAATACCCCATACTTAGCAGTGGCGACTCGGGGACCTGCTCAGCCCGAGCCTACCCCTCGGACCATAGGATTACA
ACTTTCCAGTCGTGCGCGGTCAGCGCCAACAGTTGCGGCGGCGACGACCGCTTCCTAGTGGGCAGGGGGGTGCAGATCGGTTCGCCCCACCACCACCACCACCAC
CACCATCACCACCCCCAGCCGGCTACCTACCAGACTTCCGGGAACCTGGGGGTGTCCTACTCCCACTCAAGTTGTGGTCCAAGCTATGGCTCACAGAACTTCAGT
GCGCCTTACAGCCCCTACGCGTTAAATCAGGAAGCAGACGTAAGTGGTGGGTACCCCCAGTGCGCTCCCGCTGTTTACTCTGGAAATCTCTCATCTCCCATGGTC
CAGCATCACCACCACCACCAGGGTTATGCTGGGGGCGCGGTGGGCTCGCCTCAATACATTCACCACTCATATGGACAGGAGCACCAGAGCCTGGCCCTGGCTACG
TATAATAACTCCTTGTCCCCTCTCCACGCCAGCCACCAAGAAGCCTGTCGCTCCCCCGCATCGGAGACATCTTCTCCAGCGCAGACTTTTGACTGGATGAAAGTC
AAAAGAAACCCTCCCAAAACAGGGAAAGTTGGAGAGTACGGCTACCTGGGTCAACCCAACGCGGTGCGCACCAACTTCACTACCAAGCAGCTCACGGAACTGGAG
AAGGAGTTCCACTTCAACAAGTACCTGACGCGCGCCCGCAGGGTGGAGATCGCTGCATCCCTGCAGCTCAACGAGACCCAAGTGAAGATCTGGTTCCAGAACCGC
CGAATGAAGCAAAAGAAACGTGAGAAGGAGGGTCTCTTGCCCATCTCTCCGGCCACCCCGCCAGGAAACGACGAGAAGGCCGAGGAATCCTCAGAGAAGTCCAGC
TCTTCGCCCTGCGTTCCTTCCCCGGGGTCTTCTACCTCAGACACTCTGACTACCTCCCACTGA
Show »
>HOXA1|3198|protein
MDNARMNSFLEYPILSSGDSGTCSARAYPSDHRITTFQSCAVSANSCGGDDRFLVGRGVQIGSPHHHHHHHHHHPQPATYQTSGNLGVSYSHSSCGPSYGSQNFS
APYSPYALNQEADVSGGYPQCAPAVYSGNLSSPMVQHHHHHQGYAGGAVGSPQYIHHSYGQEHQSLALATYNNSLSPLHASHQEACRSPASETSSPAQTFDWMKV
KRNPPKTGKVGEYGYLGQPNAVRTNFTTKQLTELEKEFHFNKYLTRARRVEIAASLQLNETQVKIWFQNRRMKQKKREKEGLLPISPATPPGNDEKAEESSEKSS
SSPCVPSPGSSTSDTLTTSH
Show »
MDNARMNSFLEYPILSSGDSGTCSARAYPSDHRITTFQSCAVSANSCGGDDRFLVGRGVQIGSPHHHHHHHHHHPQPATYQTSGNLGVSYSHSSCGPSYGSQNFS
APYSPYALNQEADVSGGYPQCAPAVYSGNLSSPMVQHHHHHQGYAGGAVGSPQYIHHSYGQEHQSLALATYNNSLSPLHASHQEACRSPASETSSPAQTFDWMKV
KRNPPKTGKVGEYGYLGQPNAVRTNFTTKQLTELEKEFHFNKYLTRARRVEIAASLQLNETQVKIWFQNRRMKQKKREKEGLLPISPATPPGNDEKAEESSEKSS
SSPCVPSPGSSTSDTLTTSH
Show »
Evidence summary TopClick 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 TopAbbreviations: 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) TopCNV Studies TopLinkage Studies Top