Evidence Details for HOXD1
Basic Information Top
| Gene Symbol: | HOXD1 ( HOX4,HOX4G,Hox-4.7 ) |
|---|---|
| Gene Full Name: | homeobox D1 |
| Band: | 2q31.1 |
| Quick Links | Entrez ID:3231; OMIM: 142987; Uniprot ID:HXD1_HUMAN; ENSEMBL ID: ENSG00000128645; HGNC ID: 5132 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>HOXD1|3231|nucleotide
ATGAGCTCCTACCTGGAGTACGTGTCATGCAGCAGCAGCGGCGGGGTCGGCGGCGACGTGCTCAGCTTGGCACCCAAGTTCTGCCGCTCCGACGCCCGGCCCGTG
GCTCTGCAGCCCGCCTTCCCTCTGGGCAACGGCGACGGCGCCTTCGTCAGCTGTCTGCCCCTGGCCGCCGCCCGACCCTCGCCTTCGCCCCCGGCCGCCCCCGCG
CGGCCGTCCGTACCGCCTCCGGCCGCGCCCCAGTACGCGCAGTGCACCCTGGAGGGGGCCTACGAACCTGGTGCCGCACCTGCCGCGGCAGCTGGGGGCGCGGAC
TACGGCTTCCTGGGGTCCGGGCCGGCGTACGACTTCCCGGGCGTGCTGGGGCGGGCGGCCGACGACGGCGGGTCTCACGTCCACTACGCCACCTCGGCCGTCTTC
TCGGGCGGCGGCTCTTTCCTCCTCAGCGGCCAGGTGGATTACGCGGCCTTCGGCGAACCCGGCCCTTTTCCGGCTTGTCTCAAAGCGTCAGCCGACGGCCACCCT
GGTGCTTTCCAGACCGCATCCCCGGCCCCAGGCACCTACCCCAAGTCCGTCTCTCCCGCCTCCGGCCTCCCTGCCGCCTTCAGCACGTTCGAGTGGATGAAAGTG
AAGAGGAATGCCTCTAAGAAAGGTAAACTCGCCGAGTATGGGGCCGCTAGCCCCTCCAGCGCGATCCGCACGAATTTCAGCACCAAGCAACTGACAGAACTGGAA
AAAGAGTTTCATTTCAATAAGTACTTAACTCGAGCCCGGCGCATCGAGATAGCCAACTGCTTGCACCTGAATGACACGCAAGTCAAAATCTGGTTCCAGAACCGC
AGGATGAAACAGAAGAAAAGGGAACGAGAAGGGCTTCTGGCCACGGCCATTCCTGTGGCTCCCCTCCAACTTCCCCTCTCTGGAACAACCCCCACTAAGTTTATC
AAGAACCCCGGCAGCCCTTCTCAGTCCCAAGAGCCTTCGTGA
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ATGAGCTCCTACCTGGAGTACGTGTCATGCAGCAGCAGCGGCGGGGTCGGCGGCGACGTGCTCAGCTTGGCACCCAAGTTCTGCCGCTCCGACGCCCGGCCCGTG
GCTCTGCAGCCCGCCTTCCCTCTGGGCAACGGCGACGGCGCCTTCGTCAGCTGTCTGCCCCTGGCCGCCGCCCGACCCTCGCCTTCGCCCCCGGCCGCCCCCGCG
CGGCCGTCCGTACCGCCTCCGGCCGCGCCCCAGTACGCGCAGTGCACCCTGGAGGGGGCCTACGAACCTGGTGCCGCACCTGCCGCGGCAGCTGGGGGCGCGGAC
TACGGCTTCCTGGGGTCCGGGCCGGCGTACGACTTCCCGGGCGTGCTGGGGCGGGCGGCCGACGACGGCGGGTCTCACGTCCACTACGCCACCTCGGCCGTCTTC
TCGGGCGGCGGCTCTTTCCTCCTCAGCGGCCAGGTGGATTACGCGGCCTTCGGCGAACCCGGCCCTTTTCCGGCTTGTCTCAAAGCGTCAGCCGACGGCCACCCT
GGTGCTTTCCAGACCGCATCCCCGGCCCCAGGCACCTACCCCAAGTCCGTCTCTCCCGCCTCCGGCCTCCCTGCCGCCTTCAGCACGTTCGAGTGGATGAAAGTG
AAGAGGAATGCCTCTAAGAAAGGTAAACTCGCCGAGTATGGGGCCGCTAGCCCCTCCAGCGCGATCCGCACGAATTTCAGCACCAAGCAACTGACAGAACTGGAA
AAAGAGTTTCATTTCAATAAGTACTTAACTCGAGCCCGGCGCATCGAGATAGCCAACTGCTTGCACCTGAATGACACGCAAGTCAAAATCTGGTTCCAGAACCGC
AGGATGAAACAGAAGAAAAGGGAACGAGAAGGGCTTCTGGCCACGGCCATTCCTGTGGCTCCCCTCCAACTTCCCCTCTCTGGAACAACCCCCACTAAGTTTATC
AAGAACCCCGGCAGCCCTTCTCAGTCCCAAGAGCCTTCGTGA
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>HOXD1|3231|protein
MSSYLEYVSCSSSGGVGGDVLSLAPKFCRSDARPVALQPAFPLGNGDGAFVSCLPLAAARPSPSPPAAPARPSVPPPAAPQYAQCTLEGAYEPGAAPAAAAGGAD
YGFLGSGPAYDFPGVLGRAADDGGSHVHYATSAVFSGGGSFLLSGQVDYAAFGEPGPFPACLKASADGHPGAFQTASPAPGTYPKSVSPASGLPAAFSTFEWMKV
KRNASKKGKLAEYGAASPSSAIRTNFSTKQLTELEKEFHFNKYLTRARRIEIANCLHLNDTQVKIWFQNRRMKQKKREREGLLATAIPVAPLQLPLSGTTPTKFI
KNPGSPSQSQEPS
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MSSYLEYVSCSSSGGVGGDVLSLAPKFCRSDARPVALQPAFPLGNGDGAFVSCLPLAAARPSPSPPAAPARPSVPPPAAPQYAQCTLEGAYEPGAAPAAAAGGAD
YGFLGSGPAYDFPGVLGRAADDGGSHVHYATSAVFSGGGSFLLSGQVDYAAFGEPGPFPACLKASADGHPGAFQTASPAPGTYPKSVSPASGLPAAFSTFEWMKV
KRNASKKGKLAEYGAASPSSAIRTNFSTKQLTELEKEFHFNKYLTRARRIEIANCLHLNDTQVKIWFQNRRMKQKKREREGLLATAIPVAPLQLPLSGTTPTKFI
KNPGSPSQSQEPS
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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) | No | 0 (0) | 0 (0) | 2 (4) | 1 (3) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 6 (8) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Monaco, 2001 | - | microsatellite-based genomic screen |  | | PDD | 152 | - | 152 | - | - | - | - |
| Buxbaum, 2001 | USA | microsatellite-based genomic screen | |  | autism, PDD, Asperger syndrome | 35 | - | 35 | - | - | - | - |
| Lamb, 2005 | - | microsatellite-based genomic screen | | | autism | 207 | - | 207 | - | 420 | - | - |
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | | | autism | - | - | - | - | 12 | 44 | 56 |
Low Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 3
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Bacchelli, 2003_2 | IMGSAC | DHPLC | 96 | - (-) | | | ASD | - - |
- - | |
| Bacchelli, 2003_1 | UK (IMGSAC) | DHPLC | 164 | - (-) | | | ASD | - - |
- - | |
| Rabionet, 2004_1 | CAT, AGRE | TaqMan Method | 406 | - (-) | | | ASD | - - |
- - | |
Case Control Based Association Studies: 0
| 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 TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact 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.