Evidence Details for ANK1
Basic Information Top
Gene Symbol: | ANK1 ( ANK,SPH1,SPH2 ) |
---|---|
Gene Full Name: | ankyrin 1, erythrocytic |
Band: | 8p11.21 |
Quick Links | Entrez ID:286; OMIM: 612641; Uniprot ID:ANK1_HUMAN; ENSEMBL ID: ENSG00000029534; HGNC ID: 492 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ANK1|286|nucleotide
ATGCCCTATTCTGTGGGCTTCCGCGAAGCCGATGCTGCTACCAGCTTTCTGAGAGCAGCAAGATCAGGTAACTTGGACAAAGCTTTGGATCACCTGCGGAATGGG
GTAGATATTAACACCTGTAACCAGAATGGGTTGAATGGCTTGCATCTGGCTTCTAAGGAAGGCCATGTGAAAATGGTGGTTGAACTTCTGCACAAAGAAATCATT
CTAGAAACGACAACCAAGAAGGGGAACACGGCCCTGCACATCGCTGCTCTAGCCGGGCAGGATGAGGTGGTCCGGGAGCTTGTCAACTATGGAGCCAACGTCAAC
GCCCAGTCACAGAAAGGTTTTACACCCCTGTACATGGCAGCACAAGAGAACCACTTGGAAGTGGTTAAGTTTTTACTGGAAAATGGAGCTAACCAGAATGTAGCC
ACAGAAGACGGCTTCACGCCTCTGGCGGTAGCCCTGCAGCAGGGCCATGAGAACGTCGTCGCGCACCTCATCAACTACGGCACCAAGGGGAAGGTGCGCCTCCCG
GCCCTGCACATCGCGGCCCGCAACGACGACACGCGCACGGCTGCGGTGCTGCTGCAGAACGACCCCAACCCGGACGTGCTTTCCAAGACGGGATTCACGCCCCTG
CACATTGCGGCTCACTACGAGAACCTCAACGTGGCCCAGTTGCTCCTCAACAGAGGAGCCAGCGTCAATTTCACACCACAGAACGGCATCACGCCACTGCACATC
GCCTCCCGCAGGGGCAACGTGATCATGGTGCGGCTGCTGCTGGATCGGGGAGCCCAGATAGAAACCAAGACCAAGGACGAATTGACACCTCTCCACTGTGCAGCT
CGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGAACGGCCTGTCCCCAATTCACATGGCGGCTCAGGGA
GACCACCTCGACTGTGTCCGGCTCCTGTTGCAATACGACGCAGAGATAGACGACATCACCCTGGACCACCTGACCCCACTCCACGTGGCTGCCCACTGTGGACAC
CACAGGGTGGCTAAGGTCCTTCTGGATAAAGGGGCCAAACCCAACTCCAGAGCCCTGAATGGCTTTACCCCCTTACACATCGCCTGCAAAAAGAACCACGTCCGT
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ATGCCCTATTCTGTGGGCTTCCGCGAAGCCGATGCTGCTACCAGCTTTCTGAGAGCAGCAAGATCAGGTAACTTGGACAAAGCTTTGGATCACCTGCGGAATGGG
GTAGATATTAACACCTGTAACCAGAATGGGTTGAATGGCTTGCATCTGGCTTCTAAGGAAGGCCATGTGAAAATGGTGGTTGAACTTCTGCACAAAGAAATCATT
CTAGAAACGACAACCAAGAAGGGGAACACGGCCCTGCACATCGCTGCTCTAGCCGGGCAGGATGAGGTGGTCCGGGAGCTTGTCAACTATGGAGCCAACGTCAAC
GCCCAGTCACAGAAAGGTTTTACACCCCTGTACATGGCAGCACAAGAGAACCACTTGGAAGTGGTTAAGTTTTTACTGGAAAATGGAGCTAACCAGAATGTAGCC
ACAGAAGACGGCTTCACGCCTCTGGCGGTAGCCCTGCAGCAGGGCCATGAGAACGTCGTCGCGCACCTCATCAACTACGGCACCAAGGGGAAGGTGCGCCTCCCG
GCCCTGCACATCGCGGCCCGCAACGACGACACGCGCACGGCTGCGGTGCTGCTGCAGAACGACCCCAACCCGGACGTGCTTTCCAAGACGGGATTCACGCCCCTG
CACATTGCGGCTCACTACGAGAACCTCAACGTGGCCCAGTTGCTCCTCAACAGAGGAGCCAGCGTCAATTTCACACCACAGAACGGCATCACGCCACTGCACATC
GCCTCCCGCAGGGGCAACGTGATCATGGTGCGGCTGCTGCTGGATCGGGGAGCCCAGATAGAAACCAAGACCAAGGACGAATTGACACCTCTCCACTGTGCAGCT
CGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGAACGGCCTGTCCCCAATTCACATGGCGGCTCAGGGA
GACCACCTCGACTGTGTCCGGCTCCTGTTGCAATACGACGCAGAGATAGACGACATCACCCTGGACCACCTGACCCCACTCCACGTGGCTGCCCACTGTGGACAC
CACAGGGTGGCTAAGGTCCTTCTGGATAAAGGGGCCAAACCCAACTCCAGAGCCCTGAATGGCTTTACCCCCTTACACATCGCCTGCAAAAAGAACCACGTCCGT
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>ANK1|286|protein
MPYSVGFREADAATSFLRAARSGNLDKALDHLRNGVDINTCNQNGLNGLHLASKEGHVKMVVELLHKEIILETTTKKGNTALHIAALAGQDEVVRELVNYGANVN
AQSQKGFTPLYMAAQENHLEVVKFLLENGANQNVATEDGFTPLAVALQQGHENVVAHLINYGTKGKVRLPALHIAARNDDTRTAAVLLQNDPNPDVLSKTGFTPL
HIAAHYENLNVAQLLLNRGASVNFTPQNGITPLHIASRRGNVIMVRLLLDRGAQIETKTKDELTPLHCAARNGHVRISEILLDHGAPIQAKTKNGLSPIHMAAQG
DHLDCVRLLLQYDAEIDDITLDHLTPLHVAAHCGHHRVAKVLLDKGAKPNSRALNGFTPLHIACKKNHVRVMELLLKTGASIDAVTESGLTPLHVASFMGHLPIV
KNLLQRGASPNVSNVKVETPLHMAARAGHTEVAKYLLQNKAKVNAKAKDDQTPLHCAARIGHTNMVKLLLENNANPNLATTAGHTPLHIAAREGHVETVLALLEK
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MPYSVGFREADAATSFLRAARSGNLDKALDHLRNGVDINTCNQNGLNGLHLASKEGHVKMVVELLHKEIILETTTKKGNTALHIAALAGQDEVVRELVNYGANVN
AQSQKGFTPLYMAAQENHLEVVKFLLENGANQNVATEDGFTPLAVALQQGHENVVAHLINYGTKGKVRLPALHIAARNDDTRTAAVLLQNDPNPDVLSKTGFTPL
HIAAHYENLNVAQLLLNRGASVNFTPQNGITPLHIASRRGNVIMVRLLLDRGAQIETKTKDELTPLHCAARNGHVRISEILLDHGAPIQAKTKNGLSPIHMAAQG
DHLDCVRLLLQYDAEIDDITLDHLTPLHVAAHCGHHRVAKVLLDKGAKPNSRALNGFTPLHIACKKNHVRVMELLLKTGASIDAVTESGLTPLHVASFMGHLPIV
KNLLQRGASPNVSNVKVETPLHMAARAGHTEVAKYLLQNKAKVNAKAKDDQTPLHCAARIGHTNMVKLLLENNANPNLATTAGHTPLHIAAREGHVETVLALLEK
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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) | 0 (0) | 0 (0) | 0 (0) | 2 (2) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 2
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | - | autism | 16 (6.25%) |
0.847377 | Down | 0.305455 | |||
| ||||||||||||
Kuwano, 2011_2 | Japan | Mother with ASD children | 21 (100.00%) | - | - | - | - | 21 (100.00%) |
2.73 | Up | 0.00132 | |
|
Proteomics Studies:0
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 |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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