Evidence Details for ANKS6
Basic Information Top
Gene Symbol: | ANKS6 ( ANKRD14,DKFZp686D24121,DKFZp781I0117,MGC70366,SAMD6 ) |
---|---|
Gene Full Name: | ankyrin repeat and sterile alpha motif domain containing 6 |
Band: | 9q22.33 |
Quick Links | Entrez ID:203286; OMIM: NA; Uniprot ID:ANKS6_HUMAN; ENSEMBL ID: ENSG00000165138; HGNC ID: 26724 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ANKS6|203286|nucleotide
ATGGGCGAGGGCGGGCTGCCCCCGGCCTTCCAGCTGCTGCTGCGCGCGTGTGACCAGGGCGACACGGAGACGGCGCGGCGGCTGCTGGAGCCGGGGGCGGCGGAG
CCAGCCGAGCGCGGCGCGGAGCCGGAGGCGGGCGCGGAGCCGGCGGGGGCCGAGGTGGCCGGGCCCGGGGCCGCAGCGGCGGGGGCAGTCGGGGCTCCGGTGCCC
GTGGATTGCTCGGACGAGGCGGGCAACACCGCACTGCAGTTCGCCGCGGCCGGGGGCCACGAACCGCTGGTGCGCTTCCTGCTGCGCCGCGGTGCCTCGGTCAAC
AGCCGCAACCACTACGGCTGGAGCGCGCTCATGCAGGCGGCCAGATTTGGGCATGTGAGTGTGGCACACCTCCTGTTGGATCACGGGGCTGATGTCAATGCCCAG
AACCGGCTGGGGGCCAGTGTGCTCACTGTGGCTTCTCGGGGCGGCCACCTGGGTGTGGTGAAGCTGCTCCTGGAAGCCGGTGCCTTTGTGGACCATCACCACCCT
TCAGGCGAGCAACTGGGGTTGGGCGGCAGCAGGGATGAGCCCTTGGACATCACAGCCCTGATGGCTGCCATCCAGCACGGGCACGAGGCCGTGGTGCGTCTACTG
ATGGAGTGGGGCGCGGACCCCAACCACGCAGCCCGGACCGTGGGCTGGAGCCCGCTGATGCTGGCCGCACTCACTGGGCGGCTTGGAGTGGCCCAGCAGCTGGTG
GAGAAGGGCGCCAACCCTGACCACCTCAGCGTGCTGGAGAAGACCGCCTTCGAGGTTGCACTGGACTGCAAGCACAGGGACCTTGTAGACTACCTGGACCCGCTG
ACCACCGTCAGGCCCAAAACAGATGAGGAGAAAAGGCGACCTGATATTTTCCATGCATTGAAAATGGGAAACTTCCAGCTGGTCAAAGAGATTGCCGATGAAGAC
CCCAGCCACGTGAACTTGGTCAATGGGGACGGGGCGACGCCACTGATGCTAGCAGCTGTTACGGGGCAGCTGGCTCTGGTGCAGCTGCTGGTGGAGAGGCACGCG
GATGTTGACAAGCAGGACAGCGTGCATGGCTGGACGGCCCTCATGCAGGCAACCTACCATGGGAATAAGGAAATTGTGAAATATCTGCTAAACCAAGGGGCCGAT
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ATGGGCGAGGGCGGGCTGCCCCCGGCCTTCCAGCTGCTGCTGCGCGCGTGTGACCAGGGCGACACGGAGACGGCGCGGCGGCTGCTGGAGCCGGGGGCGGCGGAG
CCAGCCGAGCGCGGCGCGGAGCCGGAGGCGGGCGCGGAGCCGGCGGGGGCCGAGGTGGCCGGGCCCGGGGCCGCAGCGGCGGGGGCAGTCGGGGCTCCGGTGCCC
GTGGATTGCTCGGACGAGGCGGGCAACACCGCACTGCAGTTCGCCGCGGCCGGGGGCCACGAACCGCTGGTGCGCTTCCTGCTGCGCCGCGGTGCCTCGGTCAAC
AGCCGCAACCACTACGGCTGGAGCGCGCTCATGCAGGCGGCCAGATTTGGGCATGTGAGTGTGGCACACCTCCTGTTGGATCACGGGGCTGATGTCAATGCCCAG
AACCGGCTGGGGGCCAGTGTGCTCACTGTGGCTTCTCGGGGCGGCCACCTGGGTGTGGTGAAGCTGCTCCTGGAAGCCGGTGCCTTTGTGGACCATCACCACCCT
TCAGGCGAGCAACTGGGGTTGGGCGGCAGCAGGGATGAGCCCTTGGACATCACAGCCCTGATGGCTGCCATCCAGCACGGGCACGAGGCCGTGGTGCGTCTACTG
ATGGAGTGGGGCGCGGACCCCAACCACGCAGCCCGGACCGTGGGCTGGAGCCCGCTGATGCTGGCCGCACTCACTGGGCGGCTTGGAGTGGCCCAGCAGCTGGTG
GAGAAGGGCGCCAACCCTGACCACCTCAGCGTGCTGGAGAAGACCGCCTTCGAGGTTGCACTGGACTGCAAGCACAGGGACCTTGTAGACTACCTGGACCCGCTG
ACCACCGTCAGGCCCAAAACAGATGAGGAGAAAAGGCGACCTGATATTTTCCATGCATTGAAAATGGGAAACTTCCAGCTGGTCAAAGAGATTGCCGATGAAGAC
CCCAGCCACGTGAACTTGGTCAATGGGGACGGGGCGACGCCACTGATGCTAGCAGCTGTTACGGGGCAGCTGGCTCTGGTGCAGCTGCTGGTGGAGAGGCACGCG
GATGTTGACAAGCAGGACAGCGTGCATGGCTGGACGGCCCTCATGCAGGCAACCTACCATGGGAATAAGGAAATTGTGAAATATCTGCTAAACCAAGGGGCCGAT
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>ANKS6|203286|protein
MGEGGLPPAFQLLLRACDQGDTETARRLLEPGAAEPAERGAEPEAGAEPAGAEVAGPGAAAAGAVGAPVPVDCSDEAGNTALQFAAAGGHEPLVRFLLRRGASVN
SRNHYGWSALMQAARFGHVSVAHLLLDHGADVNAQNRLGASVLTVASRGGHLGVVKLLLEAGAFVDHHHPSGEQLGLGGSRDEPLDITALMAAIQHGHEAVVRLL
MEWGADPNHAARTVGWSPLMLAALTGRLGVAQQLVEKGANPDHLSVLEKTAFEVALDCKHRDLVDYLDPLTTVRPKTDEEKRRPDIFHALKMGNFQLVKEIADED
PSHVNLVNGDGATPLMLAAVTGQLALVQLLVERHADVDKQDSVHGWTALMQATYHGNKEIVKYLLNQGADVTLRAKNGYTAFDLVMLLNDPDTELVRLLASVCMQ
VNKDKGRPSHQPPLPHSKVRQPWSIPVLPDDKGGLKSWWNRMSNRFRKLKLMQTLPRGLSSNQPLPFSDEPEPALDSTMRAAPQDKTSRSALPDAAPVTKDNGPG
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MGEGGLPPAFQLLLRACDQGDTETARRLLEPGAAEPAERGAEPEAGAEPAGAEVAGPGAAAAGAVGAPVPVDCSDEAGNTALQFAAAGGHEPLVRFLLRRGASVN
SRNHYGWSALMQAARFGHVSVAHLLLDHGADVNAQNRLGASVLTVASRGGHLGVVKLLLEAGAFVDHHHPSGEQLGLGGSRDEPLDITALMAAIQHGHEAVVRLL
MEWGADPNHAARTVGWSPLMLAALTGRLGVAQQLVEKGANPDHLSVLEKTAFEVALDCKHRDLVDYLDPLTTVRPKTDEEKRRPDIFHALKMGNFQLVKEIADED
PSHVNLVNGDGATPLMLAAVTGQLALVQLLVERHADVDKQDSVHGWTALMQATYHGNKEIVKYLLNQGADVTLRAKNGYTAFDLVMLLNDPDTELVRLLASVCMQ
VNKDKGRPSHQPPLPHSKVRQPWSIPVLPDDKGGLKSWWNRMSNRFRKLKLMQTLPRGLSSNQPLPFSDEPEPALDSTMRAAPQDKTSRSALPDAAPVTKDNGPG
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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) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |
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
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Turner TN, 2017 | - | Illumina X Ten | - | - | - | 476 | 476 | - | 2064 | Sanger sequencing |
Low Scale Gene Studies Top
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