Evidence Details for ANKS6


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 |


>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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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) |














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. |




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 |


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