Evidence Details for ANKRD13D
Basic Information Top
Gene Symbol: | ANKRD13D ( MGC50828 ) |
---|---|
Gene Full Name: | ankyrin repeat domain 13 family, member D |
Band: | 11q13.2 |
Quick Links | Entrez ID:338692; OMIM: NA; Uniprot ID:AN13D_HUMAN; ENSEMBL ID: ENSG00000172932; HGNC ID: 27880 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ANKRD13D|338692|nucleotide
ATGGCCGGCCCGGGCCCCACCTTCCCGCTGCACCGGCTCGTCTGGGCGAACCGGCATCGCGAACTGGAGGCCGCACTGCACAGCCACCAGCACGACATTGAACAG
GAGGACCCCCGCGGGCGGACCCCACTGGAGCTGGCCGTGTCTCTGGGAAACCTGGAGTCTGTGAGAGTGCTCCTTCGACACAATGCCAACGTGGGCAAAGAGAAC
CGCCAGGGCTGGGCAGTCCTGCAGGAGGCAGTCAGCACTGGAGACCCCGAGATGGTGCAGCTGGTGCTCCAGTATCGGGACTACCAGAGGGCCACGCAGAGGCTG
GCGGGCATTCCGGAACTGCTCAACAAACTTCGCCAGGCCCCCGATTTCTACGTTGAGATGAAGTGGGAGTTCACCAGCTGGGTGCCCCTTGTGTCTAAGATGTGC
CCAAGCGATGTGTACCGCGTGTGGAAGCGGGGTGAGAGCCTGCGAGTAGACACCAGTCTCCTGGGCTTCGAGCACATGACCTGGCAGCGGGGCCGGAGGAGCTTC
ATCTTCAAGGGCCAGGAGGCAGGAGCCCTGGTGATGGAAGTGGACCATGACCGGCAGGTGGTGCATGTGGAGACACTGGGGCTCACTCTGCAGGAGCCCGAAACA
CTGCTGGCCGCCATGCGGCCCAGCGAGGAGCATGTGGCCAGTCGCCTCACCTCTCCTATCGTCTCCACCCACCTGGACACTCGTAATGTGGCCTTTGAGAGGAAC
AAATGTGGTATCTGGGGCTGGCGGTCTGAGAAGATGGAAACTGTTAGCGGCTACGAGGCCAAGGTGTACAGTGCCACCAACGTGGAGCTGGTGACACGCACACGC
ACGGAGCACCTCTCTGATCAGGACAAGTCGAGGAGCAAAGCGGGGAAGACTCCATTCCAGTCCTTCCTGGGGATGGCGCAGCAGCATTCCTCCCACACCGGGGCC
CCCGTGCAGCAGGCAGCCAGCCCCACCAACCCCACAGCCATCTCCCCTGAGGAGTACTTCGACCCCAACTTCAGCCTGGAGTCACGGAACATTGGCCGCCCCATC
GAGATGTCCAGCAAAGTACAGAGGTTCAAGGCAACACTGTGGCTGAGTGAAGAGCACCCGCTCTCCCTGGGTGACCAGGTGACCCCCATCATCGACCTAATGGCC
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ATGGCCGGCCCGGGCCCCACCTTCCCGCTGCACCGGCTCGTCTGGGCGAACCGGCATCGCGAACTGGAGGCCGCACTGCACAGCCACCAGCACGACATTGAACAG
GAGGACCCCCGCGGGCGGACCCCACTGGAGCTGGCCGTGTCTCTGGGAAACCTGGAGTCTGTGAGAGTGCTCCTTCGACACAATGCCAACGTGGGCAAAGAGAAC
CGCCAGGGCTGGGCAGTCCTGCAGGAGGCAGTCAGCACTGGAGACCCCGAGATGGTGCAGCTGGTGCTCCAGTATCGGGACTACCAGAGGGCCACGCAGAGGCTG
GCGGGCATTCCGGAACTGCTCAACAAACTTCGCCAGGCCCCCGATTTCTACGTTGAGATGAAGTGGGAGTTCACCAGCTGGGTGCCCCTTGTGTCTAAGATGTGC
CCAAGCGATGTGTACCGCGTGTGGAAGCGGGGTGAGAGCCTGCGAGTAGACACCAGTCTCCTGGGCTTCGAGCACATGACCTGGCAGCGGGGCCGGAGGAGCTTC
ATCTTCAAGGGCCAGGAGGCAGGAGCCCTGGTGATGGAAGTGGACCATGACCGGCAGGTGGTGCATGTGGAGACACTGGGGCTCACTCTGCAGGAGCCCGAAACA
CTGCTGGCCGCCATGCGGCCCAGCGAGGAGCATGTGGCCAGTCGCCTCACCTCTCCTATCGTCTCCACCCACCTGGACACTCGTAATGTGGCCTTTGAGAGGAAC
AAATGTGGTATCTGGGGCTGGCGGTCTGAGAAGATGGAAACTGTTAGCGGCTACGAGGCCAAGGTGTACAGTGCCACCAACGTGGAGCTGGTGACACGCACACGC
ACGGAGCACCTCTCTGATCAGGACAAGTCGAGGAGCAAAGCGGGGAAGACTCCATTCCAGTCCTTCCTGGGGATGGCGCAGCAGCATTCCTCCCACACCGGGGCC
CCCGTGCAGCAGGCAGCCAGCCCCACCAACCCCACAGCCATCTCCCCTGAGGAGTACTTCGACCCCAACTTCAGCCTGGAGTCACGGAACATTGGCCGCCCCATC
GAGATGTCCAGCAAAGTACAGAGGTTCAAGGCAACACTGTGGCTGAGTGAAGAGCACCCGCTCTCCCTGGGTGACCAGGTGACCCCCATCATCGACCTAATGGCC
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>ANKRD13D|338692|protein
MAGPGPTFPLHRLVWANRHRELEAALHSHQHDIEQEDPRGRTPLELAVSLGNLESVRVLLRHNANVGKENRQGWAVLQEAVSTGDPEMVQLVLQYRDYQRATQRL
AGIPELLNKLRQAPDFYVEMKWEFTSWVPLVSKMCPSDVYRVWKRGESLRVDTSLLGFEHMTWQRGRRSFIFKGQEAGALVMEVDHDRQVVHVETLGLTLQEPET
LLAAMRPSEEHVASRLTSPIVSTHLDTRNVAFERNKCGIWGWRSEKMETVSGYEAKVYSATNVELVTRTRTEHLSDQDKSRSKAGKTPFQSFLGMAQQHSSHTGA
PVQQAASPTNPTAISPEEYFDPNFSLESRNIGRPIEMSSKVQRFKATLWLSEEHPLSLGDQVTPIIDLMAISNAHFAKLRDFITLRLPPGFPVKIEIPLFHVLNA
RITFSNLCGCDEPLSSVWVPAPSSAVAASGNPFPCEVDPTVFEVPNGYSVLGMERNEPLRDEDDDLLQFAIQQSLLEAGTEAEQVTVWEALTNTRPGARPPPQAT
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MAGPGPTFPLHRLVWANRHRELEAALHSHQHDIEQEDPRGRTPLELAVSLGNLESVRVLLRHNANVGKENRQGWAVLQEAVSTGDPEMVQLVLQYRDYQRATQRL
AGIPELLNKLRQAPDFYVEMKWEFTSWVPLVSKMCPSDVYRVWKRGESLRVDTSLLGFEHMTWQRGRRSFIFKGQEAGALVMEVDHDRQVVHVETLGLTLQEPET
LLAAMRPSEEHVASRLTSPIVSTHLDTRNVAFERNKCGIWGWRSEKMETVSGYEAKVYSATNVELVTRTRTEHLSDQDKSRSKAGKTPFQSFLGMAQQHSSHTGA
PVQQAASPTNPTAISPEEYFDPNFSLESRNIGRPIEMSSKVQRFKATLWLSEEHPLSLGDQVTPIIDLMAISNAHFAKLRDFITLRLPPGFPVKIEIPLFHVLNA
RITFSNLCGCDEPLSSVWVPAPSSAVAASGNPFPCEVDPTVFEVPNGYSVLGMERNEPLRDEDDDLLQFAIQQSLLEAGTEAEQVTVWEALTNTRPGARPPPQAT
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Evidence summary Top
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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 |
---|---|---|---|---|
Takata A, 2018 | 262 | 262 | 322 | Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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