Evidence Details for AKAP4


Gene Symbol: | AKAP4 ( AKAP 82,AKAP-4,AKAP82,CT99,FSC1,HI,PRKA4,hAKAP82,p82 ) |
---|---|
Gene Full Name: | A kinase (PRKA) anchor protein 4 |
Band: | Xp11.22 |
Quick Links | Entrez ID:8852; OMIM: 300185; Uniprot ID:AKAP4_HUMAN; ENSEMBL ID: ENSG00000147081; HGNC ID: 374 |
Relate to Another Database: | SFARIGene; denovo-db |


>AKAP4|8852|nucleotide
ATGATGGCGTACTCTGATACTACAATGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAA
GATCAGGACCGGAAAGTGATATGCTTTGTCGATGTGTCCACCCTGAATGTAGAAGATAAAGATTACAAGGATGCTGCTAGTTCCAGCTCAGAAGGCAACTTAAAC
CTGGGAAGTCTGGAAGAAAAAGAGATTATCGTGATCAAGGACACTGAGAAGAAAGACCAGTCTAAGACAGAGGGATCTGTATGCCTTTTCAAACAAGCTCCCTCT
GATCCTGTAAGTGTCCTCAACTGGCTTCTCAGTGATCTCCAGAAGTATGCCTTGGGTTTCCAACATGCACTGAGCCCCTCAACCTCTACCTGTAAACATAAAGTA
GGAGACACAGAGGGCGAATATCACAGAGCATCCTCTGAGAACTGCTACAGTGTCTATGCCGATCAAGTGAACATAGATTATTTGATGAACAGACCTCAAAACCTA
CGTCTAGAAATGACAGCAGCTAAAAACACCAACAATAATCAAAGTCCTTCAGCTCCTCCAGCCAAACCTCCTAGCACTCAGAGAGCAGTCATTTCCCCTGATGGA
GAATGTTCTATAGATGACCTTTCCTTCTACGTCAACCGACTATCTTCTCTGGTAATCCAGATGGCCCATAAGGAAATCAAGGAGAAGTTGGAAGGTAAAAGCAAA
TGCCTTCATCATTCAATCTGTCCATCCCCTGGGAACAAAGAGAGAATCAGTCCCCGAACTCCTGCGAGCAAGATTGCTTCTGAAATGGCCTATGAAGCTGTGGAA
CTGACAGCTGCAGAAATGCGTGGCACTGGAGAGGAGTCCAGGGAAGGTGGCCAGAAAAGCTTTCTATATAGCGAATTATCCAACAAGAGCAAAAGTGGAGACAAA
CAGATGTCCCAGAGAGAGAGCAAAGAATTTGCAGATTCCATCAGCAAGGGGCTCATGGTTTATGCAAATCAGGTGGCATCTGACATGATGGTCTCTCTCATGAAG
ACCTTGAAAGTGCACAGCTCTGGGAAGCCAATTCCAGCATCTGTGGTCCTGAAGAGGGTGTTGCTAAGGCACACCAAGGAGATTGTGTCCGATTTGATTGATTCT
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ATGATGGCGTACTCTGATACTACAATGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAA
GATCAGGACCGGAAAGTGATATGCTTTGTCGATGTGTCCACCCTGAATGTAGAAGATAAAGATTACAAGGATGCTGCTAGTTCCAGCTCAGAAGGCAACTTAAAC
CTGGGAAGTCTGGAAGAAAAAGAGATTATCGTGATCAAGGACACTGAGAAGAAAGACCAGTCTAAGACAGAGGGATCTGTATGCCTTTTCAAACAAGCTCCCTCT
GATCCTGTAAGTGTCCTCAACTGGCTTCTCAGTGATCTCCAGAAGTATGCCTTGGGTTTCCAACATGCACTGAGCCCCTCAACCTCTACCTGTAAACATAAAGTA
GGAGACACAGAGGGCGAATATCACAGAGCATCCTCTGAGAACTGCTACAGTGTCTATGCCGATCAAGTGAACATAGATTATTTGATGAACAGACCTCAAAACCTA
CGTCTAGAAATGACAGCAGCTAAAAACACCAACAATAATCAAAGTCCTTCAGCTCCTCCAGCCAAACCTCCTAGCACTCAGAGAGCAGTCATTTCCCCTGATGGA
GAATGTTCTATAGATGACCTTTCCTTCTACGTCAACCGACTATCTTCTCTGGTAATCCAGATGGCCCATAAGGAAATCAAGGAGAAGTTGGAAGGTAAAAGCAAA
TGCCTTCATCATTCAATCTGTCCATCCCCTGGGAACAAAGAGAGAATCAGTCCCCGAACTCCTGCGAGCAAGATTGCTTCTGAAATGGCCTATGAAGCTGTGGAA
CTGACAGCTGCAGAAATGCGTGGCACTGGAGAGGAGTCCAGGGAAGGTGGCCAGAAAAGCTTTCTATATAGCGAATTATCCAACAAGAGCAAAAGTGGAGACAAA
CAGATGTCCCAGAGAGAGAGCAAAGAATTTGCAGATTCCATCAGCAAGGGGCTCATGGTTTATGCAAATCAGGTGGCATCTGACATGATGGTCTCTCTCATGAAG
ACCTTGAAAGTGCACAGCTCTGGGAAGCCAATTCCAGCATCTGTGGTCCTGAAGAGGGTGTTGCTAAGGCACACCAAGGAGATTGTGTCCGATTTGATTGATTCT
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>AKAP4|8852|protein
MMAYSDTTMMSDDIDWLRSHRGVCKVDLYNPEGQQDQDRKVICFVDVSTLNVEDKDYKDAASSSSEGNLNLGSLEEKEIIVIKDTEKKDQSKTEGSVCLFKQAPS
DPVSVLNWLLSDLQKYALGFQHALSPSTSTCKHKVGDTEGEYHRASSENCYSVYADQVNIDYLMNRPQNLRLEMTAAKNTNNNQSPSAPPAKPPSTQRAVISPDG
ECSIDDLSFYVNRLSSLVIQMAHKEIKEKLEGKSKCLHHSICPSPGNKERISPRTPASKIASEMAYEAVELTAAEMRGTGEESREGGQKSFLYSELSNKSKSGDK
QMSQRESKEFADSISKGLMVYANQVASDMMVSLMKTLKVHSSGKPIPASVVLKRVLLRHTKEIVSDLIDSCMKNLHNITGVLMTDSDFVSAVKRNLFNQWKQNAT
DIMEAMLKRLVSALIGEEKETKSQSLSYASLKAGSHDPKCRNQSLEFSTMKAEMKERDKGKMKSDPCKSLTSAEKVGEHILKEGLTIWNQKQGNSCKVATKACSN
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MMAYSDTTMMSDDIDWLRSHRGVCKVDLYNPEGQQDQDRKVICFVDVSTLNVEDKDYKDAASSSSEGNLNLGSLEEKEIIVIKDTEKKDQSKTEGSVCLFKQAPS
DPVSVLNWLLSDLQKYALGFQHALSPSTSTCKHKVGDTEGEYHRASSENCYSVYADQVNIDYLMNRPQNLRLEMTAAKNTNNNQSPSAPPAKPPSTQRAVISPDG
ECSIDDLSFYVNRLSSLVIQMAHKEIKEKLEGKSKCLHHSICPSPGNKERISPRTPASKIASEMAYEAVELTAAEMRGTGEESREGGQKSFLYSELSNKSKSGDK
QMSQRESKEFADSISKGLMVYANQVASDMMVSLMKTLKVHSSGKPIPASVVLKRVLLRHTKEIVSDLIDSCMKNLHNITGVLMTDSDFVSAVKRNLFNQWKQNAT
DIMEAMLKRLVSALIGEEKETKSQSLSYASLKAGSHDPKCRNQSLEFSTMKAEMKERDKGKMKSDPCKSLTSAEKVGEHILKEGLTIWNQKQGNSCKVATKACSN
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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) | 1 (5) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (5) |






Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Marshall, 2008 | - | SNP microarray | ![]() | ![]() | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
Chung, 2011 | - | SNP microarray | ![]() | ![]() | ASD | - | - | - | - | 1 | - | 1 |
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Edens, 2011 | Honduras | aCGH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
Edens, 2011 | Austria | FISH, aCGH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
Edens, 2011 | Honduras | aCGH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
Edens, 2011 | Austria | FISH, aCGH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |














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