Evidence Details for AKAP4
Basic Information Top
| 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 |
Sequences Top>AKAP4|8852|nucleotide
ATGATGGCGTACTCTGATACTACAATGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAA
GATCAGGACCGGAAAGTGATATGCTTTGTCGATGTGTCCACCCTGAATGTAGAAGATAAAGATTACAAGGATGCTGCTAGTTCCAGCTCAGAAGGCAACTTAAAC
CTGGGAAGTCTGGAAGAAAAAGAGATTATCGTGATCAAGGACACTGAGAAGAAAGACCAGTCTAAGACAGAGGGATCTGTATGCCTTTTCAAACAAGCTCCCTCT
GATCCTGTAAGTGTCCTCAACTGGCTTCTCAGTGATCTCCAGAAGTATGCCTTGGGTTTCCAACATGCACTGAGCCCCTCAACCTCTACCTGTAAACATAAAGTA
GGAGACACAGAGGGCGAATATCACAGAGCATCCTCTGAGAACTGCTACAGTGTCTATGCCGATCAAGTGAACATAGATTATTTGATGAACAGACCTCAAAACCTA
CGTCTAGAAATGACAGCAGCTAAAAACACCAACAATAATCAAAGTCCTTCAGCTCCTCCAGCCAAACCTCCTAGCACTCAGAGAGCAGTCATTTCCCCTGATGGA
GAATGTTCTATAGATGACCTTTCCTTCTACGTCAACCGACTATCTTCTCTGGTAATCCAGATGGCCCATAAGGAAATCAAGGAGAAGTTGGAAGGTAAAAGCAAA
TGCCTTCATCATTCAATCTGTCCATCCCCTGGGAACAAAGAGAGAATCAGTCCCCGAACTCCTGCGAGCAAGATTGCTTCTGAAATGGCCTATGAAGCTGTGGAA
CTGACAGCTGCAGAAATGCGTGGCACTGGAGAGGAGTCCAGGGAAGGTGGCCAGAAAAGCTTTCTATATAGCGAATTATCCAACAAGAGCAAAAGTGGAGACAAA
CAGATGTCCCAGAGAGAGAGCAAAGAATTTGCAGATTCCATCAGCAAGGGGCTCATGGTTTATGCAAATCAGGTGGCATCTGACATGATGGTCTCTCTCATGAAG
ACCTTGAAAGTGCACAGCTCTGGGAAGCCAATTCCAGCATCTGTGGTCCTGAAGAGGGTGTTGCTAAGGCACACCAAGGAGATTGTGTCCGATTTGATTGATTCT
Show »
ATGATGGCGTACTCTGATACTACAATGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAA
GATCAGGACCGGAAAGTGATATGCTTTGTCGATGTGTCCACCCTGAATGTAGAAGATAAAGATTACAAGGATGCTGCTAGTTCCAGCTCAGAAGGCAACTTAAAC
CTGGGAAGTCTGGAAGAAAAAGAGATTATCGTGATCAAGGACACTGAGAAGAAAGACCAGTCTAAGACAGAGGGATCTGTATGCCTTTTCAAACAAGCTCCCTCT
GATCCTGTAAGTGTCCTCAACTGGCTTCTCAGTGATCTCCAGAAGTATGCCTTGGGTTTCCAACATGCACTGAGCCCCTCAACCTCTACCTGTAAACATAAAGTA
GGAGACACAGAGGGCGAATATCACAGAGCATCCTCTGAGAACTGCTACAGTGTCTATGCCGATCAAGTGAACATAGATTATTTGATGAACAGACCTCAAAACCTA
CGTCTAGAAATGACAGCAGCTAAAAACACCAACAATAATCAAAGTCCTTCAGCTCCTCCAGCCAAACCTCCTAGCACTCAGAGAGCAGTCATTTCCCCTGATGGA
GAATGTTCTATAGATGACCTTTCCTTCTACGTCAACCGACTATCTTCTCTGGTAATCCAGATGGCCCATAAGGAAATCAAGGAGAAGTTGGAAGGTAAAAGCAAA
TGCCTTCATCATTCAATCTGTCCATCCCCTGGGAACAAAGAGAGAATCAGTCCCCGAACTCCTGCGAGCAAGATTGCTTCTGAAATGGCCTATGAAGCTGTGGAA
CTGACAGCTGCAGAAATGCGTGGCACTGGAGAGGAGTCCAGGGAAGGTGGCCAGAAAAGCTTTCTATATAGCGAATTATCCAACAAGAGCAAAAGTGGAGACAAA
CAGATGTCCCAGAGAGAGAGCAAAGAATTTGCAGATTCCATCAGCAAGGGGCTCATGGTTTATGCAAATCAGGTGGCATCTGACATGATGGTCTCTCTCATGAAG
ACCTTGAAAGTGCACAGCTCTGGGAAGCCAATTCCAGCATCTGTGGTCCTGAAGAGGGTGTTGCTAAGGCACACCAAGGAGATTGTGTCCGATTTGATTGATTCT
Show »
>AKAP4|8852|protein
MMAYSDTTMMSDDIDWLRSHRGVCKVDLYNPEGQQDQDRKVICFVDVSTLNVEDKDYKDAASSSSEGNLNLGSLEEKEIIVIKDTEKKDQSKTEGSVCLFKQAPS
DPVSVLNWLLSDLQKYALGFQHALSPSTSTCKHKVGDTEGEYHRASSENCYSVYADQVNIDYLMNRPQNLRLEMTAAKNTNNNQSPSAPPAKPPSTQRAVISPDG
ECSIDDLSFYVNRLSSLVIQMAHKEIKEKLEGKSKCLHHSICPSPGNKERISPRTPASKIASEMAYEAVELTAAEMRGTGEESREGGQKSFLYSELSNKSKSGDK
QMSQRESKEFADSISKGLMVYANQVASDMMVSLMKTLKVHSSGKPIPASVVLKRVLLRHTKEIVSDLIDSCMKNLHNITGVLMTDSDFVSAVKRNLFNQWKQNAT
DIMEAMLKRLVSALIGEEKETKSQSLSYASLKAGSHDPKCRNQSLEFSTMKAEMKERDKGKMKSDPCKSLTSAEKVGEHILKEGLTIWNQKQGNSCKVATKACSN
Show »
MMAYSDTTMMSDDIDWLRSHRGVCKVDLYNPEGQQDQDRKVICFVDVSTLNVEDKDYKDAASSSSEGNLNLGSLEEKEIIVIKDTEKKDQSKTEGSVCLFKQAPS
DPVSVLNWLLSDLQKYALGFQHALSPSTSTCKHKVGDTEGEYHRASSENCYSVYADQVNIDYLMNRPQNLRLEMTAAKNTNNNQSPSAPPAKPPSTQRAVISPDG
ECSIDDLSFYVNRLSSLVIQMAHKEIKEKLEGKSKCLHHSICPSPGNKERISPRTPASKIASEMAYEAVELTAAEMRGTGEESREGGQKSFLYSELSNKSKSGDK
QMSQRESKEFADSISKGLMVYANQVASDMMVSLMKTLKVHSSGKPIPASVVLKRVLLRHTKEIVSDLIDSCMKNLHNITGVLMTDSDFVSAVKRNLFNQWKQNAT
DIMEAMLKRLVSALIGEEKETKSQSLSYASLKAGSHDPKCRNQSLEFSTMKAEMKERDKGKMKSDPCKSLTSAEKVGEHILKEGLTIWNQKQGNSCKVATKACSN
Show »
Evidence summary TopClick 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) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| 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 |
| Edens, 2011 | Honduras | aCGH | |  | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| 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 |
Linkage Studies Top