Evidence Details for AKAP2
Basic Information Top
| Gene Symbol: | AKAP2 ( AKAP-2,AKAPKL,DKFZp564L0716,FLJ53197,FLJ98336,PALM2,PRKA2 ) |
|---|---|
| Gene Full Name: | A kinase (PRKA) anchor protein 2 |
| Band: | 9q31.3 |
| Quick Links | Entrez ID:11217; OMIM: 604582; Uniprot ID:AKAP2_HUMAN; ENSEMBL ID: ENSG00000157654,ENSG00000241978; HGNC ID: 372 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>AKAP2|11217|nucleotide
ATGCGCTGGCCCCAGCCCGGGGCTGCCGCTCGCCTTCCCCCGGAGTCTCCTGGACCCCCGGAGTCTCCTGGACCCCCGGAGCGGGAGGCAGCGGCCGCGCGGCGC
TGGACTGGAGCAGAACCCCAGGACTGCGCCCCCGGGAGCGGGCGCCCAGAGAAGCCTCCCCAGCTTTCTGAGGATGATATCTGGCTAAAAAGCGAGGGAGACAAC
TATAGTGCCACCCTCCTGGAGCCTGCTGCCAGCTCTCTTTCCCCAGATCACAAAAACATGGAAATTGAGGTGTCTGTTGCAGAATGTAAAAGTGTTCCTGGAATC
ACCTCTACCCCACATCCCATGGACCATCCCTCCGCTTTCTATTCACCCCCGCATAATGGCCTCCTTACTGATCACCACGAATCCCTGGATAATGATGTTGCCAGA
GAGATCCGCTATCTAGATGAGGTGCTAGAGGCCAACTGCTGTGATTCTGCTGTGGATGGAACGTACAATGGAACATCCTCCCCAGAGCCTGGTGCAGTGGTTCTG
GTGGGCGGCCTAAGCCCCCCTGTCCACGAGGCGACCCAGCCAGAACCCACTGAAAGAACAGCTAGCCGGCAGGCACCTCCTCACATCGAGCTCAGTAATAGCAGC
CCTGACCCCATGGCAGAGGCAGAAAGAACAAATGGCCATTCCCCCAGCCAGCCTAGAGATGCGCTGGGGGACAGCCTGCAGGTGCCTGTCAGCCCCAGCTCCACA
ACCAGCTCACGGTGTTCTTCCCGAGATGGAGAGTTCACTCTCACCACACTGAAAAAGGAGGCCAAGTTTGAGCTGCGTGCCTTCCATGAGGACAAGAAGCCCTCC
AAGCTCTTTGAGGATGACGAGCATGAGAAAGAACAATACTGCATTAGAAAAGTGAGGCCTTCAGAGGAGATGCTGGAGCTGGAAAAGGAGAGGAGAGAGCTCATC
CGCAGCCAGGCCGTCAAGAAGAATCCTGGCATTGCAGCAAAATGGTGGAATCCCCCGCAGGAAAAAACCATCGAGGAGCAGCTGGACGAGGAACATCTGGAGTCG
CACAAAAAGTACAAGGAGCGCAAAGAGAGAAGGGCACAGCAGGAACAGTTGCTGCTGCAGAAGCAGTTACAGCAGCAGCAGCAGCAGCCCCCATCGCAGCTCTGC
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ATGCGCTGGCCCCAGCCCGGGGCTGCCGCTCGCCTTCCCCCGGAGTCTCCTGGACCCCCGGAGTCTCCTGGACCCCCGGAGCGGGAGGCAGCGGCCGCGCGGCGC
TGGACTGGAGCAGAACCCCAGGACTGCGCCCCCGGGAGCGGGCGCCCAGAGAAGCCTCCCCAGCTTTCTGAGGATGATATCTGGCTAAAAAGCGAGGGAGACAAC
TATAGTGCCACCCTCCTGGAGCCTGCTGCCAGCTCTCTTTCCCCAGATCACAAAAACATGGAAATTGAGGTGTCTGTTGCAGAATGTAAAAGTGTTCCTGGAATC
ACCTCTACCCCACATCCCATGGACCATCCCTCCGCTTTCTATTCACCCCCGCATAATGGCCTCCTTACTGATCACCACGAATCCCTGGATAATGATGTTGCCAGA
GAGATCCGCTATCTAGATGAGGTGCTAGAGGCCAACTGCTGTGATTCTGCTGTGGATGGAACGTACAATGGAACATCCTCCCCAGAGCCTGGTGCAGTGGTTCTG
GTGGGCGGCCTAAGCCCCCCTGTCCACGAGGCGACCCAGCCAGAACCCACTGAAAGAACAGCTAGCCGGCAGGCACCTCCTCACATCGAGCTCAGTAATAGCAGC
CCTGACCCCATGGCAGAGGCAGAAAGAACAAATGGCCATTCCCCCAGCCAGCCTAGAGATGCGCTGGGGGACAGCCTGCAGGTGCCTGTCAGCCCCAGCTCCACA
ACCAGCTCACGGTGTTCTTCCCGAGATGGAGAGTTCACTCTCACCACACTGAAAAAGGAGGCCAAGTTTGAGCTGCGTGCCTTCCATGAGGACAAGAAGCCCTCC
AAGCTCTTTGAGGATGACGAGCATGAGAAAGAACAATACTGCATTAGAAAAGTGAGGCCTTCAGAGGAGATGCTGGAGCTGGAAAAGGAGAGGAGAGAGCTCATC
CGCAGCCAGGCCGTCAAGAAGAATCCTGGCATTGCAGCAAAATGGTGGAATCCCCCGCAGGAAAAAACCATCGAGGAGCAGCTGGACGAGGAACATCTGGAGTCG
CACAAAAAGTACAAGGAGCGCAAAGAGAGAAGGGCACAGCAGGAACAGTTGCTGCTGCAGAAGCAGTTACAGCAGCAGCAGCAGCAGCCCCCATCGCAGCTCTGC
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>AKAP2|11217|protein
MRWPQPGAAARLPPESPGPPESPGPPEREAAAARRWTGAEPQDCAPGSGRPEKPPQLSEDDIWLKSEGDNYSATLLEPAASSLSPDHKNMEIEVSVAECKSVPGI
TSTPHPMDHPSAFYSPPHNGLLTDHHESLDNDVAREIRYLDEVLEANCCDSAVDGTYNGTSSPEPGAVVLVGGLSPPVHEATQPEPTERTASRQAPPHIELSNSS
PDPMAEAERTNGHSPSQPRDALGDSLQVPVSPSSTTSSRCSSRDGEFTLTTLKKEAKFELRAFHEDKKPSKLFEDDEHEKEQYCIRKVRPSEEMLELEKERRELI
RSQAVKKNPGIAAKWWNPPQEKTIEEQLDEEHLESHKKYKERKERRAQQEQLLLQKQLQQQQQQPPSQLCTAPASSHERASMIDKAKEDIVTEQIDFSAARKQFQ
LMENSRQAVAKGQSTPRLFSIKPFYRPLGSVNSDKPLTNPRPPSVGGPPEDSGASAAKGQKSPGALETPSAAGSQGNTASQGKEGPYSEPSKRGPLSKLWAEDGE
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MRWPQPGAAARLPPESPGPPESPGPPEREAAAARRWTGAEPQDCAPGSGRPEKPPQLSEDDIWLKSEGDNYSATLLEPAASSLSPDHKNMEIEVSVAECKSVPGI
TSTPHPMDHPSAFYSPPHNGLLTDHHESLDNDVAREIRYLDEVLEANCCDSAVDGTYNGTSSPEPGAVVLVGGLSPPVHEATQPEPTERTASRQAPPHIELSNSS
PDPMAEAERTNGHSPSQPRDALGDSLQVPVSPSSTTSSRCSSRDGEFTLTTLKKEAKFELRAFHEDKKPSKLFEDDEHEKEQYCIRKVRPSEEMLELEKERRELI
RSQAVKKNPGIAAKWWNPPQEKTIEEQLDEEHLESHKKYKERKERRAQQEQLLLQKQLQQQQQQPPSQLCTAPASSHERASMIDKAKEDIVTEQIDFSAARKQFQ
LMENSRQAVAKGQSTPRLFSIKPFYRPLGSVNSDKPLTNPRPPSVGGPPEDSGASAAKGQKSPGALETPSAAGSQGNTASQGKEGPYSEPSKRGPLSKLWAEDGE
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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 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies TopLinkage Studies Top