Evidence Details for ADCY8
Basic Information Top
Gene Symbol: | ADCY8 ( AC8,ADCY3,HBAC1 ) |
---|---|
Gene Full Name: | adenylate cyclase 8 (brain) |
Band: | 8q24.22 |
Quick Links | Entrez ID:114; OMIM: 103070; Uniprot ID:ADCY8_HUMAN; ENSEMBL ID: ENSG00000155897; HGNC ID: 239 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ADCY8|114|nucleotide
ATGGAGCTCTCCGATGTGCGCTGCCTTACAGGCAGCGAGGAACTCTACACCATCCACCCGACGCCCCCGGCCGGCGACGGCAGGAGCGCCTCCCGGCCGCAGCGG
CTGCTGTGGCAGACGGCGGTGCGACACATCACGGAGCAGCGCTTCATTCACGGGCACCGGGGAGGCAGCGGCAGCGGGAGTGGAGGCTCGGGCAAAGCCTCGGAC
CCTGCGGGCGGCGGCCCCAACCACCACGCGCCGCAGCTGTCAGGCGACTCGGCGCTGCCCCTCTACTCGCTGGGCCCGGGAGAGCGAGCGCACAGCACCTGCGGC
ACCAAAGTCTTCCCGGAACGCAGCGGGAGCGGCAGTGCCAGCGGCAGCGGAGGCGGGGGCGACCTGGGCTTCCTGCACCTTGACTGTGCCCCTAGCAACTCGGAT
TTCTTTCTTAATGGGGGCTATAGCTACCGAGGGGTCATTTTCCCCACCCTGCGCAACTCCTTCAAATCTCGGGATTTGGAACGCCTCTACCAGCGCTATTTCTTG
GGCCAAAGGCGCAAATCGGAAGTGGTGATGAACGTGCTGGACGTGCTGACCAAACTCACTCTCTTGGTCCTACACTTGAGCCTGGCCTCGGCCCCCATGGACCCG
CTCAAGGGCATCCTGCTGGGCTTCTTCACCGGCATTGAGGTAGTGATCTGCGCCCTGGTGGTGGTCAGGAAGGACACCACCTCCCACACGTACCTGCAGTACAGC
GGCGTGGTCACCTGGGTGGCCATGACCACCCAGATCCTGGCAGCAGGCCTCGGCTACGGGCTCCTGGGCGACGGCATAGGCTACGTGCTCTTCACGCTCTTCGCC
ACCTACAGTATGCTGCCGCTGCCGCTCACCTGGGCCATCCTGGCCGGCCTGGGCACCTCGCTGCTGCAGGTCATCCTCCAAGTGGTCATACCCCGGCTGGCGGTC
ATTTCCATCAACCAGGTTGTGGCCCAGGCAGTGCTATTCATGTGTATGAACACAGCTGGAATCTTCATCAGTTACCTGTCAGACCGGGCCCAGCGCCAAGCTTTC
CTGGAGACTCGGAGGTGTGTGGAGGCCAGGCTGCGCCTGGAGACAGAGAACCAAAGACAGGAGCGGCTCGTGCTTTCTGTGCTCCCCCGGTTTGTTGTCCTGGAA
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ATGGAGCTCTCCGATGTGCGCTGCCTTACAGGCAGCGAGGAACTCTACACCATCCACCCGACGCCCCCGGCCGGCGACGGCAGGAGCGCCTCCCGGCCGCAGCGG
CTGCTGTGGCAGACGGCGGTGCGACACATCACGGAGCAGCGCTTCATTCACGGGCACCGGGGAGGCAGCGGCAGCGGGAGTGGAGGCTCGGGCAAAGCCTCGGAC
CCTGCGGGCGGCGGCCCCAACCACCACGCGCCGCAGCTGTCAGGCGACTCGGCGCTGCCCCTCTACTCGCTGGGCCCGGGAGAGCGAGCGCACAGCACCTGCGGC
ACCAAAGTCTTCCCGGAACGCAGCGGGAGCGGCAGTGCCAGCGGCAGCGGAGGCGGGGGCGACCTGGGCTTCCTGCACCTTGACTGTGCCCCTAGCAACTCGGAT
TTCTTTCTTAATGGGGGCTATAGCTACCGAGGGGTCATTTTCCCCACCCTGCGCAACTCCTTCAAATCTCGGGATTTGGAACGCCTCTACCAGCGCTATTTCTTG
GGCCAAAGGCGCAAATCGGAAGTGGTGATGAACGTGCTGGACGTGCTGACCAAACTCACTCTCTTGGTCCTACACTTGAGCCTGGCCTCGGCCCCCATGGACCCG
CTCAAGGGCATCCTGCTGGGCTTCTTCACCGGCATTGAGGTAGTGATCTGCGCCCTGGTGGTGGTCAGGAAGGACACCACCTCCCACACGTACCTGCAGTACAGC
GGCGTGGTCACCTGGGTGGCCATGACCACCCAGATCCTGGCAGCAGGCCTCGGCTACGGGCTCCTGGGCGACGGCATAGGCTACGTGCTCTTCACGCTCTTCGCC
ACCTACAGTATGCTGCCGCTGCCGCTCACCTGGGCCATCCTGGCCGGCCTGGGCACCTCGCTGCTGCAGGTCATCCTCCAAGTGGTCATACCCCGGCTGGCGGTC
ATTTCCATCAACCAGGTTGTGGCCCAGGCAGTGCTATTCATGTGTATGAACACAGCTGGAATCTTCATCAGTTACCTGTCAGACCGGGCCCAGCGCCAAGCTTTC
CTGGAGACTCGGAGGTGTGTGGAGGCCAGGCTGCGCCTGGAGACAGAGAACCAAAGACAGGAGCGGCTCGTGCTTTCTGTGCTCCCCCGGTTTGTTGTCCTGGAA
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>ADCY8|114|protein
MELSDVRCLTGSEELYTIHPTPPAGDGRSASRPQRLLWQTAVRHITEQRFIHGHRGGSGSGSGGSGKASDPAGGGPNHHAPQLSGDSALPLYSLGPGERAHSTCG
TKVFPERSGSGSASGSGGGGDLGFLHLDCAPSNSDFFLNGGYSYRGVIFPTLRNSFKSRDLERLYQRYFLGQRRKSEVVMNVLDVLTKLTLLVLHLSLASAPMDP
LKGILLGFFTGIEVVICALVVVRKDTTSHTYLQYSGVVTWVAMTTQILAAGLGYGLLGDGIGYVLFTLFATYSMLPLPLTWAILAGLGTSLLQVILQVVIPRLAV
ISINQVVAQAVLFMCMNTAGIFISYLSDRAQRQAFLETRRCVEARLRLETENQRQERLVLSVLPRFVVLEMINDMTNVEDEHLQHQFHRIYIHRYENVSILFADV
KGFTNLSTTLSAQELVRMLNELFARFDRLAHEHHCLRIKILGDCYYCVSGLPEPRQDHAHCCVEMGLSMIKTIRYVRSRTKHDVDMRIGIHSGSVLCGVLGLRKW
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MELSDVRCLTGSEELYTIHPTPPAGDGRSASRPQRLLWQTAVRHITEQRFIHGHRGGSGSGSGGSGKASDPAGGGPNHHAPQLSGDSALPLYSLGPGERAHSTCG
TKVFPERSGSGSASGSGGGGDLGFLHLDCAPSNSDFFLNGGYSYRGVIFPTLRNSFKSRDLERLYQRYFLGQRRKSEVVMNVLDVLTKLTLLVLHLSLASAPMDP
LKGILLGFFTGIEVVICALVVVRKDTTSHTYLQYSGVVTWVAMTTQILAAGLGYGLLGDGIGYVLFTLFATYSMLPLPLTWAILAGLGTSLLQVILQVVIPRLAV
ISINQVVAQAVLFMCMNTAGIFISYLSDRAQRQAFLETRRCVEARLRLETENQRQERLVLSVLPRFVVLEMINDMTNVEDEHLQHQFHRIYIHRYENVSILFADV
KGFTNLSTTLSAQELVRMLNELFARFDRLAHEHHCLRIKILGDCYYCVSGLPEPRQDHAHCCVEMGLSMIKTIRYVRSRTKHDVDMRIGIHSGSVLCGVLGLRKW
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Evidence summary Top
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 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (2) | 0 (0) | 0 (4) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Szatmari, 2007 | Europe, North America | SNP microarray | ASD | 1491 | - | - | - | - | - | 0 |
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 |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Toma C, 2014 | - | Illumina HiSeq 2000 | - | - | ASD | 10 | - | - | 21 | - |
Doan RN, 2016 | - | - | - | - | ASD | - | - | - | - | - |
Low Scale Gene Studies Top
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