Evidence Details for ADCY6
Basic Information Top
Gene Symbol: | ADCY6 ( AC6,DKFZp779F075,KIAA0422 ) |
---|---|
Gene Full Name: | adenylate cyclase 6 |
Band: | 12q13.12 |
Quick Links | Entrez ID:112; OMIM: 600294; Uniprot ID:ADCY6_HUMAN; ENSEMBL ID: ENSG00000174233; HGNC ID: 237 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ADCY6|112|nucleotide
ATGTCATGGTTTAGTGGCCTCCTGGTCCCTAAAGTGGATGAACGGAAAACAGCCTGGGGTGAACGCAATGGGCAGAAGCGTTCGCGGCGCCGTGGCACTCGGGCA
GGTGGCTTCTGCACGCCCCGCTATATGAGCTGCCTCCGGGATGCAGAGCCACCCAGCCCCACCCCTGCGGGCCCCCCTCGGTGCCCCTGGCAGGATGACGCCTTC
ATCCGGAGGGGCGGCCCAGGCAAGGGCAAGGAGCTGGGGCTGCGGGCAGTGGCCCTGGGCTTCGAGGATACCGAGGTGACAACGACAGCGGGCGGGACGGCTGAG
GTGGCGCCCGACGCGGTGCCCAGGAGTGGGCGATCCTGCTGGCGCCGTCTGGTGCAGGTGTTCCAGTCGAAGCAGTTCCGTTCGGCCAAGCTGGAGCGCCTGTAC
CAGCGGTACTTCTTCCAGATGAACCAGAGCAGCCTGACGCTGCTGATGGCGGTGCTGGTGCTGCTCACAGCGGTGCTGCTGGCTTTCCACGCCGCACCCGCCCGC
CCTCAGCCTGCCTATGTGGCACTGTTGGCCTGTGCCGCCGCCCTGTTCGTGGGGCTCATGGTGGTGTGTAACCGGCATAGCTTCCGCCAGGACTCCATGTGGGTG
GTGAGCTACGTGGTGCTGGGCATCCTGGCGGCAGTGCAGGTCGGGGGCGCTCTCGCAGCAGACCCGCGCAGCCCCTCTGCGGGCCTCTGGTGCCCTGTGTTCTTT
GTCTACATCGCCTACACGCTCCTCCCCATCCGCATGCGGGCTGCCGTCCTCAGCGGCCTGGGCCTCTCCACCTTGCATTTGATCTTGGCCTGGCAACTTAACCGT
GGTGATGCCTTCCTCTGGAAGCAGCTCGGTGCCAATGTGCTGCTGTTCCTCTGCACCAACGTCATTGGCATCTGCACACACTATCCAGCAGAGGTGTCTCAGCGC
CAGGCCTTTCAGGAGACCCGCGGTTACATCCAGGCCCGGCTCCACCTGCAGCATGAGAATCGGCAGCAGGAGCGGCTGCTGCTGTCGGTATTGCCCCAGCACGTT
GCCATGGAGATGAAAGAAGACATCAACACAAAAAAAGAAGACATGATGTTCCACAAGATCTACATACAGAAGCATGACAATGTCAGCATCCTGTTTGCAGACATT
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ATGTCATGGTTTAGTGGCCTCCTGGTCCCTAAAGTGGATGAACGGAAAACAGCCTGGGGTGAACGCAATGGGCAGAAGCGTTCGCGGCGCCGTGGCACTCGGGCA
GGTGGCTTCTGCACGCCCCGCTATATGAGCTGCCTCCGGGATGCAGAGCCACCCAGCCCCACCCCTGCGGGCCCCCCTCGGTGCCCCTGGCAGGATGACGCCTTC
ATCCGGAGGGGCGGCCCAGGCAAGGGCAAGGAGCTGGGGCTGCGGGCAGTGGCCCTGGGCTTCGAGGATACCGAGGTGACAACGACAGCGGGCGGGACGGCTGAG
GTGGCGCCCGACGCGGTGCCCAGGAGTGGGCGATCCTGCTGGCGCCGTCTGGTGCAGGTGTTCCAGTCGAAGCAGTTCCGTTCGGCCAAGCTGGAGCGCCTGTAC
CAGCGGTACTTCTTCCAGATGAACCAGAGCAGCCTGACGCTGCTGATGGCGGTGCTGGTGCTGCTCACAGCGGTGCTGCTGGCTTTCCACGCCGCACCCGCCCGC
CCTCAGCCTGCCTATGTGGCACTGTTGGCCTGTGCCGCCGCCCTGTTCGTGGGGCTCATGGTGGTGTGTAACCGGCATAGCTTCCGCCAGGACTCCATGTGGGTG
GTGAGCTACGTGGTGCTGGGCATCCTGGCGGCAGTGCAGGTCGGGGGCGCTCTCGCAGCAGACCCGCGCAGCCCCTCTGCGGGCCTCTGGTGCCCTGTGTTCTTT
GTCTACATCGCCTACACGCTCCTCCCCATCCGCATGCGGGCTGCCGTCCTCAGCGGCCTGGGCCTCTCCACCTTGCATTTGATCTTGGCCTGGCAACTTAACCGT
GGTGATGCCTTCCTCTGGAAGCAGCTCGGTGCCAATGTGCTGCTGTTCCTCTGCACCAACGTCATTGGCATCTGCACACACTATCCAGCAGAGGTGTCTCAGCGC
CAGGCCTTTCAGGAGACCCGCGGTTACATCCAGGCCCGGCTCCACCTGCAGCATGAGAATCGGCAGCAGGAGCGGCTGCTGCTGTCGGTATTGCCCCAGCACGTT
GCCATGGAGATGAAAGAAGACATCAACACAAAAAAAGAAGACATGATGTTCCACAAGATCTACATACAGAAGCATGACAATGTCAGCATCCTGTTTGCAGACATT
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>ADCY6|112|protein
MSWFSGLLVPKVDERKTAWGERNGQKRSRRRGTRAGGFCTPRYMSCLRDAEPPSPTPAGPPRCPWQDDAFIRRGGPGKGKELGLRAVALGFEDTEVTTTAGGTAE
VAPDAVPRSGRSCWRRLVQVFQSKQFRSAKLERLYQRYFFQMNQSSLTLLMAVLVLLTAVLLAFHAAPARPQPAYVALLACAAALFVGLMVVCNRHSFRQDSMWV
VSYVVLGILAAVQVGGALAADPRSPSAGLWCPVFFVYIAYTLLPIRMRAAVLSGLGLSTLHLILAWQLNRGDAFLWKQLGANVLLFLCTNVIGICTHYPAEVSQR
QAFQETRGYIQARLHLQHENRQQERLLLSVLPQHVAMEMKEDINTKKEDMMFHKIYIQKHDNVSILFADIEGFTSLASQCTAQELVMTLNELFARFDKLAAENHC
LRIKILGDCYYCVSGLPEARADHAHCCVEMGVDMIEAISLVREVTGVNVNMRVGIHSGRVHCGVLGLRKWQFDVWSNDVTLANHMEAGGRAGRIHITRATLQYLN
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MSWFSGLLVPKVDERKTAWGERNGQKRSRRRGTRAGGFCTPRYMSCLRDAEPPSPTPAGPPRCPWQDDAFIRRGGPGKGKELGLRAVALGFEDTEVTTTAGGTAE
VAPDAVPRSGRSCWRRLVQVFQSKQFRSAKLERLYQRYFFQMNQSSLTLLMAVLVLLTAVLLAFHAAPARPQPAYVALLACAAALFVGLMVVCNRHSFRQDSMWV
VSYVVLGILAAVQVGGALAADPRSPSAGLWCPVFFVYIAYTLLPIRMRAAVLSGLGLSTLHLILAWQLNRGDAFLWKQLGANVLLFLCTNVIGICTHYPAEVSQR
QAFQETRGYIQARLHLQHENRQQERLLLSVLPQHVAMEMKEDINTKKEDMMFHKIYIQKHDNVSILFADIEGFTSLASQCTAQELVMTLNELFARFDKLAAENHC
LRIKILGDCYYCVSGLPEARADHAHCCVEMGVDMIEAISLVREVTGVNVNMRVGIHSGRVHCGVLGLRKWQFDVWSNDVTLANHMEAGGRAGRIHITRATLQYLN
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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) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 10 (3) |
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 |
---|---|---|---|---|
Yuen RK, 2016 | 200 | - | 301 | Genome-wide characteristics of de novo mutations in autism. |
Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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