Evidence Details for CNBD1
Basic Information Top
Gene Symbol: | CNBD1 ( FLJ35802 ) |
---|---|
Gene Full Name: | cyclic nucleotide binding domain containing 1 |
Band: | 8q21.3 |
Quick Links | Entrez ID:168975; OMIM: NA; Uniprot ID:CNBD1_HUMAN; ENSEMBL ID: ENSG00000176571; HGNC ID: 26663 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>CNBD1|168975|nucleotide
ATGCCGATGTCTTCTCTTCCAGCAGCTATTTTGTCTCACATGACAGCTATTAACAATGTGCCTCCTCCTCCACTTCACAGTATACCAAACTTGAAAAAGTCTAAG
CACATTAATTATGGCCAGTTGAATGCATTATGCCACATTAGAGGACAACACAGCCGGAGTATGAGCAATATCTTATCAGCTCACGATACATTTATGAAGCAATAT
CCTAAAGTATTCCTGCACCAAAAACCCAGACTTCCTAAACTTTTCAAACAGGAGGAACAAAGGGAACTCAATGAAGGCAAAGAGGAAAGTCAACATCAACAACCT
GATGATTCTAACAATATAGCTGTCCATGTTCAGAGAGCACATGGTGGCCATATTTTATATAGACCAAAAAGAGCCACAGAGAAATTTGAAGAATTCCTAGCTATC
TTAAAGAAATTGCCCATTCACAGGACGCCATATGAACACAAAACTGTGTGGAAGTTCCTGAAAACAATTCCAGATTTAACCTTTCAGCTAAATGATAAGCATCTG
AAAACACTTAGTAAGACTGTCTTTTCCGAAACCTGGTTGAAAGGCAGCACAGTGGTTGCAAATGATGGATTTTATGTAATACTGAAAGGCCTAGCTCGACCTCAA
ACAAACGTGTATAAAAATCTGATTGAAGGAAGTGATTCACCAGACTCGTTCATATCTCAGAGTTTCCACAGCTTCATTTGGAGTGAAGAATTCAAAAACTCTACA
CTTGCTGAGATGTACCTACCTTCATATGACTCAATGCTTAGCAAATGGAGTACCTTTGGGACTCTGGAAGTTATGCCTCAGAATGAATCGGAAACACAGATGTTC
TCGGTGGTGACAGAAGACGATTGTGAAATTCTTAAAATCCCAGCAAAGGGATATGCAAAGATAAAGGAGGAAAAAATAAAACTTGAAAATATGCAAAAGTTGAAA
TTAATCCGTATGTGTCCTTATTATGAGGAATGGCCTACTTTATCCATATATGAGCTAATTGCACTCCTTAAATGGAAAAAATTTCCTCCAGGTCATGTGATAGTG
GAAAGTGGAAATATAATTTCTTTTGTGGGTTATATTAACTCTGGATGCTGTAACATTTATAGAAGTATTATAGGATTTGTGAAACTACGATCAAATAAAGTGAAA
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ATGCCGATGTCTTCTCTTCCAGCAGCTATTTTGTCTCACATGACAGCTATTAACAATGTGCCTCCTCCTCCACTTCACAGTATACCAAACTTGAAAAAGTCTAAG
CACATTAATTATGGCCAGTTGAATGCATTATGCCACATTAGAGGACAACACAGCCGGAGTATGAGCAATATCTTATCAGCTCACGATACATTTATGAAGCAATAT
CCTAAAGTATTCCTGCACCAAAAACCCAGACTTCCTAAACTTTTCAAACAGGAGGAACAAAGGGAACTCAATGAAGGCAAAGAGGAAAGTCAACATCAACAACCT
GATGATTCTAACAATATAGCTGTCCATGTTCAGAGAGCACATGGTGGCCATATTTTATATAGACCAAAAAGAGCCACAGAGAAATTTGAAGAATTCCTAGCTATC
TTAAAGAAATTGCCCATTCACAGGACGCCATATGAACACAAAACTGTGTGGAAGTTCCTGAAAACAATTCCAGATTTAACCTTTCAGCTAAATGATAAGCATCTG
AAAACACTTAGTAAGACTGTCTTTTCCGAAACCTGGTTGAAAGGCAGCACAGTGGTTGCAAATGATGGATTTTATGTAATACTGAAAGGCCTAGCTCGACCTCAA
ACAAACGTGTATAAAAATCTGATTGAAGGAAGTGATTCACCAGACTCGTTCATATCTCAGAGTTTCCACAGCTTCATTTGGAGTGAAGAATTCAAAAACTCTACA
CTTGCTGAGATGTACCTACCTTCATATGACTCAATGCTTAGCAAATGGAGTACCTTTGGGACTCTGGAAGTTATGCCTCAGAATGAATCGGAAACACAGATGTTC
TCGGTGGTGACAGAAGACGATTGTGAAATTCTTAAAATCCCAGCAAAGGGATATGCAAAGATAAAGGAGGAAAAAATAAAACTTGAAAATATGCAAAAGTTGAAA
TTAATCCGTATGTGTCCTTATTATGAGGAATGGCCTACTTTATCCATATATGAGCTAATTGCACTCCTTAAATGGAAAAAATTTCCTCCAGGTCATGTGATAGTG
GAAAGTGGAAATATAATTTCTTTTGTGGGTTATATTAACTCTGGATGCTGTAACATTTATAGAAGTATTATAGGATTTGTGAAACTACGATCAAATAAAGTGAAA
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>CNBD1|168975|protein
MPMSSLPAAILSHMTAINNVPPPPLHSIPNLKKSKHINYGQLNALCHIRGQHSRSMSNILSAHDTFMKQYPKVFLHQKPRLPKLFKQEEQRELNEGKEESQHQQP
DDSNNIAVHVQRAHGGHILYRPKRATEKFEEFLAILKKLPIHRTPYEHKTVWKFLKTIPDLTFQLNDKHLKTLSKTVFSETWLKGSTVVANDGFYVILKGLARPQ
TNVYKNLIEGSDSPDSFISQSFHSFIWSEEFKNSTLAEMYLPSYDSMLSKWSTFGTLEVMPQNESETQMFSVVTEDDCEILKIPAKGYAKIKEEKIKLENMQKLK
LIRMCPYYEEWPTLSIYELIALLKWKKFPPGHVIVESGNIISFVGYINSGCCNIYRSIIGFVKLRSNKVKRSQKLVYMGKLKEKESFGEISVLLQVPFTCTIITK
KEVEMAIIEDKDLFVA
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MPMSSLPAAILSHMTAINNVPPPPLHSIPNLKKSKHINYGQLNALCHIRGQHSRSMSNILSAHDTFMKQYPKVFLHQKPRLPKLFKQEEQRELNEGKEESQHQQP
DDSNNIAVHVQRAHGGHILYRPKRATEKFEEFLAILKKLPIHRTPYEHKTVWKFLKTIPDLTFQLNDKHLKTLSKTVFSETWLKGSTVVANDGFYVILKGLARPQ
TNVYKNLIEGSDSPDSFISQSFHSFIWSEEFKNSTLAEMYLPSYDSMLSKWSTFGTLEVMPQNESETQMFSVVTEDDCEILKIPAKGYAKIKEEKIKLENMQKLK
LIRMCPYYEEWPTLSIYELIALLKWKKFPPGHVIVESGNIISFVGYINSGCCNIYRSIIGFVKLRSNKVKRSQKLVYMGKLKEKESFGEISVLLQVPFTCTIITK
KEVEMAIIEDKDLFVA
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Evidence summary Top
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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 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (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 | ||||||
Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
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 |
---|---|---|---|---|
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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