Evidence Details for APCDD1
Basic Information Top
| Gene Symbol: | APCDD1 ( B7323,DRAPC1 ) |
|---|---|
| Gene Full Name: | adenomatosis polyposis coli down-regulated 1 |
| Band: | 18p11.22 |
| Quick Links | Entrez ID:147495; OMIM: 607479; Uniprot ID:APCD1_HUMAN; ENSEMBL ID: ENSG00000154856; HGNC ID: 15718 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>APCDD1|147495|nucleotide
ATGTCCTGGCCGCGCCGCCTCCTGCTCAGATACCTGTTCCCGGCCCTCCTGCTTCACGGGCTGGGAGAGGGTTCTGCCCTCCTTCATCCAGACAGCAGGTCTCAT
CCTAGGTCCTTAGAGAAAAGTGCCTGGAGGGCTTTTAAGGAGTCACAGTGCCATCACATGCTCAAACATCTCCACAATGGTGCAAGGATCACAGTGCAGATGCCA
CCTACAATCGAGGGCCACTGGGTCTCCACAGGCTGTGAAGTAAGGTCAGGCCCAGAGTTCATCACAAGGTCCTACAGATTCTACCACAATAACACCTTCAAGGCC
TACCAATTTTATTATGGCAGCAACCGGTGCACAAATCCCACTTATACTCTCATCATCCGGGGCAAGATCCGCCTCCGCCAGGCCTCCTGGATCATCCGAGGGGGC
ACGGAAGCCGACTACCAGCTGCACAACGTCCAGGTGATCTGCCACACAGAGGCGGTGGCCGAGAAGCTCGGCCAGCAGGTGAACCGCACATGCCCGGGCTTCCTC
GCAGACGGGGGTCCCTGGGTGCAGGACGTGGCCTATGACCTCTGGCGAGAGGAGAACGGCTGTGAGTGCACCAAGGCCGTGAACTTTGCCATGCATGAACTTCAG
CTCATCCGGGTGGAGAAGCAGTACCTTCACCACAACCTCGACCACCTGGTCGAGGAGCTCTTCCTTGGTGACATTCACACTGATGCCACCCAGAGGATGTTCTAC
CGGCCCTCCAGTTACCAGCCCCCTCTGCAGAATGCCAAGAACCACGACCATGCCTGCATCGCCTGTCGGATCATCTATCGGTCAGACGAGCACCACCCTCCCATC
CTGCCCCCAAAGGCAGACCTGACCATCGGCCTGCACGGGGAGTGGGTGAGCCAGCGCTGTGAGGTGCGCCCCGAAGTCCTCTTCCTCACCCGCCACTTCATCTTC
CATGACAACAACAACACCTGGGAGGGCCACTACTACCACTACTCAGACCCGGTGTGCAAGCACCCCACCTTCTCCATCTACGCCCGGGGCCGCTACAGCCGCGGC
GTCCTCTCGTCCAGGGTCATGGGAGGCACCGAGTTCGTGTTCAAAGTGAATCACATGAAGGTCACCCCCATGGATGCGGCCACAGCCTCACTGCTCAACGTCTTC
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ATGTCCTGGCCGCGCCGCCTCCTGCTCAGATACCTGTTCCCGGCCCTCCTGCTTCACGGGCTGGGAGAGGGTTCTGCCCTCCTTCATCCAGACAGCAGGTCTCAT
CCTAGGTCCTTAGAGAAAAGTGCCTGGAGGGCTTTTAAGGAGTCACAGTGCCATCACATGCTCAAACATCTCCACAATGGTGCAAGGATCACAGTGCAGATGCCA
CCTACAATCGAGGGCCACTGGGTCTCCACAGGCTGTGAAGTAAGGTCAGGCCCAGAGTTCATCACAAGGTCCTACAGATTCTACCACAATAACACCTTCAAGGCC
TACCAATTTTATTATGGCAGCAACCGGTGCACAAATCCCACTTATACTCTCATCATCCGGGGCAAGATCCGCCTCCGCCAGGCCTCCTGGATCATCCGAGGGGGC
ACGGAAGCCGACTACCAGCTGCACAACGTCCAGGTGATCTGCCACACAGAGGCGGTGGCCGAGAAGCTCGGCCAGCAGGTGAACCGCACATGCCCGGGCTTCCTC
GCAGACGGGGGTCCCTGGGTGCAGGACGTGGCCTATGACCTCTGGCGAGAGGAGAACGGCTGTGAGTGCACCAAGGCCGTGAACTTTGCCATGCATGAACTTCAG
CTCATCCGGGTGGAGAAGCAGTACCTTCACCACAACCTCGACCACCTGGTCGAGGAGCTCTTCCTTGGTGACATTCACACTGATGCCACCCAGAGGATGTTCTAC
CGGCCCTCCAGTTACCAGCCCCCTCTGCAGAATGCCAAGAACCACGACCATGCCTGCATCGCCTGTCGGATCATCTATCGGTCAGACGAGCACCACCCTCCCATC
CTGCCCCCAAAGGCAGACCTGACCATCGGCCTGCACGGGGAGTGGGTGAGCCAGCGCTGTGAGGTGCGCCCCGAAGTCCTCTTCCTCACCCGCCACTTCATCTTC
CATGACAACAACAACACCTGGGAGGGCCACTACTACCACTACTCAGACCCGGTGTGCAAGCACCCCACCTTCTCCATCTACGCCCGGGGCCGCTACAGCCGCGGC
GTCCTCTCGTCCAGGGTCATGGGAGGCACCGAGTTCGTGTTCAAAGTGAATCACATGAAGGTCACCCCCATGGATGCGGCCACAGCCTCACTGCTCAACGTCTTC
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>APCDD1|147495|protein
MSWPRRLLLRYLFPALLLHGLGEGSALLHPDSRSHPRSLEKSAWRAFKESQCHHMLKHLHNGARITVQMPPTIEGHWVSTGCEVRSGPEFITRSYRFYHNNTFKA
YQFYYGSNRCTNPTYTLIIRGKIRLRQASWIIRGGTEADYQLHNVQVICHTEAVAEKLGQQVNRTCPGFLADGGPWVQDVAYDLWREENGCECTKAVNFAMHELQ
LIRVEKQYLHHNLDHLVEELFLGDIHTDATQRMFYRPSSYQPPLQNAKNHDHACIACRIIYRSDEHHPPILPPKADLTIGLHGEWVSQRCEVRPEVLFLTRHFIF
HDNNNTWEGHYYHYSDPVCKHPTFSIYARGRYSRGVLSSRVMGGTEFVFKVNHMKVTPMDAATASLLNVFNGNECGAEGSWQVGIQQDVTHTNGCVALGIKLPHT
EYEIFKMEQDARGRYLLFNGQRPSDGSSPDRPEKRATSYQMPLVQCASSSPRAEDLAEDSGSSLYGRAPGRHTWSLLLAALACLVPLLHWNIRR
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MSWPRRLLLRYLFPALLLHGLGEGSALLHPDSRSHPRSLEKSAWRAFKESQCHHMLKHLHNGARITVQMPPTIEGHWVSTGCEVRSGPEFITRSYRFYHNNTFKA
YQFYYGSNRCTNPTYTLIIRGKIRLRQASWIIRGGTEADYQLHNVQVICHTEAVAEKLGQQVNRTCPGFLADGGPWVQDVAYDLWREENGCECTKAVNFAMHELQ
LIRVEKQYLHHNLDHLVEELFLGDIHTDATQRMFYRPSSYQPPLQNAKNHDHACIACRIIYRSDEHHPPILPPKADLTIGLHGEWVSQRCEVRPEVLFLTRHFIF
HDNNNTWEGHYYHYSDPVCKHPTFSIYARGRYSRGVLSSRVMGGTEFVFKVNHMKVTPMDAATASLLNVFNGNECGAEGSWQVGIQQDVTHTNGCVALGIKLPHT
EYEIFKMEQDARGRYLLFNGQRPSDGSSPDRPEKRATSYQMPLVQCASSSPRAEDLAEDSGSSLYGRAPGRHTWSLLLAALACLVPLLHWNIRR
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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 | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (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 | |||||||||||
| Ma, 2009_1 | Discovery | Illumina's Human 1M v1 Beadchip | 438 | - (-) |  |  | 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 Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Cusco, 2008 | Spanish | aCGH | | | ASD | - | - | - | - | 96 | 100 | 196 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.