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 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 | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (2) |
Syndromic Autism Gene Top
Genome-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 Top



