Evidence Details for CNPY3
Basic Information Top
Gene Symbol: | CNPY3 ( CAG4A,ERDA5,PRAT4A,TNRC5 ) |
---|---|
Gene Full Name: | canopy 3 homolog (zebrafish) |
Band: | 6p21.1 |
Quick Links | Entrez ID:10695; OMIM: 610774; Uniprot ID:CNPY3_HUMAN; ENSEMBL ID: ENSG00000137161; HGNC ID: 11968 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>CNPY3|10695|nucleotide
ATGGATTCAATGCCTGAGCCCGCGTCCCGCTGTCTTCTGCTTCTTCCCTTGCTGCTGCTGCTGCTGCTGCTGCTGCCGGCCCCGGAGCTGGGCCCGAGCCAGGCC
GGAGCTGAGGAGAACGACTGGGTTCGCCTGCCCAGCAAATGCGAAGTGTGTAAATATGTTGCTGTGGAGCTGAAGTCAGCCTTTGAGGAAACCGGCAAGACCAAG
GAGGTGATTGGCACGGGCTATGGCATCCTGGACCAGAAGGCCTCTGGAGTCAAATACACCAAGTCGGACTTGCGGTTAATCGAAGTCACTGAGACCATTTGCAAG
AGGCTCCTGGATTATAGCCTGCACAAGGAGAGGACCGGCAGCAATCGATTTGCCAAGGGCATGTCAGAGACCTTTGAGACATTACACAACCTGGTACACAAAGGG
GTCAAGGTGGTGATGGACATCCCCTATGAGCTGTGGAACGAGACTTCTGCAGAGGTGGCTGACCTCAAGAAGCAGTGTGATGTGCTGGTGGAAGAGTTTGAGGAG
GTGATCGAGGACTGGTACAGGAACCACCAGGAGGAAGACCTGACTGAATTCCTCTGCGCCAACCACGTGCTGAAGGGAAAAGACACCAGTTGCCTGGCAGAGCAG
TGGTCCGGCAAGAAGGGAGACACAGCTGCCCTGGGAGGGAAGAAGTCCAAGAAGAAGAGCAGCAGGGCCAAGGCAGCAGGCGGCAGGAGTAGCAGCAGCAAACAA
AGGAAGGAGCTGGGTGGCCTTGAGGGAGACCCCAGCCCCGAGGAGGATGAGGGCATCCAGAAGGCATCCCCTCTCACACACAGCCCCCCTGATGAGCTCTGA
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ATGGATTCAATGCCTGAGCCCGCGTCCCGCTGTCTTCTGCTTCTTCCCTTGCTGCTGCTGCTGCTGCTGCTGCTGCCGGCCCCGGAGCTGGGCCCGAGCCAGGCC
GGAGCTGAGGAGAACGACTGGGTTCGCCTGCCCAGCAAATGCGAAGTGTGTAAATATGTTGCTGTGGAGCTGAAGTCAGCCTTTGAGGAAACCGGCAAGACCAAG
GAGGTGATTGGCACGGGCTATGGCATCCTGGACCAGAAGGCCTCTGGAGTCAAATACACCAAGTCGGACTTGCGGTTAATCGAAGTCACTGAGACCATTTGCAAG
AGGCTCCTGGATTATAGCCTGCACAAGGAGAGGACCGGCAGCAATCGATTTGCCAAGGGCATGTCAGAGACCTTTGAGACATTACACAACCTGGTACACAAAGGG
GTCAAGGTGGTGATGGACATCCCCTATGAGCTGTGGAACGAGACTTCTGCAGAGGTGGCTGACCTCAAGAAGCAGTGTGATGTGCTGGTGGAAGAGTTTGAGGAG
GTGATCGAGGACTGGTACAGGAACCACCAGGAGGAAGACCTGACTGAATTCCTCTGCGCCAACCACGTGCTGAAGGGAAAAGACACCAGTTGCCTGGCAGAGCAG
TGGTCCGGCAAGAAGGGAGACACAGCTGCCCTGGGAGGGAAGAAGTCCAAGAAGAAGAGCAGCAGGGCCAAGGCAGCAGGCGGCAGGAGTAGCAGCAGCAAACAA
AGGAAGGAGCTGGGTGGCCTTGAGGGAGACCCCAGCCCCGAGGAGGATGAGGGCATCCAGAAGGCATCCCCTCTCACACACAGCCCCCCTGATGAGCTCTGA
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>CNPY3|10695|protein
MDSMPEPASRCLLLLPLLLLLLLLLPAPELGPSQAGAEENDWVRLPSKCEVCKYVAVELKSAFEETGKTKEVIGTGYGILDQKASGVKYTKSDLRLIEVTETICK
RLLDYSLHKERTGSNRFAKGMSETFETLHNLVHKGVKVVMDIPYELWNETSAEVADLKKQCDVLVEEFEEVIEDWYRNHQEEDLTEFLCANHVLKGKDTSCLAEQ
WSGKKGDTAALGGKKSKKKSSRAKAAGGRSSSSKQRKELGGLEGDPSPEEDEGIQKASPLTHSPPDEL
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MDSMPEPASRCLLLLPLLLLLLLLLPAPELGPSQAGAEENDWVRLPSKCEVCKYVAVELKSAFEETGKTKEVIGTGYGILDQKASGVKYTKSDLRLIEVTETICK
RLLDYSLHKERTGSNRFAKGMSETFETLHNLVHKGVKVVMDIPYELWNETSAEVADLKKQCDVLVEEFEEVIEDWYRNHQEEDLTEFLCANHVLKGKDTSCLAEQ
WSGKKGDTAALGGKKSKKKSSRAKAAGGRSSSSKQRKELGGLEGDPSPEEDEGIQKASPLTHSPPDEL
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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) | 1 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 3 (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 | ||||||
Berkel, 2010 | Canada | SNP microarray | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Gregg, 2008_3 | mixed | lymphoblastoid cell lines | 18 (16.67%) | autism with regression | autism | 12 (25.00%) |
1.577 | Up | 0.0333 | |||
|
Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
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
Low Scale Gene Studies Top
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