Evidence Details for CNIH3
Basic Information Top
| Gene Symbol: | CNIH3 ( CNIH-3,FLJ38993 ) |
|---|---|
| Gene Full Name: | cornichon homolog 3 (Drosophila) |
| Band: | 1q42.12 |
| Quick Links | Entrez ID:149111; OMIM: NA; Uniprot ID:CNIH3_HUMAN; ENSEMBL ID: ENSG00000143786; HGNC ID: 26802 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CNIH3|149111|nucleotide
ATGGCCTTCACTTTCGCTGCGTTCTGCTACATGCTGTCTCTGGTGCTGTGCGCTGCGCTCATCTTCTTCGCCATCTGGCACATAATTGCCTTTGATGAGTTAAGG
ACAGATTTTAAGAGCCCCATAGACCAGTGCAATCCTGTTCATGCGAGGGAACGGTTGAGGAACATCGAGCGCATCTGCTTCCTTCTGCGAAAGCTGGTGCTGCCA
GAATACTCCATCCATAGCCTCTTCTGCATTATGTTCCTGTGTGCGCAAGAGTGGCTCACGCTGGGGCTGAATGTCCCTCTACTTTTCTATCACTTCTGGAGGTAT
TTCCACTGTCCAGCAGATAGCTCAGAACTAGCCTACGACCCACCGGTGGTCATGAATGCCGACACTTTGAGTTACTGTCAGAAGGAGGCCTGGTGTAAGCTGGCC
TTCTATCTCCTCTCCTTCTTCTACTACCTTTACTGCATGATCTACACTTTAGTGAGCTCTTAA
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ATGGCCTTCACTTTCGCTGCGTTCTGCTACATGCTGTCTCTGGTGCTGTGCGCTGCGCTCATCTTCTTCGCCATCTGGCACATAATTGCCTTTGATGAGTTAAGG
ACAGATTTTAAGAGCCCCATAGACCAGTGCAATCCTGTTCATGCGAGGGAACGGTTGAGGAACATCGAGCGCATCTGCTTCCTTCTGCGAAAGCTGGTGCTGCCA
GAATACTCCATCCATAGCCTCTTCTGCATTATGTTCCTGTGTGCGCAAGAGTGGCTCACGCTGGGGCTGAATGTCCCTCTACTTTTCTATCACTTCTGGAGGTAT
TTCCACTGTCCAGCAGATAGCTCAGAACTAGCCTACGACCCACCGGTGGTCATGAATGCCGACACTTTGAGTTACTGTCAGAAGGAGGCCTGGTGTAAGCTGGCC
TTCTATCTCCTCTCCTTCTTCTACTACCTTTACTGCATGATCTACACTTTAGTGAGCTCTTAA
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>CNIH3|149111|protein
MAFTFAAFCYMLSLVLCAALIFFAIWHIIAFDELRTDFKSPIDQCNPVHARERLRNIERICFLLRKLVLPEYSIHSLFCIMFLCAQEWLTLGLNVPLLFYHFWRY
FHCPADSSELAYDPPVVMNADTLSYCQKEAWCKLAFYLLSFFYYLYCMIYTLVSS
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MAFTFAAFCYMLSLVLCAALIFFAIWHIIAFDELRTDFKSPIDQCNPVHARERLRNIERICFLLRKLVLPEYSIHSLFCIMFLCAQEWLTLGLNVPLLFYHFWRY
FHCPADSSELAYDPPVVMNADTLSYCQKEAWCKLAFYLLSFFYYLYCMIYTLVSS
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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 | 0 (0) | 0 (0) | 1 (1) | 1 (1) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 4 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Buxbaum, 2004 | USA | microsatellite-based genomic screen |  |  | autism | 115 | - | 115 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 1
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Maussion, 2008_1 | AGRE | SNPlex oligoligation assays | 116 | - (-) | | | AD | - - |
- - | |
Case Control Based Association Studies: 0
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | |||||||||||
Large Scale Expression Studies TopNGS 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. |
NGS 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.