Evidence Details for CECR6
Basic Information Top
| Gene Symbol: | CECR6 ( - ) |
|---|---|
| Gene Full Name: | cat eye syndrome chromosome region, candidate 6 |
| Band: | - |
| Quick Links | Entrez ID:27439; OMIM: NA; Uniprot ID:CECR6_HUMAN; ENSEMBL ID: ENSG00000183307; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CECR6|27439|nucleotide
ATGGCGCTGTCGGTGCCCCTGCTCTACAGCTTGGTGCGGGCCATCAGCGAGGCGGGCGCGCCCCCGGGATCGGCAGGACCCCTGCTGCTGCAGCCCCAGCGGCAC
CGCGCGGCCGGATGCTTCCTGGGCACGTGCTTGGACCTGCTCGACAGCTTCACGCTGGTGGAGCTGATGCTGGAGGGCCGCGTGCCGCTGCCCGCGCACCTGCGC
TACCTGCTTATCGCCGTCTACTTCCTCACCCTCGCCTCGCCGGTGCTCTGGCTCTACGAGCTCAACGCCGCGGCCGCAGCGGCTGCATCCTGGGGCCAGGCCTCC
GGGCCTGGCAGCTGCAGCCGCCTTCTGCGCCTGCTGGGCGGCTGCCTGGTGGACGTGCCCTTGCTGGCGCTGCGCTGCCTCCTGGTGGTCAGCTACCAGCAGCCC
CTCTCCATCTTCATGCTCAAGAACCTCTTCTTCCTCGGCTGCCGGGGCCTGGAGGCCCTGGAGGGCTGCTGGGACCGGGGCAATCGGGCCTCCCCGAGTCGGGCC
AGAGGGGGCTACGGTGCTCCGCCCTCCGCCCCTCCACCACCTCCGCCACCACCTCAGGGAGGCTCCCAGCTGGGCCACTGCATCTCGGAGAACGAGGGGGGTGCT
CATGGCTATGTCAACACCCTGGCTGTGGCCTCTCAGAATTGA
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ATGGCGCTGTCGGTGCCCCTGCTCTACAGCTTGGTGCGGGCCATCAGCGAGGCGGGCGCGCCCCCGGGATCGGCAGGACCCCTGCTGCTGCAGCCCCAGCGGCAC
CGCGCGGCCGGATGCTTCCTGGGCACGTGCTTGGACCTGCTCGACAGCTTCACGCTGGTGGAGCTGATGCTGGAGGGCCGCGTGCCGCTGCCCGCGCACCTGCGC
TACCTGCTTATCGCCGTCTACTTCCTCACCCTCGCCTCGCCGGTGCTCTGGCTCTACGAGCTCAACGCCGCGGCCGCAGCGGCTGCATCCTGGGGCCAGGCCTCC
GGGCCTGGCAGCTGCAGCCGCCTTCTGCGCCTGCTGGGCGGCTGCCTGGTGGACGTGCCCTTGCTGGCGCTGCGCTGCCTCCTGGTGGTCAGCTACCAGCAGCCC
CTCTCCATCTTCATGCTCAAGAACCTCTTCTTCCTCGGCTGCCGGGGCCTGGAGGCCCTGGAGGGCTGCTGGGACCGGGGCAATCGGGCCTCCCCGAGTCGGGCC
AGAGGGGGCTACGGTGCTCCGCCCTCCGCCCCTCCACCACCTCCGCCACCACCTCAGGGAGGCTCCCAGCTGGGCCACTGCATCTCGGAGAACGAGGGGGGTGCT
CATGGCTATGTCAACACCCTGGCTGTGGCCTCTCAGAATTGA
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>CECR6|27439|protein
MALSVPLLYSLVRAISEAGAPPGSAGPLLLQPQRHRAAGCFLGTCLDLLDSFTLVELMLEGRVPLPAHLRYLLIAVYFLTLASPVLWLYELNAAAAAAASWGQAS
GPGSCSRLLRLLGGCLVDVPLLALRCLLVVSYQQPLSIFMLKNLFFLGCRGLEALEGCWDRGNRASPSRARGGYGAPPSAPPPPPPPPQGGSQLGHCISENEGGA
HGYVNTLAVASQN
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MALSVPLLYSLVRAISEAGAPPGSAGPLLLQPQRHRAAGCFLGTCLDLLDSFTLVELMLEGRVPLPAHLRYLLIAVYFLTLASPVLWLYELNAAAAAAASWGQAS
GPGSCSRLLRLLGGCLVDVPLLALRCLLVVSYQQPLSIFMLKNLFFLGCRGLEALEGCWDRGNRASPSRARGGYGAPPSAPPPPPPPPQGGSQLGHCISENEGGA
HGYVNTLAVASQN
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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) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Roubertie, 2001 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Niklasson, 2002 | Sweden | FISH | | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top