Evidence Details for CECR5
Basic Information Top
| Gene Symbol: | CECR5 ( - ) |
|---|---|
| Gene Full Name: | cat eye syndrome chromosome region, candidate 5 |
| Band: | - |
| Quick Links | Entrez ID:27440; OMIM: NA; Uniprot ID:CECR5_HUMAN; ENSEMBL ID: ENSG00000069998; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CECR5|27440|nucleotide
ATGTATGCTTGGTTCTTTCTTCCCAGCTTCTCTCAGAGCCCACCCACCTTTGGGTTCCTGTTGGACATCGATGGAGTGCTTGTGCGGGGCCACAGAGTGATCCCT
GCTGCTCTGAAAGCCTTCCGAAGGCTGGTGAACTCCCAGGGGCAGCTGCGGGTGCCCGTGGTTTTTGTTACAAATGCTGGGAACATCTTACAACACAGCAAAGCC
CAGGAGCTGTCAGCCCTGCTGGGGTGCGAGGTGGATGCAGACCAAGTTATCCTCTCTCACAGCCCCATGAAGCTCTTCTCCGAGTACCATGAGAAGCGGATGCTG
GTGTCTGGACAGGGGCCCGTGATGGAAAATGCCCAGGGACTGGGCTTCCGAAATGTCGTCACCGTGGATGAGCTGCGGATGGCCTTTCCTCTGCTTGACATGGTG
GACCTGGAGCGGCGGCTAAAGACCACGCCCCTCCCGAGGAATGACTTCCCCCGCATTGAAGGGGTGCTCCTCCTAGGGGAGCCGGTCCGCTGGGAGACCAGCCTG
CAGCTGATCATGGATGTCCTCCTCAGCAATGGGAGCCCTGGGGCTGGCCTGGCAACACCCCCCTACCCCCACCTCCCCGTCCTAGCCAGCAACATGGATCTCCTG
TGGATGGCTGAAGCCAAGATGCCCAGGTTTGGACATGGCACCTTTCTGCTGTGCCTGGAAACCATTTACCAGAAAGTGACGGGCAAGGAGCTGAGATACGAGGGC
CTGATGGGCAAACCCAGCATCCTCACTTACCAGTATGCCGAGGACCTGATCAGGCGACAGGCGGAGAGGCGGGGCTGGGCCGCCCCCATCCGGAAGCTCTATGCT
GTGGGTGATAACCCTATGTCTGACGTATACGGCGCCAACCTGTTCCACCAGTACCTGCAGAAGGCAACGCATGATGGGGCGCCAGAACTAGGGGCCGGGGGCACA
CGGCAGCAACAGCCCTCAGCAAGCCAGAGCTGCATCTCCATCCTGGTGTGTACAGGCGTCTACAATCCCAGGAACCCACAGTCCACGGAGCCTGTCCTTGGAGGA
GGGGAGCCTCCATTCCACGGGCACCGAGACTTATGCTTCAGTCCAGGGCTCATGGAGGCCTCCCACGTGGTGAATGACGTGAATGAGGCTGTGCAGCTGGTCTTC
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ATGTATGCTTGGTTCTTTCTTCCCAGCTTCTCTCAGAGCCCACCCACCTTTGGGTTCCTGTTGGACATCGATGGAGTGCTTGTGCGGGGCCACAGAGTGATCCCT
GCTGCTCTGAAAGCCTTCCGAAGGCTGGTGAACTCCCAGGGGCAGCTGCGGGTGCCCGTGGTTTTTGTTACAAATGCTGGGAACATCTTACAACACAGCAAAGCC
CAGGAGCTGTCAGCCCTGCTGGGGTGCGAGGTGGATGCAGACCAAGTTATCCTCTCTCACAGCCCCATGAAGCTCTTCTCCGAGTACCATGAGAAGCGGATGCTG
GTGTCTGGACAGGGGCCCGTGATGGAAAATGCCCAGGGACTGGGCTTCCGAAATGTCGTCACCGTGGATGAGCTGCGGATGGCCTTTCCTCTGCTTGACATGGTG
GACCTGGAGCGGCGGCTAAAGACCACGCCCCTCCCGAGGAATGACTTCCCCCGCATTGAAGGGGTGCTCCTCCTAGGGGAGCCGGTCCGCTGGGAGACCAGCCTG
CAGCTGATCATGGATGTCCTCCTCAGCAATGGGAGCCCTGGGGCTGGCCTGGCAACACCCCCCTACCCCCACCTCCCCGTCCTAGCCAGCAACATGGATCTCCTG
TGGATGGCTGAAGCCAAGATGCCCAGGTTTGGACATGGCACCTTTCTGCTGTGCCTGGAAACCATTTACCAGAAAGTGACGGGCAAGGAGCTGAGATACGAGGGC
CTGATGGGCAAACCCAGCATCCTCACTTACCAGTATGCCGAGGACCTGATCAGGCGACAGGCGGAGAGGCGGGGCTGGGCCGCCCCCATCCGGAAGCTCTATGCT
GTGGGTGATAACCCTATGTCTGACGTATACGGCGCCAACCTGTTCCACCAGTACCTGCAGAAGGCAACGCATGATGGGGCGCCAGAACTAGGGGCCGGGGGCACA
CGGCAGCAACAGCCCTCAGCAAGCCAGAGCTGCATCTCCATCCTGGTGTGTACAGGCGTCTACAATCCCAGGAACCCACAGTCCACGGAGCCTGTCCTTGGAGGA
GGGGAGCCTCCATTCCACGGGCACCGAGACTTATGCTTCAGTCCAGGGCTCATGGAGGCCTCCCACGTGGTGAATGACGTGAATGAGGCTGTGCAGCTGGTCTTC
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>CECR5|27440|protein
MYAWFFLPSFSQSPPTFGFLLDIDGVLVRGHRVIPAALKAFRRLVNSQGQLRVPVVFVTNAGNILQHSKAQELSALLGCEVDADQVILSHSPMKLFSEYHEKRML
VSGQGPVMENAQGLGFRNVVTVDELRMAFPLLDMVDLERRLKTTPLPRNDFPRIEGVLLLGEPVRWETSLQLIMDVLLSNGSPGAGLATPPYPHLPVLASNMDLL
WMAEAKMPRFGHGTFLLCLETIYQKVTGKELRYEGLMGKPSILTYQYAEDLIRRQAERRGWAAPIRKLYAVGDNPMSDVYGANLFHQYLQKATHDGAPELGAGGT
RQQQPSASQSCISILVCTGVYNPRNPQSTEPVLGGGEPPFHGHRDLCFSPGLMEASHVVNDVNEAVQLVFRKEGWALE
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MYAWFFLPSFSQSPPTFGFLLDIDGVLVRGHRVIPAALKAFRRLVNSQGQLRVPVVFVTNAGNILQHSKAQELSALLGCEVDADQVILSHSPMKLFSEYHEKRML
VSGQGPVMENAQGLGFRNVVTVDELRMAFPLLDMVDLERRLKTTPLPRNDFPRIEGVLLLGEPVRWETSLQLIMDVLLSNGSPGAGLATPPYPHLPVLASNMDLL
WMAEAKMPRFGHGTFLLCLETIYQKVTGKELRYEGLMGKPSILTYQYAEDLIRRQAERRGWAAPIRKLYAVGDNPMSDVYGANLFHQYLQKATHDGAPELGAGGT
RQQQPSASQSCISILVCTGVYNPRNPQSTEPVLGGGEPPFHGHRDLCFSPGLMEASHVVNDVNEAVQLVFRKEGWALE
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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