Evidence Details for CECR2
Basic Information Top
| Gene Symbol: | CECR2 ( KIAA1740 ) |
|---|---|
| Gene Full Name: | cat eye syndrome chromosome region, candidate 2 |
| Band: | 22q11.1-q11.21 |
| Quick Links | Entrez ID:27443; OMIM: 607576; Uniprot ID:CECR2_HUMAN; ENSEMBL ID: ENSG00000099954; HGNC ID: 1840 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CECR2|27443|nucleotide
ATGTGCCCAGAGGAGGGCGGCGCGGCCGGGCTGGGCGAGCTCCGCTCCTGGTGGGAGGTCCCGGCCATCGCGCACTTCTGCTCGCTCTTTCGCACCGCGTTCCGC
CTGCCCGACTTCGAGATCGAGGAGTTAGAAGCCGCTCTTCACAGAGATGACGTGGAGTTTATCAGTGACCTGATTGCCTGCCTGCTTCAGGGCTGCTATCAACGA
AGAGATATCACGCCTCAGACATTCCACAGCTACCTAGAGGACATCATCAACTACCGCTGGGAGCTCGAAGAAGGGAAGCCCAACCCTCTGAGGGAAGCCAGTTTC
CAGGACCTGCCTCTTCGCACACGGGTGGAGATCCTGCACCGACTCTGTGATTACCGGCTGGATGCAGACGATGTCTTCGATCTTCTAAAGGGCCTGGATGCAGAC
AGTCTCCGTGTGGAGCCATTGGGTGAAGACAATTCTGGGGCACTATATTGGTATTTCTATGGAACACGAATGTACAAAGAGGACCCGGTGCAAGGAAAATCCAAT
GGAGAACTCTCTTTGAGCAGGGAAAGTGAAGGACAAAAAAATGTCTCAAGTATTCCTGGAAAAACGGGAAAAAGAAGAGGAAGACCCCCAAAACGGAAGAAACTG
CAGGAGGAGATTCTGTTGAGTGAAAAGCAGGAAGAAAATTCCTTGGCATCCGAGCCACAGACAAGACATGGGTCCCAAGGGCCAGGCCAAGGTACTTGGTGGCTC
CTGTGCCAGACAGAAGAGGAATGGAGACAGGTCACCGAGAGTTTTCGCGAGAGGACCTCCCTTCGAGAACGGCAGCTCTACAAGCTCCTCAGTGAGGACTTCCTG
CCTGAGATCTGCAACATGATCGCCCAGAAGGGAAAACGTCCACAGCGCACAAAGGCAGAGTTGCATCCTAGGTGGATGTCTGACCACCTGTCCATCAAACCCGTC
AAGCAAGAGGAGACTCCTGTGCTGACCAGAATAGAAAAACAAAAGCGCAAAGAGGAGGAAGAAGAGCGTCAGATTCTTCTAGCAGTGCAGAAGAAGGAGCAGGAG
CAGATGCTAAAGGAAGAGAGGAAACGCGAGTTGGAGGAGAAGGTCAAGGCAGTGGAAGGTATGTGCAGTGTCCGCGTGGTCTGGAGAGGTGCATGTCTGTCGACC
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ATGTGCCCAGAGGAGGGCGGCGCGGCCGGGCTGGGCGAGCTCCGCTCCTGGTGGGAGGTCCCGGCCATCGCGCACTTCTGCTCGCTCTTTCGCACCGCGTTCCGC
CTGCCCGACTTCGAGATCGAGGAGTTAGAAGCCGCTCTTCACAGAGATGACGTGGAGTTTATCAGTGACCTGATTGCCTGCCTGCTTCAGGGCTGCTATCAACGA
AGAGATATCACGCCTCAGACATTCCACAGCTACCTAGAGGACATCATCAACTACCGCTGGGAGCTCGAAGAAGGGAAGCCCAACCCTCTGAGGGAAGCCAGTTTC
CAGGACCTGCCTCTTCGCACACGGGTGGAGATCCTGCACCGACTCTGTGATTACCGGCTGGATGCAGACGATGTCTTCGATCTTCTAAAGGGCCTGGATGCAGAC
AGTCTCCGTGTGGAGCCATTGGGTGAAGACAATTCTGGGGCACTATATTGGTATTTCTATGGAACACGAATGTACAAAGAGGACCCGGTGCAAGGAAAATCCAAT
GGAGAACTCTCTTTGAGCAGGGAAAGTGAAGGACAAAAAAATGTCTCAAGTATTCCTGGAAAAACGGGAAAAAGAAGAGGAAGACCCCCAAAACGGAAGAAACTG
CAGGAGGAGATTCTGTTGAGTGAAAAGCAGGAAGAAAATTCCTTGGCATCCGAGCCACAGACAAGACATGGGTCCCAAGGGCCAGGCCAAGGTACTTGGTGGCTC
CTGTGCCAGACAGAAGAGGAATGGAGACAGGTCACCGAGAGTTTTCGCGAGAGGACCTCCCTTCGAGAACGGCAGCTCTACAAGCTCCTCAGTGAGGACTTCCTG
CCTGAGATCTGCAACATGATCGCCCAGAAGGGAAAACGTCCACAGCGCACAAAGGCAGAGTTGCATCCTAGGTGGATGTCTGACCACCTGTCCATCAAACCCGTC
AAGCAAGAGGAGACTCCTGTGCTGACCAGAATAGAAAAACAAAAGCGCAAAGAGGAGGAAGAAGAGCGTCAGATTCTTCTAGCAGTGCAGAAGAAGGAGCAGGAG
CAGATGCTAAAGGAAGAGAGGAAACGCGAGTTGGAGGAGAAGGTCAAGGCAGTGGAAGGTATGTGCAGTGTCCGCGTGGTCTGGAGAGGTGCATGTCTGTCGACC
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>CECR2|27443|protein
MCPEEGGAAGLGELRSWWEVPAIAHFCSLFRTAFRLPDFEIEELEAALHRDDVEFISDLIACLLQGCYQRRDITPQTFHSYLEDIINYRWELEEGKPNPLREASF
QDLPLRTRVEILHRLCDYRLDADDVFDLLKGLDADSLRVEPLGEDNSGALYWYFYGTRMYKEDPVQGKSNGELSLSRESEGQKNVSSIPGKTGKRRGRPPKRKKL
QEEILLSEKQEENSLASEPQTRHGSQGPGQGTWWLLCQTEEEWRQVTESFRERTSLRERQLYKLLSEDFLPEICNMIAQKGKRPQRTKAELHPRWMSDHLSIKPV
KQEETPVLTRIEKQKRKEEEEERQILLAVQKKEQEQMLKEERKRELEEKVKAVEGMCSVRVVWRGACLSTSRPVDRAKRRKLREERAWLLAQGKELPPELSHLDP
NSPMREEKKTKDLFELDDDFTAMYKVLDVVKAHKDSWPFLEPVDESYAPNYYQIIKAPMDISSMEKKLNGGLYCTKEEFVNDMKTMFRNCRKYNGESSEYTKMSD
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MCPEEGGAAGLGELRSWWEVPAIAHFCSLFRTAFRLPDFEIEELEAALHRDDVEFISDLIACLLQGCYQRRDITPQTFHSYLEDIINYRWELEEGKPNPLREASF
QDLPLRTRVEILHRLCDYRLDADDVFDLLKGLDADSLRVEPLGEDNSGALYWYFYGTRMYKEDPVQGKSNGELSLSRESEGQKNVSSIPGKTGKRRGRPPKRKKL
QEEILLSEKQEENSLASEPQTRHGSQGPGQGTWWLLCQTEEEWRQVTESFRERTSLRERQLYKLLSEDFLPEICNMIAQKGKRPQRTKAELHPRWMSDHLSIKPV
KQEETPVLTRIEKQKRKEEEEERQILLAVQKKEQEQMLKEERKRELEEKVKAVEGMCSVRVVWRGACLSTSRPVDRAKRRKLREERAWLLAQGKELPPELSHLDP
NSPMREEKKTKDLFELDDDFTAMYKVLDVVKAHKDSWPFLEPVDESYAPNYYQIIKAPMDISSMEKKLNGGLYCTKEEFVNDMKTMFRNCRKYNGESSEYTKMSD
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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 (4) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 4 (6) |
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 |
| Ramelli, 2008 | - | FISH | | | ASD | - | - | - | - | 1 | - | 1 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Bailey, 1998 | - | microsatellite-based genomic screen |  | | PDD | 99 | - | 99 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted 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.