AutismKB 2.0

Evidence Details for CECR2


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Basic Information Top
Gene Symbol:CECR2 ( KIAA1740 )
Gene Full Name: cat eye syndrome chromosome region, candidate 2
Band: 22q11.1-q11.21
Quick LinksEntrez 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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>CECR2|27443|protein
MCPEEGGAAGLGELRSWWEVPAIAHFCSLFRTAFRLPDFEIEELEAALHRDDVEFISDLIACLLQGCYQRRDITPQTFHSYLEDIINYRWELEEGKPNPLREASF
QDLPLRTRVEILHRLCDYRLDADDVFDLLKGLDADSLRVEPLGEDNSGALYWYFYGTRMYKEDPVQGKSNGELSLSRESEGQKNVSSIPGKTGKRRGRPPKRKKL
QEEILLSEKQEENSLASEPQTRHGSQGPGQGTWWLLCQTEEEWRQVTESFRERTSLRERQLYKLLSEDFLPEICNMIAQKGKRPQRTKAELHPRWMSDHLSIKPV
KQEETPVLTRIEKQKRKEEEEERQILLAVQKKEQEQMLKEERKRELEEKVKAVEGMCSVRVVWRGACLSTSRPVDRAKRRKLREERAWLLAQGKELPPELSHLDP
NSPMREEKKTKDLFELDDDFTAMYKVLDVVKAHKDSWPFLEPVDESYAPNYYQIIKAPMDISSMEKKLNGGLYCTKEEFVNDMKTMFRNCRKYNGESSEYTKMSD
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Evidence summary Top

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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 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
Roubertie, 2001 - FISHautism - - - - 1 - 1
Niklasson, 2002 Sweden FISHautism - - - - 1 - 1
Ramelli, 2008 - FISHASD - - - - 1 - 1
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top