AutismKB 2.0

Evidence Details for CEP250


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Basic Information Top
Gene Symbol:CEP250 ( C-NAP1,CEP2,CNAP1,MGC88542 )
Gene Full Name: centrosomal protein 250kDa
Band: 20q11.22
Quick LinksEntrez ID:11190; OMIM: 609689; Uniprot ID:CP250_HUMAN; ENSEMBL ID: ENSG00000126001; HGNC ID: 1859
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CEP250|11190|nucleotide
ATGGAGACAAGAAGCCCTGGGTTGAACAACATGAAGCCCCAGTCACTGCAGCTGGTACTGGAAGAGCAGGTGCTGGCACTACAGCAGCAGATGGCAGAGAATCAG
GCAGCCTCCTGGCGGAAGCTGAAGAACTCCCAGGAGGCCCAGCAGAGACAAGCAACCCTTGTGAGGAAGCTGCAGGCCAAGGTGCTGCAGTACCGAAGCTGGTGC
CAAGAGCTGGAGAAGCGGCTAGAAGCCACTGGAGGACCAATCCCCCAGAGGTGGGAAAATGTGGAGGAGCCAAACCTGGATGAGCTGCTGGTCCGATTGGAGGAG
GAGCAACAGAGGTGTGAGAGTCTAGCAGAGGTGAACACCCAGCTTCGACTGCACATGGAAAAAGCTGACGTGGTGAATAAAGCCCTTAGGGAAGATGTGGAAAAA
CTGACAGTGGACTGGAGCCGGGCCCGGGATGAGCTAATGAGGAAGGAGAGCCAGTGGCAGATGGAGCAGGAGTTCTTCAAGGGCTACCTGAAAGGGGAGCACGGT
CGCCTTCTCAGTCTATGGCGGGAGGTTGTGACATTCCGACGCCACTTCCTGGAAATGAAGTCAGCTACTGACAGAGATCTGATGGAGCTAAAAGCTGAGCATGTG
AGGCTTTCAGGGTCTCTGTTGACCTGTTGTCTGCGCTTGACTGTGGGAGCACAGTCTCGGGAACCCAACGGATCTGGAAGAATGGATGGGCGGGAGCCGGCCCAG
CTGCTGCTGCTACTAGCCAAGACCCAGGAGCTGGAGAAGGAAGCCCATGAAAGGAGCCAGGAGTTAATACAGCTGAAGAGTCAAGGGGATCTGGAGAAGGCTGAA
CTTCAGGACCGGGTGACCGAGCTCTCTGCTCTGTTGACCCAGTCTCAGAAGCAAAATGAAGATTATGAAAAGATGATAAAGGCTCTGAGAGAGACAGTGGAGATC
CTGGAGACAAATCACACAGAATTAATGGAACATGAAGCATCTCTTAGTAGGAATGCGCAAGAGGAGAAGTTGTCTTTACAGCAGGTGATCAAGGATATAACCCAG
GTCATGGTGGAAGAAGGGGACAATATAGCCCAAGGCTCTGGTCATGAGAACTCTTTGGAATTGGACTCTAGTATCTTCTCCCAGTTTGATTACCAGGATGCAGAC
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>CEP250|11190|protein
METRSPGLNNMKPQSLQLVLEEQVLALQQQMAENQAASWRKLKNSQEAQQRQATLVRKLQAKVLQYRSWCQELEKRLEATGGPIPQRWENVEEPNLDELLVRLEE
EQQRCESLAEVNTQLRLHMEKADVVNKALREDVEKLTVDWSRARDELMRKESQWQMEQEFFKGYLKGEHGRLLSLWREVVTFRRHFLEMKSATDRDLMELKAEHV
RLSGSLLTCCLRLTVGAQSREPNGSGRMDGREPAQLLLLLAKTQELEKEAHERSQELIQLKSQGDLEKAELQDRVTELSALLTQSQKQNEDYEKMIKALRETVEI
LETNHTELMEHEASLSRNAQEEKLSLQQVIKDITQVMVEEGDNIAQGSGHENSLELDSSIFSQFDYQDADKALTLVRSVLTRRRQAVQDLRQQLAGCQEAVNLLQ
QQHDQWEEEGKALRQRLQKLTGERDTLAGQTVDLQGEVDSLSKERELLQKAREELRQQLEVLEQEAWRLRRVNVELQLQGDSAQGQKEEQQEELHLAVRERERLQ
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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) 0 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (3)
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
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top