AutismKB 2.0

Evidence Details for CEP57L1


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Basic Information Top
Gene Symbol:CEP57L1 ( C6orf182,MGC21731,MGC70837,bA487F23.2,cep57R )
Gene Full Name: centrosomal protein 57kDa-like 1
Band: 6q21
Quick LinksEntrez ID:285753; OMIM: NA; Uniprot ID:CE57L_HUMAN; ENSEMBL ID: ENSG00000183137; HGNC ID: 21561
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CEP57L1|285753|nucleotide
ATGGATTCTGAATTAATGCATAGTATAGTAGGAAGCTATCATAAACCTCCAGAAAGAGTATTTGTTCCCTCATTCACCCAGAATGAACCATCTCAGAATTGCCAT
CCTGCAAACTTAGAAGTTACCTCTCCTAAGATACTTCATAGCCCAAATAGCCAAGCTCTTATTTTAGCCTTAAAAACTCTTCAGGAAAAAATTCATCGTTTAGAG
CTGGAGAGAACACAAGCTGAAGATAACCTGAACATTCTTTCCAGAGAAGCAGCACAGTATAAGAAGGCCTTAGAGAATGAAACAAATGAGAGAAATCTGGCACAC
CAGGAGCTGATAAAGCAGAAAAAAGATATAAGTATACAGTTAAGCTCAGCCCAGTCTCGTTGTACTCTTCTAGAGAAGCAACTAGAATATACAAAGAGAATGGTT
CTCAACGTAGAGCGAGAAAAGAACATGATCCTAGAACAACAGGCCCAGCTTCAGAGGGAAAAAGAACAAGATCAGATGAAGCTGTATGCAAAACTTGAAAAGCTT
GATGTCTTAGAAAAAGAGTGTTTCAGACTTACAACAACTCAGAAAACTGCTGAGGACAAGATTAAACATTTAGAAGAAAAACTTAAGGAAGAAGAACATCAGCGT
AAGCTATTTCAAGACAAAGCTTCTGAGCTTCAAACTGGACTTGAAATCAGTAAAATTATAATGTCTTCAGTTTCAAATCTAAAGCACTCCAAGGAAAAGAAGAAA
TCTTCAAAGAAAACTAAATGTATAAAGAGACGACCACCTTGGCAAATTTGTTCAAAGTTTGGAGCACTGCCTTTTGTGGCTGAAAAGATGAGGCAACATCGTGAC
CCACATATCCTTCAGAAACCTTTTAACGTGACTGAGACTAGATGTCTCCCCAAGCCTTCTAGAACAACTTCCTGGTGTAAAGCTATTCCTCCTGACTCAGAAAAG
TCCATTTCCATTTGTGACAATTTATCTGAACTTTTGATGGCAATGCAAGATGAGCTGGACCAAATGAGCATGGAGCACCAAGAACTACTGAAACAAATGAAGGAA
ACTGAAAGTCATTCAGTCTGTGACGACATAGAATGTGAACTAGAGTGTTTACTCAAGAAAATGGAAATTAAAGGAGAACAAATCTCCAAACTGAAGAAGCATCAA
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>CEP57L1|285753|protein
MDSELMHSIVGSYHKPPERVFVPSFTQNEPSQNCHPANLEVTSPKILHSPNSQALILALKTLQEKIHRLELERTQAEDNLNILSREAAQYKKALENETNERNLAH
QELIKQKKDISIQLSSAQSRCTLLEKQLEYTKRMVLNVEREKNMILEQQAQLQREKEQDQMKLYAKLEKLDVLEKECFRLTTTQKTAEDKIKHLEEKLKEEEHQR
KLFQDKASELQTGLEISKIIMSSVSNLKHSKEKKKSSKKTKCIKRRPPWQICSKFGALPFVAEKMRQHRDPHILQKPFNVTETRCLPKPSRTTSWCKAIPPDSEK
SISICDNLSELLMAMQDELDQMSMEHQELLKQMKETESHSVCDDIECELECLLKKMEIKGEQISKLKKHQDSVCKLQQKVQNSKMSEASGIQQEDSYPKGSKNIK
NSPRKCLTDTNLFQKNSSFHPIRVHNLQMKLRRDDIMWEQ
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (2)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top