AutismKB 2.0

Evidence Details for CEP135


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Basic Information Top
Gene Symbol:CEP135 ( CEP4,KIAA0635 )
Gene Full Name: centrosomal protein 135kDa
Band: 4q12
Quick LinksEntrez ID:9662; OMIM: 611423; Uniprot ID:CP135_HUMAN; ENSEMBL ID: ENSG00000174799; HGNC ID: 29086
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CEP135|9662|nucleotide
ATGACTACAGCTGTAGAGAGAAAGTATATTAATATTAGGAAAAGGCTGGATCAGCTGGGATACCGCCAGACTCTGACAGTGGAGTGTTTACCTTTGGTAGAAAAA
CTTTTCAGCGACTTAGTTCATACAACTGAGAGCCTTCGGCAATCAAAATTATCTGCTGTGAAAGCTGAAAAAGAAAGTGCCAATTTTGATTTTGTTTTGGAACCC
TATAAACTTGAAAATGCAAGATTGAGTAGAGAAAATAATGAATTATACCTAGAGTTAATGAAACTGAGAGAACATTCAGACCAACACGTTAAAGAGTTGAAAACT
TCATTGAAGAAATGTGCACGTGAAACAGCTGATCTGAAATTTCTGAATAACCAATATGCTCATAAACTCAAACTGTTGGAGAAAGAGAGCAAAGCTAAGAATGAA
AGAATTCAACAACTTCAAGAAAAGAATTTGCATGCTGTAGTACAAACTCCAGGTGGCAAGAAAAGAAGTATTGCTTTCAGGCGCCAGCGTATGCAAATTGATGAA
CCGGTTCCTCCCTCTGAAGTCAGTTCATATCCAGTTCCTCAACCAGATGACCCTTACATTGCAGACCTCCTTCAAGTGGCTGATAACAGGATTCAAGAACTTCAA
CAGGAAGTCCACCAGCTACAAGAAAAGTTAGCAATGATGGAAAGTGGGGTGAGAGACTATAGCAAGCAGATTGAGCTAAGAGAACGAGAGATAGAACGACTGTCA
GTTGCTTTGGATGGTGGTCGGTCCCCTGATGTCCTTTCTCTGGAGTCTAGAAATAAAACCAATGAAAAGCTTATTGCTCATTTAAATATTCAGGTTGACTTTCTT
CAGCAAGCTAATAAAGACCTGGAGAAGCGTATACGAGAGCTTATGGAAACCAAGGAAACAGTGACATCTGAAGTCGTTAATTTAAGTAACAAAAATGAAAAACTC
TGCCAAGAATTAACTGAAATAGATCAGTTAGCACAGCAGTTGGAAAGACATAAAGAAGAAGTGCTTGAGACTGCTGATAAAGAGCTTGGGGAAGCAAAGAAAGAG
ATTAAAAGAAAGCTCTCTGAAATGCAGGATCTTGAAGAAACAATGGCAAAACTTCAGCTGGAATTGAACTTATGCCAGAAAGAAAAGGAGAGACTGAGTGATGAA
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>CEP135|9662|protein
MTTAVERKYINIRKRLDQLGYRQTLTVECLPLVEKLFSDLVHTTESLRQSKLSAVKAEKESANFDFVLEPYKLENARLSRENNELYLELMKLREHSDQHVKELKT
SLKKCARETADLKFLNNQYAHKLKLLEKESKAKNERIQQLQEKNLHAVVQTPGGKKRSIAFRRQRMQIDEPVPPSEVSSYPVPQPDDPYIADLLQVADNRIQELQ
QEVHQLQEKLAMMESGVRDYSKQIELREREIERLSVALDGGRSPDVLSLESRNKTNEKLIAHLNIQVDFLQQANKDLEKRIRELMETKETVTSEVVNLSNKNEKL
CQELTEIDQLAQQLERHKEEVLETADKELGEAKKEIKRKLSEMQDLEETMAKLQLELNLCQKEKERLSDELLVKSDLETVVHQLEQEKQRLSKKVESFAVTERQL
TLEVERMRLEHGIKRRDRSPSRLDTFLKGIEEERDYYKKELERLQHIIQRRSCSTSYSAREKSSIFRTPEKGDYNSEIHQITRERDELQRMLERFEKYMEDIQSN
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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 (1) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top