AutismKB 2.0

Evidence Details for CDR2


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Basic Information Top
Gene Symbol:CDR2 ( CDR62,Yo )
Gene Full Name: cerebellar degeneration-related protein 2, 62kDa
Band: 16p12.2
Quick LinksEntrez ID:1039; OMIM: 117340; Uniprot ID:CDR2_HUMAN; ENSEMBL ID: ENSG00000140743; HGNC ID: 1799
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CDR2|1039|nucleotide
ATGCTGGCGGAAAACCTGGTAGAGGAGTTTGAGATGAAGGAGGACGAGCCGTGGTACGACCACCAGGACCTCCAGCAAGATCTTCAACTTGCTGCTGAGCTTGGG
AAGACATTACTGGATCGGAACACAGAGTTGGAGGACTCTGTTCAGCAGATGTATACAACCAATCAGGAGCAGTTACAGGAAATTGAGTATCTGACGAAGCAAGTG
GAACTTCTACGGCAGATGAACGAACAACATGCAAAGGTTTATGAACAATTAGACGTCACAGCAAGGGAACTGGAAGAAACAAATCAAAAGCTAGTTGCTGACAGC
AAGGCCTCACAGCAAAAGATTCTGAGCCTGACTGAAACGATTGAATGCCTGCAAACCAACATTGATCACCTCCAGAGCCAAGTGGAGGAGCTGAAGTCATCTGGC
CAAGGGAGAAGGAGCCCGGGAAAGTGTGACCAGGAGAAACCGGCACCCAGCTTTGCATGTCTGAAGGAGCTGTATGACCTCCGCCAACACTTCGTGTATGATCAT
GTGTTCGCTGAGAAGATCACTTCCTTGCAAGGTCAGCCAAGCCCTGATGAAGAGGAAAATGAGCACTTGAAAAAAACAGTGACAATGTTGCAGGCCCAGCTGAGC
CTGGAGCGGCAGAAGCGGGTGACTATGGAGGAGGAATATGGGCTCGTGTTAAAGGAGAACAGTGAACTGGAGCAGCAGCTGGGGGCCACAGGTGCCTACCGAGCA
CGGGCGCTGGAACTAGAGGCCGAGGTGGCAGAGATGCGACAGATGTTGCAGTCAGAGCATCCATTTGTGAATGGAGTTGAGAAGCTGGTGCCAGACTCTCTGTAT
GTTCCTTTCAAAGAGCCCAGCCAGAGCCTGCTGGAAGAGATGTTCCTGACTGTGCCGGAATCACATAGAAAGCCTCTCAAGCGCAGCAGCAGTGAGACGATCCTC
AGCAGCTTGGCAGGGAGTGACATCGTGAAGGGCCACGAGGAGACCTGCATCAGGAGGGCCAAGGCTGTGAAACAGAGGGGCATCTCCCTTCTGCACGAAGTGGAC
ACGCAGTACAGCGCCCTGAAGGTGAAGTATGAAGAGTTGCTGAAGAAGTGCCAAGAGGAACAGGACTCCCTGTCACACAAGGCTGTGCAGACCTCCAGGGCTGCA
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>CDR2|1039|protein
MLAENLVEEFEMKEDEPWYDHQDLQQDLQLAAELGKTLLDRNTELEDSVQQMYTTNQEQLQEIEYLTKQVELLRQMNEQHAKVYEQLDVTARELEETNQKLVADS
KASQQKILSLTETIECLQTNIDHLQSQVEELKSSGQGRRSPGKCDQEKPAPSFACLKELYDLRQHFVYDHVFAEKITSLQGQPSPDEEENEHLKKTVTMLQAQLS
LERQKRVTMEEEYGLVLKENSELEQQLGATGAYRARALELEAEVAEMRQMLQSEHPFVNGVEKLVPDSLYVPFKEPSQSLLEEMFLTVPESHRKPLKRSSSETIL
SSLAGSDIVKGHEETCIRRAKAVKQRGISLLHEVDTQYSALKVKYEELLKKCQEEQDSLSHKAVQTSRAAAKDLTGVNAQSEPVASGWELASVNPEPVSSPTTPP
EYKALFKEIFSCIKKTKQEIDEQRTKYRSLSSHS
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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 (4) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (5)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top