AutismKB 2.0

Evidence Details for FZR1


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Basic Information Top
Gene Symbol:FZR1 ( CDC20C,CDH1,FZR,FZR2,HCDH,HCDH1,KIAA1242 )
Gene Full Name: fizzy/cell division cycle 20 related 1 (Drosophila)
Band: 19p13.3
Quick LinksEntrez ID:51343; OMIM: 603619; Uniprot ID:FZR_HUMAN; ENSEMBL ID: ENSG00000105325; HGNC ID: 24824
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FZR1|51343|nucleotide
ATGGACCAGGACTATGAGCGGCGCCTGCTTCGCCAGATCGTCATCCAGAATGAGAACACGATGCCACGCGTCACAGAGATGCGGCGGACCCTGACGCCTGCCAGC
TCCCCAGTGTCCTCGCCCAGCAAGCACGGAGACCGCTTCATCCCCTCCAGAGCCGGAGCCAACTGGAGCGTGAACTTCCACAGGATTAACGAGAATGAGAAGTCT
CCCAGTCAGAACCGGAAAGCCAAGGACGCCACCTCAGACAACGGCAAAGACGGCCTGGCCTACTCTGCCCTGCTCAAGAATGAGCTGCTGGGTGCCGGCATCGAG
AAGGTGCAGGACCCGCAGACTGAGGACCGCAGGCTGCAGCCCTCCACGCCTGAGAAGAAGGGTCTGTTCACGGTGACGCGGCTCTGTGACCTCTCAGTGGAAGGG
GACTCAGTGACCTCCGTGGGCTGGTCTGAGCGGGGGAACCTGGTGGCGGTGGGCACACACAAGGGCTTCGTGCAGATCTGGGACGCAGCCGCAGGGAAGAAGCTG
TCCATGTTGGAGGGCCACACGGCACGCGTCGGGGCGCTGGCCTGGAATGCTGAGCAGCTGTCGTCCGGGAGCCGCGACCGCATGATCCTGCAGAGGGACATCCGC
ACCCCGCCACTGCAGTCGGAGCGGCGGCTGCAGGGCCACCGGCAGGAGGTGTGCGGGCTCAAGTGGTCCACAGACCACCAGCTCCTCGCCTCGGGGGGCAACGAC
AACAAGCTGCTGGTCTGGAATCACTCGAGCCTGAGCCCCGTGCAGCAGTACACGGAGCACCTGGCGGCCGTGAAGGCCATCGCCTGGTCCCCACATCAGCACGGG
CTGCTGGCCTCGGGGGGCGGCACAGCTGACCGCTGTATCCGCTTCTGGAACACGCTGACAGGACAACCACTGCAGTGTATCGACACGGGCTCCCAAGTGTGCAAT
CTGGCCTGGTCCAAGCACGCCAACGAGCTGGTGAGCACGCACGGCTACTCACAGAACCAGATCCTTGTCTGGAAGTACCCCTCCCTGACCCAGGTGGCCAAGCTG
ACCGGGCACTCCTACCGCGTGCTGTACCTGGCAATGTCCCCTGATGGGGAGGCCATCGTCACTGGTGCTGGAGACGAGACCCTGAGGTTCTGGAACGTCTTTAGC
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>FZR1|51343|protein
MDQDYERRLLRQIVIQNENTMPRVTEMRRTLTPASSPVSSPSKHGDRFIPSRAGANWSVNFHRINENEKSPSQNRKAKDATSDNGKDGLAYSALLKNELLGAGIE
KVQDPQTEDRRLQPSTPEKKGLFTVTRLCDLSVEGDSVTSVGWSERGNLVAVGTHKGFVQIWDAAAGKKLSMLEGHTARVGALAWNAEQLSSGSRDRMILQRDIR
TPPLQSERRLQGHRQEVCGLKWSTDHQLLASGGNDNKLLVWNHSSLSPVQQYTEHLAAVKAIAWSPHQHGLLASGGGTADRCIRFWNTLTGQPLQCIDTGSQVCN
LAWSKHANELVSTHGYSQNQILVWKYPSLTQVAKLTGHSYRVLYLAMSPDGEAIVTGAGDETLRFWNVFSKTRSTKESVSVLNLFTRIR

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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 (2) 1 (1) 0 (0) 0 (0) 0 (0) 2 (2) 0 (0) 0 (0) 6 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top