AutismKB 2.0

Evidence Details for ZBTB46


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Basic Information Top
Gene Symbol:ZBTB46 ( BTBD4,FLJ13502,RINZF,ZNF340,dJ583P15.7,dJ583P15.8 )
Gene Full Name: zinc finger and BTB domain containing 46
Band: 20q13.33
Quick LinksEntrez ID:140685; OMIM: NA; Uniprot ID:Q6ZMU8_HUMAN; ENSEMBL ID: ENSG00000130584; HGNC ID: 16094
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZBTB46|140685|nucleotide
ATGAACAACCGAAAGGAAGATATGGAAATCACGTCCCACTACCGGCACCTGCTGCGGGAGCTCAACGAGCAGAGGCAGCACGGCGTCCTGTGCGACGTCTGCGTG
GTCGTGGAGGGCAAGGTCTTCAAGGCGCACAAGAACGTCCTGCTGGGCAGCAGCCGCTACTTCAAGACGCTCTACTGCCAGGTGCAGAAGACGTCGGAGCAGGCC
ACGGTCACGCACCTGGACATCGTCACGGCCCAGGGCTTCAAGGCCATCATCGACTTCATGTACTCAGCGCACCTGGCGCTCACCAGCAGGAACGTCATCGAGGTG
ATGTCAGCCGCCAGCTTCCTGCAGATGACGGACATCGTGCAAGCCTGCCACGACTTCATCAAGGCGGCGCTGGACATCAGCATCAAGTCGGACGCCTCAGATGAG
CTTGCGGAGTTCGAGATCGGCGCCTCGTCCAGCAGCAGCACGGAAGCTCTCATCTCGGCCGTGATGGCTGGGAGGAGCATCTCCCCGTGGCTGGCACGGCGAACG
AGTCCTGCCGATTCTTCCGGAGACTCGGCCATCGCCAGCTGTCACGACGGAGGGAGCAGCTACGGGAAAGAGGATCAGGAGCCCAAGGCCGATGGCCCTGATGAT
GTTTCTTCACAGCCTCTATGGCCTGGAGACGTGGGCTACGGGCCTCTGCGCATCAAGGAAGAGCAGGTTTCACCGTCTCAGTACGGAGGGAGCGAGCTGCCTTCT
GCCAAGGACGGTGCAGTACAGAACTCTTTCTCAGAGCAGAGTGCTGGTGATGCCTGGCAGCCCACGGGCCGAAGGAAGAATCGGAAAAACAAAGAGACCGTCCGG
CACATCACACAGCAGGTGGAAGATGACAGCCGGGCCAGCTCCCCGGTGCCGTCCTTCCTGCCGACGTCGGGGTGGCCGTTCAGCAGCCGAGACTCAAATGCGGAC
CTGTCCGTCACCGAAGCCAGCAGCTCCGACAGCCGAGGAGAGAGGGCCGAGCTCTATGCACAGGTGGAGGAGGGTCTCCTGGGAGGAGAAGCCAGCTATCTGGGC
CCTCCCCTCACCCCAGAGAAGGACGACGCCCTGCATCAGGCCACCGCGGTGGCCAACCTGCGCGCGGCGCTCATGAGTAAGAACAGCCTGCTGTCGCTGAAGGCC
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>ZBTB46|140685|protein
MNNRKEDMEITSHYRHLLRELNEQRQHGVLCDVCVVVEGKVFKAHKNVLLGSSRYFKTLYCQVQKTSEQATVTHLDIVTAQGFKAIIDFMYSAHLALTSRNVIEV
MSAASFLQMTDIVQACHDFIKAALDISIKSDASDELAEFEIGASSSSSTEALISAVMAGRSISPWLARRTSPADSSGDSAIASCHDGGSSYGKEDQEPKADGPDD
VSSQPLWPGDVGYGPLRIKEEQVSPSQYGGSELPSAKDGAVQNSFSEQSAGDAWQPTGRRKNRKNKETVRHITQQVEDDSRASSPVPSFLPTSGWPFSSRDSNAD
LSVTEASSSDSRGERAELYAQVEEGLLGGEASYLGPPLTPEKDDALHQATAVANLRAALMSKNSLLSLKADVLGDDGSLLFEYLPRGAHSLSLNEFTVIRKKFKC
PYCSFSAMHQCILKRHMRSHTGERPYPCEICGKKFTRREHMKRHTLVHSKDKKYVCKVCSRVFMSAASVGIRHGSRRHGVCTDCAGRGMAGPLDHGGGGGEGSPE
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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 (4) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top