AutismKB 2.0

Evidence Details for ZSCAN5B


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Basic Information Top
Gene Symbol:ZSCAN5B ( ZNF495B )
Gene Full Name: zinc finger and SCAN domain containing 5B
Band: 19q13.43
Quick LinksEntrez ID:342933; OMIM: NA; Uniprot ID:ZSA5B_HUMAN; ENSEMBL ID: ENSG00000197213; HGNC ID: 34246
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZSCAN5B|342933|nucleotide
ATGGCTGCAAATTGGACACTCTCATGGGGTCAGGGAGGACCCTGCAACAGCCCTGGGTCAGACACTCCACGGTCTGTGGCGTCCCCAGAAACTCAACTTGGAAAT
CACGACAGGAACCCTGAGACTTGGCACATGAATTTCAGGATGTTCAGCTGCCCAGAGGAGTCGGACCCCATCCAGGCTCTGAGGAAACTCACTGAGCTGTGCCAT
CTGTGGCTGAGGCCCGACCTCCACACCAAAGAGCAGATCCTGGACATGCTGGTGATGGAGCAGTTCATGATCTCCATGCCCCAGGAGCTCCAGGTCTTAGTCAAG
GTGAACGGTGTGCAGAGCTGCAAAGACCTGGAGGACCTGCTACGAAATAACAGAAGACCCAAGAAATGGTCTATAGTCAACTTGCTCGGCAAAGAATATCTTATG
CTGAACTCAGATGTCGAGATGGCTGAAGCCCCCGCCAGTGTCAGAGATGATCCGAGAGACGTGTCCAGCCAGTGGGCCTCCTCTGTGAACCAGATGCATCCGGGG
ACAGGCCAGGCCCGCCGAGAGCAGCAGATCCTGCCCAGGGTCGCTGCACTGTCCAGGAGGCAGGGAGAGGACTTTCTGCTACACAAGAGTATTGACGTAACAGGT
GACCCAAACTCTCCGAGACCCAAGCAGACCTTGGAGAAGGATCTGAAGGAAAACAGGGAAGAGAACCCAGGACTGTCATCCCCAGAGCCTCAGCTTCCAAAGAGT
CCCAATCTGGTGAGAGCAAAGGAGGGGAAGGAACCCCAGAAAAGAGCCTCTGTGGAAAATGTGGATGCTGACACACCTTCTGCCTGCGTTGTGGAGAGAGAAGCT
TTGACTCACAGCGGGAACAGAGGAGATGCTCTGAATCTGAGCAGTCCCAAAAGAAGCAAACCAGATGCCTCCTCCATTTCCCAAGAAGAGCCTCAAGGAGAAGCC
ACACCTGTGGGCAACAGAGAATCCCCAGGACAAGCTGAGATCAATCCAGTTCATTCCCCAGGCCCTGCGGGCCCGGTCAGTCACCCAGATGGCCAAGAAGCCAAG
GCCCTGCCGCCCTTTGCATGTGACGTGTGCAATAAATCATTTAAGTATTTTTCCCAGCTAAGCATCCACAGGAGGTCACACACAGGAGACAGACCCTTTCAATGT
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>ZSCAN5B|342933|protein
MAANWTLSWGQGGPCNSPGSDTPRSVASPETQLGNHDRNPETWHMNFRMFSCPEESDPIQALRKLTELCHLWLRPDLHTKEQILDMLVMEQFMISMPQELQVLVK
VNGVQSCKDLEDLLRNNRRPKKWSIVNLLGKEYLMLNSDVEMAEAPASVRDDPRDVSSQWASSVNQMHPGTGQARREQQILPRVAALSRRQGEDFLLHKSIDVTG
DPNSPRPKQTLEKDLKENREENPGLSSPEPQLPKSPNLVRAKEGKEPQKRASVENVDADTPSACVVEREALTHSGNRGDALNLSSPKRSKPDASSISQEEPQGEA
TPVGNRESPGQAEINPVHSPGPAGPVSHPDGQEAKALPPFACDVCNKSFKYFSQLSIHRRSHTGDRPFQCDLCRKRFLQPSDLRVHQRVHTGERPYMCDVCQKRF
AHESTLQGHKRIHTGERPFKCKYCSKVFSHKGNLNVHQRTHSGEKPYKCPTCQKAFRQLGTFKRHLKTHRETTSQ
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 4 (4)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top