AutismKB 2.0

Evidence Details for ZNF280B


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Basic Information Top
Gene Symbol:ZNF280B ( 5'OY11.1,D87009.C22.3,SUHW2,ZNF279,ZNF632 )
Gene Full Name: zinc finger protein 280B
Band: 22q11.22
Quick LinksEntrez ID:140883; OMIM: NA; Uniprot ID:Z280B_HUMAN; ENSEMBL ID: ENSG00000198477; HGNC ID: 23022
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF280B|140883|nucleotide
ATGGAACAATCATGTGAGGAAGAGAAAGAGCCTGAACCACAGAAGAACATACAAGAAACCAAACAAGTAGATGACGAAGATGCTGAGCTCATCTTTGTTGGTGTG
GAACATGTAAATGAAGATGCTGAGCTAATCTTTGTTGGGGTGACTTCAAATTCAAAACCAGTCGTTTCAAACATTTTGAACAGAGTCACCCCGGGTTCATGGTCA
AGGAGAAAAAAGTATGATCACCTTAGAAAAGATACTGCTCGCAAATTGCAGCCTAAAAGTCATGAGACCGTTACATCAGAAGCAGTGACCGTCCTGCCAGCTTCC
CAACTTGAATCGAGATCAACAGATAGTCCTATTATTATTGAGCCTTTGTCTAAACCTGATTATAGAAATAGTTCACCACAAGTTGTGCCTAATAACTCTTCAGAA
TTACCTTCTCCTTTGATTACATTCACAGATTCATTGCATCATCCAGTAAGTACAGCACTTTCAGTAGGAGGTATAAATGAAAGTCCTCGTGTATCAAAGCAACTT
TCCACTTTCGAAGTAAACAGCATAAATCCCAAAAGGGCTAAACTCAGGGATGGAATTATAGAAGGAAATTCTTCAGCTTCGTTCCCTTCAGATACCTTTCATACA
ATGAATACTCAGCAAAGTACACCCTCAAATAATGTTCATACCTCATTAAGCCATGTTCAGAATGGAGCACCTTTTCCAGCAGCTTTTCCAAAGGACAATATCCAT
TTCAAGCCTATAAATACAAATCTTGATAGGGAAAATGAATTGGCAAAAACAGACATTTTGAGTCTAACAAGTCAAAACAAGACCTTTGATCCCAAGAAAGAAAAT
CCCATTGTGTTACTTAGTGACTTTTACTATGGACAGCATAAAGGAGAAGGGCAGCCGGAACAGAAGACTCACACCACCTTTAAATGCCTCAGCTGCGTGAAAGTT
CTAAAAAATGTTAAGTTTATGAATCACGTGAAGCATCATTTGGAATTTGAGAAGCAGAGGAACGACAGCTGGGAAAACCACACCACCTGCCAGCACTGCCACCGG
CAGTTTCCCACTCCCTTCCAGCTACAGTGTCACATCGAAAATGTCCACACTGCCCAGGAGCCCTCTACTGTCTGTAAAATCTGTGAATTGTCATTTGAAACAGAT
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>ZNF280B|140883|protein
MEQSCEEEKEPEPQKNIQETKQVDDEDAELIFVGVEHVNEDAELIFVGVTSNSKPVVSNILNRVTPGSWSRRKKYDHLRKDTARKLQPKSHETVTSEAVTVLPAS
QLESRSTDSPIIIEPLSKPDYRNSSPQVVPNNSSELPSPLITFTDSLHHPVSTALSVGGINESPRVSKQLSTFEVNSINPKRAKLRDGIIEGNSSASFPSDTFHT
MNTQQSTPSNNVHTSLSHVQNGAPFPAAFPKDNIHFKPINTNLDRENELAKTDILSLTSQNKTFDPKKENPIVLLSDFYYGQHKGEGQPEQKTHTTFKCLSCVKV
LKNVKFMNHVKHHLEFEKQRNDSWENHTTCQHCHRQFPTPFQLQCHIENVHTAQEPSTVCKICELSFETDQVLLQHMKDHHKPGEMPYVCQVCHYRSSVFADVET
HFRTCHENTKNLLCPFCLKIFKTATPYMCHYRGHWGKSAHQCSKCRLQFLTFKEKMEHKTQCHQMFKKPKQLEGLPPETKVTIQVSLEPLQPGSVDVASITVSTS
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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) 2 (8) 0 (0) 0 (0) 0 (0) 0 (2) 0 (1) 0 (0) 0 (0) 4 (11)
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
Roubertie, 2001 - FISHautism - - - - 1 - 1
Niklasson, 2002 Sweden FISHautism - - - - 1 - 1
Ramelli, 2008 - FISHASD - - - - 1 - 1
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Bremer, 2011 - aCGHASD - - - - 223 - 223
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Hadley D, 2014 - GWASASD - - - - 6742 12544 19286
Linkage Studies Top