AutismKB 2.0

Evidence Details for ZBED1


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Basic Information Top
Gene Symbol:ZBED1 ( ALTE,DREF,KIAA0785,TRAMP,hDREF )
Gene Full Name: zinc finger, BED-type containing 1
Band: Xp22.33 and Yp11
Quick LinksEntrez ID:9189; OMIM: 300178; Uniprot ID:ZBED1_HUMAN; ENSEMBL ID: ENSG00000214717; HGNC ID: 447
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZBED1|9189|nucleotide
ATGGAGAATAAAAGCCTGGAGAGCTCCCAGACAGACCTGAAGCTGGTGGCCCACCCCCGCGCCAAGAGCAAGGTGTGGAAGTATTTCGGCTTCGACACCAACGCC
GAGGGATGCATCCTGCAGTGGAAGAAAATCTACTGCCGCATCTGCATGGCCCAGATCGCCTACTCCGGAAACACCTCCAACCTGTCCTACCACCTGGAGAAGAAC
CACCCCGAGGAATTCTGCGAGTTCGTCAAGAGCAACACGGAGCAGATGCGTGAAGCCTTCGCCACCGCCTTCTCCAAGCTGAAGCCCGAGTCGTCCCAGCAGCCC
GGGCAGGACGCGCTGGCCGTCAAGGCCGGCCACGGCTACGACAGCAAGAAGCAGCAGGAGCTGACGGCCGCCGTGCTGGGCCTCATCTGCGAGGGGCTGTACCCA
GCCTCCATCGTGGACGAGCCCACCTTCAAGGTGCTGCTGAAGACGGCCGACCCCCGGTATGAGCTGCCCAGCCGGAAGTACATCTCTACCAAGGCCATCCCTGAG
AAGTACGGGGCCGTCCGGGAGGTGATCCTGAAGGAGCTGGCCGAGGCCACCTGGTGTGGCATCTCCACCGACATGTGGAGGAGTGAGAATCAGAACCGCGCCTAC
GTCACGCTGGCCGCCCACTTCCTGGGCCTGGGCGCCCCCAACTGCCTGTCCATGGGCTCCCGCTGCCTGAAGACCTTCGAGGTGCCCGAAGAGAACACGGCGGAG
ACCATCACGCGAGTGCTCTATGAGGTCTTCATCGAGTGGGGCATCAGCGCCAAGGTCTTCGGGGCCACCACCAACTATGGCAAGGACATCGTGAAGGCGTGCTCC
CTGCTGGACGTCGCAGTGCACATGCCCTGCCTGGGCCACACCTTCAATGCCGGCATCCAGCAGGCCTTCCAGCTCCCGAAGCTGGGGGCGCTGCTGTCGCGCTGC
CGCAAACTGGTGGAGTACTTCCAGCAGTCTGCCGTGGCCATGTACATGCTCTATGAGAAGCAGAAGCAGCAGAACGTGGCCCACTGCATGCTGGTGAGCAACCGC
GTCTCCTGGTGGGGGAGCACGCTGGCCATGCTGCAGCGCCTCAAGGAGCAGCAGTTCGTCATCGCCGGGGTCTTGGTGGAGGACAGCAACAACCACCACCTCATG
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>ZBED1|9189|protein
MENKSLESSQTDLKLVAHPRAKSKVWKYFGFDTNAEGCILQWKKIYCRICMAQIAYSGNTSNLSYHLEKNHPEEFCEFVKSNTEQMREAFATAFSKLKPESSQQP
GQDALAVKAGHGYDSKKQQELTAAVLGLICEGLYPASIVDEPTFKVLLKTADPRYELPSRKYISTKAIPEKYGAVREVILKELAEATWCGISTDMWRSENQNRAY
VTLAAHFLGLGAPNCLSMGSRCLKTFEVPEENTAETITRVLYEVFIEWGISAKVFGATTNYGKDIVKACSLLDVAVHMPCLGHTFNAGIQQAFQLPKLGALLSRC
RKLVEYFQQSAVAMYMLYEKQKQQNVAHCMLVSNRVSWWGSTLAMLQRLKEQQFVIAGVLVEDSNNHHLMLEASEWATIEGLVELLQPFKQVAEMLSASRYPTIS
MVKPLLHMLLNTTLNIKETDSKELSMAKEVIAKELSKTYQETPEIDMFLNVATFLDPRYKRLPFLSAFERQQVENRVVEEAKGLLDKVKDGGYRPAEDKIFPVPE
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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 (5) 0 (0) 0 (0) 0 (0) 0 (0) 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
Thomas, 1999 - FISHautism - - - - 3 - 3
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Laplana M, 2014 - aCGHASD 1 - - - 1 5 6
Linkage Studies Top