GENETIC ENCYCLOPEDIA
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gene: ZBED5

id58486
symbolZBED5
organismHomo sapiens
full namezinc finger BED-type containing 5
summaryThis gene is unusual in that its coding sequence is mostly derived from Charlie-like DNA transposon; however, it does not appear to be an active DNA transposon as it is not flanked by terminal inverted repeats. The encoded protein is conserved among the mammalian Laurasiatheria branch. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2009]
variant-disease

GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1 AND See cases

GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) AND Russell-Silver syndrome

GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 AND See cases

GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 AND See cases

GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 AND not provided

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