AutismKB 2.0

Evidence Details for ZNF280D


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Basic Information Top
Gene Symbol:ZNF280D ( MGC21637,MGC61687,SUHW4,ZNF634 )
Gene Full Name: zinc finger protein 280D
Band: 15q21.2
Quick LinksEntrez ID:54816; OMIM: NA; Uniprot ID:Z280D_HUMAN; ENSEMBL ID: ENSG00000137871; HGNC ID: 25953
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF280D|54816|nucleotide
ATGGCAGAACTGTTTATGGAATGTGAAGAAGAGGAGCTGGAACCATGGCAGAAGAAAGTAAAAGAAGTTGAGGATGACGATGATGATGAGCCAATCTTTGTTGGC
GAGATATCAAGTTCAAAACCAGCAATTTCAAATATTTTGAACAGAGTTAACCCCAGCTCATATTCAAGGGGACTAAAGAATGGTGCACTCAGTCGAGGTATTACT
GCTGCATTCAAGCCTACAAGTCAACACTACACGAATCCAACATCAAATCCAGTGCCTGCCTCACCAATAAATTTTCATCCTGAGTCTAGATCTTCAGATAGTTCT
GTTATTGTTCAGCCTTTTTCTAAACCTGGTTATATAACAAACTCATCACGAGTTGTGTCTAATAAGTCATCAGAGTTACTGTTTGACTTGACCCAGGATACAGGA
TTATCACATTACCAAGGGGGACCAACACTTTCTATGGCAGGTATGAGTGAAAGTTCATTTTTATCAAAACGTCCTTCTACTTCTGAAGTAAATAATGTTAATCCA
AAGAAGCCTAAACCCAGCGAAAGTGTTTCTGGAGCAAATTCCTCAGCTGTATTACCTTCAGTTAAATCTCCTTCAGTGACTTCTTCCCAGGCTATGCTAGCAAAA
GGTACAAATACCTCATCAAATCAGTCTAAAAATGGAACACCTTTTCCAAGAGCTTGTCCAAAGTGCAACATTCATTTCAATCTTTTGGATCCTTTGAAAAATCAC
ATGAAGTATTGTTGTCCAGACATGATAAATAACTTTTTGGGACTGGCTAAAACAGAATTTTCAAGTACAGTAAATAAAAACACAACTATTGATTCAGAGAAAGGA
AAATTGATCATGTTAGTTAATGACTTTTATTATGGAAAACATGAAGGAGATGTCCAGGAGGAACAGAAGACTCACACAACCTTTAAATGCTTCAGTTGCTTGAAA
ATTCTAAAAAATAACATTAGGTTTATGAACCACATGAAACACCATTTGGAACTTGAGAAGCAGAGCAGTGAGAGCTGGGAAAACCATACCACCTGCCAGCACTGC
TACCGTCAGTTTCCCACACCATTTCAGTTGCAGTGTCACATCGAAAGTACACATACGCCCCATGAATTTTCTACTATTTGTAAAATCTGTGAATTGTCATTTGAA
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>ZNF280D|54816|protein
MAELFMECEEEELEPWQKKVKEVEDDDDDEPIFVGEISSSKPAISNILNRVNPSSYSRGLKNGALSRGITAAFKPTSQHYTNPTSNPVPASPINFHPESRSSDSS
VIVQPFSKPGYITNSSRVVSNKSSELLFDLTQDTGLSHYQGGPTLSMAGMSESSFLSKRPSTSEVNNVNPKKPKPSESVSGANSSAVLPSVKSPSVTSSQAMLAK
GTNTSSNQSKNGTPFPRACPKCNIHFNLLDPLKNHMKYCCPDMINNFLGLAKTEFSSTVNKNTTIDSEKGKLIMLVNDFYYGKHEGDVQEEQKTHTTFKCFSCLK
ILKNNIRFMNHMKHHLELEKQSSESWENHTTCQHCYRQFPTPFQLQCHIESTHTPHEFSTICKICELSFETEHVLLQHMKDNHKPGEMPYVCQVCNYRSSSFSDV
ETHFRTSHENTKNLLCPFCLKVIKIATPYMHHYMKHQKKGIHRCTKCRLQFLTCKEKMDHKTQHHRTFIKPKQLEGLPPGTKVTIRASVGPLQSGASPTPSISAS
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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 (2) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 4 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top