AutismKB 2.0

Evidence Details for ZNF630


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Basic Information Top
Gene Symbol:ZNF630 ( FLJ20573,FLJ97927,FLJ98691,MGC138344,dJ54B20.2 )
Gene Full Name: zinc finger protein 630
Band: Xp11.23
Quick LinksEntrez ID:57232; OMIM: 300819; Uniprot ID:ZN630_HUMAN; ENSEMBL ID: ENSG00000221994; HGNC ID: 28855
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF630|57232|nucleotide
ATGATTGAGTCCCAGGAACCAGTGACATTTGAGGATGTGGCTGTGGACTTCACGCAGGAAGAGTGGCAGCAGTTGAATCCTGCTCAGAAGACCCTGCATAGGGAT
GTGATGCTGGAGACCTATAATCACCTGGTCTCCGTGGGGTGTTCAGGTATAAAACCAGATGTAATCTTTAAGTTGGAACATGGAAAGGACCCATGGATCATAGAG
AGTGAGTTGTCAAGGTGGATCTACCCAGACAGAGTGAAAGGCCTTGAATCTTCCCAGCAGATCATTTCTGGAGAACTTTTATTTCAAAGGGAGATACTAGAAAGA
GCCCCAAAGGATAATTCATTGTACTCTGTTTTAAAAATCTGGCATATTGATAATCAGATGGATAGATATCAAGGAAATCAAGACAGAGTTTTGAGGCAGGTCACA
GTCATCAGTCGTGAAACATTGACTGATGAGATGGGTTCCAAGTACAGTGCATTTGGGAAAATGTTCAATCGGTGCACAGACCTTGCTCCTTTAAGTCAAAAATTC
CATAAGTTTGATTCATGTGAAAATAGCTTGAAGTCTAATTCAGACTTACTAAATTATAACAGGAGCTATGCAAGAAAGAACCCCACTAAGAGATTTAGATGTGGG
AGACCACCTAAGTATAATGCTTCCTGTTCTGTGCCTGAGAAGGAAGGCTTCATTCATACTGGAATGGAGCCCTATGGAGATAGTCAATGTGAAAAAGTTCTCAGT
CATAAGCAAGCCCATGTTCAGTATAAGAAATTTCAAGCCAGAGAGAAACCCAATGTTTGTAGTATGTGTGGGAAAGCCTTTATCAAGAAGTCACAGCTCATTATA
CATCAAAGAATTCATACTGGAGAGAAACCATATGTATGTGGAGATTGTAGGAAAGCCTTCAGTGAGAAATCACACCTCATTGTGCATCAGAGGATTCATACTGGG
GAGAAACCCTATGAATGTACTAAGTATGGAAGAGCATTCTCCCGGAAGTCACCTTTCACTGTTCATCAGAGAGTCCATACTGGAGAGAAACCCTATGAGTGTTTT
GAGTGTCCAAAAGCTTTCTCCCAGAAGTCACATCTAATTATACATCAGAGAGTTCATACCAGAGAGAAGCCCTTTGAATGCAGTGAATGCAGGAAAGCCTTCTGT
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>ZNF630|57232|protein
MIESQEPVTFEDVAVDFTQEEWQQLNPAQKTLHRDVMLETYNHLVSVGCSGIKPDVIFKLEHGKDPWIIESELSRWIYPDRVKGLESSQQIISGELLFQREILER
APKDNSLYSVLKIWHIDNQMDRYQGNQDRVLRQVTVISRETLTDEMGSKYSAFGKMFNRCTDLAPLSQKFHKFDSCENSLKSNSDLLNYNRSYARKNPTKRFRCG
RPPKYNASCSVPEKEGFIHTGMEPYGDSQCEKVLSHKQAHVQYKKFQAREKPNVCSMCGKAFIKKSQLIIHQRIHTGEKPYVCGDCRKAFSEKSHLIVHQRIHTG
EKPYECTKYGRAFSRKSPFTVHQRVHTGEKPYECFECPKAFSQKSHLIIHQRVHTREKPFECSECRKAFCEMSHLFIHQITHTGKKPYECTECGKTFPRKTQLII
HQRTHTGEKPYKCGECGKTFCQQSHLIGHQRIHTGEKPYVCTDCGKAFSQKSHLTGHQRLHTGEKPYMCTECGKSFSQKSPLIIHQRIHTGEKPYQCGECGKTFS
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
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
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Linkage Studies Top