AutismKB 2.0

Evidence Details for ZMIZ2


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Basic Information Top
Gene Symbol:ZMIZ2 ( DKFZp761I2123,KIAA1886,NET27,TRAFIP20,ZIMP7,hZIMP7 )
Gene Full Name: zinc finger, MIZ-type containing 2
Band: 7p13
Quick LinksEntrez ID:83637; OMIM: 611196; Uniprot ID:ZMIZ2_HUMAN; ENSEMBL ID: ENSG00000122515; HGNC ID: 22229
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZMIZ2|83637|nucleotide
ATGAACTCCATGAACCCCATGAAACCTGCCCTGCCCCCTGCGCCACACGGTGATGGTTCATTCGCATATGAGTCTGTGCCTTGGCAACAAAGCGCCACTCAGCCG
GCTGGATCGCTGTCTGTGGTCACTACTGTGTGGGGAGTTGGCAACGCGACACAGAGCCAGGTTTTGGGGAACCCCATGGGCCCTGCAGGGAGTCCCTCTGGCAGC
TCCATGATGCCTGGTGTGGCAGGGGGCAGCTCCGCCTTGACCTCCCCACAGTGCCTGGGACAGCAGGCGTTTGCTGAAGGCGGCGCCAACAAGGGCTACGTGCAG
CAAGGCGTGTACAGCCGCGGGGGCTACCCTGGGGCCCCCGGCTTCACCACCGGGTATGCAGGCGGCCCGGGGGGCCTGGGCCTCCCCTCACATGCTGCAAGACCC
TCCACTGACTTCACGCAAGCGGCAGCTGCTGCAGCTGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACCGTGGCTGCTCTCCAGGAGAAGCAG
AGCCAGGAGCTGAGCCAGTATGGAGCGATGGGGGCCGGACAGTCTTTTAACAGCCAGTTTCTGCAGCATGGAGGTCCCCGGGGGCCTAGTGTCCCCGCTGGCATG
AACCCTACTGGCATAGGAGGGGTAATGGGCCCCTCTGGCCTCTCCCCCTTGGCTATGAACCCCACCCGGGCAGCAGGAATGACACCCTTGTATGCAGGGCAGCGT
CTGCCCCAACATGGGTATCCTGGGCCTCCCCAGGCCCAGCCACTGCCCCGACAGGGGGTCAAGAGAACCTACTCTGAGGTGTATCCAGGGCAGCAGTATCTGCAA
GGAGGCCAGTATGCACCCAGCACCGCCCAGTTTGCGCCCAGCCCTGGGCAGCCCCCTGCCCCCTCCCCTTCCTACCCTGGGCACAGGCTGCCCCTGCAGCAGGGC
ATGACCCAGTCCCTGTCCGTGCCTGGCCCCACGGGACTGCATTATAAGCCCACAGAGCAGTTCAACGGGCAGGGCGCCAGCTTCAACGGGGGCAGCGTCAGCTAC
AGCCAACCTGGCCTGAGTGGGCCTACCCGTTCCATCCCGGGCTATCCCAGTTCCCCACTGCCAGGGAACCCCACGCCACCCATGACCCCAAGCAGCAGCGTCCCT
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>ZMIZ2|83637|protein
MNSMNPMKPALPPAPHGDGSFAYESVPWQQSATQPAGSLSVVTTVWGVGNATQSQVLGNPMGPAGSPSGSSMMPGVAGGSSALTSPQCLGQQAFAEGGANKGYVQ
QGVYSRGGYPGAPGFTTGYAGGPGGLGLPSHAARPSTDFTQAAAAAAVAAAAATATATATATVAALQEKQSQELSQYGAMGAGQSFNSQFLQHGGPRGPSVPAGM
NPTGIGGVMGPSGLSPLAMNPTRAAGMTPLYAGQRLPQHGYPGPPQAQPLPRQGVKRTYSEVYPGQQYLQGGQYAPSTAQFAPSPGQPPAPSPSYPGHRLPLQQG
MTQSLSVPGPTGLHYKPTEQFNGQGASFNGGSVSYSQPGLSGPTRSIPGYPSSPLPGNPTPPMTPSSSVPYMSPNQEVKSPFLPDLKPNLNSLHSSPSGSGPCDE
LRLTFPVRDGVVLEPFRLQHNLAVSNHVFQLRDSVYKTLIMRPDLELQFKCYHHEDRQMNTNWPASVQVSVNATPLTIERGDNKTSHKPLYLKHVCQPGRNTIQI
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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 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 4 (3)
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
Wolpert, 2001 - FISHautism - - - - 1 - 1
Linkage Studies Top