Evidence Details for ZNF423
Basic Information Top
Gene Symbol: | ZNF423 ( Ebfaz,KIAA0760,MGC138520,MGC138522,OAZ,Roaz,ZFP423,Zfp104 ) |
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Gene Full Name: | zinc finger protein 423 |
Band: | 16q12.1 |
Quick Links | Entrez ID:23090; OMIM: 604557; Uniprot ID:ZN423_HUMAN; ENSEMBL ID: ENSG00000102935; HGNC ID: 16762 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ZNF423|23090|nucleotide
ATGCATAAGAAGAGGGTTGAAGAGGGGGAGGCCTCAGACTTCTCGCTGGCCTGGGATTCCTCCGTGACAGCAGCAGGAGGCCTAGAAGGAGAGCCAGAGTGCGAT
CAGAAAACCAGCCGTGCGCTGGAAGACAGGAACAGCGTGACAAGTCAAGAGGAGAGAAATGAGGATGATGAAGACATGGAGGATGAATCAATTTACACCTGCGAT
CACTGTCAGCAGGACTTCGAGTCTCTGGCAGACCTGACGGACCACCGGGCCCACCGCTGTCCTGGAGATGGTGATGACGACCCACAACTCTCCTGGGTGGCCTCG
TCTCCCTCCAGCAAGGATGTTGCGTCACCCACGCAGATGATCGGAGATGGTTGTGACCTCGGCCTCGGCGAGGAGGAAGGGGGCACGGGCCTGCCATACCCTTGC
CAGTTCTGCGACAAGTCCTTCATCCGCTTGAGCTACTTGAAGAGGCACGAGCAGATCCACAGCGACAAGCTGCCGTTCAAGTGCACCTACTGCAGCCGCCTCTTC
AAGCACAAGAGGAGCCGCGACCGGCACATCAAGCTGCATACGGGCGACAAGAAGTATCACTGCCACGAGTGCGAGGCAGCCTTCTCCCGCAGCGACCACCTCAAG
ATCCACCTGAAGACCCACAGCTCCAGCAAGCCCTTCAAGTGCACTGTGTGCAAGCGCGGCTTCTCCTCCACCAGCTCGCTGCAGAGCCACATGCAGGCCCACAAA
AAGAACAAGGAGCATCTGGCCAAGTCGGAGAAGGAAGCCAAGAAGGACGACTTCATGTGCGACTACTGCGAGGACACCTTCAGCCAGACGGAGGAGCTGGAGAAG
CACGTGCTCACCCGCCACCCGCAGCTGTCCGAGAAGGCGGACCTGCAGTGCATTCACTGCCCTGAGGTCTTCGTCGACGAGAACACACTGCTCGCCCATATCCAC
CAAGCCCACGCCAACCAGAAACACAAGTGCCCCATGTGCCCTGAGCAGTTCTCCTCAGTGGAAGGTGTCTACTGCCACCTGGACAGCCACCGGCAGCCCGACTCC
AGCAACCACAGTGTCAGTCCCGACCCTGTACTGGGCAGCGTGGCCTCCATGAGCAGCGCCACACCCGACTCCAGCGCCTCTGTGGAGCGTGGCTCCACCCCGGAC
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ATGCATAAGAAGAGGGTTGAAGAGGGGGAGGCCTCAGACTTCTCGCTGGCCTGGGATTCCTCCGTGACAGCAGCAGGAGGCCTAGAAGGAGAGCCAGAGTGCGAT
CAGAAAACCAGCCGTGCGCTGGAAGACAGGAACAGCGTGACAAGTCAAGAGGAGAGAAATGAGGATGATGAAGACATGGAGGATGAATCAATTTACACCTGCGAT
CACTGTCAGCAGGACTTCGAGTCTCTGGCAGACCTGACGGACCACCGGGCCCACCGCTGTCCTGGAGATGGTGATGACGACCCACAACTCTCCTGGGTGGCCTCG
TCTCCCTCCAGCAAGGATGTTGCGTCACCCACGCAGATGATCGGAGATGGTTGTGACCTCGGCCTCGGCGAGGAGGAAGGGGGCACGGGCCTGCCATACCCTTGC
CAGTTCTGCGACAAGTCCTTCATCCGCTTGAGCTACTTGAAGAGGCACGAGCAGATCCACAGCGACAAGCTGCCGTTCAAGTGCACCTACTGCAGCCGCCTCTTC
AAGCACAAGAGGAGCCGCGACCGGCACATCAAGCTGCATACGGGCGACAAGAAGTATCACTGCCACGAGTGCGAGGCAGCCTTCTCCCGCAGCGACCACCTCAAG
ATCCACCTGAAGACCCACAGCTCCAGCAAGCCCTTCAAGTGCACTGTGTGCAAGCGCGGCTTCTCCTCCACCAGCTCGCTGCAGAGCCACATGCAGGCCCACAAA
AAGAACAAGGAGCATCTGGCCAAGTCGGAGAAGGAAGCCAAGAAGGACGACTTCATGTGCGACTACTGCGAGGACACCTTCAGCCAGACGGAGGAGCTGGAGAAG
CACGTGCTCACCCGCCACCCGCAGCTGTCCGAGAAGGCGGACCTGCAGTGCATTCACTGCCCTGAGGTCTTCGTCGACGAGAACACACTGCTCGCCCATATCCAC
CAAGCCCACGCCAACCAGAAACACAAGTGCCCCATGTGCCCTGAGCAGTTCTCCTCAGTGGAAGGTGTCTACTGCCACCTGGACAGCCACCGGCAGCCCGACTCC
AGCAACCACAGTGTCAGTCCCGACCCTGTACTGGGCAGCGTGGCCTCCATGAGCAGCGCCACACCCGACTCCAGCGCCTCTGTGGAGCGTGGCTCCACCCCGGAC
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>ZNF423|23090|protein
MHKKRVEEGEASDFSLAWDSSVTAAGGLEGEPECDQKTSRALEDRNSVTSQEERNEDDEDMEDESIYTCDHCQQDFESLADLTDHRAHRCPGDGDDDPQLSWVAS
SPSSKDVASPTQMIGDGCDLGLGEEEGGTGLPYPCQFCDKSFIRLSYLKRHEQIHSDKLPFKCTYCSRLFKHKRSRDRHIKLHTGDKKYHCHECEAAFSRSDHLK
IHLKTHSSSKPFKCTVCKRGFSSTSSLQSHMQAHKKNKEHLAKSEKEAKKDDFMCDYCEDTFSQTEELEKHVLTRHPQLSEKADLQCIHCPEVFVDENTLLAHIH
QAHANQKHKCPMCPEQFSSVEGVYCHLDSHRQPDSSNHSVSPDPVLGSVASMSSATPDSSASVERGSTPDSTLKPLRGQKKMRDDGQGWTKVVYSCPYCSKRDFN
SLAVLEIHLKTIHADKPQQSHTCQICLDSMPTLYNLNEHVRKLHKNHAYPVMQFGNISAFHCNYCPEMFADINSLQEHIRVSHCGPNANPSDGNNAFFCNQCSMG
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MHKKRVEEGEASDFSLAWDSSVTAAGGLEGEPECDQKTSRALEDRNSVTSQEERNEDDEDMEDESIYTCDHCQQDFESLADLTDHRAHRCPGDGDDDPQLSWVAS
SPSSKDVASPTQMIGDGCDLGLGEEEGGTGLPYPCQFCDKSFIRLSYLKRHEQIHSDKLPFKCTYCSRLFKHKRSRDRHIKLHTGDKKYHCHECEAAFSRSDHLK
IHLKTHSSSKPFKCTVCKRGFSSTSSLQSHMQAHKKNKEHLAKSEKEAKKDDFMCDYCEDTFSQTEELEKHVLTRHPQLSEKADLQCIHCPEVFVDENTLLAHIH
QAHANQKHKCPMCPEQFSSVEGVYCHLDSHRQPDSSNHSVSPDPVLGSVASMSSATPDSSASVERGSTPDSTLKPLRGQKKMRDDGQGWTKVVYSCPYCSKRDFN
SLAVLEIHLKTIHADKPQQSHTCQICLDSMPTLYNLNEHVRKLHKNHAYPVMQFGNISAFHCNYCPEMFADINSLQEHIRVSHCGPNANPSDGNNAFFCNQCSMG
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (3) | 0 (0) | 0 (0) | 0 (0) | 22 (5) |
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
CAUCASIAN | |||||||||||
Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) | ASD | - - |
- - |
Case Control Based Association Studies: 0
Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
No Evidence. |
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Egger G, 2014 | Austria | Microarray | - | - | ASD | 73 | - | - | - | 245 | 2357 | - |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
Fromer M, 2014 | - | - | 94 | De novo mutations in schizophrenia implicate synaptic networks. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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