Evidence Details for ZBED2
Basic Information Top
Gene Symbol: | ZBED2 ( MGC10796 ) |
---|---|
Gene Full Name: | zinc finger, BED-type containing 2 |
Band: | 3q13.13 |
Quick Links | Entrez ID:79413; OMIM: NA; Uniprot ID:ZBED2_HUMAN; ENSEMBL ID: ENSG00000177494; HGNC ID: 20710 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ZBED2|79413|nucleotide
ATGATGAGGCGGGAAGACGAGGAAGAGGAGGGAACAATGATGAAGGCAAAAGGGGACTTAGAGATGAAGGAGGAGGAAGAGATTAGTGAGACAGGAGAACTGGTT
GGCCCTTTTGTGAGTGCTATGCCCACTCCAATGCCCCACAACAAGGGCACCCGGTTCTCTGAGGCATGGGAATATTTCCACCTAGCTCCTGCTCGTGCTGGGCAC
CATCCCAACCAGTATGCCACCTGCCGCCTGTGTGGCAGGCAGGTGAGCCGTGGCCCTGGGGTCAACGTGGGCACCACTGCACTGTGGAAGCATCTGAAAAGCATG
CACAGAGAGGAGCTGGAGAAGAGTGGCCATGGTCAGGCTGGGCAGCGCCAGGATCCAAGGCCCCACGGGCCCCAGCTCCCCACAGGCATTGAGGGTAACTGGGGT
AGGCTCCTGGAGCAGGTGGGCACCATGGCTTTGTGGGCCAGCCAAAGGGAAAAGGAGGTGCTTAGGAGGGAAAGGGCAGTGGAATGGCGGGAGAGGGCTGTGGAA
AAAAGGGAGCGAGCCCTGGAGGAGGTGGAAAGGGCCATCCTGGAGATGAAGTGGAAGGTGAGGGCTGAGAAGGAGGCATGCCAGCGGGAGAAAGAGCTGCCTGCA
GCAGTACATCCCTTCCATTTTGTTTAA
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ATGATGAGGCGGGAAGACGAGGAAGAGGAGGGAACAATGATGAAGGCAAAAGGGGACTTAGAGATGAAGGAGGAGGAAGAGATTAGTGAGACAGGAGAACTGGTT
GGCCCTTTTGTGAGTGCTATGCCCACTCCAATGCCCCACAACAAGGGCACCCGGTTCTCTGAGGCATGGGAATATTTCCACCTAGCTCCTGCTCGTGCTGGGCAC
CATCCCAACCAGTATGCCACCTGCCGCCTGTGTGGCAGGCAGGTGAGCCGTGGCCCTGGGGTCAACGTGGGCACCACTGCACTGTGGAAGCATCTGAAAAGCATG
CACAGAGAGGAGCTGGAGAAGAGTGGCCATGGTCAGGCTGGGCAGCGCCAGGATCCAAGGCCCCACGGGCCCCAGCTCCCCACAGGCATTGAGGGTAACTGGGGT
AGGCTCCTGGAGCAGGTGGGCACCATGGCTTTGTGGGCCAGCCAAAGGGAAAAGGAGGTGCTTAGGAGGGAAAGGGCAGTGGAATGGCGGGAGAGGGCTGTGGAA
AAAAGGGAGCGAGCCCTGGAGGAGGTGGAAAGGGCCATCCTGGAGATGAAGTGGAAGGTGAGGGCTGAGAAGGAGGCATGCCAGCGGGAGAAAGAGCTGCCTGCA
GCAGTACATCCCTTCCATTTTGTTTAA
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>ZBED2|79413|protein
MMRREDEEEEGTMMKAKGDLEMKEEEEISETGELVGPFVSAMPTPMPHNKGTRFSEAWEYFHLAPARAGHHPNQYATCRLCGRQVSRGPGVNVGTTALWKHLKSM
HREELEKSGHGQAGQRQDPRPHGPQLPTGIEGNWGRLLEQVGTMALWASQREKEVLRRERAVEWRERAVEKRERALEEVERAILEMKWKVRAEKEACQREKELPA
AVHPFHFV
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MMRREDEEEEGTMMKAKGDLEMKEEEEISETGELVGPFVSAMPTPMPHNKGTRFSEAWEYFHLAPARAGHHPNQYATCRLCGRQVSRGPGVNVGTTALWKHLKSM
HREELEKSGHGQAGQRQDPRPHGPQLPTGIEGNWGRLLEQVGTMALWASQREKEVLRRERAVEWRERAVEKRERALEEVERAILEMKWKVRAEKEACQREKELPA
AVHPFHFV
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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 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (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 | ||||||
Pinto, 2010 | - | SNP microarray, qPCR | ASD | - | - | - | - | 996 | 1287 | 2283 |
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 |
---|---|---|---|---|
O'Roak BJ, 2012 | 1703 | 209 | 242 | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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