Evidence Details for G2E3
Basic Information Top
Gene Symbol: | G2E3 ( FLJ20333,KIAA1333,PHF7B ) |
---|---|
Gene Full Name: | G2/M-phase specific E3 ubiquitin protein ligase |
Band: | 14q12 |
Quick Links | Entrez ID:55632; OMIM: 611299; Uniprot ID:G2E3_HUMAN; ENSEMBL ID: ENSG00000092140; HGNC ID: 20338 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>G2E3|55632|nucleotide
ATGAATGAAAGTAAACCTGGTGACTCACAGAACCTTGCTTGTGTTTTCTGTCGAAAACATGATGACTGTCCTAATAAATACGGAGAAAAGAAAACTAAGGAGAAA
TGGAATCTCACTGTACATTACTACTGTTTGTTGATGTCAAGTGGAATTTGGCAGAGAGGCAAAGAAGAAGAAGGAGTTTATGGTTTTCTAATAGAAGATATCAGG
AAGGAAGTGAATAGAGCTTCTAAACTGAAATGCTGTGTTTGCAAGAAAAATGGTGCTTCAATTGGATGTGTTGCACCCCGATGTAAACGAAGTTATCATTTCCCA
TGTGGACTTCAGAGAGAATGTATTTTCCAGTTTACTGGCAATTTTGCGTCATTTTGTTGGGACCATCGACCTGTTCAAATAATTACATCTAATAATTATAGAGAG
TCCTTACCATGCACCATTTGCTTGGAATTTATTGAGCCTATTCCAAGTTATAACATATTACGAAGTCCTTGTTGTAAGAACGCTTGGTTTCATAGAGACTGTTTA
CAGGTTCAAGCAATAAATGCGGGAGTGTTTTTCTTTAGGTGTACAATATGCAATAATAGTGACATCTTTCAGAAAGAGATGTTGAGAATGGGAATTCATATTCCT
GAAAAAGATGCTTCCTGGGAATTAGAGGAAAACGCTTATCAAGAGCTTCTGCAGCACTATGAGCGTTGTGATGTTCGAAGATGTCGTTGCAAAGAAGGGCGAGAC
TATAATGCACCTGATAGCAAATGGGAAATAAAGCGCTGTCAGTGTTGTGGTTCCAGTGGCACACATTTAGCCTGCTCCTCATTACGGTCATGGGAGCAAAATTGG
GAGTGTTTGGAATGTAGGGGTATTATCTACAATTCAGGAGAGTTCCAAAAAGCCAAAAAACATGTATTACCCAATTCTAATAATGTGGGGATTACAGATTGTTTG
TTGGAAGAGTCATCACCTAAATTACCCAGACAGTCACCTGGATCCCAGAGTAAAGATCTACTGAGGCAAGGCAGCAAATTTAGAAGAAATGTATCAACACTATTA
ATAGAGTTAGGATTCCAAATTAAAAAAAAAACTAAAAGATTGTATATCAACAAAGCCAATATCTGGAATAGTGCCTTAGATGCATTCAGAAATCGAAACTTTAAT
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ATGAATGAAAGTAAACCTGGTGACTCACAGAACCTTGCTTGTGTTTTCTGTCGAAAACATGATGACTGTCCTAATAAATACGGAGAAAAGAAAACTAAGGAGAAA
TGGAATCTCACTGTACATTACTACTGTTTGTTGATGTCAAGTGGAATTTGGCAGAGAGGCAAAGAAGAAGAAGGAGTTTATGGTTTTCTAATAGAAGATATCAGG
AAGGAAGTGAATAGAGCTTCTAAACTGAAATGCTGTGTTTGCAAGAAAAATGGTGCTTCAATTGGATGTGTTGCACCCCGATGTAAACGAAGTTATCATTTCCCA
TGTGGACTTCAGAGAGAATGTATTTTCCAGTTTACTGGCAATTTTGCGTCATTTTGTTGGGACCATCGACCTGTTCAAATAATTACATCTAATAATTATAGAGAG
TCCTTACCATGCACCATTTGCTTGGAATTTATTGAGCCTATTCCAAGTTATAACATATTACGAAGTCCTTGTTGTAAGAACGCTTGGTTTCATAGAGACTGTTTA
CAGGTTCAAGCAATAAATGCGGGAGTGTTTTTCTTTAGGTGTACAATATGCAATAATAGTGACATCTTTCAGAAAGAGATGTTGAGAATGGGAATTCATATTCCT
GAAAAAGATGCTTCCTGGGAATTAGAGGAAAACGCTTATCAAGAGCTTCTGCAGCACTATGAGCGTTGTGATGTTCGAAGATGTCGTTGCAAAGAAGGGCGAGAC
TATAATGCACCTGATAGCAAATGGGAAATAAAGCGCTGTCAGTGTTGTGGTTCCAGTGGCACACATTTAGCCTGCTCCTCATTACGGTCATGGGAGCAAAATTGG
GAGTGTTTGGAATGTAGGGGTATTATCTACAATTCAGGAGAGTTCCAAAAAGCCAAAAAACATGTATTACCCAATTCTAATAATGTGGGGATTACAGATTGTTTG
TTGGAAGAGTCATCACCTAAATTACCCAGACAGTCACCTGGATCCCAGAGTAAAGATCTACTGAGGCAAGGCAGCAAATTTAGAAGAAATGTATCAACACTATTA
ATAGAGTTAGGATTCCAAATTAAAAAAAAAACTAAAAGATTGTATATCAACAAAGCCAATATCTGGAATAGTGCCTTAGATGCATTCAGAAATCGAAACTTTAAT
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>G2E3|55632|protein
MNESKPGDSQNLACVFCRKHDDCPNKYGEKKTKEKWNLTVHYYCLLMSSGIWQRGKEEEGVYGFLIEDIRKEVNRASKLKCCVCKKNGASIGCVAPRCKRSYHFP
CGLQRECIFQFTGNFASFCWDHRPVQIITSNNYRESLPCTICLEFIEPIPSYNILRSPCCKNAWFHRDCLQVQAINAGVFFFRCTICNNSDIFQKEMLRMGIHIP
EKDASWELEENAYQELLQHYERCDVRRCRCKEGRDYNAPDSKWEIKRCQCCGSSGTHLACSSLRSWEQNWECLECRGIIYNSGEFQKAKKHVLPNSNNVGITDCL
LEESSPKLPRQSPGSQSKDLLRQGSKFRRNVSTLLIELGFQIKKKTKRLYINKANIWNSALDAFRNRNFNPSYAIEVAYVIENDNFGSEHPGSKQEFLSLLMQHL
ENSSLFEGSLSKNLSLNSQALKENLYYEAGKMLAISLVHGGPSPGFFSKTLFNCLVYGPENTQPILDDVSDFDVAQIIIRINTATTVADLKSIINECYNYLELIG
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MNESKPGDSQNLACVFCRKHDDCPNKYGEKKTKEKWNLTVHYYCLLMSSGIWQRGKEEEGVYGFLIEDIRKEVNRASKLKCCVCKKNGASIGCVAPRCKRSYHFP
CGLQRECIFQFTGNFASFCWDHRPVQIITSNNYRESLPCTICLEFIEPIPSYNILRSPCCKNAWFHRDCLQVQAINAGVFFFRCTICNNSDIFQKEMLRMGIHIP
EKDASWELEENAYQELLQHYERCDVRRCRCKEGRDYNAPDSKWEIKRCQCCGSSGTHLACSSLRSWEQNWECLECRGIIYNSGEFQKAKKHVLPNSNNVGITDCL
LEESSPKLPRQSPGSQSKDLLRQGSKFRRNVSTLLIELGFQIKKKTKRLYINKANIWNSALDAFRNRNFNPSYAIEVAYVIENDNFGSEHPGSKQEFLSLLMQHL
ENSSLFEGSLSKNLSLNSQALKENLYYEAGKMLAISLVHGGPSPGFFSKTLFNCLVYGPENTQPILDDVSDFDVAQIIIRINTATTVADLKSIINECYNYLELIG
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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 (0) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Bailey, 1998 | - | microsatellite-based genomic screen | PDD | 99 | - | 99 | - | - | - | - | ||
Auranen, 2002 | Finland | microsatellite-based genomic screen | autism | 19 | - | 19 | - | 54 | - | - | ||
Ma, 2007 | USA | SNP-based genomic screen | autism | 26 | - | 26 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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