Evidence Details for EFR3B
Basic Information Top
Gene Symbol: | EFR3B ( KIAA0953 ) |
---|---|
Gene Full Name: | EFR3 homolog B (S. cerevisiae) |
Band: | 2p23.3 |
Quick Links | Entrez ID:22979; OMIM: NA; Uniprot ID:EFR3B_HUMAN; ENSEMBL ID: ENSG00000084710; HGNC ID: 29155 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>EFR3B|22979|nucleotide
ATGTACGGTGTGTGTGGCTGCTGTGGTGCCCTACGCCCCAGGTACAAAAGGCTGGTTGACAACATCTTCCCTGAGGATCCCGAGGATGGTCTGGTGAAGACCAAC
ATGGAGAAGCTGACCTTCTATGCCCTCTCAGCTCCAGAAAAACTTGATCGTATTGGCGCCTACCTCTCTGAGAGGCTCATCCGTGACGTGGGTCGCCATCGATAT
GGGTACGTGTGCATTGCTATGGAGGCTTTGGACCAGCTGCTCATGGCCTGCCACTGCCAGAGCATCAACCTCTTCGTGGAGAGCTTCCTCAAGATGGTGGCCAAG
CTGCTGGAGTCAGAGAAACCCAACCTGCAGATCCTCGGCACCAACTCGTTTGTGAAGTTTGCCAACATCGAGGAGGACACCCCGTCCTATCACCGGAGCTATGAC
TTCTTTGTGTCCCGATTCAGTGAAATGTGCCACTCGAGCCATGATGACTTAGAAATCAAGACCAAAATTCGAATGTCAGGCATCAAAGGCCTGCAAGGGGTGGTG
AGGAAGACGGTGAATGATGAACTGCAGGCCAATATCTGGGACCCACAGCACATGGATAAGATCGTTCCATCACTGCTTTTCAATCTACAGCATGTAGAGGAGGCA
GAGAGCCGGTCTCCCTCACCCCTCCAAGCACCTGAGAAGGAGAAAGAGAGCCCCGCGGAGCTGGCTGAGAGGTGTCTTCGGGAGCTGCTGGGCCGGGCTGCCTTT
GGCAACATCAAAAACGCCATCAAGCCTGTTCTCATCCATCTGGATAACCATTCTCTTTGGGAACCCAAGGTGTTTGCCATCCGTTGCTTTAAAATCATCATGTAC
TCAATTCAGCCGCAGCACTCACACCTGGTCATCCAGCAGCTCCTGGGCCACCTGGACGCCAACAGCCGCAGCGCTGCGACGGTGCGCGCGGGCATCGTGGAAGTC
TTGTCGGAAGCCGCGGTCATCGCTGCCACCGGCTCTGTGGGGCCCACAGTACTGGAGATGTTCAACACGCTGCTGAGGCAGCTGCGGCTCAGCATCGACTACGCG
CTGACCGGGAGCTACGACGGGGCGGTCAGCCTCGGCACCAAGATCATCAAGGAGCACGAGGAGCGCATGTTCCAGGAGGCCGTCATCAAGACCGTGGGCTCCTTT
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ATGTACGGTGTGTGTGGCTGCTGTGGTGCCCTACGCCCCAGGTACAAAAGGCTGGTTGACAACATCTTCCCTGAGGATCCCGAGGATGGTCTGGTGAAGACCAAC
ATGGAGAAGCTGACCTTCTATGCCCTCTCAGCTCCAGAAAAACTTGATCGTATTGGCGCCTACCTCTCTGAGAGGCTCATCCGTGACGTGGGTCGCCATCGATAT
GGGTACGTGTGCATTGCTATGGAGGCTTTGGACCAGCTGCTCATGGCCTGCCACTGCCAGAGCATCAACCTCTTCGTGGAGAGCTTCCTCAAGATGGTGGCCAAG
CTGCTGGAGTCAGAGAAACCCAACCTGCAGATCCTCGGCACCAACTCGTTTGTGAAGTTTGCCAACATCGAGGAGGACACCCCGTCCTATCACCGGAGCTATGAC
TTCTTTGTGTCCCGATTCAGTGAAATGTGCCACTCGAGCCATGATGACTTAGAAATCAAGACCAAAATTCGAATGTCAGGCATCAAAGGCCTGCAAGGGGTGGTG
AGGAAGACGGTGAATGATGAACTGCAGGCCAATATCTGGGACCCACAGCACATGGATAAGATCGTTCCATCACTGCTTTTCAATCTACAGCATGTAGAGGAGGCA
GAGAGCCGGTCTCCCTCACCCCTCCAAGCACCTGAGAAGGAGAAAGAGAGCCCCGCGGAGCTGGCTGAGAGGTGTCTTCGGGAGCTGCTGGGCCGGGCTGCCTTT
GGCAACATCAAAAACGCCATCAAGCCTGTTCTCATCCATCTGGATAACCATTCTCTTTGGGAACCCAAGGTGTTTGCCATCCGTTGCTTTAAAATCATCATGTAC
TCAATTCAGCCGCAGCACTCACACCTGGTCATCCAGCAGCTCCTGGGCCACCTGGACGCCAACAGCCGCAGCGCTGCGACGGTGCGCGCGGGCATCGTGGAAGTC
TTGTCGGAAGCCGCGGTCATCGCTGCCACCGGCTCTGTGGGGCCCACAGTACTGGAGATGTTCAACACGCTGCTGAGGCAGCTGCGGCTCAGCATCGACTACGCG
CTGACCGGGAGCTACGACGGGGCGGTCAGCCTCGGCACCAAGATCATCAAGGAGCACGAGGAGCGCATGTTCCAGGAGGCCGTCATCAAGACCGTGGGCTCCTTT
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>EFR3B|22979|protein
MYGVCGCCGALRPRYKRLVDNIFPEDPEDGLVKTNMEKLTFYALSAPEKLDRIGAYLSERLIRDVGRHRYGYVCIAMEALDQLLMACHCQSINLFVESFLKMVAK
LLESEKPNLQILGTNSFVKFANIEEDTPSYHRSYDFFVSRFSEMCHSSHDDLEIKTKIRMSGIKGLQGVVRKTVNDELQANIWDPQHMDKIVPSLLFNLQHVEEA
ESRSPSPLQAPEKEKESPAELAERCLRELLGRAAFGNIKNAIKPVLIHLDNHSLWEPKVFAIRCFKIIMYSIQPQHSHLVIQQLLGHLDANSRSAATVRAGIVEV
LSEAAVIAATGSVGPTVLEMFNTLLRQLRLSIDYALTGSYDGAVSLGTKIIKEHEERMFQEAVIKTVGSFASTLPTYQRSEVILFIMSKVPRPSLHQAVDTGRTG
ENRNRLTQIMLLKSLLQVSTGFQCNNMMSALPSNFLDRLLSTALMEDAEIRLFVLEILISFIDRHGNRHKFSTISTLSDISVLKLKVDKCSRQDTVFMKKHSQQL
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MYGVCGCCGALRPRYKRLVDNIFPEDPEDGLVKTNMEKLTFYALSAPEKLDRIGAYLSERLIRDVGRHRYGYVCIAMEALDQLLMACHCQSINLFVESFLKMVAK
LLESEKPNLQILGTNSFVKFANIEEDTPSYHRSYDFFVSRFSEMCHSSHDDLEIKTKIRMSGIKGLQGVVRKTVNDELQANIWDPQHMDKIVPSLLFNLQHVEEA
ESRSPSPLQAPEKEKESPAELAERCLRELLGRAAFGNIKNAIKPVLIHLDNHSLWEPKVFAIRCFKIIMYSIQPQHSHLVIQQLLGHLDANSRSAATVRAGIVEV
LSEAAVIAATGSVGPTVLEMFNTLLRQLRLSIDYALTGSYDGAVSLGTKIIKEHEERMFQEAVIKTVGSFASTLPTYQRSEVILFIMSKVPRPSLHQAVDTGRTG
ENRNRLTQIMLLKSLLQVSTGFQCNNMMSALPSNFLDRLLSTALMEDAEIRLFVLEILISFIDRHGNRHKFSTISTLSDISVLKLKVDKCSRQDTVFMKKHSQQL
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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) | 0 (0) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (2) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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 |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
C Yuen RK, 2017 | 1625 | - | 237 | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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