Evidence Details for FRMD3
Basic Information Top
Gene Symbol: | FRMD3 ( 4.1O,EPB41L4O,EPB41LO,MGC20553,P410 ) |
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Gene Full Name: | FERM domain containing 3 |
Band: | 9q21.32 |
Quick Links | Entrez ID:257019; OMIM: 607619; Uniprot ID:FRMD3_HUMAN; ENSEMBL ID: ENSG00000172159; HGNC ID: 24125 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>FRMD3|257019|nucleotide
ATGTTCGCCTCCTGCCACTGTGTGCCGAGAGGCAGGAGGACCATGAAAATGATCCACTTTCGGAGCTCCAGCGTCAAATCGCTCAGCCAGGAGATGAGATGCACC
ATCCGGCTGCTGGACGACTCGGAGATCTCCTGCCACATCCAGAGGGAAACCAAAGGGCAGTTTCTCATTGACCACATCTGCAACTACTACAGCCTGCTGGAGAAG
GACTACTTTGGCATTCGCTATGTGGACCCAGAGAAGCAAAGGCACTGGCTTGAACCTAACAAGTCCATCTTCAAGCAAATGAAAACTCATCCACCATACACCATG
TGCTTTAGAGTGAAATTCTACCCACATGAACCCTTGAAGATTAAAGAAGAGCTCACAAGATACCTTTTATACCTTCAGATTAAAAGGGACATTTTTCATGGCCGC
CTGCTGTGCTCCTTTTCTGATGCTGCCTACCTGGGTGCCTGTATTGTTCAAGCTGAGCTTGGTGATTACGATCCTGATGAGCATCCTGAGAATTACATCAGTGAG
TTTGAGATTTTCCCCAAGCAGTCACAGAAGCTGGAAAGAAAAATAGTGGAAATTCATAAAAATGAACTCAGGGGGCAGAGCCCACCAGTTGCTGAATTTAACTTG
CTCCTGAAAGCTCACACTTTGGAAACCTACGGGGTGGATCCTCACCCATGCAAGGATTCAACAGGCACAACAACATTTTTAGGATTCACAGCTGCAGGCTTTGTG
GTCTTTCAGGGAAATAAGAGAATCCATTTGATAAAATGGCCAGATGTCTGCAAATTGAAGTTTGAAGGGAAGACATTTTATGTGATTGGCACCCAGAAGGAGAAA
AAAGCCATGTTGGCATTCCATACTTCAACACCAGCTGCCTGCAAACATCTTTGGAAGTGTGGAGTGGAAAACCAGGCCTTTTATAAGTATGCAAAATCCAGTCAG
ATCAAGACTGTATCAAGCAGCAAGATATTTTTTAAAGGAAGTAGATTTCGATATAGTGGGAAAGTTGCCAAAGAGGTGGTGGAGGCCAGTTCCAAGATCCAGAGG
GAGCCTCCTGAGGTGCACAGAGCCAACATTACTCAGAGCCGCAGTTCCCACTCCTTGAACAAACAGCTCATCATTAACATGGAACCCCTGCAGCCCCTGCTTCCT
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ATGTTCGCCTCCTGCCACTGTGTGCCGAGAGGCAGGAGGACCATGAAAATGATCCACTTTCGGAGCTCCAGCGTCAAATCGCTCAGCCAGGAGATGAGATGCACC
ATCCGGCTGCTGGACGACTCGGAGATCTCCTGCCACATCCAGAGGGAAACCAAAGGGCAGTTTCTCATTGACCACATCTGCAACTACTACAGCCTGCTGGAGAAG
GACTACTTTGGCATTCGCTATGTGGACCCAGAGAAGCAAAGGCACTGGCTTGAACCTAACAAGTCCATCTTCAAGCAAATGAAAACTCATCCACCATACACCATG
TGCTTTAGAGTGAAATTCTACCCACATGAACCCTTGAAGATTAAAGAAGAGCTCACAAGATACCTTTTATACCTTCAGATTAAAAGGGACATTTTTCATGGCCGC
CTGCTGTGCTCCTTTTCTGATGCTGCCTACCTGGGTGCCTGTATTGTTCAAGCTGAGCTTGGTGATTACGATCCTGATGAGCATCCTGAGAATTACATCAGTGAG
TTTGAGATTTTCCCCAAGCAGTCACAGAAGCTGGAAAGAAAAATAGTGGAAATTCATAAAAATGAACTCAGGGGGCAGAGCCCACCAGTTGCTGAATTTAACTTG
CTCCTGAAAGCTCACACTTTGGAAACCTACGGGGTGGATCCTCACCCATGCAAGGATTCAACAGGCACAACAACATTTTTAGGATTCACAGCTGCAGGCTTTGTG
GTCTTTCAGGGAAATAAGAGAATCCATTTGATAAAATGGCCAGATGTCTGCAAATTGAAGTTTGAAGGGAAGACATTTTATGTGATTGGCACCCAGAAGGAGAAA
AAAGCCATGTTGGCATTCCATACTTCAACACCAGCTGCCTGCAAACATCTTTGGAAGTGTGGAGTGGAAAACCAGGCCTTTTATAAGTATGCAAAATCCAGTCAG
ATCAAGACTGTATCAAGCAGCAAGATATTTTTTAAAGGAAGTAGATTTCGATATAGTGGGAAAGTTGCCAAAGAGGTGGTGGAGGCCAGTTCCAAGATCCAGAGG
GAGCCTCCTGAGGTGCACAGAGCCAACATTACTCAGAGCCGCAGTTCCCACTCCTTGAACAAACAGCTCATCATTAACATGGAACCCCTGCAGCCCCTGCTTCCT
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>FRMD3|257019|protein
MFASCHCVPRGRRTMKMIHFRSSSVKSLSQEMRCTIRLLDDSEISCHIQRETKGQFLIDHICNYYSLLEKDYFGIRYVDPEKQRHWLEPNKSIFKQMKTHPPYTM
CFRVKFYPHEPLKIKEELTRYLLYLQIKRDIFHGRLLCSFSDAAYLGACIVQAELGDYDPDEHPENYISEFEIFPKQSQKLERKIVEIHKNELRGQSPPVAEFNL
LLKAHTLETYGVDPHPCKDSTGTTTFLGFTAAGFVVFQGNKRIHLIKWPDVCKLKFEGKTFYVIGTQKEKKAMLAFHTSTPAACKHLWKCGVENQAFYKYAKSSQ
IKTVSSSKIFFKGSRFRYSGKVAKEVVEASSKIQREPPEVHRANITQSRSSHSLNKQLIINMEPLQPLLPSPSEQEEELPLGEGVPLPKEENISAPLISSSPVKA
AREYEDPPSEEEDKIKEEPLTISELVYNPSASLLPTPVDDDEIDMLFDCPSRLELEREDTDSFEDLEADENAFLIAEEEELKEARRALSWSYDILTGHIRVNPLV
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MFASCHCVPRGRRTMKMIHFRSSSVKSLSQEMRCTIRLLDDSEISCHIQRETKGQFLIDHICNYYSLLEKDYFGIRYVDPEKQRHWLEPNKSIFKQMKTHPPYTM
CFRVKFYPHEPLKIKEELTRYLLYLQIKRDIFHGRLLCSFSDAAYLGACIVQAELGDYDPDEHPENYISEFEIFPKQSQKLERKIVEIHKNELRGQSPPVAEFNL
LLKAHTLETYGVDPHPCKDSTGTTTFLGFTAAGFVVFQGNKRIHLIKWPDVCKLKFEGKTFYVIGTQKEKKAMLAFHTSTPAACKHLWKCGVENQAFYKYAKSSQ
IKTVSSSKIFFKGSRFRYSGKVAKEVVEASSKIQREPPEVHRANITQSRSSHSLNKQLIINMEPLQPLLPSPSEQEEELPLGEGVPLPKEENISAPLISSSPVKA
AREYEDPPSEEEDKIKEEPLTISELVYNPSASLLPTPVDDDEIDMLFDCPSRLELEREDTDSFEDLEADENAFLIAEEEELKEARRALSWSYDILTGHIRVNPLV
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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 |
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Score (No. of Studies) | No | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | (0) |
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. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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