Evidence Details for SMAD5
Basic Information Top
Gene Symbol: | SMAD5 ( DKFZp781C1895,DKFZp781O1323,Dwfc,JV5-1,MADH5 ) |
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Gene Full Name: | SMAD family member 5 |
Band: | 5q31.1 |
Quick Links | Entrez ID:4090; OMIM: 603110; Uniprot ID:SMAD5_HUMAN; ENSEMBL ID: ENSG00000113658; HGNC ID: 6771 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>SMAD5|4090|nucleotide
ATGACGTCAATGGCCAGCTTGTTTTCTTTTACTAGTCCAGCAGTAAAGCGATTGTTGGGCTGGAAACAAGGTGATGAGGAGGAGAAATGGGCAGAAAAGGCAGTT
GATGCTTTGGTGAAGAAACTAAAAAAGAAAAAGGGTGCCATGGAGGAACTGGAGAAAGCCTTGAGCAGTCCAGGACAGCCGAGTAAATGTGTCACTATTCCCAGA
TCTTTAGATGGACGCCTGCAGGTTTCTCACAGAAAAGGCTTACCCCATGTTATATATTGTCGTGTTTGGCGCTGGCCGGATTTGCAGAGTCATCATGAGCTAAAG
CCGTTGGATATTTGTGAATTTCCTTTTGGATCTAAGCAAAAAGAAGTTTGTATCAACCCATACCACTATAAGAGAGTGGAGAGTCCAGTCTTACCTCCAGTATTA
GTGCCTCGTCATAATGAATTCAATCCACAACACAGCCTTCTGGTTCAGTTTAGGAACCTGAGCCACAATGAACCACACATGCCACAAAATGCCACGTTTCCAGAT
TCTTTCCACCAGCCCAACAACACTCCTTTTCCCTTATCTCCAAACAGCCCTTATCCCCCTTCTCCTGCTAGCAGCACATATCCCAACTCCCCAGCAAGTTCTGGA
CCAGGAAGTCCATTTCAGCTCCCAGCTGATACGCCTCCTCCTGCCTATATGCCACCTGATGATCAGATGGGTCAAGATAATTCCCAGCCTATGGATACAAGCAAT
AATATGATTCCTCAGATTATGCCCAGTATATCCAGCAGGGATGTTCAGCCTGTTGCCTATGAAGAGCCTAAACATTGGTGTTCAATAGTCTACTATGAATTAAAC
AATCGTGTTGGAGAAGCTTTTCATGCATCTTCTACTAGTGTGTTAGTAGATGGATTCACAGATCCTTCAAATAACAAAAGTAGATTCTGCTTGGGTTTGTTGTCA
AATGTTAATCGTAATTCGACAATTGAAAACACTAGGCGACATATTGGAAAAGGTGTTCATCTGTACTATGTTGGTGGAGAGGTGTATGCGGAATGCCTCAGTGAC
AGCAGCATATTTGTACAGAGTAGGAACTGCAACTTTCATCATGGCTTTCATCCCACCACTGTCTGTAAGATTCCCAGCAGCTGCAGCCTCAAAATTTTTAACAAT
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ATGACGTCAATGGCCAGCTTGTTTTCTTTTACTAGTCCAGCAGTAAAGCGATTGTTGGGCTGGAAACAAGGTGATGAGGAGGAGAAATGGGCAGAAAAGGCAGTT
GATGCTTTGGTGAAGAAACTAAAAAAGAAAAAGGGTGCCATGGAGGAACTGGAGAAAGCCTTGAGCAGTCCAGGACAGCCGAGTAAATGTGTCACTATTCCCAGA
TCTTTAGATGGACGCCTGCAGGTTTCTCACAGAAAAGGCTTACCCCATGTTATATATTGTCGTGTTTGGCGCTGGCCGGATTTGCAGAGTCATCATGAGCTAAAG
CCGTTGGATATTTGTGAATTTCCTTTTGGATCTAAGCAAAAAGAAGTTTGTATCAACCCATACCACTATAAGAGAGTGGAGAGTCCAGTCTTACCTCCAGTATTA
GTGCCTCGTCATAATGAATTCAATCCACAACACAGCCTTCTGGTTCAGTTTAGGAACCTGAGCCACAATGAACCACACATGCCACAAAATGCCACGTTTCCAGAT
TCTTTCCACCAGCCCAACAACACTCCTTTTCCCTTATCTCCAAACAGCCCTTATCCCCCTTCTCCTGCTAGCAGCACATATCCCAACTCCCCAGCAAGTTCTGGA
CCAGGAAGTCCATTTCAGCTCCCAGCTGATACGCCTCCTCCTGCCTATATGCCACCTGATGATCAGATGGGTCAAGATAATTCCCAGCCTATGGATACAAGCAAT
AATATGATTCCTCAGATTATGCCCAGTATATCCAGCAGGGATGTTCAGCCTGTTGCCTATGAAGAGCCTAAACATTGGTGTTCAATAGTCTACTATGAATTAAAC
AATCGTGTTGGAGAAGCTTTTCATGCATCTTCTACTAGTGTGTTAGTAGATGGATTCACAGATCCTTCAAATAACAAAAGTAGATTCTGCTTGGGTTTGTTGTCA
AATGTTAATCGTAATTCGACAATTGAAAACACTAGGCGACATATTGGAAAAGGTGTTCATCTGTACTATGTTGGTGGAGAGGTGTATGCGGAATGCCTCAGTGAC
AGCAGCATATTTGTACAGAGTAGGAACTGCAACTTTCATCATGGCTTTCATCCCACCACTGTCTGTAAGATTCCCAGCAGCTGCAGCCTCAAAATTTTTAACAAT
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>SMAD5|4090|protein
MTSMASLFSFTSPAVKRLLGWKQGDEEEKWAEKAVDALVKKLKKKKGAMEELEKALSSPGQPSKCVTIPRSLDGRLQVSHRKGLPHVIYCRVWRWPDLQSHHELK
PLDICEFPFGSKQKEVCINPYHYKRVESPVLPPVLVPRHNEFNPQHSLLVQFRNLSHNEPHMPQNATFPDSFHQPNNTPFPLSPNSPYPPSPASSTYPNSPASSG
PGSPFQLPADTPPPAYMPPDDQMGQDNSQPMDTSNNMIPQIMPSISSRDVQPVAYEEPKHWCSIVYYELNNRVGEAFHASSTSVLVDGFTDPSNNKSRFCLGLLS
NVNRNSTIENTRRHIGKGVHLYYVGGEVYAECLSDSSIFVQSRNCNFHHGFHPTTVCKIPSSCSLKIFNNQEFAQLLAQSVNHGFEAVYELTKMCTIRMSFVKGW
GAEYHRQDVTSTPCWIEIHLHGPLQWLDKVLTQMGSPLNPISSVS
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MTSMASLFSFTSPAVKRLLGWKQGDEEEKWAEKAVDALVKKLKKKKGAMEELEKALSSPGQPSKCVTIPRSLDGRLQVSHRKGLPHVIYCRVWRWPDLQSHHELK
PLDICEFPFGSKQKEVCINPYHYKRVESPVLPPVLVPRHNEFNPQHSLLVQFRNLSHNEPHMPQNATFPDSFHQPNNTPFPLSPNSPYPPSPASSTYPNSPASSG
PGSPFQLPADTPPPAYMPPDDQMGQDNSQPMDTSNNMIPQIMPSISSRDVQPVAYEEPKHWCSIVYYELNNRVGEAFHASSTSVLVDGFTDPSNNKSRFCLGLLS
NVNRNSTIENTRRHIGKGVHLYYVGGEVYAECLSDSSIFVQSRNCNFHHGFHPTTVCKIPSSCSLKIFNNQEFAQLLAQSVNHGFEAVYELTKMCTIRMSFVKGW
GAEYHRQDVTSTPCWIEIHLHGPLQWLDKVLTQMGSPLNPISSVS
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Evidence summary Top
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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 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |
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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