AutismKB 2.0

Evidence Details for SMAD5


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Basic Information Top
Gene Symbol:SMAD5 ( DKFZp781C1895,DKFZp781O1323,Dwfc,JV5-1,MADH5 )
Gene Full Name: SMAD family member 5
Band: 5q31.1
Quick LinksEntrez 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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>SMAD5|4090|protein
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