AutismKB 2.0

Evidence Details for SPG11


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Basic Information Top
Gene Symbol:SPG11 ( DKFZp762B1512,FLJ21439,KIAA1840 )
Gene Full Name: spastic paraplegia 11 (autosomal recessive)
Band: 15q21.1
Quick LinksEntrez ID:80208; OMIM: 610844; Uniprot ID:SPTCS_HUMAN; ENSEMBL ID: ENSG00000104133; HGNC ID: 11226
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SPG11|80208|nucleotide
ATGGCTGCAGAGGAAGGGGTCGCGAGTGCTGCTTCCGCCGGCGGTAGCTGGGGCACCGCGGCCATGGGGCGGGTTCTACCGATGCTGTTGGTGCCAGTCCCCGCC
GAGGCGATGGGGCAGCTCGGCTCCCGGGCGCAGCTGCGCACACAGCCGGAGGCTCTGGGGAGCCTGACGGCTGCGGGCAGCCTCCAAGTGCTTTCTTTGACGCCT
GGCAGCCGGGGCGGGGGTCGCTGCTGCCTGGAGGGCCCCTTCTGGCACTTTCTATGGGAGGATTCTCGTAACAGCAGCACACCAACTGAAAAGCCCAAACTGCTC
GCTCTTGGTGAAAATTATGAACTGCTTATCTATGAATTTAATTTGAAAGATGGAAGATGTGATGCAACCATTTTGTATAGCTGTAGTAGGGAGGCATTGCAAAAG
CTCATTGACGATCAAGATATCAGTATTTCCTTATTGTCTTTGAGAATCCTGTCATTTCACAATAACACATCATTACTGTTCATCAACAAATGTGTCATCCTACAT
ATTATATTTCCTGAAAGAGATGCTGCAATTAGAGTACTCAACTGTTTCACACTTCCCTTGCCTGCACAGGCAGTGGACATGATTATTGACACGCAGCTCTGCAGA
GGAATTCTTTTTGTTTTGAGTAGTTTAGGCTGGATCTACATTTTTGATGTTGTGGATGGTACATATGTAGCTCATGTGGATTTAGCACTTCACAAAGAAGACATG
TGTAATGAGCAGCAACAGGAGCCAGCCAAGATTTCTTCATTTACTTCACTGAAAGTTTCTCAAGACCTCGATGTTGCAGTGATTGTCAGCTCCTCCAACTCCGCA
GTTGCTCTTAACTTAAATTTGTATTTCAGGCAACACCCAGGACACCTACTGTGTGAAAGAATACTAGAAGATCTTCCTATTCAAGGACCTAAGGGCGTAGATGAA
GATGATCCTGTTAACTCTGCCTACAACATGAAACTGGCCAAGTTTTCCTTCCAAATTGATAGGTCTTGGAAAGCCCAGCTATCATCATTGAATGAAACAATAAAG
AACTCCAAACTGGAGGTTTCCTGTTGTGCTCCATGGTTCCAGGATATTTTGCATTTGGAGTCACCTGAATCTGGTAACCACAGTACAAGTGTGCAGAGCTGGGCC
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>SPG11|80208|protein
MAAEEGVASAASAGGSWGTAAMGRVLPMLLVPVPAEAMGQLGSRAQLRTQPEALGSLTAAGSLQVLSLTPGSRGGGRCCLEGPFWHFLWEDSRNSSTPTEKPKLL
ALGENYELLIYEFNLKDGRCDATILYSCSREALQKLIDDQDISISLLSLRILSFHNNTSLLFINKCVILHIIFPERDAAIRVLNCFTLPLPAQAVDMIIDTQLCR
GILFVLSSLGWIYIFDVVDGTYVAHVDLALHKEDMCNEQQQEPAKISSFTSLKVSQDLDVAVIVSSSNSAVALNLNLYFRQHPGHLLCERILEDLPIQGPKGVDE
DDPVNSAYNMKLAKFSFQIDRSWKAQLSSLNETIKNSKLEVSCCAPWFQDILHLESPESGNHSTSVQSWAFIPQDIMHGQYNVLQKDHAKTSDPGRSWKIMHISE
QEEPIELKCVSVTGFTALFTWEVERMGYTITLWDLETQGMQCFSLGTKCIPVDSSGDQQLCFVLTENGLSLILFGLTQEEFLNRLMIHGSASTVDTLCHLNGWGR
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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) 1 (2) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 14 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top