AutismKB 2.0

Evidence Details for SPAST


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Basic Information Top
Gene Symbol:SPAST ( ADPSP,FSP2,KIAA1083,SPG4 )
Gene Full Name: spastin
Band: 2p22.3
Quick LinksEntrez ID:6683; OMIM: 604277; Uniprot ID:SPAST_HUMAN; ENSEMBL ID: ENSG00000021574; HGNC ID: 11233
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SPAST|6683|nucleotide
ATGAATTCTCCGGGTGGACGAGGGAAGAAGAAAGGCTCCGGCGGCGCCAGCAACCCGGTGCCTCCCAGGCCTCCGCCCCCTTGCCTGGCCCCCGCCCCTCCCGCC
GCCGGGCCGGCCCCTCCGCCCGAGTCGCCGCATAAGCGGAACCTGTACTATTTCTCCTACCCGCTGTTTGTAGGCTTCGCGCTGCTGCGTTTGGTCGCCTTCCAC
CTGGGGCTCCTCTTCGTGTGGCTCTGCCAGCGCTTCTCCCGCGCCCTCATGGCAGCCAAGAGGAGCTCCGGGGCCGCGCCAGCACCTGCCTCGGCCTCGGCCCCG
GCGCCGGTGCCGGGCGGCGAGGCCGAGCGCGTCCGAGTCTTCCACAAACAGGCCTTCGAGTACATCTCCATTGCCCTGCGCATCGATGAGGATGAGAAAGCAGGA
CAGAAGGAGCAAGCTGTGGAATGGTATAAGAAAGGTATTGAAGAACTGGAAAAAGGAATAGCTGTTATAGTTACAGGACAAGGTGAACAGTGTGAAAGAGCTAGA
CGCCTTCAAGCTAAAATGATGACTAATTTGGTTATGGCCAAGGACCGCTTACAACTTCTAGAGAAGATGCAACCAGTTTTGCCATTTTCCAAGTCACAAACGGAC
GTCTATAATGACAGTACTAACTTGGCATGCCGCAATGGACATCTCCAGTCAGAAAGTGGAGCTGTTCCAAAAAGAAAAGACCCCTTAACACACACTAGTAATTCA
CTGCCTCGTTCAAAAACAGTTATGAAAACTGGATCTGCAGGCCTTTCAGGCCACCATAGAGCACCTAGTTACAGTGGTTTATCCATGGTTTCTGGAGTGAAACAG
GGATCTGGTCCTGCTCCTACCACTCATAAGGGTACTCCGAAAACAAATAGGACAAATAAACCTTCTACCCCTACAACTGCTACTCGTAAGAAAAAAGACTTGAAG
AATTTTAGGAATGTGGACAGCAACCTTGCTAACCTTATAATGAATGAAATTGTGGACAATGGAACAGCTGTTAAATTTGATGATATAGCTGGTCAAGACTTGGCA
AAACAAGCATTGCAAGAAATTGTTATTCTTCCTTCTCTGAGGCCTGAGTTGTTCACAGGGCTTAGAGCTCCTGCCAGAGGGCTGTTACTCTTTGGTCCACCTGGG
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>SPAST|6683|protein
MNSPGGRGKKKGSGGASNPVPPRPPPPCLAPAPPAAGPAPPPESPHKRNLYYFSYPLFVGFALLRLVAFHLGLLFVWLCQRFSRALMAAKRSSGAAPAPASASAP
APVPGGEAERVRVFHKQAFEYISIALRIDEDEKAGQKEQAVEWYKKGIEELEKGIAVIVTGQGEQCERARRLQAKMMTNLVMAKDRLQLLEKMQPVLPFSKSQTD
VYNDSTNLACRNGHLQSESGAVPKRKDPLTHTSNSLPRSKTVMKTGSAGLSGHHRAPSYSGLSMVSGVKQGSGPAPTTHKGTPKTNRTNKPSTPTTATRKKKDLK
NFRNVDSNLANLIMNEIVDNGTAVKFDDIAGQDLAKQALQEIVILPSLRPELFTGLRAPARGLLLFGPPGNGKTMLAKAVAAESNATFFNISAASLTSKYVGEGE
KLVRALFAVARELQPSIIFIDEVDSLLCERREGEHDASRRLKTEFLIEFDGVQSAGDDRVLVMGATNRPQELDEAVLRRFIKRVYVSLPNEETRLLLLKNLLCKQ
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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 (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