AutismKB 2.0

Evidence Details for SPG20


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Basic Information Top
Gene Symbol:SPG20 ( KIAA0610,SPARTIN,TAHCCP1 )
Gene Full Name: spastic paraplegia 20 (Troyer syndrome)
Band: 13q13.3
Quick LinksEntrez ID:23111; OMIM: 607111; Uniprot ID:SPG20_HUMAN; ENSEMBL ID: ENSG00000133104; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SPG20|23111|nucleotide
ATGGAGCAAGAGCCACAAAATGGAGAACCTGCTGAAATTAAGATCATCAGAGAAGCATATAAGAAGGCCTTTTTATTTGTTAACAAAGGTCTGAATACAGATGAA
TTAGGTCAGAAGGAAGAAGCAAAGAACTACTATAAGCAAGGAATAGGACACCTGCTCAGAGGGATCAGCATTTCATCAAAAGAGTCTGAACACACAGGTCCTGGG
TGGGAATCTGCTAGACAGATGCAACAGAAAATGAAAGAAACTCTACAGAATGTACGCACCAGGCTGGAAATTCTAGAGAAGGGTCTTGCCACTTCTCTGCAGAAT
GATCTTCAGGAGGTGCCCAAGTTATATCCAGAATTTCCACCTAAAGACATGTGTGAAAAATTACCAGAGCCTCAGTCTTTTAGTTCAGCTCCTCAGCATGCTGAA
GTAAATGGAAACACCTCAACTCCAAGTGCAGGGGCAGTTGCTGCACCTGCTTCTCTGTCTTTACCATCACAAAGTTGTCCAGCAGAAGCTCCTCCTGCTTATACT
CCTCAAGCTGCTGAAGGTCACTACACTGTATCCTATGGAACAGATTCTGGGGAGTTTTCATCAGTTGGAGAGGAGTTTTATAGGAATCATTCTCAGCCACCGCCT
CTTGAGACCTTAGGGCTGGATGCAGATGAATTGATTTTGATACCAAATGGAGTACAGATTTTTTTTGTAAATCCTGCAGGGGAGGTTAGTGCACCTTCGTATCCT
GGGTACCTTCGAATTGTGAGGTTTTTGGATAATTCTCTCGATACGGTTCTAAACCGTCCTCCCGGGTTTCTTCAGGTTTGTGACTGGTTATATCCTCTAGTTCCT
GATAGATCTCCGGTTCTGAAATGTACTGCGGGAGCCTACATGTTTCCTGATACAATGCTACAAGCAGCAGGATGCTTTGTGGGGGTCGTCCTGTCCTCTGAGTTA
CCAGAGGATGATAGAGAGCTCTTTGAGGATCTGTTAAGGCAAATGTCTGACCTTCGGCTCCAGGCCAACTGGAACAGAGCAGAAGAAGAAAATGAATTCCAAATC
CCTGGAAGAACTAGACCCTCCTCTGACCAACTAAAAGAAGCCTCTGGCACTGATGTGAAACAGTTGGACCAAGGCAATAAGGATGTACGTCATAAAGGAAAACGT
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>SPG20|23111|protein
MEQEPQNGEPAEIKIIREAYKKAFLFVNKGLNTDELGQKEEAKNYYKQGIGHLLRGISISSKESEHTGPGWESARQMQQKMKETLQNVRTRLEILEKGLATSLQN
DLQEVPKLYPEFPPKDMCEKLPEPQSFSSAPQHAEVNGNTSTPSAGAVAAPASLSLPSQSCPAEAPPAYTPQAAEGHYTVSYGTDSGEFSSVGEEFYRNHSQPPP
LETLGLDADELILIPNGVQIFFVNPAGEVSAPSYPGYLRIVRFLDNSLDTVLNRPPGFLQVCDWLYPLVPDRSPVLKCTAGAYMFPDTMLQAAGCFVGVVLSSEL
PEDDRELFEDLLRQMSDLRLQANWNRAEEENEFQIPGRTRPSSDQLKEASGTDVKQLDQGNKDVRHKGKRGKRAKDTSSEEVNLSHIVPCEPVPEEKPKELPEWS
EKVAHNILSGASWVSWGLVKGAEITGKAIQKGASKLRERIQPEEKPVEVSPAVTKGLYIAKQATGGAAKVSQFLVDGVCTVANCVGKELAPHVKKHGSKLVPESL
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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 (1) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 10 (2)
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
Smith, 2002 - FISHautism - - - - 1 - 1
Linkage Studies Top