AutismKB 2.0

Evidence Details for TSC1


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Basic Information Top
Gene Symbol:TSC1 ( KIAA0243,LAM,MGC86987,TSC )
Gene Full Name: tuberous sclerosis 1
Band: 9q34
Quick LinksEntrez ID:7248; OMIM: 605284; Uniprot ID:TSC1_HUMAN; ENSEMBL ID: ENSG00000165699; HGNC ID: 12362
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TSC1|7248|nucleotide
ATGGCCCAACAAGCAAATGTCGGGGAGCTTCTTGCCATGCTGGACTCCCCCATGCTGGGTGTGCGGGACGACGTGACAGCTGTCTTTAAAGAGAACCTCAATTCT
GACCGTGGCCCTATGCTTGTAAACACCTTGGTGGATTATTACCTGGAAACCAGCTCTCAGCCGGCATTGCACATCCTGACCACCTTGCAAGAGCCACATGACAAG
CACCTCTTGGACAGGATTAACGAATATGTGGGCAAAGCCGCCACTCGTTTATCCATCCTCTCGTTACTGGGTCATGTCATAAGACTGCAGCCATCTTGGAAGCAT
AAGCTCTCTCAAGCACCTCTTTTGCCTTCTTTACTAAAATGTCTCAAGATGGACACTGACGTCGTTGTCCTCACAACAGGCGTCTTGGTGTTGATAACCATGCTA
CCAATGATTCCACAGTCTGGGAAACAGCATCTTCTTGATTTCTTTGACATTTTTGGCCGTCTGTCATCATGGTGCCTGAAGAAACCAGGCCACGTGGCGGAAGTC
TATCTCGTCCATCTCCATGCCAGTGTGTACGCACTCTTTCATCGCCTTTATGGAATGTACCCTTGCAACTTCGTCTCCTTTTTGCGTTCTCATTACAGTATGAAA
GAAAACCTGGAGACTTTTGAAGAAGTGGTCAAGCCAATGATGGAGCATGTGCGAATTCATCCGGAATTAGTGACTGGATCCAAGGACCATGAACTGGACCCTCGA
AGGTGGAAGAGATTAGAAACTCATGATGTTGTGATCGAGTGTGCCAAAATCTCTCTGGATCCCACAGAAGCCTCATATGAAGATGGCTATTCTGTGTCTCACCAA
ATCTCAGCCCGCTTTCCTCATCGTTCAGCCGATGTCACCACCAGCCCTTATGCTGACACACAGAATAGCTATGGGTGTGCTACTTCTACCCCTTACTCCACGTCT
CGGCTGATGTTGTTAAATATGCCAGGGCAGCTACCTCAGACTCTGAGTTCCCCATCGACACGGCTGATAACTGAACCACCACAAGCTACTCTTTGGAGCCCATCT
ATGGTTTGTGGTATGACCACTCCTCCAACTTCTCCTGGAAATGTCCCACCTGATCTGTCACACCCTTACAGTAAAGTCTTTGGTACAACTGCAGGTGGAAAAGGA
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>TSC1|7248|protein
MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHILTTLQEPHDKHLLDRINEYVGKAATRLSILSLLGHVIRLQPSWKH
KLSQAPLLPSLLKCLKMDTDVVVLTTGVLVLITMLPMIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHLHASVYALFHRLYGMYPCNFVSFLRSHYSMK
ENLETFEEVVKPMMEHVRIHPELVTGSKDHELDPRRWKRLETHDVVIECAKISLDPTEASYEDGYSVSHQISARFPHRSADVTTSPYADTQNSYGCATSTPYSTS
RLMLLNMPGQLPQTLSSPSTRLITEPPQATLWSPSMVCGMTTPPTSPGNVPPDLSHPYSKVFGTTAGGKGTPLGTPATSPPPAPLCHSDDYVHISLPQATVTPPR
KEERMDSARPCLHRQHHLLNDRGSEEPPGSKGSVTLSDLPGFLGDLASEEDSIEKDKEEAAISRELSEITTAEAEPVVPRGGFDSPFYRDSLPGSQRKTHSAASS
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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) Yes 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 1 (2) 1 (1) 18 (4)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAD
OMIMTuberous sclerosis-1 (191100)
DescriptionTuberous sclerosis is caused by mutations in the TSC1 or TSC2 genes. The frequency of tuberous sclerosis among patients with ASD in epidemiological samples is ~1%; the frequency of ASD in subjects with tuberous sclerosis varies between 16-60%
Reference(s)9394941; 8132114; 14985384; 17936687; 16901420;
LevelLevel 4: The disorder is a generally acknowledged ASD related disorder.
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top