AutismKB 2.0

Evidence Details for TSR1


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Basic Information Top
Gene Symbol:TSR1 ( FLJ10534,KIAA1401,MGC131829 )
Gene Full Name: TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)
Band: 17p13.3
Quick LinksEntrez ID:55720; OMIM: 611214; Uniprot ID:TSR1_HUMAN; ENSEMBL ID: ENSG00000167721; HGNC ID: 25542
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TSR1|55720|nucleotide
ATGGCGGCCCACCGCCCCGGCCCGCTCAAGCAGCAGAATAAAGCTCATAAAGGCGGACGGCATCGGGGTCGGGGATCTGCACAGCGGGACGGCAAGGGCCGTCTG
GCACTGAAAACCCTAAGCAAGAAGGTGAGAAAAGAACTCAGCAGAGTCGACCAGAGGCATCGCGCCAGCCAGCTCCGAAAGCAGAAGAAGGAGGCGGTTCTGGCA
GAGAAGAGACAGCTGGGTGGCAAGGATGGCCCTCCTCATCAGGTACTGGTGGTGCCCCTGCACAGCAGAATTTCCCTGCCAGAGGCCATGCAGCTGCTTCAAGAT
AGGGACACTGGAACAGTACACTTGAATGAATTGGGAAACACCCAGAACTTTATGCTGCTGTGCCCCCGCTTGAAACATCGGTGGTTTTTCACCTCAGCAAGGCCA
GGGGATCTGCACGTTGTGTTAGACATGGCTAAAGTAGCTGATACCATCCTGTTCCTCCTTGATCCACTAGAAGGCTGGGACAGCACCGGTGATTACTGTCTTTCC
TGCCTCTTTGCTCAGGGCCTTCCGACCTATACACTAGCTGTCCAGGGGATTTCTGGCCTCCCACTGAAGAAACAAATAGATACCAGGAAGAAGCTAAGTAAAGCA
GTGGAGAAGCGCTTTCCGCATGACAAACTCCTCTTGTTAGACACTCAACAGGAGGCAGGGATGCTGCTTAGGCAGTTGGCTAACCAGAAGCAACAGCATCTTGCT
TTTCGAGATCGGCGGGCCTACCTATTTGCCCATGCTGTTGATTTTGTTCCTAGTGAAGAGAATAACTTGGTGGGCACCTTGAAAATTTCAGGCTATGTTCGAGGG
CAGACTCTGAATGTCAATAGGTTGCTGCATATCGTTGGATATGGTGATTTCCAGATGAAACAGATAGATGCCCCCGGAGACCCTTTCCCTTTAAATCCTAGAGGA
ATTAAACCCCAAAAGGACCCAGACATGGCAATGGAGATTTGTGCTACGGATGCTGTAGATGATATGGAAGAAGGTCTTAAAGTCCTAATGAAGGCAGACCCTGGT
AGACAGGAATCCTTGCAAGCAGAGGTTATCCCAGATCCAATGGAGGGAGAGCAAACCTGGCCCACTGAGGAGGAGCTGAGCGAGGCAAAGGATTTCTTGAAGGAA
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>TSR1|55720|protein
MAAHRPGPLKQQNKAHKGGRHRGRGSAQRDGKGRLALKTLSKKVRKELSRVDQRHRASQLRKQKKEAVLAEKRQLGGKDGPPHQVLVVPLHSRISLPEAMQLLQD
RDTGTVHLNELGNTQNFMLLCPRLKHRWFFTSARPGDLHVVLDMAKVADTILFLLDPLEGWDSTGDYCLSCLFAQGLPTYTLAVQGISGLPLKKQIDTRKKLSKA
VEKRFPHDKLLLLDTQQEAGMLLRQLANQKQQHLAFRDRRAYLFAHAVDFVPSEENNLVGTLKISGYVRGQTLNVNRLLHIVGYGDFQMKQIDAPGDPFPLNPRG
IKPQKDPDMAMEICATDAVDDMEEGLKVLMKADPGRQESLQAEVIPDPMEGEQTWPTEEELSEAKDFLKESSKVVKKVPKGTSSYQAEWILDGGSQSGGEGDEYE
YDDMEHEDFMEEESQDESSEEEEEYETMTIGESVHDDLYDKKVDEEAEAKMLEKYKQERLEEMFPDEVDTPRDVAARIRFQKYRGLKSFRTSPWDPKENLPQDYA
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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2) 0 (0) 0 (0) 4 (3)
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
Linkage Studies Top