AutismKB 2.0

Evidence Details for TSNAXIP1


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Basic Information Top
Gene Symbol:TSNAXIP1 ( MGC111443,TXI1 )
Gene Full Name: translin-associated factor X interacting protein 1
Band: 16q22.1
Quick LinksEntrez ID:55815; OMIM: 607720; Uniprot ID:TXIP1_HUMAN; ENSEMBL ID: ENSG00000102904; HGNC ID: 18586
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TSNAXIP1|55815|nucleotide
ATGGGTGGGCACCTGTCCCCATGGCCCACATACACCAGTGGCCAGACCATTTTGCAAAATCGAAAACCCTGTTCAGATGACTACCGGAAGCGAGTAGGGAGCTGC
CAGCAGCACCCCTTTCGCACTGCCAAGCCCCAGTACTTGGAGGAACTGGAAAACTACCTACGCAAGGAGCTCCTCCTGCTGGACCTGGGCACAGATTCCACCCAG
GAACTAAGGCTGCAGCCTTACAGAGAGATCTTTGAGTTCTTCATAGAGGACTTCAAAACGTACAAGCCATTACTATCCTCCATCAAGAATGCGTATGAGGGGATG
CTGGCCCACCAAAGGGAGAAGATTCGGGCTCTGGAGCCCCTGAAGGCCAAGCTTGTCACTGTGAATGAGGACTGCAATGAGAGGATCCTGGCCATGAGAGCTGAG
GAGAAATATGAAATCTCCCTGCTCAAGAAAGAGAAGATGAACTTGCTAAAACTCATCGACAAAAAGAATGAGGAGAAGATTTCATTGCAGAGCGAGGTGACCAAA
CTGAGGAAGAACTTGGCTGAGGAGTACCTGCACTACCTCAGTGAGCGAGATGCCTGTAAGATCCTCATCGCAGACCTGAATGAGCTGCGGTACCAGCGGGAGGAC
ATGTCATTAGCCCAGTCGCCAGGCATCTGGGGGGAGGACCCTGTGAAGTTAACCCTGGCTCTTAAGATGACCCGGCAAGACCTGACCCGCACGCAGATGGAACTC
AACAACATGAAGGCCAACTTTGGAGATGTGGTCCCCAGGAGGGACTTTGAAATGCAGGAGAAGACCAACAAGGATCTTCAGGAGCAGCTGGACACCCTGAGAGCC
AGCTACGAGGAGGTTCGCAAGGAGCATGAGATCCTCATGCAGCTGCACATGAGCACGCTGAAGGAACGGGACCAATTCTTCTCTGAGCTGCAGGAGATCCAGCGC
ACTTCCACGCCGCGGCCTGACTGGACCAAGTGCAAAGATGTGGTGGCTGGGGGCCCAGAGCGCTGGCAGATGCTGGCTGAGGGCAAGAACAGCGACCAGCTGGTG
GACGTGCTCCTGGAAGAGATTGGTTCGGGGCTGCTGCGGGAGAAAGACTTCTTCCCTGGTCTGGGCTATGGGGAAGCCATCCCTGCTTTTCTTCGGTTTGATGGC
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>TSNAXIP1|55815|protein
MGGHLSPWPTYTSGQTILQNRKPCSDDYRKRVGSCQQHPFRTAKPQYLEELENYLRKELLLLDLGTDSTQELRLQPYREIFEFFIEDFKTYKPLLSSIKNAYEGM
LAHQREKIRALEPLKAKLVTVNEDCNERILAMRAEEKYEISLLKKEKMNLLKLIDKKNEEKISLQSEVTKLRKNLAEEYLHYLSERDACKILIADLNELRYQRED
MSLAQSPGIWGEDPVKLTLALKMTRQDLTRTQMELNNMKANFGDVVPRRDFEMQEKTNKDLQEQLDTLRASYEEVRKEHEILMQLHMSTLKERDQFFSELQEIQR
TSTPRPDWTKCKDVVAGGPERWQMLAEGKNSDQLVDVLLEEIGSGLLREKDFFPGLGYGEAIPAFLRFDGLVENKKPSKKDVVNLLKDAWKERLAEEQKETFPDF
FFNFLEHRFGPSDAMAWAYTIFENIKIFHSNEVMSQFYAVLMGKRSENVYVTQKETVAQLLKEMTNADSQNEGLLTMEQFNTVLKSTFPLKTEEQIQELMEAGGW
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 2 (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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top