AutismKB 2.0

Evidence Details for TRIM32


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Basic Information Top
Gene Symbol:TRIM32 ( BBS11,HT2A,LGMD2H,TATIP )
Gene Full Name: tripartite motif-containing 32
Band: 9q33.1
Quick LinksEntrez ID:22954; OMIM: 602290; Uniprot ID:TRI32_HUMAN; ENSEMBL ID: ENSG00000119401; HGNC ID: 16380
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TRIM32|22954|nucleotide
ATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGCCCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAG
CTTCTGCACTGTGGCCATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGCTGTCCCTTTTGCAGCAAGATTACCCGCATA
ACCAGCTTGACCCAGCTGACAGACAATCTGACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGTCGGTCCTGTGGGCGG
CGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGTGAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAA
GCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGGGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAG
GACCTTCAGGCAAGGTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCTCGCTCTCGGAAGTTCTTCACAGGCTCTTTG
GCTGAAGTTGAGAAGTCCAATAGTCAAGTGGTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGACTACTTCCTGGCCAAG
ATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAGGAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTC
CTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACAGTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCT
GCCTCTACCTCTGTTACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCTGCTAAACAGCGGGGTCCTGAGGCAGCCTCC
AATATCCAGCAGTGCCTCTTTCTCAAGAAGATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACCAGTCAAGGTGAAGTA
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>TRIM32|22954|protein
MAAAAASHLNLDALREVLECPICMESFTEEQLRPKLLHCGHTICRQCLEKLLASSINGVRCPFCSKITRITSLTQLTDNLTVLKIIDTAGLSEAVGLLMCRSCGR
RLPRQFCRSCGLVLCEPCREADHQPPGHCTLPVKEAAEERRRDFGEKLTRLRELMGELQRRKAALEGVSKDLQARYKAVLQEYGHEERRVQDELARSRKFFTGSL
AEVEKSNSQVVEEQSYLLNIAEVQAVSRCDYFLAKIKQADVALLEETADEEEPELTASLPRELTLQDVELLKVGHVGPLQIGQAVKKPRTVNVEDSWAMEATASA
ASTSVTFREMDMSPEEVVASPRASPAKQRGPEAASNIQQCLFLKKMGAKGSTPGMFNLPVSLYVTSQGEVLVADRGNYRIQVFTRKGFLKEIRRSPSGIDSFVLS
FLGADLPNLTPLSVAMNCQGLIGVTDSYDNSLKVYTLDGHCVACHRSQLSKPWGITALPSGQFVVTDVEGGKLWCFTVDRGSGVVKYSCLCSAVRPKFVTCDAEG
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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 (0) 0 (0) 1 (1) 12 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Lionel AC, 2014 Canada; Denmark; Italy; the UK;the USA microarray--ASD - - - - 89985 44085 134070
Linkage Studies Top