AutismKB 2.0

Evidence Details for TPD52L1


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Basic Information Top
Gene Symbol:TPD52L1 ( D53,MGC8556,TPD52L2,hD53 )
Gene Full Name: tumor protein D52-like 1
Band: 6q22-q23
Quick LinksEntrez ID:7164; OMIM: 604069; Uniprot ID:TPD53_HUMAN; ENSEMBL ID: ENSG00000111907; HGNC ID: 12006
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TPD52L1|7164|nucleotide
ATGCTCTCTGAGGAGGAAAAGGAAGAGTTAAAAGCAGAGTTAGTTCAGCTAGAAGACGAAATTACAACACTACGACAAGTTTTGTCAGCGAAAGAAAGGCATCTA
GTTGAGATAAAACAAAAACTCGGCATGAACCTGATGAATGAATTAAAACAGAACTTCAGCAAAAGCTGGCATGACATGCAGACTACCACTGCCTACAAGAAAACA
CATGAAACCCTGAGTCACGCAGGGCAAAAGGCAACTGCAGCTTTCAGCAACGTTGGAACGGCCATCAGCAAGAAGTTCGGAGACATGAGTTACTCCATTCGCCAT
TCCATAAGTATGCCTGCTATGAGGAATTCTCCTACTTTCAAATCATTTGAGGAGAGGGTTGAGACAACTGTCACAAGCCTCAAGACGAAAGTAGGCGGTACGAAC
CCTAATGGAGGCAGTTTTGAGGAGGTCCTCAGCTCCACGGCCCATGCCAGTGCCCAGAGCTTGGCAGGAGGCTCCCGGCGGACCAAGGAGGAGGAGCTGCAGTGC
TAA





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>TPD52L1|7164|protein
MLSEEEKEELKAELVQLEDEITTLRQVLSAKERHLVEIKQKLGMNLMNELKQNFSKSWHDMQTTTAYKKTHETLSHAGQKATAAFSNVGTAISKKFGDMSYSIRH
SISMPAMRNSPTFKSFEERVETTVTSLKTKVGGTNPNGGSFEEVLSSTAHASAQSLAGGSRRTKEEELQC



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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (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
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Linkage Studies Top