Evidence Details for TPD52L1
Basic Information Top
| Gene Symbol: | TPD52L1 ( D53,MGC8556,TPD52L2,hD53 ) |
|---|---|
| Gene Full Name: | tumor protein D52-like 1 |
| Band: | 6q22-q23 |
| Quick Links | Entrez 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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ATGCTCTCTGAGGAGGAAAAGGAAGAGTTAAAAGCAGAGTTAGTTCAGCTAGAAGACGAAATTACAACACTACGACAAGTTTTGTCAGCGAAAGAAAGGCATCTA
GTTGAGATAAAACAAAAACTCGGCATGAACCTGATGAATGAATTAAAACAGAACTTCAGCAAAAGCTGGCATGACATGCAGACTACCACTGCCTACAAGAAAACA
CATGAAACCCTGAGTCACGCAGGGCAAAAGGCAACTGCAGCTTTCAGCAACGTTGGAACGGCCATCAGCAAGAAGTTCGGAGACATGAGTTACTCCATTCGCCAT
TCCATAAGTATGCCTGCTATGAGGAATTCTCCTACTTTCAAATCATTTGAGGAGAGGGTTGAGACAACTGTCACAAGCCTCAAGACGAAAGTAGGCGGTACGAAC
CCTAATGGAGGCAGTTTTGAGGAGGTCCTCAGCTCCACGGCCCATGCCAGTGCCCAGAGCTTGGCAGGAGGCTCCCGGCGGACCAAGGAGGAGGAGCTGCAGTGC
TAA
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>TPD52L1|7164|protein
MLSEEEKEELKAELVQLEDEITTLRQVLSAKERHLVEIKQKLGMNLMNELKQNFSKSWHDMQTTTAYKKTHETLSHAGQKATAAFSNVGTAISKKFGDMSYSIRH
SISMPAMRNSPTFKSFEERVETTVTSLKTKVGGTNPNGGSFEEVLSSTAHASAQSLAGGSRRTKEEELQC
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MLSEEEKEELKAELVQLEDEITTLRQVLSAKERHLVEIKQKLGMNLMNELKQNFSKSWHDMQTTTAYKKTHETLSHAGQKATAAFSNVGTAISKKFGDMSYSIRH
SISMPAMRNSPTFKSFEERVETTVTSLKTKVGGTNPNGGSFEEVLSSTAHASAQSLAGGSRRTKEEELQC
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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

