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 TopClick 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 TopGenome-Wide Association Studies(By Ethnic Group) TopCNV 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 TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Garbett, 2008_1 | Unknown | superior temporal gyrus (STG) | 6 (33.33%) | - | - | - | autism | 6 (33.33%) |
1.21544 | Up | 0.0178644 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.