Evidence Details for GNPDA2
Basic Information Top
| Gene Symbol: | GNPDA2 ( GNP2,SB52 ) |
|---|---|
| Gene Full Name: | glucosamine-6-phosphate deaminase 2 |
| Band: | 4p12 |
| Quick Links | Entrez ID:132789; OMIM: 613222; Uniprot ID:GNPI2_HUMAN; ENSEMBL ID: ENSG00000163281; HGNC ID: 21526 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GNPDA2|132789|nucleotide
ATGAGGCTTGTAATTCTTGATAACTATGACTTGGCTAGTGAATGGGCAGCCAAATACATCTGTAATCGCATCATTCAGTTCAAACCTGGACAGGACAGATATTTT
ACACTGGGTTTACCAACAGGGAGTACACCTTTAGGATGCTATAAAAAACTAATAGAATATCATAAGAATGGACACCTTTCTTTTAAATATGTGAAGACCTTTAAT
ATGGATGAATATGTAGGACTTCCAAGAAATCATCCTGAAAGCTACCATTCTTATATGTGGAATAATTTTTTTAAGCATATCGATATAGATCCTAATAATGCACAT
ATCCTTGACGGGAATGCTGCAGATTTACAAGCAGAATGTGATGCTTTTGAAAACAAAATAAAAGAAGCTGGAGGAATAGATCTTTTTGTTGGAGGAATTGGTCCA
GATGGTCATATCGCTTTCAATGAGCCTGGATCCAGTTTAGTGTCAAGGACAAGATTAAAGACTCTAGCAATGGATACCATCTTGGCAAATGCCAAATATTTTGAT
GGAGATTTATCAAAAGTGCCAACTATGGCTCTAACTGTTGGTGTGGGGACAGTGATGGATGCTAGAGAAGTAATGATCCTTATAACAGGGGCACACAAGGCATTT
GCCCTGTACAAAGCAATAGAAGAAGGAGTCAATCACATGTGGACTGTTTCCGCTTTCCAGCAGCATCCCCGGACTATTTTTGTATGCGATGAAGATGCTACTTTA
GAATTAAGAGTTAAAACTGTGAAATACTTTAAAGGTCTAATGCATGTGCACAATAAACTTGTGGATCCACTATTCAGTATGAAAGATGGAAACTGA
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ATGAGGCTTGTAATTCTTGATAACTATGACTTGGCTAGTGAATGGGCAGCCAAATACATCTGTAATCGCATCATTCAGTTCAAACCTGGACAGGACAGATATTTT
ACACTGGGTTTACCAACAGGGAGTACACCTTTAGGATGCTATAAAAAACTAATAGAATATCATAAGAATGGACACCTTTCTTTTAAATATGTGAAGACCTTTAAT
ATGGATGAATATGTAGGACTTCCAAGAAATCATCCTGAAAGCTACCATTCTTATATGTGGAATAATTTTTTTAAGCATATCGATATAGATCCTAATAATGCACAT
ATCCTTGACGGGAATGCTGCAGATTTACAAGCAGAATGTGATGCTTTTGAAAACAAAATAAAAGAAGCTGGAGGAATAGATCTTTTTGTTGGAGGAATTGGTCCA
GATGGTCATATCGCTTTCAATGAGCCTGGATCCAGTTTAGTGTCAAGGACAAGATTAAAGACTCTAGCAATGGATACCATCTTGGCAAATGCCAAATATTTTGAT
GGAGATTTATCAAAAGTGCCAACTATGGCTCTAACTGTTGGTGTGGGGACAGTGATGGATGCTAGAGAAGTAATGATCCTTATAACAGGGGCACACAAGGCATTT
GCCCTGTACAAAGCAATAGAAGAAGGAGTCAATCACATGTGGACTGTTTCCGCTTTCCAGCAGCATCCCCGGACTATTTTTGTATGCGATGAAGATGCTACTTTA
GAATTAAGAGTTAAAACTGTGAAATACTTTAAAGGTCTAATGCATGTGCACAATAAACTTGTGGATCCACTATTCAGTATGAAAGATGGAAACTGA
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>GNPDA2|132789|protein
MRLVILDNYDLASEWAAKYICNRIIQFKPGQDRYFTLGLPTGSTPLGCYKKLIEYHKNGHLSFKYVKTFNMDEYVGLPRNHPESYHSYMWNNFFKHIDIDPNNAH
ILDGNAADLQAECDAFENKIKEAGGIDLFVGGIGPDGHIAFNEPGSSLVSRTRLKTLAMDTILANAKYFDGDLSKVPTMALTVGVGTVMDAREVMILITGAHKAF
ALYKAIEEGVNHMWTVSAFQQHPRTIFVCDEDATLELRVKTVKYFKGLMHVHNKLVDPLFSMKDGN
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MRLVILDNYDLASEWAAKYICNRIIQFKPGQDRYFTLGLPTGSTPLGCYKKLIEYHKNGHLSFKYVKTFNMDEYVGLPRNHPESYHSYMWNNFFKHIDIDPNNAH
ILDGNAADLQAECDAFENKIKEAGGIDLFVGGIGPDGHIAFNEPGSSLVSRTRLKTLAMDTILANAKYFDGDLSKVPTMALTVGVGTVMDAREVMILITGAHKAF
ALYKAIEEGVNHMWTVSAFQQHPRTIFVCDEDATLELRVKTVKYFKGLMHVHNKLVDPLFSMKDGN
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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) | 1 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 3 (4) |
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 | ||||||
| Sabaratnam, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
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 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gregg, 2008_2 | mixed | lymphoblastoid cell lines | 17 (11.76%) |  | | autism with early onset | autism | 12 (25.00%) |
1.563 | Up | 0.0475 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS 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.