Evidence Details for UPP2
Basic Information Top
| Gene Symbol: | UPP2 ( UDRPASE2,UP2,UPASE2 ) |
|---|---|
| Gene Full Name: | uridine phosphorylase 2 |
| Band: | 2q24.1 |
| Quick Links | Entrez ID:151531; OMIM: NA; Uniprot ID:UPP2_HUMAN; ENSEMBL ID: ENSG00000007001; HGNC ID: 23061 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>UPP2|151531|nucleotide
ATGCTGGCCCCAGGCTGTGAGTTGGACCCAGACCAAGAAGTGGTGAGGACAAGGCCTGAAGATGTGCCTGCTTCCCCTTCAACTTCCACCATGATTGTAAGTGTC
CTGAGGCCTCCCAGCCATGCTTCCTGTACAGCCTGTGGAACTGTGACTTTTCACATAGTAGAGAGAATGGCTTCAGTTATACCTGCCTCCAATAGGTCCATGAGA
TCTGACAGGAATACATATGTTGGAAAAAGGTTTGTTCACGTTAAAAATCCTTACTTGGATTTGATGGATGAAGACATTCTCTATCACTTGGATTTGGGAACAAAA
ACACACAACCTACCAGCAATGTTTGGAGATGTAAAGTTTGTCTGTGTCGGTGGGAGCCCCAACAGAATGAAAGCATTTGCACTGTTTATGCACAAGGAGCTCGGG
TTTGAGGAAGCTGAAGAAGACATAAAAGACATCTGTGCTGGGACAGACAGATACTGTATGTACAAAACCGGGCCTGTGCTCGCCATCAGTCACGGCATGGGCATC
CCCTCCATTTCTATTATGCTTCATGAACTCATCAAATTACTCCACCATGCACGGTGCTGCGATGTCACCATTATTAGAATCGGTACATCAGGGGGAATAGGGATT
GCACCAGGGACTGTTGTAATAACGGATATAGCTGTAGACTCCTTCTTTAAGCCCCGGTTTGAACAGGTCATTTTGGACAACATTGTCACCCGAAGTACTGAACTG
GACAAAGAACTGTCTGAAGAACTGTTCAACTGTAGCAAAGAAATCCCCAACTTCCCAACCCTCGTTGGACATACAATGTGTACCTATGATTTTTATGAAGGCCAA
GGCCGACTAGATGGAGCACTGTGCTCCTTTTCCAGAGAAAAAAAGTTAGACTACTTGAAGAGAGCATTTAAAGCTGGTGTCAGGAATATTGAAATGGAATCTACA
GTGTTTGCAGCTATGTGTGGACTCTGTGGTCTAAAAGCTGCTGTGGTCTGTGTGACACTTCTCGACAGACTCGACTGTGATCAGATCAACTTGCCTCATGATGTC
CTGGTGGAGTACCAGCAACGGCCTCAGCTCCTAATCTCCAACTTCATCAGACGGCGGCTTGGACTTTGTGACTAG
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ATGCTGGCCCCAGGCTGTGAGTTGGACCCAGACCAAGAAGTGGTGAGGACAAGGCCTGAAGATGTGCCTGCTTCCCCTTCAACTTCCACCATGATTGTAAGTGTC
CTGAGGCCTCCCAGCCATGCTTCCTGTACAGCCTGTGGAACTGTGACTTTTCACATAGTAGAGAGAATGGCTTCAGTTATACCTGCCTCCAATAGGTCCATGAGA
TCTGACAGGAATACATATGTTGGAAAAAGGTTTGTTCACGTTAAAAATCCTTACTTGGATTTGATGGATGAAGACATTCTCTATCACTTGGATTTGGGAACAAAA
ACACACAACCTACCAGCAATGTTTGGAGATGTAAAGTTTGTCTGTGTCGGTGGGAGCCCCAACAGAATGAAAGCATTTGCACTGTTTATGCACAAGGAGCTCGGG
TTTGAGGAAGCTGAAGAAGACATAAAAGACATCTGTGCTGGGACAGACAGATACTGTATGTACAAAACCGGGCCTGTGCTCGCCATCAGTCACGGCATGGGCATC
CCCTCCATTTCTATTATGCTTCATGAACTCATCAAATTACTCCACCATGCACGGTGCTGCGATGTCACCATTATTAGAATCGGTACATCAGGGGGAATAGGGATT
GCACCAGGGACTGTTGTAATAACGGATATAGCTGTAGACTCCTTCTTTAAGCCCCGGTTTGAACAGGTCATTTTGGACAACATTGTCACCCGAAGTACTGAACTG
GACAAAGAACTGTCTGAAGAACTGTTCAACTGTAGCAAAGAAATCCCCAACTTCCCAACCCTCGTTGGACATACAATGTGTACCTATGATTTTTATGAAGGCCAA
GGCCGACTAGATGGAGCACTGTGCTCCTTTTCCAGAGAAAAAAAGTTAGACTACTTGAAGAGAGCATTTAAAGCTGGTGTCAGGAATATTGAAATGGAATCTACA
GTGTTTGCAGCTATGTGTGGACTCTGTGGTCTAAAAGCTGCTGTGGTCTGTGTGACACTTCTCGACAGACTCGACTGTGATCAGATCAACTTGCCTCATGATGTC
CTGGTGGAGTACCAGCAACGGCCTCAGCTCCTAATCTCCAACTTCATCAGACGGCGGCTTGGACTTTGTGACTAG
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>UPP2|151531|protein
MLAPGCELDPDQEVVRTRPEDVPASPSTSTMIVSVLRPPSHASCTACGTVTFHIVERMASVIPASNRSMRSDRNTYVGKRFVHVKNPYLDLMDEDILYHLDLGTK
THNLPAMFGDVKFVCVGGSPNRMKAFALFMHKELGFEEAEEDIKDICAGTDRYCMYKTGPVLAISHGMGIPSISIMLHELIKLLHHARCCDVTIIRIGTSGGIGI
APGTVVITDIAVDSFFKPRFEQVILDNIVTRSTELDKELSEELFNCSKEIPNFPTLVGHTMCTYDFYEGQGRLDGALCSFSREKKLDYLKRAFKAGVRNIEMEST
VFAAMCGLCGLKAAVVCVTLLDRLDCDQINLPHDVLVEYQQRPQLLISNFIRRRLGLCD
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MLAPGCELDPDQEVVRTRPEDVPASPSTSTMIVSVLRPPSHASCTACGTVTFHIVERMASVIPASNRSMRSDRNTYVGKRFVHVKNPYLDLMDEDILYHLDLGTK
THNLPAMFGDVKFVCVGGSPNRMKAFALFMHKELGFEEAEEDIKDICAGTDRYCMYKTGPVLAISHGMGIPSISIMLHELIKLLHHARCCDVTIIRIGTSGGIGI
APGTVVITDIAVDSFFKPRFEQVILDNIVTRSTELDKELSEELFNCSKEIPNFPTLVGHTMCTYDFYEGQGRLDGALCSFSREKKLDYLKRAFKAGVRNIEMEST
VFAAMCGLCGLKAAVVCVTLLDRLDCDQINLPHDVLVEYQQRPQLLISNFIRRRLGLCD
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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 | 1 (3) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 3
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Maestrini, 2009_1 | Discovery | GoldenGate assay (Illumina, San Diego, CA, USA) | 126 | 126 (-) |  | | ASD | - - |
- - | ||
| Maestrini, 2009_3 | Replication | the Mass Extend iPLEX Gold (Sequenom, San Diego, CA, USA) and TaqMan platforms | 390 | 390 (-) | | | ASD | - - |
- - | ||
| Lu, 2010_1 | Re-analysis | Illumina HumanHap 550K BeadChip | 990 | - (-) | |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Gregory, 2009 | USA | aCGH | | | ASD | - | - | - | - | 119 | 54 | 173 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS 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.