Evidence Details for UPB1
Basic Information Top
| Gene Symbol: | UPB1 ( BUP1 ) |
|---|---|
| Gene Full Name: | ureidopropionase, beta |
| Band: | 22q11.23 |
| Quick Links | Entrez ID:51733; OMIM: 606673; Uniprot ID:BUP1_HUMAN; ENSEMBL ID: ENSG00000100024; HGNC ID: 16297 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>UPB1|51733|nucleotide
ATGGCGGGCGCTGAGTGGAAGTCGCTGGAGGAATGCTTGGAGAAGCACCTGCCGCTCCCCGACTTGCAGGAAGTGAAGCGCGTTCTCTATGGCAAGGAACTCAGG
AAGCTTGATCTGCCCAGGGAAGCTTTCGAAGCTGCCTCCAGAGAAGACTTTGAACTGCAGGGATATGCCTTTGAAGCAGCGGAGGAGCAGCTGAGACGACCCCGC
ATTGTGCACGTGGGGCTGGTTCAGAACAGAATCCCCCTCCCCGCAAATGCCCCTGTGGCAGAACAGGTCTCTGCCCTTCATAGACGCATAAAGGCTATCGTAGAG
GTGGCTGCAATGTGTGGAGTCAACATCATCTGTTTCCAGGAAGCATGGACTATGCCCTTTGCCTTCTGTACGAGAGAGAAGCTTCCTTGGACAGAATTTGCTGAG
TCAGCAGAGGATGGGCCCACCACCAGATTCTGTCAGAAGCTGGCGAAGAACCATGACATGGTGGTGGTGTCTCCCATCCTGGAACGAGACAGCGAGCATGGGGAT
GTTTTGTGGAATACAGCCGTGGTGATCTCCAATTCCGGAGCAGTCCTGGGAAAGACCAGGAAAAACCACATCCCCAGAGTGGGTGATTTCAACGAGTCAACTTAC
TACATGGAGGGAAACCTGGGCCACCCCGTGTTCCAGACGCAGTTCGGAAGGATCGCGGTGAACATTTGCTACGGGCGGCACCACCCCCTCAACTGGCTTATGTAC
AGCATCAACGGGGCTGAGATCATCTTCAACCCCTCGGCCACGATAGGAGCACTCAGCGAGTCCCTGTGGCCCATCGAGGCCAGAAACGCAGCCATTGCCAATCAC
TGCTTCACCTGCGCCATCAATCGAGTGGGCACCGAGCACTTCCCGAACGAGTTTACCTCGGGAGATGGAAAGAAAGCTCACCAGGACTTTGGCTACTTTTATGGC
TCGAGCTATGTGGCAGCCCCTGACAGCAGCCGGACTCCTGGGCTGTCCCGTAGCCGGGATGGACTGCTAGTTGCTAAGCTCGACCTAAACCTCTGCCAGCAGGTG
AATGATGTCTGGAACTTCAAGATGACGGGCAGGTATGAGATGTACGCACGGGAGCTCGCCGAAGCTGTCAAGTCCAACTACAGCCCCACCATCGTGAAAGAGTAG
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ATGGCGGGCGCTGAGTGGAAGTCGCTGGAGGAATGCTTGGAGAAGCACCTGCCGCTCCCCGACTTGCAGGAAGTGAAGCGCGTTCTCTATGGCAAGGAACTCAGG
AAGCTTGATCTGCCCAGGGAAGCTTTCGAAGCTGCCTCCAGAGAAGACTTTGAACTGCAGGGATATGCCTTTGAAGCAGCGGAGGAGCAGCTGAGACGACCCCGC
ATTGTGCACGTGGGGCTGGTTCAGAACAGAATCCCCCTCCCCGCAAATGCCCCTGTGGCAGAACAGGTCTCTGCCCTTCATAGACGCATAAAGGCTATCGTAGAG
GTGGCTGCAATGTGTGGAGTCAACATCATCTGTTTCCAGGAAGCATGGACTATGCCCTTTGCCTTCTGTACGAGAGAGAAGCTTCCTTGGACAGAATTTGCTGAG
TCAGCAGAGGATGGGCCCACCACCAGATTCTGTCAGAAGCTGGCGAAGAACCATGACATGGTGGTGGTGTCTCCCATCCTGGAACGAGACAGCGAGCATGGGGAT
GTTTTGTGGAATACAGCCGTGGTGATCTCCAATTCCGGAGCAGTCCTGGGAAAGACCAGGAAAAACCACATCCCCAGAGTGGGTGATTTCAACGAGTCAACTTAC
TACATGGAGGGAAACCTGGGCCACCCCGTGTTCCAGACGCAGTTCGGAAGGATCGCGGTGAACATTTGCTACGGGCGGCACCACCCCCTCAACTGGCTTATGTAC
AGCATCAACGGGGCTGAGATCATCTTCAACCCCTCGGCCACGATAGGAGCACTCAGCGAGTCCCTGTGGCCCATCGAGGCCAGAAACGCAGCCATTGCCAATCAC
TGCTTCACCTGCGCCATCAATCGAGTGGGCACCGAGCACTTCCCGAACGAGTTTACCTCGGGAGATGGAAAGAAAGCTCACCAGGACTTTGGCTACTTTTATGGC
TCGAGCTATGTGGCAGCCCCTGACAGCAGCCGGACTCCTGGGCTGTCCCGTAGCCGGGATGGACTGCTAGTTGCTAAGCTCGACCTAAACCTCTGCCAGCAGGTG
AATGATGTCTGGAACTTCAAGATGACGGGCAGGTATGAGATGTACGCACGGGAGCTCGCCGAAGCTGTCAAGTCCAACTACAGCCCCACCATCGTGAAAGAGTAG
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>UPB1|51733|protein
MAGAEWKSLEECLEKHLPLPDLQEVKRVLYGKELRKLDLPREAFEAASREDFELQGYAFEAAEEQLRRPRIVHVGLVQNRIPLPANAPVAEQVSALHRRIKAIVE
VAAMCGVNIICFQEAWTMPFAFCTREKLPWTEFAESAEDGPTTRFCQKLAKNHDMVVVSPILERDSEHGDVLWNTAVVISNSGAVLGKTRKNHIPRVGDFNESTY
YMEGNLGHPVFQTQFGRIAVNICYGRHHPLNWLMYSINGAEIIFNPSATIGALSESLWPIEARNAAIANHCFTCAINRVGTEHFPNEFTSGDGKKAHQDFGYFYG
SSYVAAPDSSRTPGLSRSRDGLLVAKLDLNLCQQVNDVWNFKMTGRYEMYARELAEAVKSNYSPTIVKE
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MAGAEWKSLEECLEKHLPLPDLQEVKRVLYGKELRKLDLPREAFEAASREDFELQGYAFEAAEEQLRRPRIVHVGLVQNRIPLPANAPVAEQVSALHRRIKAIVE
VAAMCGVNIICFQEAWTMPFAFCTREKLPWTEFAESAEDGPTTRFCQKLAKNHDMVVVSPILERDSEHGDVLWNTAVVISNSGAVLGKTRKNHIPRVGDFNESTY
YMEGNLGHPVFQTQFGRIAVNICYGRHHPLNWLMYSINGAEIIFNPSATIGALSESLWPIEARNAAIANHCFTCAINRVGTEHFPNEFTSGDGKKAHQDFGYFYG
SSYVAAPDSSRTPGLSRSRDGLLVAKLDLNLCQQVNDVWNFKMTGRYEMYARELAEAVKSNYSPTIVKE
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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 (6) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (6) |
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 | ||||||
| Roubertie, 2001 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Niklasson, 2002 | Sweden | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Ramelli, 2008 | - | FISH | | | ASD | - | - | - | - | 1 | - | 1 |
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
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.