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 Top