Evidence Details for BUB3
Basic Information Top
| Gene Symbol: | BUB3 ( BUB3L,hBUB3 ) |
|---|---|
| Gene Full Name: | budding uninhibited by benzimidazoles 3 homolog (yeast) |
| Band: | 10q26.13 |
| Quick Links | Entrez ID:9184; OMIM: 603719; Uniprot ID:BUB3_HUMAN; ENSEMBL ID: ENSG00000154473; HGNC ID: 1151 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>BUB3|9184|nucleotide
ATGACCGGTTCTAACGAGTTCAAGCTGAACCAGCCACCCGAGGATGGCATCTCCTCCGTGAAGTTCAGCCCCAACACCTCCCAGTTCCTGCTTGTCTCCTCCTGG
GACACGTCCGTGCGTCTCTACGATGTGCCGGCCAACTCCATGCGGCTCAAGTACCAGCACACCGGCGCCGTCCTGGACTGCGCCTTCTACGATCCAACGCATGCC
TGGAGTGGAGGACTAGATCATCAATTGAAAATGCATGATTTGAACACTGATCAAGAAAATCTTGTTGGGACCCATGATGCCCCTATCAGATGTGTTGAATACTGT
CCAGAAGTGAATGTGATGGTCACTGGAAGTTGGGATCAGACAGTTAAACTGTGGGATCCCAGAACTCCTTGTAATGCTGGGACCTTCTCTCAGCCTGAAAAGGTA
TATACCCTCTCAGTGTCTGGAGACCGGCTGATTGTGGGAACAGCAGGCCGCAGAGTGTTGGTGTGGGACTTACGGAACATGGGTTACGTGCAGCAGCGCAGGGAG
TCCAGCCTGAAATACCAGACTCGCTGCATACGAGCGTTTCCAAACAAGCAGGGTTATGTATTAAGCTCTATTGAAGGCCGAGTGGCAGTTGAGTATTTGGACCCA
AGCCCTGAGGTACAGAAGAAGAAGTATGCCTTCAAATGTCACAGACTAAAAGAAAATAATATTGAGCAGATTTACCCAGTCAATGCCATTTCTTTTCACAATATC
CACAATACATTTGCCACAGGTGGTTCTGATGGCTTTGTAAATATTTGGGATCCATTTAACAAAAAGCGACTGTGCCAATTCCATCGGTACCCCACGAGCATCGCA
TCACTTGCCTTCAGTAATGATGGGACTACGCTTGCAATAGCGTCATCATATATGTATGAAATGGATGACACAGAACATCCTGAAGATGGTATCTTCATTCGCCAA
GTGACAGATGCAGAAACAAAACCCAAGTCCACCTAA
Show »
ATGACCGGTTCTAACGAGTTCAAGCTGAACCAGCCACCCGAGGATGGCATCTCCTCCGTGAAGTTCAGCCCCAACACCTCCCAGTTCCTGCTTGTCTCCTCCTGG
GACACGTCCGTGCGTCTCTACGATGTGCCGGCCAACTCCATGCGGCTCAAGTACCAGCACACCGGCGCCGTCCTGGACTGCGCCTTCTACGATCCAACGCATGCC
TGGAGTGGAGGACTAGATCATCAATTGAAAATGCATGATTTGAACACTGATCAAGAAAATCTTGTTGGGACCCATGATGCCCCTATCAGATGTGTTGAATACTGT
CCAGAAGTGAATGTGATGGTCACTGGAAGTTGGGATCAGACAGTTAAACTGTGGGATCCCAGAACTCCTTGTAATGCTGGGACCTTCTCTCAGCCTGAAAAGGTA
TATACCCTCTCAGTGTCTGGAGACCGGCTGATTGTGGGAACAGCAGGCCGCAGAGTGTTGGTGTGGGACTTACGGAACATGGGTTACGTGCAGCAGCGCAGGGAG
TCCAGCCTGAAATACCAGACTCGCTGCATACGAGCGTTTCCAAACAAGCAGGGTTATGTATTAAGCTCTATTGAAGGCCGAGTGGCAGTTGAGTATTTGGACCCA
AGCCCTGAGGTACAGAAGAAGAAGTATGCCTTCAAATGTCACAGACTAAAAGAAAATAATATTGAGCAGATTTACCCAGTCAATGCCATTTCTTTTCACAATATC
CACAATACATTTGCCACAGGTGGTTCTGATGGCTTTGTAAATATTTGGGATCCATTTAACAAAAAGCGACTGTGCCAATTCCATCGGTACCCCACGAGCATCGCA
TCACTTGCCTTCAGTAATGATGGGACTACGCTTGCAATAGCGTCATCATATATGTATGAAATGGATGACACAGAACATCCTGAAGATGGTATCTTCATTCGCCAA
GTGACAGATGCAGAAACAAAACCCAAGTCCACCTAA
Show »
>BUB3|9184|protein
MTGSNEFKLNQPPEDGISSVKFSPNTSQFLLVSSWDTSVRLYDVPANSMRLKYQHTGAVLDCAFYDPTHAWSGGLDHQLKMHDLNTDQENLVGTHDAPIRCVEYC
PEVNVMVTGSWDQTVKLWDPRTPCNAGTFSQPEKVYTLSVSGDRLIVGTAGRRVLVWDLRNMGYVQQRRESSLKYQTRCIRAFPNKQGYVLSSIEGRVAVEYLDP
SPEVQKKKYAFKCHRLKENNIEQIYPVNAISFHNIHNTFATGGSDGFVNIWDPFNKKRLCQFHRYPTSIASLAFSNDGTTLAIASSYMYEMDDTEHPEDGIFIRQ
VTDAETKPKST
Show »
MTGSNEFKLNQPPEDGISSVKFSPNTSQFLLVSSWDTSVRLYDVPANSMRLKYQHTGAVLDCAFYDPTHAWSGGLDHQLKMHDLNTDQENLVGTHDAPIRCVEYC
PEVNVMVTGSWDQTVKLWDPRTPCNAGTFSQPEKVYTLSVSGDRLIVGTAGRRVLVWDLRNMGYVQQRRESSLKYQTRCIRAFPNKQGYVLSSIEGRVAVEYLDP
SPEVQKKKYAFKCHRLKENNIEQIYPVNAISFHNIHNTFATGGSDGFVNIWDPFNKKRLCQFHRYPTSIASLAFSNDGTTLAIASSYMYEMDDTEHPEDGIFIRQ
VTDAETKPKST
Show »
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) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (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 | ||||||
| Soueid J, 2016 | Lebanese | - |  | | autistic | 35 | 33 | 2 | - | 41 | 37 | 78 |
Linkage Studies Top