Evidence Details for PBX2
Basic Information Top
| Gene Symbol: | PBX2 ( G17,HOX12,PBX2MHC ) |
|---|---|
| Gene Full Name: | pre-B-cell leukemia homeobox 2 |
| Band: | 6p21.32 |
| Quick Links | Entrez ID:5089; OMIM: 176311; Uniprot ID:PBX2_HUMAN; ENSEMBL ID: ENSG00000204304; HGNC ID: 8633 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PBX2|5089|nucleotide
ATGGACGAACGGCTACTGGGGCCGCCCCCTCCAGGCGGGGGCCGGGGGGGCCTGGGATTGGTGAGTGGGGAGCCTGGGGGCCCTGGCGAGCCTCCCGGTGGCGGA
GACCCCGGTGGGGGTAGCGGGGGGGTCCCGGGAGGCCGAGGGAAGCAAGACATCGGGGACATTCTGCAGCAGATAATGACCATCACCGACCAGAGCCTGGACGAG
GCCCAGGCCAAGAAACACGCCCTAAACTGCCACCGAATGAAGCCTGCTCTCTTTAGCGTCCTGTGTGAAATCAAGGAGAAAACTGGCCTCAGCATTCGGAGCTCC
CAGGAGGAGGAGCCGGTGGACCCACAGCTGATGCGCTTGGACAACATGCTTCTGGCAGAGGGTGTGGCTGGGCCCGAGAAAGGGGGCGGCTCAGCAGCAGCAGCT
GCAGCCGCTGCAGCCTCTGGTGGTGGTGTGTCCCCTGACAACTCCATCGAACACTCGGACTATCGCAGCAAACTTGCCCAGATCCGTCACATATACCACTCGGAG
CTGGAGAAGTATGAGCAGGCATGTAATGAGTTCACGACCCATGTCATGAACCTGCTGAGGGAGCAGAGCCGCACCAGGCCCGTGGCCCCCAAAGAGATGGAACGC
ATGGTGAGCATCATCCATCGAAAGTTCAGCGCCATCCAGATGCAGCTGAAGCAGAGCACCTGCGAGGCTGTGATGATCCTGCGCTCCCGTTTCCTGGATGCCAGA
CGAAAGCGCCGTAACTTCAGCAAACAGGCCACTGAGGTCCTAAATGAGTATTTCTACTCCCACCTGAGTAACCCATATCCTAGTGAGGAGGCCAAGGAGGAGCTT
GCCAAGAAGTGTGGCATCACCGTGTCTCAGGTCTCCAACTGGTTTGGCAACAAGAGGATTCGCTATAAGAAAAACATCGGAAAGTTCCAAGAGGAGGCAAACATC
TATGCTGTCAAGACCGCCGTGTCAGTCACCCAGGGGGGCCACAGCCGCACCAGCTCCCCGACACCCCCTTCCTCTGCAGGCTCTGGCGGCTCTTTCAATCTCTCA
GGATCTGGAGACATGTTTCTGGGGATGCCTGGGCTCAACGGAGATTCCTATTCTGCTTCCCAGGTGGAATCACTCCGACACTCGATGGGGCCAGGGGGCTATGGG
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ATGGACGAACGGCTACTGGGGCCGCCCCCTCCAGGCGGGGGCCGGGGGGGCCTGGGATTGGTGAGTGGGGAGCCTGGGGGCCCTGGCGAGCCTCCCGGTGGCGGA
GACCCCGGTGGGGGTAGCGGGGGGGTCCCGGGAGGCCGAGGGAAGCAAGACATCGGGGACATTCTGCAGCAGATAATGACCATCACCGACCAGAGCCTGGACGAG
GCCCAGGCCAAGAAACACGCCCTAAACTGCCACCGAATGAAGCCTGCTCTCTTTAGCGTCCTGTGTGAAATCAAGGAGAAAACTGGCCTCAGCATTCGGAGCTCC
CAGGAGGAGGAGCCGGTGGACCCACAGCTGATGCGCTTGGACAACATGCTTCTGGCAGAGGGTGTGGCTGGGCCCGAGAAAGGGGGCGGCTCAGCAGCAGCAGCT
GCAGCCGCTGCAGCCTCTGGTGGTGGTGTGTCCCCTGACAACTCCATCGAACACTCGGACTATCGCAGCAAACTTGCCCAGATCCGTCACATATACCACTCGGAG
CTGGAGAAGTATGAGCAGGCATGTAATGAGTTCACGACCCATGTCATGAACCTGCTGAGGGAGCAGAGCCGCACCAGGCCCGTGGCCCCCAAAGAGATGGAACGC
ATGGTGAGCATCATCCATCGAAAGTTCAGCGCCATCCAGATGCAGCTGAAGCAGAGCACCTGCGAGGCTGTGATGATCCTGCGCTCCCGTTTCCTGGATGCCAGA
CGAAAGCGCCGTAACTTCAGCAAACAGGCCACTGAGGTCCTAAATGAGTATTTCTACTCCCACCTGAGTAACCCATATCCTAGTGAGGAGGCCAAGGAGGAGCTT
GCCAAGAAGTGTGGCATCACCGTGTCTCAGGTCTCCAACTGGTTTGGCAACAAGAGGATTCGCTATAAGAAAAACATCGGAAAGTTCCAAGAGGAGGCAAACATC
TATGCTGTCAAGACCGCCGTGTCAGTCACCCAGGGGGGCCACAGCCGCACCAGCTCCCCGACACCCCCTTCCTCTGCAGGCTCTGGCGGCTCTTTCAATCTCTCA
GGATCTGGAGACATGTTTCTGGGGATGCCTGGGCTCAACGGAGATTCCTATTCTGCTTCCCAGGTGGAATCACTCCGACACTCGATGGGGCCAGGGGGCTATGGG
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>PBX2|5089|protein
MDERLLGPPPPGGGRGGLGLVSGEPGGPGEPPGGGDPGGGSGGVPGGRGKQDIGDILQQIMTITDQSLDEAQAKKHALNCHRMKPALFSVLCEIKEKTGLSIRSS
QEEEPVDPQLMRLDNMLLAEGVAGPEKGGGSAAAAAAAAASGGGVSPDNSIEHSDYRSKLAQIRHIYHSELEKYEQACNEFTTHVMNLLREQSRTRPVAPKEMER
MVSIIHRKFSAIQMQLKQSTCEAVMILRSRFLDARRKRRNFSKQATEVLNEYFYSHLSNPYPSEEAKEELAKKCGITVSQVSNWFGNKRIRYKKNIGKFQEEANI
YAVKTAVSVTQGGHSRTSSPTPPSSAGSGGSFNLSGSGDMFLGMPGLNGDSYSASQVESLRHSMGPGGYGDNLGGGQMYSPREMRANGSWQEAVTPSSVTSPTEG
PGSVHSDTSN
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MDERLLGPPPPGGGRGGLGLVSGEPGGPGEPPGGGDPGGGSGGVPGGRGKQDIGDILQQIMTITDQSLDEAQAKKHALNCHRMKPALFSVLCEIKEKTGLSIRSS
QEEEPVDPQLMRLDNMLLAEGVAGPEKGGGSAAAAAAAAASGGGVSPDNSIEHSDYRSKLAQIRHIYHSELEKYEQACNEFTTHVMNLLREQSRTRPVAPKEMER
MVSIIHRKFSAIQMQLKQSTCEAVMILRSRFLDARRKRRNFSKQATEVLNEYFYSHLSNPYPSEEAKEELAKKCGITVSQVSNWFGNKRIRYKKNIGKFQEEANI
YAVKTAVSVTQGGHSRTSSPTPPSSAGSGGSFNLSGSGDMFLGMPGLNGDSYSASQVESLRHSMGPGGYGDNLGGGQMYSPREMRANGSWQEAVTPSSVTSPTEG
PGSVHSDTSN
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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 (2) | 0 (0) | 0 (0) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 13 (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 | ||||||
| Gregory, 2009 | USA | aCGH |  |  | ASD | - | - | - | - | 119 | 54 | 173 |
| Berkel, 2010 | Canada | SNP microarray | | | ASD | - | - | - | - | 396 | 5023 | 5419 |
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 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Kuwano, 2011_2 | Japan | Mother with ASD children | 21 (100.00%) | - | - | - | - | 21 (100.00%) |
-2.27 | Down | 0.00317 | |
| ||||||||||||
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.