Evidence Details for PQBP1
Basic Information Top
| Gene Symbol: | PQBP1 ( MRX55,MRXS3,MRXS8,NPW38,RENS1,SHS ) |
|---|---|
| Gene Full Name: | polyglutamine binding protein 1 |
| Band: | Xp11.23 |
| Quick Links | Entrez ID:10084; OMIM: 300463; Uniprot ID:PQBP1_HUMAN; ENSEMBL ID: ENSG00000102103; HGNC ID: 9330 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PQBP1|10084|nucleotide
ATGCCGCTGCCCGTTGCGCTGCAGACCCGCTTGGCCAAGAGAGGCATCCTCAAACATCTGGAGCCTGAACCAGAGGAAGAGATCATTGCCGAGGACTATGACGAT
GATCCTGTGGACTACGAGGCCACCAGGTTGGAGGGCCTACCACCAAGCTGGTACAAGGTGTTCGACCCTTCCTGCGGGCTCCCTTACTACTGGAATGCAGACACA
GACCTTGTATCCTGGCTCTCCCCACATGACCCCAACTCCGTGGTTACCAAATCGGCCAAGAAGCTCAGAAGCAGTAATGCAGATGCTGAAGAAAAGTTGGACCGG
AGCCATGACAAGTCGGACAGGGGCCATGACAAGTCGGACCGCAGCCATGAGAAACTAGACAGGGGCCACGACAAGTCAGACCGGGGCCACGACAAGTCTGACAGG
GATCGAGAGCGTGGCTATGACAAGGTAGACAGAGAGAGAGAGCGAGACAGGGAACGGGATCGGGACCGCGGGTATGACAAGGCAGACCGGGAAGAGGGCAAAGAA
CGGCGCCACCATCGCCGGGAGGAGCTGGCTCCCTATCCCAAGAGCAAGAAGGCAGTAAGCCGAAAGGATGAAGAGTTAGACCCCATGGACCCTAGCTCATACTCA
GACGCCCCCCGGGGCACGTGGTCAACAGGACTCCCCAAGCGGAATGAGGCCAAGACTGGCGCTGACACCACAGCAGCTGGGCCCCTCTTCCAGCAGCGGCCGTAT
CCATCCCCAGGGGCTGTGCTCCGGGCCAATGCAGAGGCCTCCCGAACCAAGCAGCAGGATTGA
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ATGCCGCTGCCCGTTGCGCTGCAGACCCGCTTGGCCAAGAGAGGCATCCTCAAACATCTGGAGCCTGAACCAGAGGAAGAGATCATTGCCGAGGACTATGACGAT
GATCCTGTGGACTACGAGGCCACCAGGTTGGAGGGCCTACCACCAAGCTGGTACAAGGTGTTCGACCCTTCCTGCGGGCTCCCTTACTACTGGAATGCAGACACA
GACCTTGTATCCTGGCTCTCCCCACATGACCCCAACTCCGTGGTTACCAAATCGGCCAAGAAGCTCAGAAGCAGTAATGCAGATGCTGAAGAAAAGTTGGACCGG
AGCCATGACAAGTCGGACAGGGGCCATGACAAGTCGGACCGCAGCCATGAGAAACTAGACAGGGGCCACGACAAGTCAGACCGGGGCCACGACAAGTCTGACAGG
GATCGAGAGCGTGGCTATGACAAGGTAGACAGAGAGAGAGAGCGAGACAGGGAACGGGATCGGGACCGCGGGTATGACAAGGCAGACCGGGAAGAGGGCAAAGAA
CGGCGCCACCATCGCCGGGAGGAGCTGGCTCCCTATCCCAAGAGCAAGAAGGCAGTAAGCCGAAAGGATGAAGAGTTAGACCCCATGGACCCTAGCTCATACTCA
GACGCCCCCCGGGGCACGTGGTCAACAGGACTCCCCAAGCGGAATGAGGCCAAGACTGGCGCTGACACCACAGCAGCTGGGCCCCTCTTCCAGCAGCGGCCGTAT
CCATCCCCAGGGGCTGTGCTCCGGGCCAATGCAGAGGCCTCCCGAACCAAGCAGCAGGATTGA
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>PQBP1|10084|protein
MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHDPNSVVTKSAKKLRSSNADAEEKLDR
SHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERDRDRGYDKADREEGKERRHHRREELAPYPKSKKAVSRKDEELDPMDPSSYS
DAPRGTWSTGLPKRNEAKTGADTTAAGPLFQQRPYPSPGAVLRANAEASRTKQQD
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MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSCGLPYYWNADTDLVSWLSPHDPNSVVTKSAKKLRSSNADAEEKLDR
SHDKSDRGHDKSDRSHEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERDRDRGYDKADREEGKERRHHRREELAPYPKSKKAVSRKDEELDPMDPSSYS
DAPRGTWSTGLPKRNEAKTGADTTAAGPLFQQRPYPSPGAVLRANAEASRTKQQD
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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) | Yes | 0 (0) | 1 (5) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (5) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | XL |
|---|---|
| OMIM | Renpenning syndrome (309500) |
| Description | Large spectrum of ID phenotypes, including Renpenning syndrome (microcephaly, short stature, small testes and dysmorphic features) and non-syndromic ID |
| Reference(s) | 16493439; 15782410; |
| Level | Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
Genome-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 | ||||||
| Marshall, 2008 | - | SNP microarray |  | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Edens, 2011 | Honduras | aCGH | |  | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Chung, 2011 | - | SNP microarray | | | ASD | - | - | - | - | 1 | - | 1 |
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.