Evidence Details for PBK
Basic Information Top
| Gene Symbol: | PBK ( CT84,FLJ14385,Nori-3,SPK,TOPK ) |
|---|---|
| Gene Full Name: | PDZ binding kinase |
| Band: | 8p21.1 |
| Quick Links | Entrez ID:55872; OMIM: 611210; Uniprot ID:TOPK_HUMAN; ENSEMBL ID: ENSG00000168078; HGNC ID: 18282 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PBK|55872|nucleotide
ATGGAAGGGATCAGTAATTTCAAGACACCAAGCAAATTATCAGAAAAAAAGAAATCTGTATTATGTTCAACTCCAACTATAAATATCCCGGCCTCTCCGTTTATG
CAGAAGCTTGGCTTTGGTACTGGGGTAAATGTGTACCTAATGAAAAGATCTCCAAGAGGTTTGTCTCATTCTCCTTGGGCTGTAAAAAAGATTAATCCTATATGT
AATGATCATTATCGAAGTGTGTATCAAAAGAGACTAATGGATGAAGCTAAGATTTTGAAAAGCCTTCATCATCCAAACATTGTTGGTTATCGTGCTTTTACTGAA
GCCAATGATGGCAGTCTGTGTCTTGCTATGGAATATGGAGGTGAAAAGTCTCTAAATGACTTAATAGAAGAACGATATAAAGCCAGCCAAGATCCTTTTCCAGCA
GCCATAATTTTAAAAGTTGCTTTGAATATGGCAAGAGGGTTAAAGTATCTGCACCAAGAAAAGAAACTGCTTCATGGAGACATAAAGTCTTCAAATGTTGTAATT
AAAGGCGATTTTGAAACAATTAAAATCTGTGATGTAGGAGTCTCTCTACCACTGGATGAAAATATGACTGTGACTGACCCTGAGGCTTGTTACATTGGCACAGAG
CCATGGAAACCCAAAGAAGCTGTGGAGGAGAATGGTGTTATTACTGACAAGGCAGACATATTTGCCTTTGGCCTTACTTTGTGGGAAATGATGACTTTATCGATT
CCACACATTAATCTTTCAAATGATGATGATGATGAAGATAAAACTTTTGATGAAAGTGATTTTGATGATGAAGCATACTATGCAGCGTTGGGAACTAGGCCACCT
ATTAATATGGAAGAACTGGATGAATCATACCAGAAAGTAATTGAACTCTTCTCTGTATGCACTAATGAAGACCCTAAAGATCGTCCTTCTGCTGCACACATTGTT
GAAGCTCTGGAAACAGATGTCTAG
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ATGGAAGGGATCAGTAATTTCAAGACACCAAGCAAATTATCAGAAAAAAAGAAATCTGTATTATGTTCAACTCCAACTATAAATATCCCGGCCTCTCCGTTTATG
CAGAAGCTTGGCTTTGGTACTGGGGTAAATGTGTACCTAATGAAAAGATCTCCAAGAGGTTTGTCTCATTCTCCTTGGGCTGTAAAAAAGATTAATCCTATATGT
AATGATCATTATCGAAGTGTGTATCAAAAGAGACTAATGGATGAAGCTAAGATTTTGAAAAGCCTTCATCATCCAAACATTGTTGGTTATCGTGCTTTTACTGAA
GCCAATGATGGCAGTCTGTGTCTTGCTATGGAATATGGAGGTGAAAAGTCTCTAAATGACTTAATAGAAGAACGATATAAAGCCAGCCAAGATCCTTTTCCAGCA
GCCATAATTTTAAAAGTTGCTTTGAATATGGCAAGAGGGTTAAAGTATCTGCACCAAGAAAAGAAACTGCTTCATGGAGACATAAAGTCTTCAAATGTTGTAATT
AAAGGCGATTTTGAAACAATTAAAATCTGTGATGTAGGAGTCTCTCTACCACTGGATGAAAATATGACTGTGACTGACCCTGAGGCTTGTTACATTGGCACAGAG
CCATGGAAACCCAAAGAAGCTGTGGAGGAGAATGGTGTTATTACTGACAAGGCAGACATATTTGCCTTTGGCCTTACTTTGTGGGAAATGATGACTTTATCGATT
CCACACATTAATCTTTCAAATGATGATGATGATGAAGATAAAACTTTTGATGAAAGTGATTTTGATGATGAAGCATACTATGCAGCGTTGGGAACTAGGCCACCT
ATTAATATGGAAGAACTGGATGAATCATACCAGAAAGTAATTGAACTCTTCTCTGTATGCACTAATGAAGACCCTAAAGATCGTCCTTCTGCTGCACACATTGTT
GAAGCTCTGGAAACAGATGTCTAG
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>PBK|55872|protein
MEGISNFKTPSKLSEKKKSVLCSTPTINIPASPFMQKLGFGTGVNVYLMKRSPRGLSHSPWAVKKINPICNDHYRSVYQKRLMDEAKILKSLHHPNIVGYRAFTE
ANDGSLCLAMEYGGEKSLNDLIEERYKASQDPFPAAIILKVALNMARGLKYLHQEKKLLHGDIKSSNVVIKGDFETIKICDVGVSLPLDENMTVTDPEACYIGTE
PWKPKEAVEENGVITDKADIFAFGLTLWEMMTLSIPHINLSNDDDDEDKTFDESDFDDEAYYAALGTRPPINMEELDESYQKVIELFSVCTNEDPKDRPSAAHIV
EALETDV
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MEGISNFKTPSKLSEKKKSVLCSTPTINIPASPFMQKLGFGTGVNVYLMKRSPRGLSHSPWAVKKINPICNDHYRSVYQKRLMDEAKILKSLHHPNIVGYRAFTE
ANDGSLCLAMEYGGEKSLNDLIEERYKASQDPFPAAIILKVALNMARGLKYLHQEKKLLHGDIKSSNVVIKGDFETIKICDVGVSLPLDENMTVTDPEACYIGTE
PWKPKEAVEENGVITDKADIFAFGLTLWEMMTLSIPHINLSNDDDDEDKTFDESDFDDEAYYAALGTRPPINMEELDESYQKVIELFSVCTNEDPKDRPSAAHIV
EALETDV
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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) | 0 (0) | 0 (0) | 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 | ||||||
| Papanikolaou, 2006 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Berkel, 2010 | Canada | SNP microarray | | | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies Top