Evidence Details for PRKX
Basic Information Top
| Gene Symbol: | PRKX ( PKX1 ) |
|---|---|
| Gene Full Name: | protein kinase, X-linked |
| Band: | Xp22.33 |
| Quick Links | Entrez ID:5613; OMIM: 300083; Uniprot ID:PRKX_HUMAN; ENSEMBL ID: ENSG00000183943; HGNC ID: 9441 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PRKX|5613|nucleotide
ATGGAGGCGCCCGGGCTGGCCCAGGCGGCCGCGGCGGAGAGCGACTCCCGCAAGGTGGCGGAGGAGACCCCCGACGGGGCGCCCGCGCTCTGCCCCAGCCCTGAG
GCGCTGTCGCCGGAGCCGCCTGTGTACAGCCTGCAGGACTTTGACACGCTGGCCACCGTGGGCACTGGGACGTTCGGGCGGGTGCACCTGGTGAAGGAGAAGACA
GCCAAGCATTTCTTCGCCCTCAAGGTGATGAGCATTCCCGACGTCATCCGCCTAAAGCAGGAGCAACACGTACACAATGAGAAGTCTGTCCTGAAGGAAGTCAGC
CACCCGTTCCTCATCAGGCTGTTCTGGACGTGGCATGACGAGCGCTTCCTCTACATGCTCATGGAGTACGTGCCGGGCGGCGAGCTCTTCAGCTACCTGCGCAAC
CGGGGGCGCTTCTCCAGCACCACGGGGCTCTTCTACTCTGCAGAGATCATCTGTGCCATCGAGTACCTGCACTCCAAAGAGATCGTCTACAGGGACTTGAAGCCA
GAGAACATCCTGCTGGATAGGGATGGCCACATTAAGCTCACGGACTTTGGGTTCGCCAAGAAGCTGGTAGACAGGACTTGGACCCTCTGTGGAACACCCGAGTAC
CTAGCCCCCGAAGTCATTCAGAGCAAGGGCCACGGAAGGGCCGTGGACTGGTGGGCCCTCGGCATCCTGATATTCGAGATGCTTTCGGGGTTTCCTCCGTTTTTT
GATGACAACCCGTTTGGCATTTATCAGAAAATTCTTGCAGGCAAAATAGATTTCCCCAGACATTTGGATTTCCATGTAAAAGACCTCATTAAGAAACTGCTCGTG
GTTGACAGAACAAGGCGATTAGGAAACATGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAA
CTGAAGCCTCCCATCGTGCCCAAGATAGCTGGTGACGGCGACACTTCCAACTTCGAAACTTACCCTGAGAATGACTGGGACACAGCCGCGCCCGTGCCGCAGAAG
GATTTAGAAATCTTCAAGAATTTCTGA
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ATGGAGGCGCCCGGGCTGGCCCAGGCGGCCGCGGCGGAGAGCGACTCCCGCAAGGTGGCGGAGGAGACCCCCGACGGGGCGCCCGCGCTCTGCCCCAGCCCTGAG
GCGCTGTCGCCGGAGCCGCCTGTGTACAGCCTGCAGGACTTTGACACGCTGGCCACCGTGGGCACTGGGACGTTCGGGCGGGTGCACCTGGTGAAGGAGAAGACA
GCCAAGCATTTCTTCGCCCTCAAGGTGATGAGCATTCCCGACGTCATCCGCCTAAAGCAGGAGCAACACGTACACAATGAGAAGTCTGTCCTGAAGGAAGTCAGC
CACCCGTTCCTCATCAGGCTGTTCTGGACGTGGCATGACGAGCGCTTCCTCTACATGCTCATGGAGTACGTGCCGGGCGGCGAGCTCTTCAGCTACCTGCGCAAC
CGGGGGCGCTTCTCCAGCACCACGGGGCTCTTCTACTCTGCAGAGATCATCTGTGCCATCGAGTACCTGCACTCCAAAGAGATCGTCTACAGGGACTTGAAGCCA
GAGAACATCCTGCTGGATAGGGATGGCCACATTAAGCTCACGGACTTTGGGTTCGCCAAGAAGCTGGTAGACAGGACTTGGACCCTCTGTGGAACACCCGAGTAC
CTAGCCCCCGAAGTCATTCAGAGCAAGGGCCACGGAAGGGCCGTGGACTGGTGGGCCCTCGGCATCCTGATATTCGAGATGCTTTCGGGGTTTCCTCCGTTTTTT
GATGACAACCCGTTTGGCATTTATCAGAAAATTCTTGCAGGCAAAATAGATTTCCCCAGACATTTGGATTTCCATGTAAAAGACCTCATTAAGAAACTGCTCGTG
GTTGACAGAACAAGGCGATTAGGAAACATGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAA
CTGAAGCCTCCCATCGTGCCCAAGATAGCTGGTGACGGCGACACTTCCAACTTCGAAACTTACCCTGAGAATGACTGGGACACAGCCGCGCCCGTGCCGCAGAAG
GATTTAGAAATCTTCAAGAATTTCTGA
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>PRKX|5613|protein
MEAPGLAQAAAAESDSRKVAEETPDGAPALCPSPEALSPEPPVYSLQDFDTLATVGTGTFGRVHLVKEKTAKHFFALKVMSIPDVIRLKQEQHVHNEKSVLKEVS
HPFLIRLFWTWHDERFLYMLMEYVPGGELFSYLRNRGRFSSTTGLFYSAEIICAIEYLHSKEIVYRDLKPENILLDRDGHIKLTDFGFAKKLVDRTWTLCGTPEY
LAPEVIQSKGHGRAVDWWALGILIFEMLSGFPPFFDDNPFGIYQKILAGKIDFPRHLDFHVKDLIKKLLVVDRTRRLGNMKNGANDVKHHRWFRSVDWEAVPQRK
LKPPIVPKIAGDGDTSNFETYPENDWDTAAPVPQKDLEIFKNF
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MEAPGLAQAAAAESDSRKVAEETPDGAPALCPSPEALSPEPPVYSLQDFDTLATVGTGTFGRVHLVKEKTAKHFFALKVMSIPDVIRLKQEQHVHNEKSVLKEVS
HPFLIRLFWTWHDERFLYMLMEYVPGGELFSYLRNRGRFSSTTGLFYSAEIICAIEYLHSKEIVYRDLKPENILLDRDGHIKLTDFGFAKKLVDRTWTLCGTPEY
LAPEVIQSKGHGRAVDWWALGILIFEMLSGFPPFFDDNPFGIYQKILAGKIDFPRHLDFHVKDLIKKLLVVDRTRRLGNMKNGANDVKHHRWFRSVDWEAVPQRK
LKPPIVPKIAGDGDTSNFETYPENDWDTAAPVPQKDLEIFKNF
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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 | 2 (2) | 1 (4) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 10 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Wang, 2009_1 | Discovery | Illumina HumanHap550 BeadChip | 780 | 1299 (-) |  | | ASD | - - |
- - | ||
Case Control Based Association Studies: 1
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| CAUCASIAN | ||||||||||||
| Wang, 2009_2 | Discovery | Illumina HumanHap550 BeadChip | 1204 (-) | | | ASD | 10.3±6.6 - |
10.9±6.7 | 6491 (-) |
8.8±5.4 - | ||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Thomas, 1999 | - | FISH | |  | autism | - | - | - | - | 3 | - | 3 |
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
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.