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 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top