Evidence Details for PTK6
Basic Information Top
| Gene Symbol: | PTK6 ( BRK,FLJ42088 ) |
|---|---|
| Gene Full Name: | PTK6 protein tyrosine kinase 6 |
| Band: | 20q13.33 |
| Quick Links | Entrez ID:5753; OMIM: 602004; Uniprot ID:PTK6_HUMAN; ENSEMBL ID: ENSG00000101213; HGNC ID: 9617 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PTK6|5753|nucleotide
ATGGTGTCCCGGGACCAGGCTCACCTGGGCCCCAAGTATGTGGGCCTCTGGGACTTCAAGTCCCGGACGGACGAGGAGCTGAGCTTCCGCGCGGGGGACGTCTTC
CACGTGGCCAGGAAGGAGGAGCAGTGGTGGTGGGCCACGCTGCTGGACGAGGCGGGTGGGGCCGTGGCCCAGGGCTATGTGCCCCACAACTACCTGGCCGAGAGG
GAGACGGTGGAGTCGGAACCGTGGTTCTTTGGCTGCATCTCCCGCTCGGAAGCTGTGCGTCGGCTGCAGGCCGAGGGCAACGCCACGGGCGCCTTCCTGATCAGG
GTCAGCGAGAAGCCGAGTGCCGACTACGTCCTGTCGGTGCGGGACACGCAGGCTGTGCGGCACTACAAGATCTGGCGGCGTGCCGGGGGCCGGCTGCACCTGAAC
GAGGCGGTGTCCTTCCTCAGCCTGCCCGAGCTTGTGAACTACCACAGGGCCCAGAGCCTGTCCCACGGCCTGCGGCTGGCCGCGCCCTGCCGGAAGCACGAGCCT
GAGCCCCTGCCCCATTGGGATGACTGGGAGAGGCCGAGGGAGGAGTTCACGCTCTGCAGGAAGCTGGGGTCCGGCTACTTTGGGGAGGTCTTCGAGGGGCTCTGG
AAAGACCGGGTCCAGGTGGCCATTAAGGTGATTTCTCGAGACAACCTCCTGCACCAGCAGATGCTGCAGTCGGAGATCCAGGCCATGAAGAAGCTGCGGCACAAA
CACATCCTGGCGCTGTACGCCGTGGTGTCCGTGGGGGACCCCGTGTACATCATCACGGAGCTCATGGCCAAGGGCAGCCTGCTGGAGCTGCTCCGCGACTCTGAT
GAGAAAGTCCTGCCCGTTTCGGAGCTGCTGGACATCGCCTGGCAGGTGGCTGAGGGCATGTGTTACCTGGAGTCGCAGAATTACATCCACCGGGACCTGGCCGCC
AGGAACATCCTCGTCGGGGAAAACACCCTCTGCAAAGTTGGGGACTTCGGGTTAGCCAGGCTTATCAAGGAGGACGTCTACCTCTCCCATGACCACAATATCCCC
TACAAGTGGACGGCCCCTGAAGCGCTCTCCCGAGGCCATTACTCCACCAAATCCGACGTCTGGTCCTTTGGGATTCTCCTGCATGAGATGTTCAGCAGGGGTCAG
Show »
ATGGTGTCCCGGGACCAGGCTCACCTGGGCCCCAAGTATGTGGGCCTCTGGGACTTCAAGTCCCGGACGGACGAGGAGCTGAGCTTCCGCGCGGGGGACGTCTTC
CACGTGGCCAGGAAGGAGGAGCAGTGGTGGTGGGCCACGCTGCTGGACGAGGCGGGTGGGGCCGTGGCCCAGGGCTATGTGCCCCACAACTACCTGGCCGAGAGG
GAGACGGTGGAGTCGGAACCGTGGTTCTTTGGCTGCATCTCCCGCTCGGAAGCTGTGCGTCGGCTGCAGGCCGAGGGCAACGCCACGGGCGCCTTCCTGATCAGG
GTCAGCGAGAAGCCGAGTGCCGACTACGTCCTGTCGGTGCGGGACACGCAGGCTGTGCGGCACTACAAGATCTGGCGGCGTGCCGGGGGCCGGCTGCACCTGAAC
GAGGCGGTGTCCTTCCTCAGCCTGCCCGAGCTTGTGAACTACCACAGGGCCCAGAGCCTGTCCCACGGCCTGCGGCTGGCCGCGCCCTGCCGGAAGCACGAGCCT
GAGCCCCTGCCCCATTGGGATGACTGGGAGAGGCCGAGGGAGGAGTTCACGCTCTGCAGGAAGCTGGGGTCCGGCTACTTTGGGGAGGTCTTCGAGGGGCTCTGG
AAAGACCGGGTCCAGGTGGCCATTAAGGTGATTTCTCGAGACAACCTCCTGCACCAGCAGATGCTGCAGTCGGAGATCCAGGCCATGAAGAAGCTGCGGCACAAA
CACATCCTGGCGCTGTACGCCGTGGTGTCCGTGGGGGACCCCGTGTACATCATCACGGAGCTCATGGCCAAGGGCAGCCTGCTGGAGCTGCTCCGCGACTCTGAT
GAGAAAGTCCTGCCCGTTTCGGAGCTGCTGGACATCGCCTGGCAGGTGGCTGAGGGCATGTGTTACCTGGAGTCGCAGAATTACATCCACCGGGACCTGGCCGCC
AGGAACATCCTCGTCGGGGAAAACACCCTCTGCAAAGTTGGGGACTTCGGGTTAGCCAGGCTTATCAAGGAGGACGTCTACCTCTCCCATGACCACAATATCCCC
TACAAGTGGACGGCCCCTGAAGCGCTCTCCCGAGGCCATTACTCCACCAAATCCGACGTCTGGTCCTTTGGGATTCTCCTGCATGAGATGTTCAGCAGGGGTCAG
Show »
>PTK6|5753|protein
MVSRDQAHLGPKYVGLWDFKSRTDEELSFRAGDVFHVARKEEQWWWATLLDEAGGAVAQGYVPHNYLAERETVESEPWFFGCISRSEAVRRLQAEGNATGAFLIR
VSEKPSADYVLSVRDTQAVRHYKIWRRAGGRLHLNEAVSFLSLPELVNYHRAQSLSHGLRLAAPCRKHEPEPLPHWDDWERPREEFTLCRKLGSGYFGEVFEGLW
KDRVQVAIKVISRDNLLHQQMLQSEIQAMKKLRHKHILALYAVVSVGDPVYIITELMAKGSLLELLRDSDEKVLPVSELLDIAWQVAEGMCYLESQNYIHRDLAA
RNILVGENTLCKVGDFGLARLIKEDVYLSHDHNIPYKWTAPEALSRGHYSTKSDVWSFGILLHEMFSRGQVPYPGMSNHEAFLRVDAGYRMPCPLECPPSVHKLM
LTCWCRDPEQRPCFKALRERLSSFTSYENPT
Show »
MVSRDQAHLGPKYVGLWDFKSRTDEELSFRAGDVFHVARKEEQWWWATLLDEAGGAVAQGYVPHNYLAERETVESEPWFFGCISRSEAVRRLQAEGNATGAFLIR
VSEKPSADYVLSVRDTQAVRHYKIWRRAGGRLHLNEAVSFLSLPELVNYHRAQSLSHGLRLAAPCRKHEPEPLPHWDDWERPREEFTLCRKLGSGYFGEVFEGLW
KDRVQVAIKVISRDNLLHQQMLQSEIQAMKKLRHKHILALYAVVSVGDPVYIITELMAKGSLLELLRDSDEKVLPVSELLDIAWQVAEGMCYLESQNYIHRDLAA
RNILVGENTLCKVGDFGLARLIKEDVYLSHDHNIPYKWTAPEALSRGHYSTKSDVWSFGILLHEMFSRGQVPYPGMSNHEAFLRVDAGYRMPCPLECPPSVHKLM
LTCWCRDPEQRPCFKALRERLSSFTSYENPT
Show »
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 | 1 (1) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 6 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 0
| Reference | Stage | Platform | #Families | Affecteds | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||||
| No Evidence. | ||||||||||||
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) |
|||||
| MIXED/OTHERS | ||||||||||||
| Anney RJL, 2017_3 | replication | 1369 (-) |  | | ASD | - - |
- | 137308 (-) |
- - | |||
CNV 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 |
| Berkel, 2010 | Canada | SNP microarray | | | ASD | - | - | - | - | 396 | 5023 | 5419 |
| 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.