Evidence Details for STK39
Basic Information Top
| Gene Symbol: | STK39 ( DCHT,DKFZp686K05124,PASK,SPAK ) |
|---|---|
| Gene Full Name: | serine threonine kinase 39 |
| Band: | 2q24.3 |
| Quick Links | Entrez ID:27347; OMIM: 607648; Uniprot ID:STK39_HUMAN; ENSEMBL ID: ENSG00000198648; HGNC ID: 17717 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>STK39|27347|nucleotide
ATGGCGGAGCCGAGCGGCTCGCCCGTGCACGTCCAGCTTCCCCAGCAGGCGGCCCCGGTGACAGCGGCGGCGGCGGCGGCCCCGGCGGCCGCGACAGCAGCGCCG
GCCCCGGCAGCTCCCGCGGCCCCGGCCCCGGCCCCGGCCCCGGCGGCACAGGCTGTCGGCTGGCCCATCTGCAGGGACGCGTACGAGCTGCAGGAGGTTATCGGC
AGTGGAGCTACTGCTGTGGTTCAGGCAGCCCTATGCAAACCCAGGCAAGAACGTGTAGCAATAAAACGGATCAACTTGGAAAAATGCCAGACCAGTATGGATGAA
CTATTAAAAGAAATTCAAGCCATGAGTCAGTGCAGCCATCCCAACGTAGTGACCTATTACACCTCTTTTGTGGTCAAAGATGAACTTTGGCTGGTCATGAAATTA
CTAAGTGGAGGTTCAATGTTGGATATCATAAAATACATTGTCAACCGAGGAGAACACAAGAATGGAGTTCTGGAAGAGGCAATAATAGCAACAATTCTTAAAGAG
GTTTTGGAAGGCTTAGACTATCTACACAGAAACGGTCAGATTCACAGGGATTTGAAAGCTGGTAATATTCTTCTGGGTGAGGATGGTTCAGTACAAATAGCAGAT
TTTGGGGTAAGTGCGTTCCTAGCAACAGGGGGTGATGTTACCCGAAATAAAGTAAGAAAAACATTCGTTGGCACCCCATGTTGGATGGCTCCTGAAGTCATGGAA
CAGGTGAGAGGCTATGACTTCAAGGCTGACATGTGGAGTTTTGGAATAACTGCCATTGAATTAGCAACAGGAGCAGCGCCTTATCACAAATATCCTCCCATGAAA
GTGTTAATGTTGACTTTGCAAAATGATCCACCCACTTTGGAAACAGGGGTAGAGGATAAAGAAATGATGAAAAAGTACGGCAAGTCCTTTAGAAAATTACTTTCA
CTGTGTCTTCAGAAAGATCCTTCCAAAAGGCCCACAGCAGCAGAACTTTTAAAATGCAAATTCTTCCAGAAAGCCAAGAACAGAGAGTACCTGATTGAGAAGCTG
CTTACAAGAACACCAGACATAGCCCAAAGAGCCAAAAAGGTAAGAAGAGTTCCTGGGTCAAGTGGTCACCTTCATAAAACCGAAGACGGGGACTGGGAGTGGAGT
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ATGGCGGAGCCGAGCGGCTCGCCCGTGCACGTCCAGCTTCCCCAGCAGGCGGCCCCGGTGACAGCGGCGGCGGCGGCGGCCCCGGCGGCCGCGACAGCAGCGCCG
GCCCCGGCAGCTCCCGCGGCCCCGGCCCCGGCCCCGGCCCCGGCGGCACAGGCTGTCGGCTGGCCCATCTGCAGGGACGCGTACGAGCTGCAGGAGGTTATCGGC
AGTGGAGCTACTGCTGTGGTTCAGGCAGCCCTATGCAAACCCAGGCAAGAACGTGTAGCAATAAAACGGATCAACTTGGAAAAATGCCAGACCAGTATGGATGAA
CTATTAAAAGAAATTCAAGCCATGAGTCAGTGCAGCCATCCCAACGTAGTGACCTATTACACCTCTTTTGTGGTCAAAGATGAACTTTGGCTGGTCATGAAATTA
CTAAGTGGAGGTTCAATGTTGGATATCATAAAATACATTGTCAACCGAGGAGAACACAAGAATGGAGTTCTGGAAGAGGCAATAATAGCAACAATTCTTAAAGAG
GTTTTGGAAGGCTTAGACTATCTACACAGAAACGGTCAGATTCACAGGGATTTGAAAGCTGGTAATATTCTTCTGGGTGAGGATGGTTCAGTACAAATAGCAGAT
TTTGGGGTAAGTGCGTTCCTAGCAACAGGGGGTGATGTTACCCGAAATAAAGTAAGAAAAACATTCGTTGGCACCCCATGTTGGATGGCTCCTGAAGTCATGGAA
CAGGTGAGAGGCTATGACTTCAAGGCTGACATGTGGAGTTTTGGAATAACTGCCATTGAATTAGCAACAGGAGCAGCGCCTTATCACAAATATCCTCCCATGAAA
GTGTTAATGTTGACTTTGCAAAATGATCCACCCACTTTGGAAACAGGGGTAGAGGATAAAGAAATGATGAAAAAGTACGGCAAGTCCTTTAGAAAATTACTTTCA
CTGTGTCTTCAGAAAGATCCTTCCAAAAGGCCCACAGCAGCAGAACTTTTAAAATGCAAATTCTTCCAGAAAGCCAAGAACAGAGAGTACCTGATTGAGAAGCTG
CTTACAAGAACACCAGACATAGCCCAAAGAGCCAAAAAGGTAAGAAGAGTTCCTGGGTCAAGTGGTCACCTTCATAAAACCGAAGACGGGGACTGGGAGTGGAGT
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>STK39|27347|protein
MAEPSGSPVHVQLPQQAAPVTAAAAAAPAAATAAPAPAAPAAPAPAPAPAAQAVGWPICRDAYELQEVIGSGATAVVQAALCKPRQERVAIKRINLEKCQTSMDE
LLKEIQAMSQCSHPNVVTYYTSFVVKDELWLVMKLLSGGSMLDIIKYIVNRGEHKNGVLEEAIIATILKEVLEGLDYLHRNGQIHRDLKAGNILLGEDGSVQIAD
FGVSAFLATGGDVTRNKVRKTFVGTPCWMAPEVMEQVRGYDFKADMWSFGITAIELATGAAPYHKYPPMKVLMLTLQNDPPTLETGVEDKEMMKKYGKSFRKLLS
LCLQKDPSKRPTAAELLKCKFFQKAKNREYLIEKLLTRTPDIAQRAKKVRRVPGSSGHLHKTEDGDWEWSDDEMDEKSEEGKAAFSQEKSRRVKEENPEIAVSAS
TIPEQIQSLSVHDSQGPPNANEDYREASSCAVNLVLRLRNSRKELNDIRFEFTPGRDTADGVSQELFSAGLVDGHDVVIVAANLQKIVDDPKALKTLTFKLASGC
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MAEPSGSPVHVQLPQQAAPVTAAAAAAPAAATAAPAPAAPAAPAPAPAPAAQAVGWPICRDAYELQEVIGSGATAVVQAALCKPRQERVAIKRINLEKCQTSMDE
LLKEIQAMSQCSHPNVVTYYTSFVVKDELWLVMKLLSGGSMLDIIKYIVNRGEHKNGVLEEAIIATILKEVLEGLDYLHRNGQIHRDLKAGNILLGEDGSVQIAD
FGVSAFLATGGDVTRNKVRKTFVGTPCWMAPEVMEQVRGYDFKADMWSFGITAIELATGAAPYHKYPPMKVLMLTLQNDPPTLETGVEDKEMMKKYGKSFRKLLS
LCLQKDPSKRPTAAELLKCKFFQKAKNREYLIEKLLTRTPDIAQRAKKVRRVPGSSGHLHKTEDGDWEWSDDEMDEKSEEGKAAFSQEKSRRVKEENPEIAVSAS
TIPEQIQSLSVHDSQGPPNANEDYREASSCAVNLVLRLRNSRKELNDIRFEFTPGRDTADGVSQELFSAGLVDGHDVVIVAANLQKIVDDPKALKTLTFKLASGC
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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) | 0 (0) | 0 (0) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 3 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 1
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Ramoz, 2008_1 | USA, AGRE | - | 334 | 610 (21.64%) |  |  | AD | - - |
- - | |
Case Control Based Association Studies: 0
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | |||||||||||
Large Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gregg, 2008_2 | mixed | lymphoblastoid cell lines | 17 (11.76%) | | | autism with early onset | autism | 12 (25.00%) |
1.824 | Up | 0.0319 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS 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.