Evidence Details for SKI
Basic Information Top
| Gene Symbol: | SKI ( SKV ) |
|---|---|
| Gene Full Name: | v-ski sarcoma viral oncogene homolog (avian) |
| Band: | 1p36.33-p36.32 |
| Quick Links | Entrez ID:6497; OMIM: 164780; Uniprot ID:SKI_HUMAN; ENSEMBL ID: ENSG00000157933; HGNC ID: 10896 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SKI|6497|nucleotide
ATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGGCCCG
GCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCG
CCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTG
GAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAAC
GCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGG
CTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGC
CTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATC
CAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAAC
TGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAAC
AAGTACAAGCGGCGGGTGCCCCGGGTCTCCTCTGAGCCTCCGGCCTCCATAAGACCCAAAACAGATGACACCTCTTCCCAGTCCCCCGCGCCTTCCGAAAAGGAC
AAGCCGTCCAGCTGGCTGCGGACCTTGGCCGGCTCTTCCAATAAGAGCCTGGGCTGTGTTCACCCTCGCCAGCGCCTCTCTGCTTTCCGACCCTGGTCCCCCGCA
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ATGGAGGCGGCGGCAGGCGGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGGCCCG
GCCGCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCAGCCACCGAGCCG
CCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGCTCCACCGAGCGCTGCGAGACCGTACTG
GAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATTCTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAAC
GCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGG
CTCATCACCAAGACGGACGCCGAGCGCCTGTGCAACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGC
CTGGAGCTCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATC
CAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAAC
TGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGACGTGAAGGAGAAATTCGACTATGGCAAC
AAGTACAAGCGGCGGGTGCCCCGGGTCTCCTCTGAGCCTCCGGCCTCCATAAGACCCAAAACAGATGACACCTCTTCCCAGTCCCCCGCGCCTTCCGAAAAGGAC
AAGCCGTCCAGCTGGCTGCGGACCTTGGCCGGCTCTTCCAATAAGAGCCTGGGCTGTGTTCACCCTCGCCAGCGCCTCTCTGCTTTCCGACCCTGGTCCCCCGCA
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>SKI|6497|protein
MEAAAGGRGCFQPHPGLQKTLEQFHLSSMSSLGGPAAFSARWAQEAYKKESAKEAGAAAVPAPVPAATEPPPVLHLPAIQPPPPVLPGPFFMPSDRSTERCETVL
EGETISCFVVGGEKRLCLPQILNSVLRDFSLQQINAVCDELHIYCSRCTADQLEILKVMGILPFSAPSCGLITKTDAERLCNALLYGGAYPPPCKKELAASLALG
LELSERSVRVYHECFGKCKGLLVPELYSSPSAACIQCLDCRLMYPPHKFVVHSHKALENRTCHWGFDSANWRAYILLSQDYTGKEEQARLGRCLDDVKEKFDYGN
KYKRRVPRVSSEPPASIRPKTDDTSSQSPAPSEKDKPSSWLRTLAGSSNKSLGCVHPRQRLSAFRPWSPAVSASEKELSPHLPALIRDSFYSYKSFETAVAPNVA
LAPPAQQKVVSSPPCAAAVSRAPEPLATCTQPRKRKLTVDTPGAPETLAPVAAPEEDKDSEAEVEVESREEFTSSLSSLSSPSFTSSSSAKDLGSPGARALPSAV
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MEAAAGGRGCFQPHPGLQKTLEQFHLSSMSSLGGPAAFSARWAQEAYKKESAKEAGAAAVPAPVPAATEPPPVLHLPAIQPPPPVLPGPFFMPSDRSTERCETVL
EGETISCFVVGGEKRLCLPQILNSVLRDFSLQQINAVCDELHIYCSRCTADQLEILKVMGILPFSAPSCGLITKTDAERLCNALLYGGAYPPPCKKELAASLALG
LELSERSVRVYHECFGKCKGLLVPELYSSPSAACIQCLDCRLMYPPHKFVVHSHKALENRTCHWGFDSANWRAYILLSQDYTGKEEQARLGRCLDDVKEKFDYGN
KYKRRVPRVSSEPPASIRPKTDDTSSQSPAPSEKDKPSSWLRTLAGSSNKSLGCVHPRQRLSAFRPWSPAVSASEKELSPHLPALIRDSFYSYKSFETAVAPNVA
LAPPAQQKVVSSPPCAAAVSRAPEPLATCTQPRKRKLTVDTPGAPETLAPVAAPEEDKDSEAEVEVESREEFTSSLSSLSSPSFTSSSSAKDLGSPGARALPSAV
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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 (1) | 1 (5) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (7) |
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 | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Jacquemont, 2006 | France | aCGH | | | ASD | - | - | - | - | 29 | - | 29 |
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
| Gregory, 2009 | USA | aCGH | | | ASD | - | - | - | - | 119 | 54 | 173 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies Top