Evidence Details for GK5
Basic Information Top
| Gene Symbol: | GK5 ( FLJ33582,FLJ45739,MGC40579 ) |
|---|---|
| Gene Full Name: | glycerol kinase 5 (putative) |
| Band: | 3q23 |
| Quick Links | Entrez ID:256356; OMIM: NA; Uniprot ID:GLPK5_HUMAN; ENSEMBL ID: ENSG00000175066; HGNC ID: 28635 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>GK5|256356|nucleotide
ATGTCGGGGCTGCTCACGGACCCGGAGCAGAGAGCGCAGGAGCCGCGGTACCCCGGCTTCGTGCTGGGGCTGGATGTGGGCAGTTCTGTGATCCGCTGCCACGTC
TATGACCGGGCGGCGCGGGTCTGCGGCTCCAGCGTGCAGAAGGTAGAAAATCTTTATCCTCAAATTGGCTGGGTAGAAATTGATCCTGATGTTCTTTGGATTCAA
TTTGTTGCCGTAATAAAAGAAGCAGTCAAAGCTGCAGGAATACAGATGAATCAAATTGTTGGTCTTGGCATTTCAACACAGAGAGCAACTTTTATTACGTGGAAC
AAGAAAACAGGAAATCATTTTCACAACTTTATAAGTTGGCAAGACTTAAGAGCTGTTGAACTTGTAAAATCTTGGAATAATTCTCTTCTTATGAAGATATTTCAC
AGTTCTTGCCGAGTGCTTCACTTTTTCACTAGAAGTAAACGACTTTTTACAGCCAGTTTGTTCACTTTCACAACCCAGCAGACTTCTTTGAGATTGGTCTGGATT
TTACAGAACTTGACTGAGGTGCAAAAGGCAGTTGAAGAAGAAAATTGCTGCTTTGGGACTATTGATACCTGGTTGTTATATAAGCTCACAAAAGGTTCTGTATAT
GCCACAGATTTTTCAAATGCTAGTACAACTGGACTTTTTGACCCATATAAGATGTGTTGGAGTGGGATGATTACCTCTCTAATTTCGATACCACTTTCTCTCCTA
CCTCCTGTGAGGGACACAAGCCACAATTTTGGATCAGTGGATGAAGAGATATTTGGTGTGCCTATACCAATAGTTGCCTTGGTTGCTGACCAGCAATCAGCCATG
TTTGGAGAGTGCTGCTTCCAGACAGGTGATGTGAAATTAACCATGGGAACTGGGACATTTTTGGATATTAACACTGGAAATAGCCTTCAACAGACTACTGGAGGC
TTTTATCCATTAATTGGGTGGAAGATTGGGCAAGAAGTCGTATGCTTAGCTGAAAGCAATGCAGGAGACACTGGTACTGCCATAAAATGGGCTCAGCAGTTAGAC
CTTTTCACAGATGCTGCTGAGACTGAAAAAATGGCCAAAAGTTTGGAGGATTCTGAAGGAGTTTGTTTTGTTCCATCTTTTAGTGGATTACAGGCTCCATTAAAT
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ATGTCGGGGCTGCTCACGGACCCGGAGCAGAGAGCGCAGGAGCCGCGGTACCCCGGCTTCGTGCTGGGGCTGGATGTGGGCAGTTCTGTGATCCGCTGCCACGTC
TATGACCGGGCGGCGCGGGTCTGCGGCTCCAGCGTGCAGAAGGTAGAAAATCTTTATCCTCAAATTGGCTGGGTAGAAATTGATCCTGATGTTCTTTGGATTCAA
TTTGTTGCCGTAATAAAAGAAGCAGTCAAAGCTGCAGGAATACAGATGAATCAAATTGTTGGTCTTGGCATTTCAACACAGAGAGCAACTTTTATTACGTGGAAC
AAGAAAACAGGAAATCATTTTCACAACTTTATAAGTTGGCAAGACTTAAGAGCTGTTGAACTTGTAAAATCTTGGAATAATTCTCTTCTTATGAAGATATTTCAC
AGTTCTTGCCGAGTGCTTCACTTTTTCACTAGAAGTAAACGACTTTTTACAGCCAGTTTGTTCACTTTCACAACCCAGCAGACTTCTTTGAGATTGGTCTGGATT
TTACAGAACTTGACTGAGGTGCAAAAGGCAGTTGAAGAAGAAAATTGCTGCTTTGGGACTATTGATACCTGGTTGTTATATAAGCTCACAAAAGGTTCTGTATAT
GCCACAGATTTTTCAAATGCTAGTACAACTGGACTTTTTGACCCATATAAGATGTGTTGGAGTGGGATGATTACCTCTCTAATTTCGATACCACTTTCTCTCCTA
CCTCCTGTGAGGGACACAAGCCACAATTTTGGATCAGTGGATGAAGAGATATTTGGTGTGCCTATACCAATAGTTGCCTTGGTTGCTGACCAGCAATCAGCCATG
TTTGGAGAGTGCTGCTTCCAGACAGGTGATGTGAAATTAACCATGGGAACTGGGACATTTTTGGATATTAACACTGGAAATAGCCTTCAACAGACTACTGGAGGC
TTTTATCCATTAATTGGGTGGAAGATTGGGCAAGAAGTCGTATGCTTAGCTGAAAGCAATGCAGGAGACACTGGTACTGCCATAAAATGGGCTCAGCAGTTAGAC
CTTTTCACAGATGCTGCTGAGACTGAAAAAATGGCCAAAAGTTTGGAGGATTCTGAAGGAGTTTGTTTTGTTCCATCTTTTAGTGGATTACAGGCTCCATTAAAT
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>GK5|256356|protein
MSGLLTDPEQRAQEPRYPGFVLGLDVGSSVIRCHVYDRAARVCGSSVQKVENLYPQIGWVEIDPDVLWIQFVAVIKEAVKAAGIQMNQIVGLGISTQRATFITWN
KKTGNHFHNFISWQDLRAVELVKSWNNSLLMKIFHSSCRVLHFFTRSKRLFTASLFTFTTQQTSLRLVWILQNLTEVQKAVEEENCCFGTIDTWLLYKLTKGSVY
ATDFSNASTTGLFDPYKMCWSGMITSLISIPLSLLPPVRDTSHNFGSVDEEIFGVPIPIVALVADQQSAMFGECCFQTGDVKLTMGTGTFLDINTGNSLQQTTGG
FYPLIGWKIGQEVVCLAESNAGDTGTAIKWAQQLDLFTDAAETEKMAKSLEDSEGVCFVPSFSGLQAPLNDPWACASFMGLKPSTSKYHLVRAILESIAFRNKQL
YEMMKKEIHIPVRKIRADGGVCKNGFVMQMTSDLINENIDRPADIDMSCLGAASLAGLAVGFWTDKEELKKLRQSEVVFKPQKKCQEYEMSLENWAKAVKRSMNW
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MSGLLTDPEQRAQEPRYPGFVLGLDVGSSVIRCHVYDRAARVCGSSVQKVENLYPQIGWVEIDPDVLWIQFVAVIKEAVKAAGIQMNQIVGLGISTQRATFITWN
KKTGNHFHNFISWQDLRAVELVKSWNNSLLMKIFHSSCRVLHFFTRSKRLFTASLFTFTTQQTSLRLVWILQNLTEVQKAVEEENCCFGTIDTWLLYKLTKGSVY
ATDFSNASTTGLFDPYKMCWSGMITSLISIPLSLLPPVRDTSHNFGSVDEEIFGVPIPIVALVADQQSAMFGECCFQTGDVKLTMGTGTFLDINTGNSLQQTTGG
FYPLIGWKIGQEVVCLAESNAGDTGTAIKWAQQLDLFTDAAETEKMAKSLEDSEGVCFVPSFSGLQAPLNDPWACASFMGLKPSTSKYHLVRAILESIAFRNKQL
YEMMKKEIHIPVRKIRADGGVCKNGFVMQMTSDLINENIDRPADIDMSCLGAASLAGLAVGFWTDKEELKKLRQSEVVFKPQKKCQEYEMSLENWAKAVKRSMNW
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Evidence summary Top
Click 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) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 12 (3) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Zwaag, 2009 | - | SNP microarray | ![]() | ![]() | autism | - | - | - | - | 105 | 267 | 372 |
| Pinto, 2010 | - | SNP microarray, qPCR | ![]() | ![]() | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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