Evidence Details for KLHL8
Basic Information Top
| Gene Symbol: | KLHL8 ( FLJ46304,KIAA1378 ) |
|---|---|
| Gene Full Name: | kelch-like 8 (Drosophila) |
| Band: | 4q22.1 |
| Quick Links | Entrez ID:57563; OMIM: 611967; Uniprot ID:KLHL8_HUMAN; ENSEMBL ID: ENSG00000145332; HGNC ID: 18644 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>KLHL8|57563|nucleotide
ATGGCTTCAGATTCTATGAGTAGTAAACAAGCTAGGAATCACATTACAAAGGGGAAAAGGCAACAACAGCACCAGCAAATAAAGAACAGATCCTCAATTAGTGAT
GGTGATGGAGAAGATTCCTTTATTTTTGAAGCAAATGAAGCTTGGAAAGATTTTCATGGTTCTCTTCTTCGATTTTATGAAAATGGAGAACTCTGTGATGTCACA
CTCAAGGTTGGCTCAAAGCTAATCTCTTGTCACAAGCTGGTATTGGCTTGTGTTATTCCCTACTTTAGAGCCATGTTTCTTTCTGAAATGGCTGAAGCCAAGCAA
ACGCTGATTGAGATTAGAGATTTTGATGGTGATGCAATAGAAGACTTGGTAAAGTTTGTCTATTCTTCACGGCTCACTTTGACTGTTGACAATGTCCAGCCTCTC
TTATATGCAGCCTGTATTCTGCAGGTTGAACTGGTGGCTAGAGCTTGTTGTGAATACATGAAGTTACATTTTCATCCCTCCAATTGCCTGGCAGTAAGAGCCTTT
GCAGAAAGTCACAATCGAATAGACTTAATGGACATGGCGGATCAGTATGCCTGTGACCATTTTACTGAAGTAGTGGAGTGTGAAGACTTTGTAAGTGTATCACCG
CAGCACCTCCATAAGCTTTTGTCCTCCAGTGATCTAAATATTGAAAATGAAAAGCAGGTCTATAATGCTGCCATCAAGTGGCTTCTTGCCAATCCTCAGCATCAT
TCCAAATGGTTGGATGAAACACTTGCACAGGTTCGCCTGCCATTGTTGCCGGTTGATTTTCTTATGGGTGTTGTGGCAAAAGAACAGATTGTCAAGCAAAATCTA
AAATGTAGAGATTTACTGGATGAAGCAAGAAATTACCACCTTCACTTGAGTAGCAGAGCAGTACCTGACTTTGAATACTCCATTCGGACTACCCCAAGGAAGCAT
ACTGCTGGTGTGCTGTTTTGTGTAGGTGGTCGAGGTGGATCTGGTGACCCCTTTCGCAGTATTGAATGCTATTCTATCAACAAAAACAGTTGGTTCTTTGGACCA
GAAATGAATAGTCGAAGGCGACATGTGGGTGTAATCTCTGTGGAAGGTAAAGTGTATGCAGTAGGTGGACATGATGGAAATGAACATTTAGGGAGTATGGAGATG
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ATGGCTTCAGATTCTATGAGTAGTAAACAAGCTAGGAATCACATTACAAAGGGGAAAAGGCAACAACAGCACCAGCAAATAAAGAACAGATCCTCAATTAGTGAT
GGTGATGGAGAAGATTCCTTTATTTTTGAAGCAAATGAAGCTTGGAAAGATTTTCATGGTTCTCTTCTTCGATTTTATGAAAATGGAGAACTCTGTGATGTCACA
CTCAAGGTTGGCTCAAAGCTAATCTCTTGTCACAAGCTGGTATTGGCTTGTGTTATTCCCTACTTTAGAGCCATGTTTCTTTCTGAAATGGCTGAAGCCAAGCAA
ACGCTGATTGAGATTAGAGATTTTGATGGTGATGCAATAGAAGACTTGGTAAAGTTTGTCTATTCTTCACGGCTCACTTTGACTGTTGACAATGTCCAGCCTCTC
TTATATGCAGCCTGTATTCTGCAGGTTGAACTGGTGGCTAGAGCTTGTTGTGAATACATGAAGTTACATTTTCATCCCTCCAATTGCCTGGCAGTAAGAGCCTTT
GCAGAAAGTCACAATCGAATAGACTTAATGGACATGGCGGATCAGTATGCCTGTGACCATTTTACTGAAGTAGTGGAGTGTGAAGACTTTGTAAGTGTATCACCG
CAGCACCTCCATAAGCTTTTGTCCTCCAGTGATCTAAATATTGAAAATGAAAAGCAGGTCTATAATGCTGCCATCAAGTGGCTTCTTGCCAATCCTCAGCATCAT
TCCAAATGGTTGGATGAAACACTTGCACAGGTTCGCCTGCCATTGTTGCCGGTTGATTTTCTTATGGGTGTTGTGGCAAAAGAACAGATTGTCAAGCAAAATCTA
AAATGTAGAGATTTACTGGATGAAGCAAGAAATTACCACCTTCACTTGAGTAGCAGAGCAGTACCTGACTTTGAATACTCCATTCGGACTACCCCAAGGAAGCAT
ACTGCTGGTGTGCTGTTTTGTGTAGGTGGTCGAGGTGGATCTGGTGACCCCTTTCGCAGTATTGAATGCTATTCTATCAACAAAAACAGTTGGTTCTTTGGACCA
GAAATGAATAGTCGAAGGCGACATGTGGGTGTAATCTCTGTGGAAGGTAAAGTGTATGCAGTAGGTGGACATGATGGAAATGAACATTTAGGGAGTATGGAGATG
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>KLHL8|57563|protein
MASDSMSSKQARNHITKGKRQQQHQQIKNRSSISDGDGEDSFIFEANEAWKDFHGSLLRFYENGELCDVTLKVGSKLISCHKLVLACVIPYFRAMFLSEMAEAKQ
TLIEIRDFDGDAIEDLVKFVYSSRLTLTVDNVQPLLYAACILQVELVARACCEYMKLHFHPSNCLAVRAFAESHNRIDLMDMADQYACDHFTEVVECEDFVSVSP
QHLHKLLSSSDLNIENEKQVYNAAIKWLLANPQHHSKWLDETLAQVRLPLLPVDFLMGVVAKEQIVKQNLKCRDLLDEARNYHLHLSSRAVPDFEYSIRTTPRKH
TAGVLFCVGGRGGSGDPFRSIECYSINKNSWFFGPEMNSRRRHVGVISVEGKVYAVGGHDGNEHLGSMEMFDPLTNKWMMKASMNTKRRGIALASLGGPIYAIGG
LDDNTCFNDVERYDIESDQWSTVAPMNTPRGGVGSVALVNHVYAVGGNDGMASLSSVERYDPHLDKWIEVKEMGQRRAGNGVSKLHGCLYVVGGFDDNSPLSSVE
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MASDSMSSKQARNHITKGKRQQQHQQIKNRSSISDGDGEDSFIFEANEAWKDFHGSLLRFYENGELCDVTLKVGSKLISCHKLVLACVIPYFRAMFLSEMAEAKQ
TLIEIRDFDGDAIEDLVKFVYSSRLTLTVDNVQPLLYAACILQVELVARACCEYMKLHFHPSNCLAVRAFAESHNRIDLMDMADQYACDHFTEVVECEDFVSVSP
QHLHKLLSSSDLNIENEKQVYNAAIKWLLANPQHHSKWLDETLAQVRLPLLPVDFLMGVVAKEQIVKQNLKCRDLLDEARNYHLHLSSRAVPDFEYSIRTTPRKH
TAGVLFCVGGRGGSGDPFRSIECYSINKNSWFFGPEMNSRRRHVGVISVEGKVYAVGGHDGNEHLGSMEMFDPLTNKWMMKASMNTKRRGIALASLGGPIYAIGG
LDDNTCFNDVERYDIESDQWSTVAPMNTPRGGVGSVALVNHVYAVGGNDGMASLSSVERYDPHLDKWIEVKEMGQRRAGNGVSKLHGCLYVVGGFDDNSPLSSVE
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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) | 0 (1) | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 3 (5) |
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 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Yonan, 2003 | USA | microsatellite-based genomic screen | | | PDD | 345 | - | 345 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge 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 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | | | - | autism | 16 (6.25%) |
0.971532 | Down | 51.8393 | |
| ||||||||||||
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| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Toma C, 2014 | - | Illumina HiSeq 2000 | - | - | ASD | 10 | - | - | 21 | - |
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.