Evidence Details for KLHL36
Basic Information Top
| Gene Symbol: | KLHL36 ( C16orf44,FLJ12543 ) |
|---|---|
| Gene Full Name: | kelch-like 36 (Drosophila) |
| Band: | 16q24.1 |
| Quick Links | Entrez ID:79786; OMIM: NA; Uniprot ID:KLH36_HUMAN; ENSEMBL ID: ENSG00000135686; HGNC ID: 17844 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>KLHL36|79786|nucleotide
ATGATGGAGGGAAGCAGGCAGACGCGAGTGTCTCGGCCATACAAGATCAGCGAATCATCAAAGGTATACCGCTGGGCCGACCACTCAAGCACGGTGCTGCAGCGG
CTGAACGAGCAGCGTCTCCGCGGGCTCTTCTGCGACGTCGTCCTGGTGGCCGATGAGCAGCGTGTGCCAGCCCATCGCAACCTGCTGGCCGTGTGCAGCGACTAC
TTCAACTCCATGTTCACCATCGGCATGCGGGAAGCTTTCCAGAAGGAGGTGGAGCTGATCGGCGCCTCCTACATTGGGCTCAAGGCCGTGGTGGACTTCCTGTAC
GGCGGGGAGCTGGTGCTGGATGGCGGCAACATTGACTACGTCCTGGAGACGGCTCACCTGCTGCAGATCTGGACGGTGGTAGACTTCTGCTGTGAGTACCTGGAG
CAGGAGGTGAGCGAGGACAACTACCTGTACCTGCAGGAGCTGGCCTCCATCTACAGCCTCAAGCGGCTTGATGCCTTCATCGATGGCTTCATCCTGAACCACTTC
GGCACGCTGTCCTTTACGCCCGACTTCCTGCAGAACGTCTCCATGCAGAAGCTGTGTGTCTACCTGAGCAGCAGCGAGGTGCAGCGGGAGTGTGAGCACGACCTC
TTGCAGGCCGCCCTGCAGTGGCTGACGCAGCAGCCCGAGCGCGAGGCCCACGCCCGCCAGGTGCTGGAGAACATCCACTTCCCGCTCATCCCCAAGAACGACCTG
CTGCACCGCGTCAAGCCGGCCGTGTGCTCGCTGCTGCCCAAGGAGGCCAACTGCGAGGGCTTCATCGAGGAGGCCGTGCGCTACCACAACAACCTGGCGGCCCAG
CCCGTCATGCAGACCAAGCGCACGGCGCTGCGCACCAACCAGGAGCGCCTGCTGTTTGTGGGCGGCGAGGTCTCCGAGCGGTGTCTGGAGCTCAGTGACGACACC
TGCTACCTGGACGCCAAGAGCGAGCAGTGGGTCAAAGAGACGCCGCTGCCCGCCCGGCGGAGCCACCACTGTGTCGCGGTGCTGGGGGGCTTCATCTTCATCGCC
GGCGGCAGCTTCTCACGGGACAACGGAGGGGATGCGGCCTCCAATCTTCTTTATAGGTATGACCCCCGCTGTAAACAGTGGATCAAGGTGGCCTCCATGAACCAG
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ATGATGGAGGGAAGCAGGCAGACGCGAGTGTCTCGGCCATACAAGATCAGCGAATCATCAAAGGTATACCGCTGGGCCGACCACTCAAGCACGGTGCTGCAGCGG
CTGAACGAGCAGCGTCTCCGCGGGCTCTTCTGCGACGTCGTCCTGGTGGCCGATGAGCAGCGTGTGCCAGCCCATCGCAACCTGCTGGCCGTGTGCAGCGACTAC
TTCAACTCCATGTTCACCATCGGCATGCGGGAAGCTTTCCAGAAGGAGGTGGAGCTGATCGGCGCCTCCTACATTGGGCTCAAGGCCGTGGTGGACTTCCTGTAC
GGCGGGGAGCTGGTGCTGGATGGCGGCAACATTGACTACGTCCTGGAGACGGCTCACCTGCTGCAGATCTGGACGGTGGTAGACTTCTGCTGTGAGTACCTGGAG
CAGGAGGTGAGCGAGGACAACTACCTGTACCTGCAGGAGCTGGCCTCCATCTACAGCCTCAAGCGGCTTGATGCCTTCATCGATGGCTTCATCCTGAACCACTTC
GGCACGCTGTCCTTTACGCCCGACTTCCTGCAGAACGTCTCCATGCAGAAGCTGTGTGTCTACCTGAGCAGCAGCGAGGTGCAGCGGGAGTGTGAGCACGACCTC
TTGCAGGCCGCCCTGCAGTGGCTGACGCAGCAGCCCGAGCGCGAGGCCCACGCCCGCCAGGTGCTGGAGAACATCCACTTCCCGCTCATCCCCAAGAACGACCTG
CTGCACCGCGTCAAGCCGGCCGTGTGCTCGCTGCTGCCCAAGGAGGCCAACTGCGAGGGCTTCATCGAGGAGGCCGTGCGCTACCACAACAACCTGGCGGCCCAG
CCCGTCATGCAGACCAAGCGCACGGCGCTGCGCACCAACCAGGAGCGCCTGCTGTTTGTGGGCGGCGAGGTCTCCGAGCGGTGTCTGGAGCTCAGTGACGACACC
TGCTACCTGGACGCCAAGAGCGAGCAGTGGGTCAAAGAGACGCCGCTGCCCGCCCGGCGGAGCCACCACTGTGTCGCGGTGCTGGGGGGCTTCATCTTCATCGCC
GGCGGCAGCTTCTCACGGGACAACGGAGGGGATGCGGCCTCCAATCTTCTTTATAGGTATGACCCCCGCTGTAAACAGTGGATCAAGGTGGCCTCCATGAACCAG
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>KLHL36|79786|protein
MMEGSRQTRVSRPYKISESSKVYRWADHSSTVLQRLNEQRLRGLFCDVVLVADEQRVPAHRNLLAVCSDYFNSMFTIGMREAFQKEVELIGASYIGLKAVVDFLY
GGELVLDGGNIDYVLETAHLLQIWTVVDFCCEYLEQEVSEDNYLYLQELASIYSLKRLDAFIDGFILNHFGTLSFTPDFLQNVSMQKLCVYLSSSEVQRECEHDL
LQAALQWLTQQPEREAHARQVLENIHFPLIPKNDLLHRVKPAVCSLLPKEANCEGFIEEAVRYHNNLAAQPVMQTKRTALRTNQERLLFVGGEVSERCLELSDDT
CYLDAKSEQWVKETPLPARRSHHCVAVLGGFIFIAGGSFSRDNGGDAASNLLYRYDPRCKQWIKVASMNQRRVDFYLASIEDMLVAIGGRNENGALSSVETYSPK
TDSWSYVAGLPRFTYGHAGTIYKDFVYISGGHDYQIGPYRKNLLCYDHRTDVWEERRPMTTARGWHSMCSLGDSIYSIGGSDDNIESMERFDVLGVEAYSPQCNQ
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MMEGSRQTRVSRPYKISESSKVYRWADHSSTVLQRLNEQRLRGLFCDVVLVADEQRVPAHRNLLAVCSDYFNSMFTIGMREAFQKEVELIGASYIGLKAVVDFLY
GGELVLDGGNIDYVLETAHLLQIWTVVDFCCEYLEQEVSEDNYLYLQELASIYSLKRLDAFIDGFILNHFGTLSFTPDFLQNVSMQKLCVYLSSSEVQRECEHDL
LQAALQWLTQQPEREAHARQVLENIHFPLIPKNDLLHRVKPAVCSLLPKEANCEGFIEEAVRYHNNLAAQPVMQTKRTALRTNQERLLFVGGEVSERCLELSDDT
CYLDAKSEQWVKETPLPARRSHHCVAVLGGFIFIAGGSFSRDNGGDAASNLLYRYDPRCKQWIKVASMNQRRVDFYLASIEDMLVAIGGRNENGALSSVETYSPK
TDSWSYVAGLPRFTYGHAGTIYKDFVYISGGHDYQIGPYRKNLLCYDHRTDVWEERRPMTTARGWHSMCSLGDSIYSIGGSDDNIESMERFDVLGVEAYSPQCNQ
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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 (3) | 0 (0) | 0 (0) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 11 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies TopLow 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 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hu, 2009_1 | mixed | lymphoblastoid cell lines | 21 (-) | |  | autism with nonaffected sib pairs | autism | 17 (-) |
1.25 | Up | - | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
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 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.