Evidence Details for KLHL21
Basic Information Top
| Gene Symbol: | KLHL21 ( KIAA0469,MGC99635 ) |
|---|---|
| Gene Full Name: | kelch-like 21 (Drosophila) |
| Band: | 1p36.31 |
| Quick Links | Entrez ID:9903; OMIM: NA; Uniprot ID:KLH21_HUMAN; ENSEMBL ID: ENSG00000162413; HGNC ID: 29041 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>KLHL21|9903|nucleotide
ATGGAGCGACCGGCGCCCCTGGCCGTGCTTCCCTTCTCGGACCCCGCGCACGCCCTGAGCCTGCTGCGCGGCCTGAGCCAGCTGCGCGCCGAGCGCAAGTTCCTG
GACGTGACCCTGGAGGCGGCGGGCGGGCGCGACTTCCCGGCGCACCGTGCGGTGCTGGCCGCCGCCAGCCCCTACTTCCGCGCCATGTTCGCGGGGCAGCTGCGC
GAGAGCCGCGCCGAGCGGGTGCGCCTGCACGGAGTGCCTCCCGACATGCTGCAGCTGCTGCTGGACTTCAGCTACACGGGCCGCGTGGCGGTAAGCGGCGACAAC
GCTGAGCCGCTGCTGCGCGCCGCCGACCTGCTGCAGTTCCCGGCCGTGAAGGAGGCGTGCGGGGCCTTCCTGCAGCAGCAGCTCGACCTGGCCAACTGCCTGGAC
ATGCAGGACTTCGCTGAGGCCTTCAGCTGCTCGGGACTGGCGAGCGCGGCGCAGCGGTTCATTCTGCGCCACGTGGGCGAGCTGGGCGCCGAGCAGCTGGAGCGG
CTGCCACTGGCGCGCCTGCTGCGCTACCTGCGGGACGACGGGCTGTGTGTGCCCAAGGAGGAGGCCGCCTACCAGCTGGCGCTGCGCTGGGTCCGCGCTGACCCG
CCGCGCCGCGCCGCGCACTGGCCGCAGCTGCTGGAGGCCGTGCGCCTGCCCTTCGTGCGCCGCTTCTACCTGTTGGCGCACGTCGAGGCCGAGCCGCTGGTGGCG
CGCTGCCCACCCTGCCTGCGCCTGCTGCGCGAGGCGCGCGACTTCCAGGCGGCGCGCTACGACCGCCACGACCGCGGGCCCTGTCCCCGAATGCGTCCTCGCCCG
TCCACCGGTCTCGCCGAGATCCTCGTGCTCGTGGGCGGCTGCGACCAGGACTGTGACGAGCTGGTCACTGTCGACTGCTACAACCCGCAGACGGGTCAGTGGCGC
TACCTGGCCGAGTTCCCAGACCACCTGGGCGGAGGCTACAGCATCGTGGCGCTGGGCAATGACATCTACGTGACGGGTGGGTCTGATGGCTCCCGGCTCTATGAC
TGCGTGTGGAGGTACAACTCAAGCGTGAATGAGTGGGCGGAGGTGGCGCCCATGCTGAAGGCCCGCGAGTACCACAGCTCCTCTGTGCTGGACGGACTGCTGTAC
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ATGGAGCGACCGGCGCCCCTGGCCGTGCTTCCCTTCTCGGACCCCGCGCACGCCCTGAGCCTGCTGCGCGGCCTGAGCCAGCTGCGCGCCGAGCGCAAGTTCCTG
GACGTGACCCTGGAGGCGGCGGGCGGGCGCGACTTCCCGGCGCACCGTGCGGTGCTGGCCGCCGCCAGCCCCTACTTCCGCGCCATGTTCGCGGGGCAGCTGCGC
GAGAGCCGCGCCGAGCGGGTGCGCCTGCACGGAGTGCCTCCCGACATGCTGCAGCTGCTGCTGGACTTCAGCTACACGGGCCGCGTGGCGGTAAGCGGCGACAAC
GCTGAGCCGCTGCTGCGCGCCGCCGACCTGCTGCAGTTCCCGGCCGTGAAGGAGGCGTGCGGGGCCTTCCTGCAGCAGCAGCTCGACCTGGCCAACTGCCTGGAC
ATGCAGGACTTCGCTGAGGCCTTCAGCTGCTCGGGACTGGCGAGCGCGGCGCAGCGGTTCATTCTGCGCCACGTGGGCGAGCTGGGCGCCGAGCAGCTGGAGCGG
CTGCCACTGGCGCGCCTGCTGCGCTACCTGCGGGACGACGGGCTGTGTGTGCCCAAGGAGGAGGCCGCCTACCAGCTGGCGCTGCGCTGGGTCCGCGCTGACCCG
CCGCGCCGCGCCGCGCACTGGCCGCAGCTGCTGGAGGCCGTGCGCCTGCCCTTCGTGCGCCGCTTCTACCTGTTGGCGCACGTCGAGGCCGAGCCGCTGGTGGCG
CGCTGCCCACCCTGCCTGCGCCTGCTGCGCGAGGCGCGCGACTTCCAGGCGGCGCGCTACGACCGCCACGACCGCGGGCCCTGTCCCCGAATGCGTCCTCGCCCG
TCCACCGGTCTCGCCGAGATCCTCGTGCTCGTGGGCGGCTGCGACCAGGACTGTGACGAGCTGGTCACTGTCGACTGCTACAACCCGCAGACGGGTCAGTGGCGC
TACCTGGCCGAGTTCCCAGACCACCTGGGCGGAGGCTACAGCATCGTGGCGCTGGGCAATGACATCTACGTGACGGGTGGGTCTGATGGCTCCCGGCTCTATGAC
TGCGTGTGGAGGTACAACTCAAGCGTGAATGAGTGGGCGGAGGTGGCGCCCATGCTGAAGGCCCGCGAGTACCACAGCTCCTCTGTGCTGGACGGACTGCTGTAC
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>KLHL21|9903|protein
MERPAPLAVLPFSDPAHALSLLRGLSQLRAERKFLDVTLEAAGGRDFPAHRAVLAAASPYFRAMFAGQLRESRAERVRLHGVPPDMLQLLLDFSYTGRVAVSGDN
AEPLLRAADLLQFPAVKEACGAFLQQQLDLANCLDMQDFAEAFSCSGLASAAQRFILRHVGELGAEQLERLPLARLLRYLRDDGLCVPKEEAAYQLALRWVRADP
PRRAAHWPQLLEAVRLPFVRRFYLLAHVEAEPLVARCPPCLRLLREARDFQAARYDRHDRGPCPRMRPRPSTGLAEILVLVGGCDQDCDELVTVDCYNPQTGQWR
YLAEFPDHLGGGYSIVALGNDIYVTGGSDGSRLYDCVWRYNSSVNEWAEVAPMLKAREYHSSSVLDGLLYVVAADSTERYDHTTDSWEALQPMTYPMDNCSTTAC
RGRLYAIGSLAGKETMVMQCYDPDTDLWSLVDCGQLPPWSFAPKTATLNGLMYFVRDDSAEVDVYNPTRNEWDKIPSMNQVHVGGSLAVLGGKLYVSGGYDNTFE
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MERPAPLAVLPFSDPAHALSLLRGLSQLRAERKFLDVTLEAAGGRDFPAHRAVLAAASPYFRAMFAGQLRESRAERVRLHGVPPDMLQLLLDFSYTGRVAVSGDN
AEPLLRAADLLQFPAVKEACGAFLQQQLDLANCLDMQDFAEAFSCSGLASAAQRFILRHVGELGAEQLERLPLARLLRYLRDDGLCVPKEEAAYQLALRWVRADP
PRRAAHWPQLLEAVRLPFVRRFYLLAHVEAEPLVARCPPCLRLLREARDFQAARYDRHDRGPCPRMRPRPSTGLAEILVLVGGCDQDCDELVTVDCYNPQTGQWR
YLAEFPDHLGGGYSIVALGNDIYVTGGSDGSRLYDCVWRYNSSVNEWAEVAPMLKAREYHSSSVLDGLLYVVAADSTERYDHTTDSWEALQPMTYPMDNCSTTAC
RGRLYAIGSLAGKETMVMQCYDPDTDLWSLVDCGQLPPWSFAPKTATLNGLMYFVRDDSAEVDVYNPTRNEWDKIPSMNQVHVGGSLAVLGGKLYVSGGYDNTFE
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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 | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (2) |
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 | |||||||||||
| Ma, 2009_1 | Discovery | Illumina's Human 1M v1 Beadchip | 438 | - (-) |  |  | 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 | ||||||
| Gregory, 2009 | USA | aCGH | | | ASD | - | - | - | - | 119 | 54 | 173 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS 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.