Evidence Details for KLHL23
Basic Information Top
Gene Symbol: | KLHL23 ( DITHP,FLJ37812,MGC22679,MGC2610 ) |
---|---|
Gene Full Name: | kelch-like 23 (Drosophila) |
Band: | 2q31.1 |
Quick Links | Entrez ID:151230; OMIM: NA; Uniprot ID:KLH23_HUMAN; ENSEMBL ID: ENSG00000213160; HGNC ID: 27506 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>KLHL23|151230|nucleotide
ATGGCTCTAAAAGGACAAGAAGATTATATTTATCTTTTCAAGGATTCAACACATCCAGTGGATTTTCTGGATGCATTCAGAACATTTTACTTGGATGGATTATTT
ACTGATATTACTCTTCAGTGTCCTTCAGGCATAATTTTCCATTGTCACCGAGCCGTTTTAGCTGCTTGCAGCAATTATTTTAAGGCAATGTTCACAGCTGACATG
AAAGAAAAATTTAAAAATAAAATAAAACTCTCTGGCATCCACCATGATATTCTGGAAGGCCTTGTAAATTATGCATACACTTCCCAAATTGAAATAACTAAAAGA
AATGTTCAAAGCCTGCTTGAGGCAGCGGATCTGCTACAGTTCCTTTCAGTAAAGAAGGCTTGTGAGCGGTTTTTGGTAAGGCACTTGGATATTGATAATTGTATT
GGAATGCACTCCTTTGCAGAATTTCATGTGTGTCCAGAACTAGAGAAGGAATCTCGAAGAATTCTATGTTCAAAGTTTAAGGAAGTGTGGCAACAAGAAGAATTT
CTGGAAATCAGCCTTGAAAAGTTTCTCTTTATCTTGTCCAGAAAGAATCTCAGTGTTTGGAAAGAAGAAGCTATCATAGAGCCAGTTATTAAGTGGACTGCTCAT
GATGTAGAAAATCGAATTGAATGCCTCTATAATCTACTGAGCTATATCAACATTGATATAGATCCAGTGTACTTAAAAACAGCCTTAGGCCTTCAAAGAAGCTGC
CTGCTCACCGAAAATAAGATCCGCTCCCTAATATACAATGCCTTGAATCCCATGCATAAAGAGATTTCCCAGAGGTCCACAGCCACAATGTATATAATTGGAGGC
TATTACTGGCATCCTTTATCAGAGGTTCACATATGGGATCCTTTGACAAATGTTTGGATTCAGGGAGCAGAAATACCAGATTATACCAGGGAGAGCTATGGTGTT
ACATGTTTAGGACCCAACATTTATGTAACTGGGGGCTACAGGACGGATAACATAGAAGCTCTTGACACAGTGTGGATCTATAACAGTGAAAGTGATGAATGGACA
GAAGGTTTGCCAATGCTCAATGCCAGGTATTACCACTGTGCAGTCACCTTGGGTGGCTGTGTCTATGCTTTAGGTGGTTACAGAAAAGGGGCTCCAGCAGAAGAG
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ATGGCTCTAAAAGGACAAGAAGATTATATTTATCTTTTCAAGGATTCAACACATCCAGTGGATTTTCTGGATGCATTCAGAACATTTTACTTGGATGGATTATTT
ACTGATATTACTCTTCAGTGTCCTTCAGGCATAATTTTCCATTGTCACCGAGCCGTTTTAGCTGCTTGCAGCAATTATTTTAAGGCAATGTTCACAGCTGACATG
AAAGAAAAATTTAAAAATAAAATAAAACTCTCTGGCATCCACCATGATATTCTGGAAGGCCTTGTAAATTATGCATACACTTCCCAAATTGAAATAACTAAAAGA
AATGTTCAAAGCCTGCTTGAGGCAGCGGATCTGCTACAGTTCCTTTCAGTAAAGAAGGCTTGTGAGCGGTTTTTGGTAAGGCACTTGGATATTGATAATTGTATT
GGAATGCACTCCTTTGCAGAATTTCATGTGTGTCCAGAACTAGAGAAGGAATCTCGAAGAATTCTATGTTCAAAGTTTAAGGAAGTGTGGCAACAAGAAGAATTT
CTGGAAATCAGCCTTGAAAAGTTTCTCTTTATCTTGTCCAGAAAGAATCTCAGTGTTTGGAAAGAAGAAGCTATCATAGAGCCAGTTATTAAGTGGACTGCTCAT
GATGTAGAAAATCGAATTGAATGCCTCTATAATCTACTGAGCTATATCAACATTGATATAGATCCAGTGTACTTAAAAACAGCCTTAGGCCTTCAAAGAAGCTGC
CTGCTCACCGAAAATAAGATCCGCTCCCTAATATACAATGCCTTGAATCCCATGCATAAAGAGATTTCCCAGAGGTCCACAGCCACAATGTATATAATTGGAGGC
TATTACTGGCATCCTTTATCAGAGGTTCACATATGGGATCCTTTGACAAATGTTTGGATTCAGGGAGCAGAAATACCAGATTATACCAGGGAGAGCTATGGTGTT
ACATGTTTAGGACCCAACATTTATGTAACTGGGGGCTACAGGACGGATAACATAGAAGCTCTTGACACAGTGTGGATCTATAACAGTGAAAGTGATGAATGGACA
GAAGGTTTGCCAATGCTCAATGCCAGGTATTACCACTGTGCAGTCACCTTGGGTGGCTGTGTCTATGCTTTAGGTGGTTACAGAAAAGGGGCTCCAGCAGAAGAG
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>KLHL23|151230|protein
MALKGQEDYIYLFKDSTHPVDFLDAFRTFYLDGLFTDITLQCPSGIIFHCHRAVLAACSNYFKAMFTADMKEKFKNKIKLSGIHHDILEGLVNYAYTSQIEITKR
NVQSLLEAADLLQFLSVKKACERFLVRHLDIDNCIGMHSFAEFHVCPELEKESRRILCSKFKEVWQQEEFLEISLEKFLFILSRKNLSVWKEEAIIEPVIKWTAH
DVENRIECLYNLLSYINIDIDPVYLKTALGLQRSCLLTENKIRSLIYNALNPMHKEISQRSTATMYIIGGYYWHPLSEVHIWDPLTNVWIQGAEIPDYTRESYGV
TCLGPNIYVTGGYRTDNIEALDTVWIYNSESDEWTEGLPMLNARYYHCAVTLGGCVYALGGYRKGAPAEEAEFYDPLKEKWIPIANMIKGVGNATACVLHDVIYV
IGGHCGYRGSCTYDKVQSYNSDINEWSLITSSPHPEYGLCSVPFENKLYLVGGQTTITECYDPEQNEWREIAPMMERRMECGAVIMNGCIYVTGGYSYSKGTYLQ
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MALKGQEDYIYLFKDSTHPVDFLDAFRTFYLDGLFTDITLQCPSGIIFHCHRAVLAACSNYFKAMFTADMKEKFKNKIKLSGIHHDILEGLVNYAYTSQIEITKR
NVQSLLEAADLLQFLSVKKACERFLVRHLDIDNCIGMHSFAEFHVCPELEKESRRILCSKFKEVWQQEEFLEISLEKFLFILSRKNLSVWKEEAIIEPVIKWTAH
DVENRIECLYNLLSYINIDIDPVYLKTALGLQRSCLLTENKIRSLIYNALNPMHKEISQRSTATMYIIGGYYWHPLSEVHIWDPLTNVWIQGAEIPDYTRESYGV
TCLGPNIYVTGGYRTDNIEALDTVWIYNSESDEWTEGLPMLNARYYHCAVTLGGCVYALGGYRKGAPAEEAEFYDPLKEKWIPIANMIKGVGNATACVLHDVIYV
IGGHCGYRGSCTYDKVQSYNSDINEWSLITSSPHPEYGLCSVPFENKLYLVGGQTTITECYDPEQNEWREIAPMMERRMECGAVIMNGCIYVTGGYSYSKGTYLQ
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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) | 0 (1) | 2 (4) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (5) |
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 | ||||||
Pinto, 2010 | - | SNP microarray, qPCR | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Monaco, 2001 | - | microsatellite-based genomic screen | PDD | 152 | - | 152 | - | - | - | - | ||
Buxbaum, 2001 | USA | microsatellite-based genomic screen | autism, PDD, Asperger syndrome | 35 | - | 35 | - | - | - | - | ||
Lamb, 2005 | - | microsatellite-based genomic screen | autism | 207 | - | 207 | - | 420 | - | - | ||
Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | autism | - | - | - | - | 12 | 44 | 56 |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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