AutismKB 2.0

Evidence Details for KLHL25


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Basic Information Top
Gene Symbol:KLHL25 ( ENC-2,ENC2,FLJ12587,FLJ45015 )
Gene Full Name: kelch-like 25 (Drosophila)
Band: 15q25.3
Quick LinksEntrez ID:64410; OMIM: NA; Uniprot ID:ENC2_HUMAN; ENSEMBL ID: ENSG00000183655; HGNC ID: 25732
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KLHL25|64410|nucleotide
ATGTCGGTCAGTGTCCATGAGACCCGCAAGTCGCGGAGCAGCACGGGGTCCATGAACGTCACCCTCTTCCACAAGGCCTCCCACCCGGACTGTGTGCTGGCCCAC
CTCAACACGCTTCGCAAGCACTGCATGTTCACCGACGTCACACTCTGGGCGGGCGACCGTGCCTTCCCCTGTCACCGTGCCGTGCTGGCCGCCTCTAGCCGCTAT
TTTGAGGCCATGTTCAGCCATGGCCTTCGGGAGAGCCGGGATGACACTGTCAACTTCCAGGACAACCTGCACCCGGAGGTGCTGGAGCTGCTGCTGGACTTTGCC
TACTCCTCACGCATCGCCATCAACGAGGAGAACGCTGAGTCACTGCTGGAGGCAGGCGACATGCTGCAGTTCCACGATGTGCGGGATGCTGCCGCCGAGTTCCTG
GAGAAGAACCTTTTCCCCTCCAACTGCCTGGGCATGATGCTGCTCTCGGACGCCCACCAGTGCCGCCGGCTGTATGAGTTCTCCTGGCGCATGTGCCTGGTGCAC
TTTGAGACGGTGAGGCAGAGCGAGGACTTCAACAGCCTGTCCAAGGACACACTGCTGGACCTCATCTCGAGTGATGAGCTGGAGACCGAGGACGAGCGGGTGGTC
TTCGAGGCCATCCTCCAGTGGGTGAAGCACGACCTGGAGCCACGGAAGGTCCACTTGCCCGAGCTCCTCCGCAGCGTGCGTCTGGCCTTGCTGCCGTCCGACTGC
CTGCAGGAGGCCGTCTCCAGCGAGGCCCTCCTCATGGCAGACGAGCGCACCAAGCTTATCATGGATGAGGCCCTGCGCTGCAAGACCAGGATCCTGCAGAATGAT
GGCGTGGTCACCAGCCCCTGTGCCCGGCCACGCAAGGCGGGCCACACGCTACTCATCCTGGGGGGCCAGACCTTCATGTGTGACAAGATCTACCAGGTGGACCAC
AAGGCCAAGGAGATCATCCCCAAGGCCGACCTGCCCAGCCCCCGGAAGGAGTTCAGCGCCTCAGCGATCGGCTGCAAGGTCTATGTGACGGGGGGCAGGGGCTCC
GAGAACGGGGTCTCCAAGGATGTCTGGGTGTACGACACCGTACATGAGGAATGGTCCAAGGCGGCGCCCATGCTGATTGCCCGCTTTGGCCATGGCTCAGCTGAG
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>KLHL25|64410|protein
MSVSVHETRKSRSSTGSMNVTLFHKASHPDCVLAHLNTLRKHCMFTDVTLWAGDRAFPCHRAVLAASSRYFEAMFSHGLRESRDDTVNFQDNLHPEVLELLLDFA
YSSRIAINEENAESLLEAGDMLQFHDVRDAAAEFLEKNLFPSNCLGMMLLSDAHQCRRLYEFSWRMCLVHFETVRQSEDFNSLSKDTLLDLISSDELETEDERVV
FEAILQWVKHDLEPRKVHLPELLRSVRLALLPSDCLQEAVSSEALLMADERTKLIMDEALRCKTRILQNDGVVTSPCARPRKAGHTLLILGGQTFMCDKIYQVDH
KAKEIIPKADLPSPRKEFSASAIGCKVYVTGGRGSENGVSKDVWVYDTVHEEWSKAAPMLIARFGHGSAELENCLYVVGGHTSLAGVFPASPSVSLKQVEKYDPG
ANKWMMVAPLRDGVSNAAVVSAKLKLFVFGGTSIHRDMVSKVQCYDPSENRWTIKAECPQPWRYTAAAVLGSQIFIMGGDTEFTAASAYRFDCETNQWTRIGDMT
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Evidence summary Top

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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) 1 (1) 0 (0) 0 (0) 13 (4)
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
Bonati, 2005 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top