AutismKB 2.0

Evidence Details for SQLE


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Basic Information Top
Gene Symbol:SQLE ( FLJ30795 )
Gene Full Name: squalene epoxidase
Band: 8q24.13
Quick LinksEntrez ID:6713; OMIM: 602019; Uniprot ID:ERG1_HUMAN; ENSEMBL ID: ENSG00000104549; HGNC ID: 11279
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SQLE|6713|nucleotide
ATGTGGACTTTTCTGGGCATTGCCACTTTCACCTATTTTTATAAGAAGTTCGGGGACTTCATCACTTTGGCCAACAGGGAGGTCCTGTTGTGCGTGCTGGTGTTC
CTCTCGCTGGGCCTGGTGCTCTCCTACCGCTGTCGCCACCGAAACGGGGGTCTCCTCGGGCGCCAGCAGAGCGGCTCCCAGTTCGCCCTCTTCTCGGATATTCTC
TCAGGCCTGCCTTTCATTGGCTTCTTCTGGGCCAAATCCCCCCCTGAATCAGAAAATAAGGAGCAGCTCGAGGCCAGGAGGCGCAGAAAAGGAACCAATATTTCA
GAAACAAGCTTAATAGGAACAGCTGCCTGTACATCAACATCTTCTCAGAATGACCCAGAAGTTATCATCGTGGGAGCTGGCGTGCTTGGCTCTGCTTTGGCAGCT
GTGCTTTCCAGAGATGGAAGAAAGGTGACAGTCATTGAGAGAGACTTAAAAGAGCCTGACAGAATAGTTGGAGAATTCCTGCAGCCGGGTGGTTATCATGTTCTC
AAAGACCTTGGTCTTGGAGATACAGTGGAAGGTCTTGATGCCCAGGTTGTAAATGGTTACATGATTCATGATCAGGAAAGCAAATCAGAGGTTCAGATTCCTTAC
CCTCTGTCAGAAAACAATCAAGTGCAGAGTGGAAGAGCTTTCCATCACGGAAGATTCATCATGAGTCTCCGGAAAGCAGCTATGGCAGAGCCCAATGCAAAGTTT
ATTGAAGGTGTTGTGTTACAGTTATTAGAGGAAGATGATGTTGTGATGGGAGTTCAGTACAAGGATAAAGAGACTGGAGATATCAAGGAACTCCATGCTCCACTG
ACTGTTGTTGCAGATGGGCTTTTCTCCAAGTTCAGGAAAAGCCTGGTCTCCAATAAAGTTTCTGTATCATCTCATTTTGTTGGCTTTCTTATGAAGAATGCACCA
CAGTTTAAAGCAAATCATGCTGAACTTATTTTAGCTAACCCGAGTCCAGTTCTCATCTACCAGATTTCATCCAGTGAAACTCGAGTACTTGTTGACATTAGAGGA
GAAATGCCAAGGAATTTAAGAGAATACATGGTTGAAAAAATTTACCCACAAATACCTGATCACCTGAAAGAACCATTCTTAGAAGCCACTGACAATTCTCATCTG
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>SQLE|6713|protein
MWTFLGIATFTYFYKKFGDFITLANREVLLCVLVFLSLGLVLSYRCRHRNGGLLGRQQSGSQFALFSDILSGLPFIGFFWAKSPPESENKEQLEARRRRKGTNIS
ETSLIGTAACTSTSSQNDPEVIIVGAGVLGSALAAVLSRDGRKVTVIERDLKEPDRIVGEFLQPGGYHVLKDLGLGDTVEGLDAQVVNGYMIHDQESKSEVQIPY
PLSENNQVQSGRAFHHGRFIMSLRKAAMAEPNAKFIEGVVLQLLEEDDVVMGVQYKDKETGDIKELHAPLTVVADGLFSKFRKSLVSNKVSVSSHFVGFLMKNAP
QFKANHAELILANPSPVLIYQISSSETRVLVDIRGEMPRNLREYMVEKIYPQIPDHLKEPFLEATDNSHLRSMPASFLPPSSVKKRGVLLLGDAYNMRHPLTGGG
MTVAFKDIKLWRKLLKGIPDLYDDAAIFEAKKSFYWARKTSHSFVVNILAQALYELFSATDDSLHQLRKACFLYFKLGGECVAGPVGLLSVLSPNPLVLIGHFFA
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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) 0 (1) 1 (3) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top