AutismKB 2.0

Evidence Details for ECT2L


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Basic Information Top
Gene Symbol:ECT2L ( ARHGEF32,C6orf91,FBXO49,LFDH,dJ509I19.2,dJ509I19.3,dJ509I19.5 )
Gene Full Name: epithelial cell transforming sequence 2 oncogene-like
Band: 6q24.1
Quick LinksEntrez ID:345930; OMIM: NA; Uniprot ID:ECT2L_HUMAN; ENSEMBL ID: ENSG00000203734; HGNC ID: 21118
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ECT2L|345930|nucleotide
ATGGAGAGCTTCCACACCAGATTTAGTGCCTGGACACCTTTTAGCAACAAGTCATTAAATAGACAGCTCTTTCAGGAAAGAGTGGCTCTTATAAGTCATTGGTTT
GACCTCTGGACTAACAAGCAACGTCAAGAATTCTTATTCGCAATTTTTTTAAGATGCACTAAATCACAATTAAGGTTTGTCCAAGACTGGTTTTCAGAAAGGATG
CAAGTGGCCAAAGTGGACTTCTCTACAGTGTTACCACGCTTCATTTCTCTATATATCTTTTCCTTTTTGAGTCCGAAAGATTTGTGTGCCGCTGCCCAAGTCAGC
TGGCCCTGGAAGTTTTTAACTGAACAGGATTGCTTATGGATGCCCAAATGCGTTAAGTTCGGATGGTTTCTGCCCTATACTCCAACAGATAATGAGTATGGTGCT
TGGAAGCGCCATTACATTGCTTGTGTGTCCCACTTAGACTGGCTGACACCTAGGGAGGCTGCTGCTACTTATGGGACGCTGAATGAACCCAAAACAGAAGATGAG
GAACTACTGGAGAGACAAAGAGAAAAGTGCCTGAGGAAAAGAATTTGGGAGAAAATTGCACTACGTAAGAAGGAGTTATTCAAAGTTCGACCCCCTTGGGTGAGT
GGAACTTGCTGCTCTAGCGTGCTAAAGCCCAGATGCCAACCACGCCTCTCCCAGACTGTAAGGGAGCGAGTGGGATTACATGAAGCTTTGGAGAAACAGCTTGTT
TTGACATCGTTAGAAACCTTGCCCAAGCGAAGCAATATTTCTGGAAGCCATTCCTACCCTTTATTATCAAAGAAAAATTGGCATGGAGTTCATAAAAATGATGAC
AGATCTTCATATGCTCTCCGGCCACACTTCATGTTAATATCATCCCGGATTCCTGCGTATGAGATGGTGATGGAGAGTGTGAAGGCTGGTGTTGTTTCTGTGGTA
TATGAACACAGCGTAACCTTGGAAAGCCTTCTGTATCTTATAGAAAAAGCTCTGGATGGGCAGAAGGCACAGAGCATCGGAATATTTAGCGATGGAGACAGCAGA
GAAATCAATTTACTCCAAGGCTATAAAATTGGTGTTAAAAATTTACTGAGGCCTGAAGTGAGAGATTTCTGGGAGAAATTAGGAAGCTATGTGGCCACTGAAGAA
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>ECT2L|345930|protein
MESFHTRFSAWTPFSNKSLNRQLFQERVALISHWFDLWTNKQRQEFLFAIFLRCTKSQLRFVQDWFSERMQVAKVDFSTVLPRFISLYIFSFLSPKDLCAAAQVS
WPWKFLTEQDCLWMPKCVKFGWFLPYTPTDNEYGAWKRHYIACVSHLDWLTPREAAATYGTLNEPKTEDEELLERQREKCLRKRIWEKIALRKKELFKVRPPWVS
GTCCSSVLKPRCQPRLSQTVRERVGLHEALEKQLVLTSLETLPKRSNISGSHSYPLLSKKNWHGVHKNDDRSSYALRPHFMLISSRIPAYEMVMESVKAGVVSVV
YEHSVTLESLLYLIEKALDGQKAQSIGIFSDGDSREINLLQGYKIGVKNLLRPEVRDFWEKLGSYVATEEEGGHVDFFVPLGASEAGIEVLSQLSQLTGTFFTAP
TGIATGSYQHILSDWLGSQWGKAPSSIYFCESKLQTWSSFTDFLEETLKTVRKQLYPFFKELQKSISGRMIGQFMFDTMGMTNILNNQDTAQALADGLMELSKED
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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 (0) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top