AutismKB 2.0

Evidence Details for ECT2


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Basic Information Top
Gene Symbol:ECT2 ( ARHGEF31,FLJ10461,MGC138291 )
Gene Full Name: epithelial cell transforming sequence 2 oncogene
Band: 3q26.31
Quick LinksEntrez ID:1894; OMIM: 600586; Uniprot ID:ECT2_HUMAN; ENSEMBL ID: ENSG00000114346; HGNC ID: 3155
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ECT2|1894|nucleotide
ATGGCTGAAAATAGTGTATTAACATCCACTACTGGGAGGACTAGCTTGGCAGACTCTTCCATTTTTGATTCTAAAGTTACTGAGATTTCCAAGGAAAACTTACTT
ATTGGATCTACTTCATATGTAGAAGAAGAGATGCCTCAGATTGAAACAAGAGTGATATTGGTTCAAGAAGCTGGAAAACAAGAAGAACTTATAAAAGCCTTAAAG
GACATTAAAGTGGGCTTTGTAAAGATGGAGTCAGTGGAAGAATTTGAAGGTTTGGATTCTCCGGAATTTGAAAATGTATTTGTAGTCACGGACTTTCAGGATTCT
GTCTTTAATGACCTCTACAAGGCTGATTGTAGAGTTATTGGACCACCAGTTGTATTAAATTGTTCACAAAAAGGAGAGCCTTTGCCATTTTCATGTCGCCCGTTG
TATTGTACAAGTATGATGAATCTAGTACTATGCTTTACTGGATTTAGGAAAAAAGAAGAACTAGTCAGGTTGGTGACATTGGTCCATCACATGGGTGGAGTTATT
CGAAAAGACTTTAATTCAAAAGTTACACATTTGGTGGCAAATTGTACACAAGGAGAAAAATTCAGGGTTGCTGTGAGTCTAGGTACTCCAATTATGAAGCCAGAA
TGGATTTATAAAGCTTGGGAAAGGCGGAATGAACAGGATTTCTATGCAGCAGTTGATGACTTTAGAAATGAATTTAAAGTTCCTCCATTTCAAGATTGTATTTTA
AGTTTCCTGGGATTTTCAGATGAAGAGAAAACCAATATGGAAGAAATGACTGAAATGCAAGGAGGTAAATATTTACCGCTTGGAGATGAAAGATGCACTCACCTT
GTAGTTGAAGAGAATATAGTAAAAGATCTTCCCTTTGAACCTTCAAAGAAACTTTATGTTGTCAAGCAAGAGTGGTTCTGGGGAAGCATTCAAATGGATGCCCGA
GCTGGAGAAACTATGTATTTATATGAAAAGGCAAATACTCCTGAGCTCAAGAAATCAGTGTCAATGCTTTCTCTAAATACCCCTAACAGCAATCGCAAACGACGT
CGTTTAAAAGAAACACTTGCTCAGCTTTCAAGAGAGACAGACGTGTCACCATTTCCACCCCGTAAGCGCCCATCAGCTGAGCATTCCCTTTCCATAGGGTCACTC
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>ECT2|1894|protein
MAENSVLTSTTGRTSLADSSIFDSKVTEISKENLLIGSTSYVEEEMPQIETRVILVQEAGKQEELIKALKDIKVGFVKMESVEEFEGLDSPEFENVFVVTDFQDS
VFNDLYKADCRVIGPPVVLNCSQKGEPLPFSCRPLYCTSMMNLVLCFTGFRKKEELVRLVTLVHHMGGVIRKDFNSKVTHLVANCTQGEKFRVAVSLGTPIMKPE
WIYKAWERRNEQDFYAAVDDFRNEFKVPPFQDCILSFLGFSDEEKTNMEEMTEMQGGKYLPLGDERCTHLVVEENIVKDLPFEPSKKLYVVKQEWFWGSIQMDAR
AGETMYLYEKANTPELKKSVSMLSLNTPNSNRKRRRLKETLAQLSRETDVSPFPPRKRPSAEHSLSIGSLLDISNTPESSINYGDTPKSCTKSSKSSTPVPSKQS
ARWQVAKELYQTESNYVNILATIIQLFQVPLEEEGQRGGPILAPEEIKTIFGSIPDIFDVHTKIKDDLEDLIVNWDESKSIGDIFLKYSKDLVKTYPPFVNFFEM
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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 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top