AutismKB 2.0

Evidence Details for ELK1


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Basic Information Top
Gene Symbol:ELK1 ( - )
Gene Full Name: ELK1, member of ETS oncogene family
Band: Xp11.23
Quick LinksEntrez ID:2002; OMIM: 311040; Uniprot ID:ELK1_HUMAN; ENSEMBL ID: ENSG00000126767; HGNC ID: 3321
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ELK1|2002|nucleotide
ATGGACCCATCTGTGACGCTGTGGCAGTTTCTGCTGCAGCTGCTGAGAGAGCAAGGCAATGGCCACATCATCTCCTGGACTTCACGGGATGGTGGTGAATTCAAG
CTGGTGGATGCAGAGGAGGTGGCCCGGCTGTGGGGGCTACGCAAGAACAAGACCAACATGAATTACGACAAGCTCAGCCGGGCCTTGCGGTACTACTATGACAAG
AACATCATCCGCAAGGTGAGCGGCCAGAAGTTCGTCTACAAGTTTGTGTCCTACCCTGAGGTCGCAGGGTGCTCCACTGAGGACTGCCCGCCCCAGCCAGAGGTG
TCTGTTACCTCCACCATGCCAAATGTGGCCCCTGCTGCTATACATGCCGCCCCAGGGGACACTGTCTCTGGAAAGCCAGGCACACCCAAGGGTGCAGGAATGGCA
GGCCCAGGCGGTTTGGCACGCAGCAGCCGGAACGAGTACATGCGCTCGGGCCTCTATTCCACCTTCACCATCCAGTCTCTGCAGCCGCAGCCACCCCCTCATCCT
CGGCCTGCTGTGGTGCTCCCCAGTGCAGCTCCTGCAGGGGCAGCAGCGCCCCCCTCGGGGAGCAGGAGCACCAGTCCAAGCCCCTTGGAGGCCTGTCTGGAGGCT
GAAGAGGCCGGCTTGCCTCTGCAGGTCATCCTGACCCCGCCCGAGGCCCCAAACCTGAAATCGGAAGAGCTTAATGTGGAGCCGGGTTTGGGCCGGGCTTTGCCC
CCAGAAGTGAAAGTAGAAGGGCCCAAGGAAGAGTTGGAAGTTGCGGGGGAGAGAGGGTTTGTGCCAGAAACCACCAAGGCCGAGCCAGAAGTCCCTCCACAGGAG
GGCGTGCCAGCCCGGCTGCCCGCGGTTGTTATGGACACCGCAGGGCAGGCGGGCGGCCATGCGGCTTCCAGCCCTGAGATCTCCCAGCCGCAGAAGGGCCGGAAG
CCCCGGGACCTAGAGCTTCCACTCAGCCCGAGCCTGCTAGGTGGGCCGGGACCCGAACGGACCCCAGGATCGGGAAGTGGCTCCGGCCTCCAGGCTCCGGGGCCG
GCGCTGACCCCATCCCTGCTTCCTACGCATACATTGACCCCGGTGCTGCTGACACCCAGCTCGCTGCCTCCTAGCATTCACTTCTGGAGCACCCTGAGTCCCATT
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>ELK1|2002|protein
MDPSVTLWQFLLQLLREQGNGHIISWTSRDGGEFKLVDAEEVARLWGLRKNKTNMNYDKLSRALRYYYDKNIIRKVSGQKFVYKFVSYPEVAGCSTEDCPPQPEV
SVTSTMPNVAPAAIHAAPGDTVSGKPGTPKGAGMAGPGGLARSSRNEYMRSGLYSTFTIQSLQPQPPPHPRPAVVLPSAAPAGAAAPPSGSRSTSPSPLEACLEA
EEAGLPLQVILTPPEAPNLKSEELNVEPGLGRALPPEVKVEGPKEELEVAGERGFVPETTKAEPEVPPQEGVPARLPAVVMDTAGQAGGHAASSPEISQPQKGRK
PRDLELPLSPSLLGGPGPERTPGSGSGSGLQAPGPALTPSLLPTHTLTPVLLTPSSLPPSIHFWSTLSPIAPRSPAKLSFQFPSSGSAQVHIPSISVDGLSTPVV
LSPGPQKP
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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) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 3 (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
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Linkage Studies Top