Evidence Details for ELK1
Basic Information Top
Gene Symbol: | ELK1 ( - ) |
---|---|
Gene Full Name: | ELK1, member of ETS oncogene family |
Band: | Xp11.23 |
Quick Links | Entrez 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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ATGGACCCATCTGTGACGCTGTGGCAGTTTCTGCTGCAGCTGCTGAGAGAGCAAGGCAATGGCCACATCATCTCCTGGACTTCACGGGATGGTGGTGAATTCAAG
CTGGTGGATGCAGAGGAGGTGGCCCGGCTGTGGGGGCTACGCAAGAACAAGACCAACATGAATTACGACAAGCTCAGCCGGGCCTTGCGGTACTACTATGACAAG
AACATCATCCGCAAGGTGAGCGGCCAGAAGTTCGTCTACAAGTTTGTGTCCTACCCTGAGGTCGCAGGGTGCTCCACTGAGGACTGCCCGCCCCAGCCAGAGGTG
TCTGTTACCTCCACCATGCCAAATGTGGCCCCTGCTGCTATACATGCCGCCCCAGGGGACACTGTCTCTGGAAAGCCAGGCACACCCAAGGGTGCAGGAATGGCA
GGCCCAGGCGGTTTGGCACGCAGCAGCCGGAACGAGTACATGCGCTCGGGCCTCTATTCCACCTTCACCATCCAGTCTCTGCAGCCGCAGCCACCCCCTCATCCT
CGGCCTGCTGTGGTGCTCCCCAGTGCAGCTCCTGCAGGGGCAGCAGCGCCCCCCTCGGGGAGCAGGAGCACCAGTCCAAGCCCCTTGGAGGCCTGTCTGGAGGCT
GAAGAGGCCGGCTTGCCTCTGCAGGTCATCCTGACCCCGCCCGAGGCCCCAAACCTGAAATCGGAAGAGCTTAATGTGGAGCCGGGTTTGGGCCGGGCTTTGCCC
CCAGAAGTGAAAGTAGAAGGGCCCAAGGAAGAGTTGGAAGTTGCGGGGGAGAGAGGGTTTGTGCCAGAAACCACCAAGGCCGAGCCAGAAGTCCCTCCACAGGAG
GGCGTGCCAGCCCGGCTGCCCGCGGTTGTTATGGACACCGCAGGGCAGGCGGGCGGCCATGCGGCTTCCAGCCCTGAGATCTCCCAGCCGCAGAAGGGCCGGAAG
CCCCGGGACCTAGAGCTTCCACTCAGCCCGAGCCTGCTAGGTGGGCCGGGACCCGAACGGACCCCAGGATCGGGAAGTGGCTCCGGCCTCCAGGCTCCGGGGCCG
GCGCTGACCCCATCCCTGCTTCCTACGCATACATTGACCCCGGTGCTGCTGACACCCAGCTCGCTGCCTCCTAGCATTCACTTCTGGAGCACCCTGAGTCCCATT
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 | Honduras | aCGH | autism | - | - | - | - | 1 | - | 1 | ||
Edens, 2011 | Austria | FISH, aCGH | autism | - | - | - | - | 1 | - | 1 | ||
Edens, 2011 | Honduras | aCGH | autism | - | - | - | - | 1 | - | 1 | ||
Edens, 2011 | Austria | FISH, aCGH | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | - | autism | 16 (6.25%) |
1.33492 | Up | 0.349478 |
Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Neale BM, 2012 | 175 | 175 | 173 | Patterns and rates of exonic de novo mutations in autism spectrum disorders. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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