Evidence Details for EYA2
Basic Information Top
| Gene Symbol: | EYA2 ( EAB1,MGC10614 ) |
|---|---|
| Gene Full Name: | eyes absent homolog 2 (Drosophila) |
| Band: | 20q13.12 |
| Quick Links | Entrez ID:2139; OMIM: 601654; Uniprot ID:EYA2_HUMAN; ENSEMBL ID: ENSG00000064655; HGNC ID: 3520 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>EYA2|2139|nucleotide
ATGGTAGAACTAGTGATCTCACCCAGCCTCACTGTAAACAGCGATTGTCTGGATAAACTGAAGTTTAACCGTGCTGACGCTGCTGTGTGGACTCTGAGTGACAGA
CAAGGCATCACCAAATCGGCCCCCCTGAGAGTGTCCCAGCTCTTCTCCAGATCTTGCCCACGTGTCCTCCCCCGCCAGCCTTCCACAGCCATGGCAGCCTACGGC
CAGACGCAGTACAGTGCGGGGATCCAGCAGGCTACCCCCTATACAGCTTACCCACCTCCAGCACAAGCCTATGGAATCCCTTCCTACAGCATCAAGACAGAAGAC
AGCTTGAACCATTCCCCTGGCCAGAGTGGATTCCTCAGCTATGGCTCCAGCTTCAGCACCTCACCCACTGGACAGAGCCCATACACCTACCAGATGCACGGCACA
ACAGGGTTCTATCAAGGAGGAAATGGACTGGGCAACGCAGCCGGTTTCGGGAGTGTGCACCAGGACTATCCTTCCTACCCCGGCTTCCCCCAGAGCCAGTACCCC
CAGTATTACGGCTCATCCTACAACCCTCCCTACGTCCCGGCCAGCAGCATCTGCCCTTCGCCCCTCTCCACGTCCACCTACGTCCTCCAGGAGGCATCTCACAAC
GTCCCCAACCAGAGTTCCGAGTCACTTGCTGGTGAATACAACACACACAATGGACCTTCCACACCAGCGAAAGAGGGAGACACAGACAGGCCGCACCGGGCCTCC
GACGGGAAGCTCCGAGGCCGGTCTAAGAGGAGCAGTGACCCGTCCCCGGCAGGGGACAATGAGATTGAGCGTGTGTTCGTGTGGGACTTGGATGAGACAATAATT
ATTTTTCACTCCTTACTCACGGGGACATTTGCATCCAGATACGGGAAGGACACCACGACGTCCGTGCGCATTGGCCTTATGATGGAAGAGATGATCTTCAACCTT
GCAGATACACATCTGTTCTTCAATGACCTGGAGGATTGTGACCAGATCCACGTTGATGACGTCTCATCAGATGACAATGGCCAAGATTTAAGCACATACAACTTC
TCCGCTGACGGCTTCCACAGTTCGGCCCCAGGAGCCAACCTGTGCCTGGGCTCTGGCGTGCACGGCGGCGTGGACTGGATGAGGAAGCTGGCCTTCCGCTACCGG
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ATGGTAGAACTAGTGATCTCACCCAGCCTCACTGTAAACAGCGATTGTCTGGATAAACTGAAGTTTAACCGTGCTGACGCTGCTGTGTGGACTCTGAGTGACAGA
CAAGGCATCACCAAATCGGCCCCCCTGAGAGTGTCCCAGCTCTTCTCCAGATCTTGCCCACGTGTCCTCCCCCGCCAGCCTTCCACAGCCATGGCAGCCTACGGC
CAGACGCAGTACAGTGCGGGGATCCAGCAGGCTACCCCCTATACAGCTTACCCACCTCCAGCACAAGCCTATGGAATCCCTTCCTACAGCATCAAGACAGAAGAC
AGCTTGAACCATTCCCCTGGCCAGAGTGGATTCCTCAGCTATGGCTCCAGCTTCAGCACCTCACCCACTGGACAGAGCCCATACACCTACCAGATGCACGGCACA
ACAGGGTTCTATCAAGGAGGAAATGGACTGGGCAACGCAGCCGGTTTCGGGAGTGTGCACCAGGACTATCCTTCCTACCCCGGCTTCCCCCAGAGCCAGTACCCC
CAGTATTACGGCTCATCCTACAACCCTCCCTACGTCCCGGCCAGCAGCATCTGCCCTTCGCCCCTCTCCACGTCCACCTACGTCCTCCAGGAGGCATCTCACAAC
GTCCCCAACCAGAGTTCCGAGTCACTTGCTGGTGAATACAACACACACAATGGACCTTCCACACCAGCGAAAGAGGGAGACACAGACAGGCCGCACCGGGCCTCC
GACGGGAAGCTCCGAGGCCGGTCTAAGAGGAGCAGTGACCCGTCCCCGGCAGGGGACAATGAGATTGAGCGTGTGTTCGTGTGGGACTTGGATGAGACAATAATT
ATTTTTCACTCCTTACTCACGGGGACATTTGCATCCAGATACGGGAAGGACACCACGACGTCCGTGCGCATTGGCCTTATGATGGAAGAGATGATCTTCAACCTT
GCAGATACACATCTGTTCTTCAATGACCTGGAGGATTGTGACCAGATCCACGTTGATGACGTCTCATCAGATGACAATGGCCAAGATTTAAGCACATACAACTTC
TCCGCTGACGGCTTCCACAGTTCGGCCCCAGGAGCCAACCTGTGCCTGGGCTCTGGCGTGCACGGCGGCGTGGACTGGATGAGGAAGCTGGCCTTCCGCTACCGG
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>EYA2|2139|protein
MVELVISPSLTVNSDCLDKLKFNRADAAVWTLSDRQGITKSAPLRVSQLFSRSCPRVLPRQPSTAMAAYGQTQYSAGIQQATPYTAYPPPAQAYGIPSYSIKTED
SLNHSPGQSGFLSYGSSFSTSPTGQSPYTYQMHGTTGFYQGGNGLGNAAGFGSVHQDYPSYPGFPQSQYPQYYGSSYNPPYVPASSICPSPLSTSTYVLQEASHN
VPNQSSESLAGEYNTHNGPSTPAKEGDTDRPHRASDGKLRGRSKRSSDPSPAGDNEIERVFVWDLDETIIIFHSLLTGTFASRYGKDTTTSVRIGLMMEEMIFNL
ADTHLFFNDLEDCDQIHVDDVSSDDNGQDLSTYNFSADGFHSSAPGANLCLGSGVHGGVDWMRKLAFRYRRVKEMYNTYKNNVGGLIGTPKRETWLQLRAELEAL
TDLWLTHSLKALNLINSRPNCVNVLVTTTQLIPALAKVLLYGLGSVFPIENIYSATKTGKESCFERIMQRFGRKAVYVVIGDGVEEEQGAKKHNMPFWRISCHAD
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MVELVISPSLTVNSDCLDKLKFNRADAAVWTLSDRQGITKSAPLRVSQLFSRSCPRVLPRQPSTAMAAYGQTQYSAGIQQATPYTAYPPPAQAYGIPSYSIKTED
SLNHSPGQSGFLSYGSSFSTSPTGQSPYTYQMHGTTGFYQGGNGLGNAAGFGSVHQDYPSYPGFPQSQYPQYYGSSYNPPYVPASSICPSPLSTSTYVLQEASHN
VPNQSSESLAGEYNTHNGPSTPAKEGDTDRPHRASDGKLRGRSKRSSDPSPAGDNEIERVFVWDLDETIIIFHSLLTGTFASRYGKDTTTSVRIGLMMEEMIFNL
ADTHLFFNDLEDCDQIHVDDVSSDDNGQDLSTYNFSADGFHSSAPGANLCLGSGVHGGVDWMRKLAFRYRRVKEMYNTYKNNVGGLIGTPKRETWLQLRAELEAL
TDLWLTHSLKALNLINSRPNCVNVLVTTTQLIPALAKVLLYGLGSVFPIENIYSATKTGKESCFERIMQRFGRKAVYVVIGDGVEEEQGAKKHNMPFWRISCHAD
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Evidence summary TopClick 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 (1) | 0 (0) | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Allen-Brady, 2008 | - | SNP-based genomic screen | | | ASD | 1 | - | 1 | - | 7 | 22 | 29 |
Low Scale Association Studies (by Ethnic Group) TopLarge 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%) |
1.4428 | Up | - | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.