Evidence Details for EYA4
Basic Information Top
| Gene Symbol: | EYA4 ( CMD1J,DFNA10 ) |
|---|---|
| Gene Full Name: | eyes absent homolog 4 (Drosophila) |
| Band: | 6q23.2 |
| Quick Links | Entrez ID:2070; OMIM: 603550; Uniprot ID:EYA4_HUMAN; ENSEMBL ID: ENSG00000112319; HGNC ID: 3522 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>EYA4|2070|nucleotide
ATGGAAGACTCCCAGGATTTAAATGAACAATCAGTAAAGAAAACGTGCACAGAATCAGATGTTTCACAATCTCAGAATTCCAGGTCTATGGAAATGCAGGACCTA
GCAAGTCCTCATACTCTTGTTGGAGGTGGTGATACTCCAGGTAGCTCCAAACTGGAAAAATCTAATCTCAGCAGCACATCAGTTACTACAAATGGGACAGGAGGG
GAAAACATGACTGTTTTAAACACAGCAGACTGGTTGCTGAGTTGCAACACCCCCTCTTCTGCAACAATGTCTCTTCTTGCAGTCAAAACAGAGCCCTTGAACAGC
AGTGAAACCACAGCCACGACTGGAGATGGAGCGCTTGACACTTTTACTGGGTCAGTAATTACAAGTAGTGGCTACAGCCCCAGATCAGCACATCAGTATTCCCCA
CAGCTGTATCCTTCCAAGCCCTATCCACACATTCTTTCTACACCAGCAGCTCAAACAATGTCTGCCTATGCAGGCCAGACTCAGTATTCGGGGATGCAGCAGCCA
GCCGTCTACACAGCCTACTCACAGACAGGACAGCCCTACAGCTTGCCCACTTACGATTTGGGTGTGATGTTGCCAGCCATCAAGACAGAGAGTGGACTTTCCCAA
ACTCAGTCCCCATTACAGAGTGGCTGCCTCAGTTACAGCCCAGGGTTCTCTACCCCACAGCCAGGCCAGACACCTTATTCTTACCAAATGCCAGGTTCTAGTTTT
GCACCATCATCTACTATTTATGCAAATAATTCAGTTTCCAATTCAACGAATTTCAGTGGTTCACAACAGGATTATCCATCCTATACAGCCTTTGGCCAAAACCAG
TATGCACAGTATTATTCAGCATCAACGTATGGAGCGTATATGACATCGAATAACACAGCCGATGGCACACCCTCTTCAACCTCTACTTATCAGTTGCAGGAATCT
CTCCCAGGACTGACTAACCAACCAGGAGAGTTCGATACCATGCAGAGTCCCTCCACACCCATCAAAGATCTTGATGAGAGAACCTGTAGGAGTTCTGGGTCAAAG
TCCAGAGGAAGAGGCCGGAAAAATAATCCCTCCCCGCCTCCTGATAGTGACCTGGAGCGTGTGTTTGTCTGGGATTTGGATGAAACCATCATTGTTTTTCACTCA
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ATGGAAGACTCCCAGGATTTAAATGAACAATCAGTAAAGAAAACGTGCACAGAATCAGATGTTTCACAATCTCAGAATTCCAGGTCTATGGAAATGCAGGACCTA
GCAAGTCCTCATACTCTTGTTGGAGGTGGTGATACTCCAGGTAGCTCCAAACTGGAAAAATCTAATCTCAGCAGCACATCAGTTACTACAAATGGGACAGGAGGG
GAAAACATGACTGTTTTAAACACAGCAGACTGGTTGCTGAGTTGCAACACCCCCTCTTCTGCAACAATGTCTCTTCTTGCAGTCAAAACAGAGCCCTTGAACAGC
AGTGAAACCACAGCCACGACTGGAGATGGAGCGCTTGACACTTTTACTGGGTCAGTAATTACAAGTAGTGGCTACAGCCCCAGATCAGCACATCAGTATTCCCCA
CAGCTGTATCCTTCCAAGCCCTATCCACACATTCTTTCTACACCAGCAGCTCAAACAATGTCTGCCTATGCAGGCCAGACTCAGTATTCGGGGATGCAGCAGCCA
GCCGTCTACACAGCCTACTCACAGACAGGACAGCCCTACAGCTTGCCCACTTACGATTTGGGTGTGATGTTGCCAGCCATCAAGACAGAGAGTGGACTTTCCCAA
ACTCAGTCCCCATTACAGAGTGGCTGCCTCAGTTACAGCCCAGGGTTCTCTACCCCACAGCCAGGCCAGACACCTTATTCTTACCAAATGCCAGGTTCTAGTTTT
GCACCATCATCTACTATTTATGCAAATAATTCAGTTTCCAATTCAACGAATTTCAGTGGTTCACAACAGGATTATCCATCCTATACAGCCTTTGGCCAAAACCAG
TATGCACAGTATTATTCAGCATCAACGTATGGAGCGTATATGACATCGAATAACACAGCCGATGGCACACCCTCTTCAACCTCTACTTATCAGTTGCAGGAATCT
CTCCCAGGACTGACTAACCAACCAGGAGAGTTCGATACCATGCAGAGTCCCTCCACACCCATCAAAGATCTTGATGAGAGAACCTGTAGGAGTTCTGGGTCAAAG
TCCAGAGGAAGAGGCCGGAAAAATAATCCCTCCCCGCCTCCTGATAGTGACCTGGAGCGTGTGTTTGTCTGGGATTTGGATGAAACCATCATTGTTTTTCACTCA
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>EYA4|2070|protein
MEDSQDLNEQSVKKTCTESDVSQSQNSRSMEMQDLASPHTLVGGGDTPGSSKLEKSNLSSTSVTTNGTGGENMTVLNTADWLLSCNTPSSATMSLLAVKTEPLNS
SETTATTGDGALDTFTGSVITSSGYSPRSAHQYSPQLYPSKPYPHILSTPAAQTMSAYAGQTQYSGMQQPAVYTAYSQTGQPYSLPTYDLGVMLPAIKTESGLSQ
TQSPLQSGCLSYSPGFSTPQPGQTPYSYQMPGSSFAPSSTIYANNSVSNSTNFSGSQQDYPSYTAFGQNQYAQYYSASTYGAYMTSNNTADGTPSSTSTYQLQES
LPGLTNQPGEFDTMQSPSTPIKDLDERTCRSSGSKSRGRGRKNNPSPPPDSDLERVFVWDLDETIIVFHSLLTGSYAQKYGKDPPMAVTLGLRMEEMIFNLADTH
LFFNDLEECDQVHIDDVSSDDNGQDLSTYSFATDGFHAAASSANLCLPTGVRGGVDWMRKLAFRYRRVKELYNTYKNNVGGLLGPAKRDAWLQLRAEIEGLTDSW
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MEDSQDLNEQSVKKTCTESDVSQSQNSRSMEMQDLASPHTLVGGGDTPGSSKLEKSNLSSTSVTTNGTGGENMTVLNTADWLLSCNTPSSATMSLLAVKTEPLNS
SETTATTGDGALDTFTGSVITSSGYSPRSAHQYSPQLYPSKPYPHILSTPAAQTMSAYAGQTQYSGMQQPAVYTAYSQTGQPYSLPTYDLGVMLPAIKTESGLSQ
TQSPLQSGCLSYSPGFSTPQPGQTPYSYQMPGSSFAPSSTIYANNSVSNSTNFSGSQQDYPSYTAFGQNQYAQYYSASTYGAYMTSNNTADGTPSSTSTYQLQES
LPGLTNQPGEFDTMQSPSTPIKDLDERTCRSSGSKSRGRGRKNNPSPPPDSDLERVFVWDLDETIIVFHSLLTGSYAQKYGKDPPMAVTLGLRMEEMIFNLADTH
LFFNDLEECDQVHIDDVSSDDNGQDLSTYSFATDGFHAAASSANLCLPTGVRGGVDWMRKLAFRYRRVKELYNTYKNNVGGLLGPAKRDAWLQLRAEIEGLTDSW
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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 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (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 | ||||||
| McCauley, 2005 | - | microsatellite-based genomic screen | | | autism | 158 | - | 158 | - | 333 | - | - |
| Allen-Brady, 2010 | USA | SNP-based genomic screen | | | ASD | 40 | - | 40 | - | 192 | 461 | 653 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS 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.