Evidence Details for EYA1
Basic Information Top
| Gene Symbol: | EYA1 ( BOP,BOR,MGC141875 ) |
|---|---|
| Gene Full Name: | eyes absent homolog 1 (Drosophila) |
| Band: | 8q13.3 |
| Quick Links | Entrez ID:2138; OMIM: 601653; Uniprot ID:EYA1_HUMAN; ENSEMBL ID: ENSG00000104313; HGNC ID: 3519 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>EYA1|2138|nucleotide
ATGGAAATGCAGGATCTAACCAGCCCGCATAGCCGTCTGAGTGGTAGTAGTGAATCCCCCAGTGGCCCCAAACTCGGTAACTCTCATATAAATAGTAATTCCATG
ACTCCCAATGGCACCGAAGTTAAAACAGAGCCAATGAGCAGCAGTGAAACAGCTTCAACGACAGCCGACGGGTCTTTAAACAATTTCTCAGGTTCAGCAATTGGG
AGCAGTAGTTTCAGCCCACGACCAACTCACCAGTTCTCTCCACCACAGATTTACCCTTCCAACAGACCATACCCACATATTCTCCCTACCCCTTCCTCACAAACT
ATGGCTGCATATGGGCAAACACAGTTTACCACAGGAATGCAACAAGCTACAGCCTATGCCACGTACCCACAGCCAGGACAGCCGTACGGCATTTCCTCATATGGT
GCATTGTGGGCAGGCATCAAGACTGAAGGTGGATTGTCACAGTCTCAGTCACCTGGACAGACAGGATTTCTCAGCTATGGCACAAGCTTCAGTACCCCTCAACCT
GGACAGGCACCATACAGCTACCAGATGCAAGGTAGCAGTTTTACAACATCATCAGGAATATATACAGGAAATAATTCACTCACAAATTCCTCTGGATTTAATAGT
TCACAGCAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTCACCGTATCCAGCACATTATATGACCAGCAGCAACACC
AGCCCAACGACACCATCCACCAATGCCACTTACCAGCTTCAAGAACCGCCATCTGGCATCACCAGCCAAGCAGTTACAGATCCCACAGCAGAGTACAGCACAATC
CACAGCCCATCAACACCCATTAAAGATTCAGATTCTGATCGATTGCGTCGAGGTTCAGATGGGAAATCACGTGGACGGGGCCGAAGAAACAATAATCCTTCACCT
CCCCCAGATTCTGATCTTGAGAGAGTGTTCATCTGGGACTTGGATGAGACAATCATTGTTTTCCACTCCTTGCTTACTGGGTCCTACGCCAACAGATATGGGAGG
GATCCACCCACTTCAGTTTCCCTTGGACTGCGAATGGAAGAAATGATTTTCAACTTGGCAGACACACATTTATTTTTTAATGACTTAGAAGAATGTGACCAAGTC
Show »
ATGGAAATGCAGGATCTAACCAGCCCGCATAGCCGTCTGAGTGGTAGTAGTGAATCCCCCAGTGGCCCCAAACTCGGTAACTCTCATATAAATAGTAATTCCATG
ACTCCCAATGGCACCGAAGTTAAAACAGAGCCAATGAGCAGCAGTGAAACAGCTTCAACGACAGCCGACGGGTCTTTAAACAATTTCTCAGGTTCAGCAATTGGG
AGCAGTAGTTTCAGCCCACGACCAACTCACCAGTTCTCTCCACCACAGATTTACCCTTCCAACAGACCATACCCACATATTCTCCCTACCCCTTCCTCACAAACT
ATGGCTGCATATGGGCAAACACAGTTTACCACAGGAATGCAACAAGCTACAGCCTATGCCACGTACCCACAGCCAGGACAGCCGTACGGCATTTCCTCATATGGT
GCATTGTGGGCAGGCATCAAGACTGAAGGTGGATTGTCACAGTCTCAGTCACCTGGACAGACAGGATTTCTCAGCTATGGCACAAGCTTCAGTACCCCTCAACCT
GGACAGGCACCATACAGCTACCAGATGCAAGGTAGCAGTTTTACAACATCATCAGGAATATATACAGGAAATAATTCACTCACAAATTCCTCTGGATTTAATAGT
TCACAGCAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTCACCGTATCCAGCACATTATATGACCAGCAGCAACACC
AGCCCAACGACACCATCCACCAATGCCACTTACCAGCTTCAAGAACCGCCATCTGGCATCACCAGCCAAGCAGTTACAGATCCCACAGCAGAGTACAGCACAATC
CACAGCCCATCAACACCCATTAAAGATTCAGATTCTGATCGATTGCGTCGAGGTTCAGATGGGAAATCACGTGGACGGGGCCGAAGAAACAATAATCCTTCACCT
CCCCCAGATTCTGATCTTGAGAGAGTGTTCATCTGGGACTTGGATGAGACAATCATTGTTTTCCACTCCTTGCTTACTGGGTCCTACGCCAACAGATATGGGAGG
GATCCACCCACTTCAGTTTCCCTTGGACTGCGAATGGAAGAAATGATTTTCAACTTGGCAGACACACATTTATTTTTTAATGACTTAGAAGAATGTGACCAAGTC
Show »
>EYA1|2138|protein
MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNGTEVKTEPMSSSETASTTADGSLNNFSGSAIGSSSFSPRPTHQFSPPQIYPSNRPYPHILPTPSSQT
MAAYGQTQFTTGMQQATAYATYPQPGQPYGISSYGALWAGIKTEGGLSQSQSPGQTGFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNS
SQQDYPSYPSFGQGQYAQYYNSSPYPAHYMTSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLRRGSDGKSRGRGRRNNNPSP
PPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGLRMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLSTYNFGTDGFPAAATSANLCL
ATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLTLALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIEN
Show »
MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNGTEVKTEPMSSSETASTTADGSLNNFSGSAIGSSSFSPRPTHQFSPPQIYPSNRPYPHILPTPSSQT
MAAYGQTQFTTGMQQATAYATYPQPGQPYGISSYGALWAGIKTEGGLSQSQSPGQTGFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNS
SQQDYPSYPSFGQGQYAQYYNSSPYPAHYMTSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTIHSPSTPIKDSDSDRLRRGSDGKSRGRGRRNNNPSP
PPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGRDPPTSVSLGLRMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLSTYNFGTDGFPAAATSANLCL
ATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLTLALKALSLIHSRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIEN
Show »
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) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (2) |
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