Evidence Details for EPHA7
Basic Information Top
Gene Symbol: | EPHA7 ( EHK3,HEK11 ) |
---|---|
Gene Full Name: | EPH receptor A7 |
Band: | 6q16.1 |
Quick Links | Entrez ID:2045; OMIM: 602190; Uniprot ID:EPHA7_HUMAN; ENSEMBL ID: ENSG00000135333; HGNC ID: 3390 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>EPHA7|2045|nucleotide
ATGGTTTTTCAAACTCGGTACCCTTCATGGATTATTTTATGCTACATCTGGCTGCTCCGCTTTGCACACACAGGGGAGGCGCAGGCTGCGAAGGAAGTACTACTG
CTGGATTCTAAAGCACAACAAACAGAGTTGGAGTGGATTTCCTCTCCACCCAATGGGTGGGAAGAAATTAGTGGTTTGGATGAGAACTATACCCCGATACGAACA
TACCAGGTGTGCCAAGTCATGGAGCCCAACCAAAACAACTGGCTGCGGACTAACTGGATTTCCAAAGGCAATGCACAAAGGATTTTTGTAGAATTGAAATTCACC
CTGAGGGATTGTAACAGTCTTCCTGGAGTACTGGGAACTTGCAAGGAAACATTTAATTTGTACTATTATGAAACAGACTATGACACTGGCAGGAATATAAGAGAA
AACCTCTATGTAAAAATAGACACCATTGCTGCAGATGAAAGTTTTACCCAAGGTGACCTTGGTGAAAGAAAGATGAAGCTTAACACTGAGGTGAGAGAGATTGGA
CCTTTGTCCAAAAAGGGATTCTATCTTGCCTTTCAGGATGTAGGGGCTTGCATAGCTTTGGTTTCTGTCAAAGTGTACTACAAGAAGTGCTGGTCCATTATTGAG
AACTTAGCTATCTTTCCAGATACAGTGACTGGTTCAGAATTTTCCTCTTTAGTCGAGGTTCGAGGGACATGTGTCAGCAGTGCAGAGGAAGAAGCGGAAAACGCC
CCCAGGATGCACTGCAGTGCAGAAGGAGAATGGTTAGTGCCCATTGGAAAATGTATCTGCAAAGCAGGCTACCAGCAAAAAGGAGACACTTGTGAACCCTGTGGC
CGTGGGTTCTACAAGTCTTCCTCTCAAGATCTTCAGTGCTCTCGTTGTCCAACTCACAGTTTTTCTGATAAAGAAGGCTCCTCCAGATGTGAATGTGAAGATGGG
TATTACAGGGCTCCATCTGACCCACCATACGTTGCGTGCACAAGGCCTCCATCTGCACCACAGAACCTCATTTTCAACATCAACCAAACCACAGTAAGTTTGGAA
TGGAGTCCTCCTGCAGACAATGGGGGAAGAAACGATGTGACCTACAGAATATTGTGTAAGCGGTGCAGTTGGGAGCAGGGCGAATGTGTTCCCTGTGGGAGTAAC
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ATGGTTTTTCAAACTCGGTACCCTTCATGGATTATTTTATGCTACATCTGGCTGCTCCGCTTTGCACACACAGGGGAGGCGCAGGCTGCGAAGGAAGTACTACTG
CTGGATTCTAAAGCACAACAAACAGAGTTGGAGTGGATTTCCTCTCCACCCAATGGGTGGGAAGAAATTAGTGGTTTGGATGAGAACTATACCCCGATACGAACA
TACCAGGTGTGCCAAGTCATGGAGCCCAACCAAAACAACTGGCTGCGGACTAACTGGATTTCCAAAGGCAATGCACAAAGGATTTTTGTAGAATTGAAATTCACC
CTGAGGGATTGTAACAGTCTTCCTGGAGTACTGGGAACTTGCAAGGAAACATTTAATTTGTACTATTATGAAACAGACTATGACACTGGCAGGAATATAAGAGAA
AACCTCTATGTAAAAATAGACACCATTGCTGCAGATGAAAGTTTTACCCAAGGTGACCTTGGTGAAAGAAAGATGAAGCTTAACACTGAGGTGAGAGAGATTGGA
CCTTTGTCCAAAAAGGGATTCTATCTTGCCTTTCAGGATGTAGGGGCTTGCATAGCTTTGGTTTCTGTCAAAGTGTACTACAAGAAGTGCTGGTCCATTATTGAG
AACTTAGCTATCTTTCCAGATACAGTGACTGGTTCAGAATTTTCCTCTTTAGTCGAGGTTCGAGGGACATGTGTCAGCAGTGCAGAGGAAGAAGCGGAAAACGCC
CCCAGGATGCACTGCAGTGCAGAAGGAGAATGGTTAGTGCCCATTGGAAAATGTATCTGCAAAGCAGGCTACCAGCAAAAAGGAGACACTTGTGAACCCTGTGGC
CGTGGGTTCTACAAGTCTTCCTCTCAAGATCTTCAGTGCTCTCGTTGTCCAACTCACAGTTTTTCTGATAAAGAAGGCTCCTCCAGATGTGAATGTGAAGATGGG
TATTACAGGGCTCCATCTGACCCACCATACGTTGCGTGCACAAGGCCTCCATCTGCACCACAGAACCTCATTTTCAACATCAACCAAACCACAGTAAGTTTGGAA
TGGAGTCCTCCTGCAGACAATGGGGGAAGAAACGATGTGACCTACAGAATATTGTGTAAGCGGTGCAGTTGGGAGCAGGGCGAATGTGTTCCCTGTGGGAGTAAC
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>EPHA7|2045|protein
MVFQTRYPSWIILCYIWLLRFAHTGEAQAAKEVLLLDSKAQQTELEWISSPPNGWEEISGLDENYTPIRTYQVCQVMEPNQNNWLRTNWISKGNAQRIFVELKFT
LRDCNSLPGVLGTCKETFNLYYYETDYDTGRNIRENLYVKIDTIAADESFTQGDLGERKMKLNTEVREIGPLSKKGFYLAFQDVGACIALVSVKVYYKKCWSIIE
NLAIFPDTVTGSEFSSLVEVRGTCVSSAEEEAENAPRMHCSAEGEWLVPIGKCICKAGYQQKGDTCEPCGRGFYKSSSQDLQCSRCPTHSFSDKEGSSRCECEDG
YYRAPSDPPYVACTRPPSAPQNLIFNINQTTVSLEWSPPADNGGRNDVTYRILCKRCSWEQGECVPCGSNIGYMPQQTGLEDNYVTVMDLLAHANYTFEVEAVNG
VSDLSRSQRLFAAVSITTGQAAPSQVSGVMKERVLQRSVELSWQEPEHPNGVITEYEIKYYEKDQRERTYSTVKTKSTSASINNLKPGTVYVFQIRAFTAAGYGN
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MVFQTRYPSWIILCYIWLLRFAHTGEAQAAKEVLLLDSKAQQTELEWISSPPNGWEEISGLDENYTPIRTYQVCQVMEPNQNNWLRTNWISKGNAQRIFVELKFT
LRDCNSLPGVLGTCKETFNLYYYETDYDTGRNIRENLYVKIDTIAADESFTQGDLGERKMKLNTEVREIGPLSKKGFYLAFQDVGACIALVSVKVYYKKCWSIIE
NLAIFPDTVTGSEFSSLVEVRGTCVSSAEEEAENAPRMHCSAEGEWLVPIGKCICKAGYQQKGDTCEPCGRGFYKSSSQDLQCSRCPTHSFSDKEGSSRCECEDG
YYRAPSDPPYVACTRPPSAPQNLIFNINQTTVSLEWSPPADNGGRNDVTYRILCKRCSWEQGECVPCGSNIGYMPQQTGLEDNYVTVMDLLAHANYTFEVEAVNG
VSDLSRSQRLFAAVSITTGQAAPSQVSGVMKERVLQRSVELSWQEPEHPNGVITEYEIKYYEKDQRERTYSTVKTKSTSASINNLKPGTVYVFQIRAFTAAGYGN
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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) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) | 0 (0) | 0 (2) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Doan RN, 2016 | - | - | - | - | ASD | - | - | - | - | - |
Low Scale Gene Studies Top
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