Evidence Details for NR2E3
Basic Information Top
| Gene Symbol: | NR2E3 ( ESCS,MGC49976,PNR,RNR,RP37,rd7 ) |
|---|---|
| Gene Full Name: | nuclear receptor subfamily 2, group E, member 3 |
| Band: | 15q23 |
| Quick Links | Entrez ID:10002; OMIM: 604485; Uniprot ID:NR2E3_HUMAN; ENSEMBL ID: ENSG00000031544; HGNC ID: 7974 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>NR2E3|10002|nucleotide
ATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGG
GAGGATCCCACAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTC
TTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTG
AAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAG
TCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCC
AGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCC
TCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCC
TTCCGGGATCAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCG
CCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTG
GACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAA
GTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTTTGGGAAATTGCTCCTGCTCCTCCCGTCTTTGAGGTTTATCACTGCGGAACGC
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ATGGAGACCAGACCAACAGCTCTGATGAGCTCCACAGTGGCTGCAGCTGCGCCTGCAGCTGGGGCTGCCTCCAGGAAGGAGTCTCCAGGCAGATGGGGCCTGGGG
GAGGATCCCACAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTC
TTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTG
AAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGCCGTGCAGAACGAGCGCCAGCCGCGAAGCACAGCCCAGGTCCACCTGGACAGCATGGAGTCCAACACTGAG
TCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCC
AGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGCTGATGAGAATATTGATGTCACCAGCAATGACCCTGAGTTCCCCTCCTCTCCATACTCC
TCTTCCTCCCCCTGCGGCCTGGACAGCATCCATGAGACCTCGGCTCGCCTACTCTTCATGGCCGTCAAGTGGGCCAAGAACCTGCCTGTGTTCTCCAGCCTGCCC
TTCCGGGATCAGGTGATCCTGCTGGAAGAGGCGTGGAGTGAACTCTTTCTCCTCGGGGCCATCCAGTGGTCTCTGCCTCTGGACAGCTGTCCTCTGCTGGCACCG
CCCGAGGCCTCTGCTGCCGGTGGTGCCCAGGGCCGGCTCACGCTGGCCAGCATGGAGACGCGTGTCCTGCAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTG
GACCCCACGGAGTTTGCCTGCATGAAGGCCTTGGTCCTCTTCAAGCCAGAGACGCGGGGCCTGAAGGATCCTGAGCACGTAGAGGCCTTGCAGGACCAGTCCCAA
GTGATGCTGAGCCAGCACAGCAAGGCCCACCACCCCAGCCAGCCCGTGAGGTTTGGGAAATTGCTCCTGCTCCTCCCGTCTTTGAGGTTTATCACTGCGGAACGC
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>NR2E3|10002|protein
METRPTALMSSTVAAAAPAAGAASRKESPGRWGLGEDPTGVSPSLQCRVCGDSSSGKHYGIYACNGCSGFFKRSVRRRLIYRCQVGAGMCPVDKAHRNQCQACRL
KKCLQAGMNQDAVQNERQPRSTAQVHLDSMESNTESRPESLVAPPAPAGRSPRGPTPMSAARALGHHFMASLITAETCAKLEPEDADENIDVTSNDPEFPSSPYS
SSSPCGLDSIHETSARLLFMAVKWAKNLPVFSSLPFRDQVILLEEAWSELFLLGAIQWSLPLDSCPLLAPPEASAAGGAQGRLTLASMETRVLQETISRFRALAV
DPTEFACMKALVLFKPETRGLKDPEHVEALQDQSQVMLSQHSKAHHPSQPVRFGKLLLLLPSLRFITAERIELLFFRKTIGNTPMEKLLCDMFKN
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METRPTALMSSTVAAAAPAAGAASRKESPGRWGLGEDPTGVSPSLQCRVCGDSSSGKHYGIYACNGCSGFFKRSVRRRLIYRCQVGAGMCPVDKAHRNQCQACRL
KKCLQAGMNQDAVQNERQPRSTAQVHLDSMESNTESRPESLVAPPAPAGRSPRGPTPMSAARALGHHFMASLITAETCAKLEPEDADENIDVTSNDPEFPSSPYS
SSSPCGLDSIHETSARLLFMAVKWAKNLPVFSSLPFRDQVILLEEAWSELFLLGAIQWSLPLDSCPLLAPPEASAAGGAQGRLTLASMETRVLQETISRFRALAV
DPTEFACMKALVLFKPETRGLKDPEHVEALQDQSQVMLSQHSKAHHPSQPVRFGKLLLLLPSLRFITAERIELLFFRKTIGNTPMEKLLCDMFKN
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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 (0) | 1 (6) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Smith, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Kanduri C, 2016 | Finnish | - |  | | autism | 83 | - | - | - | 257 | 288 | 545 |
Linkage Studies Top