Evidence Details for ESRRB
Basic Information Top
| Gene Symbol: | ESRRB ( DFNB35,ERR2,ERRb,ESRL2,NR3B2 ) |
|---|---|
| Gene Full Name: | estrogen-related receptor beta |
| Band: | 14q24.3 |
| Quick Links | Entrez ID:2103; OMIM: 602167; Uniprot ID:A2VDJ2_HUMAN; ENSEMBL ID: ENSG00000119715; HGNC ID: 3473 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ESRRB|2103|nucleotide
ATGTCCTCGGACGACAGGCACCTGGGCTCCAGCTGCGGCTCCTTCATCAAGACTGAGCCGTCCAGCCCGTCCTCGGGCATCGATGCCCTCAGCCACCACAGCCCC
AGTGGCTCGTCCGACGCCAGCGGCGGCTTTGGCCTGGCCCTGGGCACCCACGCCAACGGTCTGGACTCGCCACCCATGTTTGCAGGCGCCGGGCTGGGAGGCACC
CCATGCCGCAAGAGCTACGAGGACTGTGCCAGCGGCATCATGGAGGACTCGGCCATCAAGTGCGAGTACATGCTCAACGCCATCCCCAAGCGCCTGTGCCTCGTG
TGCGGGGACATTGCCTCTGGCTACCACTACGGCGTGGCCTCCTGCGAGGCTTGCAAGGCCTTCTTCAAGAGGACTATCCAAGGGAACATTGAGTACAGCTGCCCG
GCCACCAACGAGTGCGAGATCACCAAACGGAGGCGCAAGTCCTGCCAGGCCTGCCGCTTCATGAAATGCCTCAAAGTGGGGATGCTGAAGGAAGGTGTGCGCCTT
GATCGAGTGCGTGGAGGCCGTCAGAAATACAAGCGACGGCTGGACTCAGAGAGCAGCCCATACCTGAGCTTACAAATTTCTCCACCTGCTAAAAAGCCATTGACC
AAGATTGTCTCATACCTACTGGTGGCTGAGCCGGACAAGCTCTATGCCATGCCTCCCCCTGGTATGCCTGAGGGGGACATCAAGGCCCTGACCACTCTCTGTGAC
CTGGCAGACCGAGAGCTTGTGGTCATCATTGGCTGGGCCAAGCACATCCCAGGCTTCTCAAGCCTCTCCCTGGGGGACCAGATGAGCCTGCTGCAGAGTGCCTGG
ATGGAAATCCTCATCCTGGGCATCGTGTACCGCTCGCTGCCCTATGACGACAAGCTGGTGTACGCTGAGGACTACATCATGGATGAGGAGCACTCCCGCCTCGCG
GGGCTGCTGGAGCTCTACCGGGCCATCCTGCAGCTGGTACGCAGGTACAAGAAGCTCAAGGTGGAGAAGGAGGAGTTTGTGACGCTCAAGGCCCTGGCCCTCGCC
AACTCCGATTCCATGTACATCGAGGATCTAGAGGCTGTCCAGAAGCTGCAGGACCTGCTGCACGAGGCACTGCAGGACTACGAGCTGAGCCAGCGCCATGAGGAG
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ATGTCCTCGGACGACAGGCACCTGGGCTCCAGCTGCGGCTCCTTCATCAAGACTGAGCCGTCCAGCCCGTCCTCGGGCATCGATGCCCTCAGCCACCACAGCCCC
AGTGGCTCGTCCGACGCCAGCGGCGGCTTTGGCCTGGCCCTGGGCACCCACGCCAACGGTCTGGACTCGCCACCCATGTTTGCAGGCGCCGGGCTGGGAGGCACC
CCATGCCGCAAGAGCTACGAGGACTGTGCCAGCGGCATCATGGAGGACTCGGCCATCAAGTGCGAGTACATGCTCAACGCCATCCCCAAGCGCCTGTGCCTCGTG
TGCGGGGACATTGCCTCTGGCTACCACTACGGCGTGGCCTCCTGCGAGGCTTGCAAGGCCTTCTTCAAGAGGACTATCCAAGGGAACATTGAGTACAGCTGCCCG
GCCACCAACGAGTGCGAGATCACCAAACGGAGGCGCAAGTCCTGCCAGGCCTGCCGCTTCATGAAATGCCTCAAAGTGGGGATGCTGAAGGAAGGTGTGCGCCTT
GATCGAGTGCGTGGAGGCCGTCAGAAATACAAGCGACGGCTGGACTCAGAGAGCAGCCCATACCTGAGCTTACAAATTTCTCCACCTGCTAAAAAGCCATTGACC
AAGATTGTCTCATACCTACTGGTGGCTGAGCCGGACAAGCTCTATGCCATGCCTCCCCCTGGTATGCCTGAGGGGGACATCAAGGCCCTGACCACTCTCTGTGAC
CTGGCAGACCGAGAGCTTGTGGTCATCATTGGCTGGGCCAAGCACATCCCAGGCTTCTCAAGCCTCTCCCTGGGGGACCAGATGAGCCTGCTGCAGAGTGCCTGG
ATGGAAATCCTCATCCTGGGCATCGTGTACCGCTCGCTGCCCTATGACGACAAGCTGGTGTACGCTGAGGACTACATCATGGATGAGGAGCACTCCCGCCTCGCG
GGGCTGCTGGAGCTCTACCGGGCCATCCTGCAGCTGGTACGCAGGTACAAGAAGCTCAAGGTGGAGAAGGAGGAGTTTGTGACGCTCAAGGCCCTGGCCCTCGCC
AACTCCGATTCCATGTACATCGAGGATCTAGAGGCTGTCCAGAAGCTGCAGGACCTGCTGCACGAGGCACTGCAGGACTACGAGCTGAGCCAGCGCCATGAGGAG
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>ESRRB|2103|protein
MSSDDRHLGSSCGSFIKTEPSSPSSGIDALSHHSPSGSSDASGGFGLALGTHANGLDSPPMFAGAGLGGTPCRKSYEDCASGIMEDSAIKCEYMLNAIPKRLCLV
CGDIASGYHYGVASCEACKAFFKRTIQGNIEYSCPATNECEITKRRRKSCQACRFMKCLKVGMLKEGVRLDRVRGGRQKYKRRLDSESSPYLSLQISPPAKKPLT
KIVSYLLVAEPDKLYAMPPPGMPEGDIKALTTLCDLADRELVVIIGWAKHIPGFSSLSLGDQMSLLQSAWMEILILGIVYRSLPYDDKLVYAEDYIMDEEHSRLA
GLLELYRAILQLVRRYKKLKVEKEEFVTLKALALANSDSMYIEDLEAVQKLQDLLHEALQDYELSQRHEEPWRTGKLLLTLPLLRQTAAKAVQHFYSVKLQGKVP
MHKLFLEMLEAKVGQEQLRGSPKDERMSSHDGKCPFQSAAFTSRDQSNSPGIPNPRPSSPTPLNERGRQISPSTRTPGGQGKHLWLTM
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MSSDDRHLGSSCGSFIKTEPSSPSSGIDALSHHSPSGSSDASGGFGLALGTHANGLDSPPMFAGAGLGGTPCRKSYEDCASGIMEDSAIKCEYMLNAIPKRLCLV
CGDIASGYHYGVASCEACKAFFKRTIQGNIEYSCPATNECEITKRRRKSCQACRFMKCLKVGMLKEGVRLDRVRGGRQKYKRRLDSESSPYLSLQISPPAKKPLT
KIVSYLLVAEPDKLYAMPPPGMPEGDIKALTTLCDLADRELVVIIGWAKHIPGFSSLSLGDQMSLLQSAWMEILILGIVYRSLPYDDKLVYAEDYIMDEEHSRLA
GLLELYRAILQLVRRYKKLKVEKEEFVTLKALALANSDSMYIEDLEAVQKLQDLLHEALQDYELSQRHEEPWRTGKLLLTLPLLRQTAAKAVQHFYSVKLQGKVP
MHKLFLEMLEAKVGQEQLRGSPKDERMSSHDGKCPFQSAAFTSRDQSNSPGIPNPRPSSPTPLNERGRQISPSTRTPGGQGKHLWLTM
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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 | 2 (2) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 1 (1) | 0 (0) | 0 (0) | 11 (5) |
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 | |||||||||||
| Wang, 2009_1 | Discovery | Illumina HumanHap550 BeadChip | 780 | 1299 (-) |  | | ASD | - - |
- - | ||
Case Control Based Association Studies: 1
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| CAUCASIAN | ||||||||||||
| Wang, 2009_2 | Discovery | Illumina HumanHap550 BeadChip | 1204 (-) | | | ASD | 10.3±6.6 - |
10.9±6.7 | 6491 (-) |
8.8±5.4 - | ||
CNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | | | autism | - | - | - | - | 12 | 44 | 56 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS 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| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Dou Y, 2017 | - | 2361 | 230 | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and |
NGS 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.