AutismKB 2.0

Evidence Details for ESRRG


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Basic Information Top
Gene Symbol:ESRRG ( DKFZp781L1617,ERR3,ERRgamma,FLJ16023,KIAA0832,NR3B3 )
Gene Full Name: estrogen-related receptor gamma
Band: 1q41
Quick LinksEntrez ID:2104; OMIM: 602969; Uniprot ID:ERR3_HUMAN; ENSEMBL ID: ENSG00000196482; HGNC ID: 3474
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ESRRG|2104|nucleotide
ATGTCAAACAAAGATCGACACATTGATTCCAGCTGTTCGTCCTTCATCAAGACGGAACCTTCCAGCCCAGCCTCCCTGACGGACAGCGTCAACCACCACAGCCCT
GGTGGCTCTTCAGACGCCAGTGGGAGCTACAGTTCAACCATGAATGGCCATCAGAACGGACTTGACTCGCCACCTCTCTACCCTTCTGCTCCTATCCTGGGAGGT
AGTGGGCCTGTCAGGAAACTGTATGATGACTGCTCCAGCACCATTGTTGAAGATCCCCAGACCAAGTGTGAATACATGCTCAACTCGATGCCCAAGAGACTGTGT
TTAGTGTGTGGTGACATCGCTTCTGGGTACCACTATGGGGTAGCATCATGTGAAGCCTGCAAGGCATTCTTCAAGAGGACAATTCAAGGCAATATAGAATACAGC
TGCCCTGCCACGAATGAATGTGAAATCACAAAGCGCAGACGTAAATCCTGCCAGGCTTGCCGCTTCATGAAGTGTTTAAAAGTGGGCATGCTGAAAGAAGGGGTG
CGTCTTGACAGAGTACGTGGAGGTCGGCAGAAGTACAAGCGCAGGATAGATGCGGAGAACAGCCCATACCTGAACCCTCAGCTGGTTCAGCCAGCCAAAAAGCCA
TATAACAAGATTGTCTCACATTTGTTGGTGGCTGAACCGGAGAAGATCTATGCCATGCCTGACCCTACTGTCCCCGACAGTGACATCAAAGCCCTCACTACACTG
TGTGACTTGGCCGACCGAGAGTTGGTGGTTATCATTGGATGGGCGAAGCATATTCCAGGCTTCTCCACGCTGTCCCTGGCGGACCAGATGAGCCTTCTGCAGAGT
GCTTGGATGGAAATTTTGATCCTTGGTGTCGTATACCGGTCTCTTTCGTTTGAGGATGAACTTGTCTATGCAGACGATTATATAATGGACGAAGACCAGTCCAAA
TTAGCAGGCCTTCTTGATCTAAATAATGCTATCCTGCAGCTGGTAAAGAAATACAAGAGCATGAAGCTGGAAAAAGAAGAATTTGTCACCCTCAAAGCTATAGCT
CTTGCTAATTCAGACTCCATGCACATAGAAGATGTTGAAGCCGTTCAGAAGCTTCAGGATGTCTTACATGAAGCGCTGCAGGATTATGAAGCTGGCCAGCACATG
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>ESRRG|2104|protein
MSNKDRHIDSSCSSFIKTEPSSPASLTDSVNHHSPGGSSDASGSYSSTMNGHQNGLDSPPLYPSAPILGGSGPVRKLYDDCSSTIVEDPQTKCEYMLNSMPKRLC
LVCGDIASGYHYGVASCEACKAFFKRTIQGNIEYSCPATNECEITKRRRKSCQACRFMKCLKVGMLKEGVRLDRVRGGRQKYKRRIDAENSPYLNPQLVQPAKKP
YNKIVSHLLVAEPEKIYAMPDPTVPDSDIKALTTLCDLADRELVVIIGWAKHIPGFSTLSLADQMSLLQSAWMEILILGVVYRSLSFEDELVYADDYIMDEDQSK
LAGLLDLNNAILQLVKKYKSMKLEKEEFVTLKAIALANSDSMHIEDVEAVQKLQDVLHEALQDYEAGQHMEDPRRAGKMLMTLPLLRQTSTKAVQHFYNIKLEGK
VPMHKLFLEMLEAKV
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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 (1) 0 (0) 0 (0) 0 (0) 1 (1) 0 (2) 0 (0) 0 (1) 0 (0) 1 (5)
Syndromic Autism Gene Top
Genome-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 Top
Linkage Studies Top