AutismKB 2.0

Evidence Details for ENO3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ENO3 ( GSD13,MSE )
Gene Full Name: enolase 3 (beta, muscle)
Band: 17p13.2
Quick LinksEntrez ID:2027; OMIM: 131370; Uniprot ID:ENOB_HUMAN; ENSEMBL ID: ENSG00000108515; HGNC ID: 3354
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ENO3|2027|nucleotide
ATGGCCATGCAGAAAATCTTTGCCCGGGAAATCTTGGACTCCAGGGGCAACCCCACGGTGGAGGTGGACCTGCACACGGCCAAGGGCCGATTCCGAGCAGCTGTG
CCCAGTGGGGCTTCCACGGGTATCTATGAGGCTCTGGAACTAAGAGACGGAGACAAAGGCCGCTACCTGGGGAAAGCCAAGTTTGGGGCCAATGCCATCCTGGGC
GTGTCCTTGGCCGTGTGTAAGGCGGGAGCAGCTGAGAAGGGGGTCCCCCTGTACCGCCACATCGCAGATCTCGCTGGGAACCCTGACCTCATACTCCCAGTGCCA
GCCTTCAATGTGATCAACGGGGGCTCCCATGCTGGAAACAAGCTGGCCATGCAGGAGTTCATGATTCTGCCTGTGGGAGCCAGCTCCTTCAAGGAAGCCATGCGC
ATTGGCGCCGAGGTCTACCACCACCTCAAGGGGGTCATCAAGGCCAAGTATGGGAAGGATGCCACCAATGTGGGTGATGAAGGTGGCTTCGCACCCAACATCCTG
GAGAACAATGAGGCCCTGGAGCTGCTGAAGACGGCCATCCAGGCGGCTGGTTACCCAGACAAGGTGGTGATCGGCATGGATGTGGCAGCATCTGAGTTCTATCGC
AATGGGAAGTACGATCTTGACTTCAAGTCGCCTGATGATCCCGCACGGCACATCACTGGGGAGAAGCTCGGAGAGCTGTATAAGAGCTTTATCAAGAACTATCCT
GTGGTCTCCATCGAAGACCCCTTTGACCAGGATGACTGGGCCACTTGGACCTCCTTCCTCTCGGGGGTGAACATCCAGATTGTGGGGGATGACTTGACAGTCACC
AACCCCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGAAGGTCAACCAGATCGGCTCGGTGACCGAATCGATCCAGGCGTGCAAA
CTGGCTCAGTCTAATGGCTGGGGGGTGATGGTGAGCCACCGCTCTGGGGAGACTGAGGACACATTCATTGCTGACCTTGTGGTGGGGCTCTGCACAGGACAGATC
AAGACTGGCGCCCCCTGCCGCTCGGAGCGTCTGGCCAAATACAACCAACTCATGAGGATCGAGGAGGCTCTTGGGGACAAGGCAATCTTTGCTGGACGCAAGTTC
Show »

>ENO3|2027|protein
MAMQKIFAREILDSRGNPTVEVDLHTAKGRFRAAVPSGASTGIYEALELRDGDKGRYLGKAKFGANAILGVSLAVCKAGAAEKGVPLYRHIADLAGNPDLILPVP
AFNVINGGSHAGNKLAMQEFMILPVGASSFKEAMRIGAEVYHHLKGVIKAKYGKDATNVGDEGGFAPNILENNEALELLKTAIQAAGYPDKVVIGMDVAASEFYR
NGKYDLDFKSPDDPARHITGEKLGELYKSFIKNYPVVSIEDPFDQDDWATWTSFLSGVNIQIVGDDLTVTNPKRIAQAVEKKACNCLLLKVNQIGSVTESIQACK
LAQSNGWGVMVSHRSGETEDTFIADLVVGLCTGQIKTGAPCRSERLAKYNQLMRIEEALGDKAIFAGRKFRNPKAK

Show »

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 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 2 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top