AutismKB 2.0

Evidence Details for EHHADH


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Basic Information Top
Gene Symbol:EHHADH ( ECHD,L-PBE,LBFP,LBP,MGC120586,PBFE )
Gene Full Name: enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
Band: 3q27.2
Quick LinksEntrez ID:1962; OMIM: 607037; Uniprot ID:ECHP_HUMAN; ENSEMBL ID: ENSG00000113790; HGNC ID: 3247
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EHHADH|1962|nucleotide
ATGGCTTTCGGAGGGGGACTAGAGCTGGCCCTGGGCTGTCACTATAGGATTGCCCACGCAGAGGCTCAAGTTGGCTTACCAGAAGTTACACTGGGACTTCTCCCT
GGTGCAAGAGGAACCCAGCTTCTCCCCAGACTCACTGGAGTTCCTGCTGCACTTGACTTAATTACCTCAGGAAGACGTATTTTAGCAGATGAAGCACTCAAGCTG
GGCATTCTAGATAAAGTTGTAAACTCAGACCCGGTTGAAGAAGCAATCAGATTTGCTCAGAGAGTTTCAGATCAACCTCTAGAATCCCGTAGACTCTGCAACAAG
CCAATTCAGAGCTTGCCCAACATGGACAGCATTTTTAGTGAGGCCCTCTTGAAGATGCGGAGGCAGCACCCTGGGTGTCTTGCACAGGAGGCTTGTGTCCGTGCA
GTCCAGGCTGCTGTGCAGTATCCCTATGAAGTGGGCATCAAGAAGGAGGAGGAGCTGTTTCTATATCTTTTGCAATCAGGGCAGGCTAGAGCCCTGCAATATGCT
TTCTTCGCTGAAAGGAAAGCAAATAAGTGGTCAACTCCCTCCGGAGCATCGTGGAAAACAGCATCAGCGCGGCCTGTCTCCTCAGTTGGTGTTGTTGGCTTGGGA
ACAATGGGCCGAGGCATTGTCATTTCTTTTGCAAGGGCCAGGATTCCTGTGATTGCTGTAGACTCGGACAAAAACCAGCTAGCAACTGCAAACAAGATGATAACC
TCTGTCTTGGAAAAAGAAGCCTCCAAAATGCAACAGAGCGGCCACCCTTGGTCAGGACCAAAACCCAGGTTAACTTCATCTGTGAAGGAGCTTGGTGGTGTAGAT
TTAGTCATTGAAGCAGTATTTGAGGAAATGAGCCTGAAGAAGCAGGTCTTTGCTGAACTCTCAGCTGTGTGCAAACCAGAAGCATTTTTGTGCACTAATACTTCA
GCCCTGGATGTTGATGAGATTGCTTCTTCCACTGATCGTCCTCACTTGGTCATTGGCACCCACTTCTTTTCGCCAGCTCATGTCATGAAGTTGTTAGAGGTTATT
CCCAGCCAATACTCTTCCCCCACTACCATTGCCACTGTTATGAACTTATCAAAAAAGATTAAAAAGATTGGAGTCGTTGTAGGCAACTGTTTTGGATTTGTGGGG
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>EHHADH|1962|protein
MAFGGGLELALGCHYRIAHAEAQVGLPEVTLGLLPGARGTQLLPRLTGVPAALDLITSGRRILADEALKLGILDKVVNSDPVEEAIRFAQRVSDQPLESRRLCNK
PIQSLPNMDSIFSEALLKMRRQHPGCLAQEACVRAVQAAVQYPYEVGIKKEEELFLYLLQSGQARALQYAFFAERKANKWSTPSGASWKTASARPVSSVGVVGLG
TMGRGIVISFARARIPVIAVDSDKNQLATANKMITSVLEKEASKMQQSGHPWSGPKPRLTSSVKELGGVDLVIEAVFEEMSLKKQVFAELSAVCKPEAFLCTNTS
ALDVDEIASSTDRPHLVIGTHFFSPAHVMKLLEVIPSQYSSPTTIATVMNLSKKIKKIGVVVGNCFGFVGNRMLNPYYNQAYFLLEEGSKPEEVDQVLEEFGFKM
GPFRVSDLAGLDVGWKSRKGQGLTGPTLLPGTPARKRGNRRYCPIPDVLCELGRFGQKTGKGWYQYDKPLGRIHKPDPWLSKFLSRYRKTHHIEPRTISQDEILE
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Evidence summary Top

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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 (0) 0 (1) 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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top