AutismKB 2.0

Evidence Details for EFHA2


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Basic Information Top
Gene Symbol:EFHA2 ( DKFZp313A0139 )
Gene Full Name: EF-hand domain family, member A2
Band: 8p22
Quick LinksEntrez ID:286097; OMIM: 610633; Uniprot ID:EFHA2_HUMAN; ENSEMBL ID: ENSG00000155970; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EFHA2|286097|nucleotide
ATGGCTGCGCTGCGAAGGCTCTTGTGGCCGCCACCCCGGGTGTCTCCTCCACTCTGCGCTCACCAGCCCCTCCTTGGGCCGTGGGGGCGGCCTGCGGTGACCACC
CTGGGCCTTCCTGGCCGGCCCTTCTCCTCCCGAGAGGATGAGGAGAGGGCTGTGGCGGAGGCGGCATGGAGGCGGCGGCGGCGCTGGGGGGAGCTGAGCGTGGCG
GCGGCGGCCGGCGGGGGGCTGGTCGGCCTGGTATGCTACCAGCTGTACGGGGACCCCAGGGCCGGCTCGCCGGCGACCGGGCGACCCTCAAAGAGCGCGGCCACG
GAGCCCGAGGACCCGCCCCGCGGCCGGGGGATGCTGCCCATCCCAGTGGCGGCTGCCAAGGAGACGGTTGCTATTGGCAGAACAGACATTGAAGACTTAGACCTT
TATGCCACATCTCGGGAGAGGCGATTTCGTTTATTTGCTTCTATAGAATGTGAAGGGCAGTTATTCATGACTCCGTATGATTTTATTTTGGCTGTTACAACAGAT
GAGCCCAAAGTTGCCAAAACTTGGAAGTCACTTTCCAAACAGGAATTAAATCAAATGCTCGCAGAAACACCACCAGTTTGGAAAGGCTCATCGAAGCTATTTCGA
AATCTTAAAGAAAAAGGTGTGATTTCTTACACAGAATATCTTTTTCTTTTATGTATTTTAACAAAGCCACATGCAGGGTTCAGAATAGCTTTCAACATGTTTGAC
ACTGATGGCAATGAGATGGTGGATAAAAAAGAGTTTTTGGTGCTTCAAGAGATATTCAGGAAAAAAAATGAAAAGAGAGAAATTAAAGGAGATGAAGAAAAGCGT
GCAATGCTGCGTCTTCAACTTTATGGATACCATTCTCCTACTAATAGTGTACTTAAAACAGATGCTGAGGAACTTGTCTCCAGAAGCTATTGGGATACACTGAGA
CGTAACACAAGCCAAGCACTGTTTTCAGACCTCGCAGAGCGTGCTGATGACATCACAAGTTTAGTAACAGATACTACACTTCTTGTACACTTTTTTGGAAAGAAA
GGAAAAGCTGAGCTCAACTTTGAAGATTTTTATAGATTCATGGATAATCTCCAAACAGAAGTTCTAGAAATAGAATTCCTTTCCTACTCAAATGGAATGAATACC
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>EFHA2|286097|protein
MAALRRLLWPPPRVSPPLCAHQPLLGPWGRPAVTTLGLPGRPFSSREDEERAVAEAAWRRRRRWGELSVAAAAGGGLVGLVCYQLYGDPRAGSPATGRPSKSAAT
EPEDPPRGRGMLPIPVAAAKETVAIGRTDIEDLDLYATSRERRFRLFASIECEGQLFMTPYDFILAVTTDEPKVAKTWKSLSKQELNQMLAETPPVWKGSSKLFR
NLKEKGVISYTEYLFLLCILTKPHAGFRIAFNMFDTDGNEMVDKKEFLVLQEIFRKKNEKREIKGDEEKRAMLRLQLYGYHSPTNSVLKTDAEELVSRSYWDTLR
RNTSQALFSDLAERADDITSLVTDTTLLVHFFGKKGKAELNFEDFYRFMDNLQTEVLEIEFLSYSNGMNTISEEDFAHILLRYTNVENTSVFLENVRYSIPEEKG
ITFDEFRSFFQFLNNLEDFAIALNMYNFASRSIGQDEFKRAVYVATGLKFSPHLVNTVFKIFDVDKDDQLSYKEFIGIMKDRLHRGFRGYKTVQKYPTFKSCLKK
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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) 1 (4) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (5)
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
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Ozgen, 2009 - aCGH, SNP microarrayASD 55 - - - - - -
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top