AutismKB 2.0

Evidence Details for EFS


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Basic Information Top
Gene Symbol:EFS ( CAS3,CASS3,EFS1,EFS2,HEFS,SIN )
Gene Full Name: embryonal Fyn-associated substrate
Band: 14q11.2
Quick LinksEntrez ID:10278; OMIM: 609906; Uniprot ID:EFS_HUMAN; ENSEMBL ID: ENSG00000100842; HGNC ID: 16898
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EFS|10278|nucleotide
ATGGCCATTGCCACGTCGACCCAGCTGGCCCGGGCACTGTATGACAACACCGCTGAGTCCCCCCAGGAGCTGTCCTTCCGCCGAGGGGATGTCCTACGGGTCCTG
CAGAGAGAGGGCGCTGGTGGACTGGACGGCTGGTGCCTCTGCTCCCTACACGGCCAGCAGGGCATTGTGCCCGCCAACAGGGTGAAGCTCTTGCCTGCTGGCCCA
GCACCCAAGCCCAGCCTCTCTCCTGCGTCCCCAGCCCAGCCTGGCTCACCATATCCAGCCCCAGATCACAGCAATGAGGACCAGGAGGTGTATGTGGTGCCGCCC
CCAGCTCGGCCCTGTCCAACCTCAGGACCTCCAGCTGGACCTTGCCCACCCTCTCCTGACCTCATCTACAAAATCCCCAGAGCTAGTGGGACCCAGCTGGCTGCT
CCCAGAGATGCCTTGGAGGTCTACGATGTGCCCCCCACCGCCCTCCGGGTGCCCTCCAGTGGCCCCTATGACTGCCCTGCCTCCTTTTCCCACCCTCTGACCCGG
GTTGCCCCGCAGCCCCCTGGAGAGGATGATGCTCCCTATGATGTGCCTCTGACCCCAAAGCCACCTGCAGAGCTGGAACCAGATCTGGAGTGGGAAGGAGGCCGG
GAGCCGGGGCCCCCCATCTATGCTGCCCCCTCCAACCTGAAACGAGCGTCAGCCTTACTCAATTTGTATGAAGCACCCGAGGAACTGCTGGCAGACGGGGAGGGC
GGGGGCACTGATGAGGGGATCTACGATGTGCCTCTGCTGGGGCCAGAGGCTCCCCCTTCTCCAGAGCCCCCTGGAGCCTTGGCCTCCCATGACCAGGACACCCTG
GCCCAGCTTCTGGCCAGAAGCCCCCCACCCCCACACAGGCCCCGGCTCCCCTCAGCTGAGAGCCTGTCCCGCCGCCCTCTGCCTGCCCTGCCTGTCCCTGAGGCC
CCCAGCCCCTCCCCAGTGCCCTCTCCTGCCCCAGGCCGGAAGGGCAGCATCCAGGACCGGCCTCTGCCCCCACCCCCACCCCGCCTGCCTGGTTATGGAGGCCCC
AAGGTCGAGGGGGATCCAGAGGGCAGGGAGATGGAGGATGACCCAGCAGGACACCACAATGAGTACGAGGGCATTCCGATGGCCGAGGAGTATGACTATGTCCAC
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>EFS|10278|protein
MAIATSTQLARALYDNTAESPQELSFRRGDVLRVLQREGAGGLDGWCLCSLHGQQGIVPANRVKLLPAGPAPKPSLSPASPAQPGSPYPAPDHSNEDQEVYVVPP
PARPCPTSGPPAGPCPPSPDLIYKIPRASGTQLAAPRDALEVYDVPPTALRVPSSGPYDCPASFSHPLTRVAPQPPGEDDAPYDVPLTPKPPAELEPDLEWEGGR
EPGPPIYAAPSNLKRASALLNLYEAPEELLADGEGGGTDEGIYDVPLLGPEAPPSPEPPGALASHDQDTLAQLLARSPPPPHRPRLPSAESLSRRPLPALPVPEA
PSPSPVPSPAPGRKGSIQDRPLPPPPPRLPGYGGPKVEGDPEGREMEDDPAGHHNEYEGIPMAEEYDYVHLKGMDKAQGSRPPDQACTGDPELPERGMPAPQEAL
SPGEPLVVSTGDLQLLYFYAGQCQSHYSALQAAVAALMSSTQANQPPRLFVPHSKRVVVAAHRLVFVGDTLGRLAASAPLRAQVRAAGTALGQALRATVLAVKGA
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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 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top