AutismKB 2.0

Evidence Details for EBF2


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Basic Information Top
Gene Symbol:EBF2 ( COE2,EBF-2,FLJ11500,O/E-3,OE-3 )
Gene Full Name: early B-cell factor 2
Band: 8p21.2
Quick LinksEntrez ID:64641; OMIM: 609934; Uniprot ID:COE2_HUMAN; ENSEMBL ID: ENSG00000221818; HGNC ID: 19090
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EBF2|64641|nucleotide
ATGTTTGGAATTCAAGATACTTTAGGAAGAGGACCAACTCTGAAAGAGAAATCGCTGGGCGCGGAGATGGATTCGGTCAGGTCCTGGGTCCGGAATGTCGGAGTG
GTGGACGCTAATGTCGCCGCGCAGAGCGGGGTCGCCCTGTCCCGGGCCCACTTTGAGAAACAGCCTCCTTCCAACTTGAGGAAATCCAACTTCTTTCACTTCGTC
CTGGCGCTCTATGACAGGCAGGGCCAGCCGGTGGAGATCGAGCGGACGGCCTTCGTGGACTTTGTGGAGAATGACAAAGAACAAGGCAACGAGAAGACCAACAAC
GGCACTCACTACAAGTTACAGCTCCTCTACAGCAACGGTGTCCGCACGGAACAGGACCTCTATGTCAGGCTCATCGACTCGGTCACCAAGCAGCCCATCGCTTAC
GAGGGACAGAATAAGAATCCGGAAATGTGCCGAGTTCTCCTGACGCACGAAGTGATGTGTAGTCGATGCTGCGAAAAGAAAAGCTGTGGAAACCGAAATGAGACT
CCATCGGACCCAGTCATAATTGACAGATTCTTTTTAAAATTTTTCCTCAAGTGCAATCAGAATTGTTTGAAAACAGCAGGAAACCCAAGGGACATGAGACGGTTT
CAGGTTGTGTTGTCAACAACGGTGAATGTGGATGGACACGTCCTGGCTGTTTCTGACAACATGTTTGTTCATAACAACTCCAAGCATGGACGGAGAGCAAGAAGA
CTCGATCCATCGGAAGCTACCCCCTGCATCAAAGCCATTAGCCCGAGTGAAGGCTGGACCACAGGAGGAGCCATGGTCATCATCATCGGGGACAACTTCTTTGAT
GGTCTCCAAGTGGTGTTTGGGACTATGCTTGTATGGAGCGAGCTAATAACCCCTCATGCCATCAGAGTACAGACTCCTCCCCGGCACATCCCAGGCGTGGTAGAG
GTGACATTATCTTATAAATCTAAACAGTTCTGCAAAGGAGCCCCAGGAAGGTTCATTTACACAGCATTAAATGAACCCACCATAGACTATGGCTTCCAGAGACTG
CAGAAGGTCATCCCTAGGCATCCTGGAGATCCTGAGAGATTAGCTAAGGAGATGCTGTTGAAAAGAGCTGCAGATCTAGTGGAAGCTCTTTATGGCACACCACAC
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>EBF2|64641|protein
MFGIQDTLGRGPTLKEKSLGAEMDSVRSWVRNVGVVDANVAAQSGVALSRAHFEKQPPSNLRKSNFFHFVLALYDRQGQPVEIERTAFVDFVENDKEQGNEKTNN
GTHYKLQLLYSNGVRTEQDLYVRLIDSVTKQPIAYEGQNKNPEMCRVLLTHEVMCSRCCEKKSCGNRNETPSDPVIIDRFFLKFFLKCNQNCLKTAGNPRDMRRF
QVVLSTTVNVDGHVLAVSDNMFVHNNSKHGRRARRLDPSEATPCIKAISPSEGWTTGGAMVIIIGDNFFDGLQVVFGTMLVWSELITPHAIRVQTPPRHIPGVVE
VTLSYKSKQFCKGAPGRFIYTALNEPTIDYGFQRLQKVIPRHPGDPERLAKEMLLKRAADLVEALYGTPHNNQDIILKRAADIAEALYSVPRNPSQLPALSSSPA
HSGMMGINSYGSQLGVSISESTQGNNQGYIRNTSSISPRGYSSSSTPQQSNYSTSSNSMNGYSNVPMANLGVPGSPGFLNGSPTGSPYGIMSSSPTVGSSSTSSI
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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 (3) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 14 (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
Ozgen, 2009 - aCGH, SNP microarrayASD 55 - - - - - -
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top