AutismKB 2.0

Evidence Details for GGNBP2


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Basic Information Top
Gene Symbol:GGNBP2 ( DIF-3,DIF3,FLJ21230,FLJ22561,FLJ42090,LCRG1,LZK1,ZFP403,ZNF403 )
Gene Full Name: gametogenetin binding protein 2
Band: 17q12
Quick LinksEntrez ID:79893; OMIM: 612275; Uniprot ID:GGNB2_HUMAN; ENSEMBL ID: ENSG00000005955; HGNC ID: 19357
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GGNBP2|79893|nucleotide
ATGGCGCGACTCGTGGCAGTGTGCAGGGACGGGGAGGAGGAGTTCCCCTTCGAGAGGAGGCAGATTCCCCTCTACATAGACGACACCCTGACGATGGTGATGGAA
TTTCCTGATAATGTGTTAAATCTCGATGGACATCAGAATAATGGTGCACAGCTAAAGCAGTTCATTCAGCGACATGGTATGCTTAAGCAACAGGATCTAAGTATT
GCCATGGTGGTGACATCACGCGAAGTCCTGAGTGCACTTTCTCAGCTTGTCCCATGTGTTGGTTGTCGTCGCAGTGTGGAGCGTCTCTTTTCCCAGCTTGTAGAG
TCTGGAAATCCTGCTCTTGAACCCCTAACAGTAGGGCCCAAGGGAGTCCTGTCTGTAACTAGAAGCTGCATGACTGATGCAAAGAAGCTTTATACATTATTTTAT
GTACATGGGTCCAAACTAAATGACATGATAGATGCTATTCCAAAAAGTAAGAAGAATAAGAGATGTCAGTTGCACTCCTTAGATACGCACAAGCCAAAACCTTTG
GGAGGTTGTTGGATGGATGTATGGGAACTAATGTCGCAGGAATGCAGGGATGAAGTAGTTTTAATTGACTCGAGTTGTCTTTTAGAAACACTAGAAACATATCTG
CGAAAACACAGGTTTTGCACTGATTGCAAAAATAAAGTCCTCCGAGCATACAATATCCTTATTGGTGAACTTGACTGCAGCAAAGAAAAGGGCTACTGTGCTGCA
CTTTATGAAGGCTTGCGGTGCTGTCCACATGAACGACACATACATGTTTGCTGTGAAACAGACTTCATTGCACATCTTTTGGGTCGTGCTGAGCCAGAGTTCGCA
GGAGGGCGAAGAGAAAGGCATGCAAAGACAATAGATATAGCTCAAGAAGAAGTTCTGACCTGCTTGGGAATTCATCTTTATGAAAGACTGCATCGAATCTGGCAG
AAGCTACGGGCAGAAGAGCAGACATGGCAGATGCTTTTCTATCTTGGTGTTGATGCTTTACGCAAGAGTTTTGAGATGACCGTGGAAAAAGTACAGGGTATTAGC
AGATTGGAACAACTTTGTGAGGAATTTTCAGAAGAGGAACGAGTAAGAGAACTCAAGCAAGAAAAGAAACGCCAAAAACGGAAGAATAGACGAAAAAATAAGTGT
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>GGNBP2|79893|protein
MARLVAVCRDGEEEFPFERRQIPLYIDDTLTMVMEFPDNVLNLDGHQNNGAQLKQFIQRHGMLKQQDLSIAMVVTSREVLSALSQLVPCVGCRRSVERLFSQLVE
SGNPALEPLTVGPKGVLSVTRSCMTDAKKLYTLFYVHGSKLNDMIDAIPKSKKNKRCQLHSLDTHKPKPLGGCWMDVWELMSQECRDEVVLIDSSCLLETLETYL
RKHRFCTDCKNKVLRAYNILIGELDCSKEKGYCAALYEGLRCCPHERHIHVCCETDFIAHLLGRAEPEFAGGRRERHAKTIDIAQEEVLTCLGIHLYERLHRIWQ
KLRAEEQTWQMLFYLGVDALRKSFEMTVEKVQGISRLEQLCEEFSEEERVRELKQEKKRQKRKNRRKNKCVCDIPTPLQTADEKEVSQEKETDFIENSSCKACGS
TEDGNTCVEVIVTNENTSCTCPSSGNLLGSPKIKKGLSPHCNGSDCGYSSSMEGSETGSREGSDVACTEGICNHDEHGDDSCVHHCEDKEDDGDSCVECWANSEE
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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) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (6)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Roberts JL, 2014 - aCGH;FISH--autism - - - - 1 - 1
Kanduri C, 2016 Finnish -autism 83 - - - 257 288 545
Linkage Studies Top