AutismKB 2.0

Evidence Details for GDF2


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Basic Information Top
Gene Symbol:GDF2 ( BMP-9,BMP9 )
Gene Full Name: growth differentiation factor 2
Band: 10q11.22
Quick LinksEntrez ID:2658; OMIM: 605120; Uniprot ID:GDF2_HUMAN; ENSEMBL ID: ENSG00000128802; HGNC ID: 4217
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GDF2|2658|nucleotide
ATGTGTCCTGGGGCACTGTGGGTGGCCCTGCCCCTGCTGTCCCTGCTGGCTGGCTCCCTACAGGGGAAGCCACTGCAGAGCTGGGGACGAGGGTCTGCTGGGGGA
AACGCCCACAGCCCACTGGGGGTGCCTGGAGGTGGGCTGCCTGAGCACACCTTCAACCTGAAGATGTTTCTGGAGAACGTGAAGGTGGATTTCCTGCGCAGCCTT
AACCTGAGTGGGGTCCCTTCGCAGGACAAAACCAGGGTGGAGCCGCCGCAGTACATGATTGACCTGTACAACAGGTACACGTCCGATAAGTCGACTACGCCAGCG
TCCAACATTGTGCGGAGCTTCAGCATGGAAGATGCCATCTCCATAACTGCCACAGAGGACTTCCCCTTCCAGAAGCACATCTTGCTCTTCAACATCTCCATTCCT
AGGCATGAGCAGATCACCAGAGCTGAGCTCCGACTCTATGTCTCCTGTCAAAATCACGTGGACCCCTCTCATGACCTGAAAGGAAGCGTGGTCATTTATGATGTT
CTGGATGGAACAGATGCCTGGGATAGTGCTACAGAGACCAAGACCTTCCTGGTGTCCCAGGACATTCAGGATGAGGGCTGGGAGACCTTGGAAGTGTCCAGCGCC
GTGAAGCGCTGGGTCCGGTCCGACTCCACCAAGAGCAAAAATAAGCTGGAAGTGACTGTGGAGAGCCACAGGAAGGGCTGCGACACGCTGGACATCAGTGTCCCC
CCAGGTTCCAGAAACCTGCCCTTCTTTGTTGTCTTCTCCAATGACCACAGCAGTGGGACCAAGGAGACCAGGCTGGAGCTGAGGGAGATGATCAGCCATGAACAA
GAGAGCGTGCTCAAGAAGCTGTCCAAGGACGGCTCCACAGAGGCAGGTGAGAGCAGTCACGAGGAGGACACGGATGGCCACGTGGCTGCGGGGTCGACTTTAGCC
AGGCGGAAAAGGAGCGCCGGGGCTGGCAGCCACTGTCAAAAGACCTCCCTGCGGGTAAACTTCGAGGACATCGGCTGGGACAGCTGGATCATTGCACCCAAGGAG
TATGAAGCCTACGAGTGTAAGGGCGGCTGCTTCTTCCCCTTGGCTGACGATGTGACGCCGACGAAACACGCTATCGTGCAGACCCTGGTGCATCTCAAGTTCCCC
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>GDF2|2658|protein
MCPGALWVALPLLSLLAGSLQGKPLQSWGRGSAGGNAHSPLGVPGGGLPEHTFNLKMFLENVKVDFLRSLNLSGVPSQDKTRVEPPQYMIDLYNRYTSDKSTTPA
SNIVRSFSMEDAISITATEDFPFQKHILLFNISIPRHEQITRAELRLYVSCQNHVDPSHDLKGSVVIYDVLDGTDAWDSATETKTFLVSQDIQDEGWETLEVSSA
VKRWVRSDSTKSKNKLEVTVESHRKGCDTLDISVPPGSRNLPFFVVFSNDHSSGTKETRLELREMISHEQESVLKKLSKDGSTEAGESSHEEDTDGHVAAGSTLA
RRKRSAGAGSHCQKTSLRVNFEDIGWDSWIIAPKEYEAYECKGGCFFPLADDVTPTKHAIVQTLVHLKFPTKVGKACCVPTKLSPISVLYKDDMGVPTLKYHYEG
MSVAECGCR
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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 (2) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
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
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top