AutismKB 2.0

Evidence Details for ADAM28


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Basic Information Top
Gene Symbol:ADAM28 ( ADAM 28,ADAM23,MDC-L,MDC-Lm,MDC-Ls,MDCL,eMDC II,eMDCII )
Gene Full Name: ADAM metallopeptidase domain 28
Band: 8p21.2
Quick LinksEntrez ID:10863; OMIM: 606188; Uniprot ID:ADA28_HUMAN; ENSEMBL ID: ENSG00000042980; HGNC ID: 206
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ADAM28|10863|nucleotide
ATGTTGCAAGGTCTCCTGCCAGTCAGTCTCCTCCTCTCTGTTGCAGTAAGTGCTATAAAAGAACTCCCTGGGGTGAAGAAGTATGAAGTGGTTTATCCTATAAGA
CTTCATCCACTGCATAAAAGAGAGGCCAAAGAGCCAGAGCAACAGGAACAATTTGAAACTGAATTAAAGTATAAAATGACAATTAATGGAAAAATTGCAGTGCTT
TATTTGAAAAAAAACAAGAACCTCCTTGCACCAGGCTACACGGAAACATATTATAATTCCACTGGAAAGGAGATCACCACAAGCCCACAAATTATGGATGATTGT
TATTATCAAGGACATATTCTTAATGAAAAGGTTTCTGACGCTAGCATCAGCACATGTAGGGGTCTAAGGGGCTACTTCAGTCAGGGGGATCAAAGATACTTTATT
GAACCTTTAAGCCCCATACATCGGGATGGACAGGAGCATGCACTCTTCAAGTATAACCCTGATGAAAAGAATTATGACAGCACCTGTGGGATGGATGGTGTGTTG
TGGGCCCACGATTTGCAGCAGAACATTGCCCTACCTGCCACCAAACTAGTAAAATTGAAAGACAGGAAGGTTCAGGAACATGAGAAATACATAGAATATTATTTG
GTCCTGGATAATGGTGAGTTTAAAAGGTACAATGAGAATCAAGATGAGATCAGAAAGAGGGTATTTGAGATGGCTAATTATGTCAACATGCTTTATAAAAAGCTC
AATACTCATGTGGCCTTAGTTGGTATGGAAATCTGGACTGACAAGGATAAGATAAAGATAACCCCAAATGCAAGCTTCACCTTGGAGAATTTTTCTAAATGGAGG
GGGAGTGTTCTCTCAAGAAGAAAGCGTCATGATATTGCTCAGTTAATCACAGCAACAGAACTTGCTGGAACGACTGTGGGTCTTGCATTTATGTCTACAATGTGT
TCTCCTTATTCTGTTGGCGTTGTTCAGGACCACAGCGATAATCTTCTTAGAGTTGCAGGGACAATGGCACATGAAATGGGCCACAACTTTGGAATGTTTCATGAC
GACTATTCTTGCAAGTGTCCTTCTACAATATGTGTGATGGACAAAGCACTGAGCTTCTATATACCCACAGACTTCAGTTCCTGCAGCCGTCTCAGCTATGACAAG
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>ADAM28|10863|protein
MLQGLLPVSLLLSVAVSAIKELPGVKKYEVVYPIRLHPLHKREAKEPEQQEQFETELKYKMTINGKIAVLYLKKNKNLLAPGYTETYYNSTGKEITTSPQIMDDC
YYQGHILNEKVSDASISTCRGLRGYFSQGDQRYFIEPLSPIHRDGQEHALFKYNPDEKNYDSTCGMDGVLWAHDLQQNIALPATKLVKLKDRKVQEHEKYIEYYL
VLDNGEFKRYNENQDEIRKRVFEMANYVNMLYKKLNTHVALVGMEIWTDKDKIKITPNASFTLENFSKWRGSVLSRRKRHDIAQLITATELAGTTVGLAFMSTMC
SPYSVGVVQDHSDNLLRVAGTMAHEMGHNFGMFHDDYSCKCPSTICVMDKALSFYIPTDFSSCSRLSYDKFFEDKLSNCLFNAPLPTDIISTPICGNQLVEMGED
CDCGTSEECTNICCDAKTCKIKATFQCALGECCEKCQFKKAGMVCRPAKDECDLPEMCNGKSGNCPDDRFQVNGFPCHHGKGHCLMGTCPTLQEQCTELWGPGTE
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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) 0 (0) 0 (0) 0 (0) 0 (0) 4 (4)
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