AutismKB 2.0

Evidence Details for JAG2


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Basic Information Top
Gene Symbol:JAG2 ( HJ2,SER2 )
Gene Full Name: jagged 2
Band: 14q32.33
Quick LinksEntrez ID:3714; OMIM: 602570; Uniprot ID:JAG2_HUMAN; ENSEMBL ID: ENSG00000184916; HGNC ID: 6189
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>JAG2|3714|nucleotide
ATGCGGGCGCAGGGCCGGGGGCGCCTTCCCCGGCGGCTGCTGCTGCTGCTGGCGCTCTGGGTGCAGGCGGCGCGGCCCATGGGCTATTTCGAGCTGCAGCTGAGC
GCGCTGCGGAACGTGAACGGGGAGCTGCTGAGCGGCGCCTGCTGTGACGGCGACGGCCGGACAACGCGCGCGGGGGGCTGCGGCCACGACGAGTGCGACACGTAC
GTGCGCGTGTGCCTTAAGGAGTACCAGGCCAAGGTGACGCCCACGGGGCCCTGCAGCTACGGCCACGGCGCCACGCCCGTGCTGGGCGGCAACTCCTTCTACCTG
CCGCCGGCGGGCGCTGCGGGGGACCGAGCGCGGGCGCGGGCCCGGGCCGGCGGCGACCAGGACCCGGGCCTCGTCGTCATCCCCTTCCAGTTCGCCTGGCCGCGC
TCCTTTACCCTCATCGTGGAGGCCTGGGACTGGGACAACGATACCACCCCGAATGAGGAGCTGCTGATCGAGCGAGTGTCGCATGCCGGCATGATCAACCCGGAG
GACCGCTGGAAGAGCCTGCACTTCAGCGGCCACGTGGCGCACCTGGAGCTGCAGATCCGCGTGCGCTGCGACGAGAACTACTACAGCGCCACTTGCAACAAGTTC
TGCCGGCCCCGCAACGACTTTTTCGGCCACTACACCTGCGACCAGTACGGCAACAAGGCCTGCATGGACGGCTGGATGGGCAAGGAGTGCAAGGAAGCTGTGTGT
AAACAAGGGTGTAATTTGCTCCACGGGGGATGCACCGTGCCTGGGGAGTGCAGGTGCAGCTACGGCTGGCAAGGGAGGTTCTGCGATGAGTGTGTCCCCTACCCC
GGCTGCGTGCATGGCAGTTGTGTGGAGCCCTGGCAGTGCAACTGTGAGACCAACTGGGGCGGCCTGCTCTGTGACAAAGACCTGAACTACTGTGGCAGCCACCAC
CCCTGCACCAACGGAGGCACGTGCATCAACGCCGAGCCTGACCAGTACCGCTGCACCTGCCCTGACGGCTACTCGGGCAGGAACTGTGAGAAGGCTGAGCACGCC
TGCACCTCCAACCCGTGTGCCAACGGGGGCTCTTGCCATGAGGTGCCGTCCGGCTTCGAATGCCACTGCCCATCGGGCTGGAGCGGGCCCACCTGTGCCCTTGAC
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>JAG2|3714|protein
MRAQGRGRLPRRLLLLLALWVQAARPMGYFELQLSALRNVNGELLSGACCDGDGRTTRAGGCGHDECDTYVRVCLKEYQAKVTPTGPCSYGHGATPVLGGNSFYL
PPAGAAGDRARARARAGGDQDPGLVVIPFQFAWPRSFTLIVEAWDWDNDTTPNEELLIERVSHAGMINPEDRWKSLHFSGHVAHLELQIRVRCDENYYSATCNKF
CRPRNDFFGHYTCDQYGNKACMDGWMGKECKEAVCKQGCNLLHGGCTVPGECRCSYGWQGRFCDECVPYPGCVHGSCVEPWQCNCETNWGGLLCDKDLNYCGSHH
PCTNGGTCINAEPDQYRCTCPDGYSGRNCEKAEHACTSNPCANGGSCHEVPSGFECHCPSGWSGPTCALDIDECASNPCAAGGTCVDQVDGFECICPEQWVGATC
QLDANECEGKPCLNAFSCKNLIGGYYCDCIPGWKGINCHINVNDCRGQCQHGGTCKDLVNGYQCVCPRGFGGRHCELERDECASSPCHSGGLCEDLADGFHCHCP
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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 - - - - -
Linkage Studies Top