AutismKB 2.0

Evidence Details for DDC


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Basic Information Top
Gene Symbol:DDC ( AADC )
Gene Full Name: dopa decarboxylase (aromatic L-amino acid decarboxylase)
Band: 7p12.2-p12.1
Quick LinksEntrez ID:1644; OMIM: 107930; Uniprot ID:DDC_HUMAN; ENSEMBL ID: ENSG00000132437; HGNC ID: 2719
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DDC|1644|nucleotide
ATGAACGCAAGTGAATTCCGAAGGAGAGGGAAGGAGATGGTGGATTACGTGGCCAACTACATGGAAGGCATTGAGGGACGCCAGGTCTACCCTGACGTGGAGCCC
GGGTACCTGCGGCCGCTGATCCCTGCCGCTGCCCCTCAGGAGCCAGACACGTTTGAGGACATCATCAACGACGTTGAGAAGATAATCATGCCTGGGGTGACGCAC
TGGCACAGCCCCTACTTCTTCGCCTACTTCCCCACTGCCAGCTCGTACCCGGCCATGCTTGCGGACATGCTGTGCGGGGCCATTGGCTGCATCGGCTTCTCCTGG
GCGGCAAGCCCAGCATGCACAGAGCTGGAGACTGTGATGATGGACTGGCTCGGGAAGATGCTGGAACTACCAAAGGCATTTTTGAATGAGAAAGCTGGAGAAGGG
GGAGGAGTGATCCAGGGAAGTGCCAGTGAAGCCACCCTGGTGGCCCTGCTGGCCGCTCGGACCAAAGTGATCCATCGGCTGCAGGCAGCGTCCCCAGAGCTCACA
CAGGCCGCTATCATGGAGAAGCTGGTGGCTTACTCATCCGATCAGGCACACTCCTCAGTGGAAAGAGCTGGGTTAATTGGTGGAGTGAAATTAAAAGCCATCCCC
TCAGATGGCAACTTCGCCATGCGTGCGTCTGCCCTGCAGGAAGCCCTGGAGAGAGACAAAGCGGCTGGCCTGATTCCTTTCTTTATGGTTGCCACCCTGGGGACC
ACAACATGCTGCTCCTTTGACAATCTCTTAGAAGTCGGTCCTATCTGCAACAAGGAAGACATATGGCTGCACGTTGATGCAGCCTACGCAGGCAGTGCATTCATC
TGCCCTGAGTTCCGGCACCTTCTGAATGGAGTGGAGTTTGCAGATTCATTCAACTTTAATCCCCACAAATGGCTATTGGTGAATTTTGACTGTTCTGCCATGTGG
GTGAAAAAGAGAACAGACTTAACGGGAGCCTTTAGACTGGACCCCACTTACCTGAAGCACAGCCATCAGGATTCAGGGCTTATCACTGACTACCGGCATTGGCAG
ATACCACTGGGCAGAAGATTTCGCTCTTTGAAAATGTGGTTTGTATTTAGGATGTATGGAGTCAAAGGACTGCAGGCTTATATCCGCAAGCATGTCCAGCTGTCC
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>DDC|1644|protein
MNASEFRRRGKEMVDYVANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYFPTASSYPAMLADMLCGAIGCIGFSW
AASPACTELETVMMDWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAARTKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAGLIGGVKLKAIP
SDGNFAMRASALQEALERDKAAGLIPFFMVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMW
VKKRTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFRSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRLKGSNKVN
EALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE
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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 (1) 1 (1) 1 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 6 (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
Wolpert, 2001 - FISHautism - - - - 1 - 1
Linkage Studies Top