Evidence Details for DDC
Basic Information Top
| Gene Symbol: | DDC ( AADC ) |
|---|---|
| Gene Full Name: | dopa decarboxylase (aromatic L-amino acid decarboxylase) |
| Band: | 7p12.2-p12.1 |
| Quick Links | Entrez 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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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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MNASEFRRRGKEMVDYVANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYFPTASSYPAMLADMLCGAIGCIGFSW
AASPACTELETVMMDWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAARTKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAGLIGGVKLKAIP
SDGNFAMRASALQEALERDKAAGLIPFFMVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMW
VKKRTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFRSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRLKGSNKVN
EALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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 TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Wolpert, 2001 | - | FISH |  |  | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Allen-Brady, 2008 | - | SNP-based genomic screen | | | ASD | 1 | - | 1 | - | 7 | 22 | 29 |
Low Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 2
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Lauritsen, 2002_1 | Danmark, France | PCR | 90 | 90 (-) | | | ASD | - (3-30) |
- - | |
| Anderson, 2009_1 | USA, AGRE | ABI 7900 Taqman system | 403 | - (-) | | | ASD | - (3-21) |
- - | |
Case Control Based Association Studies: 2
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| CAUCASIAN | |||||||||||
| Toma, 2012_1 | Spanish | SNPlex | | | ASD | 17 - |
- | 350 (16.86%) |
- - | ||
| MIXED/OTHERS | |||||||||||
| Yu H, 2016_1 | China | ABI 7900 real-time PCR | | | autistic | 6.29 from 3 to 12 years |
- | 250 (10.80%) |
6.08 from 3 to 12 years | ||
Large Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.