DDC-AS1 (DDC antisense RNA 1) - Rat Genome Database

Name: DDC-AS1
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: DDC-AS1 (DDC antisense RNA 1) Homo sapiens

Analyze

Symbol:

DDC-AS1

Name:

DDC antisense RNA 1

RGD ID:

8662748

HGNC Page

HGNC:40171

Description:

ASSOCIATED WITH aromatic L-amino acid decarboxylase deficiency; genetic disease

Type:

ncrna (Ensembl: lncRNA)

RefSeq Status:

VALIDATED

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	50,531,759 - 50,543,463 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	50,531,759 - 50,543,463 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	50,599,457 - 50,611,161 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	50,566,951 - 50,576,547 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	7	50,664,356 - 50,676,057 (+)	NCBI		Celera
Cytogenetic Map	7	p12.1	NCBI
HuRef	7	50,449,407 - 50,461,108 (+)	NCBI		HuRef
CHM1_1	7	50,601,736 - 50,613,437 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	7	50,692,990 - 50,704,686 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

aromatic L-amino acid decarboxylase deficiency (IAGP)

genetic disease (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations

Additional References at PubMed

PMID:14702039	PMID:24816252

Genomics

Variants

Variants in DDC-AS1
101 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001082971.2(DDC):c.304G>A (p.Gly102Ser)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV000019387]	Chr7:50539926 [GRCh38] Chr7:50607624 [GRCh37] Chr7:7p12.1	pathogenic
NM_001082971.2(DDC):c.272C>T (p.Ala91Val)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV000019391]\|not provided [RCV003238725]	Chr7:50539958 [GRCh38] Chr7:50607656 [GRCh37] Chr7:7p12.1	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	copy number loss	See cases [RCV000135401]	Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1	copy number loss	See cases [RCV000134973]	Chr7:44571949..53699760 [GRCh38] Chr7:44611548..53767453 [GRCh37] Chr7:44578073..53734947 [NCBI36] Chr7:7p13-12.1	pathogenic
GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	copy number loss	See cases [RCV000136092]	Chr7:40534157..56107122 [GRCh38] Chr7:40573756..56174815 [GRCh37] Chr7:40540281..56142309 [NCBI36] Chr7:7p14.1-11.2	pathogenic
GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	copy number loss	See cases [RCV000136904]	Chr7:40020598..50543500 [GRCh38] Chr7:40060197..50611198 [GRCh37] Chr7:40026722..50578692 [NCBI36] Chr7:7p14.1-12.1	pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1	copy number loss	See cases [RCV000052250]	Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	copy number gain	See cases [RCV000053532]	Chr7:33328312..62377476 [GRCh38] Chr7:33367924..61831899 [GRCh37] Chr7:33334449..61469334 [NCBI36] Chr7:7p14.3-q11.21	pathogenic
NM_001082971.2(DDC):c.435+6G>T	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV000336493]\|Inborn genetic diseases [RCV002515262]\|not provided [RCV000178129]\|not specified [RCV003323428]	Chr7:50537854 [GRCh38] Chr7:50605552 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.234C>T (p.Ala78=)	single nucleotide variant	DDC-related condition [RCV003972517]\|Deficiency of aromatic-L-amino-acid decarboxylase [RCV000394914]\|not provided [RCV001540017]	Chr7:50539996 [GRCh38] Chr7:50607694 [GRCh37] Chr7:7p12.1	benign\|likely benign
NM_001082971.2(DDC):c.366C>T (p.Leu122=)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV000287219]	Chr7:50537929 [GRCh38] Chr7:50605627 [GRCh37] Chr7:7p12.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001082971.2(DDC):c.420G>C (p.Gly140=)	single nucleotide variant	not provided [RCV000303174]	Chr7:50537875 [GRCh38] Chr7:50605573 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.265A>G (p.Met89Val)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV000339933]	Chr7:50539965 [GRCh38] Chr7:50607663 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.412G>A (p.Gly138Arg)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV000379355]	Chr7:50537883 [GRCh38] Chr7:50605581 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.232G>T (p.Ala78Ser)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001221294]\|Inborn genetic diseases [RCV002562523]	Chr7:50539998 [GRCh38] Chr7:50607696 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.255G>A (p.Ser85=)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV003517280]	Chr7:50539975 [GRCh38] Chr7:50607673 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.315+11G>A	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001160239]	Chr7:50539904 [GRCh38] Chr7:50607602 [GRCh37] Chr7:7p12.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_001082971.2(DDC):c.316-5G>C	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001160237]	Chr7:50537984 [GRCh38] Chr7:50605682 [GRCh37] Chr7:7p12.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_001082971.2(DDC):c.260C>T (p.Pro87Leu)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001250058]	Chr7:50539970 [GRCh38] Chr7:50607668 [GRCh37] Chr7:7p12.1	pathogenic\|likely pathogenic\|uncertain significance
NM_001082971.2(DDC):c.286G>A (p.Gly96Arg)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001250057]	Chr7:50539944 [GRCh38] Chr7:50607642 [GRCh37] Chr7:7p12.1	likely pathogenic
NM_001082971.2(DDC):c.316-6C>T	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001160238]	Chr7:50537985 [GRCh38] Chr7:50605683 [GRCh37] Chr7:7p12.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_001082971.2(DDC):c.315+225C>G	single nucleotide variant	not provided [RCV001641759]	Chr7:50539690 [GRCh38] Chr7:50607388 [GRCh37] Chr7:7p12.1	benign
NM_001082971.2(DDC):c.424G>A (p.Gly142Arg)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001297760]\|not provided [RCV001760342]	Chr7:50537871 [GRCh38] Chr7:50605569 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.270_281dup (p.Ala91_Leu94dup)	duplication	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001308527]	Chr7:50539948..50539949 [GRCh38] Chr7:50607646..50607647 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.367G>A (p.Gly123Arg)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001339870]	Chr7:50537928 [GRCh38] Chr7:50605626 [GRCh37] Chr7:7p12.1	likely pathogenic\|uncertain significance
NM_001082971.2(DDC):c.315+10C>T	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001413270]	Chr7:50539905 [GRCh38] Chr7:50607603 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.207G>A (p.Thr69=)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001397123]	Chr7:50540023 [GRCh38] Chr7:50607721 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.206C>T (p.Thr69Met)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001366716]	Chr7:50540024 [GRCh38] Chr7:50607722 [GRCh37] Chr7:7p12.1	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001082971.2(DDC):c.435+260G>A	single nucleotide variant	not provided [RCV001650323]	Chr7:50537600 [GRCh38] Chr7:50605298 [GRCh37] Chr7:7p12.1	benign
NM_001082971.2(DDC):c.315+260T>A	single nucleotide variant	not provided [RCV001732787]	Chr7:50539655 [GRCh38] Chr7:50607353 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.410C>A (p.Ala137Asp)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002001443]	Chr7:50537885 [GRCh38] Chr7:50605583 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.322A>C (p.Ser108Arg)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001971384]	Chr7:50537973 [GRCh38] Chr7:50605671 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.418G>C (p.Gly140Arg)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002044321]	Chr7:50537877 [GRCh38] Chr7:50605575 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.251G>A (p.Ser84Asn)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001929857]	Chr7:50539979 [GRCh38] Chr7:50607677 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.285C>A (p.Cys95Ter)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001780918]	Chr7:50539945 [GRCh38] Chr7:50607643 [GRCh37] Chr7:7p12.1	likely pathogenic
NM_001082971.2(DDC):c.391G>T (p.Ala131Ser)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002006402]	Chr7:50537904 [GRCh38] Chr7:50605602 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.221C>T (p.Pro74Leu)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001945427]	Chr7:50540009 [GRCh38] Chr7:50607707 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.224A>T (p.Tyr75Phe)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001985356]	Chr7:50540006 [GRCh38] Chr7:50607704 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.379G>A (p.Glu127Lys)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001965567]	Chr7:50537916 [GRCh38] Chr7:50605614 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.212G>T (p.Trp71Leu)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001910542]	Chr7:50540018 [GRCh38] Chr7:50607716 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.231C>A (p.Phe77Leu)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001967473]	Chr7:50539999 [GRCh38] Chr7:50607697 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.317C>T (p.Ala106Val)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002039882]	Chr7:50537978 [GRCh38] Chr7:50605676 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.435+5G>T	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002043053]	Chr7:50537855 [GRCh38] Chr7:50605553 [GRCh37] Chr7:7p12.1	uncertain significance
NM_000790.4(DDC):c.316del	deletion	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001893818]	Chr7:50537979 [GRCh38] Chr7:50605677 [GRCh37] Chr7:7p12.1	pathogenic\|likely pathogenic
NM_001082971.2(DDC):c.418G>A (p.Gly140Arg)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001888188]	Chr7:50537877 [GRCh38] Chr7:50605575 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.419G>A (p.Gly140Glu)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002012919]	Chr7:50537876 [GRCh38] Chr7:50605574 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.202-3C>T	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001978112]	Chr7:50540031 [GRCh38] Chr7:50607729 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.232G>A (p.Ala78Thr)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001993466]	Chr7:50539998 [GRCh38] Chr7:50607696 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.326C>T (p.Pro109Leu)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001878016]	Chr7:50537969 [GRCh38] Chr7:50605667 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.361T>C (p.Trp121Arg)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002035629]	Chr7:50537934 [GRCh38] Chr7:50605632 [GRCh37] Chr7:7p12.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_001082971.2(DDC):c.268C>G (p.Leu90Val)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV001870352]	Chr7:50539962 [GRCh38] Chr7:50607660 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.315+13A>T	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002105657]	Chr7:50539902 [GRCh38] Chr7:50607600 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.435+61C>T	single nucleotide variant	not provided [RCV002225975]	Chr7:50537799 [GRCh38] Chr7:50605497 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.261G>A (p.Pro87=)	single nucleotide variant	DDC-related condition [RCV003923561]\|Deficiency of aromatic-L-amino-acid decarboxylase [RCV002085959]	Chr7:50539969 [GRCh38] Chr7:50607667 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.231C>T (p.Phe77=)	single nucleotide variant	DDC-related condition [RCV003941272]\|Deficiency of aromatic-L-amino-acid decarboxylase [RCV002084718]	Chr7:50539999 [GRCh38] Chr7:50607697 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.315+14T>C	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002079457]	Chr7:50539901 [GRCh38] Chr7:50607599 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.202-8C>T	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002151599]	Chr7:50540036 [GRCh38] Chr7:50607734 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.316-7A>C	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002096338]	Chr7:50537986 [GRCh38] Chr7:50605684 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.390G>A (p.Lys130=)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002172930]	Chr7:50537905 [GRCh38] Chr7:50605603 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.316-5G>A	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002133997]	Chr7:50537984 [GRCh38] Chr7:50605682 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.316-18T>C	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002155553]	Chr7:50537997 [GRCh38] Chr7:50605695 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.303C>T (p.Ile101=)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002155607]	Chr7:50539927 [GRCh38] Chr7:50607625 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.216C>T (p.His72=)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002216837]	Chr7:50540014 [GRCh38] Chr7:50607712 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.435+19G>C	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002201910]	Chr7:50537841 [GRCh38] Chr7:50605539 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.242C>T (p.Pro81Leu)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002223079]	Chr7:50539988 [GRCh38] Chr7:50607686 [GRCh37] Chr7:7p12.1	likely pathogenic
NM_001082971.2(DDC):c.316-8C>G	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV003111964]	Chr7:50537987 [GRCh38] Chr7:50605685 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.220C>A (p.Pro74Thr)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002681211]	Chr7:50540010 [GRCh38] Chr7:50607708 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.393A>G (p.Ala131=)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002972572]	Chr7:50537902 [GRCh38] Chr7:50605600 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.375G>A (p.Met125Ile)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002750852]	Chr7:50537920 [GRCh38] Chr7:50605618 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.428T>C (p.Val143Ala)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002991372]	Chr7:50537867 [GRCh38] Chr7:50605565 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.238T>C (p.Phe80Leu)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002971888]	Chr7:50539992 [GRCh38] Chr7:50607690 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.273G>A (p.Ala91=)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002996006]	Chr7:50539957 [GRCh38] Chr7:50607655 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.276C>T (p.Asp92=)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002730131]	Chr7:50539954 [GRCh38] Chr7:50607652 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.429G>A (p.Val143=)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002819152]	Chr7:50537866 [GRCh38] Chr7:50605564 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.254C>A (p.Ser85Ter)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002903483]	Chr7:50539976 [GRCh38] Chr7:50607674 [GRCh37] Chr7:7p12.1	pathogenic
NM_001082971.2(DDC):c.300C>T (p.Cys100=)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002740383]	Chr7:50539930 [GRCh38] Chr7:50607628 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.266T>C (p.Met89Thr)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV003018873]	Chr7:50539964 [GRCh38] Chr7:50607662 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.212G>C (p.Trp71Ser)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV003021046]	Chr7:50540018 [GRCh38] Chr7:50607716 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.239T>G (p.Phe80Cys)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV003043481]	Chr7:50539991 [GRCh38] Chr7:50607689 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.292A>G (p.Ile98Val)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV003042403]	Chr7:50539938 [GRCh38] Chr7:50607636 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.285C>T (p.Cys95=)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV003082505]	Chr7:50539945 [GRCh38] Chr7:50607643 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.299G>C (p.Cys100Ser)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002625673]	Chr7:50539931 [GRCh38] Chr7:50607629 [GRCh37] Chr7:7p12.1	likely pathogenic
NM_001082971.2(DDC):c.349G>C (p.Val117Leu)	single nucleotide variant	Inborn genetic diseases [RCV002892454]	Chr7:50537946 [GRCh38] Chr7:50605644 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.250A>G (p.Ser84Gly)	single nucleotide variant	Inborn genetic diseases [RCV002788504]	Chr7:50539980 [GRCh38] Chr7:50607678 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.202-5T>C	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002852212]	Chr7:50540033 [GRCh38] Chr7:50607731 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.220C>G (p.Pro74Ala)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV003066025]	Chr7:50540010 [GRCh38] Chr7:50607708 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.316-8C>A	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002716233]	Chr7:50537987 [GRCh38] Chr7:50605685 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.331T>C (p.Cys111Arg)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV003009307]	Chr7:50537964 [GRCh38] Chr7:50605662 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.288G>T (p.Gly96=)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV003093320]	Chr7:50539942 [GRCh38] Chr7:50607640 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.435+15G>A	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002654464]	Chr7:50537845 [GRCh38] Chr7:50605543 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.316-8C>T	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV002586568]	Chr7:50537987 [GRCh38] Chr7:50605685 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.318G>A (p.Ala106=)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV003067207]	Chr7:50537977 [GRCh38] Chr7:50605675 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.243C>A (p.Pro81=)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV003516718]	Chr7:50539987 [GRCh38] Chr7:50607685 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.388A>C (p.Lys130Gln)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV003517895]	Chr7:50537907 [GRCh38] Chr7:50605605 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.323G>A (p.Ser108Asn)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV003518759]	Chr7:50537972 [GRCh38] Chr7:50605670 [GRCh37] Chr7:7p12.1	uncertain significance
NM_001082971.2(DDC):c.315+10C>G	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV003631545]	Chr7:50539905 [GRCh38] Chr7:50607603 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.316-11C>T	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV003631751]	Chr7:50537990 [GRCh38] Chr7:50605688 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.362G>A (p.Trp121Ter)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV003631931]	Chr7:50537933 [GRCh38] Chr7:50605631 [GRCh37] Chr7:7p12.1	pathogenic
NM_001082971.2(DDC):c.202-18C>G	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV003632049]	Chr7:50540046 [GRCh38] Chr7:50607744 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.351G>C (p.Val117=)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV003632177]	Chr7:50537944 [GRCh38] Chr7:50605642 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.315+11G>C	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV003631837]	Chr7:50539904 [GRCh38] Chr7:50607602 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.202-10T>G	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV003631895]	Chr7:50540038 [GRCh38] Chr7:50607736 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.255G>C (p.Ser85=)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV003632398]	Chr7:50539975 [GRCh38] Chr7:50607673 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.316-4A>G	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV003841432]	Chr7:50537983 [GRCh38] Chr7:50605681 [GRCh37] Chr7:7p12.1	likely benign
NM_001082971.2(DDC):c.367G>C (p.Gly123Arg)	single nucleotide variant	Deficiency of aromatic-L-amino-acid decarboxylase [RCV003860612]	Chr7:50537928 [GRCh38] Chr7:50605626 [GRCh37] Chr7:7p12.1	likely pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	112
Count of miRNA genes:	102
Interacting mature miRNAs:	103
Transcripts:	ENST00000454521
Prediction methods:	Microtar, Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

High

Medium

Low

203

Below cutoff

296

283

133

260

159

197

108

266

122

180

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_008742	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_033845	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC018705	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK057400	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH236955	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068271	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000454521

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	50,531,759 - 50,543,463 (+)	Ensembl

RefSeq Acc Id:

NR_033845

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	50,531,759 - 50,543,463 (+)	NCBI
HuRef	7	50,449,407 - 50,461,108 (+)	NCBI
CHM1_1	7	50,601,736 - 50,613,437 (+)	NCBI
T2T-CHM13v2.0	7	50,692,990 - 50,704,686 (+)	NCBI

Sequence:

show sequence

ACTTTGCTGGCAGCAGATCTTCGCGGAGAGAAGCACGGGGAGGGTGACATGTGGTACAGAGCAG
GAACGATGGCTCTGTGCGATAGCAGCAGACAAAGGTTGCCATGGCAAGCCTGCTCAGGAGCATG
CCACATAGACCGATGCCCACAAGTCCACCTGGCTCCAAGCCACAGACAAGGTCCCTTGTGCATA
GGTACCGTGTCCCCACCCCGGGATCCCACCACAGCCAGGACCCCTTCCCGAGGTGCATCCGGAC
CCTCACCCAGGAGAAGCCGATGCAGCCAATGGCCCCGCACAGCATGTCCGCAAGCATGGCCGGG
TACGAGCTGGCAGTGGGGAAGTAGGCGAAGAAGTAGGGGCTGTGCCAGTGCGTCACCTGCATGG
GAGGACAGAGCAGCTGCTGAGGAGTGAGGAAAGCCAGGCCTCAAGAGAGCGGGGGACCCAGGTA
CCCCCATGGCTCCCAGCTGCCAGATGCAGCCAGACCCAGAGTTAGGTCTGGCTCAGAATCCCAG
CAGCAGAGGATATGCTCTATCGGGCTTGGCTGCTCTGCTCTGAATGGAGGAAGGAGCCGACAAA
GACAAAGCGCCCGGGGCCCAGGAGAGTTTAAGAGCAGCCCTGTGGCTGACTAGCCCCTCCGCAC
CTGGAGGGCCCATGTGCCTTTGTCTCTCTCCCCTTCCTGTGGCCTTTGGGCTGGAAAAGGACAG
AAGCGATTCTTGATTAGGGACAGATGTGTGCTCTTTTGCTTCACTCTCCGCTGATATTCACAGC
AACTTTTGAGATGGCTGGGCCTGCACTTGCTCCGCTCACGGCTCGAGAGCTCACCTGGTTTCCT
GCGATCACACAGCCAGCAGTTCGTGGGCTGCAGCTCCCACCCAGGGACCTTGCCCAACGCCTGT
GCATTTCCCAGCTCAGCTCTGCGCAGTGAATGCCCCCATAGAAGGAAGCAGAAAGACTTCAAAT
CCTCCCTTACTCTCCTGTACTCCCCACTGCCTGACATTTAGCCACACCTCTCCCAAAGGGTTTT
ATGCTGAACAGCTTAGTGTACTTGCACAATTTCTAGAAGAACCTGAATCCTGTTCTTTGCTCAA
AGCATAAATGCCAAGTGAGAATCCCCTGGAAGAAGAAATGTGAGCAGTGTGGTGAGAGAGGCGC
TCAGCTACTGAGAAACCAGTCCCTGAGGTCCAGGGCCTGAGGCCTAGTCTCAACCCATGATCAG
TGGACTGTAACCTTGTCTGACCTTATGCCTTCACAGGGCCTTGGCATTCTGTCTACATTGAGGG
AGTGGGTCTTGATGGTCCCAGACCCCTCTTCTATGAAAATCACATGTCGTTGCTCATAGGCCTT
ACAACCACAGACATGCTGGGTCGCGGCAGTGATCAACCAGTGGAGCCCACGGAGATTTTCCCTG
CCTGGACTCTGCACATTGTTGCATGGAAGGGCAGGTTTGGCCATCCTCATAAACATTCGTGATC
TAGAAACTGGCCGGGCTGCAACTCCCACCCAGACCCTGACTAGGCCAGAGCCACTTTAACCAAC
AGGCTTTTAGGTGAACTCCTTGGCAGAGAAAATCTACTGTGGAAGCGTAAAGCTGAAGGGAAGT
TTCTCTGAGCTCCAACTCTGCTGCCCTGTGAGTGAGTATCGGAGACAGCAGCCAGTCCCGCTGA
TTTCTGCCCTCTGTGTACCCCAGGCCTACTGGCTTCAGAGAAAAAGGGCTGCCTTGGTGGGCAG
CACCACACTGCCCACTCTCAAATAAACTAAAGAAAACGTTTCTTCCAC

hide sequence

Additional Information

External Database Links

Database	Acc Id	Source(s)
COSMIC	DDC-AS1	COSMIC
Ensembl Genes	ENSG00000226122	Ensembl, ENTREZGENE
Ensembl Transcript	ENST00000454521	ENTREZGENE
GTEx	ENSG00000226122	GTEx
HGNC ID	HGNC:40171	ENTREZGENE
Human Proteome Map	DDC-AS1	Human Proteome Map
NCBI Gene	DDC-AS1	ENTREZGENE
RNAcentral	URS0000261EA4	RNACentral

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar