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Gene: LOC130006572 (ATAC-STARR-seq lymphoblastoid active region 5382) Homo sapiens

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Symbol:

LOC130006572

Name:

ATAC-STARR-seq lymphoblastoid active region 5382

RGD ID:

329829888

Description:

This genomic sequence represents an accessible chromatin region that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]

Type:

biological-region

RefSeq Status:

REVIEWED

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	11	88,337,452 - 88,337,731 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	11	88,070,620 - 88,070,899 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
T2T-CHM13v2.0	11	88,256,471 - 88,256,750 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
LOC130006572	Human	aggressive periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	aggressive periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:11180012 more ...
LOC130006572	Human	aggressive periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:11180012 more ...
LOC130006572	Human	genetic disease		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
LOC130006572	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
LOC130006572	Human	Keratosis Palmoplantaris with Periodontopathia and Onychogryposis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Haim-Munk syndrome	ClinVar	PMID:23108224 and PMID:28492532
LOC130006572	Human	Keratosis Palmoplantaris with Periodontopathia and Onychogryposis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Haim-Munk syndrome	ClinVar	PMID:10662808 more ...
LOC130006572	Human	Keratosis Palmoplantaris with Periodontopathia and Onychogryposis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Haim-Munk syndrome	ClinVar	PMID:10662808 more ...
LOC130006572	Human	Keratosis Palmoplantaris with Periodontopathia and Onychogryposis		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Haim-Munk syndrome	ClinVar	PMID:28492532
LOC130006572	Human	Keratosis Palmoplantaris with Periodontopathia and Onychogryposis		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Haim-Munk syndrome	ClinVar	PMID:25741868
LOC130006572	Human	Keratosis Palmoplantaris with Periodontopathia and Onychogryposis		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Haim-Munk syndrome	ClinVar
LOC130006572	Human	Keratosis Palmoplantaris with Periodontopathia and Onychogryposis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Haim-Munk syndrome	ClinVar	PMID:11180012 more ...
LOC130006572	Human	Keratosis Palmoplantaris with Periodontopathia and Onychogryposis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Haim-Munk syndrome	ClinVar	PMID:10662808 more ...
LOC130006572	Human	Keratosis Palmoplantaris with Periodontopathia and Onychogryposis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Haim-Munk syndrome	ClinVar	PMID:10662808 more ...
LOC130006572	Human	Keratosis Palmoplantaris with Periodontopathia and Onychogryposis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Haim-Munk syndrome	ClinVar	PMID:11180012 more ...
LOC130006572	Human	Keratosis Palmoplantaris with Periodontopathia and Onychogryposis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Haim-Munk syndrome	ClinVar	PMID:10662808 more ...
LOC130006572	Human	Papillon-Lefevre disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Papillon-Lefevre Disease	ClinVar	PMID:11180012 more ...
LOC130006572	Human	Papillon-Lefevre disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Papillon-Lefèvre syndrome	ClinVar	PMID:10662808 more ...
LOC130006572	Human	Papillon-Lefevre disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
LOC130006572	Human	Papillon-Lefevre disease		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Papillon-Lefèvre syndrome	ClinVar	PMID:25741868
LOC130006572	Human	Papillon-Lefevre disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Papillon-Lefèvre syndrome	ClinVar
LOC130006572	Human	Papillon-Lefevre disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Papillon-Lefèvre syndrome	ClinVar	PMID:11180012 more ...
LOC130006572	Human	Papillon-Lefevre disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Papillon-Lefèvre syndrome	ClinVar	PMID:23108224
LOC130006572	Human	Papillon-Lefevre disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Papillon-Lefèvre syndrome	ClinVar	PMID:23108224 and PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:10662808 more ...
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:11180012 more ...
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:10662808 more ...
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:10662808 more ...
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:11180012 more ...
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:23108224 and PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:10662808 more ...
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:10662808 more ...
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532
LOC130006572	Human	Severe periodontitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Aggressive Periodontitis	ClinVar	PMID:28492532

PMID:35858748

Variants in LOC130006572
62 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001814.6(CTSC):c.-55C>T	single nucleotide variant	Papillon-Lefèvre syndrome [RCV001111853]	Chr11:88337727 [GRCh38] Chr11:88070895 [GRCh37] Chr11:11q14.2	uncertain significance
NM_001814.6(CTSC):c.81T>G (p.Pro27=)	single nucleotide variant	Haim-Munk syndrome [RCV001113581]\|Haim-Munk syndrome [RCV001456673]\|Papillon-Lefèvre syndrome [RCV001113580]	Chr11:88337592 [GRCh38] Chr11:88070760 [GRCh37] Chr11:11q14.2	likely benign\|uncertain significance
NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter)	single nucleotide variant	Haim-Munk syndrome [RCV001043532]\|Papillon-Lefèvre syndrome [RCV000128619]	Chr11:88337577 [GRCh38] Chr11:88070745 [GRCh37] Chr11:11q14.2	pathogenic
NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)	single nucleotide variant	CTSC-related disorder [RCV004758590]\|Haim-Munk syndrome [RCV003764536]\|Papillon-Lefèvre syndrome [RCV000007719]	Chr11:88337557 [GRCh38] Chr11:88070725 [GRCh37] Chr11:11q14.2	pathogenic\|likely pathogenic\|uncertain significance
NM_001814.6(CTSC):c.12G>A (p.Gly4=)	single nucleotide variant	Haim-Munk syndrome [RCV001113583]\|Haim-Munk syndrome [RCV001441438]\|Papillon-Lefèvre syndrome [RCV001113582]	Chr11:88337661 [GRCh38] Chr11:88070829 [GRCh37] Chr11:11q14.2	likely benign\|uncertain significance
NM_001814.6(CTSC):c.-18T>C	single nucleotide variant	Haim-Munk syndrome [RCV000290277]\|Papillon-Lefèvre syndrome [RCV000347521]\|not provided [RCV001658207]\|not specified [RCV000242385]	Chr11:88337690 [GRCh38] Chr11:88070858 [GRCh37] Chr11:11q14.2	benign\|likely benign
NM_001814.6(CTSC):c.4G>C (p.Gly2Arg)	single nucleotide variant	Haim-Munk syndrome [RCV002042553]	Chr11:88337669 [GRCh38] Chr11:88070837 [GRCh37] Chr11:11q14.2	uncertain significance
NM_001814.6(CTSC):c.140G>T (p.Gly47Val)	single nucleotide variant	Haim-Munk syndrome [RCV002038221]\|Inborn genetic diseases [RCV002545492]	Chr11:88337533 [GRCh38] Chr11:88070701 [GRCh37] Chr11:11q14.2	uncertain significance
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	copy number loss	See cases [RCV000133838]	Chr11:75941754..98357960 [GRCh38] Chr11:75652798..98228688 [GRCh37] Chr11:75330446..97733898 [NCBI36] Chr11:11q13.5-22.1	pathogenic
NM_001814.6(CTSC):c.-49C>T	single nucleotide variant	Haim-Munk syndrome [RCV001111852]\|Papillon-Lefèvre syndrome [RCV001111851]	Chr11:88337721 [GRCh38] Chr11:88070889 [GRCh37] Chr11:11q14.2	uncertain significance
NM_001814.6(CTSC):c.27C>T (p.Leu9=)	single nucleotide variant	Haim-Munk syndrome [RCV002156241]	Chr11:88337646 [GRCh38] Chr11:88070814 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.22C>T (p.Leu8=)	single nucleotide variant	Haim-Munk syndrome [RCV002190787]	Chr11:88337651 [GRCh38] Chr11:88070819 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.127G>T (p.Val43Leu)	single nucleotide variant	Haim-Munk syndrome [RCV002806622]	Chr11:88337546 [GRCh38] Chr11:88070714 [GRCh37] Chr11:11q14.2	uncertain significance
NM_001814.6(CTSC):c.144C>G (p.Ser48=)	single nucleotide variant	Haim-Munk syndrome [RCV002166117]	Chr11:88337529 [GRCh38] Chr11:88070697 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.16T>G (p.Ser6Ala)	single nucleotide variant	Haim-Munk syndrome [RCV003777756]\|Inborn genetic diseases [RCV002772894]	Chr11:88337657 [GRCh38] Chr11:88070825 [GRCh37] Chr11:11q14.2	likely benign\|uncertain significance
NM_001814.6(CTSC):c.60C>T (p.Gly20=)	single nucleotide variant	Haim-Munk syndrome [RCV002806868]	Chr11:88337613 [GRCh38] Chr11:88070781 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.21G>T (p.Leu7Phe)	single nucleotide variant	Haim-Munk syndrome [RCV001896653]	Chr11:88337652 [GRCh38] Chr11:88070820 [GRCh37] Chr11:11q14.2	uncertain significance
NM_001814.6(CTSC):c.147G>A (p.Gln49=)	single nucleotide variant	Haim-Munk syndrome [RCV002098346]	Chr11:88337526 [GRCh38] Chr11:88070694 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.162C>T (p.Cys54=)	single nucleotide variant	Haim-Munk syndrome [RCV002867423]	Chr11:88337511 [GRCh38] Chr11:88070679 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.53G>A (p.Gly18Asp)	single nucleotide variant	Haim-Munk syndrome [RCV001869889]	Chr11:88337620 [GRCh38] Chr11:88070788 [GRCh37] Chr11:11q14.2	uncertain significance
NM_001814.6(CTSC):c.94T>C (p.Tyr32His)	single nucleotide variant	Haim-Munk syndrome [RCV002966203]	Chr11:88337579 [GRCh38] Chr11:88070747 [GRCh37] Chr11:11q14.2	uncertain significance
NM_001814.6(CTSC):c.-55C>A	single nucleotide variant	Haim-Munk syndrome [RCV001388606]\|Papillon-Lefèvre syndrome [RCV003323875]	Chr11:88337727 [GRCh38] Chr11:88070895 [GRCh37] Chr11:11q14.2	pathogenic
NM_001814.6(CTSC):c.172+8G>T	single nucleotide variant	Haim-Munk syndrome [RCV003020921]	Chr11:88337493 [GRCh38] Chr11:88070661 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.21G>C (p.Leu7Phe)	single nucleotide variant	Haim-Munk syndrome [RCV003034409]	Chr11:88337652 [GRCh38] Chr11:88070820 [GRCh37] Chr11:11q14.2	uncertain significance
NM_001814.6(CTSC):c.138C>T (p.Ser46=)	single nucleotide variant	Haim-Munk syndrome [RCV003048863]	Chr11:88337535 [GRCh38] Chr11:88070703 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.172+10C>T	single nucleotide variant	Haim-Munk syndrome [RCV003068458]	Chr11:88337491 [GRCh38] Chr11:88070659 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.37C>A (p.Leu13Met)	single nucleotide variant	Haim-Munk syndrome [RCV000816300]	Chr11:88337636 [GRCh38] Chr11:88070804 [GRCh37] Chr11:11q14.2	uncertain significance
NM_001814.6(CTSC):c.90C>T (p.Cys30=)	single nucleotide variant	Haim-Munk syndrome [RCV000913482]	Chr11:88337583 [GRCh38] Chr11:88070751 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.71G>A (p.Cys24Tyr)	single nucleotide variant	Haim-Munk syndrome [RCV000642193]	Chr11:88337602 [GRCh38] Chr11:88070770 [GRCh37] Chr11:11q14.2	uncertain significance
NM_001814.6(CTSC):c.1A>G (p.Met1Val)	single nucleotide variant	CTSC-related disorder [RCV004021525]\|Haim-Munk syndrome [RCV002494957]	Chr11:88337672 [GRCh38] Chr11:88070840 [GRCh37] Chr11:11q14.2	conflicting interpretations of pathogenicity\|uncertain significance
NM_001814.6(CTSC):c.43C>T (p.Leu15Phe)	single nucleotide variant	Haim-Munk syndrome [RCV001374155]	Chr11:88337630 [GRCh38] Chr11:88070798 [GRCh37] Chr11:11q14.2	uncertain significance
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	copy number loss	See cases [RCV000052710]	Chr11:78232836..106779420 [GRCh38] Chr11:77943882..106650146 [GRCh37] Chr11:77621530..106155356 [NCBI36] Chr11:11q14.1-22.3	pathogenic
NM_001814.6(CTSC):c.95A>G (p.Tyr32Cys)	single nucleotide variant	Haim-Munk syndrome [RCV002603142]	Chr11:88337578 [GRCh38] Chr11:88070746 [GRCh37] Chr11:11q14.2	uncertain significance
NM_001814.6(CTSC):c.48C>T (p.Leu16=)	single nucleotide variant	Haim-Munk syndrome [RCV002635250]	Chr11:88337625 [GRCh38] Chr11:88070793 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.63C>T (p.Ala21=)	single nucleotide variant	Haim-Munk syndrome [RCV002635977]	Chr11:88337610 [GRCh38] Chr11:88070778 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.29C>T (p.Ala10Val)	single nucleotide variant	Haim-Munk syndrome [RCV000388177]\|Haim-Munk syndrome [RCV000642194]\|Papillon-Lefèvre syndrome [RCV000331209]	Chr11:88337644 [GRCh38] Chr11:88070812 [GRCh37] Chr11:11q14.2	uncertain significance
NM_001814.6(CTSC):c.-23C>G	single nucleotide variant	Haim-Munk syndrome [RCV000302821]\|Papillon-Lefèvre syndrome [RCV000399982]	Chr11:88337695 [GRCh38] Chr11:88070863 [GRCh37] Chr11:11q14.2	uncertain significance
NM_001814.6(CTSC):c.124del (p.Gln42fs)	deletion	Haim-Munk syndrome [RCV002618664]	Chr11:88337549 [GRCh38] Chr11:88070717 [GRCh37] Chr11:11q14.2	pathogenic
NM_001814.6(CTSC):c.164C>T (p.Ser55Leu)	single nucleotide variant	Inborn genetic diseases [RCV003219283]	Chr11:88337509 [GRCh38] Chr11:88070677 [GRCh37] Chr11:11q14.2	uncertain significance
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	copy number loss	See cases [RCV000052711]	Chr11:85242847..102920097 [GRCh38] Chr11:84953891..102738968 [GRCh37] Chr11:84631539..102296037 [NCBI36] Chr11:11q14.1-22.2	pathogenic
NM_001814.6(CTSC):c.166G>A (p.Val56Ile)	single nucleotide variant	Inborn genetic diseases [RCV003364562]	Chr11:88337507 [GRCh38] Chr11:88070675 [GRCh37] Chr11:11q14.2	uncertain significance
NM_001814.6(CTSC):c.-45C>G	single nucleotide variant	Haim-Munk syndrome [RCV000402091]\|Papillon-Lefèvre syndrome [RCV000359798]\|not provided [RCV004705233]	Chr11:88337717 [GRCh38] Chr11:88070885 [GRCh37] Chr11:11q14.2	likely benign\|uncertain significance
NM_001814.6(CTSC):c.-7C>A	single nucleotide variant	Haim-Munk syndrome [RCV000343899]\|Papillon-Lefèvre syndrome [RCV000397524]	Chr11:88337679 [GRCh38] Chr11:88070847 [GRCh37] Chr11:11q14.2	uncertain significance
NM_001814.6(CTSC):c.15C>T (p.Pro5=)	single nucleotide variant	Haim-Munk syndrome [RCV003797466]	Chr11:88337658 [GRCh38] Chr11:88070826 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.51C>T (p.Ser17=)	single nucleotide variant	Haim-Munk syndrome [RCV003797114]	Chr11:88337622 [GRCh38] Chr11:88070790 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.63C>G (p.Ala21=)	single nucleotide variant	Haim-Munk syndrome [RCV003807449]	Chr11:88337610 [GRCh38] Chr11:88070778 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.21del (p.Leu7fs)	deletion	Haim-Munk syndrome [RCV003783588]	Chr11:88337652 [GRCh38] Chr11:88070820 [GRCh37] Chr11:11q14.2	pathogenic
NM_001814.6(CTSC):c.172+19A>C	single nucleotide variant	Haim-Munk syndrome [RCV003786899]	Chr11:88337482 [GRCh38] Chr11:88070650 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.21G>A (p.Leu7=)	single nucleotide variant	CTSC-related disorder [RCV004374387]\|Haim-Munk syndrome [RCV003787744]	Chr11:88337652 [GRCh38] Chr11:88070820 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.111C>T (p.Gly37=)	single nucleotide variant	Haim-Munk syndrome [RCV003791796]	Chr11:88337562 [GRCh38] Chr11:88070730 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.172+15C>T	single nucleotide variant	Haim-Munk syndrome [RCV003795430]	Chr11:88337486 [GRCh38] Chr11:88070654 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.172+13C>T	single nucleotide variant	Haim-Munk syndrome [RCV003797266]	Chr11:88337488 [GRCh38] Chr11:88070656 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.90C>A (p.Cys30Ter)	single nucleotide variant	Haim-Munk syndrome [RCV003783587]	Chr11:88337583 [GRCh38] Chr11:88070751 [GRCh37] Chr11:11q14.2	pathogenic
NM_001814.6(CTSC):c.168T>G (p.Val56=)	single nucleotide variant	Haim-Munk syndrome [RCV003789495]	Chr11:88337505 [GRCh38] Chr11:88070673 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.84C>G (p.Ala28=)	single nucleotide variant	Haim-Munk syndrome [RCV003780388]	Chr11:88337589 [GRCh38] Chr11:88070757 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.134C>T (p.Ser45Phe)	single nucleotide variant	Haim-Munk syndrome [RCV003787936]	Chr11:88337539 [GRCh38] Chr11:88070707 [GRCh37] Chr11:11q14.2	uncertain significance
NM_001814.6(CTSC):c.18C>T (p.Ser6=)	single nucleotide variant	Haim-Munk syndrome [RCV003800484]	Chr11:88337655 [GRCh38] Chr11:88070823 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.42G>C (p.Leu14=)	single nucleotide variant	Haim-Munk syndrome [RCV003801285]	Chr11:88337631 [GRCh38] Chr11:88070799 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.165G>A (p.Ser55=)	single nucleotide variant	Haim-Munk syndrome [RCV003798814]	Chr11:88337508 [GRCh38] Chr11:88070676 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.64G>T (p.Val22Leu)	single nucleotide variant	Haim-Munk syndrome [RCV005220969]\|Inborn genetic diseases [RCV004615990]	Chr11:88337609 [GRCh38] Chr11:88070777 [GRCh37] Chr11:11q14.2	uncertain significance
NM_001814.6(CTSC):c.117G>T (p.Trp39Cys)	single nucleotide variant	not specified [RCV004702925]	Chr11:88337556 [GRCh38] Chr11:88070724 [GRCh37] Chr11:11q14.2	uncertain significance
NM_001814.6(CTSC):c.64G>C (p.Val22Leu)	single nucleotide variant	not provided [RCV004766079]	Chr11:88337609 [GRCh38] Chr11:88070777 [GRCh37] Chr11:11q14.2	uncertain significance
NM_001814.6(CTSC):c.48C>G (p.Leu16=)	single nucleotide variant	Haim-Munk syndrome [RCV005213848]	Chr11:88337625 [GRCh38] Chr11:88070793 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.172+8G>C	single nucleotide variant	Haim-Munk syndrome [RCV005217548]	Chr11:88337493 [GRCh38] Chr11:88070661 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.172+11G>C	single nucleotide variant	Haim-Munk syndrome [RCV005219743]	Chr11:88337490 [GRCh38] Chr11:88070658 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.45del (p.Leu16fs)	deletion	Haim-Munk syndrome [RCV005219964]	Chr11:88337628 [GRCh38] Chr11:88070796 [GRCh37] Chr11:11q14.2	pathogenic
NM_001814.6(CTSC):c.-48G>A	single nucleotide variant	Haim-Munk syndrome [RCV000297038]\|Papillon-Lefèvre syndrome [RCV000354215]	Chr11:88337720 [GRCh38] Chr11:88070888 [GRCh37] Chr11:11q14.2	uncertain significance
NM_001814.6(CTSC):c.87C>T (p.Asn29=)	single nucleotide variant	Haim-Munk syndrome [RCV003041014]	Chr11:88337586 [GRCh38] Chr11:88070754 [GRCh37] Chr11:11q14.2	likely benign
NM_001814.6(CTSC):c.40C>T (p.Leu14=)	single nucleotide variant	Haim-Munk syndrome [RCV001495054]	Chr11:88337633 [GRCh38] Chr11:88070801 [GRCh37] Chr11:11q14.2	likely benign

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597529776	GWAS1625850_H	dipeptidyl peptidase 1 measurement QTL GWAS1625850 (human)		3e-40	dipeptidyl peptidase 1 measurement		11	88337690	88337691	Human

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.


RefSeq Transcripts	NG_186017	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC011088	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Database	Acc Id	Source(s)
COSMIC	LOC130006572	COSMIC
GTEx	LOC130006572	GTEx
Human Proteome Map	LOC130006572	Human Proteome Map
NCBI Gene	LOC130006572	ENTREZGENE

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Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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Imported Disease Annotations - ClinVar

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