ADAMTS3 (ADAM metallopeptidase with thrombospondin type 1 motif 3) - Rat Genome Database

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Gene: ADAMTS3 (ADAM metallopeptidase with thrombospondin type 1 motif 3) Homo sapiens
Analyze
Symbol: ADAMTS3
Name: ADAM metallopeptidase with thrombospondin type 1 motif 3
RGD ID: 1321838
HGNC Page HGNC:219
Description: Enables endopeptidase activity. Involved in collagen biosynthetic process; gene expression; and positive regulation of vascular endothelial growth factor signaling pathway. Located in extracellular space. Implicated in Hennekam syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: A disintegrin and metalloproteinase with thrombospondin motifs 3; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3; ADAM metallopeptidase with thrombospondin type 1 motif, 3; ADAM-TS 3; ADAM-TS3; ADAMTS-3; ADAMTS-4; HKLLS3; KIAA0366; PC II-NP; procollagen II amino propeptide-processing enzyme; procollagen II N-proteinase; zinc metalloendopeptidase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38472,280,969 - 72,569,221 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl472,280,969 - 72,569,221 (-)EnsemblGRCh38hg38GRCh38
GRCh37473,146,686 - 73,434,938 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36473,365,551 - 73,653,380 (-)NCBINCBI36Build 36hg18NCBI36
Build 34473,511,721 - 73,799,551NCBI
Celera470,502,659 - 70,790,668 (-)NCBICelera
Cytogenetic Map4q13.3NCBI
HuRef468,951,493 - 69,241,512 (-)NCBIHuRef
CHM1_1473,182,184 - 73,470,272 (-)NCBICHM1_1
T2T-CHM13v2.0475,623,227 - 75,912,559 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal dental morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal oral mucosa morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Anteverted nares  (IAGP)
Arteriovenous malformation  (IAGP)
Ascites  (IAGP)
Autosomal recessive inheritance  (IAGP)
Benign neoplasm of the central nervous system  (IAGP)
Broad forehead  (IAGP)
Camptodactyly of finger  (IAGP)
Chylothorax  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital onset  (IAGP)
Craniosynostosis  (IAGP)
Decreased circulating antibody concentration  (IAGP)
Delayed eruption of teeth  (IAGP)
Depressed nasal bridge  (IAGP)
Ectopic kidney  (IAGP)
Epicanthus  (IAGP)
Erysipelas  (IAGP)
Feeding difficulties  (IAGP)
Finger syndactyly  (IAGP)
Flat face  (IAGP)
Gingival overgrowth  (IAGP)
Glaucoma  (IAGP)
Horseshoe kidney  (IAGP)
Hydrocele testis  (IAGP)
Hydrops fetalis  (IAGP)
Hypertelorism  (IAGP)
Hypocalcemia  (IAGP)
Intellectual disability  (IAGP)
Low-set ears  (IAGP)
Lymphadenopathy  (IAGP)
Lymphangioma  (IAGP)
Lymphedema  (IAGP)
Lymphopenia  (IAGP)
Malabsorption  (IAGP)
Migraine  (IAGP)
Mild postnatal growth retardation  (IAGP)
Narrow chest  (IAGP)
Narrow mouth  (IAGP)
Pachygyria  (IAGP)
Pericardial effusion  (IAGP)
Polyhydramnios  (IAGP)
Prostate cancer  (IAGP)
Protein-losing enteropathy  (IAGP)
Pulmonary lymphangiectasia  (IAGP)
Pyloric stenosis  (IAGP)
Recurrent respiratory infections  (IAGP)
Respiratory insufficiency  (IAGP)
Retrognathia  (IAGP)
Seizure  (IAGP)
Short philtrum  (IAGP)
Sparse axillary hair  (IAGP)
Splenomegaly  (IAGP)
Spontaneous pneumothorax  (IAGP)
Strabismus  (IAGP)
Supernumerary tooth  (IAGP)
Synophrys  (IAGP)
Tooth agenesis  (IAGP)
Upslanted palpebral fissure  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9205841   PMID:10094461   PMID:10464288   PMID:11167130   PMID:11408482   PMID:11741898   PMID:11812023   PMID:11831030   PMID:12477932   PMID:15708897   PMID:19199708   PMID:20881960  
PMID:21546767   PMID:21822266   PMID:21873635   PMID:22205175   PMID:22261194   PMID:22286219   PMID:22916037   PMID:23259602   PMID:23333304   PMID:24552833   PMID:24752352   PMID:25261644  
PMID:25429064   PMID:25863161   PMID:26232334   PMID:26622631   PMID:28088271   PMID:28796414   PMID:28985353   PMID:29507755   PMID:29518549   PMID:30021884   PMID:30450763   PMID:32296183  
PMID:37336268  


Genomics

Comparative Map Data
ADAMTS3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38472,280,969 - 72,569,221 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl472,280,969 - 72,569,221 (-)EnsemblGRCh38hg38GRCh38
GRCh37473,146,686 - 73,434,938 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36473,365,551 - 73,653,380 (-)NCBINCBI36Build 36hg18NCBI36
Build 34473,511,721 - 73,799,551NCBI
Celera470,502,659 - 70,790,668 (-)NCBICelera
Cytogenetic Map4q13.3NCBI
HuRef468,951,493 - 69,241,512 (-)NCBIHuRef
CHM1_1473,182,184 - 73,470,272 (-)NCBICHM1_1
T2T-CHM13v2.0475,623,227 - 75,912,559 (-)NCBIT2T-CHM13v2.0
Adamts3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39589,821,700 - 90,031,521 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl589,824,946 - 90,031,193 (-)EnsemblGRCm39 Ensembl
GRCm38589,673,841 - 89,883,668 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl589,677,087 - 89,883,334 (-)EnsemblGRCm38mm10GRCm38
MGSCv37590,102,866 - 90,312,359 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36590,752,120 - 90,958,605 (-)NCBIMGSCv36mm8
Celera587,807,909 - 88,027,173 (-)NCBICelera
Cytogenetic Map5E1NCBI
cM Map544.32NCBI
Adamts3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81418,515,249 - 18,721,887 (+)NCBIGRCr8
mRatBN7.21418,231,128 - 18,437,771 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1418,231,165 - 18,435,556 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1418,223,355 - 18,428,156 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01419,542,250 - 19,747,040 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01418,250,519 - 18,460,965 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01419,866,278 - 20,072,896 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1419,866,408 - 20,070,994 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01419,772,990 - 19,979,182 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41419,756,887 - 19,963,451 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11419,692,864 - 19,963,098 (+)NCBI
Celera1417,597,010 - 17,800,450 (+)NCBICelera
Cytogenetic Map14p22NCBI
Adamts3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955447803,057 - 1,036,485 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955447803,287 - 1,036,435 (+)NCBIChiLan1.0ChiLan1.0
ADAMTS3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2357,511,238 - 57,801,709 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1457,705,360 - 57,998,579 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0451,648,293 - 51,941,329 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1457,965,585 - 58,258,295 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl457,966,197 - 58,259,404 (+)Ensemblpanpan1.1panPan2
ADAMTS3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11361,278,193 - 61,539,545 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1360,948,190 - 61,207,761 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01362,087,170 - 62,348,334 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1362,087,170 - 62,348,750 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11361,697,369 - 61,958,167 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01361,186,735 - 61,446,690 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01362,338,060 - 62,599,375 (-)NCBIUU_Cfam_GSD_1.0
Adamts3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528514,228,612 - 14,449,277 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365982,680,087 - 2,901,330 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365982,680,623 - 2,901,308 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADAMTS3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl868,675,070 - 68,948,414 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1868,675,067 - 68,948,537 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2872,588,988 - 72,885,005 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ADAMTS3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1720,793,392 - 21,068,712 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl720,793,399 - 21,048,515 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660841,744,928 - 2,020,967 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Adamts3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248903,738,186 - 3,925,491 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248903,738,727 - 3,925,377 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ADAMTS3
143 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3 copy number gain See cases [RCV000051774] Chr4:71128874..78099088 [GRCh38]
Chr4:71994591..79020242 [GRCh37]
Chr4:72213455..79239266 [NCBI36]
Chr4:4q13.3-21.21		 pathogenic
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3		 pathogenic
GRCh38/hg38 4q13.2-21.23(chr4:67869564-85517308)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|See cases [RCV000053294] Chr4:67869564..85517308 [GRCh38]
Chr4:68735282..86438461 [GRCh37]
Chr4:68417877..86657485 [NCBI36]
Chr4:4q13.2-21.23		 pathogenic
GRCh38/hg38 4q13.3-21.22(chr4:71079179-81802208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053295]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053295]|See cases [RCV000053295] Chr4:71079179..81802208 [GRCh38]
Chr4:71944896..82723361 [GRCh37]
Chr4:72163760..82942385 [NCBI36]
Chr4:4q13.3-21.22		 pathogenic
GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1 copy number loss See cases [RCV000053293] Chr4:65454562..72313693 [GRCh38]
Chr4:66320280..73179410 [GRCh37]
Chr4:66002875..73398274 [NCBI36]
Chr4:4q13.1-13.3		 pathogenic
NM_014243.2(ADAMTS3):c.3277C>T (p.His1093Tyr) single nucleotide variant Malignant melanoma [RCV000066520] Chr4:72283477 [GRCh38]
Chr4:73149194 [GRCh37]
Chr4:73368058 [NCBI36]
Chr4:4q13.3		 not provided
NM_014243.2(ADAMTS3):c.861+2638G>T single nucleotide variant Lung cancer [RCV000095010] Chr4:72336856 [GRCh38]
Chr4:73202573 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.2(ADAMTS3):c.662-36042C>A single nucleotide variant Lung cancer [RCV000095011] Chr4:72375735 [GRCh38]
Chr4:73241452 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.2(ADAMTS3):c.661+15333T>C single nucleotide variant Lung cancer [RCV000095012] Chr4:72399482 [GRCh38]
Chr4:73265199 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.64G>T (p.Gly22Ter) single nucleotide variant Malignant tumor of prostate [RCV000149207] Chr4:72568699 [GRCh38]
Chr4:73434416 [GRCh37]
Chr4:4q13.3		 uncertain significance
GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1 copy number loss See cases [RCV000137622] Chr4:67799665..74240920 [GRCh38]
Chr4:68665383..75106637 [GRCh37]
Chr4:68347978..75325501 [NCBI36]
Chr4:4q13.2-13.3		 likely pathogenic
GRCh38/hg38 4q13.3(chr4:71432026-73648490)x1 copy number loss See cases [RCV000137732] Chr4:71432026..73648490 [GRCh38]
Chr4:72297743..74514207 [GRCh37]
Chr4:72516607..74733071 [NCBI36]
Chr4:4q13.3		 likely pathogenic
GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3 copy number gain See cases [RCV000138312] Chr4:72262258..86002147 [GRCh38]
Chr4:73127975..86923300 [GRCh37]
Chr4:73346839..87142324 [NCBI36]
Chr4:4q13.3-21.3		 pathogenic
GRCh38/hg38 4q13.3(chr4:71367496-72953379)x1 copy number loss See cases [RCV000142982] Chr4:71367496..72953379 [GRCh38]
Chr4:72233213..73819096 [GRCh37]
Chr4:72452077..74037960 [NCBI36]
Chr4:4q13.3		 uncertain significance
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3 copy number gain See cases [RCV000143458] Chr4:68686088..95294456 [GRCh38]
Chr4:69551806..96215607 [GRCh37]
Chr4:69234401..96434630 [NCBI36]
Chr4:4q13.2-22.3		 pathogenic
NM_014243.3(ADAMTS3):c.2179+21G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 3 [RCV001549242]|not provided [RCV004716773] Chr4:72309376 [GRCh38]
Chr4:73175093 [GRCh37]
Chr4:4q13.3		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1 copy number loss See cases [RCV000510445] Chr4:66017575..76772947 [GRCh37]
Chr4:4q13.1-21.1		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q13.3(chr4:72224764-73824383)x1 copy number loss See cases [RCV000510484] Chr4:72224764..73824383 [GRCh37]
Chr4:4q13.3		 uncertain significance
GRCh37/hg19 4q13.3(chr4:73184648-73812869)x3 copy number gain See cases [RCV000510833] Chr4:73184648..73812869 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.3587G>C (p.Arg1196Pro) single nucleotide variant Inborn genetic diseases [RCV003241333] Chr4:72283167 [GRCh38]
Chr4:73148884 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.610T>G (p.Ser204Ala) single nucleotide variant Inborn genetic diseases [RCV003279664] Chr4:72414866 [GRCh38]
Chr4:73280583 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1396C>G (p.Pro466Ala) single nucleotide variant Inborn genetic diseases [RCV003291086] Chr4:72318661 [GRCh38]
Chr4:73184378 [GRCh37]
Chr4:4q13.3		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_014243.3(ADAMTS3):c.1119C>T (p.Thr373=) single nucleotide variant not provided [RCV004546071] Chr4:72319947 [GRCh38]
Chr4:73185664 [GRCh37]
Chr4:4q13.3		 likely benign
GRCh37/hg19 4q13.1-13.3(chr4:64705501-73469716)x3 copy number gain not provided [RCV000682409] Chr4:64705501..73469716 [GRCh37]
Chr4:4q13.1-13.3		 pathogenic
NM_014243.3(ADAMTS3):c.503T>C (p.Leu168Pro) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 3 [RCV000714297] Chr4:72548479 [GRCh38]
Chr4:73414196 [GRCh37]
Chr4:4q13.3		 pathogenic
NM_014243.3(ADAMTS3):c.872T>C (p.Ile291Thr) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 3 [RCV000714298] Chr4:72323087 [GRCh38]
Chr4:73188804 [GRCh37]
Chr4:4q13.3		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_014243.3(ADAMTS3):c.69+31del deletion Hennekam lymphangiectasia-lymphedema syndrome 3 [RCV001548848] Chr4:72568663 [GRCh38]
Chr4:73434380 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.3443C>T (p.Pro1148Leu) single nucleotide variant ADAMTS3-related disorder [RCV003960807]|not provided [RCV000969191] Chr4:72283311 [GRCh38]
Chr4:73149028 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.1754A>G (p.Asn585Ser) single nucleotide variant not provided [RCV000950124]|not specified [RCV001701371] Chr4:72312458 [GRCh38]
Chr4:72312458..72312459 [GRCh38]
Chr4:73178175 [GRCh37]
Chr4:73178175..73178176 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.1254G>A (p.Glu418=) single nucleotide variant ADAMTS3-related disorder [RCV003972860]|not provided [RCV000966916] Chr4:72319430 [GRCh38]
Chr4:73185147 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.280C>T (p.Arg94Ter) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 3 [RCV000770924]|Inborn genetic diseases [RCV001266483] Chr4:72548702 [GRCh38]
Chr4:73414419 [GRCh37]
Chr4:4q13.3		 pathogenic
NM_014243.3(ADAMTS3):c.1183G>A (p.Val395Ile) single nucleotide variant not provided [RCV000925711] Chr4:72319883 [GRCh38]
Chr4:73185600 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.2667C>A (p.Asn889Lys) single nucleotide variant Inborn genetic diseases [RCV003290016] Chr4:72295710 [GRCh38]
Chr4:73161427 [GRCh37]
Chr4:4q13.3		 uncertain significance
GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1 copy number loss not provided [RCV000846231] Chr4:71561780..78304341 [GRCh37]
Chr4:4q13.3-21.1		 pathogenic
GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3 copy number gain not provided [RCV000845944] Chr4:68242784..82991431 [GRCh37]
Chr4:4q13.2-21.22		 pathogenic
NM_014243.3(ADAMTS3):c.2363T>C (p.Ile788Thr) single nucleotide variant Inborn genetic diseases [RCV003250934] Chr4:72303978 [GRCh38]
Chr4:73169695 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.602A>G (p.Tyr201Cys) single nucleotide variant Inborn genetic diseases [RCV003240143] Chr4:72414874 [GRCh38]
Chr4:73280591 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.413G>A (p.Arg138Lys) single nucleotide variant ADAMTS3-related disorder [RCV003980684]|Hennekam lymphangiectasia-lymphedema syndrome 3 [RCV001549243]|not provided [RCV004716774] Chr4:72548569 [GRCh38]
Chr4:72548569..72548570 [GRCh38]
Chr4:73414286 [GRCh37]
Chr4:73414286..73414287 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.3220T>C (p.Ser1074Pro) single nucleotide variant not provided [RCV000888686] Chr4:72283534 [GRCh38]
Chr4:73149251 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.661+7G>A single nucleotide variant ADAMTS3-related disorder [RCV003960713]|Hennekam lymphangiectasia-lymphedema syndrome 3 [RCV002505447]|not provided [RCV000961536] Chr4:72414808 [GRCh38]
Chr4:73280525 [GRCh37]
Chr4:4q13.3		 benign|likely benign
GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1 copy number loss not provided [RCV001005556] Chr4:72680879..86426232 [GRCh37]
Chr4:4q13.3-21.23		 pathogenic
NM_014243.3(ADAMTS3):c.2825A>G (p.Asn942Ser) single nucleotide variant ADAMTS3-related disorder [RCV003930778]|not provided [RCV000890508]|not specified [RCV001700498] Chr4:72290961 [GRCh38]
Chr4:73156678 [GRCh37]
Chr4:4q13.3		 benign|likely benign
NM_014243.3(ADAMTS3):c.1746-5T>G single nucleotide variant not provided [RCV000890963] Chr4:72312471 [GRCh38]
Chr4:73178188 [GRCh37]
Chr4:4q13.3		 benign|likely benign
NM_014243.3(ADAMTS3):c.3183C>T (p.Tyr1061=) single nucleotide variant ADAMTS3-related disorder [RCV003923170]|not provided [RCV000911861] Chr4:72283571 [GRCh38]
Chr4:73149288 [GRCh37]
Chr4:4q13.3		 benign
GRCh37/hg19 4q13.3(chr4:73184648-73813059)x3 copy number gain not provided [RCV001005558] Chr4:73184648..73813059 [GRCh37]
Chr4:4q13.3		 uncertain significance
GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1 copy number loss not provided [RCV001005553] Chr4:68950363..79738598 [GRCh37]
Chr4:4q13.2-21.21		 pathogenic
GRCh37/hg19 4q13.3(chr4:72834889-73561412)x3 copy number gain not provided [RCV001005557] Chr4:72834889..73561412 [GRCh37]
Chr4:4q13.3		 uncertain significance
GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1 copy number loss See cases [RCV001263040] Chr4:71412409..87920784 [GRCh37]
Chr4:4q13.3-21.3		 pathogenic
GRCh37/hg19 4q13.3(chr4:73222936-73389169)x1 copy number loss not provided [RCV001259269] Chr4:73222936..73389169 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.1673C>T (p.Thr558Ile) single nucleotide variant Inborn genetic diseases [RCV004610761] Chr4:72313749 [GRCh38]
Chr4:73179466 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.3131A>G (p.Lys1044Arg) single nucleotide variant Inborn genetic diseases [RCV004610770] Chr4:72283623 [GRCh38]
Chr4:73149340 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.2617C>T (p.Arg873Cys) single nucleotide variant not provided [RCV001356236] Chr4:72295760 [GRCh38]
Chr4:73161477 [GRCh37]
Chr4:4q13.3		 uncertain significance
GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1 copy number loss Piebaldism [RCV001420508] Chr4:51891814..76009719 [GRCh38]
Chr4:4q12-21.1		 pathogenic
NC_000004.12:g.67833055_82716065del deletion See cases [RCV003313802] Chr4:67833055..82716065 [GRCh38]
Chr4:4q13.2-21.22		 pathogenic
GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517) copy number loss not specified [RCV002053422] Chr4:61867555..74711517 [GRCh37]
Chr4:4q13.1-13.3		 pathogenic
GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154) copy number loss not specified [RCV002053427] Chr4:73055313..80083154 [GRCh37]
Chr4:4q13.3-21.21		 pathogenic
GRCh37/hg19 4q13.3(chr4:72998352-73320894)x3 copy number gain not provided [RCV001827806] Chr4:72998352..73320894 [GRCh37]
Chr4:4q13.3		 uncertain significance
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
NM_014243.3(ADAMTS3):c.1906T>C (p.Tyr636His) single nucleotide variant Inborn genetic diseases [RCV003277189] Chr4:72312306 [GRCh38]
Chr4:73178023 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1347T>C (p.Tyr449=) single nucleotide variant ADAMTS3-related disorder [RCV003960991]|not provided [RCV002293106] Chr4:72319337 [GRCh38]
Chr4:73185054 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.1111C>T (p.Pro371Ser) single nucleotide variant Inborn genetic diseases [RCV002901533] Chr4:72319955 [GRCh38]
Chr4:73185672 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1884T>A (p.Asn628Lys) single nucleotide variant Inborn genetic diseases [RCV002779159] Chr4:72312328 [GRCh38]
Chr4:73178045 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.3259A>G (p.Thr1087Ala) single nucleotide variant Inborn genetic diseases [RCV002973486] Chr4:72283495 [GRCh38]
Chr4:73149212 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.775G>A (p.Glu259Lys) single nucleotide variant Inborn genetic diseases [RCV002992168] Chr4:72339580 [GRCh38]
Chr4:73205297 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.2780A>G (p.Gln927Arg) single nucleotide variant Inborn genetic diseases [RCV002945699] Chr4:72291006 [GRCh38]
Chr4:73156723 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.163C>T (p.Arg55Cys) single nucleotide variant Inborn genetic diseases [RCV002753041] Chr4:72548819 [GRCh38]
Chr4:73414536 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1345T>G (p.Tyr449Asp) single nucleotide variant Inborn genetic diseases [RCV002688837] Chr4:72319339 [GRCh38]
Chr4:73185056 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.74G>T (p.Gly25Val) single nucleotide variant Inborn genetic diseases [RCV002733873] Chr4:72567397 [GRCh38]
Chr4:73433114 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.79G>A (p.Glu27Lys) single nucleotide variant Inborn genetic diseases [RCV002901643] Chr4:72567392 [GRCh38]
Chr4:73433109 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1876T>A (p.Tyr626Asn) single nucleotide variant Inborn genetic diseases [RCV002778880] Chr4:72312336 [GRCh38]
Chr4:73178053 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.3289C>T (p.Pro1097Ser) single nucleotide variant Inborn genetic diseases [RCV002976984]|not provided [RCV003457202] Chr4:72283465 [GRCh38]
Chr4:73149182 [GRCh37]
Chr4:4q13.3		 likely benign|uncertain significance
NM_014243.3(ADAMTS3):c.1528C>G (p.Pro510Ala) single nucleotide variant Inborn genetic diseases [RCV003000959] Chr4:72315929 [GRCh38]
Chr4:73181646 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.531A>C (p.Glu177Asp) single nucleotide variant Inborn genetic diseases [RCV002782304] Chr4:72414945 [GRCh38]
Chr4:73280662 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.2219A>T (p.His740Leu) single nucleotide variant Inborn genetic diseases [RCV002799210] Chr4:72306028 [GRCh38]
Chr4:73171745 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.752C>A (p.Ala251Glu) single nucleotide variant Inborn genetic diseases [RCV002845490] Chr4:72339603 [GRCh38]
Chr4:73205320 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.2388C>A (p.His796Gln) single nucleotide variant Inborn genetic diseases [RCV002713571] Chr4:72303953 [GRCh38]
Chr4:73169670 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.2809C>G (p.Leu937Val) single nucleotide variant Inborn genetic diseases [RCV002916311] Chr4:72290977 [GRCh38]
Chr4:73156694 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1246G>T (p.Gly416Cys) single nucleotide variant Inborn genetic diseases [RCV002850103] Chr4:72319438 [GRCh38]
Chr4:73185155 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.353G>C (p.Gly118Ala) single nucleotide variant Inborn genetic diseases [RCV002763531] Chr4:72548629 [GRCh38]
Chr4:73414346 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.761A>G (p.Asn254Ser) single nucleotide variant Inborn genetic diseases [RCV002802257] Chr4:72339594 [GRCh38]
Chr4:73205311 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.2669A>G (p.Lys890Arg) single nucleotide variant Inborn genetic diseases [RCV002789139] Chr4:72295708 [GRCh38]
Chr4:73161425 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.2647C>T (p.Arg883Cys) single nucleotide variant Inborn genetic diseases [RCV002892279] Chr4:72295730 [GRCh38]
Chr4:73161447 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.2417T>C (p.Ile806Thr) single nucleotide variant Inborn genetic diseases [RCV002955721] Chr4:72303924 [GRCh38]
Chr4:73169641 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.293A>G (p.Asn98Ser) single nucleotide variant Inborn genetic diseases [RCV002931717] Chr4:72548689 [GRCh38]
Chr4:73414406 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.679C>T (p.Leu227Phe) single nucleotide variant Inborn genetic diseases [RCV002748398] Chr4:72339676 [GRCh38]
Chr4:73205393 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.752C>T (p.Ala251Val) single nucleotide variant Inborn genetic diseases [RCV002878955] Chr4:72339603 [GRCh38]
Chr4:73205320 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1726C>T (p.Arg576Cys) single nucleotide variant Inborn genetic diseases [RCV002674920] Chr4:72313696 [GRCh38]
Chr4:73179413 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.457G>A (p.Val153Met) single nucleotide variant Inborn genetic diseases [RCV002723624] Chr4:72548525 [GRCh38]
Chr4:73414242 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.2948G>A (p.Gly983Asp) single nucleotide variant Inborn genetic diseases [RCV002722287] Chr4:72288852 [GRCh38]
Chr4:73154569 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.3469C>T (p.His1157Tyr) single nucleotide variant Inborn genetic diseases [RCV002723299] Chr4:72283285 [GRCh38]
Chr4:73149002 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1304G>A (p.Arg435His) single nucleotide variant Inborn genetic diseases [RCV003281164] Chr4:72319380 [GRCh38]
Chr4:73185097 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1247G>C (p.Gly416Ala) single nucleotide variant Inborn genetic diseases [RCV003205472] Chr4:72319437 [GRCh38]
Chr4:73185154 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1848G>T (p.Gln616His) single nucleotide variant Inborn genetic diseases [RCV003184255] Chr4:72312364 [GRCh38]
Chr4:73178081 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1770T>G (p.Cys590Trp) single nucleotide variant Inborn genetic diseases [RCV003216909] Chr4:72312442 [GRCh38]
Chr4:73178159 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.3520G>A (p.Asp1174Asn) single nucleotide variant Inborn genetic diseases [RCV003210956] Chr4:72283234 [GRCh38]
Chr4:73148951 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1090G>A (p.Ala364Thr) single nucleotide variant Inborn genetic diseases [RCV003200827] Chr4:72320726 [GRCh38]
Chr4:73186443 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.2695T>G (p.Cys899Gly) single nucleotide variant Inborn genetic diseases [RCV003213068] Chr4:72295682 [GRCh38]
Chr4:73161399 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.3331G>A (p.Gly1111Ser) single nucleotide variant Inborn genetic diseases [RCV003308842] Chr4:72283423 [GRCh38]
Chr4:73149140 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.467C>G (p.Pro156Arg) single nucleotide variant Inborn genetic diseases [RCV003357372] Chr4:72548515 [GRCh38]
Chr4:73414232 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.2966G>A (p.Arg989Lys) single nucleotide variant Inborn genetic diseases [RCV003365171] Chr4:72288834 [GRCh38]
Chr4:73154551 [GRCh37]
Chr4:4q13.3		 uncertain significance
GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1 copy number loss not provided [RCV003485422] Chr4:69146217..75500577 [GRCh37]
Chr4:4q13.2-13.3		 pathogenic
NM_014243.3(ADAMTS3):c.1599+7A>G single nucleotide variant not provided [RCV003457418] Chr4:72315851 [GRCh38]
Chr4:73181568 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1017G>A (p.Gln339=) single nucleotide variant ADAMTS3-related disorder [RCV003966406]|not provided [RCV003439340] Chr4:72320799 [GRCh38]
Chr4:73186516 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.862-5G>T single nucleotide variant ADAMTS3-related disorder [RCV003946600]|not provided [RCV003439343] Chr4:72323102 [GRCh38]
Chr4:73188819 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.309T>C (p.Ala103=) single nucleotide variant not provided [RCV003439344] Chr4:72548673 [GRCh38]
Chr4:73414390 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.2322G>T (p.Ser774=) single nucleotide variant not provided [RCV003435038] Chr4:72304019 [GRCh38]
Chr4:73169736 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.2763T>C (p.Cys921=) single nucleotide variant not provided [RCV003435037] Chr4:72291023 [GRCh38]
Chr4:73156740 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.2085T>C (p.Ser695=) single nucleotide variant not provided [RCV003439338] Chr4:72309491 [GRCh38]
Chr4:73175208 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.862-4C>T single nucleotide variant ADAMTS3-related disorder [RCV003946599]|not provided [RCV003439342] Chr4:72323101 [GRCh38]
Chr4:73188818 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.1008G>A (p.Ala336=) single nucleotide variant not provided [RCV003439341] Chr4:72320808 [GRCh38]
Chr4:73186525 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.3365G>A (p.Ser1122Asn) single nucleotide variant ADAMTS3-related disorder [RCV003954188]|not provided [RCV003439337] Chr4:72283389 [GRCh38]
Chr4:73149106 [GRCh37]
Chr4:4q13.3		 benign|likely benign
NM_014243.3(ADAMTS3):c.1694G>A (p.Arg565Gln) single nucleotide variant ADAMTS3-related disorder [RCV003954189]|not provided [RCV003435039] Chr4:72313728 [GRCh38]
Chr4:73179445 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.1071C>G (p.Thr357=) single nucleotide variant not provided [RCV003439339] Chr4:72320745 [GRCh38]
Chr4:73186462 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.690A>C (p.Leu230=) single nucleotide variant ADAMTS3-related disorder [RCV003911674] Chr4:72339665 [GRCh38]
Chr4:73205382 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.3104G>A (p.Arg1035Gln) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 3 [RCV003989264] Chr4:72283650 [GRCh38]
Chr4:73149367 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1484C>T (p.Ala495Val) single nucleotide variant Inborn genetic diseases [RCV004367052] Chr4:72318573 [GRCh38]
Chr4:73184290 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1636A>G (p.Asn546Asp) single nucleotide variant Inborn genetic diseases [RCV004367067] Chr4:72313786 [GRCh38]
Chr4:73179503 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.712C>G (p.His238Asp) single nucleotide variant Inborn genetic diseases [RCV004367203] Chr4:72339643 [GRCh38]
Chr4:73205360 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.16C>T (p.Leu6Phe) single nucleotide variant Inborn genetic diseases [RCV004367079] Chr4:72568747 [GRCh38]
Chr4:73434464 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.2573C>T (p.Ser858Phe) single nucleotide variant Inborn genetic diseases [RCV004367115] Chr4:72298294 [GRCh38]
Chr4:73164011 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.2716C>T (p.His906Tyr) single nucleotide variant Inborn genetic diseases [RCV004367126] Chr4:72295661 [GRCh38]
Chr4:73161378 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.295A>C (p.Thr99Pro) single nucleotide variant Inborn genetic diseases [RCV004367131] Chr4:72548687 [GRCh38]
Chr4:73414404 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.3076A>C (p.Ile1026Leu) single nucleotide variant Inborn genetic diseases [RCV004367144] Chr4:72283678 [GRCh38]
Chr4:73149395 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.340T>C (p.Ser114Pro) single nucleotide variant Inborn genetic diseases [RCV004367161] Chr4:72548642 [GRCh38]
Chr4:73414359 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1677A>G (p.Lys559=) single nucleotide variant ADAMTS3-related disorder [RCV003962246] Chr4:72313745 [GRCh38]
Chr4:73179462 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.1693C>T (p.Arg565Trp) single nucleotide variant Inborn genetic diseases [RCV004367077] Chr4:72313729 [GRCh38]
Chr4:73179446 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.181C>G (p.Leu61Val) single nucleotide variant Inborn genetic diseases [RCV004367087] Chr4:72548801 [GRCh38]
Chr4:73414518 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.3113C>T (p.Ser1038Phe) single nucleotide variant Inborn genetic diseases [RCV004367151] Chr4:72283641 [GRCh38]
Chr4:73149358 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.3389G>A (p.Arg1130His) single nucleotide variant Inborn genetic diseases [RCV004367160] Chr4:72283365 [GRCh38]
Chr4:73149082 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.410G>A (p.Arg137Gln) single nucleotide variant Inborn genetic diseases [RCV004367177] Chr4:72548572 [GRCh38]
Chr4:73414289 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.2273A>G (p.Gln758Arg) single nucleotide variant Inborn genetic diseases [RCV004367104] Chr4:72304068 [GRCh38]
Chr4:73169785 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.3017C>T (p.Ser1006Leu) single nucleotide variant Inborn genetic diseases [RCV004367136] Chr4:72288783 [GRCh38]
Chr4:73154500 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.3047A>G (p.Asn1016Ser) single nucleotide variant Inborn genetic diseases [RCV004367142] Chr4:72288753 [GRCh38]
Chr4:73154470 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.3094G>C (p.Val1032Leu) single nucleotide variant Inborn genetic diseases [RCV004367148] Chr4:72283660 [GRCh38]
Chr4:73149377 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.819C>A (p.Gly273=) single nucleotide variant ADAMTS3-related disorder [RCV003979014] Chr4:72339536 [GRCh38]
Chr4:73205253 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.567G>T (p.Gln189His) single nucleotide variant Inborn genetic diseases [RCV004367187] Chr4:72414909 [GRCh38]
Chr4:73280626 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.3457A>C (p.Thr1153Pro) single nucleotide variant Inborn genetic diseases [RCV004367164] Chr4:72283297 [GRCh38]
Chr4:73149014 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1242G>A (p.Arg414=) single nucleotide variant ADAMTS3-related disorder [RCV003937146] Chr4:72319442 [GRCh38]
Chr4:73185159 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.2322G>A (p.Ser774=) single nucleotide variant ADAMTS3-related disorder [RCV003962144] Chr4:72304019 [GRCh38]
Chr4:73169736 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.1537C>A (p.Pro513Thr) single nucleotide variant ADAMTS3-related disorder [RCV003921853] Chr4:72315920 [GRCh38]
Chr4:73181637 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.399G>A (p.Thr133=) single nucleotide variant ADAMTS3-related disorder [RCV003946871] Chr4:72548583 [GRCh38]
Chr4:73414300 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.1977C>T (p.Tyr659=) single nucleotide variant ADAMTS3-related disorder [RCV003981508] Chr4:72311126 [GRCh38]
Chr4:73176843 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.655T>C (p.Tyr219His) single nucleotide variant ADAMTS3-related disorder [RCV003927076] Chr4:72414821 [GRCh38]
Chr4:73280538 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.331C>T (p.His111Tyr) single nucleotide variant ADAMTS3-related disorder [RCV003931611] Chr4:72548651 [GRCh38]
Chr4:73414368 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.2391C>T (p.Thr797=) single nucleotide variant ADAMTS3-related disorder [RCV003899465] Chr4:72303950 [GRCh38]
Chr4:73169667 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.1030C>G (p.Leu344Val) single nucleotide variant Inborn genetic diseases [RCV004366988] Chr4:72320786 [GRCh38]
Chr4:73186503 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.1171T>C (p.Ser391Pro) single nucleotide variant Inborn genetic diseases [RCV004367013] Chr4:72319895 [GRCh38]
Chr4:73185612 [GRCh37]
Chr4:4q13.3		 uncertain significance
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_014243.3(ADAMTS3):c.1379C>T (p.Pro460Leu) single nucleotide variant ADAMTS3-related disorder [RCV003896502] Chr4:72318678 [GRCh38]
Chr4:73184395 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.70-5del deletion ADAMTS3-related disorder [RCV003979802] Chr4:72567406 [GRCh38]
Chr4:73433123 [GRCh37]
Chr4:4q13.3		 benign
NM_014243.3(ADAMTS3):c.3370C>T (p.Pro1124Ser) single nucleotide variant Inborn genetic diseases [RCV004367157] Chr4:72283384 [GRCh38]
Chr4:73149101 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.2878C>T (p.Pro960Ser) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 3 [RCV003990502] Chr4:72290908 [GRCh38]
Chr4:73156625 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.637A>G (p.Met213Val) single nucleotide variant Inborn genetic diseases [RCV004367192] Chr4:72414839 [GRCh38]
Chr4:73280556 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.658A>G (p.Arg220Gly) single nucleotide variant Inborn genetic diseases [RCV004367195] Chr4:72414818 [GRCh38]
Chr4:73280535 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.57A>G (p.Ser19=) single nucleotide variant ADAMTS3-related disorder [RCV003976628] Chr4:72568706 [GRCh38]
Chr4:73434423 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.1200G>A (p.Thr400=) single nucleotide variant not provided [RCV004585554] Chr4:72319866 [GRCh38]
Chr4:73185583 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.3171G>T (p.Leu1057=) single nucleotide variant not provided [RCV004585458] Chr4:72283583 [GRCh38]
Chr4:73149300 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.665C>T (p.Ser222Leu) single nucleotide variant Inborn genetic diseases [RCV004612755] Chr4:72339690 [GRCh38]
Chr4:73205407 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.3584G>A (p.Arg1195Lys) single nucleotide variant Inborn genetic diseases [RCV004612775] Chr4:72283170 [GRCh38]
Chr4:73148887 [GRCh37]
Chr4:4q13.3		 uncertain significance
NM_014243.3(ADAMTS3):c.3510T>G (p.Phe1170Leu) single nucleotide variant Inborn genetic diseases [RCV004612786] Chr4:72283244 [GRCh38]
Chr4:73148961 [GRCh37]
Chr4:4q13.3		 likely benign
NM_014243.3(ADAMTS3):c.1001G>A (p.Arg334His) single nucleotide variant Inborn genetic diseases [RCV004612765] Chr4:72320815 [GRCh38]
Chr4:73186532 [GRCh37]
Chr4:4q13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1130
Count of miRNA genes:680
Interacting mature miRNAs:804
Transcripts:ENST00000286657, ENST00000505193, ENST00000511274
Prediction methods:Miranda, Rnahybrid, Targetscan
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407317061GWAS966037_Horal microbiome measurement QTL GWAS966037 (human)0.0000007oral microbiome measurement47238983672389837Human
407212103GWAS861079_HIschemic stroke, coronary artery disease QTL GWAS861079 (human)0.000003Ischemic stroke, coronary artery disease47249252972492530Human
406937154GWAS586130_Hbody height QTL GWAS586130 (human)4e-09body height (VT:0001253)body height (CMO:0000106)47239113972391140Human
407028037GWAS677013_Hdental caries QTL GWAS677013 (human)0.0000003dental caries47255180772551808Human
407355087GWAS1004063_HBMI-adjusted hip circumference QTL GWAS1004063 (human)1e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)47249927772499278Human
407289932GWAS938908_Hcortical thickness QTL GWAS938908 (human)1e-15cortical thickness47247037672470377Human
407140169GWAS789145_HC-X-C motif chemokine 10 measurement QTL GWAS789145 (human)1e-15C-X-C motif chemokine 10 measurement47228620872286209Human
407355338GWAS1004314_Hdiastolic blood pressure QTL GWAS1004314 (human)2e-10diastolic blood pressurediastolic blood pressure (CMO:0000005)47254856972548570Human
407028047GWAS677023_Hdental caries QTL GWAS677023 (human)0.000002dental caries47255180772551808Human
407023963GWAS672939_Hlipid measurement QTL GWAS672939 (human)5e-18lipid measurementblood lipid measurement (CMO:0000050)47245684872456849Human
407184092GWAS833068_HBMI-adjusted waist circumference QTL GWAS833068 (human)3e-11BMI-adjusted waist circumference47256881372568814Human
407027166GWAS676142_Hvitamin D measurement, COVID-19 QTL GWAS676142 (human)8e-10vitamin D measurement, COVID-1947239336972393370Human
406947678GWAS596654_Hcoronary artery disease QTL GWAS596654 (human)3e-09coronary artery disease47255491772554918Human
407288165GWAS937141_Hbody height QTL GWAS937141 (human)2e-08body height (VT:0001253)body height (CMO:0000106)47254192972541930Human
407317088GWAS966064_Hcortical surface area measurement QTL GWAS966064 (human)2e-20cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)47254901372549014Human
407418978GWAS1067954_Hdiastolic blood pressure QTL GWAS1067954 (human)0.0000001diastolic blood pressurediastolic blood pressure (CMO:0000005)47254856972548570Human
407208430GWAS857406_Hcoronary artery disease QTL GWAS857406 (human)0.0000005coronary artery disease47249252972492530Human
407326443GWAS975419_Htestosterone measurement QTL GWAS975419 (human)2e-08testosterone measurementserum testosterone level (CMO:0000568)47229754672297547Human
407355371GWAS1004347_Hdiastolic blood pressure QTL GWAS1004347 (human)2e-11diastolic blood pressurediastolic blood pressure (CMO:0000005)47254856972548570Human
407336040GWAS985016_Hvitamin D measurement QTL GWAS985016 (human)1e-45vitamin D measurement47237052672370527Human
407017586GWAS666562_Hbody height QTL GWAS666562 (human)1e-15body height (VT:0001253)body height (CMO:0000106)47245046272450463Human
407280759GWAS929735_Hbody height QTL GWAS929735 (human)2e-27body height (VT:0001253)body height (CMO:0000106)47252207172522072Human
407079281GWAS728257_Htotal cholesterol measurement QTL GWAS728257 (human)2e-13total cholesterol measurementblood total cholesterol level (CMO:0000051)47243767772437678Human
407168881GWAS817857_Hcortical thickness QTL GWAS817857 (human)5e-15cortical thickness47250830772508308Human
407076473GWAS725449_Hlevel of Sphingomyelin (d38:1) in blood serum QTL GWAS725449 (human)7e-10level of Sphingomyelin (d38:1) in blood serum47243767772437678Human
407012606GWAS661582_Hbody height QTL GWAS661582 (human)3e-08body height (VT:0001253)body height (CMO:0000106)47252082872520829Human
407048703GWAS697679_Hsexual dimorphism measurement QTL GWAS697679 (human)4e-09sexual dimorphism measurement47256881372568814Human
407187704GWAS836680_Hcoronary artery disease QTL GWAS836680 (human)0.000007coronary artery disease47255491772554918Human
407012605GWAS661581_Hbody height QTL GWAS661581 (human)9e-11body height (VT:0001253)body height (CMO:0000106)47230547372305474Human
407096450GWAS745426_Hlow density lipoprotein cholesterol measurement QTL GWAS745426 (human)3e-10low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)47243767772437678Human
407359364GWAS1008340_HBMI-adjusted waist circumference QTL GWAS1008340 (human)4e-08BMI-adjusted waist circumference47247820772478208Human
407019652GWAS668628_Hbody height QTL GWAS668628 (human)2e-20body height (VT:0001253)body height (CMO:0000106)47249610272496103Human
407018386GWAS667362_Hbody height QTL GWAS667362 (human)6e-22body height (VT:0001253)body height (CMO:0000106)47254395172543952Human
407069074GWAS718050_Hlow density lipoprotein cholesterol measurement QTL GWAS718050 (human)3e-18low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)47243767772437678Human
407340050GWAS989026_Hvitamin D measurement QTL GWAS989026 (human)4e-18vitamin D measurement47231584772315848Human
407076758GWAS725734_Hlevel of Sphingomyelin (d38:2) in blood serum QTL GWAS725734 (human)2e-10level of Sphingomyelin (d38:2) in blood serum47243767772437678Human
407077781GWAS726757_Hlevel of Sphingomyelin (d34:1) in blood serum QTL GWAS726757 (human)4e-08level of Sphingomyelin (d34:1) in blood serum47243767772437678Human
407053210GWAS702186_Hlevel of Sphingomyelin (d40:2) in blood serum QTL GWAS702186 (human)2e-09level of Sphingomyelin (d40:2) in blood serum47243767772437678Human
407284134GWAS933110_Hbrain measurement QTL GWAS933110 (human)2e-31brain measurementbrain measurement (CMO:0000911)47245148772451488Human
407063457GWAS712433_Happendicular lean mass QTL GWAS712433 (human)0.000003appendicular lean mass47231592072315921Human
407293860GWAS942836_Hafamin measurement QTL GWAS942836 (human)4e-38afamin measurement47248770472487705Human
407140646GWAS789622_HC-X-C motif chemokine 10 measurement QTL GWAS789622 (human)3e-10C-X-C motif chemokine 10 measurement47254770572547706Human
407340065GWAS989041_Hvitamin D measurement QTL GWAS989041 (human)8e-11vitamin D measurement47231245872312459Human
406900902GWAS549878_Hneuroimaging measurement QTL GWAS549878 (human)8e-13neuroimaging measurement47247489572474896Human
407352751GWAS1001727_HBMI-adjusted hip circumference QTL GWAS1001727 (human)6e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)47251329572513296Human
407205165GWAS854141_Hcortical surface area measurement QTL GWAS854141 (human)1e-17cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)47255130572551306Human
407238316GWAS887292_Hbody height QTL GWAS887292 (human)1e-12body height (VT:0001253)body height (CMO:0000106)47233953672339537Human
407352750GWAS1001726_HBMI-adjusted hip circumference QTL GWAS1001726 (human)5e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)47256881372568814Human
407238319GWAS887295_Hbody height QTL GWAS887295 (human)1e-300body height (VT:0001253)body height (CMO:0000106)47256392172563922Human
407238318GWAS887294_Hbody height QTL GWAS887294 (human)2e-16body height (VT:0001253)body height (CMO:0000106)47248510572485106Human
407085359GWAS734335_Hvitamin D measurement QTL GWAS734335 (human)5e-20vitamin D measurement47230547372305474Human
407213352GWAS862328_Happendicular lean mass QTL GWAS862328 (human)3e-10appendicular lean mass47231592072315921Human
406983981GWAS632957_Hbrain measurement, neuroimaging measurement QTL GWAS632957 (human)2e-09brain measurement, neuroimaging measurementbrain measurement (CMO:0000911)47246833472468335Human
407054897GWAS703873_Hlevel of Sphingomyelin (d42:2) in blood serum QTL GWAS703873 (human)3e-08low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)47243767772437678Human
407028918GWAS677894_Hvitamin D measurement, COVID-19 QTL GWAS677894 (human)2e-09vitamin D measurement, COVID-1947237052672370527Human
407055543GWAS704519_Hlevel of Sphingomyelin (d40:1) in blood serum QTL GWAS704519 (human)1e-11level of Sphingomyelin (d40:1) in blood serum47243767772437678Human
406998709GWAS647685_HBMI-adjusted waist circumference QTL GWAS647685 (human)5e-08BMI-adjusted waist circumference47255490272554903Human
406984507GWAS633483_Hcortical surface area measurement, neuroimaging measurement QTL GWAS633483 (human)2e-08cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)47254901372549014Human
407339832GWAS988808_Hvitamin D measurement QTL GWAS988808 (human)3e-12vitamin D measurement47231592072315921Human
407264953GWAS913929_Hbrain measurement QTL GWAS913929 (human)2e-11brain measurementbrain measurement (CMO:0000911)47240870172408702Human

Markers in Region
SHGC-59735  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37473,148,728 - 73,148,877UniSTSGRCh37
Build 36473,367,592 - 73,367,741RGDNCBI36
Celera470,504,701 - 70,504,850RGD
Cytogenetic Map4q13.3UniSTS
HuRef468,953,536 - 68,953,685UniSTS
GeneMap99-GB4 RH Map4423.97UniSTS
NCBI RH Map4875.8UniSTS
G33602  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37473,146,829 - 73,146,940UniSTSGRCh37
Build 36473,365,693 - 73,365,804RGDNCBI36
Celera470,502,801 - 70,502,912RGD
Cytogenetic Map4q13.3UniSTS
HuRef468,951,636 - 68,951,747UniSTS
HSC2JD032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37473,146,693 - 73,146,894UniSTSGRCh37
Build 36473,365,557 - 73,365,758RGDNCBI36
Celera470,502,665 - 70,502,866RGD
Cytogenetic Map4q13.3UniSTS
HuRef468,951,500 - 68,951,701UniSTS
TNG Radiation Hybrid Map440484.0UniSTS
Stanford-G3 RH Map44018.0UniSTS
GeneMap99-GB4 RH Map4425.31UniSTS
Whitehead-RH Map4478.3UniSTS
NCBI RH Map4849.5UniSTS
GeneMap99-G3 RH Map44002.0UniSTS
RH120789  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37473,154,209 - 73,154,482UniSTSGRCh37
Build 36473,373,073 - 73,373,346RGDNCBI36
Celera470,510,182 - 70,510,455RGD
Cytogenetic Map4q13.3UniSTS
HuRef468,959,016 - 68,959,289UniSTS
TNG Radiation Hybrid Map440501.0UniSTS
RH120844  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37473,302,801 - 73,303,072UniSTSGRCh37
Build 36473,521,665 - 73,521,936RGDNCBI36
Celera470,658,626 - 70,658,897RGD
Cytogenetic Map4q13.3UniSTS
HuRef469,108,785 - 69,109,056UniSTS
TNG Radiation Hybrid Map440703.0UniSTS
D4S1389  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37473,177,951 - 73,178,154UniSTSGRCh37
Build 36473,396,815 - 73,397,018RGDNCBI36
Celera470,533,925 - 70,534,128RGD
Cytogenetic Map4q13.3UniSTS
HuRef468,982,755 - 68,982,958UniSTS
ADAMTS3_678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37473,146,526 - 73,147,397UniSTSGRCh37
Build 36473,365,390 - 73,366,261RGDNCBI36
Celera470,502,498 - 70,503,369RGD
HuRef468,951,333 - 68,952,204UniSTS
SHGC-67364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37473,146,968 - 73,147,095UniSTSGRCh37
Build 36473,365,832 - 73,365,959RGDNCBI36
Celera470,502,940 - 70,503,067RGD
Cytogenetic Map4q13.3UniSTS
HuRef468,951,775 - 68,951,902UniSTS
GeneMap99-GB4 RH Map4444.58UniSTS
NCBI RH Map4850.7UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2334 2787 2229 4840 1683 2266 6 581 1365 421 2264 6596 5887 37 3606 838 1712 1575 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_046955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB002364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC095056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF247668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX954214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000286657   ⟹   ENSP00000286657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl472,280,969 - 72,569,221 (-)Ensembl
Ensembl Acc Id: ENST00000505193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl472,441,676 - 72,568,045 (-)Ensembl
Ensembl Acc Id: ENST00000511274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl472,298,225 - 72,312,255 (-)Ensembl
Ensembl Acc Id: ENST00000622135   ⟹   ENSP00000480055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl472,282,041 - 72,568,796 (-)Ensembl
RefSeq Acc Id: NM_014243   ⟹   NP_055058
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38472,280,969 - 72,569,221 (-)NCBI
GRCh37473,146,686 - 73,434,516 (-)ENTREZGENE
Build 36473,365,551 - 73,653,380 (-)NCBI Archive
Celera470,502,659 - 70,790,668 (-)RGD
HuRef468,951,493 - 69,241,512 (-)ENTREZGENE
CHM1_1473,182,184 - 73,470,272 (-)NCBI
T2T-CHM13v2.0475,623,227 - 75,912,559 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532421   ⟹   XP_011530723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38472,280,969 - 72,568,005 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532422   ⟹   XP_011530724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38472,280,969 - 72,568,653 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054351286   ⟹   XP_054207261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0475,623,227 - 75,911,344 (-)NCBI
RefSeq Acc Id: XM_054351287   ⟹   XP_054207262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0475,623,227 - 75,911,992 (-)NCBI
RefSeq Acc Id: NP_055058   ⟸   NM_014243
- Peptide Label: preproprotein
- UniProtKB: A1L3U9 (UniProtKB/Swiss-Prot),   Q9BXZ8 (UniProtKB/Swiss-Prot),   O15072 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011530724   ⟸   XM_011532422
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011530723   ⟸   XM_011532421
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000480055   ⟸   ENST00000622135
Ensembl Acc Id: ENSP00000286657   ⟸   ENST00000286657
RefSeq Acc Id: XP_054207262   ⟸   XM_054351287
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054207261   ⟸   XM_054351286
- Peptide Label: isoform X1
Protein Domains
Disintegrin   Peptidase M12B   Peptidase M12B propeptide   PLAC   TSP type-1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15072-F1-model_v2 AlphaFold O15072 1-1205 view protein structure

Promoters
RGD ID:6867684
Promoter ID:EPDNEW_H7007
Type:multiple initiation site
Name:ADAMTS3_1
Description:ADAM metallopeptidase with thrombospondin type 1 motif 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7008  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38472,569,358 - 72,569,418EPDNEW
RGD ID:6867686
Promoter ID:EPDNEW_H7008
Type:multiple initiation site
Name:ADAMTS3_2
Description:ADAM metallopeptidase with thrombospondin type 1 motif 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7007  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38472,569,908 - 72,569,968EPDNEW
RGD ID:6802028
Promoter ID:HG_KWN:48449
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000252164
Position:
Human AssemblyChrPosition (strand)Source
Build 36473,652,956 - 73,653,957 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:219 AgrOrtholog
COSMIC ADAMTS3 COSMIC
Ensembl Genes ENSG00000156140 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000286657 ENTREZGENE
  ENST00000286657.10 UniProtKB/Swiss-Prot
Gene3D-CATH 2.20.100.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.120.830 UniProtKB/Swiss-Prot
  3.40.1620.60 UniProtKB/Swiss-Prot
  3.40.390.10 UniProtKB/Swiss-Prot
GTEx ENSG00000156140 GTEx
HGNC ID HGNC:219 ENTREZGENE
Human Proteome Map ADAMTS3 Human Proteome Map
InterPro ADAM_CR_2 UniProtKB/Swiss-Prot
  ADAM_spacer1 UniProtKB/Swiss-Prot
  ADAMTS/ADAMTS-like UniProtKB/Swiss-Prot
  ADAMTS_ADAMTS-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADAMTS_CR_3 UniProtKB/Swiss-Prot
  MetalloPept_cat_dom_sf UniProtKB/Swiss-Prot
  Peptidase_M12B UniProtKB/Swiss-Prot
  Peptidase_M12B_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1_rpt_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9508 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9508 ENTREZGENE
OMIM 605011 OMIM
PANTHER A DISINTEGRIN AND METALLOPROTEINASE WITH THROMBOSPONDIN MOTIFS 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADAMTS A DISINTEGRIN AND METALLOPROTEASE WITH THROMBOSPONDIN MOTIFS PROTEASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ADAM_CR_2 UniProtKB/Swiss-Prot
  ADAM_CR_3 UniProtKB/Swiss-Prot
  ADAM_spacer1 UniProtKB/Swiss-Prot
  Pep_M12B_propep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Reprolysin UniProtKB/Swiss-Prot
  TSP1_ADAMTS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP_1 UniProtKB/Swiss-Prot
PharmGKB PA24547 PharmGKB
PRINTS ADAMTSFAMILY UniProtKB/Swiss-Prot
PROSITE ADAM_MEPRO UniProtKB/Swiss-Prot
  PLAC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TSP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Metalloproteases ('zincins'), catalytic domain UniProtKB/Swiss-Prot
  SSF82895 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A1L3U9 ENTREZGENE
  ATS3_HUMAN UniProtKB/Swiss-Prot
  B7Z2U9_HUMAN UniProtKB/TrEMBL
  O15072 ENTREZGENE
  Q96AY5_HUMAN UniProtKB/TrEMBL
  Q9BXZ8 ENTREZGENE
UniProt Secondary A1L3U9 UniProtKB/Swiss-Prot
  Q9BXZ8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 ADAMTS3  ADAM metallopeptidase with thrombospondin type 1 motif 3  ADAMTS3  ADAM metallopeptidase with thrombospondin type 1 motif, 3  Symbol and/or name change 5135510 APPROVED