ADAMTS14 (ADAM metallopeptidase with thrombospondin type 1 motif 14) - Rat Genome Database

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Gene: ADAMTS14 (ADAM metallopeptidase with thrombospondin type 1 motif 14) Homo sapiens
Analyze
Symbol: ADAMTS14
Name: ADAM metallopeptidase with thrombospondin type 1 motif 14
RGD ID: 1318933
HGNC Page HGNC:14899
Description: Predicted to enable metalloendopeptidase activity. Predicted to be involved in extracellular matrix organization. Predicted to act upstream of or within collagen fibril organization. Predicted to be located in extracellular region. Predicted to be active in extracellular matrix. Implicated in osteoarthritis; primary progressive multiple sclerosis; and relapsing-remitting multiple sclerosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: A disintegrin and metalloproteinase with thrombospondin motifs 14; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14; ADAM metallopeptidase with thrombospondin type 1 motif, 14; ADAM-TS 14; ADAM-TS14; ADAMTS-14; FLJ32820; metalloprotease-disintegrin protease
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381070,672,506 - 70,762,441 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1070,672,506 - 70,762,441 (+)EnsemblGRCh38hg38GRCh38
GRCh371072,432,262 - 72,522,197 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361072,102,565 - 72,192,203 (+)NCBINCBI36Build 36hg18NCBI36
Build 341072,102,564 - 72,190,664NCBI
Celera1065,714,785 - 65,804,152 (+)NCBICelera
Cytogenetic Map10q22.1NCBI
HuRef1066,426,030 - 66,515,714 (+)NCBIHuRef
CHM1_11072,714,821 - 72,804,912 (+)NCBICHM1_1
T2T-CHM13v2.01071,542,163 - 71,632,194 (+)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

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Osteoarthritis  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Genetic association between polymorphisms in the ADAMTS14 gene and multiple sclerosis. Goertsches R, etal., J Neuroimmunol. 2005 Jul;164(1-2):140-7.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Association of a nsSNP in ADAMTS14 to some osteoarthritis phenotypes. Rodriguez-Lopez J, etal., Osteoarthritis Cartilage. 2009 Mar;17(3):321-7. Epub 2008 Sep 14.
Additional References at PubMed
PMID:11741898   PMID:11779638   PMID:11867212   PMID:15146197   PMID:16385451   PMID:19851299   PMID:20378664   PMID:20379614   PMID:21254220   PMID:21873635   PMID:22205175   PMID:23491141  
PMID:23728906   PMID:24301791   PMID:25638164   PMID:25863161   PMID:27463966   PMID:28231306   PMID:30266746   PMID:30317540   PMID:33300067   PMID:33932142   PMID:33961781   PMID:34145804  
PMID:34856162   PMID:35572505   PMID:36658113   PMID:37550675   PMID:37725302   PMID:37929635  


Genomics

Comparative Map Data
ADAMTS14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381070,672,506 - 70,762,441 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1070,672,506 - 70,762,441 (+)EnsemblGRCh38hg38GRCh38
GRCh371072,432,262 - 72,522,197 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361072,102,565 - 72,192,203 (+)NCBINCBI36Build 36hg18NCBI36
Build 341072,102,564 - 72,190,664NCBI
Celera1065,714,785 - 65,804,152 (+)NCBICelera
Cytogenetic Map10q22.1NCBI
HuRef1066,426,030 - 66,515,714 (+)NCBIHuRef
CHM1_11072,714,821 - 72,804,912 (+)NCBICHM1_1
T2T-CHM13v2.01071,542,163 - 71,632,194 (+)NCBIT2T-CHM13v2.0
Adamts14
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391061,032,886 - 61,109,447 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1061,032,891 - 61,109,217 (-)EnsemblGRCm39 Ensembl
GRCm381061,197,112 - 61,273,419 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1061,197,112 - 61,273,438 (-)EnsemblGRCm38mm10GRCm38
MGSCv371060,659,860 - 60,736,186 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361060,592,469 - 60,668,795 (-)NCBIMGSCv36mm8
Celera1062,298,060 - 62,374,540 (-)NCBICelera
Cytogenetic Map10B4NCBI
cM Map1032.16NCBI
Adamts14
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82029,685,876 - 29,762,685 (-)NCBIGRCr8
mRatBN7.22029,143,029 - 29,219,846 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2029,144,354 - 29,219,866 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2030,159,025 - 30,235,831 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02029,545,330 - 29,622,130 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02030,287,790 - 30,364,590 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02030,812,319 - 30,888,936 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2030,812,353 - 30,888,751 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02032,601,731 - 32,679,935 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42028,555,684 - 28,631,824 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12028,569,485 - 28,644,150 (-)NCBI
Celera2030,577,661 - 30,652,835 (-)NCBICelera
Cytogenetic Map20q11NCBI
Adamts14
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543720,593,739 - 20,664,075 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543720,592,278 - 20,664,075 (-)NCBIChiLan1.0ChiLan1.0
ADAMTS14
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2882,825,453 - 82,913,006 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11082,830,784 - 82,918,318 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01067,145,400 - 67,232,934 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11069,671,222 - 69,758,229 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1069,671,222 - 69,758,229 (+)Ensemblpanpan1.1panPan2
ADAMTS14
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1421,534,309 - 21,612,528 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl421,534,006 - 21,611,987 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha421,666,773 - 21,744,617 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0421,808,447 - 21,887,057 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl421,808,110 - 21,886,516 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1421,705,614 - 21,784,173 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0421,911,885 - 21,989,520 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0422,263,803 - 22,341,640 (+)NCBIUU_Cfam_GSD_1.0
Adamts14
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721359,458,241 - 59,532,953 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365217,952,365 - 8,025,614 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365217,951,176 - 8,025,666 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADAMTS14
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1473,538,090 - 73,653,560 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11473,565,158 - 73,657,257 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21479,385,991 - 79,503,129 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ADAMTS14
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1960,538,718 - 60,625,903 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl960,540,303 - 60,625,570 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604821,263,324 - 21,350,304 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Adamts14
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247544,724,591 - 4,795,127 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247544,724,633 - 4,805,672 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ADAMTS14
99 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 copy number loss See cases [RCV000052530] Chr10:62229688..74468143 [GRCh38]
Chr10:63989447..76227901 [GRCh37]
Chr10:63659453..75897907 [NCBI36]
Chr10:10q21.2-22.2		 pathogenic
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 copy number loss See cases [RCV000052511] Chr10:58436466..74415216 [GRCh38]
Chr10:60196226..76174974 [GRCh37]
Chr10:59866232..75844980 [NCBI36]
Chr10:10q21.1-22.2		 pathogenic
NM_080722.3(ADAMTS14):c.1722C>T (p.Ser574=) single nucleotide variant Malignant melanoma [RCV000069018] Chr10:70738964 [GRCh38]
Chr10:72498720 [GRCh37]
Chr10:72168726 [NCBI36]
Chr10:10q22.1		 not provided
NM_080722.3(ADAMTS14):c.3022G>A (p.Asp1008Asn) single nucleotide variant Malignant melanoma [RCV000069019] Chr10:70758046 [GRCh38]
Chr10:72517802 [GRCh37]
Chr10:72187808 [NCBI36]
Chr10:10q22.1		 not provided
NM_080722.3(ADAMTS14):c.3181G>A (p.Glu1061Lys) single nucleotide variant Malignant melanoma [RCV000069020] Chr10:70760362 [GRCh38]
Chr10:72520118 [GRCh37]
Chr10:72190124 [NCBI36]
Chr10:10q22.1		 not provided
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2		 pathogenic
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 copy number gain See cases [RCV000135438] Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3		 pathogenic
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 copy number loss See cases [RCV000136658] Chr10:63402579..75296099 [GRCh38]
Chr10:65162339..77055857 [GRCh37]
Chr10:64832345..76725863 [NCBI36]
Chr10:10q21.3-22.2		 pathogenic|likely benign
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2		 pathogenic
GRCh38/hg38 10q22.1(chr10:70596378-71288228)x3 copy number gain See cases [RCV000141888] Chr10:70596378..71288228 [GRCh38]
Chr10:72356134..73047985 [GRCh37]
Chr10:72026140..72717991 [NCBI36]
Chr10:10q22.1		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_080722.4(ADAMTS14):c.1189G>A (p.Ala397Thr) single nucleotide variant Inborn genetic diseases [RCV003290269] Chr10:70732340 [GRCh38]
Chr10:72492096 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.2867G>A (p.Arg956Gln) single nucleotide variant Inborn genetic diseases [RCV003256180] Chr10:70753937 [GRCh38]
Chr10:72513693 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.2035G>A (p.Val679Ile) single nucleotide variant Inborn genetic diseases [RCV003249077] Chr10:70743658 [GRCh38]
Chr10:72503414 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.3016G>A (p.Glu1006Lys) single nucleotide variant Inborn genetic diseases [RCV003241912] Chr10:70758040 [GRCh38]
Chr10:72517796 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.1841G>A (p.Arg614Gln) single nucleotide variant Inborn genetic diseases [RCV003296047] Chr10:70741079 [GRCh38]
Chr10:72500835 [GRCh37]
Chr10:10q22.1		 uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
NM_080722.4(ADAMTS14):c.1927G>A (p.Ala643Thr) single nucleotide variant Inborn genetic diseases [RCV003245879] Chr10:70743550 [GRCh38]
Chr10:72503306 [GRCh37]
Chr10:10q22.1		 likely benign
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32		 pathogenic
GRCh37/hg19 10q22.1(chr10:72448845-72450392)x0 copy number loss not provided [RCV000749670] Chr10:72448845..72450392 [GRCh37]
Chr10:10q22.1		 benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_080722.4(ADAMTS14):c.735C>T (p.Gly245=) single nucleotide variant not provided [RCV000970862] Chr10:70708643 [GRCh38]
Chr10:72468399 [GRCh37]
Chr10:10q22.1		 benign
NM_080722.4(ADAMTS14):c.870+3G>A single nucleotide variant not provided [RCV000881158] Chr10:70708781 [GRCh38]
Chr10:72468537 [GRCh37]
Chr10:10q22.1		 benign
NM_080722.4(ADAMTS14):c.524C>T (p.Ala175Val) single nucleotide variant not provided [RCV000923711] Chr10:70702313 [GRCh38]
Chr10:72462069 [GRCh37]
Chr10:10q22.1		 likely benign
NM_080722.4(ADAMTS14):c.783C>T (p.Ile261=) single nucleotide variant not provided [RCV000923712] Chr10:70708691 [GRCh38]
Chr10:72468447 [GRCh37]
Chr10:10q22.1		 likely benign
NM_080722.4(ADAMTS14):c.516C>T (p.Asp172=) single nucleotide variant not provided [RCV000968180] Chr10:70674989 [GRCh38]
Chr10:72434745 [GRCh37]
Chr10:10q22.1		 benign
NM_080722.4(ADAMTS14):c.421C>T (p.Arg141Trp) single nucleotide variant Inborn genetic diseases [RCV003269762] Chr10:70674894 [GRCh38]
Chr10:72434650 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.446G>A (p.Arg149Gln) single nucleotide variant Inborn genetic diseases [RCV003239960] Chr10:70674919 [GRCh38]
Chr10:72434675 [GRCh37]
Chr10:10q22.1		 likely benign
NM_080722.4(ADAMTS14):c.3146A>G (p.Glu1049Gly) single nucleotide variant not provided [RCV001710584] Chr10:70758253 [GRCh38]
Chr10:72518009 [GRCh37]
Chr10:10q22.1		 benign
NM_080722.4(ADAMTS14):c.1318C>T (p.Arg440Cys) single nucleotide variant Fraser syndrome 3 [RCV001251010] Chr10:70733994 [GRCh38]
Chr10:72493750 [GRCh37]
Chr10:10q22.1		 uncertain significance
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) copy number loss not specified [RCV002052875] Chr10:68735254..78885714 [GRCh37]
Chr10:10q21.3-22.3		 pathogenic
NM_080722.4(ADAMTS14):c.2440A>G (p.Thr814Ala) single nucleotide variant Inborn genetic diseases [RCV003254072] Chr10:70751490 [GRCh38]
Chr10:72511246 [GRCh37]
Chr10:10q22.1		 likely benign
NM_080722.4(ADAMTS14):c.736G>T (p.Asp246Tyr) single nucleotide variant Inborn genetic diseases [RCV003280077] Chr10:70708644 [GRCh38]
Chr10:72468400 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.2479G>A (p.Val827Ile) single nucleotide variant Inborn genetic diseases [RCV003300995] Chr10:70751529 [GRCh38]
Chr10:72511285 [GRCh37]
Chr10:10q22.1		 likely benign
NM_080722.4(ADAMTS14):c.2822A>G (p.Asn941Ser) single nucleotide variant Inborn genetic diseases [RCV002774165] Chr10:70753892 [GRCh38]
Chr10:72513648 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.1564C>A (p.Pro522Thr) single nucleotide variant Inborn genetic diseases [RCV002972933] Chr10:70736758 [GRCh38]
Chr10:72496514 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.2435C>G (p.Pro812Arg) single nucleotide variant Inborn genetic diseases [RCV002683129] Chr10:70751485 [GRCh38]
Chr10:72511241 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.1478G>T (p.Cys493Phe) single nucleotide variant Inborn genetic diseases [RCV002990364] Chr10:70735294 [GRCh38]
Chr10:72495050 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.1277C>A (p.Ala426Glu) single nucleotide variant Inborn genetic diseases [RCV002817605] Chr10:70733953 [GRCh38]
Chr10:72493709 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.300G>T (p.Arg100Ser) single nucleotide variant Inborn genetic diseases [RCV002818878] Chr10:70674773 [GRCh38]
Chr10:72434529 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.2983T>C (p.Cys995Arg) single nucleotide variant Inborn genetic diseases [RCV002864960] Chr10:70758007 [GRCh38]
Chr10:72517763 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.151C>T (p.Arg51Cys) single nucleotide variant Inborn genetic diseases [RCV002973296] Chr10:70674624 [GRCh38]
Chr10:72434380 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.3191C>T (p.Thr1064Met) single nucleotide variant Inborn genetic diseases [RCV002992275] Chr10:70760372 [GRCh38]
Chr10:72520128 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.3512C>T (p.Pro1171Leu) single nucleotide variant Inborn genetic diseases [RCV002794057] Chr10:70760693 [GRCh38]
Chr10:72520449 [GRCh37]
Chr10:10q22.1		 likely benign
NM_080722.4(ADAMTS14):c.2156C>T (p.Thr719Met) single nucleotide variant Inborn genetic diseases [RCV002978932] Chr10:70744163 [GRCh38]
Chr10:72503919 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.2009G>A (p.Arg670His) single nucleotide variant Inborn genetic diseases [RCV002759016] Chr10:70743632 [GRCh38]
Chr10:72503388 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.3179C>T (p.Thr1060Met) single nucleotide variant Inborn genetic diseases [RCV002660346] Chr10:70760360 [GRCh38]
Chr10:72520116 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.145C>T (p.Arg49Trp) single nucleotide variant Inborn genetic diseases [RCV002707257] Chr10:70674618 [GRCh38]
Chr10:72434374 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.2815C>A (p.Leu939Ile) single nucleotide variant Inborn genetic diseases [RCV002886970] Chr10:70753885 [GRCh38]
Chr10:72513641 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.64G>T (p.Ala22Ser) single nucleotide variant Inborn genetic diseases [RCV002758863] Chr10:70672866 [GRCh38]
Chr10:72432622 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.642G>T (p.Gln214His) single nucleotide variant Inborn genetic diseases [RCV002761952] Chr10:70702431 [GRCh38]
Chr10:72462187 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.1538C>T (p.Pro513Leu) single nucleotide variant Inborn genetic diseases [RCV002743437] Chr10:70736732 [GRCh38]
Chr10:72496488 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.481A>G (p.Met161Val) single nucleotide variant Inborn genetic diseases [RCV002873180] Chr10:70674954 [GRCh38]
Chr10:72434710 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.1898G>A (p.Ser633Asn) single nucleotide variant Inborn genetic diseases [RCV002916945] Chr10:70741136 [GRCh38]
Chr10:72500892 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.278G>A (p.Gly93Glu) single nucleotide variant Inborn genetic diseases [RCV002983459] Chr10:70674751 [GRCh38]
Chr10:72434507 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.3547A>G (p.Thr1183Ala) single nucleotide variant Inborn genetic diseases [RCV002645446] Chr10:70760728 [GRCh38]
Chr10:72520484 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.2976G>T (p.Gln992His) single nucleotide variant Inborn genetic diseases [RCV002743980] Chr10:70758000 [GRCh38]
Chr10:72517756 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.1213G>A (p.Gly405Ser) single nucleotide variant Inborn genetic diseases [RCV002697193] Chr10:70733889 [GRCh38]
Chr10:72493645 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.365G>A (p.Arg122Gln) single nucleotide variant Inborn genetic diseases [RCV002743452] Chr10:70674838 [GRCh38]
Chr10:72434594 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.1009C>T (p.Arg337Cys) single nucleotide variant Inborn genetic diseases [RCV002896942] Chr10:70730156 [GRCh38]
Chr10:72489912 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.1876G>A (p.Val626Met) single nucleotide variant Inborn genetic diseases [RCV002855568] Chr10:70741114 [GRCh38]
Chr10:72500870 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.2801A>G (p.Gln934Arg) single nucleotide variant Inborn genetic diseases [RCV002934103] Chr10:70753871 [GRCh38]
Chr10:72513627 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.905T>C (p.Val302Ala) single nucleotide variant Inborn genetic diseases [RCV002896627] Chr10:70729328 [GRCh38]
Chr10:72489084 [GRCh37]
Chr10:10q22.1		 likely benign
NM_080722.4(ADAMTS14):c.3293C>T (p.Ser1098Leu) single nucleotide variant Inborn genetic diseases [RCV002809463] Chr10:70760474 [GRCh38]
Chr10:72520230 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.2146G>A (p.Val716Met) single nucleotide variant Inborn genetic diseases [RCV002703065] Chr10:70744153 [GRCh38]
Chr10:72503909 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.2407C>T (p.Pro803Ser) single nucleotide variant Inborn genetic diseases [RCV002670364] Chr10:70749965 [GRCh38]
Chr10:72509721 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.3363A>T (p.Leu1121Phe) single nucleotide variant Inborn genetic diseases [RCV002809549] Chr10:70760544 [GRCh38]
Chr10:72520300 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.770G>A (p.Gly257Asp) single nucleotide variant Inborn genetic diseases [RCV002768776] Chr10:70708678 [GRCh38]
Chr10:72468434 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.3147A>C (p.Glu1049Asp) single nucleotide variant Inborn genetic diseases [RCV002748666] Chr10:70758254 [GRCh38]
Chr10:72518010 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.1594G>A (p.Gly532Ser) single nucleotide variant Inborn genetic diseases [RCV002964590] Chr10:70736788 [GRCh38]
Chr10:72496544 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.2860G>A (p.Gly954Arg) single nucleotide variant Inborn genetic diseases [RCV002670018] Chr10:70753930 [GRCh38]
Chr10:72513686 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.970G>A (p.Glu324Lys) single nucleotide variant Inborn genetic diseases [RCV002944709] Chr10:70730117 [GRCh38]
Chr10:72489873 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.2714C>T (p.Pro905Leu) single nucleotide variant Inborn genetic diseases [RCV002680408] Chr10:70752212 [GRCh38]
Chr10:72511968 [GRCh37]
Chr10:10q22.1		 likely benign
NM_080722.4(ADAMTS14):c.2065G>T (p.Gly689Cys) single nucleotide variant Inborn genetic diseases [RCV002679136] Chr10:70744072 [GRCh38]
Chr10:72503828 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.2455C>T (p.Arg819Cys) single nucleotide variant Inborn genetic diseases [RCV002723167] Chr10:70751505 [GRCh38]
Chr10:72511261 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.2273A>G (p.Asn758Ser) single nucleotide variant Inborn genetic diseases [RCV002656195] Chr10:70749831 [GRCh38]
Chr10:72509587 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.2405T>C (p.Leu802Pro) single nucleotide variant Inborn genetic diseases [RCV002677908] Chr10:70749963 [GRCh38]
Chr10:72509719 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.876T>G (p.Asp292Glu) single nucleotide variant Inborn genetic diseases [RCV003280624] Chr10:70729299 [GRCh38]
Chr10:72489055 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.2695C>T (p.Arg899Trp) single nucleotide variant Inborn genetic diseases [RCV003196972] Chr10:70752193 [GRCh38]
Chr10:72511949 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.392G>T (p.Gly131Val) single nucleotide variant Inborn genetic diseases [RCV003208270] Chr10:70674865 [GRCh38]
Chr10:72434621 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.1619G>A (p.Cys540Tyr) single nucleotide variant Inborn genetic diseases [RCV003195950] Chr10:70738861 [GRCh38]
Chr10:72498617 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.1210C>T (p.Leu404Phe) single nucleotide variant Inborn genetic diseases [RCV003199391] Chr10:70733886 [GRCh38]
Chr10:72493642 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.2153G>A (p.Gly718Glu) single nucleotide variant Inborn genetic diseases [RCV003207359] Chr10:70744160 [GRCh38]
Chr10:72503916 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.358C>T (p.Arg120Cys) single nucleotide variant Inborn genetic diseases [RCV003197397] Chr10:70674831 [GRCh38]
Chr10:72434587 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.929G>A (p.Arg310His) single nucleotide variant Inborn genetic diseases [RCV003173156] Chr10:70729352 [GRCh38]
Chr10:72489108 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.1111C>T (p.Pro371Ser) single nucleotide variant Inborn genetic diseases [RCV003185456] Chr10:70732262 [GRCh38]
Chr10:72492018 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.131G>A (p.Cys44Tyr) single nucleotide variant Inborn genetic diseases [RCV003304042] Chr10:70674604 [GRCh38]
Chr10:72434360 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.1442A>C (p.Gln481Pro) single nucleotide variant Inborn genetic diseases [RCV003208450] Chr10:70735258 [GRCh38]
Chr10:72495014 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.626G>A (p.Arg209Gln) single nucleotide variant Inborn genetic diseases [RCV003188309] Chr10:70702415 [GRCh38]
Chr10:72462171 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.3440G>A (p.Arg1147Gln) single nucleotide variant Inborn genetic diseases [RCV003185377] Chr10:70760621 [GRCh38]
Chr10:72520377 [GRCh37]
Chr10:10q22.1		 likely benign
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
NM_080722.4(ADAMTS14):c.1912G>A (p.Glu638Lys) single nucleotide variant Inborn genetic diseases [RCV003287401] Chr10:70741150 [GRCh38]
Chr10:72500906 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.746G>A (p.Arg249Gln) single nucleotide variant Inborn genetic diseases [RCV003265408] Chr10:70708654 [GRCh38]
Chr10:72468410 [GRCh37]
Chr10:10q22.1		 uncertain significance
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
NM_080722.4(ADAMTS14):c.2077G>A (p.Glu693Lys) single nucleotide variant Inborn genetic diseases [RCV003359980] Chr10:70744084 [GRCh38]
Chr10:72503840 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.2863G>T (p.Asp955Tyr) single nucleotide variant Inborn genetic diseases [RCV003345548] Chr10:70753933 [GRCh38]
Chr10:72513689 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.2699G>A (p.Arg900His) single nucleotide variant Inborn genetic diseases [RCV003373735] Chr10:70752197 [GRCh38]
Chr10:72511953 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.1081C>T (p.Arg361Trp) single nucleotide variant Inborn genetic diseases [RCV003364014] Chr10:70730228 [GRCh38]
Chr10:72489984 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.2782G>C (p.Val928Leu) single nucleotide variant Inborn genetic diseases [RCV003365854] Chr10:70753852 [GRCh38]
Chr10:72513608 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.2971C>T (p.Arg991Trp) single nucleotide variant Inborn genetic diseases [RCV003370858] Chr10:70757995 [GRCh38]
Chr10:72517751 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.1915C>A (p.Pro639Thr) single nucleotide variant Inborn genetic diseases [RCV003386371] Chr10:70741153 [GRCh38]
Chr10:72500909 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_080722.4(ADAMTS14):c.2437C>T (p.Pro813Ser) single nucleotide variant Inborn genetic diseases [RCV003371145] Chr10:70751487 [GRCh38]
Chr10:72511243 [GRCh37]
Chr10:10q22.1		 uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
NM_080722.4(ADAMTS14):c.445C>T (p.Arg149Trp) single nucleotide variant not provided [RCV003417470] Chr10:70674918 [GRCh38]
Chr10:72434674 [GRCh37]
Chr10:10q22.1		 likely benign
NM_080722.4(ADAMTS14):c.1104G>A (p.Gly368=) single nucleotide variant not provided [RCV003417471] Chr10:70732255 [GRCh38]
Chr10:72492011 [GRCh37]
Chr10:10q22.1		 likely benign
NM_080722.4(ADAMTS14):c.1290G>A (p.Gln430=) single nucleotide variant not provided [RCV003417472] Chr10:70733966 [GRCh38]
Chr10:72493722 [GRCh37]
Chr10:10q22.1		 likely benign
NM_080722.4(ADAMTS14):c.3588G>A (p.Thr1196=) single nucleotide variant not provided [RCV003417473] Chr10:70760769 [GRCh38]
Chr10:72520525 [GRCh37]
Chr10:10q22.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1964
Count of miRNA genes:594
Interacting mature miRNAs:689
Transcripts:ENST00000373207, ENST00000373208
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.

Markers in Region
D10S1685  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371072,478,914 - 72,479,194UniSTSGRCh37
Build 361072,148,920 - 72,149,200RGDNCBI36
Celera1065,760,877 - 65,761,155RGD
Cytogenetic Map10q21UniSTS
HuRef1066,472,426 - 66,472,704UniSTS
Marshfield Genetic Map1091.13UniSTS
Marshfield Genetic Map1091.13RGD
Genethon Genetic Map1093.9UniSTS
deCODE Assembly Map1089.24UniSTS
ADAMTS14_2587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371072,520,133 - 72,520,823UniSTSGRCh37
Build 361072,190,139 - 72,190,829RGDNCBI36
Celera1065,802,088 - 65,802,778RGD
HuRef1066,513,650 - 66,514,340UniSTS
RH17783  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371072,510,513 - 72,510,684UniSTSGRCh37
Build 361072,180,519 - 72,180,690RGDNCBI36
Celera1065,792,472 - 65,792,643RGD
Cytogenetic Map10q21UniSTS
HuRef1066,504,004 - 66,504,175UniSTS
GeneMap99-GB4 RH Map10370.57UniSTS


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 entire extraembryonic component
High
Medium 92 20 10 6 38 6 343 15 426 6 84 101 1 9 327 1
Low 1828 1042 483 226 652 124 2174 732 2621 200 915 919 109 637 1096 1
Below cutoff 495 1874 1199 375 865 320 1781 1414 674 178 429 559 63 556 1328 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_080722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_139155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF358666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF366351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ345098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL358817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN398634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000373207   ⟹   ENSP00000362303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1070,672,506 - 70,762,441 (+)Ensembl
RefSeq Acc Id: ENST00000373208   ⟹   ENSP00000362304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1070,672,803 - 70,762,441 (+)Ensembl
RefSeq Acc Id: NM_080722   ⟹   NP_542453
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381070,672,506 - 70,762,441 (+)NCBI
GRCh371072,432,559 - 72,522,197 (+)RGD
Build 361072,102,565 - 72,192,203 (+)NCBI Archive
Celera1065,714,785 - 65,804,152 (+)RGD
HuRef1066,426,030 - 66,515,714 (+)RGD
CHM1_11072,714,821 - 72,804,912 (+)NCBI
T2T-CHM13v2.01071,542,163 - 71,632,194 (+)NCBI
Sequence:
RefSeq Acc Id: NM_139155   ⟹   NP_631894
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381070,672,506 - 70,762,441 (+)NCBI
GRCh371072,432,559 - 72,522,197 (+)RGD
Build 361072,102,565 - 72,192,203 (+)NCBI Archive
Celera1065,714,785 - 65,804,152 (+)RGD
HuRef1066,426,030 - 66,515,714 (+)RGD
CHM1_11072,714,821 - 72,804,912 (+)NCBI
T2T-CHM13v2.01071,542,163 - 71,632,194 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011539300   ⟹   XP_011537602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381070,672,506 - 70,762,441 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011539301   ⟹   XP_011537603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381070,725,179 - 70,762,441 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011539302   ⟹   XP_011537604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381070,718,777 - 70,762,441 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011539303   ⟹   XP_011537605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381070,672,506 - 70,751,471 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011539306   ⟹   XP_011537608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381070,672,506 - 70,751,568 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011539307   ⟹   XP_011537609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381070,672,506 - 70,751,471 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011539308   ⟹   XP_011537610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381070,672,506 - 70,758,025 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011539309   ⟹   XP_011537611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381070,734,048 - 70,762,441 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054364860   ⟹   XP_054220835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01071,542,163 - 71,632,194 (+)NCBI
RefSeq Acc Id: XM_054364861   ⟹   XP_054220836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01071,594,954 - 71,632,194 (+)NCBI
RefSeq Acc Id: XM_054364862   ⟹   XP_054220837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01071,588,558 - 71,632,194 (+)NCBI
RefSeq Acc Id: XM_054364863   ⟹   XP_054220838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01071,542,163 - 71,621,226 (+)NCBI
RefSeq Acc Id: XM_054364864   ⟹   XP_054220839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01071,542,163 - 71,621,226 (+)NCBI
RefSeq Acc Id: XM_054364865   ⟹   XP_054220840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01071,542,163 - 71,621,323 (+)NCBI
RefSeq Acc Id: XM_054364866   ⟹   XP_054220841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01071,542,163 - 71,627,781 (+)NCBI
RefSeq Acc Id: XM_054364867   ⟹   XP_054220842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01071,603,805 - 71,632,194 (+)NCBI
RefSeq Acc Id: XR_001747025
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381070,672,506 - 70,751,559 (+)NCBI
Sequence:
RefSeq Acc Id: XR_008488168
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01071,542,163 - 71,621,314 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_631894   ⟸   NM_139155
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8WXS8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_542453   ⟸   NM_080722
- Peptide Label: isoform 2 preproprotein
- UniProtKB: Q8TE55 (UniProtKB/Swiss-Prot),   Q5T4G1 (UniProtKB/Swiss-Prot),   Q5T4G0 (UniProtKB/Swiss-Prot),   Q8TEY8 (UniProtKB/Swiss-Prot),   Q8WXS8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011537602   ⟸   XM_011539300
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011537610   ⟸   XM_011539308
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011537608   ⟸   XM_011539306
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011537605   ⟸   XM_011539303
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011537609   ⟸   XM_011539307
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011537604   ⟸   XM_011539302
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011537603   ⟸   XM_011539301
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011537611   ⟸   XM_011539309
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000362304   ⟸   ENST00000373208
RefSeq Acc Id: ENSP00000362303   ⟸   ENST00000373207
RefSeq Acc Id: XP_054220835   ⟸   XM_054364860
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054220841   ⟸   XM_054364866
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054220840   ⟸   XM_054364865
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054220838   ⟸   XM_054364863
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054220839   ⟸   XM_054364864
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054220837   ⟸   XM_054364862
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054220836   ⟸   XM_054364861
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054220842   ⟸   XM_054364867
- Peptide Label: isoform X5
Protein Domains
Disintegrin   Peptidase M12B   PLAC   TSP type-1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WXS8-F1-model_v2 AlphaFold Q8WXS8 1-1223 view protein structure

Promoters
RGD ID:7217771
Promoter ID:EPDNEW_H14631
Type:initiation region
Name:ADAMTS14_1
Description:ADAM metallopeptidase with thrombospondin type 1 motif 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381070,672,605 - 70,672,665EPDNEW
RGD ID:6787316
Promoter ID:HG_KWN:9929
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   NB4
Transcripts:ENST00000373207,   ENST00000373208
Position:
Human AssemblyChrPosition (strand)Source
Build 361072,101,941 - 72,102,441 (+)MPROMDB
RGD ID:6787314
Promoter ID:HG_KWN:9930
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC001JRI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361072,163,216 - 72,163,716 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14899 AgrOrtholog
COSMIC ADAMTS14 COSMIC
Ensembl Genes ENSG00000138316 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000373207 ENTREZGENE
  ENST00000373207.2 UniProtKB/Swiss-Prot
  ENST00000373208 ENTREZGENE
  ENST00000373208.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.20.100.10 UniProtKB/Swiss-Prot
  2.60.120.830 UniProtKB/Swiss-Prot
  3.40.1620.60 UniProtKB/Swiss-Prot
  3.40.390.10 UniProtKB/Swiss-Prot
GTEx ENSG00000138316 GTEx
HGNC ID HGNC:14899 ENTREZGENE
Human Proteome Map ADAMTS14 Human Proteome Map
InterPro ADAM_CR_2 UniProtKB/Swiss-Prot
  ADAM_Cys-rich UniProtKB/Swiss-Prot
  ADAM_spacer1 UniProtKB/Swiss-Prot
  ADAMTS/ADAMTS-like UniProtKB/Swiss-Prot
  ADAMTS_CR_3 UniProtKB/Swiss-Prot
  MetalloPept_cat_dom_sf UniProtKB/Swiss-Prot
  Peptidase_M12B UniProtKB/Swiss-Prot
  Peptidase_M12B_N UniProtKB/Swiss-Prot
  PLAC UniProtKB/Swiss-Prot
  TSP1_rpt UniProtKB/Swiss-Prot
  TSP1_rpt_sf UniProtKB/Swiss-Prot
KEGG Report hsa:140766 UniProtKB/Swiss-Prot
NCBI Gene 140766 ENTREZGENE
OMIM 607506 OMIM
PANTHER A DISINTEGRIN AND METALLOPROTEINASE WITH THROMBOSPONDIN MOTIFS 14 UniProtKB/Swiss-Prot
  ADAMTS A DISINTEGRIN AND METALLOPROTEASE WITH THROMBOSPONDIN MOTIFS PROTEASE UniProtKB/Swiss-Prot
Pfam ADAM_CR_2 UniProtKB/Swiss-Prot
  ADAM_CR_3 UniProtKB/Swiss-Prot
  ADAM_spacer1 UniProtKB/Swiss-Prot
  Pep_M12B_propep UniProtKB/Swiss-Prot
  Reprolysin UniProtKB/Swiss-Prot
  TSP1_ADAMTS UniProtKB/Swiss-Prot
  TSP_1 UniProtKB/Swiss-Prot
PharmGKB PA24540 PharmGKB
PRINTS ADAMTSFAMILY UniProtKB/Swiss-Prot
PROSITE ADAM_MEPRO UniProtKB/Swiss-Prot
  PLAC UniProtKB/Swiss-Prot
  TSP1 UniProtKB/Swiss-Prot
SMART ACR UniProtKB/Swiss-Prot
  TSP1 UniProtKB/Swiss-Prot
Superfamily-SCOP Metalloproteases ('zincins'), catalytic domain UniProtKB/Swiss-Prot
  SSF82895 UniProtKB/Swiss-Prot
UniProt ATS14_HUMAN UniProtKB/Swiss-Prot
  Q5T4G0 ENTREZGENE
  Q5T4G1 ENTREZGENE
  Q8TE55 ENTREZGENE
  Q8TEY8 ENTREZGENE
  Q8WXS8 ENTREZGENE
UniProt Secondary Q5T4G0 UniProtKB/Swiss-Prot
  Q5T4G1 UniProtKB/Swiss-Prot
  Q8TE55 UniProtKB/Swiss-Prot
  Q8TEY8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 ADAMTS14  ADAM metallopeptidase with thrombospondin type 1 motif 14  ADAMTS14  ADAM metallopeptidase with thrombospondin type 1 motif, 14  Symbol and/or name change 5135510 APPROVED