MVD (mevalonate diphosphate decarboxylase) - Rat Genome Database

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Gene: MVD (mevalonate diphosphate decarboxylase) Homo sapiens
Analyze
Symbol: MVD
Name: mevalonate diphosphate decarboxylase
RGD ID: 736074
HGNC Page HGNC:7529
Description: Enables Hsp70 protein binding activity; diphosphomevalonate decarboxylase activity; and protein homodimerization activity. Involved in isoprenoid biosynthetic process and positive regulation of cell population proliferation. Located in cytosol. Implicated in porokeratosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: diphosphomevalonate decarboxylase; FP17780; MDDase; mevalonate (diphospho) decarboxylase; mevalonate pyrophosphate decarboxylase; MPD; POROK7
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
GRCh381688,651,940 - 88,663,091 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1688,651,935 - 88,663,161 (-)EnsemblGRCh38hg38GRCh38
GRCh371688,718,348 - 88,729,499 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361687,245,849 - 87,256,996 (-)NCBINCBI36Build 36hg18NCBI36
Build 341687,245,848 - 87,256,996NCBI
Celera1673,788,020 - 73,799,160 (-)NCBICelera
Cytogenetic Map16q24.2NCBI
HuRef1674,412,379 - 74,423,531 (-)NCBIHuRef
CHM1_11690,129,698 - 90,140,847 (-)NCBICHM1_1
T2T-CHM13v2.01694,719,870 - 94,731,025 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(2,4,5-trichlorophenoxy)acetic acid  (ISO)
(R)-lipoic acid  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-diaminotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-hydroxypropanoic acid  (EXP)
22-Hydroxycholesterol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
acetohydrazide  (ISO)
aflatoxin B1  (EXP,ISO)
alachlor  (ISO)
aldehydo-D-glucosamine  (ISO)
aldrin  (ISO)
all-trans-retinoic acid  (ISO)
amiodarone  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
Archazolid B  (EXP)
aristolochic acid A  (EXP)
ATP  (EXP)
atrazine  (ISO)
avobenzone  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzo[ghi]perylene  (ISO)
beta-D-glucosamine  (ISO)
beta-naphthoflavone  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
bromobenzene  (ISO)
Butylbenzyl phthalate  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
caffeine  (ISO)
carbon nanotube  (ISO)
carmustine  (EXP)
celecoxib  (EXP)
chloroethene  (ISO)
chromium(6+)  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP,ISO)
CU-O LINKAGE  (EXP)
curcumin  (EXP)
cyclosporin A  (EXP)
cyproconazole  (ISO)
DDE  (EXP)
Di-n-hexyl phthalate  (ISO)
Di-n-octyl phthalate  (ISO)
diazinon  (EXP)
dibutyl phthalate  (ISO)
dichloromethane  (ISO)
Dicyclohexyl phthalate  (ISO)
diethyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diisobutyl phthalate  (ISO)
Diisodecyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethylarsinic acid  (ISO)
dinophysistoxin 1  (EXP)
dipentyl phthalate  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
flavonoids  (ISO)
fluoranthene  (ISO)
flusilazole  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
genistein  (EXP)
hexaconazole  (ISO)
hydrazine  (ISO)
hydroquinone O-beta-D-glucopyranoside  (EXP)
hypochlorous acid  (ISO)
iron atom  (ISO)
iron(0)  (ISO)
isobutanol  (EXP)
isotretinoin  (EXP)
ivermectin  (EXP)
ketoconazole  (ISO)
lead diacetate  (ISO)
leflunomide  (ISO)
lipoic acid  (ISO)
metformin  (ISO)
methamphetamine  (ISO)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
methylarsonic acid  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
Monobutylphthalate  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nickel sulfate  (EXP)
O-methyleugenol  (EXP)
obeticholic acid  (EXP)
okadaic acid  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phenylpropanolamine  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
silicon dioxide  (EXP,ISO)
simvastatin  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
succimer  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
tebuconazole  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topiramate  (ISO)
triadimefon  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
Triptolide  (ISO)
tunicamycin  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vitamin K  (ISO)
zaragozic acid A  (ISO)
zidovudine  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA)
cytosol  (IBA,IDA,IEA,TAS)
peroxisomal matrix  (ISO)
peroxisome  (IDA,ISO)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
3. Adverse effects of long-term exposure to bisphenol A during adulthood leading to hyperglycaemia and hypercholesterolemia in mice. Marmugi A, etal., Toxicology. 2014 Nov 5;325:133-43. doi: 10.1016/j.tox.2014.08.006. Epub 2014 Aug 26.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. Defects of cholesterol biosynthesis. Waterham HR FEBS Lett. 2006 Oct 9;580(23):5442-9. Epub 2006 Jul 20.
Additional References at PubMed
PMID:8626466   PMID:8769113   PMID:9270019   PMID:11792727   PMID:12477932   PMID:12646231   PMID:12736493   PMID:14680974   PMID:14972328   PMID:15489334   PMID:16169070   PMID:18660489  
PMID:18823933   PMID:19913121   PMID:20628086   PMID:21873635   PMID:22863883   PMID:25796446   PMID:26344197   PMID:26496610   PMID:26760575   PMID:28514442   PMID:28700943   PMID:29117863  
PMID:30575818   PMID:31091453   PMID:31207227   PMID:32687490   PMID:32767669   PMID:33001583   PMID:33961781   PMID:34135477   PMID:34373451   PMID:35256949   PMID:35271311   PMID:35831314  
PMID:35944360   PMID:36215168   PMID:37223481   PMID:37827155  


Genomics

Comparative Map Data
MVD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381688,651,940 - 88,663,091 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1688,651,935 - 88,663,161 (-)EnsemblGRCh38hg38GRCh38
GRCh371688,718,348 - 88,729,499 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361687,245,849 - 87,256,996 (-)NCBINCBI36Build 36hg18NCBI36
Build 341687,245,848 - 87,256,996NCBI
Celera1673,788,020 - 73,799,160 (-)NCBICelera
Cytogenetic Map16q24.2NCBI
HuRef1674,412,379 - 74,423,531 (-)NCBIHuRef
CHM1_11690,129,698 - 90,140,847 (-)NCBICHM1_1
T2T-CHM13v2.01694,719,870 - 94,731,025 (-)NCBIT2T-CHM13v2.0
Mvd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398123,160,335 - 123,170,161 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8123,160,340 - 123,170,161 (-)EnsemblGRCm39 Ensembl
GRCm388122,433,596 - 122,443,422 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8122,433,601 - 122,443,422 (-)EnsemblGRCm38mm10GRCm38
MGSCv378124,957,496 - 124,967,322 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368125,319,694 - 125,329,480 (-)NCBIMGSCv36mm8
Celera8126,662,705 - 126,672,531 (-)NCBICelera
Cytogenetic Map8E1NCBI
cM Map871.05NCBI
Mvd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81967,404,911 - 67,414,974 (-)NCBIGRCr8
mRatBN7.21950,496,366 - 50,506,429 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1950,496,367 - 50,507,971 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1957,291,544 - 57,301,618 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01957,971,299 - 57,981,362 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01960,190,162 - 60,200,236 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01955,258,910 - 55,268,933 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1955,258,905 - 55,268,951 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01965,967,921 - 65,978,403 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41952,722,306 - 52,732,312 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11952,727,186 - 52,737,193 (-)NCBI
Celera1949,735,851 - 49,745,874 (-)NCBICelera
Cytogenetic Map19q12NCBI
Mvd
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555412,579,074 - 2,581,821 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555412,578,584 - 2,581,823 (-)NCBIChiLan1.0ChiLan1.0
MVD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21898,425,011 - 98,436,132 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan116104,337,122 - 104,348,237 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01669,365,070 - 69,376,149 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11689,025,571 - 89,036,975 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1689,025,572 - 89,036,964 (-)Ensemblpanpan1.1panPan2
MVD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1564,683,146 - 64,691,576 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl564,682,276 - 64,691,073 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha564,693,894 - 64,702,261 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0564,902,561 - 64,910,915 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl564,902,588 - 64,910,915 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1564,928,745 - 64,937,076 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0564,760,442 - 64,768,801 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0565,166,481 - 65,174,835 (+)NCBIUU_Cfam_GSD_1.0
Mvd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934925,275,679 - 25,282,419 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366411,030,595 - 1,035,954 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366411,030,465 - 1,035,967 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MVD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl61,008,100 - 1,014,303 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.161,008,100 - 1,014,303 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
MVD
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1574,031,470 - 74,049,066 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl574,031,316 - 74,049,011 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660471,646,023 - 1,653,431 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mvd
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624746905,757 - 911,591 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624746905,919 - 911,591 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MVD
63 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 copy number gain See cases [RCV000050840] Chr16:78816291..90081985 [GRCh38]
Chr16:78850188..90148393 [GRCh37]
Chr16:77407689..88675894 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 copy number gain See cases [RCV000052423] Chr16:76873569..90081985 [GRCh38]
Chr16:76907466..90148393 [GRCh37]
Chr16:75464967..88675894 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 copy number gain See cases [RCV000052424] Chr16:82173150..90081985 [GRCh38]
Chr16:82206755..90148393 [GRCh37]
Chr16:80764256..88675894 [NCBI36]
Chr16:16q23.3-24.3		 pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:84707538-90081985)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|See cases [RCV000052425] Chr16:84707538..90081985 [GRCh38]
Chr16:84741144..90148393 [GRCh37]
Chr16:83298645..88675894 [NCBI36]
Chr16:16q24.1-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3 copy number gain See cases [RCV000052428] Chr16:87853401..90081985 [GRCh38]
Chr16:87887007..90148393 [GRCh37]
Chr16:86444508..88675894 [NCBI36]
Chr16:16q24.2-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1 copy number loss See cases [RCV000053380] Chr16:88640116..89530475 [GRCh38]
Chr16:88706524..89596883 [GRCh37]
Chr16:87234025..88124384 [NCBI36]
Chr16:16q24.2-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1 copy number loss See cases [RCV000053381] Chr16:88662702..89454555 [GRCh38]
Chr16:88729110..89520963 [GRCh37]
Chr16:87256611..88048464 [NCBI36]
Chr16:16q24.2-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1 copy number loss See cases [RCV000053362] Chr16:87306529..89269079 [GRCh38]
Chr16:87340135..89335487 [GRCh37]
Chr16:85897636..87862988 [NCBI36]
Chr16:16q24.2-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1 copy number loss See cases [RCV000053363] Chr16:88159660..89506042 [GRCh38]
Chr16:88193266..89572450 [GRCh37]
Chr16:86750767..88099951 [NCBI36]
Chr16:16q24.2-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 copy number gain See cases [RCV000135659] Chr16:83988570..90081985 [GRCh38]
Chr16:84022175..90148393 [GRCh37]
Chr16:82579676..88675894 [NCBI36]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 copy number gain See cases [RCV000136898] Chr16:80946659..90081985 [GRCh38]
Chr16:80980556..90148393 [GRCh37]
Chr16:79538057..88675894 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3 copy number gain See cases [RCV000138161] Chr16:87848216..90096995 [GRCh38]
Chr16:87881822..90163403 [GRCh37]
Chr16:86439323..88690904 [NCBI36]
Chr16:16q24.2-24.3		 likely pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 copy number gain See cases [RCV000137980] Chr16:83478453..89932910 [GRCh38]
Chr16:83512058..89999318 [GRCh37]
Chr16:82069559..88526819 [NCBI36]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 copy number gain See cases [RCV000139302] Chr16:75377981..90081992 [GRCh38]
Chr16:75411879..90148400 [GRCh37]
Chr16:73969380..88675901 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:88662702-88719577)x1 copy number loss See cases [RCV000140351] Chr16:88662702..88719577 [GRCh38]
Chr16:88729110..88785985 [GRCh37]
Chr16:87256611..87313486 [NCBI36]
Chr16:16q24.2-24.3		 benign
GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3 copy number gain See cases [RCV000139658] Chr16:85552976..90096995 [GRCh38]
Chr16:85586582..90163403 [GRCh37]
Chr16:84144083..88690904 [NCBI36]
Chr16:16q24.1-24.3		 pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 copy number gain See cases [RCV000141128] Chr16:80717291..90096662 [GRCh38]
Chr16:80751188..90163070 [GRCh37]
Chr16:79308689..88690571 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 copy number gain See cases [RCV000141700] Chr16:76336203..90088654 [GRCh38]
Chr16:76370100..90155062 [GRCh37]
Chr16:74927601..88682563 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 copy number gain See cases [RCV000142698] Chr16:80067315..90057871 [GRCh38]
Chr16:80101212..90124279 [GRCh37]
Chr16:78658713..88651780 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1 copy number loss See cases [RCV000143624] Chr16:86950106..89335814 [GRCh38]
Chr16:86983712..89402222 [GRCh37]
Chr16:85541213..87929723 [NCBI36]
Chr16:16q24.1-24.3		 pathogenic
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 copy number gain See cases [RCV000240108] Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3		 pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3		 likely pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258442] Chr16:88556191..89557911 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258457] Chr16:88630607..89607742 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258180] Chr16:88230961..89363602 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258201] Chr16:88666177..89472627 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258213] Chr16:88165980..88914268 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258230] Chr16:87183661..89520803 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258283] Chr16:88643461..89611494 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258311] Chr16:88230760..89363742 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258380] Chr16:87340135..89335428 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3		 uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:87687199-89304429)x3 copy number gain See cases [RCV000240062] Chr16:87687199..89304429 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_002461.3(MVD):c.746T>C (p.Phe249Ser) single nucleotide variant MVD-related disorder [RCV004757180]|Porokeratosis 7, multiple types [RCV000239486] Chr16:88655350 [GRCh38]
Chr16:88721758 [GRCh37]
Chr16:16q24.2		 pathogenic|likely pathogenic
NM_002461.3(MVD):c.875A>G (p.Asn292Ser) single nucleotide variant Porokeratosis 7, multiple types [RCV000239520] Chr16:88655221 [GRCh38]
Chr16:88721629 [GRCh37]
Chr16:16q24.2		 pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88601532-89713753)x3 copy number gain See cases [RCV000240352] Chr16:88601532..89713753 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_002461.3(MVD):c.61A>C (p.Ile21Leu) single nucleotide variant not specified [RCV004308962] Chr16:88663020 [GRCh38]
Chr16:88729428 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:87219866-89561087)x1 copy number loss not provided [RCV000509325] Chr16:87219866..89561087 [GRCh37]
Chr16:16q24.2-24.3		 not provided
GRCh37/hg19 16q24.2-24.3(chr16:88104077-88958038)x3 copy number gain See cases [RCV000510568] Chr16:88104077..88958038 [GRCh37]
Chr16:16q24.2-24.3		 likely benign
GRCh37/hg19 16q24.2-24.3(chr16:88116155-89524926)x1 copy number loss See cases [RCV000511455] Chr16:88116155..89524926 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88445490-89319419)x3 copy number gain See cases [RCV000511531] Chr16:88445490..89319419 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4 copy number gain See cases [RCV000511606] Chr16:84937273..89836905 [GRCh37]
Chr16:16q24.1-24.3		 likely pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_002461.3(MVD):c.676C>T (p.Arg226Trp) single nucleotide variant not specified [RCV004295651] Chr16:88655658 [GRCh38]
Chr16:88722066 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3 copy number gain See cases [RCV000512440] Chr16:85838574..90155062 [GRCh37]
Chr16:16q24.1-24.3		 pathogenic
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 copy number gain See cases [RCV000512468] Chr16:83001540..90155062 [GRCh37]
Chr16:16q23.3-24.3		 likely pathogenic
Single allele deletion not provided [RCV000677910] Chr16:86890893..89398630 [GRCh37]
Chr16:16q24.1-24.3		 pathogenic
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 copy number gain not provided [RCV000683845] Chr16:79400436..90155062 [GRCh37]
Chr16:16q23.2-24.3		 pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3		 pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88317240-89079407)x3 copy number gain not provided [RCV000709990] Chr16:88317240..89079407 [GRCh37]
Chr16:16q24.2-24.3		 not provided
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q24.3(chr16:88713533-88799238)x1 copy number loss not provided [RCV000751821] Chr16:88713533..88799238 [GRCh37]
Chr16:16q24.3		 benign
NM_002461.3(MVD):c.231G>A (p.Pro77=) single nucleotide variant not provided [RCV000972909] Chr16:88657940 [GRCh38]
Chr16:88724348 [GRCh37]
Chr16:16q24.2		 benign
NM_002461.3(MVD):c.1104A>G (p.Lys368=) single nucleotide variant not provided [RCV000973105] Chr16:88653318 [GRCh38]
Chr16:88719726 [GRCh37]
Chr16:16q24.2		 benign|likely benign
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) copy number gain not provided [RCV000767619] Chr16:82761333..90055381 [GRCh37]
Chr16:16q23.3-24.3		 pathogenic
NM_002461.3(MVD):c.1001C>T (p.Ser334Leu) single nucleotide variant not specified [RCV004315000] Chr16:88654704 [GRCh38]
Chr16:88721112 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.128T>C (p.Leu43Pro) single nucleotide variant Porokeratosis 7, multiple types [RCV000791135] Chr16:88658663 [GRCh38]
Chr16:88725071 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88697092-88791148)x1 copy number loss not provided [RCV000846887] Chr16:88697092..88791148 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NC_000016.9:g.(?_88709737)_(88718353_?)dup duplication Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV000801355] Chr16:88643329..88651945 [GRCh38]
Chr16:88709737..88718353 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:87848902-88809407)x3 copy number gain not provided [RCV000849210] Chr16:87848902..88809407 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88453448-89569215)x1 copy number loss not provided [RCV000847422] Chr16:88453448..89569215 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88697181-88809407)x1 copy number loss not provided [RCV002473721] Chr16:88697181..88809407 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3		 not provided
GRCh37/hg19 16q24.2-24.3(chr16:88222732-90155062)x3 copy number gain not provided [RCV001258663] Chr16:88222732..90155062 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_002461.3(MVD):c.464del (p.Gly155fs) deletion Porokeratosis 7, multiple types [RCV001332136] Chr16:88656244 [GRCh38]
Chr16:88722652 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_002461.3(MVD):c.650C>G (p.Ala217Gly) single nucleotide variant not provided [RCV001356253] Chr16:88655684 [GRCh38]
Chr16:88722092 [GRCh37]
Chr16:16q24.2		 likely benign
NM_002461.3(MVD):c.1085C>T (p.Pro362Leu) single nucleotide variant not provided [RCV001358362] Chr16:88653337 [GRCh38]
Chr16:88719745 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.1055C>G (p.Ala352Gly) single nucleotide variant not provided [RCV001358022] Chr16:88653367 [GRCh38]
Chr16:88719775 [GRCh37]
Chr16:16q24.2		 uncertain significance
NC_000016.9:g.(?_88709737)_(89220635_?)del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001388209] Chr16:88709737..89220635 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_002461.3(MVD):c.1136C>A (p.Pro379His) single nucleotide variant Nonsyndromic hearing impairment [RCV001543101] Chr16:88652592 [GRCh38]
Chr16:88719000 [GRCh37]
Chr16:16q24.2		 uncertain significance
NC_000016.10:g.88651945C>T single nucleotide variant Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001518209]|not provided [RCV004710284] Chr16:88651945 [GRCh38]
Chr16:88718353 [GRCh37]
Chr16:16q24.2		 benign
NC_000016.9:g.(?_87636753)_(90109753_?)dup duplication Fanconi anemia [RCV004579589]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003119313]|Primary ciliary dyskinesia 33 [RCV003109228] Chr16:87636753..90109753 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_002461.3(MVD):c.770T>C (p.Met257Thr) single nucleotide variant not specified [RCV004308310] Chr16:88655326 [GRCh38]
Chr16:88721734 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.141+1del deletion Porokeratosis 7, multiple types [RCV001733589] Chr16:88658649 [GRCh38]
Chr16:88725057 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_002461.3(MVD):c.1013+1G>T single nucleotide variant Porokeratosis 7, multiple types [RCV001784685] Chr16:88654691 [GRCh38]
Chr16:88721099 [GRCh37]
Chr16:16q24.2		 pathogenic
NM_002461.3(MVD):c.359C>T (p.Thr120Met) single nucleotide variant not provided [RCV001768596]|not specified [RCV004641680] Chr16:88657480 [GRCh38]
Chr16:88723888 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3 copy number gain not provided [RCV001795551] Chr16:80386595..90163348 [GRCh37]
Chr16:16q23.2-24.3		 pathogenic
NM_002461.3(MVD):c.232C>A (p.Arg78=) single nucleotide variant MVD-related disorder [RCV003976171]|Porokeratosis 7, multiple types [RCV001775530]|not provided [RCV004710347] Chr16:88657939 [GRCh38]
Chr16:88724347 [GRCh37]
Chr16:16q24.2		 benign
NC_000016.9:g.(?_88713499)_(88718353_?)del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001950146] Chr16:88713499..88718353 [GRCh37]
Chr16:16q24.3		 pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88000389-90155062)x3 copy number gain not provided [RCV001829158] Chr16:88000389..90155062 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_002461.3(MVD):c.811_815del (p.Phe271fs) deletion Linear porokeratosis [RCV001849673] Chr16:88655281..88655285 [GRCh38]
Chr16:88721689..88721693 [GRCh37]
Chr16:16q24.2		 likely pathogenic
NM_002461.3(MVD):c.70+5G>A single nucleotide variant Linear porokeratosis [RCV001849815]|MVD-related disorder [RCV003923337]|Porokeratosis 7, multiple types [RCV004017873]|not provided [RCV002291775] Chr16:88663006 [GRCh38]
Chr16:88729414 [GRCh37]
Chr16:16q24.2		 pathogenic|likely pathogenic|likely benign|uncertain significance
NM_002461.3(MVD):c.1013+5G>T single nucleotide variant Porokeratosis 7, multiple types [RCV001839153] Chr16:88654687 [GRCh38]
Chr16:88721095 [GRCh37]
Chr16:16q24.2		 uncertain significance
NC_000016.9:g.(?_88709761)_(89623501_?)dup duplication Hereditary spastic paraplegia 7 [RCV002020725] Chr16:88709761..89623501 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_88717354)_(88718353_?)del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001956331] Chr16:88717354..88718353 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_87636753)_(89723996_?)dup duplication Mucopolysaccharidosis, MPS-IV-A [RCV001939908] Chr16:87636753..89723996 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NM_002461.3(MVD):c.352T>C (p.Phe118Leu) single nucleotide variant not provided [RCV003109915] Chr16:88657487 [GRCh38]
Chr16:88723895 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.874A>C (p.Asn292His) single nucleotide variant not specified [RCV004323070] Chr16:88655222 [GRCh38]
Chr16:88721630 [GRCh37]
Chr16:16q24.2		 uncertain significance
NC_000016.9:g.88365786_89584412del1218627 deletion KBG syndrome [RCV002275248] Chr16:88365786..89584412 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3 copy number gain Syndromic anorectal malformation [RCV002286607] Chr16:71641395..90161959 [GRCh37]
Chr16:16q22.2-24.3		 likely pathogenic
NM_002461.3(MVD):c.592C>T (p.Leu198Phe) single nucleotide variant not specified [RCV004325420] Chr16:88656116 [GRCh38]
Chr16:88722524 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.959C>T (p.Ala320Val) single nucleotide variant not specified [RCV004315565] Chr16:88654746 [GRCh38]
Chr16:88721154 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.293A>C (p.Asp98Ala) single nucleotide variant not specified [RCV004111555] Chr16:88657546 [GRCh38]
Chr16:88723954 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.82G>A (p.Asp28Asn) single nucleotide variant not specified [RCV004183332] Chr16:88658709 [GRCh38]
Chr16:88725117 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.688G>A (p.Glu230Lys) single nucleotide variant not specified [RCV004198197] Chr16:88655408 [GRCh38]
Chr16:88721816 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.1187C>G (p.Pro396Arg) single nucleotide variant not specified [RCV004137016] Chr16:88652541 [GRCh38]
Chr16:88718949 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.550C>T (p.Arg184Trp) single nucleotide variant not specified [RCV004115257] Chr16:88656158 [GRCh38]
Chr16:88722566 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.304C>A (p.Leu102Met) single nucleotide variant not specified [RCV004120531] Chr16:88657535 [GRCh38]
Chr16:88723943 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.677G>T (p.Arg226Leu) single nucleotide variant MVD-related disorder [RCV003946415]|not specified [RCV004238163] Chr16:88655657 [GRCh38]
Chr16:88722065 [GRCh37]
Chr16:16q24.2		 likely benign|uncertain significance
NM_002461.3(MVD):c.251G>A (p.Arg84Gln) single nucleotide variant not specified [RCV004117241] Chr16:88657920 [GRCh38]
Chr16:88724328 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.26C>T (p.Ala9Val) single nucleotide variant not provided [RCV003420465]|not specified [RCV004168562] Chr16:88663055 [GRCh38]
Chr16:88729463 [GRCh37]
Chr16:16q24.2		 likely benign
NM_002461.3(MVD):c.105C>G (p.Ile35Met) single nucleotide variant not specified [RCV004211778] Chr16:88658686 [GRCh38]
Chr16:88725094 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.694G>C (p.Val232Leu) single nucleotide variant not specified [RCV004112393] Chr16:88655402 [GRCh38]
Chr16:88721810 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.386C>T (p.Ala129Val) single nucleotide variant not specified [RCV004074280] Chr16:88657453 [GRCh38]
Chr16:88723861 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.224G>T (p.Gly75Val) single nucleotide variant not specified [RCV004159369] Chr16:88657947 [GRCh38]
Chr16:88724355 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.886G>A (p.Gly296Arg) single nucleotide variant not specified [RCV004603422] Chr16:88655210 [GRCh38]
Chr16:88721618 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.209G>A (p.Arg70Gln) single nucleotide variant not specified [RCV004242023] Chr16:88657962 [GRCh38]
Chr16:88724370 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.694G>A (p.Val232Met) single nucleotide variant not specified [RCV004253853] Chr16:88655402 [GRCh38]
Chr16:88721810 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.1060C>G (p.Leu354Val) single nucleotide variant not specified [RCV004249713] Chr16:88653362 [GRCh38]
Chr16:88719770 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.666C>A (p.Ser222Arg) single nucleotide variant not specified [RCV004266641] Chr16:88655668 [GRCh38]
Chr16:88722076 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.1070C>T (p.Ala357Val) single nucleotide variant not provided [RCV003222884] Chr16:88653352 [GRCh38]
Chr16:88719760 [GRCh37]
Chr16:16q24.2		 likely benign
NM_002461.3(MVD):c.1012A>G (p.Thr338Ala) single nucleotide variant not specified [RCV004353669] Chr16:88654693 [GRCh38]
Chr16:88721101 [GRCh37]
Chr16:16q24.2		 likely benign
NM_002461.3(MVD):c.163G>A (p.Val55Ile) single nucleotide variant not specified [RCV004336270] Chr16:88658008 [GRCh38]
Chr16:88724416 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.79C>A (p.Arg27Ser) single nucleotide variant not specified [RCV004354344] Chr16:88658712 [GRCh38]
Chr16:88725120 [GRCh37]
Chr16:16q24.2		 uncertain significance
Single allele deletion KBG syndrome [RCV003388954] Chr16:88197484..89331695 [GRCh38]
Chr16:16q24.2-24.3		 pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88067200-89460290)x1 copy number loss not provided [RCV003483304] Chr16:88067200..89460290 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88647290-88859285)x1 copy number loss not provided [RCV003483306] Chr16:88647290..88859285 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
Single allele deletion KBG syndrome [RCV003388953] Chr16:87169884..89487487 [GRCh38]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion KBG syndrome [RCV003388955] Chr16:88621654..89376245 [GRCh38]
Chr16:16q24.2-24.3		 pathogenic
NM_002461.3(MVD):c.17C>A (p.Pro6Gln) single nucleotide variant not specified [RCV004438373] Chr16:88663064 [GRCh38]
Chr16:88729472 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.290G>A (p.Arg97Gln) single nucleotide variant not specified [RCV004438387] Chr16:88657549 [GRCh38]
Chr16:88723957 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.334G>A (p.Val112Met) single nucleotide variant not specified [RCV004438403] Chr16:88657505 [GRCh38]
Chr16:88723913 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.412C>G (p.Leu138Val) single nucleotide variant not specified [RCV004438412] Chr16:88656296 [GRCh38]
Chr16:88722704 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.514A>T (p.Met172Leu) single nucleotide variant not specified [RCV004438422] Chr16:88656194 [GRCh38]
Chr16:88722602 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.565G>A (p.Glu189Lys) single nucleotide variant not specified [RCV004438436] Chr16:88656143 [GRCh38]
Chr16:88722551 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.481C>T (p.Arg161Trp) single nucleotide variant not specified [RCV004438418] Chr16:88656227 [GRCh38]
Chr16:88722635 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.521A>G (p.Glu174Gly) single nucleotide variant not specified [RCV004438426] Chr16:88656187 [GRCh38]
Chr16:88722595 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88153961-89104917)x1 copy number loss not specified [RCV003987173] Chr16:88153961..89104917 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88445361-88818583)x3 copy number gain not specified [RCV003987174] Chr16:88445361..88818583 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_002461.3(MVD):c.314G>T (p.Ser105Ile) single nucleotide variant not specified [RCV004438397] Chr16:88657525 [GRCh38]
Chr16:88723933 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.528C>T (p.Ala176=) single nucleotide variant MVD-related disorder [RCV003914702]|not provided [RCV004546827] Chr16:88656180 [GRCh38]
Chr16:88722588 [GRCh37]
Chr16:16q24.2		 benign|likely benign
NM_002461.3(MVD):c.529G>A (p.Asp177Asn) single nucleotide variant not specified [RCV004438429] Chr16:88656179 [GRCh38]
Chr16:88722587 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.460C>T (p.Arg154Trp) single nucleotide variant MVD-related disorder [RCV003932012] Chr16:88656248 [GRCh38]
Chr16:88722656 [GRCh37]
Chr16:16q24.2		 benign
NM_002461.3(MVD):c.-8G>A single nucleotide variant MVD-related disorder [RCV003901485] Chr16:88663088 [GRCh38]
Chr16:88729496 [GRCh37]
Chr16:16q24.2		 likely benign
NM_002461.3(MVD):c.1002G>A (p.Ser334=) single nucleotide variant MVD-related disorder [RCV003904029] Chr16:88654703 [GRCh38]
Chr16:88721111 [GRCh37]
Chr16:16q24.2		 likely benign
GRCh37/hg19 16q24.2-24.3(chr16:87866576-89424113)x1 copy number loss not provided [RCV003885482] Chr16:87866576..89424113 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
NM_002461.3(MVD):c.1014-8T>G single nucleotide variant MVD-related disorder [RCV003976343] Chr16:88653416 [GRCh38]
Chr16:88719824 [GRCh37]
Chr16:16q24.2		 benign
NM_002461.3(MVD):c.637G>A (p.Val213Met) single nucleotide variant not specified [RCV004438446] Chr16:88655697 [GRCh38]
Chr16:88722105 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.604-9C>T single nucleotide variant MVD-related disorder [RCV003949580] Chr16:88655739 [GRCh38]
Chr16:88722147 [GRCh37]
Chr16:16q24.2		 likely benign
GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3 copy number gain not provided [RCV004577473] Chr16:82865402..90163542 [GRCh37]
Chr16:16q23.3-24.3		 pathogenic
NM_002461.3(MVD):c.170G>C (p.Ser57Thr) single nucleotide variant not provided [RCV004585434] Chr16:88658001 [GRCh38]
Chr16:88724409 [GRCh37]
Chr16:16q24.2		 uncertain significance
NC_000016.9:g.(?_88717344)_(90106937_?)dup duplication KBG syndrome [RCV004581568] Chr16:88717344..90106937 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_87636753)_(88808850_?)del deletion not provided [RCV004582843] Chr16:87636753..88808850 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NC_000016.9:g.(?_87921735)_(89484776_?)del deletion KBG syndrome [RCV004581567] Chr16:87921735..89484776 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
NM_002461.3(MVD):c.442C>T (p.Leu148Phe) single nucleotide variant not specified [RCV004645623] Chr16:88656266 [GRCh38]
Chr16:88722674 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.902C>T (p.Ala301Val) single nucleotide variant not specified [RCV004647020] Chr16:88654803 [GRCh38]
Chr16:88721211 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.160G>A (p.Ala54Thr) single nucleotide variant not specified [RCV004647021] Chr16:88658011 [GRCh38]
Chr16:88724419 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.974C>T (p.Ala325Val) single nucleotide variant not specified [RCV004647023] Chr16:88654731 [GRCh38]
Chr16:88721139 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.94G>T (p.Val32Phe) single nucleotide variant not specified [RCV004647024] Chr16:88658697 [GRCh38]
Chr16:88725105 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.786G>C (p.Gln262His) single nucleotide variant not specified [RCV004647022] Chr16:88655310 [GRCh38]
Chr16:88721718 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.1196C>G (p.Ala399Gly) single nucleotide variant not specified [RCV004645625] Chr16:88652532 [GRCh38]
Chr16:88718940 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_002461.3(MVD):c.71-2A>C single nucleotide variant MVD-related disorder [RCV004757677] Chr16:88658722 [GRCh38]
Chr16:88725130 [GRCh37]
Chr16:16q24.2		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5928
Count of miRNA genes:1078
Interacting mature miRNAs:1387
Transcripts:ENST00000301012, ENST00000561895, ENST00000562651, ENST00000562741, ENST00000562981, ENST00000563170, ENST00000563463, ENST00000563785, ENST00000565149, ENST00000565610, ENST00000565720, ENST00000565842, ENST00000566636, ENST00000567064, ENST00000568133, ENST00000568709, ENST00000569177
Prediction methods:Microtar, 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
407031472GWAS680448_Hhair colour measurement QTL GWAS680448 (human)0.0000001hair colour measurementcoat/hair color measurement (CMO:0001808)168865513088655131Human
406926166GWAS575142_Hbody height QTL GWAS575142 (human)5e-14body height (VT:0001253)body height (CMO:0000106)168866111188661112Human

Markers in Region
G62102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371688,718,833 - 88,718,947UniSTSGRCh37
Build 361687,246,334 - 87,246,448RGDNCBI36
Celera1673,788,505 - 73,788,619RGD
Cytogenetic Map16q24UniSTS
Cytogenetic Map16q24.3UniSTS
HuRef1674,412,864 - 74,412,978UniSTS
MVD_8513  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371688,718,315 - 88,718,999UniSTSGRCh37
Build 361687,245,816 - 87,246,500RGDNCBI36
Celera1673,787,987 - 73,788,671RGD
HuRef1674,412,346 - 74,413,030UniSTS
STS-U49260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371688,718,751 - 88,718,940UniSTSGRCh37
Build 361687,246,252 - 87,246,441RGDNCBI36
Celera1673,788,423 - 73,788,612RGD
Cytogenetic Map16q24UniSTS
Cytogenetic Map16q24.3UniSTS
HuRef1674,412,782 - 74,412,971UniSTS
GeneMap99-GB4 RH Map16488.47UniSTS
NCBI RH Map16670.3UniSTS
SHGC-67307  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map4q13.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map5q22.1UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p36.21UniSTS
TNG Radiation Hybrid Map41213.0UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC116552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY203927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI752043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY026498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U49260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000301012   ⟹   ENSP00000301012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,651,940 - 88,663,091 (-)Ensembl
Ensembl Acc Id: ENST00000561895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,652,510 - 88,654,985 (-)Ensembl
Ensembl Acc Id: ENST00000562651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,657,436 - 88,660,872 (-)Ensembl
Ensembl Acc Id: ENST00000562741
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,662,102 - 88,663,161 (-)Ensembl
Ensembl Acc Id: ENST00000562981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,652,354 - 88,653,584 (-)Ensembl
Ensembl Acc Id: ENST00000563170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,656,121 - 88,663,065 (-)Ensembl
Ensembl Acc Id: ENST00000563463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,658,973 - 88,663,079 (-)Ensembl
Ensembl Acc Id: ENST00000563785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,655,834 - 88,663,094 (-)Ensembl
Ensembl Acc Id: ENST00000565149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,651,935 - 88,657,266 (-)Ensembl
Ensembl Acc Id: ENST00000565610   ⟹   ENSP00000456465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,657,944 - 88,663,148 (-)Ensembl
Ensembl Acc Id: ENST00000565720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,656,261 - 88,657,507 (-)Ensembl
Ensembl Acc Id: ENST00000565842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,662,115 - 88,663,046 (-)Ensembl
Ensembl Acc Id: ENST00000566636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,656,170 - 88,658,783 (-)Ensembl
Ensembl Acc Id: ENST00000567064   ⟹   ENSP00000458049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,655,657 - 88,663,091 (-)Ensembl
Ensembl Acc Id: ENST00000568133   ⟹   ENSP00000455602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,655,663 - 88,663,082 (-)Ensembl
Ensembl Acc Id: ENST00000568709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,656,105 - 88,663,029 (-)Ensembl
Ensembl Acc Id: ENST00000569177   ⟹   ENSP00000455131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1688,655,385 - 88,663,137 (-)Ensembl
RefSeq Acc Id: NM_002461   ⟹   NP_002452
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381688,651,940 - 88,663,091 (-)NCBI
GRCh371688,718,343 - 88,729,495 (-)NCBI
Build 361687,245,849 - 87,256,996 (-)NCBI Archive
HuRef1674,412,379 - 74,423,531 (-)ENTREZGENE
CHM1_11690,129,698 - 90,140,909 (-)NCBI
T2T-CHM13v2.01694,719,870 - 94,731,025 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523086   ⟹   XP_011521388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381688,651,940 - 88,663,091 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523087   ⟹   XP_011521389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381688,651,940 - 88,663,091 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523088   ⟹   XP_011521390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381688,651,940 - 88,663,091 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523089   ⟹   XP_011521391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381688,651,940 - 88,663,091 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054380388   ⟹   XP_054236363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01694,719,870 - 94,731,025 (-)NCBI
RefSeq Acc Id: XM_054380389   ⟹   XP_054236364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01694,719,870 - 94,731,025 (-)NCBI
RefSeq Acc Id: XM_054380390   ⟹   XP_054236365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01694,719,870 - 94,731,025 (-)NCBI
RefSeq Acc Id: XM_054380391   ⟹   XP_054236366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01694,719,870 - 94,731,025 (-)NCBI
RefSeq Acc Id: NP_002452   ⟸   NM_002461
- UniProtKB: Q53Y65 (UniProtKB/Swiss-Prot),   P53602 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011521388   ⟸   XM_011523086
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011521390   ⟸   XM_011523088
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011521389   ⟸   XM_011523087
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011521391   ⟸   XM_011523089
- Peptide Label: isoform X4
- Sequence:
Ensembl Acc Id: ENSP00000456465   ⟸   ENST00000565610
Ensembl Acc Id: ENSP00000301012   ⟸   ENST00000301012
Ensembl Acc Id: ENSP00000458049   ⟸   ENST00000567064
Ensembl Acc Id: ENSP00000455602   ⟸   ENST00000568133
Ensembl Acc Id: ENSP00000455131   ⟸   ENST00000569177
RefSeq Acc Id: XP_054236363   ⟸   XM_054380388
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054236365   ⟸   XM_054380390
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054236364   ⟸   XM_054380389
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054236366   ⟸   XM_054380391
- Peptide Label: isoform X4
Protein Domains
Diphosphomevalonate decarboxylase-like N-terminal   Mvd1 C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P53602-F1-model_v2 AlphaFold P53602 1-400 view protein structure

Promoters
RGD ID:6793295
Promoter ID:HG_KWN:24462
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC002FLF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361687,250,226 - 87,251,527 (-)MPROMDB
RGD ID:6793067
Promoter ID:HG_KWN:24463
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000378400,   OTTHUMT00000269547,   UC002FLH.1,   UC002FLI.2,   UC010CHY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361687,256,141 - 87,257,297 (-)MPROMDB
RGD ID:7233111
Promoter ID:EPDNEW_H22302
Type:initiation region
Name:MVD_1
Description:mevalonate diphosphate decarboxylase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381688,663,091 - 88,663,151EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7529 AgrOrtholog
COSMIC MVD COSMIC
Ensembl Genes ENSG00000167508 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000301012 ENTREZGENE
  ENST00000301012.8 UniProtKB/Swiss-Prot
  ENST00000565610.5 UniProtKB/TrEMBL
  ENST00000567064.5 UniProtKB/TrEMBL
  ENST00000568133.5 UniProtKB/TrEMBL
  ENST00000569177.5 UniProtKB/TrEMBL
Gene3D-CATH 3.30.230.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.70.890 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000167508 GTEx
HGNC ID HGNC:7529 ENTREZGENE
Human Proteome Map MVD Human Proteome Map
InterPro GHMP_kinase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mev_decarb UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mev_diP_decarb UniProtKB/Swiss-Prot
  MVD-like_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mvd1_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S5_D2-typ_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S5_D2-typ_fold_subgr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4597 UniProtKB/Swiss-Prot
NCBI Gene 4597 ENTREZGENE
OMIM 603236 OMIM
PANTHER DIPHOSPHOMEVALONATE DECARBOXYLASE UniProtKB/Swiss-Prot
  DIPHOSPHOMEVALONATE DECARBOXYLASE UniProtKB/Swiss-Prot
  DIPHOSPHOMEVALONATE DECARBOXYLASE UniProtKB/TrEMBL
  DIPHOSPHOMEVALONATE DECARBOXYLASE UniProtKB/TrEMBL
Pfam MDD_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MVD-like_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31330 PharmGKB
PIRSF Mev_P_decrbx UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS F138DOMAIN UniProtKB/TrEMBL
Superfamily-SCOP SSF54211 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55060 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt H3BP35_HUMAN UniProtKB/TrEMBL
  H3BQ47_HUMAN UniProtKB/TrEMBL
  H3BRZ1_HUMAN UniProtKB/TrEMBL
  H3BVC4_HUMAN UniProtKB/TrEMBL
  MVD1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q53Y65 ENTREZGENE
UniProt Secondary Q53Y65 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 MVD  mevalonate diphosphate decarboxylase  MVD  mevalonate (diphospho) decarboxylase  Symbol and/or name change 5135510 APPROVED