MKI67 (marker of proliferation Ki-67) - Rat Genome Database

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Gene: MKI67 (marker of proliferation Ki-67) Homo sapiens
Analyze
Symbol: MKI67
Name: marker of proliferation Ki-67
RGD ID: 1313525
HGNC Page HGNC:7107
Description: Enables RNA binding activity. Involved in regulation of chromosome segregation and regulation of mitotic nuclear division. Located in condensed chromosome; nuclear body; and nucleolus. Implicated in several diseases, including Crohn's disease; colorectal cancer; endocrine gland cancer (multiple); graft-versus-host disease; and human immunodeficiency virus infectious disease. Biomarker of several diseases, including Barrett's esophagus; autoimmune disease of musculoskeletal system (multiple); endocrine gland cancer (multiple); gastrointestinal system cancer (multiple); and lung cancer (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: antigen identified by monoclonal antibody Ki-67; antigen KI-67; antigen Ki67; KIA; MIB-; MIB-1; Molecular Immunology Borstel antibody 1; PPP1R105; proliferation marker protein Ki-67; proliferation-related Ki-67 antigen
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: MKI67P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810128,096,659 - 128,126,423 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10128,096,659 - 128,126,423 (-)EnsemblGRCh38hg38GRCh38
GRCh3710129,894,923 - 129,924,687 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610129,784,913 - 129,814,645 (-)NCBINCBI36Build 36hg18NCBI36
Build 3410129,784,912 - 129,814,458NCBI
Celera10123,566,399 - 123,595,953 (-)NCBICelera
Cytogenetic Map10q26.2NCBI
HuRef10123,469,633 - 123,499,187 (-)NCBIHuRef
CHM1_110130,177,330 - 130,206,878 (-)NCBICHM1_1
T2T-CHM13v2.010128,995,212 - 129,024,955 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-taxifolin  (ISO)
(-)-cotinine  (ISO)
(20S)-ginsenoside Rg3  (EXP)
(R,R,R)-alpha-tocopherol  (ISO)
(S)-nicotine  (ISO)
(S)-ropivacaine  (EXP)
(Z)-3-butylidenephthalide  (EXP,ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dichloropropan-2-ol  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP,ISO)
1-methyltryptophan  (EXP)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
1H-pyrazole  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,2':5',2''-terthiophene  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-D  (ISO)
2-acetamidofluorene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-nitropropane  (ISO)
2-palmitoylglycerol  (EXP)
3,3',5-triiodo-L-thyronine  (ISO)
3-methylcholanthrene  (ISO)
3-nitropropanoic acid  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (EXP)
4-Hydroxybenzophenone  (ISO)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-nitroquinoline N-oxide  (ISO)
5'-S-methyl-5'-thioadenosine  (ISO)
5-aza-2'-deoxycytidine  (ISO)
5-azacytidine  (EXP)
5-fluorouracil  (EXP,ISO)
6-bromoindirubin-3'-oxime  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
ABT-737  (EXP)
acetamide  (ISO)
acetamiprid  (ISO)
acetylsalicylic acid  (ISO)
acrolein  (EXP)
acrylamide  (EXP,ISO)
adenosine  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucosamine  (ISO)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-hexylcinnamaldehyde  (ISO)
alpha-pinene  (EXP)
aminoguanidine  (EXP)
amoxicillin  (ISO)
anastrozole  (EXP)
aniline  (ISO)
antimycin A  (EXP)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenic trichloride  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP,ISO)
artesunate  (ISO)
atrazine  (EXP)
auramine O  (ISO)
azathioprine  (EXP)
azithromycin  (ISO)
benzene  (EXP)
benzidine  (ISO)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (EXP,ISO)
Benzo[ghi]perylene  (EXP)
benzoates  (EXP)
Berberrubine  (ISO)
beta-carotene  (ISO)
beta-D-glucosamine  (ISO)
betulin  (EXP)
bicalutamide  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bortezomib  (EXP,ISO)
brexpiprazole  (EXP)
bromoethene  (ISO)
bucladesine  (ISO)
butanal  (EXP)
butylated hydroxyanisole  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP,ISO)
calcitriol  (EXP)
camostat  (ISO)
cannabidiol  (ISO)
capsaicin  (ISO)
Carbadox  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carboplatin  (ISO)
carteolol  (EXP)
catechol  (ISO)
cefaloridine  (ISO)
celecoxib  (EXP,ISO)
chlorohydrocarbon  (EXP)
chloroquine  (EXP,ISO)
chlorpromazine  (EXP)
cholesterol  (EXP)
choline  (ISO)
chrysene  (ISO)
ciglitazone  (EXP)
cisplatin  (EXP,ISO)
clobetasol  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
cordycepin  (EXP,ISO)
coumarin  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (ISO)
Cuprizon  (ISO)
curcumin  (EXP,ISO)
cyanocob(III)alamin  (ISO)
cyclohexanols  (ISO)
Cyclopamine  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
cypermethrin  (EXP,ISO)
cyproconazole  (ISO)
D-glucose  (EXP,ISO)
decabromodiphenyl ether  (EXP)
deguelin  (EXP)
deoxynivalenol  (EXP,ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
Diallyl sulfide  (EXP)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP,ISO)
diazinon  (ISO)
dibenz[a,h]anthracene  (ISO)
dibenzo[a,l]pyrene  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
Dictamnine  (EXP)
dieldrin  (ISO)
diethyl maleate  (ISO)
diethylstilbestrol  (ISO)
difenoconazole  (ISO)
diisononyl phthalate  (ISO)
Dimefox  (EXP)
dimethylarsinic acid  (ISO)
diosmin  (ISO)
dioxygen  (ISO)
diquat  (ISO)
disodium selenite  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
Echimidine  (ISO)
embelin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
entinostat  (ISO)
enzalutamide  (EXP)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
erastin  (EXP)
ethanol  (EXP,ISO)
Ethylenethiourea  (ISO)
exemestane  (EXP)
fenbendazole  (ISO)
fenofibrate  (ISO)
fenpyroximate  (EXP)
fenthion  (ISO)
flavokawain B  (EXP)
flutamide  (ISO)
fluvastatin  (ISO)
folic acid  (EXP,ISO)
formononetin  (EXP)
FR900359  (EXP)
fructose  (ISO)
fulvestrant  (EXP,ISO)
furan  (ISO)
gefitinib  (EXP)
gemcitabine  (EXP,ISO)
genistein  (ISO)
geraniol  (EXP,ISO)
glucose  (EXP,ISO)
glycine betaine  (ISO)
glyphosate  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
harmaline  (ISO)
Heliotrine  (ISO)
hexadecanoic acid  (EXP)
Hexamethonium  (ISO)
hydrazine  (ISO)
hydroquinone O-beta-D-glucopyranoside  (EXP)
icariside II  (EXP)
Indeno[1,2,3-cd]pyrene  (EXP)
indometacin  (ISO)
iodoacetic acid  (ISO)
irinotecan  (EXP)
isoflavones  (ISO)
isoliquiritigenin  (ISO)
isopimaric acid  (ISO)
ivermectin  (EXP)
ketamine  (EXP)
ketoconazole  (ISO)
L-ascorbic acid  (EXP,ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP,ISO)
leflunomide  (EXP)
letrozole  (EXP)
Leucomalachite green  (ISO)
levonorgestrel  (EXP)
lignan  (EXP)
linezolid  (ISO)
lithium atom  (ISO)
lithium chloride  (ISO)
lithium hydride  (ISO)
lucanthone  (EXP)
lupeol  (ISO)
LY294002  (EXP)
lycopene  (ISO)
maneb  (ISO)
MeIQx  (EXP)
melatonin  (EXP,ISO)
methamphetamine  (EXP,ISO)
methapyrilene  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methyl salicylate  (ISO)
methyllycaconitine  (ISO)
methylmercury chloride  (EXP)
methylparaben  (EXP)
methylseleninic acid  (EXP)
miconazole  (ISO)
microcystin-LR  (ISO)
mifepristone  (EXP)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
monobenzyl phthalate  (EXP,ISO)
Monobutylphthalate  (EXP)
monocrotaline  (ISO)
monoethyl phthalate  (EXP,ISO)
N,N-bis(2-hydroxypropyl)nitrosamine  (ISO)
N-acetyl-L-cysteine  (EXP)
N-butyl-N-(4-hydroxybutyl)nitrosamine  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-Nitrosodiethanolamine  (ISO)
N-nitrosodiethylamine  (EXP,ISO)
N-nitrosodimethylamine  (ISO)
N-Nitrosomethylethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (EXP)
nickel sulfate  (EXP)
niclosamide  (EXP)
nicotine  (ISO)
nimesulide  (ISO)
nitrofen  (ISO)
nitrosobis(2-oxopropyl)amine  (ISO)
Nitrosoheptamethyleneimine  (ISO)
nonanoic acid  (ISO)
Nonylphenol  (EXP)
NS-398  (EXP)
O-methyleugenol  (ISO)
ochratoxin A  (ISO)
Octicizer  (EXP,ISO)
olaparib  (EXP)
omacetaxine mepesuccinate  (EXP)
oridonin  (EXP)
osimertinib  (EXP)
osthole  (EXP)
oxaliplatin  (ISO)
oxfendazole  (ISO)
ozone  (EXP,ISO)
palbociclib  (EXP)
para-Cresidine  (ISO)
paracetamol  (EXP,ISO)
Paraoxon-methyl  (EXP)
paraquat  (ISO)
parathion  (ISO)
parathion-methyl  (EXP)
PCB138  (ISO)
PD 0325901  (ISO)
pectolinarigenin  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (EXP,ISO)
phenethyl isothiocyanate  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
phenytoin  (ISO)
PhIP  (ISO)
phloretin  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
phthalaldehyde  (ISO)
phytoestrogen  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP,ISO)
promethazine  (ISO)
propanal  (EXP)
propiconazole  (ISO)
propofol  (EXP)
propranolol  (EXP)
Pseudolaric acid B  (ISO)
Ptaquiloside  (ISO)
quartz  (ISO)
quercetin  (EXP,ISO)
raloxifene  (EXP)
remdesivir  (EXP)
resveratrol  (EXP,ISO)
rifampicin  (ISO)
rotenone  (EXP,ISO)
rucaparib  (EXP)
ruthenium atom  (ISO)
SB 431542  (EXP)
scutellarin  (EXP)
Se-methyl-L-selenocysteine  (EXP)
Se-methylselenocysteine  (EXP)
senecionine  (ISO)
Senkirkine  (ISO)
serpentine asbestos  (ISO)
sevoflurane  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (ISO)
silver(0)  (ISO)
simvastatin  (ISO)
sirolimus  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sophoraflavanone B  (ISO)
succimer  (ISO)
sucrose  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP,ISO)
tamoxifen  (EXP,ISO)
tebufenpyrad  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thalidomide  (EXP)
thapsigargin  (EXP)
theobromine  (ISO)
thiacloprid  (ISO)
thioacetamide  (ISO)
thymoquinone  (EXP)
titanium dioxide  (EXP,ISO)
tolbutamide  (ISO)
topotecan  (ISO)
trabectedin  (ISO)
trametinib  (ISO)
tremolite asbestos  (ISO)
triamcinolone acetonide  (EXP)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
trimethyltin  (ISO)
triphenyl phosphate  (ISO)
triphenylstannane  (ISO)
Triptolide  (EXP)
triptonide  (ISO)
troglitazone  (EXP)
trovafloxacin  (ISO)
tungsten  (ISO)
tunicamycin  (EXP)
urethane  (ISO)
valproic acid  (EXP)
vanadium atom  (ISO)
vanadium(0)  (ISO)
vemurafenib  (EXP)
verteporfin  (ISO)
vincristine  (EXP)
vorinostat  (EXP)
wogonin  (EXP)
xanthohumol  (EXP)
Y-27632  (EXP)
zearalenone  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)
zingerone  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromosome  (IBA,IDA,IEA)
chromosome, centromeric region  (ISO)
condensed chromosome  (IDA)
cytoplasm  (ISO)
membrane  (HDA)
nuclear body  (IDA)
nucleolus  (IDA,IEA)
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Whole blueberry powder modulates the growth and metastasis of MDA-MB-231 triple negative breast tumors in nude mice. Adams LS, etal., J Nutr. 2011 Oct;141(10):1805-12. Epub 2011 Aug 31.
2. Immunohistochemical study of osteopontin, Ki-67, and CD34 of psoriasis in Mansoura, Egypt. Amin MM and Azim ZA, Indian J Pathol Microbiol. 2012 Jan-Mar;55(1):56-60.
3. Hippocampal neurovascular and hypothalamic-pituitary-adrenal axis alterations in spontaneously type 2 diabetic GK rats. Beauquis J, etal., Exp Neurol. 2010 Mar;222(1):125-34. Epub 2010 Jan 4.
4. Mechanisms of peripheral neuropathy associated with bortezomib and vincristine in patients with newly diagnosed multiple myeloma: a prospective analysis of data from the HOVON-65/GMMG-HD4 trial. Broyl A, etal., Lancet Oncol. 2010 Nov;11(11):1057-65. Epub 2010 Sep 21.
5. Clinical and pathological differences between human immunodeficiency virus-positive and human immunodeficiency virus-negative patients with plasmablastic lymphoma. Castillo JJ, etal., Leuk Lymphoma. 2010 Nov;51(11):2047-53. Epub 2010 Oct 4.
6. MicroRNA-432 functions as a tumor suppressor gene through targeting E2F3 and AXL in lung adenocarcinoma. Chen L, etal., Oncotarget. 2016 Apr 12;7(15):20041-53. doi: 10.18632/oncotarget.7884.
7. Antitumor effect of malaria parasite infection in a murine Lewis lung cancer model through induction of innate and adaptive immunity. Chen L, etal., PLoS One. 2011;6(9):e24407. Epub 2011 Sep 9.
8. Magnetic enhancement of cell retention, engraftment and functional benefit after intracoronary delivery of cardiac-derived stem cells in a rat model of ischemia/reperfusion. Cheng K, etal., Cell Transplant. 2012 Mar 8.
9. DPEP1 is a direct target of miR-193a-5p and promotes hepatoblastoma progression by PI3K/Akt/mTOR pathway. Cui X, etal., Cell Death Dis. 2019 Sep 20;10(10):701. doi: 10.1038/s41419-019-1943-0.
10. Perfusion MRI for monitoring the effect of sorafenib on experimental prostate carcinoma: a validation study. Cyran CC, etal., AJR Am J Roentgenol. 2012 Feb;198(2):384-91.
11. American ginseng suppresses Western diet-promoted tumorigenesis in model of inflammation-associated colon cancer: role of EGFR. Dougherty U, etal., BMC Complement Altern Med. 2011 Nov 9;11:111.
12. MiR-193a-3p is an Important Tumour Suppressor in Lung Cancer and Directly Targets KRAS. Fan Q, etal., Cell Physiol Biochem. 2017;44(4):1311-1324. doi: 10.1159/000485491. Epub 2017 Nov 29.
13. Utility of Ki67 immunostaining in the grading of pineal parenchymal tumours: a multicentre study. Fevre-Montange M, etal., Neuropathol Appl Neurobiol. 2012 Feb;38(1):87-94. doi: 10.1111/j.1365-2990.2011.01202.x.
14. Lymphopenia in patients with chronic idiopathic neutropenia is associated with decreased number of T-lymphocytes containing T-cell receptor excision circles. Gemetzi C, etal., Eur J Haematol. 2012 Mar;88(3):210-23. doi: 10.1111/j.1600-0609.2011.01722.x. Epub 2011 Nov 24.
15. Evaluation of biocompatibility and anti-glioma efficacy of doxorubicin and irinotecan drug-eluting bead suspensions in alginate. Glage S, etal., Clin Transl Oncol. 2012 Jan;14(1):50-9.
16. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
17. Activation and expansion of CD8(+) T effector cells in patients with chronic graft-versus-host disease. Grogan BM, etal., Biol Blood Marrow Transplant. 2011 Aug;17(8):1121-32. Epub 2011 Mar 24.
18. 1,25-dihydroxyvitamin D3 treatment shrinks uterine leiomyoma tumors in the Eker rat model. Halder SK, etal., Biol Reprod. 2012 Apr 19;86(4):116. Print 2012 Apr.
19. Circular RNA protein tyrosine kinase 2 (circPTK2) promotes colorectal cancer proliferation, migration, invasion and chemoresistance. Jiang Z, etal., Bioengineered. 2022 Jan;13(1):810-823. doi: 10.1080/21655979.2021.2012952.
20. Differential cell cycle and proliferation marker expression in ductal pancreatic adenocarcinoma and pancreatic intraepithelial neoplasia (PanIN). Karamitopoulou E, etal., Pathology. 2010 Apr;42(3):229-34.
21. Oral methylthioadenosine administration attenuates fibrosis and chronic liver disease progression in Mdr2-/- mice. Latasa MU, etal., PLoS One. 2010 Dec 29;5(12):e15690. doi: 10.1371/journal.pone.0015690.
22. Role of inducible nitric oxide synthase pathway on methotrexate-induced intestinal mucositis in rodents. Leitao RF, etal., BMC Gastroenterol. 2011 Aug 16;11:90.
23. Longitudinal analysis of the human T cell response during acute hantavirus infection. Lindgren T, etal., J Virol. 2011 Oct;85(19):10252-60. Epub 2011 Jul 27.
24. Inflammation in common variable immunodeficiency is associated with a distinct CD8(+) response to cytomegalovirus. Marashi SM, etal., J Allergy Clin Immunol. 2011 Jun;127(6):1385-93.e4. Epub 2011 May 4.
25. Changes in the ER, PgR, HER2, p53 and Ki-67 biological markers between primary and recurrent breast cancer: discordance rates and prognosis. Nishimura R, etal., World J Surg Oncol. 2011 Oct 17;9:131.
26. Inhibition of bladder tumour growth by sirolimus in an experimental carcinogenesis model. Parada B, etal., BJU Int. 2010 Mar 29.
27. Hydroxychloroquine drastically reduces immune activation in HIV-infected, antiretroviral therapy-treated immunologic nonresponders. Piconi S, etal., Blood. 2011 Sep 22;118(12):3263-72. Epub 2011 May 16.
28. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
29. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
30. Prognostic value of cell proliferation (Ki-67 antigen) and nuclear DNA content in clinically resectable, distal bile duct carcinoma. Rijken AM, etal., Ann Surg Oncol. 1998 Dec;5(8):699-705.
31. Infliximab therapy inhibits inflammation-induced angiogenesis in the mucosa of patients with Crohn's disease. Rutella S, etal., Am J Gastroenterol. 2011 Apr;106(4):762-70. Epub 2011 Mar 1.
32. Higher levels of cell apoptosis and abnormal E-cadherin expression in the urothelium are associated with inflammation in patients with interstitial cystitis/painful bladder syndrome. Shie JH and Kuo HC, BJU Int. 2011 Jul;108(2 Pt 2):E136-41. doi: 10.1111/j.1464-410X.2010.09911.x. Epub 2010 Dec 16.
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PMID:35831314   PMID:35844135   PMID:35850772   PMID:35906200   PMID:35920918   PMID:35944360   PMID:35947048   PMID:35960013   PMID:35987950   PMID:36049099   PMID:36057605   PMID:36073532  
PMID:36089195   PMID:36094928   PMID:36149140   PMID:36190180   PMID:36199071   PMID:36215168   PMID:36232890   PMID:36239545   PMID:36244648   PMID:36306194   PMID:36334226   PMID:36373674  
PMID:36424410   PMID:36490346   PMID:36507623   PMID:36517590   PMID:36517805   PMID:36526897   PMID:36574265   PMID:36600214   PMID:36649044   PMID:36656212   PMID:36694148   PMID:36695333  
PMID:36779763   PMID:36800779   PMID:36835656   PMID:36912080   PMID:37113134   PMID:37482844   PMID:37643197   PMID:37689310   PMID:37704626   PMID:37713321   PMID:37827155   PMID:38063088  
PMID:38297188   PMID:38374309  


Genomics

Comparative Map Data
MKI67
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810128,096,659 - 128,126,423 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10128,096,659 - 128,126,423 (-)EnsemblGRCh38hg38GRCh38
GRCh3710129,894,923 - 129,924,687 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610129,784,913 - 129,814,645 (-)NCBINCBI36Build 36hg18NCBI36
Build 3410129,784,912 - 129,814,458NCBI
Celera10123,566,399 - 123,595,953 (-)NCBICelera
Cytogenetic Map10q26.2NCBI
HuRef10123,469,633 - 123,499,187 (-)NCBIHuRef
CHM1_110130,177,330 - 130,206,878 (-)NCBICHM1_1
T2T-CHM13v2.010128,995,212 - 129,024,955 (-)NCBIT2T-CHM13v2.0
Mki67
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397135,291,513 - 135,318,286 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7135,291,513 - 135,318,090 (-)EnsemblGRCm39 Ensembl
GRCm387135,689,784 - 135,716,450 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7135,689,784 - 135,716,361 (-)EnsemblGRCm38mm10GRCm38
MGSCv377142,881,471 - 142,908,062 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367135,528,127 - 135,554,760 (-)NCBIMGSCv36mm8
Celera7135,512,892 - 135,539,280 (-)NCBICelera
Cytogenetic Map7F3NCBI
cM Map781.32NCBI
Mki67
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81199,926,150 - 199,952,847 (-)NCBIGRCr8
mRatBN7.21190,496,319 - 190,522,983 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1190,496,319 - 190,522,762 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1198,852,141 - 198,878,981 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01206,011,398 - 206,037,482 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01198,684,856 - 198,710,940 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01207,993,895 - 208,020,454 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1207,993,895 - 208,020,454 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01214,925,922 - 214,952,481 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41195,310,027 - 195,336,224 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11195,460,292 - 195,486,216 (-)NCBI
Celera1188,211,009 - 188,236,363 (-)NCBICelera
Cytogenetic Map1q41NCBI
Mki67
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554775,847,288 - 5,875,970 (-)NCBIChiLan1.0ChiLan1.0
MKI67
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28139,974,907 - 140,004,715 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110139,980,261 - 140,010,069 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v010124,684,336 - 124,714,143 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.110128,933,508 - 128,963,280 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10128,936,037 - 128,962,555 (-)Ensemblpanpan1.1panPan2
MKI67
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12836,920,679 - 36,939,336 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2836,913,023 - 36,939,486 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2836,965,380 - 36,994,575 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02837,541,611 - 37,570,825 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12837,031,991 - 37,050,728 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02837,016,504 - 37,045,697 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02837,271,417 - 37,300,625 (-)NCBIUU_Cfam_GSD_1.0
Mki67
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244072139,973,938 - 9,999,971 (+)NCBIHiC_Itri_2
SpeTri2.0NW_00493648615,561,327 - 15,587,109 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MKI67
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.114137,266,622 - 137,296,312 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214149,170,365 - 149,198,693 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MKI67
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.19120,697,183 - 120,727,039 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl9120,698,834 - 120,726,866 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604882,086,680 - 82,116,196 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mki67
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473718,935,686 - 18,963,907 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MKI67
194 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3 copy number gain See cases [RCV000051218] Chr10:111313099..133620674 [GRCh38]
Chr10:113072857..135434178 [GRCh37]
Chr10:113062847..135284168 [NCBI36]
Chr10:10q25.2-26.3		 pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1 copy number loss See cases [RCV000051150] Chr10:123307835..133620674 [GRCh38]
Chr10:125067351..135434178 [GRCh37]
Chr10:125057341..135284168 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1 copy number loss See cases [RCV000051103] Chr10:120454430..133620674 [GRCh38]
Chr10:122213942..135434178 [GRCh37]
Chr10:122203932..135284168 [NCBI36]
Chr10:10q26.12-26.3		 pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1 copy number loss See cases [RCV000051069] Chr10:122265252..133620674 [GRCh38]
Chr10:124024767..135434178 [GRCh37]
Chr10:124014757..135284168 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:127852284-129780378)x3 copy number gain See cases [RCV000051656] Chr10:127852284..129780378 [GRCh38]
Chr10:129650548..131578642 [GRCh37]
Chr10:129540538..131468632 [NCBI36]
Chr10:10q26.2-26.3		 uncertain significance
GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1 copy number loss See cases [RCV000052612] Chr10:126256585..133613938 [GRCh38]
Chr10:127945154..135427442 [GRCh37]
Chr10:127935144..135277432 [NCBI36]
Chr10:10q26.2-26.3		 pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:127500483-133620674)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052613]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052613]|See cases [RCV000052613] Chr10:127500483..133620674 [GRCh38]
Chr10:129298747..135434178 [GRCh37]
Chr10:129188737..135284168 [NCBI36]
Chr10:10q26.2-26.3		 pathogenic
GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1 copy number loss See cases [RCV000052610] Chr10:122973296..128210291 [GRCh38]
Chr10:124732812..130008555 [GRCh37]
Chr10:124722802..129898545 [NCBI36]
Chr10:10q26.13-26.2		 pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1 copy number loss See cases [RCV000052611] Chr10:123580320..133558988 [GRCh38]
Chr10:125339836..135372492 [GRCh37]
Chr10:125329826..135222482 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3		 pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3		 pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3 copy number gain See cases [RCV000053588] Chr10:106925303..133620815 [GRCh38]
Chr10:108685061..135434319 [GRCh37]
Chr10:108675051..135284309 [NCBI36]
Chr10:10q25.1-26.3		 pathogenic
GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3 copy number gain See cases [RCV000053589] Chr10:117866565..133554210 [GRCh38]
Chr10:119626076..135367714 [GRCh37]
Chr10:119616066..135217704 [NCBI36]
Chr10:10q26.11-26.3		 pathogenic
NM_001145966.1(MKI67):c.7812G>A (p.Arg2604=) single nucleotide variant Malignant melanoma [RCV000068856] Chr10:128102948 [GRCh38]
Chr10:129901212 [GRCh37]
Chr10:129791202 [NCBI36]
Chr10:10q26.2		 not provided
NM_001145966.1(MKI67):c.7811G>A (p.Arg2604Gln) single nucleotide variant Malignant melanoma [RCV000068857] Chr10:128102949 [GRCh38]
Chr10:129901213 [GRCh37]
Chr10:129791203 [NCBI36]
Chr10:10q26.2		 not provided
NM_001145966.1(MKI67):c.4246C>T (p.Pro1416Ser) single nucleotide variant Malignant melanoma [RCV000068858] Chr10:128106514 [GRCh38]
Chr10:129904778 [GRCh37]
Chr10:129794768 [NCBI36]
Chr10:10q26.2		 not provided
NM_001145966.1(MKI67):c.6674C>A (p.Pro2225His) single nucleotide variant Malignant melanoma [RCV000062013] Chr10:128104086 [GRCh38]
Chr10:129902350 [GRCh37]
Chr10:129792340 [NCBI36]
Chr10:10q26.2		 not provided
GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3 copy number gain not provided [RCV000847820] Chr10:114544537..135427143 [GRCh37]
Chr10:10q25.2-26.3		 pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3 copy number gain See cases [RCV000133688] Chr10:108102587..133620674 [GRCh38]
Chr10:109862345..135434178 [GRCh37]
Chr10:109852335..135284168 [NCBI36]
Chr10:10q25.1-26.3		 pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1 copy number loss See cases [RCV000133741] Chr10:125657472..133620674 [GRCh38]
Chr10:127346041..135434178 [GRCh37]
Chr10:127336031..135284168 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:126730896-133620609)x1 copy number loss See cases [RCV000134040] Chr10:126730896..133620609 [GRCh38]
Chr10:128419465..135434113 [GRCh37]
Chr10:128409455..135284103 [NCBI36]
Chr10:10q26.2-26.3		 pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:127640489-132776585)x1 copy number loss See cases [RCV000135728] Chr10:127640489..132776585 [GRCh38]
Chr10:129438753..134590089 [GRCh37]
Chr10:129328743..134440079 [NCBI36]
Chr10:10q26.2-26.3		 pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1 copy number loss See cases [RCV000136028] Chr10:124473108..133620609 [GRCh38]
Chr10:126161677..135434113 [GRCh37]
Chr10:126151667..135284103 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1 copy number loss See cases [RCV000137653] Chr10:124834858..133622588 [GRCh38]
Chr10:126523427..135436092 [GRCh37]
Chr10:126513417..135286082 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:127849717-133622588)x1 copy number loss See cases [RCV000138160] Chr10:127849717..133622588 [GRCh38]
Chr10:129647981..135436092 [GRCh37]
Chr10:129537971..135286082 [NCBI36]
Chr10:10q26.2-26.3		 pathogenic|likely benign
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3		 pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1 copy number loss See cases [RCV000138435] Chr10:122881207..133620609 [GRCh38]
Chr10:124640723..135434113 [GRCh37]
Chr10:124630713..135284103 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1 copy number loss See cases [RCV000139344] Chr10:120970558..133622588 [GRCh38]
Chr10:122730071..135436092 [GRCh37]
Chr10:122720061..135286082 [NCBI36]
Chr10:10q26.12-26.3		 pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:125316124-130269667)x1 copy number loss See cases [RCV000139127] Chr10:125316124..130269667 [GRCh38]
Chr10:127004693..132067931 [GRCh37]
Chr10:126994683..131957921 [NCBI36]
Chr10:10q26.13-26.3		 likely benign
GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1 copy number loss See cases [RCV000139588] Chr10:125021995..133620609 [GRCh38]
Chr10:126710564..135434113 [GRCh37]
Chr10:126700554..135284103 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3 copy number gain See cases [RCV000141337] Chr10:125452905..133785874 [GRCh38]
Chr10:127141474..135523199 [GRCh37]
Chr10:127131464..135373189 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3 copy number gain See cases [RCV000140974] Chr10:127664168..133622588 [GRCh38]
Chr10:129462432..135436092 [GRCh37]
Chr10:129352422..135286082 [NCBI36]
Chr10:10q26.2-26.3		 likely pathogenic
GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3 copy number gain See cases [RCV000142005] Chr10:119707856..133613639 [GRCh38]
Chr10:121467368..135427143 [GRCh37]
Chr10:121457358..135277133 [NCBI36]
Chr10:10q26.11-26.3		 pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:127507503-129782976)x3 copy number gain See cases [RCV000141892] Chr10:127507503..129782976 [GRCh38]
Chr10:129305767..131581240 [GRCh37]
Chr10:129195757..131471230 [NCBI36]
Chr10:10q26.2-26.3		 uncertain significance
GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1 copy number loss See cases [RCV000142441] Chr10:121588992..133620674 [GRCh38]
Chr10:123348506..135434178 [GRCh37]
Chr10:123338496..135284168 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1 copy number loss See cases [RCV000142737] Chr10:121918547..133620674 [GRCh38]
Chr10:123678062..135434178 [GRCh37]
Chr10:123668052..135284168 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1 copy number loss See cases [RCV000143241] Chr10:127435985..133622588 [GRCh38]
Chr10:129234249..135436092 [GRCh37]
Chr10:129124239..135286082 [NCBI36]
Chr10:10q26.2-26.3		 pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1 copy number loss See cases [RCV000143623] Chr10:123986772..133613639 [GRCh38]
Chr10:125746288..135427143 [GRCh37]
Chr10:125736278..135277133 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1 copy number loss See cases [RCV000143544] Chr10:123576393..133613639 [GRCh38]
Chr10:125335909..135427143 [GRCh37]
Chr10:125325899..135277133 [NCBI36]
Chr10:10q26.13-26.3		 pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1 copy number loss See cases [RCV000143615] Chr10:126794646..133613639 [GRCh38]
Chr10:128483215..135427143 [GRCh37]
Chr10:128473205..135277133 [NCBI36]
Chr10:10q26.2-26.3		 pathogenic
NM_002417.5(MKI67):c.7106T>C (p.Val2369Ala) single nucleotide variant Long QT syndrome [RCV000190194] Chr10:128104734 [GRCh38]
Chr10:129902998 [GRCh37]
Chr10:10q26.2		 likely benign
GRCh37/hg19 10q26.13-26.3(chr10:123731209-135353867)x1 copy number loss See cases [RCV000203440] Chr10:123731209..135353867 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic|likely pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3		 pathogenic
NM_002417.5(MKI67):c.500C>A (p.Thr167Asn) single nucleotide variant Inborn genetic diseases [RCV003245540] Chr10:128115908 [GRCh38]
Chr10:129914172 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.9593T>A (p.Met3198Lys) single nucleotide variant Inborn genetic diseases [RCV003243591] Chr10:128101370 [GRCh38]
Chr10:129899634 [GRCh37]
Chr10:10q26.2		 uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)x3 copy number gain See cases [RCV000449169] Chr10:122125760..135062972 [GRCh37]
Chr10:10q26.12-26.3		 likely pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1 copy number loss See cases [RCV000449336] Chr10:124147428..135370736 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3 copy number gain See cases [RCV000449386] Chr10:104633712..135427143 [GRCh37]
Chr10:10q24.32-26.3		 pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)x1 copy number loss See cases [RCV000446095] Chr10:122343861..135427143 [GRCh37]
Chr10:10q26.12-26.3		 pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3		 pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:128465436-135427143)x1 copy number loss See cases [RCV000447132] Chr10:128465436..135427143 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
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 10q26.2-26.3(chr10:129825453-135427143)x1 copy number loss See cases [RCV000511570] Chr10:129825453..135427143 [GRCh37]
Chr10:10q26.2-26.3		 likely pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:127658004-135427143)x1 copy number loss See cases [RCV000511813] Chr10:127658004..135427143 [GRCh37]
Chr10:10q26.2-26.3		 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 10q25.1-26.3(chr10:106003533-135427143)x3 copy number gain See cases [RCV000510813] Chr10:106003533..135427143 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3		 pathogenic
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_002417.5(MKI67):c.9215C>G (p.Thr3072Ser) single nucleotide variant Inborn genetic diseases [RCV003294701] Chr10:128102625 [GRCh38]
Chr10:129900889 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.3017C>T (p.Pro1006Leu) single nucleotide variant Inborn genetic diseases [RCV003295728] Chr10:128108823 [GRCh38]
Chr10:129907087 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.3561T>G (p.Ile1187Met) single nucleotide variant Inborn genetic diseases [RCV003302529] Chr10:128108279 [GRCh38]
Chr10:129906543 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.7162G>A (p.Asp2388Asn) single nucleotide variant Inborn genetic diseases [RCV003262023] Chr10:128104678 [GRCh38]
Chr10:129902942 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.6632C>T (p.Thr2211Met) single nucleotide variant Inborn genetic diseases [RCV003305802] Chr10:128105208 [GRCh38]
Chr10:129903472 [GRCh37]
Chr10:10q26.2		 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_002417.5(MKI67):c.5812A>G (p.Lys1938Glu) single nucleotide variant Inborn genetic diseases [RCV003246480] Chr10:128106028 [GRCh38]
Chr10:129904292 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.7619C>T (p.Thr2540Ile) single nucleotide variant Inborn genetic diseases [RCV003246481] Chr10:128104221 [GRCh38]
Chr10:129902485 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.8503G>A (p.Ala2835Thr) single nucleotide variant Inborn genetic diseases [RCV003292745] Chr10:128103337 [GRCh38]
Chr10:129901601 [GRCh37]
Chr10:10q26.2		 uncertain significance
GRCh37/hg19 10q26.2-26.3(chr10:129007673-135427143)x3 copy number gain See cases [RCV000512398] Chr10:129007673..135427143 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:125450893-135427143)x1 copy number loss not provided [RCV000683285] Chr10:125450893..135427143 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1 copy number loss not provided [RCV000683286] Chr10:123019239..135427143 [GRCh37]
Chr10:10q26.12-26.3		 pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:127375792-135427143)x1 copy number loss not provided [RCV000683283] Chr10:127375792..135427143 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1 copy number loss not provided [RCV000683287] Chr10:122509781..135427143 [GRCh37]
Chr10:10q26.12-26.3		 pathogenic
GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3 copy number gain not provided [RCV000683288] Chr10:121269222..135427143 [GRCh37]
Chr10:10q26.11-26.3		 pathogenic
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3 copy number gain not provided [RCV000683290] Chr10:105613040..135427143 [GRCh37]
Chr10:10q24.33-26.3		 pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129728658-131585151)x3 copy number gain not provided [RCV000683268] Chr10:129728658..131585151 [GRCh37]
Chr10:10q26.2-26.3		 likely benign
GRCh37/hg19 10q26.12-26.3(chr10:122443197-135477883)x1 copy number loss not provided [RCV000737305] Chr10:122443197..135477883 [GRCh37]
Chr10:10q26.12-26.3		 pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129454892-135447971)x1 copy number loss not provided [RCV000737323] Chr10:129454892..135447971 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129830593-132635031)x1 copy number loss not provided [RCV000737325] Chr10:129830593..132635031 [GRCh37]
Chr10:10q26.2-26.3		 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_002417.5(MKI67):c.6213A>G (p.Gln2071=) single nucleotide variant not provided [RCV000962082] Chr10:128105627 [GRCh38]
Chr10:129903891 [GRCh37]
Chr10:10q26.2		 benign
NM_002417.5(MKI67):c.6189A>G (p.Pro2063=) single nucleotide variant not provided [RCV000962083] Chr10:128105651 [GRCh38]
Chr10:129903915 [GRCh37]
Chr10:10q26.2		 benign
NM_002417.5(MKI67):c.5588A>T (p.Gln1863Leu) single nucleotide variant not provided [RCV000962084] Chr10:128106252 [GRCh38]
Chr10:129904516 [GRCh37]
Chr10:10q26.2		 benign
NM_002417.5(MKI67):c.2937G>A (p.Thr979=) single nucleotide variant not provided [RCV000962085] Chr10:128108903 [GRCh38]
Chr10:129907167 [GRCh37]
Chr10:10q26.2		 benign
NM_002417.5(MKI67):c.5416C>G (p.Leu1806Val) single nucleotide variant not provided [RCV000965824] Chr10:128106424 [GRCh38]
Chr10:129904688 [GRCh37]
Chr10:10q26.2		 benign
NM_002417.5(MKI67):c.4478C>A (p.Ala1493Asp) single nucleotide variant not provided [RCV000965825] Chr10:128107362 [GRCh38]
Chr10:129905626 [GRCh37]
Chr10:10q26.2		 benign
NM_002417.5(MKI67):c.368G>A (p.Arg123His) single nucleotide variant not provided [RCV000972074] Chr10:128116523 [GRCh38]
Chr10:129914787 [GRCh37]
Chr10:10q26.2		 benign
NM_002417.5(MKI67):c.8342C>T (p.Thr2781Ile) single nucleotide variant not provided [RCV000973247] Chr10:128103498 [GRCh38]
Chr10:129901762 [GRCh37]
Chr10:10q26.2		 benign
NM_002417.5(MKI67):c.5851C>A (p.Leu1951Ile) single nucleotide variant not provided [RCV000968197] Chr10:128105989 [GRCh38]
Chr10:129904253 [GRCh37]
Chr10:10q26.2		 benign
NM_002417.5(MKI67):c.4865C>T (p.Pro1622Leu) single nucleotide variant MKI67-related condition [RCV003925940]|not provided [RCV000951290] Chr10:128106975 [GRCh38]
Chr10:129905239 [GRCh37]
Chr10:10q26.2		 likely benign
GRCh37/hg19 10q26.2-26.3(chr10:129381095-135427143)x1 copy number loss not provided [RCV001006364] Chr10:129381095..135427143 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095) copy number gain not provided [RCV000767665] Chr10:110022170..135439095 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
NM_002417.5(MKI67):c.6598C>T (p.Leu2200Phe) single nucleotide variant Inborn genetic diseases [RCV002546020]|MKI67-related condition [RCV003933293]|not provided [RCV000950194] Chr10:128105242 [GRCh38]
Chr10:129903506 [GRCh37]
Chr10:10q26.2		 likely benign|uncertain significance
NM_002417.5(MKI67):c.3903A>G (p.Pro1301=) single nucleotide variant not provided [RCV000968198] Chr10:128107937 [GRCh38]
Chr10:129906201 [GRCh37]
Chr10:10q26.2		 benign
NM_002417.5(MKI67):c.8019C>T (p.Ala2673=) single nucleotide variant not provided [RCV000894424] Chr10:128103821 [GRCh38]
Chr10:129902085 [GRCh37]
Chr10:10q26.2		 benign
NM_002417.5(MKI67):c.7572G>A (p.Ala2524=) single nucleotide variant not provided [RCV000965823] Chr10:128104268 [GRCh38]
Chr10:129902532 [GRCh37]
Chr10:10q26.2		 benign
NM_002417.5(MKI67):c.4350T>A (p.Gly1450=) single nucleotide variant not provided [RCV000965826] Chr10:128107490 [GRCh38]
Chr10:129905754 [GRCh37]
Chr10:10q26.2		 benign
NM_002417.5(MKI67):c.5450G>C (p.Arg1817Thr) single nucleotide variant not provided [RCV000964511] Chr10:128106390 [GRCh38]
Chr10:129904654 [GRCh37]
Chr10:10q26.2		 benign
NM_002417.5(MKI67):c.4581C>T (p.Leu1527=) single nucleotide variant not provided [RCV000971572] Chr10:128107259 [GRCh38]
Chr10:129905523 [GRCh37]
Chr10:10q26.2		 benign
NM_002417.5(MKI67):c.6633G>A (p.Thr2211=) single nucleotide variant not provided [RCV000897768] Chr10:128105207 [GRCh38]
Chr10:129903471 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.8251G>A (p.Asp2751Asn) single nucleotide variant not provided [RCV000954562] Chr10:128103589 [GRCh38]
Chr10:129901853 [GRCh37]
Chr10:10q26.2		 likely benign
GRCh37/hg19 10q26.2-26.3(chr10:129605105-135427143)x1 copy number loss See cases [RCV002285041] Chr10:129605105..135427143 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129009772-135427143)x1 copy number loss not provided [RCV001006362] Chr10:129009772..135427143 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
NM_002417.5(MKI67):c.1927T>C (p.Cys643Arg) single nucleotide variant Inborn genetic diseases [RCV003248460] Chr10:128112175 [GRCh38]
Chr10:129910439 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.8502C>T (p.Thr2834=) single nucleotide variant not provided [RCV000958617] Chr10:128103338 [GRCh38]
Chr10:129901602 [GRCh37]
Chr10:10q26.2		 benign
NM_002417.5(MKI67):c.6939A>G (p.Leu2313=) single nucleotide variant not provided [RCV000958618] Chr10:128104901 [GRCh38]
Chr10:129903165 [GRCh37]
Chr10:10q26.2		 benign|likely benign
GRCh37/hg19 10q26.13-26.3(chr10:124988334-135427143)x3 copy number gain not provided [RCV000848791] Chr10:124988334..135427143 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
NM_002417.5(MKI67):c.4779G>A (p.Glu1593=) single nucleotide variant not provided [RCV000919745] Chr10:128107061 [GRCh38]
Chr10:129905325 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.9704A>G (p.Lys3235Arg) single nucleotide variant not provided [RCV000962080] Chr10:128101259 [GRCh38]
Chr10:129899523 [GRCh37]
Chr10:10q26.2		 benign
NM_002417.5(MKI67):c.4198G>T (p.Val1400Leu) single nucleotide variant not provided [RCV000962942] Chr10:128107642 [GRCh38]
Chr10:129905906 [GRCh37]
Chr10:10q26.2		 likely benign
GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3 copy number gain not provided [RCV001006356] Chr10:119996339..135427143 [GRCh37]
Chr10:10q26.11-26.3		 pathogenic
NM_002417.5(MKI67):c.9103C>A (p.Pro3035Thr) single nucleotide variant Inborn genetic diseases [RCV003250039] Chr10:128102737 [GRCh38]
Chr10:129901001 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.6791A>G (p.Lys2264Arg) single nucleotide variant Inborn genetic diseases [RCV003273565] Chr10:128105049 [GRCh38]
Chr10:129903313 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.8491C>A (p.Leu2831Ile) single nucleotide variant Inborn genetic diseases [RCV003291018] Chr10:128103349 [GRCh38]
Chr10:129901613 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.8159C>A (p.Thr2720Lys) single nucleotide variant Inborn genetic diseases [RCV003240977] Chr10:128103681 [GRCh38]
Chr10:129901945 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.6951T>C (p.Ala2317=) single nucleotide variant not provided [RCV000881310] Chr10:128104889 [GRCh38]
Chr10:129903153 [GRCh37]
Chr10:10q26.2		 benign
NM_002417.5(MKI67):c.2027T>G (p.Val676Gly) single nucleotide variant not provided [RCV000967855] Chr10:128111988 [GRCh38]
Chr10:129910252 [GRCh37]
Chr10:10q26.2		 benign
NM_002417.5(MKI67):c.8776C>A (p.Gln2926Lys) single nucleotide variant not provided [RCV000962081] Chr10:128103064 [GRCh38]
Chr10:129901328 [GRCh37]
Chr10:10q26.2		 benign
NM_002417.5(MKI67):c.5818C>T (p.Arg1940Trp) single nucleotide variant not provided [RCV000973194] Chr10:128106022 [GRCh38]
Chr10:129904286 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.1040C>A (p.Thr347Asn) single nucleotide variant not provided [RCV000908804] Chr10:128115368 [GRCh38]
Chr10:129913632 [GRCh37]
Chr10:10q26.2		 benign
NM_002417.5(MKI67):c.5831C>A (p.Pro1944His) single nucleotide variant not provided [RCV000911195] Chr10:128106009 [GRCh38]
Chr10:129904273 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.473A>G (p.His158Arg) single nucleotide variant not provided [RCV000913377] Chr10:128115935 [GRCh38]
Chr10:129914199 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.2028C>T (p.Val676=) single nucleotide variant not provided [RCV000912304] Chr10:128111987 [GRCh38]
Chr10:129910251 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.4866A>T (p.Pro1622=) single nucleotide variant not provided [RCV000890907] Chr10:128106974 [GRCh38]
Chr10:129905238 [GRCh37]
Chr10:10q26.2		 benign
NM_002417.5(MKI67):c.7946G>A (p.Arg2649His) single nucleotide variant not provided [RCV001720465] Chr10:128103894 [GRCh38]
Chr10:129902158 [GRCh37]
Chr10:10q26.2		 benign
NM_002417.5(MKI67):c.2059A>C (p.Lys687Gln) single nucleotide variant Inborn genetic diseases [RCV003242722] Chr10:128111956 [GRCh38]
Chr10:129910220 [GRCh37]
Chr10:10q26.2		 uncertain significance
GRCh37/hg19 10q26.2(chr10:129160805-129922819)x3 copy number gain not provided [RCV002473640] Chr10:129160805..129922819 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.5187C>T (p.Asn1729=) single nucleotide variant not provided [RCV001614111] Chr10:128106653 [GRCh38]
Chr10:129904917 [GRCh37]
Chr10:10q26.2		 benign
NM_002417.5(MKI67):c.8158A>C (p.Thr2720Pro) single nucleotide variant not provided [RCV001685336] Chr10:128103682 [GRCh38]
Chr10:129901946 [GRCh37]
Chr10:10q26.2		 benign
GRCh37/hg19 10q26.2-26.3(chr10:129031265-135427143)x1 copy number loss not provided [RCV001259085] Chr10:129031265..135427143 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3 copy number gain not provided [RCV001537903] Chr10:118247181..135435319 [GRCh37]
Chr10:10q25.3-26.3		 pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129483682-135434178) copy number loss Global developmental delay [RCV001352664] Chr10:129483682..135434178 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
Single allele deletion Distal 10q deletion syndrome [RCV001391670] Chr10:127548166..135440251 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1 copy number loss See cases [RCV001526488] Chr10:122785023..135457222 [GRCh37]
Chr10:10q26.12-26.3		 pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972) copy number gain not specified [RCV002052894] Chr10:122125760..135062972 [GRCh37]
Chr10:10q26.12-26.3		 likely pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143) copy number loss not specified [RCV002052895] Chr10:122343861..135427143 [GRCh37]
Chr10:10q26.12-26.3		 pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129914228-135427143) copy number loss not specified [RCV002052908] Chr10:129914228..135427143 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143) copy number gain not specified [RCV002052891] Chr10:108455687..135427143 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:128465436-135427143) copy number loss not specified [RCV002052902] Chr10:128465436..135427143 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:127198625-135427143)x3 copy number gain See cases [RCV002292400] Chr10:127198625..135427143 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:126914469-135427143)x1 copy number loss See cases [RCV002292397] Chr10:126914469..135427143 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
NM_002417.5(MKI67):c.4132C>T (p.Pro1378Ser) single nucleotide variant Inborn genetic diseases [RCV003256077] Chr10:128107708 [GRCh38]
Chr10:129905972 [GRCh37]
Chr10:10q26.2		 uncertain significance
GRCh37/hg19 10q26.13-26.3(chr10:126662496-133985966)x3 copy number gain not provided [RCV002474692] Chr10:126662496..133985966 [GRCh37]
Chr10:10q26.13-26.3		 uncertain significance
GRCh37/hg19 10q26.2-26.3(chr10:128877896-131842835)x1 copy number loss not provided [RCV002472530] Chr10:128877896..131842835 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
NM_002417.5(MKI67):c.4991_4992del (p.Thr1664fs) microsatellite Hepatocellular carcinoma [RCV002302677]|Lung cancer [RCV002464568]|Small cell lung carcinoma [RCV002464567] Chr10:128106848..128106849 [GRCh38]
Chr10:129905112..129905113 [GRCh37]
Chr10:10q26.2		 pathogenic
NM_002417.5(MKI67):c.2495G>A (p.Arg832Gln) single nucleotide variant Inborn genetic diseases [RCV002992903] Chr10:128109345 [GRCh38]
Chr10:129907609 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.6500A>C (p.Lys2167Thr) single nucleotide variant Inborn genetic diseases [RCV002817538] Chr10:128105340 [GRCh38]
Chr10:129903604 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.7678G>C (p.Val2560Leu) single nucleotide variant Inborn genetic diseases [RCV002905145] Chr10:128104162 [GRCh38]
Chr10:129902426 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.8297T>C (p.Leu2766Ser) single nucleotide variant Inborn genetic diseases [RCV002865189] Chr10:128103543 [GRCh38]
Chr10:129901807 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.9283C>T (p.Arg3095Cys) single nucleotide variant Inborn genetic diseases [RCV002992103] Chr10:128101680 [GRCh38]
Chr10:129899944 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.4802C>T (p.Thr1601Ile) single nucleotide variant Inborn genetic diseases [RCV002865188] Chr10:128107038 [GRCh38]
Chr10:129905302 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.9541G>T (p.Val3181Phe) single nucleotide variant Inborn genetic diseases [RCV002879841] Chr10:128101422 [GRCh38]
Chr10:129899686 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.8321C>T (p.Pro2774Leu) single nucleotide variant Inborn genetic diseases [RCV002997444] Chr10:128103519 [GRCh38]
Chr10:129901783 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.5711T>G (p.Met1904Arg) single nucleotide variant Inborn genetic diseases [RCV002779866] Chr10:128106129 [GRCh38]
Chr10:129904393 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.5560A>G (p.Thr1854Ala) single nucleotide variant Inborn genetic diseases [RCV002771957] Chr10:128106280 [GRCh38]
Chr10:129904544 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.5240C>A (p.Thr1747Asn) single nucleotide variant Inborn genetic diseases [RCV002778100] Chr10:128106600 [GRCh38]
Chr10:129904864 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.5993G>A (p.Arg1998Gln) single nucleotide variant Inborn genetic diseases [RCV002974324] Chr10:128105847 [GRCh38]
Chr10:129904111 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.6800A>G (p.Asp2267Gly) single nucleotide variant Inborn genetic diseases [RCV002883423] Chr10:128105040 [GRCh38]
Chr10:129903304 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.8536G>A (p.Ala2846Thr) single nucleotide variant Inborn genetic diseases [RCV002991051] Chr10:128103304 [GRCh38]
Chr10:129901568 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.4817C>G (p.Thr1606Ser) single nucleotide variant Inborn genetic diseases [RCV002776795] Chr10:128107023 [GRCh38]
Chr10:129905287 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.3986G>T (p.Ser1329Ile) single nucleotide variant Inborn genetic diseases [RCV002687695] Chr10:128107854 [GRCh38]
Chr10:129906118 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.953G>A (p.Gly318Glu) single nucleotide variant Inborn genetic diseases [RCV002771781] Chr10:128115455 [GRCh38]
Chr10:129913719 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.6182G>T (p.Arg2061Met) single nucleotide variant Inborn genetic diseases [RCV002773709] Chr10:128105658 [GRCh38]
Chr10:129903922 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.6826G>C (p.Glu2276Gln) single nucleotide variant Inborn genetic diseases [RCV002732539] Chr10:128105014 [GRCh38]
Chr10:129903278 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.9391A>T (p.Met3131Leu) single nucleotide variant Inborn genetic diseases [RCV002732946] Chr10:128101572 [GRCh38]
Chr10:129899836 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.1003G>A (p.Ala335Thr) single nucleotide variant Inborn genetic diseases [RCV002688908] Chr10:128115405 [GRCh38]
Chr10:129913669 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.9421C>T (p.Arg3141Trp) single nucleotide variant Inborn genetic diseases [RCV002777822] Chr10:128101542 [GRCh38]
Chr10:129899806 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.309G>T (p.Gln103His) single nucleotide variant Inborn genetic diseases [RCV002793938] Chr10:128119298 [GRCh38]
Chr10:129917562 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.8806A>G (p.Asn2936Asp) single nucleotide variant Inborn genetic diseases [RCV002845942] Chr10:128103034 [GRCh38]
Chr10:129901298 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.6613A>G (p.Ile2205Val) single nucleotide variant Inborn genetic diseases [RCV002784106] Chr10:128105227 [GRCh38]
Chr10:129903491 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.7959A>C (p.Lys2653Asn) single nucleotide variant Inborn genetic diseases [RCV002910921] Chr10:128103881 [GRCh38]
Chr10:129902145 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.9104C>T (p.Pro3035Leu) single nucleotide variant Inborn genetic diseases [RCV002757573] Chr10:128102736 [GRCh38]
Chr10:129901000 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.6578A>C (p.Asp2193Ala) single nucleotide variant Inborn genetic diseases [RCV002845667] Chr10:128105262 [GRCh38]
Chr10:129903526 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.4430C>T (p.Pro1477Leu) single nucleotide variant Inborn genetic diseases [RCV002911535] Chr10:128107410 [GRCh38]
Chr10:129905674 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.1379C>A (p.Ser460Tyr) single nucleotide variant Inborn genetic diseases [RCV002910397] Chr10:128115029 [GRCh38]
Chr10:129913293 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.3995G>A (p.Arg1332Gln) single nucleotide variant Inborn genetic diseases [RCV002707160] Chr10:128107845 [GRCh38]
Chr10:129906109 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.6082A>G (p.Thr2028Ala) single nucleotide variant Inborn genetic diseases [RCV002785188] Chr10:128105758 [GRCh38]
Chr10:129904022 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.3527C>T (p.Thr1176Met) single nucleotide variant Inborn genetic diseases [RCV002662262] Chr10:128108313 [GRCh38]
Chr10:129906577 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.904G>A (p.Ala302Thr) single nucleotide variant Inborn genetic diseases [RCV002707204] Chr10:128115504 [GRCh38]
Chr10:129913768 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.7075C>T (p.Arg2359Trp) single nucleotide variant Inborn genetic diseases [RCV002694347] Chr10:128104765 [GRCh38]
Chr10:129903029 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.6326A>T (p.Glu2109Val) single nucleotide variant Inborn genetic diseases [RCV002799021] Chr10:128105514 [GRCh38]
Chr10:129903778 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.367C>G (p.Arg123Gly) single nucleotide variant Inborn genetic diseases [RCV002889112] Chr10:128116524 [GRCh38]
Chr10:129914788 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.4657G>A (p.Ala1553Thr) single nucleotide variant Inborn genetic diseases [RCV002691878] Chr10:128107183 [GRCh38]
Chr10:129905447 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.3176C>A (p.Ala1059Glu) single nucleotide variant Inborn genetic diseases [RCV002798529] Chr10:128108664 [GRCh38]
Chr10:129906928 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.8861A>T (p.Lys2954Ile) single nucleotide variant Inborn genetic diseases [RCV002887328] Chr10:128102979 [GRCh38]
Chr10:129901243 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.9096G>T (p.Arg3032Ser) single nucleotide variant Inborn genetic diseases [RCV003000778] Chr10:128102744 [GRCh38]
Chr10:129901008 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.1287T>G (p.Asp429Glu) single nucleotide variant Inborn genetic diseases [RCV003004674] Chr10:128115121 [GRCh38]
Chr10:129913385 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.9683G>A (p.Arg3228Lys) single nucleotide variant Inborn genetic diseases [RCV002712636] Chr10:128101280 [GRCh38]
Chr10:129899544 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.1787G>A (p.Arg596His) single nucleotide variant Inborn genetic diseases [RCV002702040] Chr10:128112315 [GRCh38]
Chr10:129910579 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.6320C>T (p.Pro2107Leu) single nucleotide variant Inborn genetic diseases [RCV002697197] Chr10:128105520 [GRCh38]
Chr10:129903784 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.4190A>G (p.Lys1397Arg) single nucleotide variant Inborn genetic diseases [RCV002696630] Chr10:128107650 [GRCh38]
Chr10:129905914 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.4924G>A (p.Val1642Met) single nucleotide variant Inborn genetic diseases [RCV002699933] Chr10:128106916 [GRCh38]
Chr10:129905180 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.4876C>T (p.Pro1626Ser) single nucleotide variant Inborn genetic diseases [RCV002803817] Chr10:128106964 [GRCh38]
Chr10:129905228 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.5533G>A (p.Asp1845Asn) single nucleotide variant Inborn genetic diseases [RCV002644869] Chr10:128106307 [GRCh38]
Chr10:129904571 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.6742G>A (p.Val2248Ile) single nucleotide variant Inborn genetic diseases [RCV002983838] Chr10:128105098 [GRCh38]
Chr10:129903362 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.6095C>T (p.Thr2032Ile) single nucleotide variant Inborn genetic diseases [RCV002803939] Chr10:128105745 [GRCh38]
Chr10:129904009 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.242G>A (p.Arg81Gln) single nucleotide variant Inborn genetic diseases [RCV002955487] Chr10:128122926 [GRCh38]
Chr10:129921190 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.2473T>A (p.Ser825Thr) single nucleotide variant Inborn genetic diseases [RCV002645552] Chr10:128109367 [GRCh38]
Chr10:129907631 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.3725C>G (p.Ala1242Gly) single nucleotide variant Inborn genetic diseases [RCV002645553] Chr10:128108115 [GRCh38]
Chr10:129906379 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.8623C>T (p.Pro2875Ser) single nucleotide variant Inborn genetic diseases [RCV002983268] Chr10:128103217 [GRCh38]
Chr10:129901481 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.5656G>A (p.Val1886Ile) single nucleotide variant Inborn genetic diseases [RCV002742751] Chr10:128106184 [GRCh38]
Chr10:129904448 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.6590T>C (p.Leu2197Ser) single nucleotide variant Inborn genetic diseases [RCV002986097] Chr10:128105250 [GRCh38]
Chr10:129903514 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.7507C>T (p.Arg2503Trp) single nucleotide variant Inborn genetic diseases [RCV002745204] Chr10:128104333 [GRCh38]
Chr10:129902597 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.2384A>G (p.Glu795Gly) single nucleotide variant Inborn genetic diseases [RCV002986216] Chr10:128110410 [GRCh38]
Chr10:129908674 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.3553A>G (p.Lys1185Glu) single nucleotide variant Inborn genetic diseases [RCV002893814] Chr10:128108287 [GRCh38]
Chr10:129906551 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.3161C>T (p.Thr1054Met) single nucleotide variant Inborn genetic diseases [RCV002765042] Chr10:128108679 [GRCh38]
Chr10:129906943 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.2212A>G (p.Asn738Asp) single nucleotide variant Inborn genetic diseases [RCV002986096] Chr10:128111693 [GRCh38]
Chr10:129909957 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.7978G>A (p.Glu2660Lys) single nucleotide variant Inborn genetic diseases [RCV002986122] Chr10:128103862 [GRCh38]
Chr10:129902126 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.8227A>T (p.Thr2743Ser) single nucleotide variant Inborn genetic diseases [RCV002744754] Chr10:128103613 [GRCh38]
Chr10:129901877 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.6547A>T (p.Thr2183Ser) single nucleotide variant Inborn genetic diseases [RCV002813515] Chr10:128105293 [GRCh38]
Chr10:129903557 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.5038C>T (p.Pro1680Ser) single nucleotide variant Inborn genetic diseases [RCV002675245] Chr10:128106802 [GRCh38]
Chr10:129905066 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.8608C>T (p.His2870Tyr) single nucleotide variant Inborn genetic diseases [RCV002835947] Chr10:128103232 [GRCh38]
Chr10:129901496 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.8069G>T (p.Gly2690Val) single nucleotide variant Inborn genetic diseases [RCV002934498] Chr10:128103771 [GRCh38]
Chr10:129902035 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.9106A>G (p.Arg3036Gly) single nucleotide variant Inborn genetic diseases [RCV002832738] Chr10:128102734 [GRCh38]
Chr10:129900998 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.983C>A (p.Thr328Asn) single nucleotide variant Inborn genetic diseases [RCV002717622] Chr10:128115425 [GRCh38]
Chr10:129913689 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.8216C>T (p.Ala2739Val) single nucleotide variant Inborn genetic diseases [RCV002832429] Chr10:128103624 [GRCh38]
Chr10:129901888 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.5062G>T (p.Ala1688Ser) single nucleotide variant Inborn genetic diseases [RCV002831272] Chr10:128106778 [GRCh38]
Chr10:129905042 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.7894A>G (p.Thr2632Ala) single nucleotide variant Inborn genetic diseases [RCV002669884] Chr10:128103946 [GRCh38]
Chr10:129902210 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.4997C>A (p.Pro1666Gln) single nucleotide variant Inborn genetic diseases [RCV002809526] Chr10:128106843 [GRCh38]
Chr10:129905107 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.2307G>C (p.Leu769Phe) single nucleotide variant Inborn genetic diseases [RCV002668769]|not provided [RCV003395627] Chr10:128110487 [GRCh38]
Chr10:129908751 [GRCh37]
Chr10:10q26.2		 likely benign|uncertain significance
NM_002417.5(MKI67):c.4194G>T (p.Arg1398Ser) single nucleotide variant Inborn genetic diseases [RCV002674450] Chr10:128107646 [GRCh38]
Chr10:129905910 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.5965G>C (p.Val1989Leu) single nucleotide variant Inborn genetic diseases [RCV002809777] Chr10:128105875 [GRCh38]
Chr10:129904139 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.7790C>T (p.Ala2597Val) single nucleotide variant Inborn genetic diseases [RCV002714116] Chr10:128104050 [GRCh38]
Chr10:129902314 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.3779A>G (p.Asp1260Gly) single nucleotide variant Inborn genetic diseases [RCV002669433] Chr10:128108061 [GRCh38]
Chr10:129906325 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.3902C>G (p.Pro1301Arg) single nucleotide variant Inborn genetic diseases [RCV002669883] Chr10:128107938 [GRCh38]
Chr10:129906202 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.5203G>A (p.Val1735Ile) single nucleotide variant Inborn genetic diseases [RCV002748347] Chr10:128106637 [GRCh38]
Chr10:129904901 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.389C>T (p.Ser130Phe) single nucleotide variant Inborn genetic diseases [RCV002939164] Chr10:128116502 [GRCh38]
Chr10:129914766 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.5274T>A (p.Ser1758Arg) single nucleotide variant Inborn genetic diseases [RCV002941511] Chr10:128106566 [GRCh38]
Chr10:129904830 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.7898A>G (p.His2633Arg) single nucleotide variant Inborn genetic diseases [RCV002670266] Chr10:128103942 [GRCh38]
Chr10:129902206 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.7888A>G (p.Thr2630Ala) single nucleotide variant Inborn genetic diseases [RCV002652939] Chr10:128103952 [GRCh38]
Chr10:129902216 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.779A>G (p.Tyr260Cys) single nucleotide variant Inborn genetic diseases [RCV002678261] Chr10:128115629 [GRCh38]
Chr10:129913893 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.3382G>T (p.Ala1128Ser) single nucleotide variant Inborn genetic diseases [RCV002655318] Chr10:128108458 [GRCh38]
Chr10:129906722 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.2381G>C (p.Gly794Ala) single nucleotide variant Inborn genetic diseases [RCV002655740] Chr10:128110413 [GRCh38]
Chr10:129908677 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.641G>A (p.Arg214His) single nucleotide variant Inborn genetic diseases [RCV003195548] Chr10:128115767 [GRCh38]
Chr10:129914031 [GRCh37]
Chr10:10q26.2		 likely benign
GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1 copy number loss not provided [RCV003222684] Chr10:122610933..135439810 [GRCh37]
Chr10:10q26.12-26.3		 pathogenic
NM_002417.5(MKI67):c.8606C>T (p.Thr2869Met) single nucleotide variant Inborn genetic diseases [RCV003178198] Chr10:128103234 [GRCh38]
Chr10:129901498 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.9152G>T (p.Ser3051Ile) single nucleotide variant Inborn genetic diseases [RCV003211067] Chr10:128102688 [GRCh38]
Chr10:129900952 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.7709G>C (p.Gly2570Ala) single nucleotide variant Inborn genetic diseases [RCV003217121] Chr10:128104131 [GRCh38]
Chr10:129902395 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.8147C>T (p.Thr2716Ile) single nucleotide variant Inborn genetic diseases [RCV003184176] Chr10:128103693 [GRCh38]
Chr10:129901957 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.8851G>A (p.Asp2951Asn) single nucleotide variant Inborn genetic diseases [RCV003206925] Chr10:128102989 [GRCh38]
Chr10:129901253 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.8614G>C (p.Asp2872His) single nucleotide variant Inborn genetic diseases [RCV003287179] Chr10:128103226 [GRCh38]
Chr10:129901490 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.3432G>T (p.Lys1144Asn) single nucleotide variant Inborn genetic diseases [RCV003207753] Chr10:128108408 [GRCh38]
Chr10:129906672 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.6773G>C (p.Arg2258Pro) single nucleotide variant Inborn genetic diseases [RCV003202944] Chr10:128105067 [GRCh38]
Chr10:129903331 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.2909T>C (p.Leu970Ser) single nucleotide variant Inborn genetic diseases [RCV003220176] Chr10:128108931 [GRCh38]
Chr10:129907195 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.7259G>T (p.Ser2420Ile) single nucleotide variant Inborn genetic diseases [RCV003215172] Chr10:128104581 [GRCh38]
Chr10:129902845 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.8431A>T (p.Thr2811Ser) single nucleotide variant Inborn genetic diseases [RCV003211426] Chr10:128103409 [GRCh38]
Chr10:129901673 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.7186G>A (p.Asp2396Asn) single nucleotide variant Inborn genetic diseases [RCV003218259] Chr10:128104654 [GRCh38]
Chr10:129902918 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.5204T>G (p.Val1735Gly) single nucleotide variant Inborn genetic diseases [RCV003178510] Chr10:128106636 [GRCh38]
Chr10:129904900 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.8668A>G (p.Lys2890Glu) single nucleotide variant Inborn genetic diseases [RCV003259684] Chr10:128103172 [GRCh38]
Chr10:129901436 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.4087G>C (p.Val1363Leu) single nucleotide variant Inborn genetic diseases [RCV003284683] Chr10:128107753 [GRCh38]
Chr10:129906017 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.8469A>G (p.Ile2823Met) single nucleotide variant Inborn genetic diseases [RCV003185653] Chr10:128103371 [GRCh38]
Chr10:129901635 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.6064T>C (p.Ser2022Pro) single nucleotide variant Inborn genetic diseases [RCV003212667] Chr10:128105776 [GRCh38]
Chr10:129904040 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.5548G>A (p.Asp1850Asn) single nucleotide variant Inborn genetic diseases [RCV003189796] Chr10:128106292 [GRCh38]
Chr10:129904556 [GRCh37]
Chr10:10q26.2		 uncertain significance
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_002417.5(MKI67):c.3290A>G (p.Gln1097Arg) single nucleotide variant Inborn genetic diseases [RCV003309022] Chr10:128108550 [GRCh38]
Chr10:129906814 [GRCh37]
Chr10:10q26.2		 likely benign
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
GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143) copy number loss Distal 10q deletion syndrome [RCV003319590] Chr10:123477898..135427143 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
NM_002417.5(MKI67):c.6775A>G (p.Thr2259Ala) single nucleotide variant Inborn genetic diseases [RCV003286324] Chr10:128105065 [GRCh38]
Chr10:129903329 [GRCh37]
Chr10:10q26.2		 uncertain significance
GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1 copy number loss Distal 10q deletion syndrome [RCV003329543] Chr10:124895517..135440296 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
NM_002417.5(MKI67):c.6278C>T (p.Thr2093Ile) single nucleotide variant Inborn genetic diseases [RCV003339413] Chr10:128105562 [GRCh38]
Chr10:129903826 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.5485C>G (p.Leu1829Val) single nucleotide variant Inborn genetic diseases [RCV003343066] Chr10:128106355 [GRCh38]
Chr10:129904619 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.8024C>T (p.Pro2675Leu) single nucleotide variant Inborn genetic diseases [RCV003358535] Chr10:128103816 [GRCh38]
Chr10:129902080 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.4502T>G (p.Val1501Gly) single nucleotide variant Inborn genetic diseases [RCV003378815] Chr10:128107338 [GRCh38]
Chr10:129905602 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.3651G>A (p.Lys1217=) single nucleotide variant not provided [RCV003394597] Chr10:128108189 [GRCh38]
Chr10:129906453 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.510C>G (p.Asp170Glu) single nucleotide variant not provided [RCV003394599] Chr10:128115898 [GRCh38]
Chr10:129914162 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.5372A>C (p.Glu1791Ala) single nucleotide variant Inborn genetic diseases [RCV003372095] Chr10:128106468 [GRCh38]
Chr10:129904732 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.5810G>A (p.Ser1937Asn) single nucleotide variant Inborn genetic diseases [RCV003363254] Chr10:128106030 [GRCh38]
Chr10:129904294 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.4793G>A (p.Arg1598Gln) single nucleotide variant Inborn genetic diseases [RCV003364721] Chr10:128107047 [GRCh38]
Chr10:129905311 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.1724G>A (p.Ser575Asn) single nucleotide variant Inborn genetic diseases [RCV003351124] Chr10:128112378 [GRCh38]
Chr10:129910642 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.8347A>G (p.Ser2783Gly) single nucleotide variant Inborn genetic diseases [RCV003367702] Chr10:128103493 [GRCh38]
Chr10:129901757 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.6278C>A (p.Thr2093Lys) single nucleotide variant Inborn genetic diseases [RCV003371246] Chr10:128105562 [GRCh38]
Chr10:129903826 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.4499C>A (p.Pro1500Gln) single nucleotide variant Inborn genetic diseases [RCV003356288] Chr10:128107341 [GRCh38]
Chr10:129905605 [GRCh37]
Chr10:10q26.2		 uncertain significance
GRCh37/hg19 10q26.2-26.3(chr10:128289206-135427143)x1 copy number loss Distal 10q deletion syndrome [RCV003458182] Chr10:128289206..135427143 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3 copy number gain not provided [RCV003484817] Chr10:111447991..133435388 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
NM_002417.5(MKI67):c.9727A>C (p.Lys3243Gln) single nucleotide variant MKI67-related condition [RCV003405923] Chr10:128099234 [GRCh38]
Chr10:129897498 [GRCh37]
Chr10:10q26.2		 uncertain significance
GRCh37/hg19 10q26.2-26.3(chr10:128925940-135427143)x1 copy number loss not provided [RCV003483108] Chr10:128925940..135427143 [GRCh37]
Chr10:10q26.2-26.3		 pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3 copy number gain Distal trisomy 10q [RCV003458955] Chr10:111378692..135427143 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
NM_002417.5(MKI67):c.2301G>T (p.Pro767=) single nucleotide variant not provided [RCV003389961] Chr10:128110493 [GRCh38]
Chr10:129908757 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.6017T>C (p.Val2006Ala) single nucleotide variant not provided [RCV003394595] Chr10:128105823 [GRCh38]
Chr10:129904087 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.7820G>A (p.Arg2607His) single nucleotide variant not provided [RCV003394594] Chr10:128104020 [GRCh38]
Chr10:129902284 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.4392A>G (p.Leu1464=) single nucleotide variant not provided [RCV003394596] Chr10:128107448 [GRCh38]
Chr10:129905712 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.1305G>A (p.Thr435=) single nucleotide variant not provided [RCV003394598] Chr10:128115103 [GRCh38]
Chr10:129913367 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.7999A>T (p.Arg2667Ter) single nucleotide variant MKI67-related condition [RCV003406191] Chr10:128103841 [GRCh38]
Chr10:129902105 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.4601C>T (p.Ala1534Val) single nucleotide variant MKI67-related condition [RCV003397457] Chr10:128107239 [GRCh38]
Chr10:129905503 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.8743C>T (p.Leu2915=) single nucleotide variant not provided [RCV003394593] Chr10:128103097 [GRCh38]
Chr10:129901361 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.9101C>T (p.Ala3034Val) single nucleotide variant MKI67-related condition [RCV003939498] Chr10:128102739 [GRCh38]
Chr10:129901003 [GRCh37]
Chr10:10q26.2		 uncertain significance
GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1 copy number loss Duane syndrome type 1 [RCV003984306] Chr10:125976998..133427130 [GRCh38]
Chr10:10q26.2-26.3		 pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1 copy number loss not specified [RCV003986904] Chr10:125987494..135427143 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1 copy number loss not specified [RCV003986878] Chr10:126127397..135427143 [GRCh37]
Chr10:10q26.13-26.3		 pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
NM_002417.5(MKI67):c.7660C>T (p.Arg2554Cys) single nucleotide variant MKI67-related condition [RCV003924615] Chr10:128104180 [GRCh38]
Chr10:129902444 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.2790G>A (p.Glu930=) single nucleotide variant MKI67-related condition [RCV003951787] Chr10:128109050 [GRCh38]
Chr10:129907314 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.7907C>T (p.Pro2636Leu) single nucleotide variant MKI67-related condition [RCV003913909] Chr10:128103933 [GRCh38]
Chr10:129902197 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.1115G>T (p.Arg372Ile) single nucleotide variant MKI67-related condition [RCV003969565] Chr10:128115293 [GRCh38]
Chr10:129913557 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.967G>A (p.Val323Met) single nucleotide variant MKI67-related condition [RCV003934178] Chr10:128115441 [GRCh38]
Chr10:129913705 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.7973A>G (p.Glu2658Gly) single nucleotide variant MKI67-related condition [RCV003969242] Chr10:128103867 [GRCh38]
Chr10:129902131 [GRCh37]
Chr10:10q26.2		 likely benign
NM_002417.5(MKI67):c.1999C>T (p.Leu667Phe) single nucleotide variant Inborn genetic diseases [RCV003360062] Chr10:128112016 [GRCh38]
Chr10:129910280 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.8650G>A (p.Ala2884Thr) single nucleotide variant Inborn genetic diseases [RCV003341344] Chr10:128103190 [GRCh38]
Chr10:129901454 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.5108A>G (p.Lys1703Arg) single nucleotide variant Inborn genetic diseases [RCV003357294] Chr10:128106732 [GRCh38]
Chr10:129904996 [GRCh37]
Chr10:10q26.2		 uncertain significance
NM_002417.5(MKI67):c.8671C>G (p.Arg2891Gly) single nucleotide variant Inborn genetic diseases [RCV003359607] Chr10:128103169 [GRCh38]
Chr10:129901433 [GRCh37]
Chr10:10q26.2		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR519Dhsa-miR-519d-3pOncomiRDBexternal_infoNANA21524841
MIR1909hsa-miR-1909-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:3742
Count of miRNA genes:942
Interacting mature miRNAs:1126
Transcripts:ENST00000368653, ENST00000368654, ENST00000464771, ENST00000478293, ENST00000484853
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.

Markers in Region
D10S2184  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710129,895,003 - 129,895,117UniSTSGRCh37
Build 3610129,784,993 - 129,785,107RGDNCBI36
Celera10123,566,479 - 123,566,593RGD
Cytogenetic Map10q26.2UniSTS
HuRef10123,469,713 - 123,469,827UniSTS
Whitehead-YAC Contig Map10 UniSTS
SHGC-52534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710129,903,510 - 129,903,735UniSTSGRCh37
Build 3610129,793,500 - 129,793,725RGDNCBI36
Celera10123,574,986 - 123,575,211RGD
Cytogenetic Map10q26.2UniSTS
HuRef10123,478,220 - 123,478,445UniSTS
TNG Radiation Hybrid Map1034982.0UniSTS
GeneMap99-G3 RH Map106437.0UniSTS
SHGC-145292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710129,922,117 - 129,922,425UniSTSGRCh37
Build 3610129,812,107 - 129,812,415RGDNCBI36
Celera10123,593,602 - 123,593,910RGD
Cytogenetic Map10q26.2UniSTS
HuRef10123,496,836 - 123,497,144UniSTS
TNG Radiation Hybrid Map1034996.0UniSTS
RH1579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710129,896,205 - 129,896,389UniSTSGRCh37
Build 3610129,786,195 - 129,786,379RGDNCBI36
Celera10123,567,681 - 123,567,865RGD
Cytogenetic Map10q26.2UniSTS
HuRef10123,470,915 - 123,471,099UniSTS
GeneMap99-GB4 RH Map10556.09UniSTS
MKI67_7831  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710129,895,900 - 129,896,797UniSTSGRCh37
Build 3610129,785,890 - 129,786,787RGDNCBI36
Celera10123,567,376 - 123,568,273RGD
HuRef10123,470,610 - 123,471,507UniSTS
D10S1202  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710129,907,474 - 129,907,674UniSTSGRCh37
Build 3610129,797,464 - 129,797,664RGDNCBI36
Celera10123,578,950 - 123,579,150RGD
Cytogenetic Map10q26.2UniSTS
HuRef10123,482,184 - 123,482,384UniSTS
TNG Radiation Hybrid Map1035000.0UniSTS
SHGC-63598  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710129,897,041 - 129,897,133UniSTSGRCh37
Build 3610129,787,031 - 129,787,123RGDNCBI36
Celera10123,568,517 - 123,568,609RGD
Cytogenetic Map10q26.2UniSTS
HuRef10123,471,751 - 123,471,843UniSTS
TNG Radiation Hybrid Map1034985.0UniSTS
STS-R96656  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710129,894,964 - 129,895,099UniSTSGRCh37
Build 3610129,784,954 - 129,785,089RGDNCBI36
Celera10123,566,440 - 123,566,575RGD
Cytogenetic Map10q26.2UniSTS
HuRef10123,469,674 - 123,469,809UniSTS
GeneMap99-GB4 RH Map10556.19UniSTS
NCBI RH Map101382.8UniSTS


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 visual system adipose tissue appendage entire extraembryonic component
High
Medium 359 32 83 74 794 73 338 62 122 88 315 305 14 7 25 3
Low 838 1025 629 271 843 170 1812 209 249 184 707 848 102 531 921 1
Below cutoff 1239 1922 1010 275 307 219 2190 1901 3230 137 424 458 58 1 666 1826 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ567755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ567756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ567757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM699306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU632619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU855841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI179092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X65550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X65551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X74107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X94762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000368653   ⟹   ENSP00000357642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10128,096,659 - 128,126,204 (-)Ensembl
RefSeq Acc Id: ENST00000368654   ⟹   ENSP00000357643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10128,096,659 - 128,126,423 (-)Ensembl
RefSeq Acc Id: ENST00000464771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10128,101,484 - 128,103,128 (-)Ensembl
RefSeq Acc Id: ENST00000478293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10128,115,510 - 128,126,235 (-)Ensembl
RefSeq Acc Id: ENST00000484853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10128,111,520 - 128,112,449 (-)Ensembl
RefSeq Acc Id: NM_001145966   ⟹   NP_001139438
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810128,096,659 - 128,126,423 (-)NCBI
GRCh3710129,894,923 - 129,924,468 (-)NCBI
HuRef10123,469,633 - 123,499,187 (-)ENTREZGENE
CHM1_110130,177,330 - 130,206,878 (-)NCBI
T2T-CHM13v2.010128,995,212 - 129,024,955 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002417   ⟹   NP_002408
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810128,096,659 - 128,126,423 (-)NCBI
GRCh3710129,894,923 - 129,924,468 (-)ENTREZGENE
Build 3610129,784,913 - 129,814,645 (-)NCBI Archive
HuRef10123,469,633 - 123,499,187 (-)ENTREZGENE
CHM1_110130,177,330 - 130,206,878 (-)NCBI
T2T-CHM13v2.010128,995,212 - 129,024,955 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006717864   ⟹   XP_006717927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810128,096,659 - 128,110,533 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539818   ⟹   XP_011538120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810128,096,659 - 128,126,213 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054365949   ⟹   XP_054221924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010128,995,212 - 129,009,086 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001139438   ⟸   NM_001145966
- Peptide Label: isoform 2
- UniProtKB: P46013 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002408   ⟸   NM_002417
- Peptide Label: isoform 1
- UniProtKB: Q5VWH2 (UniProtKB/Swiss-Prot),   P46013 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006717927   ⟸   XM_006717864
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011538120   ⟸   XM_011539818
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000357642   ⟸   ENST00000368653
RefSeq Acc Id: ENSP00000357643   ⟸   ENST00000368654
RefSeq Acc Id: XP_054221924   ⟸   XM_054365949
- Peptide Label: isoform X1
Protein Domains
FHA   PP1-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P46013-F1-model_v2 AlphaFold P46013 1-1400 view protein structure
AF-P46013-F2-model_v2 AlphaFold P46013 201-1600 view protein structure
AF-P46013-F3-model_v2 AlphaFold P46013 401-1800 view protein structure
AF-P46013-F4-model_v2 AlphaFold P46013 601-2000 view protein structure
AF-P46013-F5-model_v2 AlphaFold P46013 801-2200 view protein structure
AF-P46013-F6-model_v2 AlphaFold P46013 1001-2400 view protein structure
AF-P46013-F7-model_v2 AlphaFold P46013 1201-2600 view protein structure
AF-P46013-F8-model_v2 AlphaFold P46013 1401-2800 view protein structure
AF-P46013-F9-model_v2 AlphaFold P46013 1601-3000 view protein structure
AF-P46013-F10-model_v2 AlphaFold P46013 1801-3200 view protein structure
AF-P46013-F11-model_v2 AlphaFold P46013 2001-3256 view protein structure

Promoters
RGD ID:6787884
Promoter ID:HG_KWN:11649
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000051001
Position:
Human AssemblyChrPosition (strand)Source
Build 3610129,790,941 - 129,792,082 (-)MPROMDB
RGD ID:6787885
Promoter ID:HG_KWN:11650
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000051003
Position:
Human AssemblyChrPosition (strand)Source
Build 3610129,800,206 - 129,801,477 (-)MPROMDB
RGD ID:6787594
Promoter ID:HG_KWN:11651
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   Lymphoblastoid
Transcripts:ENST00000368651
Position:
Human AssemblyChrPosition (strand)Source
Build 3610129,804,066 - 129,804,592 (-)MPROMDB
RGD ID:6787886
Promoter ID:HG_KWN:11652
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000368653,   ENST00000368654,   OTTHUMT00000051002,   UC009YAV.1,   UC009YAW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3610129,813,836 - 129,814,987 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7107 AgrOrtholog
COSMIC MKI67 COSMIC
Ensembl Genes ENSG00000148773 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000368653 ENTREZGENE
  ENST00000368653.7 UniProtKB/Swiss-Prot
  ENST00000368654 ENTREZGENE
  ENST00000368654.8 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.200.20 UniProtKB/Swiss-Prot
GTEx ENSG00000148773 GTEx
HGNC ID HGNC:7107 ENTREZGENE
Human Proteome Map MKI67 Human Proteome Map
InterPro FHA_dom UniProtKB/Swiss-Prot
  KI67R UniProtKB/Swiss-Prot
  PP1-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMAD_FHA_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:4288 UniProtKB/Swiss-Prot
NCBI Gene 4288 ENTREZGENE
OMIM 176741 OMIM
PANTHER ANTIGEN KI-67-LIKE PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROLIFERATION MARKER PROTEIN KI-67 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FHA UniProtKB/Swiss-Prot
  KI67R UniProtKB/Swiss-Prot
  PP1_bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30825 PharmGKB
PROSITE FHA_DOMAIN UniProtKB/Swiss-Prot
SMART FHA UniProtKB/Swiss-Prot
  K167R UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49879 UniProtKB/Swiss-Prot
UniProt KI67_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5VWH2 ENTREZGENE
  Q70L72_HUMAN UniProtKB/TrEMBL
  Q70L73_HUMAN UniProtKB/TrEMBL
  Q70L74_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q5VWH2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-10-22 MKI67  marker of proliferation Ki-67  MKI67  antigen identified by monoclonal antibody Ki-67  Symbol and/or name change 5135510 APPROVED