CDKN2B (cyclin dependent kinase inhibitor 2B) - Rat Genome Database

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Gene: CDKN2B (cyclin dependent kinase inhibitor 2B) Homo sapiens
Analyze
Symbol: CDKN2B
Name: cyclin dependent kinase inhibitor 2B
RGD ID: 1348731
HGNC Page HGNC:1788
Description: Enables cyclin-dependent protein serine/threonine kinase inhibitor activity and protein kinase binding activity. Involved in several processes, including cellular response to cell-matrix adhesion; positive regulation of transforming growth factor beta receptor signaling pathway; and regulation of cell cycle process. Located in cytoplasm and nucleus. Implicated in carcinoma (multiple); erythema infectiosum; hematologic cancer (multiple); open-angle glaucoma; and urinary bladder cancer. Biomarker of acute myeloid leukemia; carcinoma (multiple); cervix uteri carcinoma in situ; and reproductive organ cancer (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CDK inhibitory protein; CDK4B inhibitor; CDK4I; cyclin-dependent kinase 4 inhibitor B; cyclin-dependent kinase inhibitor 2B; cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4); cyclin-dependent kinases 4 and 6 binding protein; INK4B; MTS-2; MTS2; multiple tumor suppressor 2; p14-INK4b; p14_CDK inhibitor; p14_INK4B; P15; p15 CDK inhibitor; p15-INK4b; p15_INK4B; p15INK4b; TP15
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38922,002,903 - 22,009,313 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl922,002,903 - 22,009,305 (-)EnsemblGRCh38hg38GRCh38
GRCh37922,002,902 - 22,009,312 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36921,992,902 - 21,999,312 (-)NCBINCBI36Build 36hg18NCBI36
Build 34921,992,902 - 21,999,312NCBI
Celera921,941,270 - 21,947,682 (-)NCBICelera
Cytogenetic Map9p21.3NCBI
HuRef921,966,171 - 21,972,582 (-)NCBIHuRef
CHM1_1922,002,731 - 22,009,141 (-)NCBICHM1_1
T2T-CHM13v2.0922,017,276 - 22,023,690 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-acetamidofluorene  (ISO)
2-hydroxypropanoic acid  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP,ISO)
5-azacytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
antimonite  (EXP)
aristolochic acid A  (EXP)
arotinoid acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP)
auraptene  (EXP)
avobenzone  (EXP)
azathioprine  (EXP)
baicalein  (ISO)
benzene  (EXP)
benzene-1,2,4-triol  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-naphthoflavone  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
calciol  (ISO)
calcitriol  (EXP)
cannabidiol  (EXP,ISO)
cantharidin  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
cordycepin  (ISO)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
cylindrospermopsin  (EXP)
cypermethrin  (ISO)
daunorubicin  (EXP)
diallyl disulfide  (ISO)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dichlorine  (ISO)
dicyclanil  (ISO)
dimethylarsinic acid  (ISO)
dimethylarsinous acid  (EXP)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
disodium selenite  (EXP)
disulfiram  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (EXP,ISO)
Enterolactone  (EXP)
entinostat  (EXP)
fenbendazole  (ISO)
flavonoids  (ISO)
fluoxetine  (ISO)
folic acid  (ISO)
formaldehyde  (EXP,ISO)
fumonisin B1  (ISO)
furan  (ISO)
gefitinib  (EXP)
genistein  (EXP,ISO)
GW 3965  (EXP)
GW 4064  (EXP)
harmine  (EXP)
hydrogen peroxide  (EXP,ISO)
hydroxyurea  (ISO)
indole-3-methanol  (EXP)
lead diacetate  (ISO)
linalool  (EXP)
lithium chloride  (EXP)
manganese(II) chloride  (ISO)
mercury dichloride  (ISO)
methamphetamine  (ISO)
methylparaben  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
monobenzyl phthalate  (ISO)
Monobutylphthalate  (ISO)
monoethyl phthalate  (ISO)
monosodium L-glutamate  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel dichloride  (ISO)
ochratoxin A  (EXP)
okadaic acid  (EXP)
ozone  (ISO)
palbociclib  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
pentachlorophenol  (ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
pirinixic acid  (EXP,ISO)
prednisone  (EXP)
progesterone  (EXP)
quercetin  (EXP)
quercetin 3-O-beta-D-glucofuranoside  (ISO)
quercetin 3-O-beta-D-glucopyranoside  (ISO)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rifampicin  (EXP)
ritonavir  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sorafenib  (ISO)
sterigmatocystin  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP,ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tributylstannane  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (EXP)
urethane  (EXP,ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)
zinc dichloride  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IDA,IEA)
cytosol  (TAS)
nucleus  (IBA,IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal circulating aldosterone concentration  (IAGP)
Abnormal hair morphology  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of the lymphatic system  (IAGP)
Acute lymphoblastic leukemia  (IAGP)
Adrenocortical abnormality  (IAGP)
Adrenocortical carcinoma  (IAGP)
Amenorrhea  (IAGP)
Angiofibromas  (IAGP)
Anorexia  (IAGP)
Atypical absence status epilepticus  (IAGP)
Breast carcinoma  (IAGP)
Carcinoid tumor  (IAGP)
Coma  (IAGP)
Confetti-like hypopigmented macules  (IAGP)
Confusion  (IAGP)
Constipation  (IAGP)
Cranial nerve compression  (IAGP)
Decreased male libido  (IAGP)
Decreased vigilance  (IAGP)
Dehydration  (IAGP)
Depression  (IAGP)
Diarrhea  (IAGP)
Dry skin  (IAGP)
Duodenal ulcer  (IAGP)
Elevated circulating calcitonin concentration  (IAGP)
Elevated circulating growth hormone concentration  (IAGP)
Ependymoma  (IAGP)
Freckling  (IAGP)
Galactorrhea  (IAGP)
Gastroesophageal reflux  (IAGP)
Gingival fibromatosis  (IAGP)
Glucagonoma  (IAGP)
Goiter  (IAGP)
Headache  (IAGP)
Hematemesis  (IAGP)
Hypercalcemia  (IAGP)
Hypercalciuria  (IAGP)
Hypergastrinemia  (IAGP)
Hypertension  (IAGP)
Impairment of activities of daily living  (IAGP)
Impotence  (IAGP)
Increased circulating cortisol level  (IAGP)
Increased serum serotonin  (IAGP)
Increased susceptibility to fractures  (IAGP)
Insulinoma  (IAGP)
Intestinal carcinoid  (IAGP)
Large cafe-au-lait macules with irregular margins  (IAGP)
Lethargy  (IAGP)
Lymphoma  (IAGP)
Melanoma  (IAGP)
Melena  (IAGP)
Meningioma  (IAGP)
Multiple lipomas  (IAGP)
Nausea  (IAGP)
Neoplasm of the breast  (IAGP)
Neoplasm of the pancreas  (IAGP)
Neoplasm of the stomach  (IAGP)
Nephrolithiasis  (IAGP)
Nevus  (IAGP)
Osteolysis  (IAGP)
Pancreatic endocrine tumor  (IAGP)
Parathyroid carcinoma  (IAGP)
Parathyroid hyperplasia  (IAGP)
Peptic ulcer  (IAGP)
Pheochromocytoma  (IAGP)
Pituitary adenoma  (IAGP)
Pituitary corticotropic cell adenoma  (IAGP)
Pituitary gonadotropic cell adenoma  (IAGP)
Pituitary growth hormone cell adenoma  (IAGP)
Pituitary null cell adenoma  (IAGP)
Pituitary prolactin cell adenoma  (IAGP)
Pituitary thyrotropic cell adenoma  (IAGP)
Primary hypercortisolism  (IAGP)
Primary hyperparathyroidism  (IAGP)
Proportionate tall stature  (IAGP)
Pulmonary carcinoid tumor  (IAGP)
Reduced bone mineral density  (IAGP)
Retinopathy  (IAGP)
Schizophrenia  (IAGP)
Short attention span  (IAGP)
Shortened QT interval  (IAGP)
Thymoma  (IAGP)
Thyroid carcinoma  (IAGP)
Vomiting  (IAGP)
Weight loss  (IAGP)
Zollinger-Ellison syndrome  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Rearrangement and allelic imbalance on chromosome 5 leads to homozygous deletions in the CDKN2A/2B tumor suppressor gene region in rat endometrial cancer. Adamovic T, etal., Cancer Genet Cytogenet. 2008 Jul;184(1):9-21.
2. Evidence of a role for the INK4 family of cyclin-dependent kinase inhibitors in ovarian granulosa cell tumors. Arcellana-Panlilio MY, etal., Genes Chromosomes Cancer. 2002 Oct;35(2):176-81.
3. Allelic loss and promoter hypermethylation of the p15INK4b gene features in mouse radiation-induced lymphoid - but not myeloid - leukaemias. Cleary HJ, etal., Leukemia. 1999 Dec;13(12):2049-52.
4. Genetic investigation into the endophenotypic status of central corneal thickness and optic disc parameters in relation to open-angle glaucoma. Dimasi DP, etal., Am J Ophthalmol. 2012 Nov;154(5):833-842.e2. doi: 10.1016/j.ajo.2012.04.023. Epub 2012 Jul 27.
5. Cell cycle regulators in bladder cancer: relationship to schistosomiasis. Eissa S, etal., IUBMB Life. 2004 Sep;56(9):557-64.
6. The prognostic significance of p16(INK4a)/p14(ARF) locus deletion and MDM-2 protein expression in adult acute myelogenous leukemia. Faderl S, etal., Cancer. 2000 Nov 1;89(9):1976-82.
7. Senescence and apoptosis in carcinogenesis of cervical squamous carcinoma. Feng W, etal., Mod Pathol. 2007 Sep;20(9):961-6. Epub 2007 Jul 13.
8. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
9. Common genetic variants in the 9p21 region and their associations with multiple tumours. Gu F, etal., Br J Cancer. 2013 Apr 2;108(6):1378-86. doi: 10.1038/bjc.2013.7. Epub 2013 Jan 29.
10. CDKN2B, SLC19A3 and DLEC1 promoter methylation alterations in the bone marrow of patients with acute myeloid leukemia during chemotherapy. Hong Q, etal., Exp Ther Med. 2016 May;11(5):1901-1907. Epub 2016 Feb 19.
11. Homozygous deletion of CDKN2A/2B is a hallmark of iron-induced high-grade rat mesothelioma. Hu Q, etal., Lab Invest. 2010 Mar;90(3):360-73. doi: 10.1038/labinvest.2009.140. Epub 2010 Jan 11.
12. Hypermethylation of p16(INK4a) and p15(INK4b) genes in non-small cell lung cancer. Kurakawa E, etal., Int J Oncol. 2001 Aug;19(2):277-81.
13. CDKN2A-CDKN2B deletion defines an aggressive subset of cutaneous T-cell lymphoma. Laharanne E, etal., Mod Pathol. 2010 Apr;23(4):547-58. doi: 10.1038/modpathol.2009.196. Epub 2010 Jan 29.
14. p15(INK4b) in bladder carcinomas: decreased expression in superficial tumours. Le Frere-Belda MA, etal., Br J Cancer. 2001 Nov 16;85(10):1515-21.
15. Methylation and messenger RNA expression of p15INK4b but not p16INK4a are independent risk factors for ovarian cancer. Liu Z, etal., Clin Cancer Res. 2005 Jul 1;11(13):4968-76.
16. Immunohistochemical determination of the P15 protein expression in cutaneous squamous cell carcinoma. Moad AI, etal., J Cutan Pathol. 2009 Feb;36(2):183-9. doi: 10.1111/j.1600-0560.2008.00989.x. Epub 2008 Jun 17.
17. Selective loss of resistant alleles at p15(INK4B) and p16(INK4A) genes in chemically-induced rat tongue cancers. Ogawa K, etal., Oral Oncol. 2006 Mar 7;.
18. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
19. CDKN2B methylation status and isolated chromosome 7 abnormalities predict responses to treatment with 5-azacytidine. Raj K, etal., Leukemia. 2007 Sep;21(9):1937-44. Epub 2007 Jul 5.
20. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
21. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
22. Epigenetic alterations of p15(INK4B) and p16(INK4A) genes in pediatric primary myelodysplastic syndrome. Rodrigues EF, etal., Leuk Lymphoma. 2010 Oct;51(10):1887-94. doi: 10.3109/10428194.2010.505820.
23. Expression and regulation of G1 cell-cycle inhibitors (p16INK4A, p15INK4B, p18INK4C, p19INK4D) in human acute myeloid leukemia and normal myeloid cells. Schwaller J, etal., Leukemia. 1997 Jan;11(1):54-63.
24. The Pezcoller lecture: cancer cell cycles revisited. Sherr CJ Cancer Res. 2000 Jul 15;60(14):3689-95.
25. Methylation of p15(INK4b) and E-cadherin genes is independently correlated with poor prognosis in acute myeloid leukemia. Shimamoto T, etal., Leuk Res. 2005 Jun;29(6):653-9. Epub 2005 Jan 19.
26. High incidence of allelic loss on chromosome 5 and inactivation of p15INK4B and p16INK4A tumor suppressor genes in oxystress-induced renal cell carcinoma of rats. Tanaka T, etal., Oncogene. 1999 Jun 24;18(25):3793-7.
27. Hypermethylation of GpG islands in the promoter region of p15(INK4b) in acute promyelocytic leukemia represses p15(INK4b) expression and correlates with poor prognosis. Teofili L, etal., Leukemia. 2003 May;17(5):919-24.
28. Aberrant methylation and impaired expression of the p15(INK4b) cell cycle regulatory gene in chronic myelomonocytic leukemia (CMML). Tessema M, etal., Leukemia. 2003 May;17(5):910-8.
29. Hypermethylation of the Ink4b locus in murine myeloid leukemia and increased susceptibility to leukemia in p15(Ink4b)-deficient mice. Wolff L, etal., Oncogene. 2003 Dec 18;22(58):9265-74.
30. Promoter methylation of P15(INK4B) gene is possibly associated with parvovirus B19 infection in adult acute leukemias. Yalcin A, etal., Int J Lab Hematol. 2009 Aug;31(4):407-19. doi: 10.1111/j.1751-553X.2008.01052.x. Epub 2008 Apr 1.
31. Molecular and immunohistochemical analysis of the prognostic value of cell-cycle regulators in urothelial neoplasms of the bladder. Yurakh AO, etal., Eur Urol. 2006 Sep;50(3):506-15; discussion 515. Epub 2006 Mar 31.
32. [Methylation of the genes in the 9P21 region in children with acute myeloid leukemia]. Zhang L, etal., Zhongguo Dang Dai Er Ke Za Zhi. 2015 Jan;17(1):6-10.
33. [p15(INK4B) methylation on prognosis and response to decitabine in patients with MDS]. Zhang Y, etal., Zhonghua Xue Ye Xue Za Zhi. 2013 Mar;34(3):237-41. doi: 10.3760/cma.j.issn.0253-2727.2013.03.013.
34. Expression of p14ARF, p15INK4b, p16INK4a, and DCR2 increases during prostate cancer progression. Zhang Z, etal., Mod Pathol. 2006 Oct;19(10):1339-43. Epub 2006 Jun 23.
Additional References at PubMed
PMID:7478582   PMID:7675459   PMID:7882351   PMID:7987828   PMID:8001816   PMID:8078588   PMID:8153634   PMID:9042862   PMID:9111314   PMID:9163429   PMID:9230210   PMID:10022865  
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PMID:19602701   PMID:19665068   PMID:19690970   PMID:19720844   PMID:19727727   PMID:19738611   PMID:19741166   PMID:19741467   PMID:19782398   PMID:19794065   PMID:19808892   PMID:19837270  
PMID:19847924   PMID:19862325   PMID:19892838   PMID:19913121   PMID:19933996   PMID:20043145   PMID:20075150   PMID:20161779   PMID:20190193   PMID:20203524   PMID:20215779   PMID:20231302  
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PMID:20694560   PMID:20712903   PMID:20716961   PMID:20738937   PMID:20802253   PMID:20816152   PMID:20847058   PMID:20858905   PMID:20862607   PMID:20864173   PMID:20879858   PMID:20889853  
PMID:20971364   PMID:20978019   PMID:21048031   PMID:21069533   PMID:21124069   PMID:21151178   PMID:21151960   PMID:21234743   PMID:21239051   PMID:21262917   PMID:21270820   PMID:21378990  
PMID:21414664   PMID:21427129   PMID:21531791   PMID:21573907   PMID:21626137   PMID:21638516   PMID:21757289   PMID:21832049   PMID:21873635   PMID:21889114   PMID:21900206   PMID:21920947  
PMID:21971053   PMID:21988832   PMID:22086844   PMID:22096510   PMID:22134481   PMID:22144573   PMID:22178423   PMID:22199011   PMID:22212460   PMID:22248274   PMID:22293688   PMID:22419738  
PMID:22560925   PMID:22581228   PMID:22619049   PMID:22623142   PMID:22643932   PMID:22706276   PMID:22761751   PMID:22772967   PMID:22961080   PMID:23065809   PMID:23091611   PMID:23104006  
PMID:23162013   PMID:23199516   PMID:23275143   PMID:23315372   PMID:23418593   PMID:23455922   PMID:23464438   PMID:23504555   PMID:23535729   PMID:23547836   PMID:23559091   PMID:23561647  
PMID:23571652   PMID:23580324   PMID:23602568   PMID:23715670   PMID:23718855   PMID:23770605   PMID:23945395   PMID:24012816   PMID:24093775   PMID:24103848   PMID:24302590   PMID:24356749  
PMID:24403052   PMID:24509480   PMID:24573017   PMID:24618291   PMID:24680834   PMID:24716938   PMID:24806561   PMID:24815848   PMID:24908414   PMID:24938701   PMID:24943834   PMID:24968695  
PMID:24981860   PMID:25129146   PMID:25187374   PMID:25239644   PMID:25241761   PMID:25308604   PMID:25382971   PMID:25416956   PMID:25550505   PMID:25573202   PMID:25663546   PMID:25674264  
PMID:25744911   PMID:25839936   PMID:25873077   PMID:25910212   PMID:25916116   PMID:25982567   PMID:25990668   PMID:26104880   PMID:26139146   PMID:26183406   PMID:26186194   PMID:26205624  
PMID:26333125   PMID:26362858   PMID:26387756   PMID:26408699   PMID:26470845   PMID:26496610   PMID:26501552   PMID:26577493   PMID:26578655   PMID:26596284   PMID:26782424   PMID:26839018  
PMID:26868379   PMID:26911146   PMID:27008632   PMID:27049325   PMID:27060304   PMID:27090891   PMID:27459612   PMID:27461581   PMID:27486979   PMID:27507036   PMID:27507052   PMID:27541204  
PMID:27622827   PMID:27773886   PMID:27855847   PMID:27905995   PMID:27960642   PMID:27989786   PMID:28052659   PMID:28065479   PMID:28079868   PMID:28205554   PMID:28214350   PMID:28214896  
PMID:28276595   PMID:28277544   PMID:28416752   PMID:28472212   PMID:28477716   PMID:28481918   PMID:28514442   PMID:28569791   PMID:28600574   PMID:28618933   PMID:28688373   PMID:28716248  
PMID:28760552   PMID:28784723   PMID:28870941   PMID:28892048   PMID:29063720   PMID:29105198   PMID:29194093   PMID:29261660   PMID:29265947   PMID:29270737   PMID:29343775   PMID:29348129  
PMID:29420051   PMID:29432124   PMID:29446543   PMID:29544538   PMID:29791233   PMID:29848569   PMID:29894795   PMID:30041662   PMID:30060056   PMID:30110629   PMID:30172749   PMID:30238987  
PMID:30558699   PMID:30635552   PMID:30656483   PMID:30666677   PMID:30722027   PMID:30774116   PMID:31189690   PMID:31270053   PMID:31297846   PMID:31299986   PMID:31305260   PMID:31366490  
PMID:31382782   PMID:31386834   PMID:31515488   PMID:31721021   PMID:31721206   PMID:31804579   PMID:31889028   PMID:32067956   PMID:32271419   PMID:32296183   PMID:32492046   PMID:32707033  
PMID:32862732   PMID:32879414   PMID:33009370   PMID:33285697   PMID:33397358   PMID:33534179   PMID:33664859   PMID:33824349   PMID:33900379   PMID:33961781   PMID:34076984   PMID:34098582  
PMID:34130294   PMID:34410056   PMID:34418317   PMID:34535262   PMID:34545083   PMID:34568836   PMID:34607836   PMID:35064215   PMID:35067100   PMID:35563774   PMID:35944360   PMID:35973817  
PMID:36008322   PMID:36097105   PMID:36261081   PMID:36400182   PMID:36841437   PMID:36879550   PMID:36961670   PMID:37261522   PMID:37314514   PMID:37482988   PMID:37845622   PMID:38265748  
PMID:38925973  


Genomics

Comparative Map Data
CDKN2B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38922,002,903 - 22,009,313 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl922,002,903 - 22,009,305 (-)EnsemblGRCh38hg38GRCh38
GRCh37922,002,902 - 22,009,312 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36921,992,902 - 21,999,312 (-)NCBINCBI36Build 36hg18NCBI36
Build 34921,992,902 - 21,999,312NCBI
Celera921,941,270 - 21,947,682 (-)NCBICelera
Cytogenetic Map9p21.3NCBI
HuRef921,966,171 - 21,972,582 (-)NCBIHuRef
CHM1_1922,002,731 - 22,009,141 (-)NCBICHM1_1
T2T-CHM13v2.0922,017,276 - 22,023,690 (-)NCBIT2T-CHM13v2.0
Cdkn2b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39489,224,526 - 89,229,269 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl489,224,536 - 89,229,276 (-)EnsemblGRCm39 Ensembl
GRCm38489,306,289 - 89,311,032 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl489,306,299 - 89,311,039 (-)EnsemblGRCm38mm10GRCm38
MGSCv37488,952,198 - 88,956,941 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36488,777,556 - 88,782,190 (-)NCBIMGSCv36mm8
Celera487,792,244 - 87,797,039 (-)NCBICelera
Cytogenetic Map4C4NCBI
cM Map442.15NCBI
Cdkn2b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85109,123,308 - 109,134,906 (-)NCBIGRCr8
GRCr8 Ensembl5109,114,322 - 109,134,855 (-)EnsemblGRCr8 Ensembl
mRatBN7.25104,009,839 - 104,019,082 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5104,010,680 - 104,019,050 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5106,447,506 - 106,453,182 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05108,177,120 - 108,182,796 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05108,257,644 - 108,263,335 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05107,834,353 - 107,857,428 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5107,845,951 - 107,858,104 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05111,817,188 - 111,826,334 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45108,939,669 - 108,945,293 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera5102,728,741 - 102,734,427 (-)NCBICelera
RGSC_v3.15108,946,492 - 108,950,551 (-)NCBI
Cytogenetic Map5q32NCBI
Cdkn2b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547212,275,544 - 12,280,528 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495547212,275,613 - 12,280,141 (+)NCBIChiLan1.0ChiLan1.0
CDKN2B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v211102,545,185 - 102,554,222 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan19102,550,897 - 102,560,167 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0921,838,902 - 21,845,355 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1922,455,662 - 22,462,156 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl922,455,662 - 22,462,156 (-)Ensemblpanpan1.1panPan2
CDKN2B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11141,259,627 - 41,264,832 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1139,933,406 - 39,936,568 (-)NCBIDog10K_Boxer_Tasha
Dog10K_Boxer_Tasha1139,895,530 - 39,924,805 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01142,165,720 - 42,207,150 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1142,165,719 - 42,206,773 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11140,873,681 - 40,876,835 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01140,723,758 - 40,752,953 (-)NCBIUNSW_CanFamBas_1.0
UNSW_CanFamBas_1.01140,761,542 - 40,764,705 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01141,374,892 - 41,378,057 (-)NCBIUU_Cfam_GSD_1.0
Cdkn2b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947155,907,481 - 155,911,659 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366523,538,986 - 3,581,159 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366523,576,975 - 3,582,790 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CDKN2B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1200,761,004 - 200,766,056 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11200,666,250 - 200,770,880 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21223,955,554 - 223,960,641 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CDKN2B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl1257,869,846 - 57,873,133 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Cdkn2b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473625,926,668 - 25,933,440 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473625,929,314 - 25,933,318 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CDKN2B
47 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p21.3(chr9:21708372-22537070)x3 copy number gain See cases [RCV000051050] Chr9:21708372..22537070 [GRCh38]
Chr9:21708371..22537069 [GRCh37]
Chr9:21698371..22527069 [NCBI36]
Chr9:9p21.3		 uncertain significance
GRCh38/hg38 9p21.3(chr9:21082471-23839529)x1 copy number loss See cases [RCV000052902] Chr9:21082471..23839529 [GRCh38]
Chr9:21082470..23839527 [GRCh37]
Chr9:21072470..23829527 [NCBI36]
Chr9:9p21.3		 pathogenic
GRCh38/hg38 9p21.3(chr9:21985058-22809677)x1 copy number loss See cases [RCV000052903] Chr9:21985058..22809677 [GRCh38]
Chr9:21985057..22809676 [GRCh37]
Chr9:21975057..22799676 [NCBI36]
Chr9:9p21.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 copy number gain See cases [RCV000053704] Chr9:204193..22086858 [GRCh38]
Chr9:204193..22086857 [GRCh37]
Chr9:194193..22076857 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 copy number gain See cases [RCV000134037] Chr9:220257..29424848 [GRCh38]
Chr9:220257..29424846 [GRCh37]
Chr9:210257..29414846 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3 copy number gain See cases [RCV000053749] Chr9:9543538..30266463 [GRCh38]
Chr9:9543538..30266461 [GRCh37]
Chr9:9533538..30256461 [NCBI36]
Chr9:9p23-21.1		 pathogenic
GRCh38/hg38 9p23-13.3(chr9:13526091-34261642)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|See cases [RCV000053750] Chr9:13526091..34261642 [GRCh38]
Chr9:13526090..34261640 [GRCh37]
Chr9:13516090..34251640 [NCBI36]
Chr9:9p23-13.3		 pathogenic
NM_004936.4(CDKN2B):c.157-102G>A single nucleotide variant Three Vessel Coronary Disease [RCV001003464]|not provided [RCV001615112] Chr9:22006349 [GRCh38]
Chr9:22006348 [GRCh37]
Chr9:9p21.3		 benign
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NC_000009.11:g.(?_21968228)_(22160087_?)dup duplication Familial melanoma [RCV001313155] Chr9:21968228..22160087 [GRCh37]
Chr9:9p21.3		 uncertain significance
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic|likely benign
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 copy number gain See cases [RCV000136680] Chr9:4661872..27661572 [GRCh38]
Chr9:4661872..27661570 [GRCh37]
Chr9:4651872..27651570 [NCBI36]
Chr9:9p24.1-21.2		 pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3 copy number gain See cases [RCV000138499] Chr9:459131..24207894 [GRCh38]
Chr9:459131..24207892 [GRCh37]
Chr9:449131..24197892 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 copy number gain See cases [RCV000139621] Chr9:204104..27963369 [GRCh38]
Chr9:204104..27963367 [GRCh37]
Chr9:194104..27953367 [NCBI36]
Chr9:9p24.3-21.2		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_004936.4(CDKN2B):c.256G>A (p.Asp86Asn) single nucleotide variant Multiple endocrine neoplasia [RCV005367344]|not provided [RCV000489052]|not specified [RCV002268125] Chr9:22006148 [GRCh38]
Chr9:22006147 [GRCh37]
Chr9:9p21.3		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p21.3(chr9:21608134-22490685)x3 copy number gain See cases [RCV000445730] Chr9:21608134..22490685 [GRCh37]
Chr9:9p21.3		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3 copy number gain not provided [RCV000748062] Chr9:46587..22012051 [GRCh37]
Chr9:9p24.3-21.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_004936.4(CDKN2B):c.157-27C>A single nucleotide variant not provided [RCV001690992] Chr9:22006274 [GRCh38]
Chr9:22006273 [GRCh37]
Chr9:9p21.3		 benign
NC_000009.12:g.22005331T>G single nucleotide variant Three Vessel Coronary Disease [RCV001003461] Chr9:22005331 [GRCh38]
Chr9:22005330 [GRCh37]
Chr9:9p21.3		 uncertain significance
GRCh37/hg19 9p21.3(chr9:20715401-22136489) copy number loss not provided [RCV000767562] Chr9:20715401..22136489 [GRCh37]
Chr9:9p21.3		 pathogenic
NC_000009.12:g.22009338G>T single nucleotide variant not provided [RCV001595167] Chr9:22009338 [GRCh38]
Chr9:22009337 [GRCh37]
Chr9:9p21.3		 benign
NM_004936.4(CDKN2B):c.252G>C (p.Val84=) single nucleotide variant not specified [RCV002466051] Chr9:22006152 [GRCh38]
Chr9:22006151 [GRCh37]
Chr9:9p21.3		 likely benign
NM_004936.4(CDKN2B):c.156+293T>A single nucleotide variant not provided [RCV001617187] Chr9:22008505 [GRCh38]
Chr9:22008504 [GRCh37]
Chr9:9p21.3		 benign
NC_000009.12:g.22003224C>T single nucleotide variant Three Vessel Coronary Disease [RCV001003465]|not provided [RCV004712956] Chr9:22003224 [GRCh38]
Chr9:22003223 [GRCh37]
Chr9:9p21.3		 benign
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NC_000009.11:g.(?_21968228)_(22160087_?)del deletion Familial melanoma [RCV001382627] Chr9:21968228..22160087 [GRCh37]
Chr9:9p21.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NM_004936.4(CDKN2B):c.149C>T (p.Ala50Val) single nucleotide variant not specified [RCV004164461] Chr9:22008805 [GRCh38]
Chr9:22008804 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_004936.4(CDKN2B):c.*845_*846insCA insertion Malignant tumor of breast [RCV003447433] Chr9:22005141..22005142 [GRCh38]
Chr9:22005140..22005141 [GRCh37]
Chr9:9p21.3		 likely pathogenic
NM_004936.4(CDKN2B):c.*1346dup duplication Malignant tumor of breast [RCV003447434] Chr9:22004640..22004641 [GRCh38]
Chr9:22004639..22004640 [GRCh37]
Chr9:9p21.3		 likely pathogenic
NM_004936.4(CDKN2B):c.*845_*846insCACA insertion Malignant tumor of breast [RCV003447432] Chr9:22005141..22005142 [GRCh38]
Chr9:22005140..22005141 [GRCh37]
Chr9:9p21.3		 likely pathogenic
NM_004936.4(CDKN2B):c.131A>G (p.Asn44Ser) single nucleotide variant Acute lymphoid leukemia [RCV003444130] Chr9:22008823 [GRCh38]
Chr9:22008822 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_004936.4(CDKN2B):c.*2763G>T single nucleotide variant Malignant tumor of breast [RCV003447435] Chr9:22003224 [GRCh38]
Chr9:22003223 [GRCh37]
Chr9:9p21.3		 likely pathogenic
NM_004936.4(CDKN2B):c.408G>C (p.Thr136=) single nucleotide variant not provided [RCV003435741] Chr9:22005996 [GRCh38]
Chr9:22005995 [GRCh37]
Chr9:9p21.3		 likely benign
NM_004936.4(CDKN2B):c.325_351del (p.Arg109_Val117del) deletion not specified [RCV003494344] Chr9:22006053..22006079 [GRCh38]
Chr9:22006052..22006078 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_004936.4(CDKN2B):c.*29C>A single nucleotide variant not specified [RCV004595963] Chr9:22005958 [GRCh38]
Chr9:22005957 [GRCh37]
Chr9:9p21.3		 likely benign
NM_004936.4(CDKN2B):c.161T>C (p.Met54Thr) single nucleotide variant not specified [RCV004896276] Chr9:22006243 [GRCh38]
Chr9:22006242 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_004936.4(CDKN2B):c.187G>A (p.Glu63Lys) single nucleotide variant not specified [RCV005312976] Chr9:22006217 [GRCh38]
Chr9:22006216 [GRCh37]
Chr9:9p21.3		 uncertain significance
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11		 pathogenic
GRCh38/hg38 9p22.1-21.1(chr9:19564275-28106622)x1 copy number loss See cases [RCV000139905] Chr9:19564275..28106622 [GRCh38]
Chr9:19564273..28106620 [GRCh37]
Chr9:19554273..28096620 [NCBI36]
Chr9:9p22.1-21.1		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 copy number gain See cases [RCV000141662] Chr9:203861..31423873 [GRCh38]
Chr9:203861..31423871 [GRCh37]
Chr9:193861..31413871 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p21.3(chr9:20951885-22447709)x1 copy number loss See cases [RCV000448195] Chr9:20951885..22447709 [GRCh37]
Chr9:9p21.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p22.2-21.1(chr9:17684434-30889762)x3 copy number gain See cases [RCV000510665] Chr9:17684434..30889762 [GRCh37]
Chr9:9p22.2-21.1		 pathogenic
GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3 copy number gain See cases [RCV000510425] Chr9:5900425..30008330 [GRCh37]
Chr9:9p24.1-21.1		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 copy number gain See cases [RCV000510986] Chr9:17132123..35567051 [GRCh37]
Chr9:9p22.2-13.3		 pathogenic
GRCh38/hg38 9p21.3(chr9:21879075-22096084)x0 copy number loss Vascular endothelial growth factor (VEGF) inhibitor response [RCV000626437] Chr9:21879075..22096084 [GRCh38]
Chr9:21879074..22096083 [GRCh37]
Chr9:9p21.3		 drug response
GRCh37/hg19 9p23-21.2(chr9:10320113-26205565)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626433] Chr9:10320113..26205565 [GRCh37]
Chr9:9p23-21.2		 drug response
GRCh38/hg38 9p21.3(chr9:21939409-22706614)x0 copy number loss Vascular endothelial growth factor (VEGF) inhibitor response [RCV000626440] Chr9:21939409..22706614 [GRCh38]
Chr9:21939408..22706613 [GRCh37]
Chr9:9p21.3		 drug response
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 copy number gain not provided [RCV000683171] Chr9:203861..26397133 [GRCh37]
Chr9:9p24.3-21.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
NM_004936.4(CDKN2B):c.*2619C>T single nucleotide variant Malignant tumor of breast [RCV003447314]|Three Vessel Coronary Disease [RCV001003457] Chr9:22003368 [GRCh38]
Chr9:22003367 [GRCh37]
Chr9:9p21.3		 likely pathogenic|protective|no classifications from unflagged records
Single allele duplication Schizophrenia [RCV000754362] Chr9:20655425..24580688 [GRCh38]
Chr9:9p21.3		 likely pathogenic
GRCh37/hg19 9p21.3(chr9:20834837-22101120)x1 copy number loss not provided [RCV000748288] Chr9:20834837..22101120 [GRCh37]
Chr9:9p21.3		 pathogenic
GRCh37/hg19 9p24.2-21.3(chr9:4420767-22195820)x3 copy number gain not provided [RCV000748122] Chr9:4420767..22195820 [GRCh37]
Chr9:9p24.2-21.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p21.3(chr9:21936290-22082568)x3 copy number gain not provided [RCV001006226] Chr9:21936290..22082568 [GRCh37]
Chr9:9p21.3		 uncertain significance
GRCh37/hg19 9p21.3(chr9:20829681-22069144)x3 copy number gain not provided [RCV001006222] Chr9:20829681..22069144 [GRCh37]
Chr9:9p21.3		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_004936.4(CDKN2B):c.48G>C (p.Glu16Asp) single nucleotide variant not specified [RCV004332521] Chr9:22008906 [GRCh38]
Chr9:22008905 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_004936.4(CDKN2B):c.156+10G>A single nucleotide variant not provided [RCV000930612] Chr9:22008788 [GRCh38]
Chr9:22008787 [GRCh37]
Chr9:9p21.3		 likely benign
NM_004936.4(CDKN2B):c.360C>T (p.Ala120=) single nucleotide variant not provided [RCV000973430] Chr9:22006044 [GRCh38]
Chr9:22006043 [GRCh37]
Chr9:9p21.3		 benign
NM_004936.4(CDKN2B):c.401C>G (p.Thr134Arg) single nucleotide variant not specified [RCV002466050] Chr9:22006003 [GRCh38]
Chr9:22006002 [GRCh37]
Chr9:9p21.3		 uncertain significance
GRCh37/hg19 9p21.3(chr9:20659492-22347440)x3 copy number gain not provided [RCV002473498] Chr9:20659492..22347440 [GRCh37]
Chr9:9p21.3		 uncertain significance
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p21.3(chr9:21391297-23423892)x3 copy number gain not provided [RCV001259527] Chr9:21391297..23423892 [GRCh37]
Chr9:9p21.3		 uncertain significance
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
GRCh37/hg19 9p21.3-21.1(chr9:22003967-30712948) copy number loss not specified [RCV002053848] Chr9:22003967..30712948 [GRCh37]
Chr9:9p21.3-21.1		 uncertain significance
GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670) copy number gain not specified [RCV002053827] Chr9:676264..33743670 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p21.3(chr9:21608134-22490685) copy number gain not specified [RCV002053845] Chr9:21608134..22490685 [GRCh37]
Chr9:9p21.3		 uncertain significance
GRCh37/hg19 9p21.3(chr9:21902071-22015434) copy number loss not specified [RCV002053846] Chr9:21902071..22015434 [GRCh37]
Chr9:9p21.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
NC_000009.11:g.(?_21994128)_(22160087_?)dup duplication Familial melanoma [RCV001971909] Chr9:21994128..22160087 [GRCh37]
Chr9:9p21.3		 uncertain significance
NC_000009.11:g.(?_21970891)_(22062134_?)dup duplication Familial melanoma [RCV001979155] Chr9:21970891..22062134 [GRCh37]
Chr9:9p21.3		 uncertain significance
NC_000009.11:g.(?_21974667)_(22160087_?)dup duplication Familial melanoma [RCV003119261] Chr9:21974667..22160087 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_004936.4(CDKN2B):c.156+18G>T single nucleotide variant not specified [RCV002268738] Chr9:22008780 [GRCh38]
Chr9:22008779 [GRCh37]
Chr9:9p21.3		 likely benign
NM_004936.4(CDKN2B):c.*43C>G single nucleotide variant not specified [RCV002268737] Chr9:22005944 [GRCh38]
Chr9:22005943 [GRCh37]
Chr9:9p21.3		 likely benign
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1		 likely pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
NM_004936.4(CDKN2B):c.-4C>T single nucleotide variant not specified [RCV002268739] Chr9:22008957 [GRCh38]
Chr9:22008956 [GRCh37]
Chr9:9p21.3		 likely benign
NM_004936.4(CDKN2B):c.209_210del (p.Ala70fs) microsatellite not provided [RCV003307378] Chr9:22006194..22006195 [GRCh38]
Chr9:22006193..22006194 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_004936.4(CDKN2B):c.34G>A (p.Gly12Ser) single nucleotide variant not specified [RCV004234166] Chr9:22008920 [GRCh38]
Chr9:22008919 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_004936.4(CDKN2B):c.367C>T (p.Arg123Trp) single nucleotide variant not specified [RCV004146588] Chr9:22006037 [GRCh38]
Chr9:22006036 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_004936.4(CDKN2B):c.122A>G (p.Asn41Ser) single nucleotide variant not specified [RCV004069561] Chr9:22008832 [GRCh38]
Chr9:22008831 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_004936.4(CDKN2B):c.29G>T (p.Ser10Ile) single nucleotide variant not specified [RCV003322561] Chr9:22008925 [GRCh38]
Chr9:22008924 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_004936.4(CDKN2B):c.71G>A (p.Arg24Gln) single nucleotide variant not specified [RCV003322560] Chr9:22008883 [GRCh38]
Chr9:22008882 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_004936.4(CDKN2B):c.343C>T (p.Leu115=) single nucleotide variant not specified [RCV003322557] Chr9:22006061 [GRCh38]
Chr9:22006060 [GRCh37]
Chr9:9p21.3		 likely benign
NM_004936.4(CDKN2B):c.155A>G (p.Gln52Arg) single nucleotide variant not specified [RCV003322559] Chr9:22008799 [GRCh38]
Chr9:22008798 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_004936.4(CDKN2B):c.156+22C>T single nucleotide variant not specified [RCV003322558] Chr9:22008776 [GRCh38]
Chr9:22008775 [GRCh37]
Chr9:9p21.3		 likely benign
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_004936.4(CDKN2B):c.121A>G (p.Asn41Asp) single nucleotide variant not provided [RCV003435742] Chr9:22008833 [GRCh38]
Chr9:22008832 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_004936.4(CDKN2B):c.353A>C (p.Asp118Ala) single nucleotide variant not specified [RCV004431003] Chr9:22006051 [GRCh38]
Chr9:22006050 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_004936.4(CDKN2B):c.386C>G (p.Ala129Gly) single nucleotide variant not specified [RCV004431004] Chr9:22006018 [GRCh38]
Chr9:22006017 [GRCh37]
Chr9:9p21.3		 uncertain significance
NC_000009.11:g.(?_21333005)_(22160087_?)dup duplication not provided [RCV004582134] Chr9:21333005..22160087 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_004936.4(CDKN2B):c.176C>T (p.Ala59Val) single nucleotide variant not specified [RCV004612366] Chr9:22006228 [GRCh38]
Chr9:22006227 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_004936.4(CDKN2B):c.156+3_156+6del deletion not specified [RCV004595965] Chr9:22008792..22008795 [GRCh38]
Chr9:22008791..22008794 [GRCh37]
Chr9:9p21.3		 likely benign
NM_004936.4(CDKN2B):c.156+9G>A single nucleotide variant not specified [RCV004595964] Chr9:22008789 [GRCh38]
Chr9:22008788 [GRCh37]
Chr9:9p21.3		 likely benign
NM_004936.4(CDKN2B):c.155A>C (p.Gln52Pro) single nucleotide variant not specified [RCV004595966] Chr9:22008799 [GRCh38]
Chr9:22008798 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_004936.4(CDKN2B):c.68C>T (p.Ala23Val) single nucleotide variant not specified [RCV004896278] Chr9:22008886 [GRCh38]
Chr9:22008885 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_004936.4(CDKN2B):c.174C>A (p.Ser58Arg) single nucleotide variant not specified [RCV004896279] Chr9:22006230 [GRCh38]
Chr9:22006229 [GRCh37]
Chr9:9p21.3		 uncertain significance
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR374Bhsa-miR-374b-5pMirtarbaseexternal_infoSequencingFunctional MTI (Weak)20371350

Predicted Target Of
Summary Value
Count of predictions:2268
Count of miRNA genes:938
Interacting mature miRNAs:1108
Transcripts:ENST00000276925, ENST00000380142, ENST00000539462, ENST00000579591
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597024693GWAS1120767_Hnasopharyngeal neoplasm QTL GWAS1120767 (human)0.0000008nasopharyngeal neoplasm92200336822003369Human
597413147GWAS1509221_Hbreast carcinoma QTL GWAS1509221 (human)6e-09mammary gland integrity trait (VT:0010552)92200634922006350Human
597070771GWAS1166845_Hpsychosis predisposition measurement QTL GWAS1166845 (human)0.000004psychosis predisposition measurement92200322422003225Human
1357299AASTH47_HAllergic/atopic asthma related QTL 47 (human)0.00028Reversible airflow obstruction9528914931289149Human
597215184GWAS1311258_Hprostate carcinoma, type 2 diabetes mellitus QTL GWAS1311258 (human)8e-09prostate integrity trait (VT:0010571)92200322422003225Human
597076735GWAS1172809_Hacute lymphoblastic leukemia QTL GWAS1172809 (human)4e-09leukocyte integrity trait (VT:0010898)92200627422006275Human
406901261GWAS550237_Hopen-angle glaucoma QTL GWAS550237 (human)5e-11eye integrity trait (VT:0011107)92200336822003369Human
597264692GWAS1360766_Hcup-to-disc ratio measurement QTL GWAS1360766 (human)3e-09optic disc morphology trait (VT:0006215)92200733122007332Human
1643245BW137_HBody weight QTL 137 (human)2.28Body weight9528914931289149Human
597045443GWAS1141517_Hcutaneous melanoma QTL GWAS1141517 (human)4e-22cutaneous melanoma92200533122005332Human
2302773MAMTS18_HMammary tumor susceptibility QTL 18 (human)0.039Mammary tumor susceptibility9528914931289149Human
597207310GWAS1303384_Htype 2 diabetes mellitus QTL GWAS1303384 (human)3e-18type 2 diabetes mellitus92200336822003369Human
597323202GWAS1419276_Hcup-to-disc ratio measurement QTL GWAS1419276 (human)3e-08optic disc morphology trait (VT:0006215)92200733122007332Human
2315898GLUCO191_HGlucose level QTL 191 (human)1.83Glucose level9528914931289149Human
2293400PRSTS224_HProstate tumor susceptibility QTL 224 (human)1.62Prostate tumor susceptibility9528914931289149Human
2293433PRSTS223_HProstate tumor susceptibility QTL 223 (human)1.6Prostate tumor susceptibility9528914931289149Human
597073450GWAS1169524_Hcoronary artery disease QTL GWAS1169524 (human)2e-10coronary artery integrity trait (VT:0010746)92200733122007332Human
597305668GWAS1401742_Hbreast cancer, lung cancer QTL GWAS1401742 (human)2e-21breast cancer, lung cancer92200322422003225Human
597070761GWAS1166835_Hpsychosis predisposition measurement QTL GWAS1166835 (human)0.0000007psychosis predisposition measurement92200322422003225Human

Markers in Region
D9S958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37922,004,965 - 22,005,259UniSTSGRCh37
Build 36921,994,965 - 21,995,259RGDNCBI36
Celera921,943,333 - 21,943,629RGD
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map9p21UniSTS
HuRef921,968,234 - 21,968,530UniSTS
D9S1605  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37922,005,080 - 22,005,187UniSTSGRCh37
Build 36921,995,080 - 21,995,187RGDNCBI36
Celera921,943,448 - 21,943,557RGD
Cytogenetic Map9p21UniSTS
Cytogenetic Map9p21.3UniSTS
HuRef921,968,349 - 21,968,458UniSTS
D9S1752  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37922,005,080 - 22,005,210UniSTSGRCh37
Build 36921,995,080 - 21,995,210RGDNCBI36
Celera921,943,448 - 21,943,580RGD
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map9p21UniSTS
HuRef921,968,349 - 21,968,481UniSTS
GDB:626109  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37922,006,045 - 22,006,191UniSTSGRCh37
GRCh37921,971,006 - 21,971,152UniSTSGRCh37
Build 36921,961,006 - 21,961,152RGDNCBI36
Celera921,944,415 - 21,944,561UniSTS
Celera921,909,358 - 21,909,504RGD
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map9p21UniSTS
HuRef921,969,316 - 21,969,462UniSTS
HuRef921,934,224 - 21,934,370UniSTS
GDB:679533  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37922,008,705 - 22,009,019UniSTSGRCh37
Build 36921,998,705 - 21,999,019RGDNCBI36
Celera921,947,075 - 21,947,389RGD
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map9p21UniSTS
HuRef921,971,975 - 21,972,289UniSTS
GDB:679534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37922,005,920 - 22,006,306UniSTSGRCh37
Build 36921,995,920 - 21,996,306RGDNCBI36
Celera921,944,290 - 21,944,676RGD
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map9p21UniSTS
HuRef921,969,191 - 21,969,577UniSTS
PMC108944P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37922,008,801 - 22,008,949UniSTSGRCh37
Build 36921,998,801 - 21,998,949RGDNCBI36
Celera921,947,171 - 21,947,319RGD
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map9p21UniSTS
HuRef921,972,071 - 21,972,219UniSTS
STS-N34320  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37922,002,939 - 22,003,102UniSTSGRCh37
Build 36921,992,939 - 21,993,102RGDNCBI36
Celera921,941,307 - 21,941,470RGD
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map9p21UniSTS
HuRef921,966,208 - 21,966,371UniSTS
GeneMap99-GB4 RH Map969.52UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2427 2788 2242 4913 1717 2274 6 622 1801 461 2252 7122 6313 32 3689 1 829 1727 1543 171 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_078487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF004819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF058758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF488409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF488410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF488411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF488731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF513858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ844637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL449423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI560960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR536529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ694046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ694047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ694048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX391994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L36844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC750299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC752791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC770965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC770966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S69805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S75756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U17075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000276925   ⟹   ENSP00000276925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl922,002,903 - 22,009,305 (-)Ensembl
Ensembl Acc Id: ENST00000380142   ⟹   ENSP00000369487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl922,004,748 - 22,009,272 (-)Ensembl
Ensembl Acc Id: ENST00000579591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl922,005,203 - 22,006,271 (-)Ensembl
RefSeq Acc Id: NM_004936   ⟹   NP_004927
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38922,002,903 - 22,009,305 (-)NCBI
GRCh37922,002,902 - 22,009,312 (-)ENTREZGENE
Build 36921,992,902 - 21,999,312 (-)NCBI Archive
HuRef921,966,171 - 21,972,582 (-)ENTREZGENE
CHM1_1922,002,731 - 22,009,141 (-)NCBI
T2T-CHM13v2.0922,017,276 - 22,023,682 (-)NCBI
Sequence:
RefSeq Acc Id: NM_078487   ⟹   NP_511042
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38922,002,903 - 22,009,313 (-)NCBI
GRCh37922,002,902 - 22,009,312 (-)ENTREZGENE
Build 36921,992,902 - 21,999,312 (-)NCBI Archive
HuRef921,966,171 - 21,972,582 (-)ENTREZGENE
CHM1_1922,002,731 - 22,009,141 (-)NCBI
T2T-CHM13v2.0922,017,276 - 22,023,690 (-)NCBI
Sequence:
RefSeq Acc Id: NP_004927   ⟸   NM_004936
- Peptide Label: isoform 1
- UniProtKB: O15125 (UniProtKB/Swiss-Prot),   Q6FI09 (UniProtKB/Swiss-Prot),   P42772 (UniProtKB/Swiss-Prot),   K7PPU3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_511042   ⟸   NM_078487
- Peptide Label: isoform 2
- UniProtKB: Q5ZEY8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000276925   ⟸   ENST00000276925
Ensembl Acc Id: ENSP00000369487   ⟸   ENST00000380142

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P42772-F1-model_v2 AlphaFold P42772 1-138 view protein structure

Promoters
RGD ID:6813595
Promoter ID:HG_ACW:79958
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:CDKN2B.CAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36921,995,291 - 21,996,142 (-)MPROMDB
RGD ID:6807379
Promoter ID:HG_KWN:62798
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_004936,   NM_078487,   UC010MIY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36921,998,756 - 21,999,552 (-)MPROMDB
RGD ID:7214795
Promoter ID:EPDNEW_H13143
Type:initiation region
Name:CDKN2B_1
Description:cyclin dependent kinase inhibitor 2B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38922,009,305 - 22,009,365EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1788 AgrOrtholog
COSMIC CDKN2B COSMIC
Ensembl Genes ENSG00000147883 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000276925 ENTREZGENE
  ENST00000276925.7 UniProtKB/Swiss-Prot
  ENST00000380142 ENTREZGENE
  ENST00000380142.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot
GTEx ENSG00000147883 GTEx
HGNC ID HGNC:1788 ENTREZGENE
Human Proteome Map CDKN2B Human Proteome Map
InterPro Ank_Repeat/CDKN_Inhibitor UniProtKB/Swiss-Prot
  Ankyrin_rpt UniProtKB/Swiss-Prot
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot
KEGG Report hsa:1030 UniProtKB/Swiss-Prot
NCBI Gene 1030 ENTREZGENE
OMIM 600431 OMIM
PANTHER ANK_REP_REGION DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot
  CYCLIN-DEPENDENT KINASE 4 INHIBITOR B UniProtKB/Swiss-Prot
Pfam Ank_2 UniProtKB/Swiss-Prot
PharmGKB PA26321 PharmGKB
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot
UniProt CDN2B_HUMAN UniProtKB/Swiss-Prot
  K7PPU3 ENTREZGENE, UniProtKB/TrEMBL
  O15125 ENTREZGENE
  P42772 ENTREZGENE
  Q5ZEY8 ENTREZGENE, UniProtKB/TrEMBL
  Q6FI09 ENTREZGENE
  Q8NIA6_HUMAN UniProtKB/TrEMBL
UniProt Secondary O15125 UniProtKB/Swiss-Prot
  Q6FI09 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-21 CDKN2B  cyclin dependent kinase inhibitor 2B  CDKN2B  cyclin-dependent kinase inhibitor 2B  Symbol and/or name change 5135510 APPROVED
2016-02-29 CDKN2B  cyclin-dependent kinase inhibitor 2B  CDKN2B  cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)  Symbol and/or name change 5135510 APPROVED