Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 100048912
Gene Summary     SNPs            KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol CDKN2B-AS1   Gene   UCSC   Ensembl
Aliases ANRIL, CDKN2B-AS, CDKN2BAS, NCRNA00089, PCAT12, p15AS
Gene name CDKN2B antisense RNA 1
Alternate names CDKN2B antisense RNA 1 (non-protein coding), antisense noncoding RNA in the INK4 locus, p15 antisense RNA, prostate cancer associated transcript 12,
Gene location 9p21.3 (21994790: 22121096)     Exons: 21     NC_000009.12
Gene summary(Entrez) This gene is located within the CDKN2B-CDKN2A gene cluster at chromosome 9p21. The gene product is a functional RNA molecule that interacts with polycomb repressive complex-1 (PRC1) and -2 (PRC2), leading to epigenetic silencing of other genes in this cluster. This region is a significant genetic susceptibility locus for cardiovascular disease, and has also been linked to a number of other pathologies, including several cancers, intracranial aneurysm, type-2 diabetes, periodontitis, Alzheimer's disease, endometriosis, frailty in the elderly, and glaucoma. Multiple alternatively processed transcript variants have been detected, some of which may take the form of circular RNA molecules (PMID:21151960). [provided by RefSeq, May 2014]
OMIM 613149

SNPs

rs10757269

Strand:    Allele origin:   Allele change: A/C/G   Mutation type: snp

CM000671.2   g.22072265A>C
CM000671.2   g.22072265A>G
NC_000009.11   g.22072264A>G
NC_000009.12   g.22072265A>C
NC_000009.12   g.22072265A>G
NR_003529.3   n.2448+5912A>C
NR_003529.3   n.2448+5912A>G
NR_047532.1   n.1075+15878A>C
NR_047532.1   n.1075+15878A>G
NR_047533.1   n.645-5414A>C
NR_047533.1   n.645-5414A>G
NR_047534.1   n.644+23037A>C
NR_047534.1   n.644+23037A>G
NR_047535.1   n.780+15878A>C
NR_047535.1   n.780+15878A>G
NR_047536.1   n.644+23037A>C
NR_047536.1   n.644+23037A>G
NR_047537.1   n.780+15878A>C
NR_047537.1   n.780+15878A>G
NR_047538.1   n.644+23037A>C
NR_047538.1   n.644+23037A>G
NR_047539.1   n.2449-5414A>C
NR_047539.1   n.2449-5414A>G
NR_047540.1   n.1049-5414A>C
NR_047540.1   n.1049-5414A>G
NR_047541.1   n.856-5414A>C
NR_047541.1   n.856-5414A>G
NR_047542.1   n.781-5414A>C
NR_047542.1   n.781-5414A>G
NR_047543.1   n.780+15878A>C
NR_047543.1   n.780+15878A>G
NR_120536.1   n.644+23037A>C
NR_120536.1   n.644+23037A>G
rs10757272

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000671.2   g.22088261C>T
NC_000009.11   g.22088260C>T
NC_000009.12   g.22088261C>T
NR_003529.3   n.2449-8111C>T
NR_047532.1   n.1076-4047C>T
NR_047534.1   n.645-8997C>T
NR_047535.1   n.781-24059C>T
NR_047536.1   n.645-24059C>T
NR_047537.1   n.780+31874C>T
NR_047538.1   n.645-31939C>T
NR_047543.1   n.781-24059C>T
NR_120536.1   n.645-32243C>T
rs10965215

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000671.2   g.22029446G>A
NC_000009.11   g.22029445G>A
NC_000009.12   g.22029446G>A
NR_003529.3   n.385G>A
NR_047532.1   n.385G>A
NR_047533.1   n.372-17305G>A
NR_047534.1   n.372-17305G>A
NR_047535.1   n.372-17305G>A
NR_047536.1   n.372-17305G>A
NR_047537.1   n.372-17305G>A
NR_047538.1   n.372-17305G>A
NR_047539.1   n.385G>A
NR_047540.1   n.372-17305G>A
NR_047541.1   n.372-17305G>A
NR_047542.1   n.372-17305G>A
NR_047543.1   n.372-17305G>A
NR_120536.1   n.372-17305G>A
rs10965235

Strand:    Allele origin:   Allele change: A/C   Mutation type: snp

CM000671.2   g.22115106C>A
NC_000009.11   g.22115105C>A
NC_000009.12   g.22115106C>A
NR_003529.3   n.2908+1307C>A
NR_047532.1   n.1697+1307C>A
NR_047534.1   n.961+1307C>A
NR_047535.1   n.856+2711C>A
NR_047536.1   n.720+2711C>A
NR_047537.1   n.781-5094C>A
NR_047538.1   n.645-5094C>A
NR_047543.1   n.990+1307C>A
NR_120536.1   n.645-5398C>A
rs1333042

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000671.2   g.22103814A>G
NC_000009.11   g.22103813A>G
NC_000009.12   g.22103814A>G
NR_003529.3   n.2698+6450A>G
NR_047532.1   n.1487+6450A>G
NR_047534.1   n.751+6450A>G
NR_047535.1   n.781-8506A>G
NR_047536.1   n.645-8506A>G
NR_047537.1   n.781-16386A>G
NR_047538.1   n.645-16386A>G
NR_047543.1   n.781-8506A>G
NR_120536.1   n.645-16690A>G
rs1537370

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000671.2   g.22084311C>T
NC_000009.11   g.22084310C>T
NC_000009.12   g.22084311C>T
NR_003529.3   n.2449-12061C>T
NR_047532.1   n.1076-7997C>T
NR_047534.1   n.645-12947C>T
NR_047535.1   n.780+27924C>T
NR_047536.1   n.645-28009C>T
NR_047537.1   n.780+27924C>T
NR_047538.1   n.644+35083C>T
NR_047543.1   n.780+27924C>T
NR_120536.1   n.644+35083C>T
rs17761446

Strand:    Allele origin:   Allele change: G/T   Mutation type: snp

CM000671.2   g.22118103T>G
NC_000009.11   g.22118102T>G
NC_000009.12   g.22118103T>G
NR_003529.3   n.2909-541T>G
NR_047532.1   n.1698-541T>G
NR_047534.1   n.962-541T>G
NR_047535.1   n.857-541T>G
NR_047536.1   n.721-541T>G
NR_047537.1   n.781-2097T>G
NR_047538.1   n.645-2097T>G
NR_047543.1   n.991-541T>G
NR_120536.1   n.645-2401T>G
rs17834457

Strand:    Allele origin:   Allele change: C/G/T   Mutation type: snp

CM000671.2   g.22118027C>G
CM000671.2   g.22118027C>T
NC_000009.11   g.22118026C>T
NC_000009.12   g.22118027C>G
NC_000009.12   g.22118027C>T
NR_003529.3   n.2909-617C>G
NR_003529.3   n.2909-617C>T
NR_047532.1   n.1698-617C>G
NR_047532.1   n.1698-617C>T
NR_047534.1   n.962-617C>G
NR_047534.1   n.962-617C>T
NR_047535.1   n.857-617C>G
NR_047535.1   n.857-617C>T
NR_047536.1   n.721-617C>G
NR_047536.1   n.721-617C>T
NR_047537.1   n.781-2173C>G
NR_047537.1   n.781-2173C>T
NR_047538.1   n.645-2173C>G
NR_047538.1   n.645-2173C>T
NR_047543.1   n.991-617C>G
NR_047543.1   n.991-617C>T
NR_120536.1   n.645-2477C>G
NR_120536.1   n.645-2477C>T
rs2157719

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000671.2   g.22033367C>T
NC_000009.11   g.22033366C>T
NC_000009.12   g.22033367C>T
NR_003529.3   n.846+381C>T
NR_047532.1   n.533+3773C>T
NR_047533.1   n.372-13384C>T
NR_047534.1   n.372-13384C>T
NR_047535.1   n.372-13384C>T
NR_047536.1   n.372-13384C>T
NR_047537.1   n.372-13384C>T
NR_047538.1   n.372-13384C>T
NR_047539.1   n.846+381C>T
NR_047540.1   n.372-13384C>T
NR_047541.1   n.372-13384C>T
NR_047542.1   n.372-13384C>T
NR_047543.1   n.372-13384C>T
NR_120536.1   n.372-13384C>T
rs2383206

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000671.2   g.22115027A>G
NC_000009.11   g.22115026A>G
NC_000009.12   g.22115027A>G
NR_003529.3   n.2908+1228A>G
NR_047532.1   n.1697+1228A>G
NR_047534.1   n.961+1228A>G
NR_047535.1   n.856+2632A>G
NR_047536.1   n.720+2632A>G
NR_047537.1   n.781-5173A>G
NR_047538.1   n.645-5173A>G
NR_047543.1   n.990+1228A>G
NR_120536.1   n.645-5477A>G
rs4977756

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000671.2   g.22068653G>A
NC_000009.11   g.22068652G>A
NC_000009.12   g.22068653G>A
NR_003529.3   n.2448+2300G>A
NR_047532.1   n.1075+12266G>A
NR_047533.1   n.645-9026G>A
NR_047534.1   n.644+19425G>A
NR_047535.1   n.780+12266G>A
NR_047536.1   n.644+19425G>A
NR_047537.1   n.780+12266G>A
NR_047538.1   n.644+19425G>A
NR_047539.1   n.2448+2300G>A
NR_047540.1   n.1048+2300G>A
NR_047541.1   n.855+4635G>A
NR_047542.1   n.781-9026G>A
NR_047543.1   n.780+12266G>A
NR_120536.1   n.644+19425G>A
rs6475606

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000671.2   g.22081851C>T
NC_000009.11   g.22081850C>T
NC_000009.12   g.22081851C>T
NR_003529.3   n.2449-14521C>T
NR_047532.1   n.1076-10457C>T
NR_047534.1   n.645-15407C>T
NR_047535.1   n.780+25464C>T
NR_047536.1   n.645-30469C>T
NR_047537.1   n.780+25464C>T
NR_047538.1   n.644+32623C>T
NR_047543.1   n.780+25464C>T
NR_120536.1   n.644+32623C>T
rs7865618

Strand:    Allele origin:   Allele change: A/G/T   Mutation type: snp

CM000671.2   g.22031006G>A
CM000671.2   g.22031006G>T
NC_000009.11   g.22031005G>A
NC_000009.12   g.22031006G>A
NC_000009.12   g.22031006G>T
NR_003529.3   n.533+1412G>A
NR_003529.3   n.533+1412G>T
NR_047532.1   n.533+1412G>A
NR_047532.1   n.533+1412G>T
NR_047533.1   n.372-15745G>A
NR_047533.1   n.372-15745G>T
NR_047534.1   n.372-15745G>A
NR_047534.1   n.372-15745G>T
NR_047535.1   n.372-15745G>A
NR_047535.1   n.372-15745G>T
NR_047536.1   n.372-15745G>A
NR_047536.1   n.372-15745G>T
NR_047537.1   n.372-15745G>A
NR_047537.1   n.372-15745G>T
NR_047538.1   n.372-15745G>A
NR_047538.1   n.372-15745G>T
NR_047539.1   n.533+1412G>A
NR_047539.1   n.533+1412G>T
NR_047540.1   n.372-15745G>A
NR_047540.1   n.372-15745G>T
NR_047541.1   n.372-15745G>A
NR_047541.1   n.372-15745G>T
NR_047542.1   n.372-15745G>A
NR_047542.1   n.372-15745G>T
NR_047543.1   n.372-15745G>A
NR_047543.1   n.372-15745G>T
NR_120536.1   n.372-15745G>A
NR_120536.1   n.372-15745G>T
rs944797

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000671.2   g.22115287T>C
NC_000009.11   g.22115286T>C
NC_000009.11   g.22115286T>G
NC_000009.12   g.22115287T>C
NR_003529.3   n.2908+1488T>C
NR_003529.3   n.2908+1488T>G
NR_047532.1   n.1697+1488T>C
NR_047532.1   n.1697+1488T>G
NR_047534.1   n.961+1488T>C
NR_047534.1   n.961+1488T>G
NR_047535.1   n.856+2892T>C
NR_047535.1   n.856+2892T>G
NR_047536.1   n.720+2892T>C
NR_047536.1   n.720+2892T>G
NR_047537.1   n.781-4913T>C
NR_047537.1   n.781-4913T>G
NR_047538.1   n.645-4913T>C
NR_047538.1   n.645-4913T>G
NR_047543.1   n.990+1488T>C
NR_047543.1   n.990+1488T>G
NR_120536.1   n.645-5217T>C
NR_120536.1   n.645-5217T>G

Diseases

Associated diseases References
Endometriosis PMID: 26337243
Endometriosis PMID: 27055116
Endometriosis INFBASE20601957

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
27055116 Endometrio
sis
rs17761446, rs10965235 Japanes
e
48 patients wit
h endometriosis
TCF7L2
EP300
ANRIL
Show abstract
26337243 Endometrio
sis
rs7521902, rs13394619, rs4141819, rs6542095, rs1519761, rs7739264, rs12700667, rs1537377, and rs10859871 Belgian
, Europ
ean
1977 (1077 endo
metriosis cases
, 900 controls)
CDKN2BAS
GREB1
Show abstract
24642913 Endometrio
sis
rs1333049
4 (3 sisters an
d their mother
suffering from
endometriosis)
Female infertility
Show abstract
20601957 Endometrio
sis
rs16826658, rs10965235 Japanes
e
7199 (1,907 Jap
anese individua
ls with endomet
riosis (cases),
5,292 controls
)
CDKN2BAS
WNT4
Show abstract
25154675 Endometrio
sis
CDKN2B-AS (rs10965235), WNT4 (rs16826658) Korean
1173 (673 cases
of endometrios
is, 500 control
s)
WNT4
CDKN2B-AS
Show abstract
23142796 Endometrio
sis
CDKN2BAS rs1333049, rs7521902 close to WNT4, rs12700667 in an inter-genic region on 7p15.2 and fibronectin 1 rs1250248
3015 (305 endom
etriosis patien
ts and 2710 con
trols)
CDKN2BAS
WNT4
fibronectin 1
Show abstract