MCM8 (minichromosome maintenance 8 homologous recombination repair factor) - Rat Genome Database

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Gene: MCM8 (minichromosome maintenance 8 homologous recombination repair factor) Homo sapiens
Analyze
Symbol: MCM8
Name: minichromosome maintenance 8 homologous recombination repair factor
RGD ID: 1313114
HGNC Page HGNC:16147
Description: Enables chromatin binding activity; enzyme binding activity; and mismatch repair complex binding activity. Involved in several processes, including DNA duplex unwinding; protein stabilization; and recombinational repair. Located in nucleus. Part of MCM8-MCM9 complex. Implicated in primary ovarian insufficiency 10.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C20orf154; dJ967N21.5; DNA helicase MCM8; DNA replication licensing factor MCM8; MCM8 minichromosome maintenance deficient 8; mcm8 minichromosome maintenance deficient 8 (s. cerevisiae); MGC119522; MGC119523; MGC12866; MGC4816; minichromosome maintenance 8; minichromosome maintenance complex component 8; POF10; REC; REC homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38205,950,652 - 5,998,977 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl205,950,652 - 5,998,977 (+)EnsemblGRCh38hg38GRCh38
GRCh37205,931,298 - 5,979,623 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36205,879,298 - 5,923,833 (+)NCBINCBI36Build 36hg18NCBI36
Celera206,002,910 - 6,047,121 (+)NCBICelera
Cytogenetic Map20p12.3NCBI
HuRef205,887,832 - 5,932,254 (+)NCBIHuRef
CHM1_1205,931,687 - 5,975,911 (+)NCBICHM1_1
T2T-CHM13v2.0205,990,987 - 6,039,282 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromosome  (IEA)
MCM complex  (IBA,IEA)
MCM8-MCM9 complex  (IDA,IEA,IPI)
membrane  (IEA)
nucleoplasm  (TAS)
nucleus  (IBA,IDA,IEA)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8889548   PMID:10436018   PMID:11095689   PMID:11125146   PMID:11780052   PMID:11931757   PMID:12045100   PMID:12477932   PMID:12527764   PMID:12771218   PMID:12791985   PMID:14702039  
PMID:15226314   PMID:15489334   PMID:15684404   PMID:15707391   PMID:18072282   PMID:19448619   PMID:19448621   PMID:19913121   PMID:19997598   PMID:20205591   PMID:20628086   PMID:20800603  
PMID:21873635   PMID:22131368   PMID:22267201   PMID:22540012   PMID:22696150   PMID:22771115   PMID:23284306   PMID:23307926   PMID:23401855   PMID:23551011   PMID:24299456   PMID:24981860  
PMID:25036637   PMID:25437880   PMID:25873734   PMID:26186194   PMID:26215093   PMID:26300262   PMID:26673895   PMID:26823731   PMID:26870752   PMID:26871637   PMID:27573988   PMID:27802094  
PMID:28481876   PMID:28487407   PMID:28514442   PMID:28611215   PMID:28863940   PMID:29987050   PMID:30021884   PMID:30648820   PMID:31323040   PMID:31467087   PMID:31753913   PMID:32048466  
PMID:32242235   PMID:32295713   PMID:32296183   PMID:32528060   PMID:32652893   PMID:32694731   PMID:32841224   PMID:33155430   PMID:33828075   PMID:33961781   PMID:34043945   PMID:34889489  
PMID:35271311   PMID:35944360   PMID:37309874   PMID:37349788   PMID:37499664  


Genomics

Comparative Map Data
MCM8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38205,950,652 - 5,998,977 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl205,950,652 - 5,998,977 (+)EnsemblGRCh38hg38GRCh38
GRCh37205,931,298 - 5,979,623 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36205,879,298 - 5,923,833 (+)NCBINCBI36Build 36hg18NCBI36
Celera206,002,910 - 6,047,121 (+)NCBICelera
Cytogenetic Map20p12.3NCBI
HuRef205,887,832 - 5,932,254 (+)NCBIHuRef
CHM1_1205,931,687 - 5,975,911 (+)NCBICHM1_1
T2T-CHM13v2.0205,990,987 - 6,039,282 (+)NCBIT2T-CHM13v2.0
Mcm8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392132,658,061 - 132,686,117 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2132,658,061 - 132,686,117 (+)EnsemblGRCm39 Ensembl
GRCm382132,816,137 - 132,844,197 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2132,816,141 - 132,844,197 (+)EnsemblGRCm38mm10GRCm38
MGSCv372132,642,071 - 132,669,933 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362132,507,776 - 132,535,638 (+)NCBIMGSCv36mm8
Celera2134,043,779 - 134,071,682 (+)NCBICelera
Cytogenetic Map2F2NCBI
cM Map264.75NCBI
Mcm8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83140,539,590 - 140,569,891 (+)NCBIGRCr8
mRatBN7.23120,086,741 - 120,117,008 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3120,086,763 - 120,117,008 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3123,981,812 - 124,012,084 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03132,585,444 - 132,615,628 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03130,237,946 - 130,268,218 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03125,470,499 - 125,500,795 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3125,470,551 - 125,500,795 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03131,954,303 - 131,984,573 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43120,614,429 - 120,644,673 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13120,520,853 - 120,549,803 (+)NCBI
Celera3118,872,729 - 118,902,973 (+)NCBICelera
Cytogenetic Map3q36NCBI
Mcm8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541516,346,253 - 16,379,021 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541516,345,472 - 16,379,922 (+)NCBIChiLan1.0ChiLan1.0
MCM8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2216,872,653 - 6,918,874 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1206,869,479 - 6,920,372 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0205,945,034 - 5,993,725 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1205,727,789 - 5,775,133 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl205,729,174 - 5,775,133 (+)Ensemblpanpan1.1panPan2
MCM8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12415,850,602 - 15,893,452 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2415,814,770 - 15,893,458 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2415,672,843 - 15,715,552 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02416,253,280 - 16,296,002 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2416,217,448 - 16,295,816 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12415,860,050 - 15,902,521 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02415,968,188 - 16,010,880 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02416,299,900 - 16,342,388 (-)NCBIUU_Cfam_GSD_1.0
Mcm8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640164,641,384 - 164,677,033 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648513,072,600 - 13,108,411 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648513,072,791 - 13,108,392 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MCM8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1714,790,396 - 14,837,416 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11714,790,398 - 14,837,420 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21715,896,975 - 15,943,939 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MCM8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1232,137,983 - 32,181,187 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl232,138,173 - 32,181,179 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607112,360,094 - 12,404,612 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mcm8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247416,787,578 - 6,827,188 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247416,787,555 - 6,826,033 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MCM8
68 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 copy number gain See cases [RCV000051227] Chr20:89939..25697564 [GRCh38]
Chr20:70580..25678200 [GRCh37]
Chr20:18580..25626200 [NCBI36]
Chr20:20p13-11.21		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3 copy number gain See cases [RCV000051041] Chr20:89939..19146279 [GRCh38]
Chr20:70580..19126923 [GRCh37]
Chr20:18580..19074923 [NCBI36]
Chr20:20p13-11.23		 pathogenic
NM_032485.6(MCM8):c.1033C>T (p.Arg345Ter) single nucleotide variant Premature ovarian failure 10 [RCV002472389] Chr20:5967835 [GRCh38]
Chr20:5948481 [GRCh37]
Chr20:20p12.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_032485.6(MCM8):c.34C>T (p.Arg12Ter) single nucleotide variant Premature ovarian failure 10 [RCV001333337] Chr20:5952049 [GRCh38]
Chr20:5932695 [GRCh37]
Chr20:20p12.3		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3 copy number gain See cases [RCV000052995] Chr20:89939..19071495 [GRCh38]
Chr20:70580..19052139 [GRCh37]
Chr20:18580..19000139 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13-11.22(chr20:89939-21787252)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|See cases [RCV000052996] Chr20:89939..21787252 [GRCh38]
Chr20:70580..21767890 [GRCh37]
Chr20:18580..21715890 [NCBI36]
Chr20:20p13-11.22		 pathogenic
GRCh38/hg38 20p13-12.1(chr20:89939-14818511)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|See cases [RCV000052997] Chr20:89939..14818511 [GRCh38]
Chr20:70580..14799157 [GRCh37]
Chr20:18580..14747157 [NCBI36]
Chr20:20p13-12.1		 pathogenic
NM_032485.6(MCM8):c.89A>C (p.Lys30Thr) single nucleotide variant Premature ovarian failure 10 [RCV001002733] Chr20:5952104 [GRCh38]
Chr20:5932750 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.1954-1G>A single nucleotide variant Premature ovarian failure 10 [RCV000190838] Chr20:5985921 [GRCh38]
Chr20:5966567 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_032485.6(MCM8):c.1470_1471insTA (p.Leu491fs) insertion Premature ovarian failure 10 [RCV000190839] Chr20:5977950..5977951 [GRCh38]
Chr20:5958596..5958597 [GRCh37]
Chr20:20p12.3		 pathogenic
GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3 copy number gain See cases [RCV000138677] Chr20:80106..13029401 [GRCh38]
Chr20:60747..13010049 [GRCh37]
Chr20:8747..12958049 [NCBI36]
Chr20:20p13-12.1		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3 copy number gain See cases [RCV000141348] Chr20:84402..6159078 [GRCh38]
Chr20:65043..6139725 [GRCh37]
Chr20:13043..6087725 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 copy number gain See cases [RCV000142017] Chr20:80927..26324843 [GRCh38]
Chr20:61568..26305479 [GRCh37]
Chr20:9568..26253479 [NCBI36]
Chr20:20p13-11.1		 pathogenic
NM_032485.6(MCM8):c.446C>G (p.Pro149Arg) single nucleotide variant Premature ovarian failure 10 [RCV000162356]|not provided [RCV000148343] Chr20:5955211 [GRCh38]
Chr20:5935857 [GRCh37]
Chr20:20p12.3		 pathogenic|not provided
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 copy number gain See cases [RCV000133996] Chr20:80106..30227427 [GRCh38]
Chr20:60747..29462103 [GRCh37]
Chr20:8747..28075764 [NCBI36]
Chr20:20p13-q11.1		 pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:4343033-6911730)x1 copy number loss See cases [RCV000137695] Chr20:4343033..6911730 [GRCh38]
Chr20:4323680..6892377 [GRCh37]
Chr20:4271680..6840377 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3 copy number gain See cases [RCV000139597] Chr20:80093..6386012 [GRCh38]
Chr20:60734..6366659 [GRCh37]
Chr20:8734..6314659 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3 copy number gain See cases [RCV000142917] Chr20:1269303..8626911 [GRCh38]
Chr20:1249947..8607558 [GRCh37]
Chr20:1197947..8555558 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3 copy number gain See cases [RCV000143426] Chr20:80928..18688031 [GRCh38]
Chr20:61569..18668675 [GRCh37]
Chr20:9569..18616675 [NCBI36]
Chr20:20p13-11.23		 pathogenic
NM_032485.6(MCM8):c.278_281del (p.Ile93fs) microsatellite not provided [RCV000414339] Chr20:5954628..5954631 [GRCh38]
Chr20:5935274..5935277 [GRCh37]
Chr20:20p12.3		 pathogenic
GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3 copy number gain not provided [RCV000487461] Chr20:80198..26208081 [GRCh37]
Chr20:20p13-q11.21		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3 copy number gain See cases [RCV000512556] Chr20:61568..10486106 [GRCh37]
Chr20:20p13-12.2		 likely pathogenic
GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3 copy number gain See cases [RCV000239954] Chr20:80198..26075841 [GRCh37]
Chr20:20p13-11.1		 pathogenic
GRCh37/hg19 20p13-12.1(chr20:4392930-12667768)x1 copy number loss See cases [RCV000446718] Chr20:4392930..12667768 [GRCh37]
Chr20:20p13-12.1		 pathogenic
GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1 copy number loss See cases [RCV000511897] Chr20:2463101..8185680 [GRCh37]
Chr20:20p13-12.3		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1 copy number loss not provided [RCV000684134] Chr20:3092739..17091453 [GRCh37]
Chr20:20p13-12.1		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_032485.6(MCM8):c.1330A>G (p.Ile444Val) single nucleotide variant Premature ovarian failure 10 [RCV001002734] Chr20:5973131 [GRCh38]
Chr20:5953777 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.292G>C (p.Ala98Pro) single nucleotide variant not provided [RCV000966082] Chr20:5954646 [GRCh38]
Chr20:5935292 [GRCh37]
Chr20:20p12.3		 benign
NM_032485.6(MCM8):c.844C>T (p.Leu282Phe) single nucleotide variant not provided [RCV000966083] Chr20:5963328 [GRCh38]
Chr20:5943974 [GRCh37]
Chr20:20p12.3		 benign
NM_032485.6(MCM8):c.2208C>T (p.Asp736=) single nucleotide variant not provided [RCV000966084] Chr20:5987326 [GRCh38]
Chr20:5967972 [GRCh37]
Chr20:20p12.3		 benign
NM_032485.6(MCM8):c.548A>G (p.Asn183Ser) single nucleotide variant not provided [RCV000965467] Chr20:5957187 [GRCh38]
Chr20:5937833 [GRCh37]
Chr20:20p12.3		 benign
NM_032485.6(MCM8):c.1092T>C (p.Asn364=) single nucleotide variant not provided [RCV000949090] Chr20:5967894 [GRCh38]
Chr20:5948540 [GRCh37]
Chr20:20p12.3		 benign
NM_032485.6(MCM8):c.464G>A (p.Cys155Tyr) single nucleotide variant not provided [RCV000887282] Chr20:5955229 [GRCh38]
Chr20:5935875 [GRCh37]
Chr20:20p12.3		 benign
NM_032485.6(MCM8):c.261C>T (p.Ser87=) single nucleotide variant not provided [RCV000917576] Chr20:5954615 [GRCh38]
Chr20:5935261 [GRCh37]
Chr20:20p12.3		 likely benign
NM_032485.6(MCM8):c.421A>G (p.Ile141Val) single nucleotide variant not provided [RCV000880056] Chr20:5955186 [GRCh38]
Chr20:5935832 [GRCh37]
Chr20:20p12.3		 benign
NM_032485.6(MCM8):c.2149A>G (p.Ile717Val) single nucleotide variant not provided [RCV000970759] Chr20:5986117 [GRCh38]
Chr20:5966763 [GRCh37]
Chr20:20p12.3		 benign
NM_032485.6(MCM8):c.325T>G (p.Leu109Val) single nucleotide variant not provided [RCV000973615] Chr20:5954679 [GRCh38]
Chr20:5935325 [GRCh37]
Chr20:20p12.3		 benign
NM_032485.6(MCM8):c.414A>G (p.Ile138Met) single nucleotide variant MCM8-related condition [RCV003903282]|not provided [RCV000955759] Chr20:5955179 [GRCh38]
Chr20:5935825 [GRCh37]
Chr20:20p12.3		 benign
NM_032485.6(MCM8):c.925C>T (p.Arg309Ter) single nucleotide variant Premature ovarian failure 10 [RCV001002743] Chr20:5967485 [GRCh38]
Chr20:5948131 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_032485.6(MCM8):c.2059C>T (p.Arg687Ter) single nucleotide variant Premature ovarian failure 10 [RCV001356475] Chr20:5986027 [GRCh38]
Chr20:5966673 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_032485.6(MCM8):c.1735dup (p.Met579fs) duplication not provided [RCV002954227] Chr20:5983162..5983163 [GRCh38]
Chr20:5963808..5963809 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_032485.6(MCM8):c.2470C>T (p.Gln824Ter) single nucleotide variant not provided [RCV001772488] Chr20:5994338 [GRCh38]
Chr20:5974984 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.482A>C (p.His161Pro) single nucleotide variant Azoospermia [RCV001797582] Chr20:5955247 [GRCh38]
Chr20:5935893 [GRCh37]
Chr20:20p12.3		 pathogenic
NC_000020.10:g.(?_5896972)_(6012016_?)del deletion not provided [RCV003122872] Chr20:5896972..6012016 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_032485.6(MCM8):c.1124A>G (p.Asp375Gly) single nucleotide variant Inborn genetic diseases [RCV003276001] Chr20:5967926 [GRCh38]
Chr20:5948572 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.680G>A (p.Arg227His) single nucleotide variant Inborn genetic diseases [RCV003242399] Chr20:5958617 [GRCh38]
Chr20:5939263 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.1772T>C (p.Phe591Ser) single nucleotide variant Inborn genetic diseases [RCV002997407] Chr20:5984819 [GRCh38]
Chr20:5965465 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.1429G>A (p.Val477Ile) single nucleotide variant Inborn genetic diseases [RCV002771780] Chr20:5977909 [GRCh38]
Chr20:5958555 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.2122A>G (p.Ile708Val) single nucleotide variant Inborn genetic diseases [RCV002818728] Chr20:5986090 [GRCh38]
Chr20:5966736 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.2203G>C (p.Glu735Gln) single nucleotide variant Inborn genetic diseases [RCV002973865] Chr20:5987321 [GRCh38]
Chr20:5967967 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.637A>G (p.Asn213Asp) single nucleotide variant Inborn genetic diseases [RCV002864536] Chr20:5958574 [GRCh38]
Chr20:5939220 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.175A>G (p.Thr59Ala) single nucleotide variant Inborn genetic diseases [RCV003001658] Chr20:5952450 [GRCh38]
Chr20:5933096 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.319A>G (p.Ile107Val) single nucleotide variant Inborn genetic diseases [RCV003001745] Chr20:5954673 [GRCh38]
Chr20:5935319 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.173C>T (p.Ser58Leu) single nucleotide variant Inborn genetic diseases [RCV002759120] Chr20:5952448 [GRCh38]
Chr20:5933094 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.575C>A (p.Pro192Gln) single nucleotide variant Inborn genetic diseases [RCV002827447] Chr20:5957214 [GRCh38]
Chr20:5937860 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.351_354del (p.Lys118fs) microsatellite not provided [RCV003087342] Chr20:5955110..5955113 [GRCh38]
Chr20:5935756..5935759 [GRCh37]
Chr20:20p12.3		 pathogenic
NM_032485.6(MCM8):c.2020C>T (p.Arg674Trp) single nucleotide variant Inborn genetic diseases [RCV002714281] Chr20:5985988 [GRCh38]
Chr20:5966634 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.190T>G (p.Ser64Ala) single nucleotide variant Inborn genetic diseases [RCV002989322] Chr20:5952465 [GRCh38]
Chr20:5933111 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.685A>G (p.Ser229Gly) single nucleotide variant Inborn genetic diseases [RCV002940141] Chr20:5958622 [GRCh38]
Chr20:5939268 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.2453T>C (p.Ile818Thr) single nucleotide variant Inborn genetic diseases [RCV002935198] Chr20:5994321 [GRCh38]
Chr20:5974967 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.802G>A (p.Val268Met) single nucleotide variant Inborn genetic diseases [RCV002897867] Chr20:5963286 [GRCh38]
Chr20:5943932 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.1340A>C (p.Asp447Ala) single nucleotide variant Inborn genetic diseases [RCV002812557] Chr20:5973141 [GRCh38]
Chr20:5953787 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.1890T>A (p.Ser630Arg) single nucleotide variant Inborn genetic diseases [RCV003178464] Chr20:5984937 [GRCh38]
Chr20:5965583 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.128C>G (p.Thr43Ser) single nucleotide variant Inborn genetic diseases [RCV003302601] Chr20:5952143 [GRCh38]
Chr20:5932789 [GRCh37]
Chr20:20p12.3		 uncertain significance
GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3 copy number gain Renal agenesis [RCV003327640] Chr20:87153..23635465 [GRCh38]
Chr20:20p13-11.21		 pathogenic
NM_032485.6(MCM8):c.1404C>A (p.Cys468Ter) single nucleotide variant Premature ovarian failure 10 [RCV003389312] Chr20:5977884 [GRCh38]
Chr20:5958530 [GRCh37]
Chr20:20p12.3		 likely pathogenic
NM_032485.6(MCM8):c.2291C>T (p.Ser764Phe) single nucleotide variant MCM8-related condition [RCV003922004] Chr20:5993556 [GRCh38]
Chr20:5974202 [GRCh37]
Chr20:20p12.3		 likely benign
NM_032485.6(MCM8):c.832C>T (p.Arg278Cys) single nucleotide variant MCM8-related condition [RCV003931725] Chr20:5963316 [GRCh38]
Chr20:5943962 [GRCh37]
Chr20:20p12.3		 likely benign
GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3 copy number gain not provided [RCV003885494] Chr20:68351..16142323 [GRCh37]
Chr20:20p13-12.1		 pathogenic
GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3 copy number gain not provided [RCV003885495] Chr20:68351..23860313 [GRCh37]
Chr20:20p13-11.21		 pathogenic
NM_032485.6(MCM8):c.2060G>A (p.Arg687Gln) single nucleotide variant MCM8-related condition [RCV003897362] Chr20:5986028 [GRCh38]
Chr20:5966674 [GRCh37]
Chr20:20p12.3		 benign
NM_032485.6(MCM8):c.954T>C (p.Asp318=) single nucleotide variant MCM8-related condition [RCV003914487] Chr20:5967514 [GRCh38]
Chr20:5948160 [GRCh37]
Chr20:20p12.3		 benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_032485.6(MCM8):c.875+7G>A single nucleotide variant not provided [RCV000895893] Chr20:5963366 [GRCh38]
Chr20:5944012 [GRCh37]
Chr20:20p12.3		 likely benign
GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3 copy number gain not provided [RCV001007068] Chr20:61568..26305479 [GRCh37]
Chr20:20p13-11.1		 pathogenic
NM_032485.6(MCM8):c.-5-7C>T single nucleotide variant not provided [RCV001680224] Chr20:5952004 [GRCh38]
Chr20:5932650 [GRCh37]
Chr20:20p12.3		 benign
NM_032485.6(MCM8):c.1226del (p.Ser409fs) deletion Premature ovarian failure 10 [RCV001782423] Chr20:5972009 [GRCh38]
Chr20:5952655 [GRCh37]
Chr20:20p12.3		 likely pathogenic
GRCh37/hg19 20p13-12.2(chr20:3178539-11848383) copy number loss 20p12.3 microdeletion syndrome [RCV002280726] Chr20:3178539..11848383 [GRCh37]
Chr20:20p13-12.2		 pathogenic
NM_032485.6(MCM8):c.1953+1G>C single nucleotide variant Premature ovarian failure 10 [RCV001839421] Chr20:5985001 [GRCh38]
Chr20:5965647 [GRCh37]
Chr20:20p12.3		 likely pathogenic
NC_000020.10:g.(?_1959939)_(6760201_?)dup duplication Huntington disease-like 1 [RCV003110989]|Pigmentary pallidal degeneration [RCV003122285] Chr20:1959939..6760201 [GRCh37]
Chr20:20p13-12.3		 uncertain significance
NM_032485.6(MCM8):c.790-2A>G single nucleotide variant not provided [RCV003118477] Chr20:5963272 [GRCh38]
Chr20:5943918 [GRCh37]
Chr20:20p12.3		 likely pathogenic
NM_032485.6(MCM8):c.532C>G (p.Gln178Glu) single nucleotide variant Inborn genetic diseases [RCV003254936] Chr20:5957171 [GRCh38]
Chr20:5937817 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.134G>A (p.Gly45Glu) single nucleotide variant Premature ovarian failure 10 [RCV002288276] Chr20:5952149 [GRCh38]
Chr20:5932795 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.2059C>G (p.Arg687Gly) single nucleotide variant Inborn genetic diseases [RCV003196879] Chr20:5986027 [GRCh38]
Chr20:5966673 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.1511C>T (p.Ala504Val) single nucleotide variant Inborn genetic diseases [RCV002839645] Chr20:5977991 [GRCh38]
Chr20:5958637 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.1738G>A (p.Gly580Arg) single nucleotide variant Inborn genetic diseases [RCV002727499] Chr20:5984785 [GRCh38]
Chr20:5965431 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.1870A>G (p.Thr624Ala) single nucleotide variant Inborn genetic diseases [RCV002778150] Chr20:5984917 [GRCh38]
Chr20:5965563 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.26G>T (p.Gly9Val) single nucleotide variant Inborn genetic diseases [RCV002738222] Chr20:5952041 [GRCh38]
Chr20:5932687 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.2374A>G (p.Asn792Asp) single nucleotide variant Inborn genetic diseases [RCV002644771] Chr20:5993639 [GRCh38]
Chr20:5974285 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.1669A>G (p.Ile557Val) single nucleotide variant Inborn genetic diseases [RCV002768714] Chr20:5983101 [GRCh38]
Chr20:5963747 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.2050G>C (p.Glu684Gln) single nucleotide variant Inborn genetic diseases [RCV002959939] Chr20:5986018 [GRCh38]
Chr20:5966664 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.1734-2A>G single nucleotide variant not provided [RCV003011248] Chr20:5984779 [GRCh38]
Chr20:5965425 [GRCh37]
Chr20:20p12.3		 likely pathogenic
NM_032485.6(MCM8):c.2258C>G (p.Ser753Cys) single nucleotide variant Inborn genetic diseases [RCV003204664] Chr20:5993523 [GRCh38]
Chr20:5974169 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.1319A>G (p.Asn440Ser) single nucleotide variant Inborn genetic diseases [RCV003174912] Chr20:5973120 [GRCh38]
Chr20:5953766 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.917G>A (p.Arg306Gln) single nucleotide variant Inborn genetic diseases [RCV003207328] Chr20:5967477 [GRCh38]
Chr20:5948123 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.1096A>C (p.Lys366Gln) single nucleotide variant Inborn genetic diseases [RCV003309686] Chr20:5967898 [GRCh38]
Chr20:5948544 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.169C>T (p.Leu57Phe) single nucleotide variant Inborn genetic diseases [RCV003357199] Chr20:5952444 [GRCh38]
Chr20:5933090 [GRCh37]
Chr20:20p12.3		 uncertain significance
NM_032485.6(MCM8):c.2333G>C (p.Arg778Thr) single nucleotide variant Inborn genetic diseases [RCV003364189] Chr20:5993598 [GRCh38]
Chr20:5974244 [GRCh37]
Chr20:20p12.3		 uncertain significance
GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3 copy number gain not provided [RCV003485207] Chr20:61569..9542361 [GRCh37]
Chr20:20p13-12.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:831
Count of miRNA genes:309
Interacting mature miRNAs:326
Transcripts:ENST00000265187, ENST00000378883, ENST00000378886, ENST00000378896
Prediction methods: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.

Markers in Region
SGC32385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37205,975,698 - 5,975,826UniSTSGRCh37
Build 36205,923,698 - 5,923,826RGDNCBI36
Celera206,046,986 - 6,047,114RGD
Cytogenetic Map20p12.3UniSTS
HuRef205,932,100 - 5,932,228UniSTS
GeneMap99-GB4 RH Map2044.31UniSTS
GeneMap99-GB4 RH Map2038.62UniSTS
Whitehead-RH Map2047.5UniSTS
RH68660  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37205,952,031 - 5,952,172UniSTSGRCh37
Build 36205,900,031 - 5,900,172RGDNCBI36
Celera206,023,309 - 6,023,450RGD
Cytogenetic Map20p12.3UniSTS
HuRef205,908,314 - 5,908,455UniSTS
GeneMap99-GB4 RH Map2036.6UniSTS
PMC156728P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37205,948,085 - 5,948,643UniSTSGRCh37
Build 36205,896,085 - 5,896,643RGDNCBI36
Celera206,019,363 - 6,019,921RGD
Cytogenetic Map20p12.3UniSTS
WI-17957  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37205,945,537 - 5,945,664UniSTSGRCh37
Build 36205,893,537 - 5,893,664RGDNCBI36
Celera206,016,815 - 6,016,942RGD
Cytogenetic Map20p12.3UniSTS
HuRef205,901,734 - 5,901,861UniSTS
GeneMap99-GB4 RH Map2038.72UniSTS
GeneMap99-GB4 RH Map2044.31UniSTS
Whitehead-RH Map2048.6UniSTS
MCM8_8114  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37205,975,017 - 5,975,602UniSTSGRCh37
Build 36205,923,017 - 5,923,602RGDNCBI36
Celera206,046,302 - 6,046,890RGD
HuRef205,931,416 - 5,932,004UniSTS
RH102540  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map20p12.3UniSTS
GeneMap99-GB4 RH Map2040.68UniSTS


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 pharyngeal arch
High
Medium 187 15 70 54 712 58 297 64 125 89 596 279 9 15 2
Low 2252 2676 1617 531 1017 368 4060 2057 3180 329 864 1334 166 1 1204 2773 3 2
Below cutoff 300 39 39 222 39 76 429 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001281520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001281521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001281522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_182802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI200387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ439063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY158211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC080656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM664368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS402789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS402791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS402793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS402795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS402799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS402801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF454943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265187   ⟹   ENSP00000265187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl205,950,931 - 5,995,206 (+)Ensembl
RefSeq Acc Id: ENST00000378883   ⟹   ENSP00000368161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl205,950,652 - 5,995,206 (+)Ensembl
RefSeq Acc Id: ENST00000378886   ⟹   ENSP00000368164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl205,950,652 - 5,995,206 (+)Ensembl
RefSeq Acc Id: ENST00000378896   ⟹   ENSP00000368174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl205,950,652 - 5,995,206 (+)Ensembl
RefSeq Acc Id: ENST00000610722   ⟹   ENSP00000478141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl205,950,652 - 5,998,977 (+)Ensembl
RefSeq Acc Id: NM_001281520   ⟹   NP_001268449
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38205,950,652 - 5,998,977 (+)NCBI
HuRef205,887,832 - 5,932,254 (+)NCBI
CHM1_1205,931,687 - 5,975,911 (+)NCBI
T2T-CHM13v2.0205,990,987 - 6,039,282 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001281521   ⟹   NP_001268450
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38205,950,652 - 5,998,977 (+)NCBI
HuRef205,887,832 - 5,932,254 (+)NCBI
CHM1_1205,931,687 - 5,975,911 (+)NCBI
T2T-CHM13v2.0205,990,987 - 6,039,282 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001281522   ⟹   NP_001268451
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38205,950,652 - 5,998,977 (+)NCBI
HuRef205,887,832 - 5,932,254 (+)NCBI
CHM1_1205,931,687 - 5,975,911 (+)NCBI
T2T-CHM13v2.0205,990,987 - 6,039,282 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032485   ⟹   NP_115874
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38205,950,652 - 5,998,977 (+)NCBI
GRCh37205,931,298 - 5,975,852 (+)NCBI
Build 36205,879,298 - 5,923,833 (+)NCBI Archive
Celera206,002,910 - 6,047,121 (+)RGD
HuRef205,887,832 - 5,932,254 (+)NCBI
CHM1_1205,931,687 - 5,975,911 (+)NCBI
T2T-CHM13v2.0205,990,987 - 6,039,282 (+)NCBI
Sequence:
RefSeq Acc Id: NM_182802   ⟹   NP_877954
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38205,950,652 - 5,998,977 (+)NCBI
GRCh37205,931,298 - 5,975,852 (+)NCBI
Build 36205,879,298 - 5,923,833 (+)NCBI Archive
Celera206,002,910 - 6,047,121 (+)RGD
HuRef205,887,832 - 5,932,254 (+)NCBI
CHM1_1205,931,687 - 5,975,911 (+)NCBI
T2T-CHM13v2.0205,990,987 - 6,039,282 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028105   ⟹   XP_016883594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38205,950,652 - 5,998,977 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047440552   ⟹   XP_047296508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38205,950,652 - 5,998,977 (+)NCBI
RefSeq Acc Id: XM_047440553   ⟹   XP_047296509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38205,950,652 - 5,984,955 (+)NCBI
RefSeq Acc Id: XM_047440554   ⟹   XP_047296510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38205,950,652 - 5,977,967 (+)NCBI
RefSeq Acc Id: XM_047440555   ⟹   XP_047296511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38205,950,652 - 5,978,017 (+)NCBI
RefSeq Acc Id: XM_054324136   ⟹   XP_054180111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0205,990,987 - 6,039,282 (+)NCBI
RefSeq Acc Id: XM_054324137   ⟹   XP_054180112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0205,990,987 - 6,039,282 (+)NCBI
RefSeq Acc Id: XM_054324138   ⟹   XP_054180113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0205,990,987 - 6,025,266 (+)NCBI
RefSeq Acc Id: XM_054324139   ⟹   XP_054180114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0205,990,987 - 6,018,279 (+)NCBI
RefSeq Acc Id: XM_054324140   ⟹   XP_054180115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0205,990,987 - 6,018,329 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001268449 (Get FASTA)   NCBI Sequence Viewer  
  NP_001268450 (Get FASTA)   NCBI Sequence Viewer  
  NP_001268451 (Get FASTA)   NCBI Sequence Viewer  
  NP_115874 (Get FASTA)   NCBI Sequence Viewer  
  NP_877954 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883594 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296508 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296509 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296510 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296511 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180111 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180112 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180113 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180114 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180115 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH08830 (Get FASTA)   NCBI Sequence Viewer  
  AAH80656 (Get FASTA)   NCBI Sequence Viewer  
  AAI01055 (Get FASTA)   NCBI Sequence Viewer  
  AAI01056 (Get FASTA)   NCBI Sequence Viewer  
  AAI01057 (Get FASTA)   NCBI Sequence Viewer  
  AAI01058 (Get FASTA)   NCBI Sequence Viewer  
  AAO21222 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34261 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34262 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34263 (Get FASTA)   NCBI Sequence Viewer  
  BAB55260 (Get FASTA)   NCBI Sequence Viewer  
  BAG37214 (Get FASTA)   NCBI Sequence Viewer  
  BAG60144 (Get FASTA)   NCBI Sequence Viewer  
  CAD27750 (Get FASTA)   NCBI Sequence Viewer  
  CAL40366 (Get FASTA)   NCBI Sequence Viewer  
  CAL40367 (Get FASTA)   NCBI Sequence Viewer  
  CAL40368 (Get FASTA)   NCBI Sequence Viewer  
  CAL40369 (Get FASTA)   NCBI Sequence Viewer  
  CAL40371 (Get FASTA)   NCBI Sequence Viewer  
  CAL40372 (Get FASTA)   NCBI Sequence Viewer  
  EAX10403 (Get FASTA)   NCBI Sequence Viewer  
  EAX10404 (Get FASTA)   NCBI Sequence Viewer  
  EAX10405 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000265187
  ENSP00000265187.4
  ENSP00000368161
  ENSP00000368161.1
  ENSP00000368164
  ENSP00000368164.2
  ENSP00000368174
  ENSP00000368174.3
  ENSP00000478141
  ENSP00000478141.1
  ENSP00000498784.1
GenBank Protein Q9UJA3 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_877954   ⟸   NM_182802
- Peptide Label: isoform 2
- UniProtKB: Q9UJA3 (UniProtKB/Swiss-Prot),   B4DN82 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_115874   ⟸   NM_032485
- Peptide Label: isoform 1
- UniProtKB: Q86US4 (UniProtKB/Swiss-Prot),   Q495R7 (UniProtKB/Swiss-Prot),   Q495R6 (UniProtKB/Swiss-Prot),   Q495R4 (UniProtKB/Swiss-Prot),   E7EQU7 (UniProtKB/Swiss-Prot),   D3DW08 (UniProtKB/Swiss-Prot),   B2RBG7 (UniProtKB/Swiss-Prot),   Q969I5 (UniProtKB/Swiss-Prot),   Q9UJA3 (UniProtKB/Swiss-Prot),   A0A494C100 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001268449   ⟸   NM_001281520
- Peptide Label: isoform 1
- UniProtKB: Q86US4 (UniProtKB/Swiss-Prot),   Q495R7 (UniProtKB/Swiss-Prot),   Q495R6 (UniProtKB/Swiss-Prot),   Q495R4 (UniProtKB/Swiss-Prot),   E7EQU7 (UniProtKB/Swiss-Prot),   D3DW08 (UniProtKB/Swiss-Prot),   B2RBG7 (UniProtKB/Swiss-Prot),   Q969I5 (UniProtKB/Swiss-Prot),   Q9UJA3 (UniProtKB/Swiss-Prot),   A0A494C100 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001268451   ⟸   NM_001281522
- Peptide Label: isoform 4
- UniProtKB: Q9UJA3 (UniProtKB/Swiss-Prot),   B4DN82 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001268450   ⟸   NM_001281521
- Peptide Label: isoform 3
- UniProtKB: A0A494C100 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016883594   ⟸   XM_017028105
- Peptide Label: isoform X1
- UniProtKB: A0A494C100 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000478141   ⟸   ENST00000610722
RefSeq Acc Id: ENSP00000368161   ⟸   ENST00000378883
RefSeq Acc Id: ENSP00000368164   ⟸   ENST00000378886
RefSeq Acc Id: ENSP00000368174   ⟸   ENST00000378896
RefSeq Acc Id: ENSP00000265187   ⟸   ENST00000265187
RefSeq Acc Id: XP_047296508   ⟸   XM_047440552
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047296509   ⟸   XM_047440553
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047296511   ⟸   XM_047440555
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047296510   ⟸   XM_047440554
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054180112   ⟸   XM_054324137
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054180111   ⟸   XM_054324136
- Peptide Label: isoform X1
- UniProtKB: A0A494C100 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054180113   ⟸   XM_054324138
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054180115   ⟸   XM_054324140
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054180114   ⟸   XM_054324139
- Peptide Label: isoform X4
Protein Domains
MCM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UJA3-F1-model_v2 AlphaFold Q9UJA3 1-840 view protein structure

Promoters
RGD ID:6798842
Promoter ID:HG_KWN:38519
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000399350,   OTTHUMT00000077889,   OTTHUMT00000077890,   OTTHUMT00000077891,   OTTHUMT00000077900,   OTTHUMT00000077901,   UC002WMK.1,   UC002WML.1,   UC010GBN.1,   UC010GBO.1,   UC010GBP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36205,879,006 - 5,879,506 (-)MPROMDB
RGD ID:13206331
Promoter ID:EPDNEW_H26745
Type:initiation region
Name:MCM8_1
Description:minichromosome maintenance 8 homologous recombination repairfactor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26746  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38205,950,657 - 5,950,717EPDNEW
RGD ID:13206329
Promoter ID:EPDNEW_H26746
Type:initiation region
Name:MCM8_2
Description:minichromosome maintenance 8 homologous recombination repairfactor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26745  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38205,950,939 - 5,950,999EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16147 AgrOrtholog
COSMIC MCM8 COSMIC
Ensembl Genes ENSG00000125885 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000286235 UniProtKB/TrEMBL
Ensembl Transcript ENST00000265187 ENTREZGENE
  ENST00000265187.4 UniProtKB/Swiss-Prot
  ENST00000378883 ENTREZGENE
  ENST00000378883.5 UniProtKB/Swiss-Prot
  ENST00000378886 ENTREZGENE
  ENST00000378886.6 UniProtKB/Swiss-Prot
  ENST00000378896 ENTREZGENE
  ENST00000378896.7 UniProtKB/Swiss-Prot
  ENST00000610722 ENTREZGENE
  ENST00000610722.4 UniProtKB/Swiss-Prot
  ENST00000652720.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.120.1760 UniProtKB/TrEMBL
  2.20.28.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.40.50.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000125885 GTEx
  ENSG00000286235 GTEx
HGNC ID HGNC:16147 ENTREZGENE
Human Proteome Map MCM8 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CDP-OH_P_trans UniProtKB/TrEMBL
  CDP-OH_PTrfase_TM_dom UniProtKB/TrEMBL
  MCM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MCM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MCM_lid UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MCM_OB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NA-bd_OB-fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84515 UniProtKB/Swiss-Prot
NCBI Gene 84515 ENTREZGENE
OMIM 608187 OMIM
PANTHER DNA HELICASE MCM8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11630 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CDP-OH_P_transf UniProtKB/TrEMBL
  MCM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MCM_lid UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MCM_OB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25696 PharmGKB
PRINTS MCMFAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE MCM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MCM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50249 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z5Q9_HUMAN UniProtKB/TrEMBL
  A0A0S2Z5R6_HUMAN UniProtKB/TrEMBL
  A0A0S2Z618_HUMAN UniProtKB/TrEMBL
  A0A494C100 ENTREZGENE, UniProtKB/TrEMBL
  B2RBG7 ENTREZGENE
  B4DN82 ENTREZGENE, UniProtKB/TrEMBL
  D3DW08 ENTREZGENE
  E7EQU7 ENTREZGENE
  MCM8_HUMAN UniProtKB/Swiss-Prot
  Q495R4 ENTREZGENE
  Q495R6 ENTREZGENE
  Q495R7 ENTREZGENE
  Q86US4 ENTREZGENE
  Q969I5 ENTREZGENE
  Q9UJA3 ENTREZGENE
UniProt Secondary B2RBG7 UniProtKB/Swiss-Prot
  D3DW08 UniProtKB/Swiss-Prot
  E7EQU7 UniProtKB/Swiss-Prot
  Q495R4 UniProtKB/Swiss-Prot
  Q495R6 UniProtKB/Swiss-Prot
  Q495R7 UniProtKB/Swiss-Prot
  Q86US4 UniProtKB/Swiss-Prot
  Q969I5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-09-08 MCM8  minichromosome maintenance 8 homologous recombination repair factor    minichromosome maintenance complex component 8  Symbol and/or name change 5135510 APPROVED