MNS1 (meiosis specific nuclear structural 1) - Rat Genome Database

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Gene: MNS1 (meiosis specific nuclear structural 1) Homo sapiens
Analyze
Symbol: MNS1
Name: meiosis specific nuclear structural 1
RGD ID: 1605067
HGNC Page HGNC:29636
Description: Enables identical protein binding activity. Predicted to be involved in cilium organization. Predicted to act upstream of or within left/right axis specification. Located in axonemal microtubule. Implicated in visceral heterotaxy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ11222; FLJ26051; HTX9; meiosis-specific nuclear structural 1; meiosis-specific nuclear structural protein 1; SPATA40; spermatogenesis associated 40
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
GRCh381556,428,724 - 56,465,137 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1556,421,544 - 56,465,137 (-)EnsemblGRCh38hg38GRCh38
GRCh371556,720,922 - 56,757,335 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361554,508,299 - 54,544,627 (-)NCBINCBI36Build 36hg18NCBI36
Celera1533,609,956 - 33,646,382 (-)NCBICelera
Cytogenetic Map15q21.3NCBI
HuRef1533,544,043 - 33,580,471 (-)NCBIHuRef
CHM1_11556,839,205 - 56,875,585 (-)NCBICHM1_1
T2T-CHM13v2.01554,231,531 - 54,267,997 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
aristolochic acid A  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
cefaloridine  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
cylindrospermopsin  (EXP)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
entinostat  (EXP)
ethyl methanesulfonate  (EXP)
folic acid  (EXP,ISO)
furan  (ISO)
L-methionine  (ISO)
Licochalcone B  (EXP)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
Muraglitazar  (ISO)
N-Nitrosopyrrolidine  (EXP)
nickel sulfate  (EXP)
oxaliplatin  (EXP)
ozone  (ISO)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenethyl isothiocyanate  (EXP)
potassium chromate  (EXP)
propanal  (EXP)
quercetin  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sulforaphane  (EXP)
Tesaglitazar  (ISO)
testosterone  (EXP)
titanium dioxide  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7625268   PMID:8032679   PMID:12477932   PMID:14702039   PMID:15942958   PMID:16189514   PMID:21873635   PMID:22396656   PMID:23333304   PMID:23455924   PMID:23770605   PMID:24068947  
PMID:25187353   PMID:25416956   PMID:26344197   PMID:27107014   PMID:27173435   PMID:30021884   PMID:30148830   PMID:31534215   PMID:32296183   PMID:32393512   PMID:32814053   PMID:33037173  
PMID:33506565   PMID:33961781   PMID:35271311   PMID:36191189  


Genomics

Comparative Map Data
MNS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381556,428,724 - 56,465,137 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1556,421,544 - 56,465,137 (-)EnsemblGRCh38hg38GRCh38
GRCh371556,720,922 - 56,757,335 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361554,508,299 - 54,544,627 (-)NCBINCBI36Build 36hg18NCBI36
Celera1533,609,956 - 33,646,382 (-)NCBICelera
Cytogenetic Map15q21.3NCBI
HuRef1533,544,043 - 33,580,471 (-)NCBIHuRef
CHM1_11556,839,205 - 56,875,585 (-)NCBICHM1_1
T2T-CHM13v2.01554,231,531 - 54,267,997 (-)NCBIT2T-CHM13v2.0
Mns1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39972,345,276 - 72,366,036 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl972,345,293 - 72,369,307 (+)EnsemblGRCm39 Ensembl
GRCm38972,437,821 - 72,458,581 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl972,438,011 - 72,462,025 (+)EnsemblGRCm38mm10GRCm38
MGSCv37972,286,336 - 72,306,383 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36972,217,444 - 72,257,141 (+)NCBIMGSCv36mm8
Celera969,626,514 - 69,646,492 (+)NCBICelera
Cytogenetic Map9DNCBI
cM Map940.08NCBI
Mns1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8882,029,587 - 82,050,276 (+)NCBIGRCr8
mRatBN7.2873,148,877 - 73,169,570 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl873,148,877 - 73,176,925 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx878,673,818 - 78,694,551 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0876,946,448 - 76,967,181 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0874,783,843 - 74,804,574 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0879,054,240 - 79,075,119 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl879,054,237 - 79,075,122 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0874,012,277 - 74,033,156 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4877,015,290 - 77,035,979 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera868,580,276 - 68,600,965 (-)NCBICelera
Cytogenetic Map8q24NCBI
Mns1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545017,819,929 - 17,851,762 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545017,819,812 - 17,852,157 (+)NCBIChiLan1.0ChiLan1.0
MNS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21645,674,576 - 45,727,980 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11549,851,180 - 49,910,848 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01535,377,490 - 35,433,871 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11553,713,815 - 53,750,213 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1553,714,110 - 53,750,050 (-)Ensemblpanpan1.1panPan2
MNS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13021,648,709 - 21,682,650 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3021,649,008 - 21,682,576 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3021,614,035 - 21,647,973 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03021,799,554 - 21,833,500 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3021,798,594 - 21,833,442 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13021,739,796 - 21,773,734 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03021,823,571 - 21,857,522 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03021,958,214 - 21,992,155 (-)NCBIUU_Cfam_GSD_1.0
Mns1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864099,917,145 - 99,950,471 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647117,770,823 - 17,798,523 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647117,767,063 - 17,798,507 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MNS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1115,471,922 - 115,553,524 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11115,471,904 - 115,526,344 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21127,766,386 - 127,821,073 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MNS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12627,026,932 - 27,060,044 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2627,027,827 - 27,059,863 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048114,244,560 - 114,277,775 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mns1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478115,291,416 - 15,328,173 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478115,292,047 - 15,337,466 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MNS1
34 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1 copy number loss See cases [RCV000051621] Chr15:50864913..59646577 [GRCh38]
Chr15:51157110..59938776 [GRCh37]
Chr15:48944402..57726068 [NCBI36]
Chr15:15q21.2-22.2		 pathogenic
NM_018365.2(MNS1):c.1321A>G (p.Asn441Asp) single nucleotide variant Malignant melanoma [RCV000070834] Chr15:56431447 [GRCh38]
Chr15:56723645 [GRCh37]
Chr15:54510937 [NCBI36]
Chr15:15q21.3		 not provided
NM_018365.4(MNS1):c.1160A>T (p.Asp387Val) single nucleotide variant Inborn genetic diseases [RCV003193918] Chr15:56434247 [GRCh38]
Chr15:56726445 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_018365.4(MNS1):c.1324G>C (p.Ala442Pro) single nucleotide variant Inborn genetic diseases [RCV003176253] Chr15:56431444 [GRCh38]
Chr15:56723642 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_018365.4(MNS1):c.1344G>T (p.Arg448Ser) single nucleotide variant Inborn genetic diseases [RCV003195996] Chr15:56431424 [GRCh38]
Chr15:56723622 [GRCh37]
Chr15:15q21.3		 uncertain significance
GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1 copy number loss See cases [RCV000136661] Chr15:51276690..57088386 [GRCh38]
Chr15:51568887..57380584 [GRCh37]
Chr15:49356179..55167876 [NCBI36]
Chr15:15q21.2-21.3		 pathogenic
GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1 copy number loss See cases [RCV000446622] Chr15:54713558..62769295 [GRCh37]
Chr15:15q21.3-22.2		 pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
NM_018365.4(MNS1):c.70A>G (p.Lys24Glu) single nucleotide variant Inborn genetic diseases [RCV003271966] Chr15:56464181 [GRCh38]
Chr15:56756379 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_018365.4(MNS1):c.263A>G (p.Lys88Arg) single nucleotide variant Inborn genetic diseases [RCV003297784] Chr15:56456484 [GRCh38]
Chr15:56748682 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_018365.4(MNS1):c.751G>C (p.Glu251Gln) single nucleotide variant Inborn genetic diseases [RCV003260113] Chr15:56443790 [GRCh38]
Chr15:56735988 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_018365.4(MNS1):c.722T>C (p.Met241Thr) single nucleotide variant Inborn genetic diseases [RCV003267732] Chr15:56443819 [GRCh38]
Chr15:56736017 [GRCh37]
Chr15:15q21.3		 likely benign
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
GRCh37/hg19 15q21.2-21.3(chr15:50727285-57603305)x3 copy number gain not provided [RCV000683691] Chr15:50727285..57603305 [GRCh37]
Chr15:15q21.2-21.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_018365.4(MNS1):c.1487G>T (p.Ter496Leu) single nucleotide variant MNS1-related condition [RCV003950780]|not provided [RCV000913166] Chr15:56429102 [GRCh38]
Chr15:56721300 [GRCh37]
Chr15:15q21.3		 benign
NM_018365.4(MNS1):c.452A>T (p.Gln151Leu) single nucleotide variant Inborn genetic diseases [RCV003244733] Chr15:56446845 [GRCh38]
Chr15:56739043 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_018365.4(MNS1):c.407_410del (p.Glu136fs) microsatellite Heterotaxy, visceral, 9, autosomal, with male infertility [RCV001254888]|Situs inversus [RCV000785879] Chr15:56446887..56446890 [GRCh38]
Chr15:56739085..56739088 [GRCh37]
Chr15:15q21.3		 pathogenic|likely pathogenic
GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3 copy number gain not provided [RCV000845891] Chr15:48000433..60747551 [GRCh37]
Chr15:15q21.1-22.2		 pathogenic
GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3 copy number gain not provided [RCV000849275] Chr15:49031132..56740397 [GRCh37]
Chr15:15q21.1-21.3		 pathogenic
NM_018365.4(MNS1):c.938G>A (p.Arg313His) single nucleotide variant Inborn genetic diseases [RCV003248250] Chr15:56443503 [GRCh38]
Chr15:56735701 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_018365.4(MNS1):c.724C>T (p.Arg242Ter) single nucleotide variant Heterotaxy, visceral, 9, autosomal, with male infertility [RCV001250274]|MNS1-related condition [RCV003405457]|not provided [RCV001879778] Chr15:56443817 [GRCh38]
Chr15:56736015 [GRCh37]
Chr15:15q21.3		 pathogenic|likely pathogenic
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
NM_018365.4(MNS1):c.164A>C (p.Gln55Pro) single nucleotide variant not provided [RCV001617844] Chr15:56464087 [GRCh38]
Chr15:56756285 [GRCh37]
Chr15:15q21.3		 benign
NM_018365.4(MNS1):c.1396-15G>A single nucleotide variant not provided [RCV001618112] Chr15:56429208 [GRCh38]
Chr15:56721406 [GRCh37]
Chr15:15q21.3		 benign
NM_018365.4(MNS1):c.539G>A (p.Arg180Gln) single nucleotide variant Inborn genetic diseases [RCV003259457] Chr15:56444591 [GRCh38]
Chr15:56736789 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_018365.4(MNS1):c.1405A>T (p.Lys469Ter) single nucleotide variant not provided [RCV001757348] Chr15:56429184 [GRCh38]
Chr15:56721382 [GRCh37]
Chr15:15q21.3		 uncertain significance
GRCh37/hg19 15q21.3(chr15:55772371-57880518)x1 copy number loss not provided [RCV001827704] Chr15:55772371..57880518 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_018365.4(MNS1):c.375G>T (p.Glu125Asp) single nucleotide variant Heterotaxy, visceral, 9, autosomal, with male infertility [RCV002289124] Chr15:56446922 [GRCh38]
Chr15:56739120 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_018365.4(MNS1):c.538C>T (p.Arg180Ter) single nucleotide variant Heterotaxy, visceral, 9, autosomal, with male infertility [RCV002289125] Chr15:56444592 [GRCh38]
Chr15:56736790 [GRCh37]
Chr15:15q21.3		 likely pathogenic
GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3 copy number gain not provided [RCV002472512] Chr15:48589845..63543438 [GRCh37]
Chr15:15q21.1-22.2		 pathogenic
NM_018365.4(MNS1):c.757G>T (p.Ala253Ser) single nucleotide variant Inborn genetic diseases [RCV002682574] Chr15:56443784 [GRCh38]
Chr15:56735982 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_018365.4(MNS1):c.934C>A (p.Gln312Lys) single nucleotide variant Inborn genetic diseases [RCV002729072] Chr15:56443507 [GRCh38]
Chr15:56735705 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_018365.4(MNS1):c.548C>T (p.Ala183Val) single nucleotide variant Inborn genetic diseases [RCV002924899] Chr15:56444582 [GRCh38]
Chr15:56736780 [GRCh37]
Chr15:15q21.3		 likely benign
NM_018365.4(MNS1):c.1301A>G (p.Gln434Arg) single nucleotide variant Inborn genetic diseases [RCV002660004] Chr15:56431467 [GRCh38]
Chr15:56723665 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_018365.4(MNS1):c.1399G>A (p.Val467Ile) single nucleotide variant Inborn genetic diseases [RCV002983309] Chr15:56429190 [GRCh38]
Chr15:56721388 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_018365.4(MNS1):c.289T>A (p.Leu97Met) single nucleotide variant Inborn genetic diseases [RCV002641859] Chr15:56456458 [GRCh38]
Chr15:56748656 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_018365.4(MNS1):c.574G>C (p.Glu192Gln) single nucleotide variant Inborn genetic diseases [RCV002981940] Chr15:56444556 [GRCh38]
Chr15:56736754 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_018365.4(MNS1):c.1414G>A (p.Asp472Asn) single nucleotide variant Inborn genetic diseases [RCV002804462] Chr15:56429175 [GRCh38]
Chr15:56721373 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_018365.4(MNS1):c.1306C>T (p.Arg436Trp) single nucleotide variant Inborn genetic diseases [RCV002987046] Chr15:56431462 [GRCh38]
Chr15:56723660 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_018365.4(MNS1):c.406G>C (p.Glu136Gln) single nucleotide variant Inborn genetic diseases [RCV002808517] Chr15:56446891 [GRCh38]
Chr15:56739089 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_018365.4(MNS1):c.937C>T (p.Arg313Cys) single nucleotide variant Inborn genetic diseases [RCV002648240] Chr15:56443504 [GRCh38]
Chr15:56735702 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_018365.4(MNS1):c.1204C>A (p.Leu402Met) single nucleotide variant Inborn genetic diseases [RCV002723252] Chr15:56434203 [GRCh38]
Chr15:56726401 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_018365.4(MNS1):c.1163G>A (p.Arg388Gln) single nucleotide variant Heterotaxy, visceral, 9, autosomal, with male infertility [RCV003333447] Chr15:56434244 [GRCh38]
Chr15:56726442 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_018365.4(MNS1):c.532G>T (p.Asp178Tyr) single nucleotide variant Inborn genetic diseases [RCV003345668] Chr15:56444598 [GRCh38]
Chr15:56736796 [GRCh37]
Chr15:15q21.3		 uncertain significance
GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1 copy number loss not provided [RCV003483230] Chr15:49390592..56800964 [GRCh37]
Chr15:15q21.1-21.3		 pathogenic
GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1 copy number loss not provided [RCV003483234] Chr15:54020810..62086530 [GRCh37]
Chr15:15q21.3-22.2		 pathogenic
NM_018365.4(MNS1):c.1348A>C (p.Lys450Gln) single nucleotide variant not provided [RCV003394874] Chr15:56431420 [GRCh38]
Chr15:56723618 [GRCh37]
Chr15:15q21.3		 likely benign
NM_018365.4(MNS1):c.353+3A>G single nucleotide variant MNS1-related condition [RCV003403103] Chr15:56456391 [GRCh38]
Chr15:56748589 [GRCh37]
Chr15:15q21.3		 uncertain significance
NM_018365.4(MNS1):c.675AGA[1] (p.Glu226del) microsatellite Heterotaxy, visceral, 9, autosomal, with male infertility [RCV003759898] Chr15:56444450..56444452 [GRCh38]
Chr15:56736648..56736650 [GRCh37]
Chr15:15q21.3		 likely pathogenic
NM_018365.4(MNS1):c.605dup (p.Gln203fs) duplication Heterotaxy, visceral, 9, autosomal, with male infertility [RCV003881707] Chr15:56444524..56444525 [GRCh38]
Chr15:56736722..56736723 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_018365.4(MNS1):c.68_69delinsAG (p.Cys23Ter) indel Heterotaxy, visceral, 9, autosomal, with male infertility [RCV003881708] Chr15:56464182..56464183 [GRCh38]
Chr15:56756380..56756381 [GRCh37]
Chr15:15q21.3		 pathogenic
NM_018365.4(MNS1):c.1274G>A (p.Arg425His) single nucleotide variant MNS1-related condition [RCV003934474] Chr15:56431494 [GRCh38]
Chr15:56723692 [GRCh37]
Chr15:15q21.3		 likely benign
NM_018365.4(MNS1):c.232G>T (p.Glu78Ter) single nucleotide variant MNS1-related condition [RCV003927321] Chr15:56456515 [GRCh38]
Chr15:56748713 [GRCh37]
Chr15:15q21.3		 likely pathogenic
NM_018365.4(MNS1):c.239A>G (p.Lys80Arg) single nucleotide variant not provided [RCV003885255] Chr15:56456508 [GRCh38]
Chr15:56748706 [GRCh37]
Chr15:15q21.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:437
Count of miRNA genes:389
Interacting mature miRNAs:409
Transcripts:ENST00000260453, ENST00000558694, ENST00000566386
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-80988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371556,754,897 - 56,755,209UniSTSGRCh37
Build 361554,542,189 - 54,542,501RGDNCBI36
Celera1533,643,941 - 33,644,253RGD
Cytogenetic Map15q21.3UniSTS
HuRef1533,578,030 - 33,578,342UniSTS
TNG Radiation Hybrid Map1519307.0UniSTS


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 56 4 68 29 102 32 90 24 526 159 638 231 5 1 30
Low 2282 2053 1471 428 1013 266 3900 1717 3168 256 820 1369 170 1 1187 2457 4 2
Below cutoff 98 613 185 165 510 165 364 454 40 4 2 13 16 300 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000260453   ⟹   ENSP00000260453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1556,428,724 - 56,465,137 (-)Ensembl
RefSeq Acc Id: ENST00000558694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1556,463,780 - 56,465,085 (-)Ensembl
RefSeq Acc Id: ENST00000566386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1556,421,544 - 56,434,207 (-)Ensembl
RefSeq Acc Id: NM_018365   ⟹   NP_060835
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381556,428,724 - 56,465,137 (-)NCBI
GRCh371556,720,929 - 56,757,335 (-)RGD
Build 361554,508,299 - 54,544,627 (-)NCBI Archive
Celera1533,609,956 - 33,646,382 (-)RGD
HuRef1533,544,043 - 33,580,471 (-)ENTREZGENE
CHM1_11556,839,205 - 56,875,585 (-)NCBI
T2T-CHM13v2.01554,231,531 - 54,267,997 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_060835   ⟸   NM_018365
- UniProtKB: Q8IYT6 (UniProtKB/Swiss-Prot),   Q9NUP4 (UniProtKB/Swiss-Prot),   Q8NEH6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000260453   ⟸   ENST00000260453
Protein Domains
Trichohyalin-plectin-homology

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NEH6-F1-model_v2 AlphaFold Q8NEH6 1-495 view protein structure

Promoters
RGD ID:6792457
Promoter ID:HG_KWN:21477
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:UC010BFO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361554,544,436 - 54,544,936 (-)MPROMDB
RGD ID:6792455
Promoter ID:HG_KWN:21478
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:NM_018365
Position:
Human AssemblyChrPosition (strand)Source
Build 361554,544,556 - 54,545,056 (-)MPROMDB
RGD ID:7229609
Promoter ID:EPDNEW_H20550
Type:initiation region
Name:MNS1_1
Description:meiosis specific nuclear structural 1
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
GRCh381556,465,137 - 56,465,197EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29636 AgrOrtholog
COSMIC MNS1 COSMIC
Ensembl Genes ENSG00000138587 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000260453 ENTREZGENE
  ENST00000260453.4 UniProtKB/Swiss-Prot
GTEx ENSG00000138587 GTEx
HGNC ID HGNC:29636 ENTREZGENE
Human Proteome Map MNS1 Human Proteome Map
InterPro MNS1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55329 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 55329 ENTREZGENE
OMIM 610766 OMIM
PANTHER MEIOSIS-SPECIFIC NUCLEAR STRUCTURAL PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR19265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TPH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671346 PharmGKB
UniProt B3KQ70_HUMAN UniProtKB/TrEMBL
  MNS1_HUMAN UniProtKB/Swiss-Prot
  Q8IYT6 ENTREZGENE
  Q8NEH6 ENTREZGENE
  Q9NUP4 ENTREZGENE
UniProt Secondary Q8IYT6 UniProtKB/Swiss-Prot
  Q9NUP4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 MNS1  meiosis specific nuclear structural 1  MNS1  meiosis-specific nuclear structural 1  Symbol and/or name change 5135510 APPROVED