GINS1 (GINS complex subunit 1) - Rat Genome Database

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Gene: GINS1 (GINS complex subunit 1) Homo sapiens
Analyze
Symbol: GINS1
Name: GINS complex subunit 1
RGD ID: 1605108
HGNC Page HGNC:28980
Description: Involved in DNA unwinding involved in DNA replication; positive regulation of DNA primase activity; and positive regulation of DNA-directed DNA polymerase activity. Located in CMG complex; GINS complex; and cytoplasm. Implicated in immunodeficiency 55.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DNA replication complex GINS protein PSF1; GINS complex subunit 1 (Psf1 homolog); IMD55; KIAA0186; partner of sld five-1; PSF1; RP4-691N24.2
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
GRCh382025,407,673 - 25,448,563 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2025,391,008 - 25,452,700 (+)EnsemblGRCh38hg38GRCh38
GRCh372025,388,309 - 25,429,199 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362025,336,323 - 25,377,191 (+)NCBINCBI36Build 36hg18NCBI36
Celera2025,462,070 - 25,502,910 (+)NCBICelera
Cytogenetic Map20p11.21NCBI
HuRef2025,345,645 - 25,386,888 (+)NCBIHuRef
CHM1_12025,388,730 - 25,429,596 (+)NCBICHM1_1
T2T-CHM13v2.02025,472,775 - 25,513,638 (+)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)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
5-fluorouracil  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
amiodarone  (EXP)
aristolochic acid  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (EXP,ISO)
Enterolactone  (EXP)
epoxiconazole  (ISO)
fenthion  (ISO)
flutamide  (ISO)
furan  (ISO)
genistein  (EXP)
isotretinoin  (EXP)
leflunomide  (EXP)
lidocaine  (ISO)
methidathion  (ISO)
methylparaben  (EXP)
N-Nitrosopyrrolidine  (EXP)
nickel sulfate  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
PCB138  (ISO)
perfluorononanoic acid  (EXP)
phenobarbital  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
potassium chromate  (EXP)
propanal  (EXP)
resveratrol  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sunitinib  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trimellitic anhydride  (ISO)
triptonide  (ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromosome  (IEA)
CMG complex  (IPI,ISS)
cytoplasm  (IDA,IEA)
GINS complex  (IBA,IEA,IPI)
nucleoplasm  (TAS)
nucleus  (IC,IDA,IEA)

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:8724849   PMID:10942595   PMID:11780052   PMID:12477932   PMID:15342556   PMID:15489334   PMID:16287864   PMID:17127213   PMID:17170760   PMID:17417653   PMID:17467990   PMID:19696745  
PMID:20103637   PMID:20679368   PMID:20825491   PMID:21705323   PMID:21713706   PMID:21873635   PMID:22001757   PMID:22474384   PMID:22939629   PMID:23390603   PMID:23629628   PMID:25049228  
PMID:26186194   PMID:26344197   PMID:27592030   PMID:28071757   PMID:28414293   PMID:28514442   PMID:30413605   PMID:30465075   PMID:31091453   PMID:32416067   PMID:33961781   PMID:33972684  
PMID:34048709   PMID:34195792   PMID:34373451   PMID:34852135   PMID:35545034   PMID:35831314   PMID:35896011  


Genomics

Comparative Map Data
GINS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382025,407,673 - 25,448,563 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2025,391,008 - 25,452,700 (+)EnsemblGRCh38hg38GRCh38
GRCh372025,388,309 - 25,429,199 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362025,336,323 - 25,377,191 (+)NCBINCBI36Build 36hg18NCBI36
Celera2025,462,070 - 25,502,910 (+)NCBICelera
Cytogenetic Map20p11.21NCBI
HuRef2025,345,645 - 25,386,888 (+)NCBIHuRef
CHM1_12025,388,730 - 25,429,596 (+)NCBICHM1_1
T2T-CHM13v2.02025,472,775 - 25,513,638 (+)NCBIT2T-CHM13v2.0
Gins1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392150,751,482 - 150,773,200 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2150,747,320 - 150,773,200 (+)EnsemblGRCm39 Ensembl
GRCm382150,909,556 - 150,931,280 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2150,905,400 - 150,931,280 (+)EnsemblGRCm38mm10GRCm38
MGSCv372150,735,330 - 150,757,016 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362150,596,841 - 150,622,721 (+)NCBIMGSCv36mm8
Celera2152,142,764 - 152,164,396 (+)NCBICelera
Cytogenetic Map2G3NCBI
Gins1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23139,724,513 - 139,745,930 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3139,724,490 - 139,745,936 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3143,620,798 - 143,642,222 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.03152,204,539 - 152,225,969 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.03149,953,061 - 149,974,539 (+)NCBIRnor_WKY
Rnor_6.03146,695,366 - 146,716,787 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3146,695,344 - 146,716,816 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03153,056,224 - 153,077,645 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43141,535,210 - 141,557,391 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera3138,486,128 - 138,506,715 (+)NCBICelera
Cytogenetic Map3q41NCBI
Gins1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541531,341,021 - 31,367,135 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541531,341,021 - 31,363,069 (+)NCBIChiLan1.0ChiLan1.0
GINS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12025,757,555 - 25,797,829 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2025,757,555 - 25,797,829 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02025,352,711 - 25,393,926 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
GINS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1231,567,723 - 1,598,910 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl231,567,825 - 1,590,464 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha231,597,240 - 1,636,505 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0231,808,093 - 1,847,392 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl231,808,143 - 1,831,086 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1231,648,965 - 1,688,237 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0231,773,410 - 1,812,684 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0231,740,946 - 1,780,245 (+)NCBIUU_Cfam_GSD_1.0
Gins1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640147,000,985 - 147,030,621 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936620421,845 - 446,853 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GINS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1731,060,650 - 31,080,314 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11731,060,540 - 31,076,807 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21735,279,497 - 35,296,360 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103216161
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1256,448,443 - 56,467,908 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl256,448,392 - 56,467,712 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660872,784,289 - 2,789,694 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gins1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624939176,929 - 205,642 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624939177,496 - 212,804 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
SHGC-52794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372025,399,737 - 25,399,969UniSTSGRCh37
Build 362025,347,737 - 25,347,969RGDNCBI36
Celera2025,473,484 - 25,473,716RGD
Cytogenetic Map20p11.21UniSTS
HuRef2025,357,059 - 25,357,291UniSTS
TNG Radiation Hybrid Map2013461.0UniSTS
GeneMap99-G3 RH Map201226.0UniSTS
RH38952  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372025,428,985 - 25,429,132UniSTSGRCh37
Build 362025,376,985 - 25,377,132RGDNCBI36
Celera2025,502,704 - 25,502,851RGD
Cytogenetic Map20p11.21UniSTS
HuRef2025,386,682 - 25,386,829UniSTS
RH25400  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372025,428,821 - 25,428,937UniSTSGRCh37
Build 362025,376,821 - 25,376,937RGDNCBI36
Celera2025,502,540 - 25,502,656RGD
Cytogenetic Map20p11.21UniSTS
HuRef2025,386,518 - 25,386,634UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1500
Count of miRNA genes:766
Interacting mature miRNAs:877
Transcripts:ENST00000262460, ENST00000429262, ENST00000473460, ENST00000481735, ENST00000484893
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 188 13 65 58 635 61 275 52 128 81 617 282 10 2
Low 1117 696 961 315 723 195 2471 220 2840 285 741 859 124 1 622 1450 4 1
Below cutoff 1132 2258 700 250 587 209 1594 1898 766 53 100 472 41 582 1321

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001410830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007067484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_244227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_937180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK294593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP290581 (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
  D80008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262460   ⟹   ENSP00000262460
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,407,673 - 25,448,563 (+)Ensembl
RefSeq Acc Id: ENST00000473460
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,413,457 - 25,417,246 (+)Ensembl
RefSeq Acc Id: ENST00000481735
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,443,024 - 25,452,700 (+)Ensembl
RefSeq Acc Id: ENST00000484893
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,407,731 - 25,446,153 (+)Ensembl
RefSeq Acc Id: ENST00000696793   ⟹   ENSP00000512875
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,407,729 - 25,448,104 (+)Ensembl
RefSeq Acc Id: ENST00000696798
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,407,676 - 25,413,933 (+)Ensembl
RefSeq Acc Id: ENST00000696803
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,407,769 - 25,425,318 (+)Ensembl
RefSeq Acc Id: ENST00000696804   ⟹   ENSP00000512884
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,407,686 - 25,446,091 (+)Ensembl
RefSeq Acc Id: ENST00000696805
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,407,698 - 25,425,230 (+)Ensembl
RefSeq Acc Id: ENST00000696806   ⟹   ENSP00000512885
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,407,611 - 25,449,072 (+)Ensembl
RefSeq Acc Id: ENST00000696807   ⟹   ENSP00000512886
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,407,685 - 25,448,546 (+)Ensembl
RefSeq Acc Id: ENST00000696808
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,423,505 - 25,448,525 (+)Ensembl
RefSeq Acc Id: ENST00000696810   ⟹   ENSP00000512888
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,391,008 - 25,447,400 (+)Ensembl
RefSeq Acc Id: ENST00000696813
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,407,729 - 25,448,247 (+)Ensembl
RefSeq Acc Id: ENST00000696814   ⟹   ENSP00000512895
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,407,729 - 25,448,462 (+)Ensembl
RefSeq Acc Id: ENST00000696862   ⟹   ENSP00000512935
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,407,683 - 25,448,531 (+)Ensembl
RefSeq Acc Id: ENST00000696870   ⟹   ENSP00000512939
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,407,685 - 25,447,373 (+)Ensembl
RefSeq Acc Id: ENST00000696874   ⟹   ENSP00000512943
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,407,685 - 25,448,541 (+)Ensembl
RefSeq Acc Id: ENST00000696875   ⟹   ENSP00000512944
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,407,707 - 25,448,541 (+)Ensembl
RefSeq Acc Id: ENST00000696876   ⟹   ENSP00000512945
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,407,709 - 25,448,518 (+)Ensembl
RefSeq Acc Id: ENST00000696877
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,407,729 - 25,446,964 (+)Ensembl
RefSeq Acc Id: ENST00000696878   ⟹   ENSP00000512946
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,407,729 - 25,448,418 (+)Ensembl
RefSeq Acc Id: ENST00000696893   ⟹   ENSP00000512955
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,407,688 - 25,448,563 (+)Ensembl
RefSeq Acc Id: ENST00000696894   ⟹   ENSP00000512956
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,407,702 - 25,448,563 (+)Ensembl
RefSeq Acc Id: ENST00000696895   ⟹   ENSP00000512957
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,407,739 - 25,448,533 (+)Ensembl
RefSeq Acc Id: ENST00000696896   ⟹   ENSP00000512958
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,417,141 - 25,448,435 (+)Ensembl
RefSeq Acc Id: NM_021067   ⟹   NP_066545
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382025,407,673 - 25,448,563 (+)NCBI
GRCh372025,388,323 - 25,429,191 (+)RGD
Build 362025,336,323 - 25,377,191 (+)NCBI Archive
Celera2025,462,070 - 25,502,910 (+)RGD
HuRef2025,345,645 - 25,386,888 (+)ENTREZGENE
CHM1_12025,388,726 - 25,429,596 (+)NCBI
T2T-CHM13v2.02025,472,775 - 25,513,638 (+)NCBI
Sequence:
RefSeq Acc Id: NR_134574
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382025,407,673 - 25,448,563 (+)NCBI
CHM1_12025,388,726 - 25,429,596 (+)NCBI
T2T-CHM13v2.02025,472,775 - 25,513,638 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028162   ⟹   XP_016883651
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382025,411,117 - 25,448,563 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047440625   ⟹   XP_047296581
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382025,407,673 - 25,425,291 (+)NCBI
RefSeq Acc Id: XM_047440626   ⟹   XP_047296582
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382025,407,673 - 25,448,563 (+)NCBI
RefSeq Acc Id: XM_047440627   ⟹   XP_047296583
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382025,407,673 - 25,448,563 (+)NCBI
RefSeq Acc Id: XR_007067484
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382025,407,673 - 25,425,291 (+)NCBI
RefSeq Acc Id: XR_244227
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382025,407,673 - 25,425,291 (+)NCBI
GRCh372025,388,323 - 25,429,191 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_066545   ⟸   NM_021067
- UniProtKB: Q9NQI7 (UniProtKB/Swiss-Prot),   Q14691 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016883651   ⟸   XM_017028162
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000262460   ⟸   ENST00000262460
RefSeq Acc Id: ENSP00000512955   ⟸   ENST00000696893
RefSeq Acc Id: ENSP00000512944   ⟸   ENST00000696875
RefSeq Acc Id: ENSP00000512885   ⟸   ENST00000696806
RefSeq Acc Id: ENSP00000512956   ⟸   ENST00000696894
RefSeq Acc Id: ENSP00000512946   ⟸   ENST00000696878
RefSeq Acc Id: ENSP00000512943   ⟸   ENST00000696874
RefSeq Acc Id: ENSP00000512895   ⟸   ENST00000696814
RefSeq Acc Id: ENSP00000512935   ⟸   ENST00000696862
RefSeq Acc Id: ENSP00000512939   ⟸   ENST00000696870
RefSeq Acc Id: ENSP00000512875   ⟸   ENST00000696793
RefSeq Acc Id: ENSP00000512884   ⟸   ENST00000696804
RefSeq Acc Id: ENSP00000512957   ⟸   ENST00000696895
RefSeq Acc Id: ENSP00000512888   ⟸   ENST00000696810
RefSeq Acc Id: ENSP00000512945   ⟸   ENST00000696876
RefSeq Acc Id: ENSP00000512958   ⟸   ENST00000696896
RefSeq Acc Id: ENSP00000512886   ⟸   ENST00000696807
RefSeq Acc Id: XP_047296582   ⟸   XM_047440626
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047296583   ⟸   XM_047440627
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047296581   ⟸   XM_047440625
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14691-F1-model_v2 AlphaFold Q14691 1-196 view protein structure

Promoters
RGD ID:6798794
Promoter ID:HG_KWN:38909
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_021067,   OTTHUMT00000078435
Position:
Human AssemblyChrPosition (strand)Source
Build 362025,336,121 - 25,336,621 (+)MPROMDB
RGD ID:13206579
Promoter ID:EPDNEW_H26870
Type:initiation region
Name:GINS1_1
Description:GINS complex subunit 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26869  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382025,407,729 - 25,407,789EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys) single nucleotide variant Combined immunodeficiency due to GINS1 deficiency [RCV000576879]|not provided [RCV001310458] Chr20:25418112 [GRCh38]
Chr20:25398748 [GRCh37]
Chr20:20p11.21
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
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 20p11.21(chr20:25089431-25492048)x3 copy number gain See cases [RCV000052764] Chr20:25089431..25492048 [GRCh38]
Chr20:25070067..25472684 [GRCh37]
Chr20:25018067..25420684 [NCBI36]
Chr20:20p11.21
uncertain significance
GRCh38/hg38 20p11.21(chr20:25099947-25468308)x3 copy number gain See cases [RCV000052765] Chr20:25099947..25468308 [GRCh38]
Chr20:25080583..25448944 [GRCh37]
Chr20:25028583..25396944 [NCBI36]
Chr20:20p11.21
uncertain significance
GRCh38/hg38 20p11.22-q11.1(chr20:22061586-30285812)x3 copy number gain See cases [RCV000053000] Chr20:22061586..30285812 [GRCh38]
Chr20:22042224..29520488 [GRCh37]
Chr20:21990224..28134149 [NCBI36]
Chr20:20p11.22-q11.1
pathogenic
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12
pathogenic
NM_021067.3(GINS1):c.415G>A (p.Asp139Asn) single nucleotide variant Malignant melanoma [RCV000072557] Chr20:25425295 [GRCh38]
Chr20:25405931 [GRCh37]
Chr20:25353931 [NCBI36]
Chr20:20p11.21
not provided
NM_021067.5(GINS1):c.-48C>G single nucleotide variant Combined immunodeficiency due to GINS1 deficiency [RCV000576873] Chr20:25407773 [GRCh38]
Chr20:25388409 [GRCh37]
Chr20:20p11.21
pathogenic
NM_021067.5(GINS1):c.194G>C (p.Arg65Pro) single nucleotide variant not provided [RCV001907547] Chr20:25417157 [GRCh38]
Chr20:25397793 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.273A>T (p.Arg91Ser) single nucleotide variant not provided [RCV001310459] Chr20:25418138 [GRCh38]
Chr20:25398774 [GRCh37]
Chr20:20p11.21
uncertain significance
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 20p13-11.1(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
GRCh38/hg38 20p11.21(chr20:25031679-25625520)x3 copy number gain See cases [RCV000143540] Chr20:25031679..25625520 [GRCh38]
Chr20:25012315..25606156 [GRCh37]
Chr20:24960315..25554156 [NCBI36]
Chr20:20p11.21
uncertain significance
GRCh37/hg19 20p11.21-11.1(chr20:25039251-26067042)x3 copy number gain See cases [RCV000240131] Chr20:25039251..26067042 [GRCh37]
Chr20:20p11.21-11.1
uncertain significance
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 20p12.1-q11.21(chr20:17705775-31600738)x3 copy number gain See cases [RCV000240436] Chr20:17705775..31600738 [GRCh37]
Chr20:20p12.1-q11.21
pathogenic
GRCh37/hg19 20p11.21(chr20:25061392-25468557)x3 copy number gain See cases [RCV000446220] Chr20:25061392..25468557 [GRCh37]
Chr20:20p11.21
uncertain significance
GRCh37/hg19 20p11.21(chr20:25061392-25482415)x3 copy number gain See cases [RCV000448276] Chr20:25061392..25482415 [GRCh37]
Chr20:20p11.21
uncertain significance
GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)x3 copy number gain See cases [RCV000448977] Chr20:24162775..31820857 [GRCh37]
Chr20:20p11.21-q11.21
likely 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 20p11.23-11.1(chr20:18500917-25847320)x1 copy number loss See cases [RCV000510621] Chr20:18500917..25847320 [GRCh37]
Chr20:20p11.23-11.1
pathogenic
NM_021067.5(GINS1):c.455G>A (p.Cys152Tyr) single nucleotide variant Combined immunodeficiency due to GINS1 deficiency [RCV000576872] Chr20:25441709 [GRCh38]
Chr20:25422345 [GRCh37]
Chr20:20p11.21
pathogenic|likely 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
NM_021067.5(GINS1):c.-60A>G single nucleotide variant Combined immunodeficiency due to GINS1 deficiency [RCV000576883] Chr20:25407761 [GRCh38]
Chr20:25388397 [GRCh37]
Chr20:20p11.21
pathogenic
GRCh37/hg19 20p11.21-q11.21(chr20:24876569-30494851)x3 copy number gain See cases [RCV000512500] Chr20:24876569..30494851 [GRCh37]
Chr20:20p11.21-q11.21
uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
Single allele duplication not provided [RCV000677978] Chr20:17705775..31600738 [GRCh37]
Chr20:20p12.1-q11.21
pathogenic
GRCh37/hg19 20p11.21(chr20:25061392-25482415)x3 copy number gain not provided [RCV000684116] Chr20:25061392..25482415 [GRCh37]
Chr20:20p11.21
uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p11.21-11.1(chr20:25402778-25635327)x1 copy number loss not provided [RCV000741158] Chr20:25402778..25635327 [GRCh37]
Chr20:20p11.21-11.1
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
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 20p11.21(chr20:24232978-25520939)x3 copy number gain not provided [RCV000847453] Chr20:24232978..25520939 [GRCh37]
Chr20:20p11.21
uncertain significance
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_021067.5(GINS1):c.52delinsCA (p.Glu18fs) indel Combined immunodeficiency due to GINS1 deficiency [RCV001253780] Chr20:25407872 [GRCh38]
Chr20:25388508 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.256C>T (p.Arg86Trp) single nucleotide variant Combined immunodeficiency due to GINS1 deficiency [RCV001253782] Chr20:25418121 [GRCh38]
Chr20:25398757 [GRCh37]
Chr20:20p11.21
uncertain significance
GRCh37/hg19 20p11.21(chr20:25295600-25397825)x1 copy number loss Intellectual disability [RCV001251059] Chr20:25295600..25397825 [GRCh37]
Chr20:20p11.21
uncertain significance
GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3 copy number gain not provided [RCV001258738] Chr20:19750804..30479077 [GRCh37]
Chr20:20p11.23-q11.21
likely pathogenic
GRCh37/hg19 20p11.21-11.1(chr20:25388830-25635771)x1 copy number loss not provided [RCV001258737] Chr20:25388830..25635771 [GRCh37]
Chr20:20p11.21-11.1
uncertain significance
NM_021067.5(GINS1):c.29T>G (p.Ile10Ser) single nucleotide variant not provided [RCV001310457] Chr20:25407849 [GRCh38]
Chr20:25388485 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.193C>T (p.Arg65Ter) single nucleotide variant not provided [RCV001326282] Chr20:25417156 [GRCh38]
Chr20:25397792 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.160G>A (p.Gly54Arg) single nucleotide variant not provided [RCV001318137] Chr20:25417123 [GRCh38]
Chr20:25397759 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.239+1G>T single nucleotide variant Combined immunodeficiency due to GINS1 deficiency [RCV001329206] Chr20:25417203 [GRCh38]
Chr20:25397839 [GRCh37]
Chr20:20p11.21
pathogenic
NM_021067.5(GINS1):c.163C>T (p.Arg55Ter) single nucleotide variant Combined immunodeficiency due to GINS1 deficiency [RCV001336533] Chr20:25417126 [GRCh38]
Chr20:25397762 [GRCh37]
Chr20:20p11.21
pathogenic
NM_021067.5(GINS1):c.289G>A (p.Val97Ile) single nucleotide variant Combined immunodeficiency due to GINS1 deficiency [RCV001702606]|not provided [RCV001521702] Chr20:25418154 [GRCh38]
Chr20:25398790 [GRCh37]
Chr20:20p11.21
benign
NM_021067.5(GINS1):c.516T>C (p.Asn172=) single nucleotide variant not provided [RCV001400704] Chr20:25441770 [GRCh38]
Chr20:25422406 [GRCh37]
Chr20:20p11.21
likely benign
NM_021067.5(GINS1):c.240-13C>T single nucleotide variant not provided [RCV001446891] Chr20:25418092 [GRCh38]
Chr20:25398728 [GRCh37]
Chr20:20p11.21
likely benign
NM_021067.5(GINS1):c.76-15G>A single nucleotide variant not provided [RCV001481740] Chr20:25413775 [GRCh38]
Chr20:25394411 [GRCh37]
Chr20:20p11.21
likely benign
NM_021067.5(GINS1):c.104A>G (p.Glu35Gly) single nucleotide variant not provided [RCV001516183] Chr20:25413818 [GRCh38]
Chr20:25394454 [GRCh37]
Chr20:20p11.21
benign
GRCh37/hg19 20p11.21(chr20:25371149-25507223)x1 copy number loss not provided [RCV001727207] Chr20:25371149..25507223 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.106A>G (p.Met36Val) single nucleotide variant not provided [RCV001929906] Chr20:25413820 [GRCh38]
Chr20:25394456 [GRCh37]
Chr20:20p11.21
uncertain significance
GRCh37/hg19 20p11.21(chr20:25061392-25482415) copy number gain not specified [RCV002052708] Chr20:25061392..25482415 [GRCh37]
Chr20:20p11.21
uncertain significance
NC_000020.10:g.(?_25371129)_(25426627_?)dup duplication not provided [RCV001988141] Chr20:25371129..25426627 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.536G>A (p.Arg179Gln) single nucleotide variant not provided [RCV002009299] Chr20:25445936 [GRCh38]
Chr20:25426572 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.281A>G (p.Tyr94Cys) single nucleotide variant not provided [RCV002045364] Chr20:25418146 [GRCh38]
Chr20:25398782 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.365_366insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGATCTCTTGC (p.Ala122_Thr123insAlaGlyArgGlyGlySerArgLeuTer) microsatellite not provided [RCV001889490] Chr20:25425231..25425232 [GRCh38]
Chr20:25405867..25405868 [GRCh37]
Chr20:20p11.21
uncertain significance
GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857) copy number gain not specified [RCV002052707] Chr20:24162775..31820857 [GRCh37]
Chr20:20p11.21-q11.21
likely pathogenic
NM_021067.5(GINS1):c.158G>A (p.Gly53Asp) single nucleotide variant not provided [RCV001910597] Chr20:25417121 [GRCh38]
Chr20:25397757 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.331-3C>T single nucleotide variant not provided [RCV001947667] Chr20:25425208 [GRCh38]
Chr20:25405844 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.515dup (p.Asn172fs) duplication not provided [RCV002022303] Chr20:25441760..25441761 [GRCh38]
Chr20:25422396..25422397 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.220C>T (p.Arg74Cys) single nucleotide variant not provided [RCV001892125] Chr20:25417183 [GRCh38]
Chr20:25397819 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.328G>A (p.Glu110Lys) single nucleotide variant not provided [RCV001965109] Chr20:25418193 [GRCh38]
Chr20:25398829 [GRCh37]
Chr20:20p11.21
uncertain significance
GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3 copy number gain not provided [RCV001829151] Chr20:18665879..33903216 [GRCh37]
Chr20:20p11.23-q11.22
likely pathogenic
NM_021067.5(GINS1):c.141G>A (p.Val47=) single nucleotide variant not provided [RCV002005479] Chr20:25417104 [GRCh38]
Chr20:25397740 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.164G>A (p.Arg55Gln) single nucleotide variant not provided [RCV002014175] Chr20:25417127 [GRCh38]
Chr20:25397763 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.141-9T>G single nucleotide variant not provided [RCV002017548] Chr20:25417095 [GRCh38]
Chr20:25397731 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.464A>G (p.Asp155Gly) single nucleotide variant not provided [RCV001991273] Chr20:25441718 [GRCh38]
Chr20:25422354 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.436C>G (p.Leu146Val) single nucleotide variant not provided [RCV001942859] Chr20:25425316 [GRCh38]
Chr20:25405952 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.143A>G (p.Asn48Ser) single nucleotide variant not provided [RCV001879335] Chr20:25417106 [GRCh38]
Chr20:25397742 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.535C>G (p.Arg179Gly) single nucleotide variant not provided [RCV002036900] Chr20:25445935 [GRCh38]
Chr20:25426571 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.368C>G (p.Thr123Ser) single nucleotide variant not provided [RCV001898160] Chr20:25425248 [GRCh38]
Chr20:25405884 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.418A>T (p.Met140Leu) single nucleotide variant not provided [RCV001898358] Chr20:25425298 [GRCh38]
Chr20:25405934 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.404A>G (p.Asp135Gly) single nucleotide variant not provided [RCV001899098] Chr20:25425284 [GRCh38]
Chr20:25405920 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.457C>A (p.Leu153Ile) single nucleotide variant not provided [RCV001939032] Chr20:25441711 [GRCh38]
Chr20:25422347 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.477T>G (p.Phe159Leu) single nucleotide variant not provided [RCV002033591] Chr20:25441731 [GRCh38]
Chr20:25422367 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.238C>T (p.Leu80=) single nucleotide variant not provided [RCV001999030] Chr20:25417201 [GRCh38]
Chr20:25397837 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.447+7A>G single nucleotide variant not provided [RCV002169711] Chr20:25425334 [GRCh38]
Chr20:25405970 [GRCh37]
Chr20:20p11.21
likely benign
NM_021067.5(GINS1):c.447+12T>G single nucleotide variant not provided [RCV002145894] Chr20:25425339 [GRCh38]
Chr20:25405975 [GRCh37]
Chr20:20p11.21
likely benign
NM_021067.5(GINS1):c.448-13T>A single nucleotide variant not provided [RCV002145516] Chr20:25441689 [GRCh38]
Chr20:25422325 [GRCh37]
Chr20:20p11.21
likely benign
NM_021067.5(GINS1):c.76-17C>T single nucleotide variant not provided [RCV002167360] Chr20:25413773 [GRCh38]
Chr20:25394409 [GRCh37]
Chr20:20p11.21
likely benign
NM_021067.5(GINS1):c.76-18T>C single nucleotide variant not provided [RCV002193335] Chr20:25413772 [GRCh38]
Chr20:25394408 [GRCh37]
Chr20:20p11.21
likely benign
NM_021067.5(GINS1):c.252G>A (p.Leu84=) single nucleotide variant not provided [RCV002107969] Chr20:25418117 [GRCh38]
Chr20:25398753 [GRCh37]
Chr20:20p11.21
likely benign
NM_021067.5(GINS1):c.76-16G>A single nucleotide variant not provided [RCV002152054] Chr20:25413774 [GRCh38]
Chr20:25394410 [GRCh37]
Chr20:20p11.21
likely benign
NM_021067.5(GINS1):c.330+17dup duplication not provided [RCV002178986] Chr20:25418211..25418212 [GRCh38]
Chr20:25398847..25398848 [GRCh37]
Chr20:20p11.21
likely benign
NM_021067.5(GINS1):c.175A>T (p.Ile59Leu) single nucleotide variant See cases [RCV002252494] Chr20:25417138 [GRCh38]
Chr20:25397774 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_021067.5(GINS1):c.448-19C>T single nucleotide variant not provided [RCV002161080] Chr20:25441683 [GRCh38]
Chr20:25422319 [GRCh37]
Chr20:20p11.21
likely benign
NM_021067.5(GINS1):c.288C>T (p.Ser96=) single nucleotide variant not provided [RCV002175628] Chr20:25418153 [GRCh38]
Chr20:25398789 [GRCh37]
Chr20:20p11.21
likely benign
NM_021067.5(GINS1):c.81T>C (p.Asp27=) single nucleotide variant not provided [RCV002198832] Chr20:25413795 [GRCh38]
Chr20:25394431 [GRCh37]
Chr20:20p11.21
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28980 AgrOrtholog
COSMIC GINS1 COSMIC
Ensembl Genes ENSG00000101003 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000262460 ENTREZGENE
  ENSP00000262460.4 UniProtKB/Swiss-Prot
  ENSP00000512869 ENTREZGENE
  ENSP00000512884 ENTREZGENE
  ENSP00000512885 ENTREZGENE
Ensembl Transcript ENST00000262460 ENTREZGENE
  ENST00000262460.5 UniProtKB/Swiss-Prot
  ENST00000484893 ENTREZGENE
  ENST00000696793 ENTREZGENE
  ENST00000696804 ENTREZGENE
  ENST00000696806 ENTREZGENE
GTEx ENSG00000101003 GTEx
HGNC ID HGNC:28980 ENTREZGENE
Human Proteome Map GINS1 Human Proteome Map
InterPro GINS_bundle-like_dom_sf UniProtKB/Swiss-Prot
  GINS_Psf1 UniProtKB/Swiss-Prot
KEGG Report hsa:9837 UniProtKB/Swiss-Prot
NCBI Gene 9837 ENTREZGENE
OMIM 610608 OMIM
  617827 OMIM
PANTHER PTHR12914 UniProtKB/Swiss-Prot
PharmGKB PA145008291 PharmGKB
Superfamily-SCOP SSF158573 UniProtKB/Swiss-Prot
UniProt L8ECJ2_HUMAN UniProtKB/TrEMBL
  PSF1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9NQI7 ENTREZGENE
UniProt Secondary Q9NQE2 UniProtKB/Swiss-Prot
  Q9NQI7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 GINS1  GINS complex subunit 1    GINS complex subunit 1 (Psf1 homolog)  Symbol and/or name change 5135510 APPROVED
2011-09-01 GINS1  GINS complex subunit 1 (Psf1 homolog)  GINS1  GINS complex subunit 1 (Psf1 homolog)  Symbol and/or name change 5135510 APPROVED