PIAS1 (protein inhibitor of activated STAT 1) - Rat Genome Database

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Gene: PIAS1 (protein inhibitor of activated STAT 1) Homo sapiens
Analyze
Symbol: PIAS1
Name: protein inhibitor of activated STAT 1
RGD ID: 1317273
HGNC Page HGNC:2752
Description: Enables SUMO ligase activity and enzyme binding activity. Involved in positive regulation of protein sumoylation and protein sumoylation. Located in nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AR interacting protein; DDXBP1; DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1; DEAD/H box-binding protein 1; E3 SUMO-protein ligase PIAS1; E3 SUMO-protein transferase PIAS1; GBP; gu-binding protein; GU/RH-II; MGC141878; MGC141879; protein inhibitor of activated STAT protein 1; protein inhibitor of activated STAT-1; RNA helicase II-binding protein; zinc finger, MIZ-type containing 3; ZMIZ3
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
GRCh381568,054,315 - 68,193,847 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1568,054,309 - 68,198,603 (+)EnsemblGRCh38hg38GRCh38
GRCh371568,346,653 - 68,486,185 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361566,133,626 - 66,267,467 (+)NCBINCBI36Build 36hg18NCBI36
Build 341566,133,625 - 66,267,456NCBI
Celera1545,234,605 - 45,365,328 (+)NCBICelera
Cytogenetic Map15q23NCBI
HuRef1545,180,222 - 45,311,150 (+)NCBIHuRef
CHM1_11568,465,362 - 68,598,367 (+)NCBICHM1_1
T2T-CHM13v2.01565,875,930 - 66,012,597 (+)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)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
amitrole  (ISO)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bilirubin IXalpha  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
chlorpromazine  (ISO)
choline  (ISO)
clofibric acid  (ISO)
clotrimazole  (ISO)
colforsin daropate hydrochloride  (EXP)
coumarin  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dichloromethane  (ISO)
dorsomorphin  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
inulin  (ISO)
L-methionine  (ISO)
lipopolysaccharide  (ISO)
manganese(II) chloride  (ISO)
methidathion  (ISO)
methylmercury chloride  (EXP)
motexafin gadolinium  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
oxaliplatin  (ISO)
oxybenzone  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
propiconazole  (ISO)
rifampicin  (EXP)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium arsenate  (ISO)
sulfadimethoxine  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
theophylline  (EXP)
topotecan  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
urethane  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
zinc acetate  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Expression of JAKs/STATs pathway molecules in rat model of rapid focal segmental glomerulosclerosis. Liang Y, etal., Pediatr Nephrol. 2009 Sep;24(9):1661-71. doi: 10.1007/s00467-009-1163-4. Epub 2009 Apr 7.
3. Push back to respond better: regulatory inhibition of the DNA double-strand break response. Panier S and Durocher D, Nat Rev Mol Cell Biol. 2013 Oct;14(10):661-72. doi: 10.1038/nrm3659. Epub 2013 Sep 4.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. Melatonin attenuates brain contusion-induced oxidative insult, inactivation of signal transducers and activators of transcription 1, and upregulation of suppressor of cytokine signaling-3 in rats. Tsai MC, etal., J Pineal Res. 2011 Sep;51(2):233-45. doi: 10.1111/j.1600-079X.2011.00885.x. Epub 2011 May 4.
8. JAK/STAT signal transduction: regulators and implication in hematological malignancies. Valentino L and Pierre J, Biochem Pharmacol. 2006 Mar 14;71(6):713-21. Epub 2006 Jan 19.
9. Inhibitors of cytokine signal transduction. Wormald S and Hilton DJ, J Biol Chem 2004 Jan 9;279(2):821-4. Epub 2003 Nov 7.
10. Interactions of the mineralocorticoid receptor--within and without. Yang J and Fuller PJ, Mol Cell Endocrinol. 2012 Mar 24;350(2):196-205. doi: 10.1016/j.mce.2011.07.001. Epub 2011 Jul 18.
Additional References at PubMed
PMID:9177271   PMID:9724754   PMID:10380882   PMID:10628744   PMID:10805787   PMID:11117529   PMID:11257227   PMID:11439351   PMID:11451946   PMID:11583632   PMID:11672422   PMID:11716541  
PMID:11788578   PMID:11867732   PMID:11877418   PMID:12171910   PMID:12177000   PMID:12223491   PMID:12356736   PMID:12393906   PMID:12477932   PMID:12855578   PMID:14500712   PMID:14500761  
PMID:14609633   PMID:14611647   PMID:14701874   PMID:14702039   PMID:14752048   PMID:15028714   PMID:15123615   PMID:15133049   PMID:15192080   PMID:15208321   PMID:15231748   PMID:15280358  
PMID:15337742   PMID:15489334   PMID:15561718   PMID:15572661   PMID:15572666   PMID:15572677   PMID:15580297   PMID:15588942   PMID:15611122   PMID:15657437   PMID:15666801   PMID:15666827  
PMID:15782135   PMID:15901746   PMID:15907835   PMID:15957955   PMID:15961505   PMID:16029420   PMID:16127449   PMID:16135793   PMID:16144832   PMID:16148010   PMID:16154161   PMID:16421255  
PMID:16522640   PMID:16524884   PMID:16563226   PMID:16600910   PMID:16679534   PMID:17081983   PMID:17087506   PMID:17159996   PMID:17283066   PMID:17369852   PMID:17371985   PMID:17509614  
PMID:17533377   PMID:17540171   PMID:17606919   PMID:17696781   PMID:17934332   PMID:18157088   PMID:18190974   PMID:18211901   PMID:18408014   PMID:18566411   PMID:18579533   PMID:18624398  
PMID:18656483   PMID:18660489   PMID:18806873   PMID:19074829   PMID:19217413   PMID:19218564   PMID:19288270   PMID:19394292   PMID:19526197   PMID:19604093   PMID:19692572   PMID:19744555  
PMID:19766626   PMID:19843541   PMID:19906316   PMID:19965618   PMID:20016594   PMID:20016603   PMID:20159969   PMID:20203086   PMID:20209145   PMID:20351170   PMID:20471636   PMID:20711444  
PMID:20805487   PMID:20936779   PMID:20966256   PMID:20972456   PMID:21338522   PMID:21445096   PMID:21467194   PMID:21527249   PMID:21676946   PMID:21717107   PMID:21873635   PMID:21911577  
PMID:21925039   PMID:21965678   PMID:21988832   PMID:22162396   PMID:22283414   PMID:22321011   PMID:22406621   PMID:22449952   PMID:22539995   PMID:22555612   PMID:22578841   PMID:22661230  
PMID:22969086   PMID:22972521   PMID:22976298   PMID:22990118   PMID:23032264   PMID:23080069   PMID:23202365   PMID:23240041   PMID:23275563   PMID:23377640   PMID:23443559   PMID:23472246  
PMID:23667531   PMID:24036127   PMID:24046452   PMID:24052079   PMID:24174529   PMID:24244371   PMID:24369422   PMID:24515614   PMID:24586797   PMID:24872413   PMID:24911587   PMID:25050850  
PMID:25241761   PMID:25447205   PMID:25474038   PMID:25552417   PMID:25557546   PMID:25880753   PMID:25895136   PMID:26157031   PMID:26219822   PMID:26253534   PMID:26257066   PMID:26275350  
PMID:26403403   PMID:26450775   PMID:26496610   PMID:27032383   PMID:27068747   PMID:27099310   PMID:27107012   PMID:27146268   PMID:27211601   PMID:27239040   PMID:27276529   PMID:27485016  
PMID:27703003   PMID:27811911   PMID:28493978   PMID:28514442   PMID:28571744   PMID:28620180   PMID:28622293   PMID:28680062   PMID:28805822   PMID:28842558   PMID:29180619   PMID:29262325  
PMID:29395067   PMID:29643511   PMID:29848755   PMID:30217970   PMID:30297842   PMID:30419807   PMID:30612578   PMID:30686591   PMID:30861611   PMID:30982983   PMID:31084243   PMID:31125786  
PMID:31182584   PMID:31470122   PMID:31527615   PMID:31752909   PMID:31870601   PMID:32047143   PMID:32350109   PMID:32416067   PMID:32493705   PMID:32545337   PMID:32694731   PMID:32770107  
PMID:32814053   PMID:32891193   PMID:32900933   PMID:33468657   PMID:33729478   PMID:33759814   PMID:33763841   PMID:34079125   PMID:34147029   PMID:34187905   PMID:34537242   PMID:34795231  
PMID:34857952   PMID:34951052   PMID:35007836   PMID:35044719   PMID:35061896   PMID:35140242   PMID:35182466   PMID:35198878   PMID:35271311   PMID:35785414   PMID:35914814   PMID:36050397  
PMID:36089195   PMID:36594163   PMID:36706181   PMID:36880596   PMID:37071664   PMID:37664931   PMID:37689310   PMID:38102979   PMID:38190100   PMID:38297188  


Genomics

Comparative Map Data
PIAS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381568,054,315 - 68,193,847 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1568,054,309 - 68,198,603 (+)EnsemblGRCh38hg38GRCh38
GRCh371568,346,653 - 68,486,185 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361566,133,626 - 66,267,467 (+)NCBINCBI36Build 36hg18NCBI36
Build 341566,133,625 - 66,267,456NCBI
Celera1545,234,605 - 45,365,328 (+)NCBICelera
Cytogenetic Map15q23NCBI
HuRef1545,180,222 - 45,311,150 (+)NCBIHuRef
CHM1_11568,465,362 - 68,598,367 (+)NCBICHM1_1
T2T-CHM13v2.01565,875,930 - 66,012,597 (+)NCBIT2T-CHM13v2.0
Pias1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39962,785,648 - 62,888,161 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl962,785,650 - 62,895,206 (-)EnsemblGRCm39 Ensembl
GRCm38962,878,366 - 62,980,879 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl962,878,368 - 62,987,924 (-)EnsemblGRCm38mm10GRCm38
MGSCv37962,727,884 - 62,828,686 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36962,678,083 - 62,778,885 (-)NCBIMGSCv36mm8
Celera960,099,154 - 60,199,601 (-)NCBICelera
Cytogenetic Map9BNCBI
cM Map933.91NCBI
Pias1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8872,233,566 - 72,347,085 (-)NCBIGRCr8
mRatBN7.2863,338,150 - 63,451,670 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl863,338,150 - 63,438,905 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx868,853,069 - 68,953,867 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0867,125,523 - 67,226,318 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0864,995,537 - 65,096,314 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0867,771,720 - 67,869,015 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl867,771,720 - 67,869,019 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0867,500,467 - 67,597,762 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4867,025,248 - 67,123,016 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1867,044,301 - 67,142,058 (-)NCBI
Celera862,756,508 - 62,854,013 (-)NCBICelera
Cytogenetic Map8q24NCBI
Pias1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554507,896,741 - 7,991,027 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554507,896,741 - 7,991,045 (-)NCBIChiLan1.0ChiLan1.0
PIAS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21657,310,791 - 57,445,115 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11561,484,619 - 61,618,957 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01547,006,718 - 47,141,035 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11565,276,530 - 65,410,105 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1565,276,530 - 65,410,105 (+)Ensemblpanpan1.1panPan2
PIAS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13032,116,363 - 32,232,530 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3032,119,311 - 32,228,945 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3032,050,874 - 32,167,015 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03032,312,019 - 32,428,219 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3032,314,211 - 32,424,739 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13032,240,403 - 32,356,487 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03032,302,308 - 32,418,433 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03032,548,145 - 32,664,285 (+)NCBIUU_Cfam_GSD_1.0
Pias1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640110,076,935 - 110,207,569 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647127,925,153 - 28,055,632 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647127,925,153 - 28,055,632 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PIAS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1165,957,132 - 166,087,239 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11165,957,114 - 166,087,242 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21183,734,088 - 183,951,464 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PIAS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12615,294,296 - 15,432,731 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2615,297,934 - 15,432,659 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048126,035,605 - 126,174,441 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pias1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247814,893,308 - 5,046,582 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247814,893,308 - 5,046,928 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PIAS1
51 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q22.33-23(chr15:67194581-69086285)x1 copy number loss See cases [RCV000053218] Chr15:67194581..69086285 [GRCh38]
Chr15:67486919..69378625 [GRCh37]
Chr15:65273973..67165679 [NCBI36]
Chr15:15q22.33-23		 pathogenic
NM_016166.3(PIAS1):c.317C>T (p.Ser106Leu) single nucleotide variant Nephronophthisis [RCV000662276] Chr15:68086598 [GRCh38]
Chr15:68378936 [GRCh37]
Chr15:15q23		 likely pathogenic
GRCh38/hg38 15q23(chr15:67933759-68766493)x3 copy number gain See cases [RCV000139136] Chr15:67933759..68766493 [GRCh38]
Chr15:68226097..69058832 [GRCh37]
Chr15:66013151..66845886 [NCBI36]
Chr15:15q23		 likely benign
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3		 pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3		 likely 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_016166.3(PIAS1):c.1679T>C (p.Leu560Ser) single nucleotide variant Inborn genetic diseases [RCV003271665] Chr15:68187558 [GRCh38]
Chr15:68479896 [GRCh37]
Chr15:15q23		 uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
GRCh37/hg19 15q22.31-23(chr15:66861081-69213575)x1 copy number loss not provided [RCV000683701] Chr15:66861081..69213575 [GRCh37]
Chr15:15q22.31-23		 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
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
NM_016166.3(PIAS1):c.1624+198T>C single nucleotide variant not provided [RCV001534809] Chr15:68181552 [GRCh38]
Chr15:68473890 [GRCh37]
Chr15:15q23		 benign
NC_000015.10:g.68054211T>C single nucleotide variant not provided [RCV001693038] Chr15:68054211 [GRCh38]
Chr15:68346549 [GRCh37]
Chr15:15q23		 benign
NM_016166.3(PIAS1):c.237C>T (p.Asn79=) single nucleotide variant not provided [RCV000970282] Chr15:68086518 [GRCh38]
Chr15:68378856 [GRCh37]
Chr15:15q23		 benign
GRCh37/hg19 15q22.33-23(chr15:67369118-70481307)x1 copy number loss not provided [RCV000846047] Chr15:67369118..70481307 [GRCh37]
Chr15:15q22.33-23		 pathogenic
GRCh37/hg19 15q23(chr15:68168040-68348801)x1 copy number loss not provided [RCV001006707] Chr15:68168040..68348801 [GRCh37]
Chr15:15q23		 uncertain significance
NM_016166.3(PIAS1):c.1074C>T (p.Asp358=) single nucleotide variant not provided [RCV003105101] Chr15:68173797 [GRCh38]
Chr15:68466135 [GRCh37]
Chr15:15q23		 likely benign
NM_016166.3(PIAS1):c.1170-215G>C single nucleotide variant not provided [RCV001666258] Chr15:68175422 [GRCh38]
Chr15:68467760 [GRCh37]
Chr15:15q23		 benign
NM_016166.3(PIAS1):c.396C>G (p.Val132=) single nucleotide variant not provided [RCV000964005] Chr15:68086677 [GRCh38]
Chr15:68379015 [GRCh37]
Chr15:15q23		 benign
NM_016166.3(PIAS1):c.78C>T (p.Ala26=) single nucleotide variant not provided [RCV000889055] Chr15:68086359 [GRCh38]
Chr15:68378697 [GRCh37]
Chr15:15q23		 benign
NM_016166.3(PIAS1):c.829-16T>A single nucleotide variant not provided [RCV001641437] Chr15:68153574 [GRCh38]
Chr15:68445912 [GRCh37]
Chr15:15q23		 benign
NM_016166.3(PIAS1):c.470-185_470-183del deletion not provided [RCV001595654] Chr15:68141759..68141761 [GRCh38]
Chr15:68434097..68434099 [GRCh37]
Chr15:15q23		 benign
NM_016166.3(PIAS1):c.470-72_470-71insG insertion not provided [RCV001691022] Chr15:68141874..68141875 [GRCh38]
Chr15:68434212..68434213 [GRCh37]
Chr15:15q23		 benign
NM_016166.3(PIAS1):c.1009-58C>T single nucleotide variant not provided [RCV001681751] Chr15:68173674 [GRCh38]
Chr15:68466012 [GRCh37]
Chr15:15q23		 benign
NM_016166.3(PIAS1):c.1624+116G>A single nucleotide variant not provided [RCV001714170] Chr15:68181470 [GRCh38]
Chr15:68473808 [GRCh37]
Chr15:15q23		 benign
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_016166.3(PIAS1):c.1301-117T>C single nucleotide variant not provided [RCV001643561] Chr15:68176357 [GRCh38]
Chr15:68468695 [GRCh37]
Chr15:15q23		 benign
NM_016166.3(PIAS1):c.693+166C>A single nucleotide variant not provided [RCV001690861] Chr15:68146072 [GRCh38]
Chr15:68438410 [GRCh37]
Chr15:15q23		 benign
NM_016166.3(PIAS1):c.829-176G>A single nucleotide variant not provided [RCV001693431] Chr15:68153414 [GRCh38]
Chr15:68445752 [GRCh37]
Chr15:15q23		 benign
GRCh37/hg19 15q23(chr15:68243109-68780504)x1 copy number loss not provided [RCV001833040] Chr15:68243109..68780504 [GRCh37]
Chr15:15q23		 uncertain significance
NC_000015.9:g.(?_66161924)_(69018313_?)dup duplication Neuronal ceroid lipofuscinosis [RCV003120802]|not provided [RCV002045713] Chr15:66161924..69018313 [GRCh37]
Chr15:15q22.31-23		 uncertain significance|no classifications from unflagged records
NM_016166.3(PIAS1):c.1640_1644del (p.Pro547fs) microsatellite not provided [RCV001966554] Chr15:68183640..68183644 [GRCh38]
Chr15:68475978..68475982 [GRCh37]
Chr15:15q23		 uncertain significance
NM_016166.3(PIAS1):c.1874A>G (p.His625Arg) single nucleotide variant not provided [RCV001999519] Chr15:68187753 [GRCh38]
Chr15:68480091 [GRCh37]
Chr15:15q23		 uncertain significance
NM_016166.3(PIAS1):c.1588C>G (p.Pro530Ala) single nucleotide variant not provided [RCV001991476] Chr15:68181318 [GRCh38]
Chr15:68473656 [GRCh37]
Chr15:15q23		 uncertain significance
NM_016166.3(PIAS1):c.1730C>T (p.Ser577Leu) single nucleotide variant not provided [RCV001933265] Chr15:68187609 [GRCh38]
Chr15:68479947 [GRCh37]
Chr15:15q23		 uncertain significance
NM_016166.3(PIAS1):c.312A>C (p.Ala104=) single nucleotide variant not provided [RCV002205084] Chr15:68086593 [GRCh38]
Chr15:68378931 [GRCh37]
Chr15:15q23		 likely benign
NM_016166.3(PIAS1):c.318G>A (p.Ser106=) single nucleotide variant not provided [RCV002206833] Chr15:68086599 [GRCh38]
Chr15:68378937 [GRCh37]
Chr15:15q23		 benign
NM_016166.3(PIAS1):c.402G>A (p.Pro134=) single nucleotide variant not provided [RCV002105936] Chr15:68086683 [GRCh38]
Chr15:68379021 [GRCh37]
Chr15:15q23		 likely benign
NM_016166.3(PIAS1):c.999A>G (p.Leu333=) single nucleotide variant not provided [RCV002195129] Chr15:68164795 [GRCh38]
Chr15:68457133 [GRCh37]
Chr15:15q23		 likely benign
NM_016166.3(PIAS1):c.693+23dup duplication not provided [RCV002108684] Chr15:68145923..68145924 [GRCh38]
Chr15:68438261..68438262 [GRCh37]
Chr15:15q23		 benign
NM_016166.3(PIAS1):c.1293A>G (p.Gly431=) single nucleotide variant not provided [RCV002192797] Chr15:68175760 [GRCh38]
Chr15:68468098 [GRCh37]
Chr15:15q23		 benign
NM_016166.3(PIAS1):c.1300+19G>A single nucleotide variant not provided [RCV002212757] Chr15:68175786 [GRCh38]
Chr15:68468124 [GRCh37]
Chr15:15q23		 benign
NM_016166.3(PIAS1):c.1481+28dup duplication not provided [RCV002116694] Chr15:68176672..68176673 [GRCh38]
Chr15:68469010..68469011 [GRCh37]
Chr15:15q23		 benign
NM_016166.3(PIAS1):c.829-5dup duplication not provided [RCV002138451] Chr15:68153576..68153577 [GRCh38]
Chr15:68445914..68445915 [GRCh37]
Chr15:15q23		 benign
NM_016166.3(PIAS1):c.470-8T>G single nucleotide variant not provided [RCV002164367] Chr15:68141938 [GRCh38]
Chr15:68434276 [GRCh37]
Chr15:15q23		 benign
NM_016166.3(PIAS1):c.1334C>T (p.Ala445Val) single nucleotide variant not provided [RCV002162294] Chr15:68176507 [GRCh38]
Chr15:68468845 [GRCh37]
Chr15:15q23		 likely benign
NM_016166.3(PIAS1):c.554+11G>C single nucleotide variant not provided [RCV002139965] Chr15:68142041 [GRCh38]
Chr15:68434379 [GRCh37]
Chr15:15q23		 benign
NM_016166.3(PIAS1):c.1520G>A (p.Arg507His) single nucleotide variant not provided [RCV003115510] Chr15:68181250 [GRCh38]
Chr15:68473588 [GRCh37]
Chr15:15q23		 uncertain significance
NC_000015.9:g.(?_68445908)_(68469012_?)dup duplication not provided [RCV003119713] Chr15:68445908..68469012 [GRCh37]
Chr15:15q23		 uncertain significance
NM_016166.3(PIAS1):c.307C>A (p.Pro103Thr) single nucleotide variant not provided [RCV002881286] Chr15:68086588 [GRCh38]
Chr15:68378926 [GRCh37]
Chr15:15q23		 uncertain significance
NM_016166.3(PIAS1):c.1297G>A (p.Asp433Asn) single nucleotide variant not provided [RCV002735895] Chr15:68175764 [GRCh38]
Chr15:68468102 [GRCh37]
Chr15:15q23		 uncertain significance
NM_016166.3(PIAS1):c.290T>A (p.Leu97His) single nucleotide variant Inborn genetic diseases [RCV002998576] Chr15:68086571 [GRCh38]
Chr15:68378909 [GRCh37]
Chr15:15q23		 uncertain significance
NM_016166.3(PIAS1):c.1731G>C (p.Ser577=) single nucleotide variant not provided [RCV002958925] Chr15:68187610 [GRCh38]
Chr15:68479948 [GRCh37]
Chr15:15q23		 likely benign
NM_016166.3(PIAS1):c.1663-5C>T single nucleotide variant not provided [RCV003023203] Chr15:68187537 [GRCh38]
Chr15:68479875 [GRCh37]
Chr15:15q23		 likely benign
NM_016166.3(PIAS1):c.280A>G (p.Ile94Val) single nucleotide variant Inborn genetic diseases [RCV002803596] Chr15:68086561 [GRCh38]
Chr15:68378899 [GRCh37]
Chr15:15q23		 uncertain significance
NM_016166.3(PIAS1):c.1170-19A>G single nucleotide variant not provided [RCV002700174] Chr15:68175618 [GRCh38]
Chr15:68467956 [GRCh37]
Chr15:15q23		 likely benign
NM_016166.3(PIAS1):c.721G>A (p.Val241Met) single nucleotide variant Inborn genetic diseases [RCV002986230] Chr15:68146593 [GRCh38]
Chr15:68438931 [GRCh37]
Chr15:15q23		 uncertain significance
NM_016166.3(PIAS1):c.1904C>T (p.Thr635Met) single nucleotide variant not provided [RCV002602455] Chr15:68187783 [GRCh38]
Chr15:68480121 [GRCh37]
Chr15:15q23		 uncertain significance
NM_016166.3(PIAS1):c.1709A>G (p.Asp570Gly) single nucleotide variant Inborn genetic diseases [RCV002807732] Chr15:68187588 [GRCh38]
Chr15:68479926 [GRCh37]
Chr15:15q23		 uncertain significance
NM_016166.3(PIAS1):c.1910C>T (p.Thr637Met) single nucleotide variant Inborn genetic diseases [RCV002807556] Chr15:68187789 [GRCh38]
Chr15:68480127 [GRCh37]
Chr15:15q23		 uncertain significance
NM_016166.3(PIAS1):c.1950G>A (p.Leu650=) single nucleotide variant not provided [RCV002577770] Chr15:68187829 [GRCh38]
Chr15:68480167 [GRCh37]
Chr15:15q23		 likely benign
NM_016166.3(PIAS1):c.1482-17A>T single nucleotide variant not provided [RCV002630482] Chr15:68181195 [GRCh38]
Chr15:68473533 [GRCh37]
Chr15:15q23		 likely benign
NM_016166.3(PIAS1):c.1392A>C (p.Ile464=) single nucleotide variant not provided [RCV003069836] Chr15:68176565 [GRCh38]
Chr15:68468903 [GRCh37]
Chr15:15q23		 likely benign
NM_016166.3(PIAS1):c.1128C>A (p.Val376=) single nucleotide variant not provided [RCV002612195] Chr15:68173851 [GRCh38]
Chr15:68466189 [GRCh37]
Chr15:15q23		 likely benign
NM_016166.3(PIAS1):c.1694C>T (p.Ala565Val) single nucleotide variant Inborn genetic diseases [RCV003193206] Chr15:68187573 [GRCh38]
Chr15:68479911 [GRCh37]
Chr15:15q23		 uncertain significance
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 copy number gain not provided [RCV003222839] Chr15:67358491..91644328 [GRCh37]
Chr15:15q22.33-26.1		 pathogenic
NM_016166.3(PIAS1):c.1618T>C (p.Leu540=) single nucleotide variant not provided [RCV003849529] Chr15:68181348 [GRCh38]
Chr15:68473686 [GRCh37]
Chr15:15q23		 likely benign
NM_016166.3(PIAS1):c.1869A>G (p.Glu623=) single nucleotide variant not provided [RCV003563694] Chr15:68187748 [GRCh38]
Chr15:68480086 [GRCh37]
Chr15:15q23		 benign
NM_016166.3(PIAS1):c.1153C>A (p.His385Asn) single nucleotide variant not provided [RCV003676788] Chr15:68173876 [GRCh38]
Chr15:68466214 [GRCh37]
Chr15:15q23		 uncertain significance
NM_016166.3(PIAS1):c.695G>T (p.Gly232Val) single nucleotide variant not provided [RCV003685390] Chr15:68146567 [GRCh38]
Chr15:68438905 [GRCh37]
Chr15:15q23		 uncertain significance
NM_016166.3(PIAS1):c.1499A>C (p.His500Pro) single nucleotide variant not provided [RCV003820837] Chr15:68181229 [GRCh38]
Chr15:68473567 [GRCh37]
Chr15:15q23		 uncertain significance
NM_016166.3(PIAS1):c.9C>T (p.Asp3=) single nucleotide variant not provided [RCV003676588] Chr15:68054335 [GRCh38]
Chr15:68346673 [GRCh37]
Chr15:15q23		 likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR424hsa-miR-424-5pMirtarbaseexternal_infoLuciferase reporter assayNon-Functional MTI20065103

Predicted Target Of
Summary Value
Count of predictions:1757
Count of miRNA genes:804
Interacting mature miRNAs:927
Transcripts:ENST00000249636, ENST00000545237, ENST00000562190, ENST00000563996, ENST00000564009, ENST00000564915, ENST00000567417
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.

Markers in Region
WI-15121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371568,391,263 - 68,391,376UniSTSGRCh37
Build 361566,178,317 - 66,178,430RGDNCBI36
Celera1545,279,170 - 45,279,283RGD
Cytogenetic Map15qUniSTS
HuRef1545,224,917 - 45,225,030UniSTS
GeneMap99-GB4 RH Map15235.91UniSTS
Whitehead-RH Map15225.4UniSTS
RH99183  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371568,379,774 - 68,379,894UniSTSGRCh37
Build 361566,166,828 - 66,166,948RGDNCBI36
Celera1545,267,653 - 45,267,773RGD
Cytogenetic Map15qUniSTS
HuRef1545,213,408 - 45,213,528UniSTS
GeneMap99-GB4 RH Map15237.85UniSTS
RH76483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371568,393,729 - 68,393,961UniSTSGRCh37
Build 361566,180,783 - 66,181,015RGDNCBI36
Celera1545,281,632 - 45,281,864RGD
Cytogenetic Map15qUniSTS
HuRef1545,227,379 - 45,227,611UniSTS
RH75732  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37179,812,500 - 79,812,576UniSTSGRCh37
GRCh371568,478,558 - 68,478,636UniSTSGRCh37
Build 36179,585,088 - 79,585,164RGDNCBI36
Celera178,052,091 - 78,052,167RGD
Celera1545,363,473 - 45,363,551UniSTS
Cytogenetic Map15qUniSTS
HuRef1545,309,295 - 45,309,373UniSTS
HuRef1526,205,408 - 26,205,484UniSTS
D15S1092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371568,480,214 - 68,480,397UniSTSGRCh37
Build 361566,267,268 - 66,267,451RGDNCBI36
Celera1545,365,129 - 45,365,312RGD
Cytogenetic Map15qUniSTS
HuRef1545,310,951 - 45,311,134UniSTS
GeneMap99-GB4 RH Map15230.25UniSTS
Whitehead-RH Map15230.1UniSTS
Whitehead-YAC Contig Map15 UniSTS
NCBI RH Map15410.5UniSTS
SHGC-56913  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371568,379,596 - 68,379,858UniSTSGRCh37
Build 361566,166,650 - 66,166,912RGDNCBI36
Celera1545,267,475 - 45,267,737RGD
Cytogenetic Map15qUniSTS
HuRef1545,213,230 - 45,213,492UniSTS
TNG Radiation Hybrid Map1525940.0UniSTS
RH45656  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371568,419,406 - 68,419,572UniSTSGRCh37
Build 361566,206,460 - 66,206,626RGDNCBI36
Celera1545,307,310 - 45,307,476RGD
Cytogenetic Map15qUniSTS
GeneMap99-GB4 RH Map15231.83UniSTS
NCBI RH Map15410.5UniSTS
RH46223  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371568,475,773 - 68,475,927UniSTSGRCh37
Build 361566,262,827 - 66,262,981RGDNCBI36
Celera1545,360,688 - 45,360,842RGD
Cytogenetic Map15qUniSTS
HuRef1545,306,506 - 45,306,660UniSTS
GeneMap99-GB4 RH Map15236.33UniSTS
NCBI RH Map15410.5UniSTS
SHGC-17413  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371568,398,525 - 68,398,656UniSTSGRCh37
Build 361566,185,579 - 66,185,710RGDNCBI36
Celera1545,286,428 - 45,286,559RGD
Cytogenetic Map15qUniSTS
HuRef1545,232,174 - 45,232,305UniSTS
Stanford-G3 RH Map152301.0UniSTS
NCBI RH Map15403.3UniSTS
GeneMap99-G3 RH Map152296.0UniSTS
PIAS1_3912  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371568,479,924 - 68,480,527UniSTSGRCh37
Build 361566,266,978 - 66,267,581RGDNCBI36
Celera1545,364,839 - 45,365,442RGD
HuRef1545,310,661 - 45,311,264UniSTS


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 1977 1965 1076 209 1738 86 3601 1048 1402 223 1408 1558 133 980 2155 3
Low 462 1025 650 415 213 379 756 1148 2332 196 52 55 42 1 224 633 3 2
Below cutoff 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001320687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA837658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC135628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF077951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF167160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY826819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC118587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF487997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF487998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ997900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U78524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000249636   ⟹   ENSP00000249636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,054,315 - 68,193,847 (+)Ensembl
RefSeq Acc Id: ENST00000545237   ⟹   ENSP00000438574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,054,576 - 68,188,064 (+)Ensembl
RefSeq Acc Id: ENST00000562190   ⟹   ENSP00000457698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,054,318 - 68,142,339 (+)Ensembl
RefSeq Acc Id: ENST00000563996   ⟹   ENSP00000456558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,181,211 - 68,190,758 (+)Ensembl
RefSeq Acc Id: ENST00000564009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,146,662 - 68,153,961 (+)Ensembl
RefSeq Acc Id: ENST00000564915   ⟹   ENSP00000456721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,054,309 - 68,142,339 (+)Ensembl
RefSeq Acc Id: ENST00000567417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,176,538 - 68,181,873 (+)Ensembl
RefSeq Acc Id: ENST00000611270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,191,682 - 68,198,603 (+)Ensembl
RefSeq Acc Id: NM_001320687   ⟹   NP_001307616
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381568,054,576 - 68,191,464 (+)NCBI
CHM1_11568,465,704 - 68,601,754 (+)NCBI
T2T-CHM13v2.01565,876,191 - 66,010,214 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016166   ⟹   NP_057250
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381568,054,315 - 68,193,847 (+)NCBI
GRCh371568,346,572 - 68,483,797 (+)NCBI
Build 361566,133,626 - 66,267,467 (+)NCBI Archive
HuRef1545,180,222 - 45,311,150 (+)ENTREZGENE
CHM1_11568,465,307 - 68,601,754 (+)NCBI
T2T-CHM13v2.01565,875,930 - 66,012,597 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522126   ⟹   XP_011520428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381568,054,315 - 68,193,847 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522127   ⟹   XP_011520429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381568,054,576 - 68,193,847 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022688   ⟹   XP_016878177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381568,054,315 - 68,193,847 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022689   ⟹   XP_016878178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381568,054,315 - 68,193,847 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047433197   ⟹   XP_047289153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381568,087,845 - 68,193,847 (+)NCBI
RefSeq Acc Id: XM_054379034   ⟹   XP_054235009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01565,876,000 - 66,012,597 (+)NCBI
RefSeq Acc Id: XM_054379035   ⟹   XP_054235010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01565,876,191 - 66,012,597 (+)NCBI
RefSeq Acc Id: XM_054379036   ⟹   XP_054235011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01565,876,190 - 66,012,597 (+)NCBI
RefSeq Acc Id: XM_054379037   ⟹   XP_054235012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01565,942,345 - 66,012,597 (+)NCBI
RefSeq Acc Id: XM_054379038   ⟹   XP_054235013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01565,908,304 - 66,012,597 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001307616 (Get FASTA)   NCBI Sequence Viewer  
  NP_057250 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520428 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520429 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878177 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878178 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289153 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235009 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235010 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235011 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235012 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235013 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB58488 (Get FASTA)   NCBI Sequence Viewer  
  AAC36702 (Get FASTA)   NCBI Sequence Viewer  
  AAD49722 (Get FASTA)   NCBI Sequence Viewer  
  AAI18588 (Get FASTA)   NCBI Sequence Viewer  
  AAI21798 (Get FASTA)   NCBI Sequence Viewer  
  AAX18639 (Get FASTA)   NCBI Sequence Viewer  
  ABP49565 (Get FASTA)   NCBI Sequence Viewer  
  ABP49566 (Get FASTA)   NCBI Sequence Viewer  
  ACR77525 (Get FASTA)   NCBI Sequence Viewer  
  BAG37114 (Get FASTA)   NCBI Sequence Viewer  
  BAG52901 (Get FASTA)   NCBI Sequence Viewer  
  EAW77804 (Get FASTA)   NCBI Sequence Viewer  
  EAW77805 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000249636
  ENSP00000249636.6
  ENSP00000438574
  ENSP00000438574.1
  ENSP00000456558.1
  ENSP00000456721.1
  ENSP00000457698.1
GenBank Protein O75925 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_057250   ⟸   NM_016166
- Peptide Label: isoform 2
- UniProtKB: Q99751 (UniProtKB/Swiss-Prot),   Q147X4 (UniProtKB/Swiss-Prot),   C5J4B4 (UniProtKB/Swiss-Prot),   B3KSY9 (UniProtKB/Swiss-Prot),   B2RB67 (UniProtKB/Swiss-Prot),   Q9UN02 (UniProtKB/Swiss-Prot),   O75925 (UniProtKB/Swiss-Prot),   A4ZVS7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520429   ⟸   XM_011522127
- Peptide Label: isoform X3
- UniProtKB: A4ZVS7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520428   ⟸   XM_011522126
- Peptide Label: isoform X1
- UniProtKB: A4ZVS7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307616   ⟸   NM_001320687
- Peptide Label: isoform 1
- UniProtKB: A4ZVS7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016878178   ⟸   XM_017022689
- Peptide Label: isoform X4
- UniProtKB: A4ZVS7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016878177   ⟸   XM_017022688
- Peptide Label: isoform X2
- UniProtKB: A4ZVS7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000438574   ⟸   ENST00000545237
RefSeq Acc Id: ENSP00000457698   ⟸   ENST00000562190
RefSeq Acc Id: ENSP00000249636   ⟸   ENST00000249636
RefSeq Acc Id: ENSP00000456558   ⟸   ENST00000563996
RefSeq Acc Id: ENSP00000456721   ⟸   ENST00000564915
RefSeq Acc Id: XP_047289153   ⟸   XM_047433197
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054235009   ⟸   XM_054379034
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054235011   ⟸   XM_054379036
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054235010   ⟸   XM_054379035
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054235013   ⟸   XM_054379038
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054235012   ⟸   XM_054379037
- Peptide Label: isoform X6
Protein Domains
PINIT   SAP   SP-RING-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75925-F1-model_v2 AlphaFold O75925 1-651 view protein structure

Promoters
RGD ID:6792508
Promoter ID:HG_KWN:21740
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:ENST00000249636
Position:
Human AssemblyChrPosition (strand)Source
Build 361566,133,494 - 66,133,994 (+)MPROMDB
RGD ID:7229911
Promoter ID:EPDNEW_H20701
Type:multiple initiation site
Name:PIAS1_1
Description:protein inhibitor of activated STAT 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
GRCh381568,054,315 - 68,054,375EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2752 AgrOrtholog
COSMIC PIAS1 COSMIC
Ensembl Genes ENSG00000033800 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000249636 ENTREZGENE
  ENST00000249636.11 UniProtKB/Swiss-Prot
  ENST00000545237 ENTREZGENE
  ENST00000545237.1 UniProtKB/Swiss-Prot
  ENST00000562190.1 UniProtKB/TrEMBL
  ENST00000563996.1 UniProtKB/TrEMBL
  ENST00000564915.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.720.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.120.780 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000033800 GTEx
HGNC ID HGNC:2752 ENTREZGENE
Human Proteome Map PIAS1 Human Proteome Map
InterPro PINIT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PINIT_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAP_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_MIZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8554 UniProtKB/Swiss-Prot
NCBI Gene 8554 ENTREZGENE
OMIM 603566 OMIM
PANTHER PTHR10782:SF11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC FINGER MIZ DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PINIT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-MIZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33285 PharmGKB
PROSITE PINIT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_SP_RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF68906 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A4ZVS7 ENTREZGENE, UniProtKB/TrEMBL
  A4ZVS8_HUMAN UniProtKB/TrEMBL
  B2RB67 ENTREZGENE
  B3KSY9 ENTREZGENE
  C5J4B4 ENTREZGENE
  H3BS65_HUMAN UniProtKB/TrEMBL
  H3BSI8_HUMAN UniProtKB/TrEMBL
  H3BUL7_HUMAN UniProtKB/TrEMBL
  O75925 ENTREZGENE, UniProtKB/Swiss-Prot
  Q147X4 ENTREZGENE
  Q1XBU8_HUMAN UniProtKB/TrEMBL
  Q99751 ENTREZGENE
  Q9UN02 ENTREZGENE
UniProt Secondary B2RB67 UniProtKB/Swiss-Prot
  B3KSY9 UniProtKB/Swiss-Prot
  C5J4B4 UniProtKB/Swiss-Prot
  Q147X4 UniProtKB/Swiss-Prot
  Q99751 UniProtKB/Swiss-Prot
  Q9UN02 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PIAS1  protein inhibitor of activated STAT 1  PIAS1  protein inhibitor of activated STAT, 1  Symbol and/or name change 5135510 APPROVED