IRF2 (interferon regulatory factor 2) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: IRF2 (interferon regulatory factor 2) Homo sapiens
Analyze
Symbol: IRF2
Name: interferon regulatory factor 2
RGD ID: 1312641
HGNC Page HGNC:6117
Description: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in cytosol; focal adhesion; and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp686F0244; IRF-2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384184,387,729 - 184,474,550 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4184,385,702 - 184,474,558 (-)EnsemblGRCh38hg38GRCh38
GRCh374185,308,883 - 185,395,704 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364185,545,870 - 185,632,720 (-)NCBINCBI36Build 36hg18NCBI36
Build 344185,684,063 - 185,770,852NCBI
Celera4182,637,543 - 182,724,388 (-)NCBICelera
Cytogenetic Map4q35.1NCBI
HuRef4181,063,134 - 181,150,003 (-)NCBIHuRef
CHM1_14185,285,381 - 185,372,245 (-)NCBICHM1_1
T2T-CHM13v2.04187,731,563 - 187,818,372 (-)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)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-palmitoylglycerol  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
ATP  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
cadmium dichloride  (ISO)
CGP 52608  (EXP)
cisplatin  (EXP)
clofibrate  (ISO)
cyclosporin A  (EXP)
D-glucose  (ISO)
dexamethasone  (ISO)
doxorubicin  (EXP)
flavonoids  (EXP)
fluoranthene  (ISO)
folic acid  (ISO)
Fusarenone X  (ISO)
gentamycin  (ISO)
glucose  (ISO)
lipopolysaccharide  (ISO)
manganese(II) chloride  (ISO)
melphalan  (EXP)
methapyrilene  (EXP)
methidathion  (ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
nickel atom  (EXP)
nickel dichloride  (EXP)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
perfluorohexanesulfonic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
sarin  (EXP)
silicon dioxide  (EXP,ISO)
Soman  (ISO)
streptozocin  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
tungsten  (ISO)
valproic acid  (EXP)
zidovudine  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISA)
cytosol  (IDA,TAS)
focal adhesion  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IEA)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Heightened Innate Immune Responses in the Respiratory Tract of COVID-19 Patients. Zhou Z, etal., Cell Host Microbe. 2020 Jun 10;27(6):883-890.e2. doi: 10.1016/j.chom.2020.04.017. Epub 2020 May 4.
Additional References at PubMed
PMID:1630448   PMID:2475256   PMID:2813069   PMID:7507207   PMID:7566098   PMID:7768900   PMID:8106512   PMID:8438157   PMID:8550813   PMID:9213219   PMID:9540062   PMID:9865486  
PMID:9865487   PMID:10022868   PMID:10102295   PMID:10482277   PMID:10609788   PMID:11025449   PMID:11264730   PMID:11304541   PMID:11420046   PMID:11721886   PMID:11748221   PMID:12474233  
PMID:12477932   PMID:12479817   PMID:12799427   PMID:14962090   PMID:15226432   PMID:15342556   PMID:15489334   PMID:15496418   PMID:15560761   PMID:15778351   PMID:16582966   PMID:16982896  
PMID:17200120   PMID:17698501   PMID:18029348   PMID:18395009   PMID:18514056   PMID:19032150   PMID:19247692   PMID:19274049   PMID:19756143   PMID:19828629   PMID:20034464   PMID:20129639  
PMID:20379614   PMID:20980339   PMID:21478870   PMID:21832049   PMID:21873635   PMID:21903422   PMID:21988832   PMID:22042864   PMID:22113474   PMID:22119988   PMID:22744333   PMID:22939624  
PMID:23554911   PMID:24583282   PMID:24607843   PMID:24632547   PMID:25207663   PMID:25285625   PMID:25609649   PMID:25924204   PMID:26173586   PMID:27246609   PMID:27576016   PMID:28465494  
PMID:28467773   PMID:28471447   PMID:28473536   PMID:28494239   PMID:28514442   PMID:28579269   PMID:29275213   PMID:29599126   PMID:30536700   PMID:30690483   PMID:30833792   PMID:31138473  
PMID:31150153   PMID:31350707   PMID:31353801   PMID:31391242   PMID:31471524   PMID:31968218   PMID:32115737   PMID:32271431   PMID:32377817   PMID:32671843   PMID:32694731   PMID:32911434  
PMID:33961781   PMID:34185419   PMID:34930359   PMID:35115027   PMID:35944360   PMID:36521002   PMID:36544762  


Genomics

Comparative Map Data
IRF2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384184,387,729 - 184,474,550 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4184,385,702 - 184,474,558 (-)EnsemblGRCh38hg38GRCh38
GRCh374185,308,883 - 185,395,704 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364185,545,870 - 185,632,720 (-)NCBINCBI36Build 36hg18NCBI36
Build 344185,684,063 - 185,770,852NCBI
Celera4182,637,543 - 182,724,388 (-)NCBICelera
Cytogenetic Map4q35.1NCBI
HuRef4181,063,134 - 181,150,003 (-)NCBIHuRef
CHM1_14185,285,381 - 185,372,245 (-)NCBICHM1_1
T2T-CHM13v2.04187,731,563 - 187,818,372 (-)NCBIT2T-CHM13v2.0
Irf2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39847,192,751 - 47,300,493 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl847,192,767 - 47,300,493 (+)EnsemblGRCm39 Ensembl
GRCm38846,739,745 - 46,847,458 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl846,739,732 - 46,847,458 (+)EnsemblGRCm38mm10GRCm38
MGSCv37847,825,099 - 47,932,812 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36848,238,592 - 48,346,275 (+)NCBIMGSCv36mm8
Celera849,422,414 - 49,530,424 (+)NCBICelera
Cytogenetic Map8B1.1NCBI
cM Map826.42NCBI
Irf2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81652,171,855 - 52,283,620 (-)NCBIGRCr8
mRatBN7.21645,439,215 - 45,550,054 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1645,439,225 - 45,550,024 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1650,839,474 - 50,949,404 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01654,206,552 - 54,316,157 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01649,478,876 - 49,588,780 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01648,582,354 - 48,732,129 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1648,582,026 - 48,732,932 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01648,294,559 - 48,446,482 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41648,672,930 - 48,725,511 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11648,672,601 - 48,725,589 (-)NCBI
Celera1643,443,543 - 43,496,401 (-)NCBICelera
Cytogenetic Map16q11NCBI
Irf2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540324,433,258 - 24,517,618 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540324,433,334 - 24,517,618 (+)NCBIChiLan1.0ChiLan1.0
IRF2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23182,111,693 - 182,198,550 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14182,475,293 - 182,562,154 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04176,554,979 - 176,641,827 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14188,779,134 - 188,865,764 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4188,779,134 - 188,865,764 (-)Ensemblpanpan1.1panPan2
IRF2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11646,053,148 - 46,131,677 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1646,053,206 - 46,130,781 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1646,545,906 - 46,625,442 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01648,268,829 - 48,348,786 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1648,268,843 - 48,348,784 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11646,233,717 - 46,313,550 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01646,848,118 - 46,927,755 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01646,981,845 - 47,061,671 (+)NCBIUU_Cfam_GSD_1.0
Irf2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494333,316,727 - 33,403,291 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365544,706,650 - 4,793,701 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365544,706,688 - 4,793,236 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IRF2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1545,546,783 - 45,634,704 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11545,546,779 - 45,693,241 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21552,135,048 - 52,232,993 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IRF2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.17130,352,809 - 130,440,485 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl7130,350,262 - 130,440,600 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037110,607,609 - 110,696,393 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Irf2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476915,164,744 - 15,251,745 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476915,167,228 - 15,251,689 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IRF2
14 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1 copy number loss See cases [RCV000050324] Chr4:181579626..186100199 [GRCh38]
Chr4:182500779..187021353 [GRCh37]
Chr4:182737773..187258347 [NCBI36]
Chr4:4q34.3-35.1		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1 copy number loss See cases [RCV000050771] Chr4:173599911..188624331 [GRCh38]
Chr4:174521062..189545485 [GRCh37]
Chr4:174757637..189782479 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3 copy number gain See cases [RCV000050649] Chr4:162013220..189975519 [GRCh38]
Chr4:162934372..190828225 [GRCh37]
Chr4:163153822..191133668 [NCBI36]
Chr4:4q32.2-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1 copy number loss See cases [RCV000050665] Chr4:183528264..188624331 [GRCh38]
Chr4:184449417..189545485 [GRCh37]
Chr4:184686411..189782479 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1 copy number loss See cases [RCV000051215] Chr4:175483683..189975519 [GRCh38]
Chr4:176404834..190828225 [GRCh37]
Chr4:176641828..191133668 [NCBI36]
Chr4:4q34.2-35.2		 pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2		 pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2		 pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167218288-189975519)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|See cases [RCV000051792] Chr4:167218288..189975519 [GRCh38]
Chr4:168139439..190828225 [GRCh37]
Chr4:168376014..191133668 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3 copy number gain See cases [RCV000051804] Chr4:172200228..189975519 [GRCh38]
Chr4:173121379..190828225 [GRCh37]
Chr4:173357954..191133668 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3 copy number gain See cases [RCV000051805] Chr4:179946068..189548183 [GRCh38]
Chr4:180867221..190469337 [GRCh37]
Chr4:181104215..190706331 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q35.1(chr4:182990639-186013514)x3 copy number gain See cases [RCV000051806] Chr4:182990639..186013514 [GRCh38]
Chr4:183911792..186934668 [GRCh37]
Chr4:184148786..187171662 [NCBI36]
Chr4:4q35.1		 pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:158568335-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|See cases [RCV000053325] Chr4:158568335..189975660 [GRCh38]
Chr4:159489487..190828225 [GRCh37]
Chr4:159708937..191133809 [NCBI36]
Chr4:4q32.1-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:163651681-189975519)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|See cases [RCV000053327] Chr4:163651681..189975519 [GRCh38]
Chr4:164572833..190828225 [GRCh37]
Chr4:164792283..191133668 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1 copy number loss See cases [RCV000053347] Chr4:164039530..189982708 [GRCh38]
Chr4:164960682..190828225 [GRCh37]
Chr4:165180132..191140857 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1 copy number loss See cases [RCV000053349] Chr4:171507704..189869726 [GRCh38]
Chr4:172428855..190790881 [GRCh37]
Chr4:172665430..191027875 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1 copy number loss See cases [RCV000053352] Chr4:172356988..189975519 [GRCh38]
Chr4:173278139..190828225 [GRCh37]
Chr4:173514714..191133668 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1 copy number loss See cases [RCV000053353] Chr4:173754675..189343295 [GRCh38]
Chr4:174675826..190264449 [GRCh37]
Chr4:174912401..190501443 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1 copy number loss See cases [RCV000053378] Chr4:183354112..190042639 [GRCh38]
Chr4:184275265..190828225 [GRCh37]
Chr4:184512259..191200788 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q34.2-35.2(chr4:176263514-189975519)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053373]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053373]|See cases [RCV000053373] Chr4:176263514..189975519 [GRCh38]
Chr4:177184665..190828225 [GRCh37]
Chr4:177421659..191133668 [NCBI36]
Chr4:4q34.2-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1 copy number loss See cases [RCV000053374] Chr4:177442769..190042639 [GRCh38]
Chr4:178363923..190828225 [GRCh37]
Chr4:178600917..191200788 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179669472-189975660)x1 copy number loss See cases [RCV000053375] Chr4:179669472..189975660 [GRCh38]
Chr4:180590625..190828225 [GRCh37]
Chr4:180827619..191133809 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179945868-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053376]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053376]|See cases [RCV000053376] Chr4:179945868..189975660 [GRCh38]
Chr4:180867021..190828225 [GRCh37]
Chr4:181104015..191133809 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:181455566-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053377]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053377]|See cases [RCV000053377] Chr4:181455566..189975660 [GRCh38]
Chr4:182376719..190828225 [GRCh37]
Chr4:182613713..191133809 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
NM_002199.3(IRF2):c.87+964T>C single nucleotide variant Lung cancer [RCV000094451] Chr4:184428014 [GRCh38]
Chr4:185349168 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_002199.3(IRF2):c.87+959T>G single nucleotide variant Lung cancer [RCV000094452] Chr4:184428019 [GRCh38]
Chr4:185349173 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x3 copy number gain See cases [RCV000133708] Chr4:184327081..189975519 [GRCh38]
Chr4:185248234..190828225 [GRCh37]
Chr4:185485228..191133668 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1 copy number loss See cases [RCV000133709] Chr4:184327081..189975519 [GRCh38]
Chr4:185248234..190896674 [GRCh37]
Chr4:185485228..191133668 [NCBI36]
Chr4:4q35.1-35.2		 likely pathogenic|likely benign
GRCh38/hg38 4q35.1-35.2(chr4:184406972-188915538)x3 copy number gain See cases [RCV000134158] Chr4:184406972..188915538 [GRCh38]
Chr4:185328126..189836692 [GRCh37]
Chr4:185565120..190073686 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1 copy number loss See cases [RCV000134276] Chr4:182437091..190018185 [GRCh38]
Chr4:183358244..190939340 [GRCh37]
Chr4:183595238..191176334 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3 copy number gain See cases [RCV000135693] Chr4:180451652..190095391 [GRCh38]
Chr4:181372805..190828225 [GRCh37]
Chr4:181609799..191250527 [NCBI36]
Chr4:4q34.3-35.2		 likely pathogenic
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1 copy number loss See cases [RCV000136115] Chr4:173854560..189548183 [GRCh38]
Chr4:174775711..190469337 [GRCh37]
Chr4:175012286..190706331 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:184239531-189975519)x1 copy number loss See cases [RCV000136942] Chr4:184239531..189975519 [GRCh38]
Chr4:185160684..190828225 [GRCh37]
Chr4:185397678..191133668 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1 copy number loss See cases [RCV000137101] Chr4:177985956..189975519 [GRCh38]
Chr4:178907110..190828225 [GRCh37]
Chr4:179144104..191133668 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2		 pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic|likely benign
GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1 copy number loss See cases [RCV000137532] Chr4:166317587..190095391 [GRCh38]
Chr4:167238739..190828225 [GRCh37]
Chr4:167458189..191250527 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1 copy number loss See cases [RCV000137343] Chr4:178014570..190095391 [GRCh38]
Chr4:178935724..190828225 [GRCh37]
Chr4:179172718..191250527 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1 copy number loss See cases [RCV000137262] Chr4:178549472..190095391 [GRCh38]
Chr4:179470626..190828225 [GRCh37]
Chr4:179707620..191250527 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1 copy number loss See cases [RCV000137345] Chr4:180574962..190095391 [GRCh38]
Chr4:181496115..190828225 [GRCh37]
Chr4:181733109..191250527 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:174150183-188259055)x1 copy number loss See cases [RCV000137925] Chr4:174150183..188259055 [GRCh38]
Chr4:175071334..189180209 [GRCh37]
Chr4:175307909..189417203 [NCBI36]
Chr4:4q34.1-35.2		 likely pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1 copy number loss See cases [RCV000138668] Chr4:183072743..190095391 [GRCh38]
Chr4:183993896..190828225 [GRCh37]
Chr4:184230890..191250527 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1		 pathogenic|likely benign
GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3 copy number gain See cases [RCV000138540] Chr4:169901205..190095391 [GRCh38]
Chr4:170822356..190828225 [GRCh37]
Chr4:171058931..191250527 [NCBI36]
Chr4:4q33-35.2		 uncertain significance
GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1 copy number loss See cases [RCV000140396] Chr4:169873508..190018185 [GRCh38]
Chr4:170794659..190939340 [GRCh37]
Chr4:171031234..191176334 [NCBI36]
Chr4:4q33-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1 copy number loss See cases [RCV000140414] Chr4:165281036..190018185 [GRCh38]
Chr4:166202188..190939340 [GRCh37]
Chr4:166421638..191176334 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3 copy number gain See cases [RCV000140450] Chr4:179295511..190036318 [GRCh38]
Chr4:180216665..190957473 [GRCh37]
Chr4:180453659..191194467 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3 copy number gain See cases [RCV000140982] Chr4:160757699..190091407 [GRCh38]
Chr4:161678851..191012562 [GRCh37]
Chr4:161898301..191246543 [NCBI36]
Chr4:4q32.1-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1 copy number loss See cases [RCV000141964] Chr4:167373716..190036318 [GRCh38]
Chr4:168294867..190957473 [GRCh37]
Chr4:168531442..191194467 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1 copy number loss See cases [RCV000141490] Chr4:173989029..189975519 [GRCh38]
Chr4:174910180..190828225 [GRCh37]
Chr4:175146755..191133668 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4 copy number gain See cases [RCV000141753] Chr4:182732498..187998523 [GRCh38]
Chr4:183653651..188919677 [GRCh37]
Chr4:183890645..189156671 [NCBI36]
Chr4:4q35.1-35.2		 likely pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1 copy number loss See cases [RCV000142368] Chr4:168970400..186936738 [GRCh38]
Chr4:169891551..187857892 [GRCh37]
Chr4:170128126..188094886 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.1(chr4:181762338-185175891)x1 copy number loss See cases [RCV000142279] Chr4:181762338..185175891 [GRCh38]
Chr4:182683491..186097045 [GRCh37]
Chr4:182920485..186334039 [NCBI36]
Chr4:4q34.3-35.1		 uncertain significance
GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1 copy number loss See cases [RCV000143079] Chr4:172501374..190095332 [GRCh38]
Chr4:173422525..190828225 [GRCh37]
Chr4:173659100..191250468 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3 copy number gain See cases [RCV000143010] Chr4:180717850..190095391 [GRCh38]
Chr4:181639003..190828225 [GRCh37]
Chr4:181875997..191250527 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic|likely benign
GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3 copy number gain See cases [RCV000143331] Chr4:168119317..190095391 [GRCh38]
Chr4:169040468..190828225 [GRCh37]
Chr4:169277043..191250527 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1 copy number loss See cases [RCV000143232] Chr4:170899124..190036318 [GRCh38]
Chr4:171820275..190957473 [GRCh37]
Chr4:172056850..191194467 [NCBI36]
Chr4:4q33-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1 copy number loss See cases [RCV000143626] Chr4:176756632..189621964 [GRCh38]
Chr4:177677786..190543118 [GRCh37]
Chr4:177914780..190780112 [NCBI36]
Chr4:4q34.3-35.2		 likely pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1 copy number loss See cases [RCV000148272] Chr4:181579626..186100199 [GRCh38]
Chr4:182500779..187021353 [GRCh37]
Chr4:182737773..187258347 [NCBI36]
Chr4:4q34.3-35.1		 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:176270886-190713650)x1 copy number loss See cases [RCV000239790] Chr4:176270886..190713650 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:178243625-190713650)x1 copy number loss See cases [RCV000239851] Chr4:178243625..190713650 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1 copy number loss See cases [RCV002292706] Chr4:167779888..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185381293-190957473)x1 copy number loss See cases [RCV000449363] Chr4:185381293..190957473 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185253508-190713591)x1 copy number loss See cases [RCV000449221] Chr4:185253508..190713591 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175550289-190838582)x1 copy number loss See cases [RCV000446613] Chr4:175550289..190838582 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167413365-190957473)x1 copy number loss See cases [RCV000446115] Chr4:167413365..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166735148-190957473)x3 copy number gain See cases [RCV000446531] Chr4:166735148..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175749001-190957473)x1 copy number loss See cases [RCV000445881] Chr4:175749001..190957473 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175550289-190957473)x1 copy number loss See cases [RCV000448048] Chr4:175550289..190957473 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q35.1(chr4:183959053-186858555)x3 copy number gain See cases [RCV000448219] Chr4:183959053..186858555 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q35.1-35.2(chr4:184852835-190957473)x1 copy number loss See cases [RCV000512074] Chr4:184852835..190957473 [GRCh37]
Chr4:4q35.1-35.2		 likely pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3 copy number gain See cases [RCV000510222] Chr4:166436844..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 copy number gain See cases [RCV000510713] Chr4:153890440..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2		 pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
GRCh37/hg19 4q34.2-35.2(chr4:176306103-190957473)x3 copy number gain See cases [RCV000511078] Chr4:176306103..190957473 [GRCh37]
Chr4:4q34.2-35.2		 pathogenic
GRCh37/hg19 4q35.1(chr4:184870144-186592638)x3 copy number gain See cases [RCV000510983] Chr4:184870144..186592638 [GRCh37]
Chr4:4q35.1		 likely benign
NM_002199.4(IRF2):c.88_89del (p.Glu30fs) deletion not provided [RCV000626080] Chr4:184419567..184419568 [GRCh38]
Chr4:185340721..185340722 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q34.3-35.2(chr4:180702769-190957473)x3 copy number gain See cases [RCV000512153] Chr4:180702769..190957473 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3 copy number gain See cases [RCV000512542] Chr4:156465633..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1 copy number loss not provided [RCV000682484] Chr4:169969014..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175709188-190957473)x1 copy number loss not provided [RCV000682492] Chr4:175709188..190957473 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:178771936-190957473)x3 copy number gain not provided [RCV000682495] Chr4:178771936..190957473 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185017749-190957473)x3 copy number gain not provided [RCV000682497] Chr4:185017749..190957473 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3 copy number gain not provided [RCV000682478] Chr4:159492464..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
Single allele deletion not provided [RCV000677918] Chr4:176270886..190713650 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q34.2-35.2(chr4:176493246-190957473)x1 copy number loss not provided [RCV000682493] Chr4:176493246..190957473 [GRCh37]
Chr4:4q34.2-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:183157313-191028879)x1 copy number loss not provided [RCV000744206] Chr4:183157313..191028879 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:184040122-187880098)x3 copy number gain not provided [RCV000744219] Chr4:184040122..187880098 [GRCh37]
Chr4:4q35.1-35.2		 uncertain significance
GRCh37/hg19 4q35.1-35.2(chr4:185137253-190915650)x1 copy number loss not provided [RCV000744226] Chr4:185137253..190915650 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q35.1(chr4:185394302-185394907)x1 copy number loss not provided [RCV000744227] Chr4:185394302..185394907 [GRCh37]
Chr4:4q35.1		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q33-35.2(chr4:171663620-190431429) copy number loss not provided [RCV000767673] Chr4:171663620..190431429 [GRCh37]
Chr4:4q33-35.2		 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545) copy number loss not provided [RCV000767793] Chr4:174610492..190427545 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
NM_002199.4(IRF2):c.909C>T (p.Ser303=) single nucleotide variant not provided [RCV000880138] Chr4:184388899 [GRCh38]
Chr4:185310053 [GRCh37]
Chr4:4q35.1		 benign
GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1 copy number loss not provided [RCV001005612] Chr4:165010461..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1 copy number loss not provided [RCV000845722] Chr4:166623890..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:179996712-190957473)x1 copy number loss not provided [RCV000849865] Chr4:179996712..190957473 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:183245174-190948359)x1 copy number loss not provided [RCV000998343] Chr4:183245174..190948359 [GRCh37]
Chr4:4q35.1-35.2		 likely pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:179752903-187987047)x3 copy number gain not provided [RCV001005627] Chr4:179752903..187987047 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 copy number gain not provided [RCV000849098] Chr4:151174061..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:178566256-190957473)x1 copy number loss not provided [RCV001005626] Chr4:178566256..190957473 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3 copy number gain not provided [RCV000847360] Chr4:169607746..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:184648532-190957473)x1 copy number loss not provided [RCV000846185] Chr4:184648532..190957473 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q35.1(chr4:184695117-185817439)x3 copy number gain not provided [RCV001005628] Chr4:184695117..185817439 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q35.1(chr4:183712263-185501647)x1 copy number loss not provided [RCV000845694] Chr4:183712263..185501647 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q35.1(chr4:183712263-185501647)x1 copy number loss not provided [RCV000845695] Chr4:183712263..185501647 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q34.2-35.2(chr4:177189906-190816266)x1 copy number loss not provided [RCV000846268] Chr4:177189906..190816266 [GRCh37]
Chr4:4q34.2-35.2		 pathogenic
NM_002199.4(IRF2):c.705G>A (p.Thr235=) single nucleotide variant not provided [RCV000966930] Chr4:184390739 [GRCh38]
Chr4:185311893 [GRCh37]
Chr4:4q35.1		 benign
GRCh37/hg19 4q35.1(chr4:185211828-185748806)x3 copy number gain not provided [RCV001005629] Chr4:185211828..185748806 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678) copy number loss Atypical behavior [RCV001291982] Chr4:179554876..190916678 [GRCh37]
Chr4:4q34.3-35.2		 likely pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765) copy number gain not specified [RCV002053465] Chr4:159755174..190225765 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:183221828-190957473) copy number loss not specified [RCV002053473] Chr4:183221828..190957473 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175855408-190957473) copy number gain not specified [RCV002053471] Chr4:175855408..190957473 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185381293-190957473) copy number loss not specified [RCV002053475] Chr4:185381293..190957473 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185211271-190957473)x1 copy number loss See cases [RCV002292211] Chr4:185211271..190957473 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:174944132-190957473)x1 copy number loss FETAL DEMISE [RCV002282976] Chr4:174944132..190957473 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1 copy number loss See cases [RCV002292401] Chr4:159174483..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
NM_002199.4(IRF2):c.895G>C (p.Val299Leu) single nucleotide variant not specified [RCV004315486] Chr4:184388913 [GRCh38]
Chr4:185310067 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q35.1-35.2(chr4:183694501-190957473)x1 copy number loss not provided [RCV002472626] Chr4:183694501..190957473 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
NM_002199.4(IRF2):c.790A>T (p.Ser264Cys) single nucleotide variant not specified [RCV004172281] Chr4:184389018 [GRCh38]
Chr4:185310172 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_002199.4(IRF2):c.980A>T (p.Asp327Val) single nucleotide variant not specified [RCV004099808] Chr4:184388828 [GRCh38]
Chr4:185309982 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_002199.4(IRF2):c.523A>T (p.Ile175Phe) single nucleotide variant not specified [RCV004192345] Chr4:184408164 [GRCh38]
Chr4:185329318 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_002199.4(IRF2):c.200C>G (p.Pro67Arg) single nucleotide variant not specified [RCV004114393] Chr4:184418696 [GRCh38]
Chr4:185339850 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_002199.4(IRF2):c.947C>T (p.Ser316Phe) single nucleotide variant not specified [RCV004193427] Chr4:184388861 [GRCh38]
Chr4:185310015 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_002199.4(IRF2):c.841G>A (p.Val281Ile) single nucleotide variant not specified [RCV004260281] Chr4:184388967 [GRCh38]
Chr4:185310121 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3 copy number gain not provided [RCV003484595] Chr4:167409608..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
Single allele deletion not provided [RCV003448667] Chr4:180937545..190915069 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2		 pathogenic
GRCh37/hg19 4q35.1(chr4:184577681-186368031)x3 copy number gain not specified [RCV003986502] Chr4:184577681..186368031 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q35.1(chr4:185160596-186000108)x1 copy number loss not specified [RCV003986531] Chr4:185160596..186000108 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q34.1-35.1(chr4:175496275-186495932)x1 copy number loss not specified [RCV003986504] Chr4:175496275..186495932 [GRCh37]
Chr4:4q34.1-35.1		 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1 copy number loss not specified [RCV003986532] Chr4:161589441..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4q35.1(chr4:184752570-186308447)x3 copy number gain not specified [RCV003986530] Chr4:184752570..186308447 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 copy number gain not specified [RCV003986533] Chr4:123399154..190957473 [GRCh37]
Chr4:4q27-35.2		 pathogenic
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1 copy number loss not provided [RCV003885510] Chr4:169060637..191154276 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
NM_002199.4(IRF2):c.769A>C (p.Ile257Leu) single nucleotide variant not specified [RCV004403234] Chr4:184389039 [GRCh38]
Chr4:185310193 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_002199.4(IRF2):c.757C>T (p.Arg253Trp) single nucleotide variant not specified [RCV004403233] Chr4:184389051 [GRCh38]
Chr4:185310205 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_002199.4(IRF2):c.588G>A (p.Pro196=) single nucleotide variant not specified [RCV004403232] Chr4:184399021 [GRCh38]
Chr4:185320175 [GRCh37]
Chr4:4q35.1		 likely benign
NM_002199.4(IRF2):c.515C>T (p.Thr172Met) single nucleotide variant not specified [RCV004403231] Chr4:184408172 [GRCh38]
Chr4:185329326 [GRCh37]
Chr4:4q35.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1923
Count of miRNA genes:828
Interacting mature miRNAs:952
Transcripts:ENST00000393593, ENST00000502750, ENST00000504340, ENST00000505067, ENST00000506230, ENST00000507523, ENST00000509274, ENST00000510814, ENST00000512020
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-37407  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374185,393,102 - 185,393,227UniSTSGRCh37
Build 364185,630,096 - 185,630,221RGDNCBI36
Celera4182,721,764 - 182,721,889RGD
Cytogenetic Map4q34.1-q35.1UniSTS
HuRef4181,147,379 - 181,147,504UniSTS
TNG Radiation Hybrid Map4109461.0UniSTS
GeneMap99-G3 RH Map49823.0UniSTS
SHGC-53528  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374185,393,224 - 185,393,455UniSTSGRCh37
Build 364185,630,218 - 185,630,449RGDNCBI36
Celera4182,721,886 - 182,722,117RGD
Cytogenetic Map4q34.1-q35.1UniSTS
HuRef4181,147,501 - 181,147,732UniSTS
TNG Radiation Hybrid Map4109497.0UniSTS
SHGC-64834  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374185,393,224 - 185,393,330UniSTSGRCh37
Build 364185,630,218 - 185,630,324RGDNCBI36
Celera4182,721,886 - 182,721,992RGD
Cytogenetic Map4q34.1-q35.1UniSTS
HuRef4181,147,501 - 181,147,607UniSTS
TNG Radiation Hybrid Map4109497.0UniSTS
RH91241  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374185,393,354 - 185,393,517UniSTSGRCh37
Build 364185,630,348 - 185,630,511RGDNCBI36
Celera4182,722,016 - 182,722,179RGD
Cytogenetic Map4q34.1-q35.1UniSTS
HuRef4181,147,631 - 181,147,794UniSTS
GeneMap99-GB4 RH Map4679.91UniSTS
IRF2_754  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374185,308,901 - 185,309,760UniSTSGRCh37
Build 364185,545,895 - 185,546,754RGDNCBI36
Celera4182,637,568 - 182,638,422RGD
HuRef4181,063,159 - 181,064,014UniSTS
D4S3342  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374185,309,224 - 185,309,455UniSTSGRCh37
Build 364185,546,218 - 185,546,449RGDNCBI36
Celera4182,637,891 - 182,638,117RGD
Cytogenetic Map4q34.1-q35.1UniSTS
HuRef4181,063,483 - 181,063,709UniSTS
SHGC-24783  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374185,377,338 - 185,377,487UniSTSGRCh37
Build 364185,614,332 - 185,614,481RGDNCBI36
Celera4182,706,000 - 182,706,149RGD
Cytogenetic Map4q34.1-q35.1UniSTS
HuRef4181,131,613 - 181,131,762UniSTS
TNG Radiation Hybrid Map4110595.0UniSTS
Stanford-G3 RH Map49898.0UniSTS
GeneMap99-GB4 RH Map4679.91UniSTS
Whitehead-RH Map4743.0UniSTS
GeneMap99-G3 RH Map49823.0UniSTS
SHGC-57754  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374185,352,228 - 185,352,367UniSTSGRCh37
Build 364185,589,222 - 185,589,361RGDNCBI36
Celera4182,680,891 - 182,681,030RGD
Cytogenetic Map4q34.1-q35.1UniSTS
HuRef4181,106,475 - 181,106,614UniSTS
TNG Radiation Hybrid Map4109507.0UniSTS
SHGC-11934  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374185,309,704 - 185,309,799UniSTSGRCh37
Build 364185,546,698 - 185,546,793RGDNCBI36
Celera4182,638,366 - 182,638,461RGD
Cytogenetic Map4q34.1-q35.1UniSTS
HuRef4181,063,958 - 181,064,053UniSTS
Stanford-G3 RH Map49888.0UniSTS
NCBI RH Map41757.2UniSTS
GeneMap99-G3 RH Map49813.0UniSTS
D4S1161  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374185,323,017 - 185,323,197UniSTSGRCh37
Build 364185,560,011 - 185,560,191RGDNCBI36
Celera4182,651,679 - 182,651,859RGD
Cytogenetic Map4q34.1-q35.1UniSTS
HuRef4181,077,274 - 181,077,454UniSTS
TNG Radiation Hybrid Map4109535.0UniSTS
SHGC-25089  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374185,332,544 - 185,332,652UniSTSGRCh37
Build 364185,569,538 - 185,569,646RGDNCBI36
Celera4182,661,206 - 182,661,314RGD
Cytogenetic Map4q34.1-q35.1UniSTS
HuRef4181,086,800 - 181,086,908UniSTS
TNG Radiation Hybrid Map4109527.0UniSTS
G34450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374185,322,969 - 185,323,162UniSTSGRCh37
Build 364185,559,963 - 185,560,156RGDNCBI36
Celera4182,651,631 - 182,651,824RGD
Cytogenetic Map4q34.1-q35.1UniSTS
HuRef4181,077,226 - 181,077,419UniSTS


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 2408 2395 1634 553 1911 395 4072 1610 2110 355 1128 1584 170 1187 2560 3
Low 30 594 90 71 39 70 283 585 1607 63 330 27 3 1 17 228 2 2
Below cutoff 1 2 1 13 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_002199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA361545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC103540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP200998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ017798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D14082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ409328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L24442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000393593   ⟹   ENSP00000377218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4184,387,729 - 184,474,550 (-)Ensembl
RefSeq Acc Id: ENST00000502750   ⟹   ENSP00000423074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4184,387,729 - 184,474,542 (-)Ensembl
RefSeq Acc Id: ENST00000504340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4184,387,878 - 184,474,558 (-)Ensembl
RefSeq Acc Id: ENST00000505067   ⟹   ENSP00000421927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4184,387,791 - 184,474,008 (-)Ensembl
RefSeq Acc Id: ENST00000506230   ⟹   ENSP00000422860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4184,418,167 - 184,474,186 (-)Ensembl
RefSeq Acc Id: ENST00000507523   ⟹   ENSP00000427204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4184,408,158 - 184,474,049 (-)Ensembl
RefSeq Acc Id: ENST00000509274   ⟹   ENSP00000425037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4184,418,175 - 184,474,047 (-)Ensembl
RefSeq Acc Id: ENST00000510814   ⟹   ENSP00000424552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4184,387,791 - 184,474,048 (-)Ensembl
RefSeq Acc Id: ENST00000512020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4184,408,159 - 184,474,548 (-)Ensembl
RefSeq Acc Id: ENST00000696840   ⟹   ENSP00000512918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4184,385,702 - 184,474,508 (-)Ensembl
RefSeq Acc Id: ENST00000696841   ⟹   ENSP00000512954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4184,387,729 - 184,448,870 (-)Ensembl
RefSeq Acc Id: ENST00000696842   ⟹   ENSP00000512919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4184,387,729 - 184,474,429 (-)Ensembl
RefSeq Acc Id: ENST00000696843   ⟹   ENSP00000512920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4184,387,729 - 184,474,531 (-)Ensembl
RefSeq Acc Id: ENST00000696844   ⟹   ENSP00000512921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4184,387,729 - 184,474,548 (-)Ensembl
RefSeq Acc Id: ENST00000696845   ⟹   ENSP00000512922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4184,387,729 - 184,474,549 (-)Ensembl
RefSeq Acc Id: ENST00000696846   ⟹   ENSP00000512923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4184,387,729 - 184,474,550 (-)Ensembl
RefSeq Acc Id: ENST00000696847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4184,387,791 - 184,392,972 (-)Ensembl
RefSeq Acc Id: ENST00000696848   ⟹   ENSP00000512924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4184,387,791 - 184,448,757 (-)Ensembl
RefSeq Acc Id: ENST00000696849   ⟹   ENSP00000512925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4184,387,791 - 184,474,152 (-)Ensembl
RefSeq Acc Id: ENST00000696850   ⟹   ENSP00000512926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4184,387,791 - 184,474,537 (-)Ensembl
RefSeq Acc Id: ENST00000696851   ⟹   ENSP00000512927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4184,387,791 - 184,474,548 (-)Ensembl
RefSeq Acc Id: ENST00000696852   ⟹   ENSP00000512928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4184,387,791 - 184,474,550 (-)Ensembl
RefSeq Acc Id: ENST00000696853   ⟹   ENSP00000512929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4184,387,791 - 184,474,550 (-)Ensembl
RefSeq Acc Id: NM_002199   ⟹   NP_002190
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384184,387,729 - 184,474,550 (-)NCBI
GRCh374185,308,867 - 185,395,734 (-)NCBI
Build 364185,545,870 - 185,632,720 (-)NCBI Archive
HuRef4181,063,134 - 181,150,003 (-)ENTREZGENE
CHM1_14185,285,381 - 185,372,245 (-)NCBI
T2T-CHM13v2.04187,731,563 - 187,818,372 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_002190   ⟸   NM_002199
- UniProtKB: Q6IAS7 (UniProtKB/Swiss-Prot),   H0Y8S3 (UniProtKB/Swiss-Prot),   D6RCK5 (UniProtKB/Swiss-Prot),   Q96B99 (UniProtKB/Swiss-Prot),   P14316 (UniProtKB/Swiss-Prot),   K4DIA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000423074   ⟸   ENST00000502750
RefSeq Acc Id: ENSP00000421927   ⟸   ENST00000505067
RefSeq Acc Id: ENSP00000422860   ⟸   ENST00000506230
RefSeq Acc Id: ENSP00000427204   ⟸   ENST00000507523
RefSeq Acc Id: ENSP00000425037   ⟸   ENST00000509274
RefSeq Acc Id: ENSP00000424552   ⟸   ENST00000510814
RefSeq Acc Id: ENSP00000377218   ⟸   ENST00000393593
RefSeq Acc Id: ENSP00000512918   ⟸   ENST00000696840
RefSeq Acc Id: ENSP00000512924   ⟸   ENST00000696848
RefSeq Acc Id: ENSP00000512920   ⟸   ENST00000696843
RefSeq Acc Id: ENSP00000512929   ⟸   ENST00000696853
RefSeq Acc Id: ENSP00000512926   ⟸   ENST00000696850
RefSeq Acc Id: ENSP00000512919   ⟸   ENST00000696842
RefSeq Acc Id: ENSP00000512954   ⟸   ENST00000696841
RefSeq Acc Id: ENSP00000512925   ⟸   ENST00000696849
RefSeq Acc Id: ENSP00000512922   ⟸   ENST00000696845
RefSeq Acc Id: ENSP00000512927   ⟸   ENST00000696851
RefSeq Acc Id: ENSP00000512928   ⟸   ENST00000696852
RefSeq Acc Id: ENSP00000512923   ⟸   ENST00000696846
RefSeq Acc Id: ENSP00000512921   ⟸   ENST00000696844
Protein Domains
IRF tryptophan pentad repeat

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P14316-F1-model_v2 AlphaFold P14316 1-349 view protein structure

Promoters
RGD ID:6869000
Promoter ID:EPDNEW_H7665
Type:initiation region
Name:IRF2_1
Description:interferon regulatory factor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7678  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384184,474,550 - 184,474,610EPDNEW
RGD ID:6812532
Promoter ID:HG_ACW:61955
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:IRF2.KAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 364185,546,576 - 185,551,027 (-)MPROMDB
RGD ID:6802386
Promoter ID:HG_KWN:49570
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000393593
Position:
Human AssemblyChrPosition (strand)Source
Build 364185,587,481 - 185,587,981 (-)MPROMDB
RGD ID:6802385
Promoter ID:HG_KWN:49571
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_002199
Position:
Human AssemblyChrPosition (strand)Source
Build 364185,632,256 - 185,633,567 (-)MPROMDB
RGD ID:6850284
Promoter ID:EP48006
Type:single initiation site
Name:HS_IRF2
Description:Interferon regulatory factor-2, IRF2 gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Sequencing of a full-length cDNA; Primer extension with homologous sequence ladder
Regulation:leukocytes; (induced by or strongly expressed in) IRF (repressed by or weakly expressed in) 1
Position:
Human AssemblyChrPosition (strand)Source
Build 364185,632,629 - 185,632,689EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6117 AgrOrtholog
COSMIC IRF2 COSMIC
Ensembl Genes ENSG00000168310 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000393593 ENTREZGENE
  ENST00000393593.8 UniProtKB/Swiss-Prot
  ENST00000502750.2 UniProtKB/TrEMBL
  ENST00000504340.2 UniProtKB/Swiss-Prot
  ENST00000505067.6 UniProtKB/TrEMBL
  ENST00000506230.5 UniProtKB/TrEMBL
  ENST00000507523.5 UniProtKB/TrEMBL
  ENST00000509274.1 UniProtKB/TrEMBL
  ENST00000510814.5 UniProtKB/TrEMBL
  ENST00000510814.6 UniProtKB/Swiss-Prot
  ENST00000696840.1 UniProtKB/Swiss-Prot
  ENST00000696841.1 UniProtKB/Swiss-Prot
  ENST00000696842.1 UniProtKB/TrEMBL
  ENST00000696843.1 UniProtKB/Swiss-Prot
  ENST00000696844.1 UniProtKB/TrEMBL
  ENST00000696845.1 UniProtKB/Swiss-Prot
  ENST00000696846.1 UniProtKB/Swiss-Prot
  ENST00000696848.1 UniProtKB/Swiss-Prot
  ENST00000696849.1 UniProtKB/Swiss-Prot
  ENST00000696850.1 UniProtKB/TrEMBL
  ENST00000696851.1 UniProtKB/Swiss-Prot
  ENST00000696852.1 UniProtKB/TrEMBL
  ENST00000696853.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000168310 GTEx
HGNC ID HGNC:6117 ENTREZGENE
Human Proteome Map IRF2 Human Proteome Map
InterPro Interferon_reg_fac_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Interferon_reg_fact_DNA-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IRF1/IRF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3660 UniProtKB/Swiss-Prot
NCBI Gene 3660 ENTREZGENE
OMIM 147576 OMIM
PANTHER COILED-COIL DOMAIN CONTAINING 122 UniProtKB/TrEMBL
  INTERFERON REGULATORY FACTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IRF TRYPTOPHAN PENTAD REPEAT DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  PRIMATE-EXPANDED PROTEIN FAMILY UniProtKB/TrEMBL
  PTHR11949:SF22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam IRF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29916 PharmGKB
PIRSF IFN_RF1/2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS F138DOMAIN UniProtKB/TrEMBL
  INTFRNREGFCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE IRF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IRF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IRF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8Q3SIV4_HUMAN UniProtKB/TrEMBL
  A0A8Q3SIZ2_HUMAN UniProtKB/TrEMBL
  A0A8Q3SIZ8_HUMAN UniProtKB/TrEMBL
  A0A8Q3SJ30_HUMAN UniProtKB/TrEMBL
  D6R9N5_HUMAN UniProtKB/TrEMBL
  D6RB08_HUMAN UniProtKB/TrEMBL
  D6RCK5 ENTREZGENE
  D6RED1_HUMAN UniProtKB/TrEMBL
  H0Y8S3 ENTREZGENE
  H0Y956_HUMAN UniProtKB/TrEMBL
  IRF2_HUMAN UniProtKB/Swiss-Prot
  K4DIA4 ENTREZGENE, UniProtKB/TrEMBL
  K4DIA5_HUMAN UniProtKB/TrEMBL
  L8E7Q0_HUMAN UniProtKB/TrEMBL
  P14316 ENTREZGENE
  Q6IAS7 ENTREZGENE
  Q96B99 ENTREZGENE
UniProt Secondary D6RCK5 UniProtKB/Swiss-Prot
  H0Y8S3 UniProtKB/Swiss-Prot
  Q6IAS7 UniProtKB/Swiss-Prot
  Q96B99 UniProtKB/Swiss-Prot