IFNE (interferon epsilon) - Rat Genome Database

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Gene: IFNE (interferon epsilon) Homo sapiens
Analyze
Symbol: IFNE
Name: interferon epsilon
RGD ID: 1606106
HGNC Page HGNC:18163
Description: Predicted to enable cytokine activity and type I interferon receptor binding activity. Predicted to be involved in several processes, including B cell activation; defense response to other organism; and lymphocyte activation involved in immune response. Predicted to be located in extracellular region. Predicted to be active in extracellular space.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: IFN-E; IFN-epsilon; IFNE1; IFNT1; INFE1; interferon epsilon 1; interferon epsilon-1; interferon tau-1; interferon, epsilon; interferon-epsilon; MGC119018; MGC119020; PRO655
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: IFNNP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38921,480,839 - 21,482,313 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl921,480,839 - 21,482,313 (-)EnsemblGRCh38hg38GRCh38
GRCh37921,480,838 - 21,482,312 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36921,470,838 - 21,472,312 (-)NCBINCBI36Build 36hg18NCBI36
Celera921,419,150 - 21,420,624 (-)NCBICelera
Cytogenetic Map9p21.3NCBI
HuRef921,444,236 - 21,445,710 (-)NCBIHuRef
CHM1_1921,480,654 - 21,482,129 (-)NCBICHM1_1
T2T-CHM13v2.0921,495,017 - 21,496,491 (-)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
Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:12975309   PMID:15233997   PMID:15546383   PMID:17287131   PMID:17878351   PMID:18362232   PMID:18842358   PMID:20574843   PMID:20588308   PMID:20601674   PMID:21873635  
PMID:22565157   PMID:23802172   PMID:23851686   PMID:24023261   PMID:24055696   PMID:26555708   PMID:27942584   PMID:28045025   PMID:28514442   PMID:29905034   PMID:30936491   PMID:33961781  
PMID:35862222   PMID:36897927   PMID:37587335   PMID:38156399  


Genomics

Comparative Map Data
IFNE
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38921,480,839 - 21,482,313 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl921,480,839 - 21,482,313 (-)EnsemblGRCh38hg38GRCh38
GRCh37921,480,838 - 21,482,312 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36921,470,838 - 21,472,312 (-)NCBINCBI36Build 36hg18NCBI36
Celera921,419,150 - 21,420,624 (-)NCBICelera
Cytogenetic Map9p21.3NCBI
HuRef921,444,236 - 21,445,710 (-)NCBIHuRef
CHM1_1921,480,654 - 21,482,129 (-)NCBICHM1_1
T2T-CHM13v2.0921,495,017 - 21,496,491 (-)NCBIT2T-CHM13v2.0
Ifne
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39488,797,775 - 88,798,438 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl488,797,775 - 88,798,438 (-)EnsemblGRCm39 Ensembl
GRCm38488,879,538 - 88,880,201 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl488,879,538 - 88,880,201 (-)EnsemblGRCm38mm10GRCm38
MGSCv37488,525,442 - 88,526,105 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36488,350,769 - 88,351,432 (-)NCBIMGSCv36mm8
Celera487,361,557 - 87,362,220 (-)NCBICelera
Cytogenetic Map4C4NCBI
cM Map442.04NCBI
Ifne
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85108,687,443 - 108,688,103 (-)NCBIGRCr8
mRatBN7.25103,571,630 - 103,572,290 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5103,569,675 - 103,572,256 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5106,001,333 - 106,001,993 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05107,730,936 - 107,731,596 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05107,806,683 - 107,807,343 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05107,178,124 - 107,203,908 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5107,233,230 - 107,233,799 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05111,209,796 - 111,210,371 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45108,451,998 - 108,452,573 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera5102,299,136 - 102,302,428 (-)NCBICelera
Cytogenetic Map5q32NCBI
Ifne
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495547212,795,352 - 12,801,035 (-)NCBIChiLan1.0ChiLan1.0
IFNE
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v211103,020,217 - 103,078,310 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan19102,978,239 - 103,082,778 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0921,315,415 - 21,394,413 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1921,932,923 - 22,038,134 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl921,959,275 - 21,959,901 (-)Ensemblpanpan1.1panPan2
PanPan1.1 Ensembl921,959,275 - 21,959,901 (-)NCBIpanpan1.1panPan2
IFNE
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11140,879,658 - 40,880,883 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1139,548,976 - 39,553,319 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01141,818,693 - 41,823,034 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11140,493,271 - 40,494,500 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01140,380,346 - 40,381,575 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01140,990,911 - 40,995,258 (-)NCBIUU_Cfam_GSD_1.0
Ifne
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947155,470,975 - 155,471,615 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366523,140,568 - 3,141,122 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366523,140,568 - 3,141,122 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IFNE
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1201,221,665 - 201,227,047 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11201,219,848 - 201,228,361 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21224,419,123 - 224,441,395 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Ifne
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473625,459,387 - 25,460,055 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IFNE
13 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p21.3(chr9:21082471-23839529)x1 copy number loss See cases [RCV000052902] Chr9:21082471..23839529 [GRCh38]
Chr9:21082470..23839527 [GRCh37]
Chr9:21072470..23829527 [NCBI36]
Chr9:9p21.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 copy number gain See cases [RCV000053704] Chr9:204193..22086858 [GRCh38]
Chr9:204193..22086857 [GRCh37]
Chr9:194193..22076857 [NCBI36]
Chr9:9p24.3-21.3
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3 copy number gain See cases [RCV000053749] Chr9:9543538..30266463 [GRCh38]
Chr9:9543538..30266461 [GRCh37]
Chr9:9533538..30256461 [NCBI36]
Chr9:9p23-21.1
pathogenic
GRCh38/hg38 9p23-13.3(chr9:13526091-34261642)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|See cases [RCV000053750] Chr9:13526091..34261642 [GRCh38]
Chr9:13526090..34261640 [GRCh37]
Chr9:13516090..34251640 [NCBI36]
Chr9:9p23-13.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 copy number gain See cases [RCV000134037] Chr9:220257..29424848 [GRCh38]
Chr9:220257..29424846 [GRCh37]
Chr9:210257..29414846 [NCBI36]
Chr9:9p24.3-21.1
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12
pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 copy number gain See cases [RCV000136680] Chr9:4661872..27661572 [GRCh38]
Chr9:4661872..27661570 [GRCh37]
Chr9:4651872..27651570 [NCBI36]
Chr9:9p24.1-21.2
pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3 copy number gain See cases [RCV000138499] Chr9:459131..24207894 [GRCh38]
Chr9:459131..24207892 [GRCh37]
Chr9:449131..24197892 [NCBI36]
Chr9:9p24.3-21.3
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3
pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11
pathogenic
GRCh38/hg38 9p22.1-21.1(chr9:19564275-28106622)x1 copy number loss See cases [RCV000139905] Chr9:19564275..28106622 [GRCh38]
Chr9:19564273..28106620 [GRCh37]
Chr9:19554273..28096620 [NCBI36]
Chr9:9p22.1-21.1
pathogenic
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 copy number gain See cases [RCV000139621] Chr9:204104..27963369 [GRCh38]
Chr9:204104..27963367 [GRCh37]
Chr9:194104..27953367 [NCBI36]
Chr9:9p24.3-21.2
pathogenic
GRCh38/hg38 9p21.3(chr9:21150820-21517343)x3 copy number gain See cases [RCV000140758] Chr9:21150820..21517343 [GRCh38]
Chr9:21150819..21517342 [GRCh37]
Chr9:21140819..21507342 [NCBI36]
Chr9:9p21.3
likely benign
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p21.3(chr9:21435578-21645004)x1 copy number loss See cases [RCV000141797] Chr9:21435578..21645004 [GRCh38]
Chr9:21435577..21645003 [GRCh37]
Chr9:21425577..21635003 [NCBI36]
Chr9:9p21.3
uncertain significance
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 copy number gain See cases [RCV000141662] Chr9:203861..31423873 [GRCh38]
Chr9:203861..31423871 [GRCh37]
Chr9:193861..31413871 [NCBI36]
Chr9:9p24.3-21.1
pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1
uncertain significance
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3
pathogenic
NM_176891.5(IFNE):c.521G>A (p.Arg174Gln) single nucleotide variant Inborn genetic diseases [RCV003245131] Chr9:21481174 [GRCh38]
Chr9:21481173 [GRCh37]
Chr9:9p21.3
uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p21.3(chr9:20951885-22447709)x1 copy number loss See cases [RCV000448195] Chr9:20951885..22447709 [GRCh37]
Chr9:9p21.3
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p22.2-21.1(chr9:17684434-30889762)x3 copy number gain See cases [RCV000510665] Chr9:17684434..30889762 [GRCh37]
Chr9:9p22.2-21.1
pathogenic
GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3 copy number gain See cases [RCV000510425] Chr9:5900425..30008330 [GRCh37]
Chr9:9p24.1-21.1
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 copy number gain See cases [RCV000510986] Chr9:17132123..35567051 [GRCh37]
Chr9:9p22.2-13.3
pathogenic
NM_176891.5(IFNE):c.187C>G (p.Pro63Ala) single nucleotide variant Inborn genetic diseases [RCV003299497] Chr9:21481508 [GRCh38]
Chr9:21481507 [GRCh37]
Chr9:9p21.3
uncertain significance
NM_176891.5(IFNE):c.278G>A (p.Arg93Lys) single nucleotide variant Inborn genetic diseases [RCV003286694] Chr9:21481417 [GRCh38]
Chr9:21481416 [GRCh37]
Chr9:9p21.3
uncertain significance
GRCh37/hg19 9p23-21.2(chr9:10320113-26205565)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626433] Chr9:10320113..26205565 [GRCh37]
Chr9:9p23-21.2
drug response
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2
likely pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12
pathogenic
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 copy number gain not provided [RCV000683171] Chr9:203861..26397133 [GRCh37]
Chr9:9p24.3-21.2
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
Single allele duplication Schizophrenia [RCV000754362] Chr9:20655425..24580688 [GRCh38]
Chr9:9p21.3
likely pathogenic
GRCh37/hg19 9p21.3(chr9:20834837-22101120)x1 copy number loss not provided [RCV000748288] Chr9:20834837..22101120 [GRCh37]
Chr9:9p21.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3 copy number gain not provided [RCV000748062] Chr9:46587..22012051 [GRCh37]
Chr9:9p24.3-21.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.2-21.3(chr9:4420767-22195820)x3 copy number gain not provided [RCV000748122] Chr9:4420767..22195820 [GRCh37]
Chr9:9p24.2-21.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p21.3(chr9:20715401-22136489) copy number loss not provided [RCV000767562] Chr9:20715401..22136489 [GRCh37]
Chr9:9p21.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p21.3(chr9:20659492-22347440)x3 copy number gain not provided [RCV002473498] Chr9:20659492..22347440 [GRCh37]
Chr9:9p21.3
uncertain significance
GRCh37/hg19 9p21.3(chr9:20829681-22069144)x3 copy number gain not provided [RCV001006222] Chr9:20829681..22069144 [GRCh37]
Chr9:9p21.3
uncertain significance
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p21.3(chr9:21391297-23423892)x3 copy number gain not provided [RCV001259527] Chr9:21391297..23423892 [GRCh37]
Chr9:9p21.3
uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33
likely pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670) copy number gain not specified [RCV002053827] Chr9:676264..33743670 [GRCh37]
Chr9:9p24.3-13.3
pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32
pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1
likely pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13
pathogenic
NM_176891.5(IFNE):c.317C>T (p.Thr106Met) single nucleotide variant Inborn genetic diseases [RCV002778464] Chr9:21481378 [GRCh38]
Chr9:21481377 [GRCh37]
Chr9:9p21.3
likely benign
NM_176891.5(IFNE):c.328C>G (p.Leu110Val) single nucleotide variant Inborn genetic diseases [RCV002804020] Chr9:21481367 [GRCh38]
Chr9:21481366 [GRCh37]
Chr9:9p21.3
uncertain significance
NM_176891.5(IFNE):c.445C>G (p.Arg149Gly) single nucleotide variant Inborn genetic diseases [RCV002742379] Chr9:21481250 [GRCh38]
Chr9:21481249 [GRCh37]
Chr9:9p21.3
uncertain significance
NM_176891.5(IFNE):c.446G>A (p.Arg149Gln) single nucleotide variant Inborn genetic diseases [RCV002897764] Chr9:21481249 [GRCh38]
Chr9:21481248 [GRCh37]
Chr9:9p21.3
likely benign
NM_176891.5(IFNE):c.253C>T (p.Leu85Phe) single nucleotide variant Inborn genetic diseases [RCV002921101] Chr9:21481442 [GRCh38]
Chr9:21481441 [GRCh37]
Chr9:9p21.3
uncertain significance
NM_176891.5(IFNE):c.50C>T (p.Thr17Ile) single nucleotide variant Inborn genetic diseases [RCV003190199] Chr9:21481645 [GRCh38]
Chr9:21481644 [GRCh37]
Chr9:9p21.3
uncertain significance
NM_176891.5(IFNE):c.404T>C (p.Leu135Ser) single nucleotide variant Inborn genetic diseases [RCV003173640] Chr9:21481291 [GRCh38]
Chr9:21481290 [GRCh37]
Chr9:9p21.3
uncertain significance
NM_176891.5(IFNE):c.310A>G (p.Asn104Asp) single nucleotide variant Inborn genetic diseases [RCV003203652] Chr9:21481385 [GRCh38]
Chr9:21481384 [GRCh37]
Chr9:9p21.3
uncertain significance
NM_176891.5(IFNE):c.327C>A (p.Phe109Leu) single nucleotide variant Inborn genetic diseases [RCV003376058] Chr9:21481368 [GRCh38]
Chr9:21481367 [GRCh37]
Chr9:9p21.3
uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_176891.5(IFNE):c.435A>T (p.Lys145Asn) single nucleotide variant IFNE-related condition [RCV003904015] Chr9:21481260 [GRCh38]
Chr9:21481259 [GRCh37]
Chr9:9p21.3
likely benign
NM_176891.5(IFNE):c.391C>A (p.Leu131Ile) single nucleotide variant Inborn genetic diseases [RCV003359043] Chr9:21481304 [GRCh38]
Chr9:21481303 [GRCh37]
Chr9:9p21.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:95
Count of miRNA genes:83
Interacting mature miRNAs:84
Transcripts:ENST00000448696
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
IFNT1_2211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37921,480,902 - 21,481,693UniSTSGRCh37
Build 36921,470,902 - 21,471,693RGDNCBI36
Celera921,419,214 - 21,420,005RGD
HuRef921,444,300 - 21,445,091UniSTS
UniSTS:484186  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37921,481,058 - 21,481,699UniSTSGRCh37
Celera921,419,370 - 21,420,011UniSTS
HuRef921,444,456 - 21,445,097UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 3 4 1 4 3 5 17 6
Low 408 12 684 37 118 13 78 21 703 127 447 586 34 43 11
Below cutoff 573 627 384 183 313 63 1069 249 1878 195 637 602 121 490 460 3

Sequence


RefSeq Acc Id: ENST00000448696   ⟹   ENSP00000418018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl921,480,839 - 21,482,313 (-)Ensembl
RefSeq Acc Id: NM_176891   ⟹   NP_795372
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38921,480,839 - 21,482,313 (-)NCBI
GRCh37921,480,838 - 21,482,312 (-)RGD
Build 36921,470,838 - 21,472,312 (-)NCBI Archive
Celera921,419,150 - 21,420,624 (-)RGD
HuRef921,444,236 - 21,445,710 (-)ENTREZGENE
CHM1_1921,480,654 - 21,482,129 (-)NCBI
T2T-CHM13v2.0921,495,017 - 21,496,491 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_795372 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI00872 (Get FASTA)   NCBI Sequence Viewer  
  AAI00873 (Get FASTA)   NCBI Sequence Viewer  
  AAI00874 (Get FASTA)   NCBI Sequence Viewer  
  AAO38686 (Get FASTA)   NCBI Sequence Viewer  
  AAQ88933 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000418018
  ENSP00000418018.2
GenBank Protein Q86WN2 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_795372   ⟸   NM_176891
- Peptide Label: precursor
- UniProtKB: Q86WN2 (UniProtKB/Swiss-Prot),   A0A7R8GUQ9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000418018   ⟸   ENST00000448696

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86WN2-F1-model_v2 AlphaFold Q86WN2 1-208 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18163 AgrOrtholog
COSMIC IFNE COSMIC
Ensembl Genes ENSG00000184995 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000448696 ENTREZGENE
  ENST00000448696.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1250.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000184995 GTEx
HGNC ID HGNC:18163 ENTREZGENE
Human Proteome Map IFNE Human Proteome Map
InterPro 4_helix_cytokine-like_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Interferon_alpha/beta/delta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:338376 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 338376 ENTREZGENE
OMIM 615223 OMIM
PANTHER INTERFERON EPSILON UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11691 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Interferon UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164720874 PharmGKB
PRINTS INTERFERONAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE INTERFERON_A_B_D UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IFabd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47266 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7R8GUQ9 ENTREZGENE, UniProtKB/TrEMBL
  IFNE_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-21 IFNE  interferon epsilon    interferon, epsilon  Symbol and/or name change 5135510 APPROVED