IFNA4 (interferon alpha 4) - Rat Genome Database

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Gene: IFNA4 (interferon alpha 4) Homo sapiens
Analyze
Symbol: IFNA4
Name: interferon alpha 4
RGD ID: 1314896
HGNC Page HGNC:5425
Description: Predicted to enable cytokine activity and type I interferon receptor binding activity. Predicted to be involved in several processes, including B cell activation; lymphocyte activation involved in immune response; and positive regulation of peptidyl-serine phosphorylation of STAT protein. Predicted to be located in extracellular region. Predicted to be active in extracellular space.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: IFN-alpha-4; IFN-alpha4a; INFA4; interferon alpha-4; interferon alpha-4B; interferon alpha-76; interferon alpha-M1; interferon, alpha 4; MGC142200
RGD Orthologs
Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38921,186,618 - 21,187,587 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl921,186,618 - 21,187,587 (-)EnsemblGRCh38hg38GRCh38
GRCh37921,186,617 - 21,187,586 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36921,176,693 - 21,177,670 (-)NCBINCBI36Build 36hg18NCBI36
Build 34921,176,692 - 21,177,670NCBI
Celera921,124,915 - 21,125,896 (-)NCBICelera
Cytogenetic Map9p21.3NCBI
HuRef921,149,768 - 21,150,749 (-)NCBIHuRef
CHM1_1921,186,422 - 21,187,403 (-)NCBICHM1_1
T2T-CHM13v2.0921,200,472 - 21,201,441 (-)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
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1381203   PMID:1385305   PMID:1708818   PMID:1905933   PMID:2014240   PMID:2552026   PMID:3891272   PMID:4057246   PMID:6089830   PMID:7510216   PMID:7511078   PMID:7526537  
PMID:7532202   PMID:7583919   PMID:7815507   PMID:7904170   PMID:7913356   PMID:8345204   PMID:8438572   PMID:8661419   PMID:8668211   PMID:8764000   PMID:9108403   PMID:9181467  
PMID:9225992   PMID:9335434   PMID:9343822   PMID:9425112   PMID:9520456   PMID:9658081   PMID:9865497   PMID:11694501   PMID:12089333   PMID:12477932   PMID:15163721   PMID:15164053  
PMID:15481145   PMID:15489334   PMID:16160188   PMID:16278001   PMID:16375755   PMID:16418394   PMID:17180012   PMID:17360657   PMID:18005734   PMID:18200009   PMID:18200012   PMID:18272764  
PMID:18414664   PMID:18672082   PMID:19004943   PMID:19559726   PMID:19706714   PMID:20096141   PMID:20237496   PMID:20588308   PMID:21873635   PMID:22315404   PMID:22739040   PMID:22814248  
PMID:23100517   PMID:23255800   PMID:25416956   PMID:25972534   PMID:26000985   PMID:26186194   PMID:28514442   PMID:30936491   PMID:32111355   PMID:33961781  


Genomics

Comparative Map Data
IFNA4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38921,186,618 - 21,187,587 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl921,186,618 - 21,187,587 (-)EnsemblGRCh38hg38GRCh38
GRCh37921,186,617 - 21,187,586 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36921,176,693 - 21,177,670 (-)NCBINCBI36Build 36hg18NCBI36
Build 34921,176,692 - 21,177,670NCBI
Celera921,124,915 - 21,125,896 (-)NCBICelera
Cytogenetic Map9p21.3NCBI
HuRef921,149,768 - 21,150,749 (-)NCBIHuRef
CHM1_1921,186,422 - 21,187,403 (-)NCBICHM1_1
T2T-CHM13v2.0921,200,472 - 21,201,441 (-)NCBIT2T-CHM13v2.0
Ifna4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85108,115,064 - 108,116,010 (-)NCBIGRCr8
mRatBN7.25103,069,174 - 103,070,120 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5103,069,483 - 103,070,052 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5105,424,191 - 105,424,760 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05107,214,640 - 107,215,209 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05107,275,278 - 107,275,847 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05106,922,563 - 106,923,132 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5106,922,563 - 106,923,132 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05110,900,533 - 110,901,102 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45107,886,554 - 107,887,123 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15107,891,779 - 107,892,349 (-)NCBI
Celera5100,046,719 - 100,047,288 (+)NCBICelera
Cytogenetic Map5q32NCBI

Variants

.
Variants in IFNA4
19 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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-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(chr9:204193-38741440)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 9p24.3-13.1(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(chr9:193412-138114463)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
NM_021068.2(IFNA4):c.177C>T (p.Phe59=) single nucleotide variant Malignant melanoma [RCV000061920] Chr9:21187355 [GRCh38]
Chr9:21187354 [GRCh37]
Chr9:21177354 [NCBI36]
Chr9:9p21.3		 not provided
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 9p21.3(chr9:20687770-21309178)x1 copy number loss See cases [RCV000137295] Chr9:20687770..21309178 [GRCh38]
Chr9:20687769..21309177 [GRCh37]
Chr9:20677769..21299177 [NCBI36]
Chr9:9p21.3		 uncertain significance
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 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 9p24.3-13.1(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 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 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
chr9:21187003-21228040 complex variant complex Breast ductal adenocarcinoma [RCV000207117] Chr9:21187003..21228040 [GRCh37]
Chr9:9p21.3		 uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207325] Chr9:21187121..21207037 [GRCh37]
Chr9:9p21.3		 uncertain significance
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 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 9p21.3(chr9:21186825-21216929)x1 copy number loss See cases [RCV000449109] Chr9:21186825..21216929 [GRCh37]
Chr9:9p21.3		 likely benign
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 9p21.3(chr9:20684175-21312153)x1 copy number loss See cases [RCV000511958] Chr9:20684175..21312153 [GRCh37]
Chr9:9p21.3		 uncertain significance
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
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-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 9p24.3-11.2(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-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 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 9p24.3-13.1(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-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-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
NM_021068.4(IFNA4):c.103A>G (p.Arg35Gly) single nucleotide variant not provided [RCV000965102] Chr9:21187429 [GRCh38]
Chr9:21187428 [GRCh37]
Chr9:9p21.3		 benign
GRCh37/hg19 9p21.3(chr9:21041507-21285666)x1 copy number loss not provided [RCV001006224] Chr9:21041507..21285666 [GRCh37]
Chr9:9p21.3		 uncertain significance
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 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(chr9:20715401-22136489) copy number loss not provided [RCV000767562] Chr9:20715401..22136489 [GRCh37]
Chr9:9p21.3		 pathogenic
GRCh37/hg19 9p21.3(chr9:20684175-21308693)x1 copy number loss not provided [RCV000847176] Chr9:20684175..21308693 [GRCh37]
Chr9:9p21.3		 uncertain significance
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 9p21.3(chr9:20829681-22069144)x3 copy number gain not provided [RCV001006222] Chr9:20829681..22069144 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_021068.4(IFNA4):c.220G>A (p.Ala74Thr) single nucleotide variant not provided [RCV001616727] Chr9:21187312 [GRCh38]
Chr9:21187311 [GRCh37]
Chr9:9p21.3		 benign
NM_021068.4(IFNA4):c.410A>T (p.Glu137Val) single nucleotide variant not provided [RCV001636235] Chr9:21187122 [GRCh38]
Chr9:21187121 [GRCh37]
Chr9:9p21.3		 benign
NM_021068.4(IFNA4):c.141C>T (p.Ile47=) single nucleotide variant not provided [RCV000927436] Chr9:21187391 [GRCh38]
Chr9:21187390 [GRCh37]
Chr9:9p21.3		 likely benign
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 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NM_021068.4(IFNA4):c.60T>A (p.Cys20Ter) single nucleotide variant Multisystem inflammatory syndrome in children [RCV001779426] Chr9:21187472 [GRCh38]
Chr9:21187471 [GRCh37]
Chr9:9p21.3		 risk factor
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 9p24.3-13.3(chr9:676264-33743670) copy number gain not specified [RCV002053827] Chr9:676264..33743670 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 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 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-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 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 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3		 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
NM_021068.4(IFNA4):c.496G>A (p.Val166Ile) single nucleotide variant Inborn genetic diseases [RCV002990991] Chr9:21187036 [GRCh38]
Chr9:21187035 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_021068.4(IFNA4):c.383G>A (p.Gly128Glu) single nucleotide variant Inborn genetic diseases [RCV002734757] Chr9:21187149 [GRCh38]
Chr9:21187148 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_021068.4(IFNA4):c.29C>T (p.Ala10Val) single nucleotide variant Inborn genetic diseases [RCV002749969] Chr9:21187503 [GRCh38]
Chr9:21187502 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_021068.4(IFNA4):c.41T>A (p.Leu14His) single nucleotide variant Inborn genetic diseases [RCV003000683] Chr9:21187491 [GRCh38]
Chr9:21187490 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_021068.4(IFNA4):c.433A>G (p.Lys145Glu) single nucleotide variant Inborn genetic diseases [RCV002873194] Chr9:21187099 [GRCh38]
Chr9:21187098 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_021068.4(IFNA4):c.266A>G (p.Asn89Ser) single nucleotide variant Inborn genetic diseases [RCV002803389] Chr9:21187266 [GRCh38]
Chr9:21187265 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_021068.4(IFNA4):c.133G>C (p.Gly45Arg) single nucleotide variant Inborn genetic diseases [RCV002989722] Chr9:21187399 [GRCh38]
Chr9:21187398 [GRCh37]
Chr9:9p21.3		 likely benign
NM_021068.4(IFNA4):c.334C>A (p.Leu112Ile) single nucleotide variant Inborn genetic diseases [RCV002714648] Chr9:21187198 [GRCh38]
Chr9:21187197 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_021068.4(IFNA4):c.202G>A (p.Gly68Ser) single nucleotide variant Inborn genetic diseases [RCV002768975] Chr9:21187330 [GRCh38]
Chr9:21187329 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_021068.4(IFNA4):c.428T>C (p.Val143Ala) single nucleotide variant Inborn genetic diseases [RCV003202593] Chr9:21187104 [GRCh38]
Chr9:21187103 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_021068.4(IFNA4):c.354C>A (p.Asp118Glu) single nucleotide variant Inborn genetic diseases [RCV003283692] Chr9:21187178 [GRCh38]
Chr9:21187177 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_021068.4(IFNA4):c.231C>G (p.Ile77Met) single nucleotide variant Inborn genetic diseases [RCV003173698] Chr9:21187301 [GRCh38]
Chr9:21187300 [GRCh37]
Chr9:9p21.3		 uncertain significance
NM_021068.4(IFNA4):c.221C>T (p.Ala74Val) single nucleotide variant Inborn genetic diseases [RCV003357756] Chr9:21187311 [GRCh38]
Chr9:21187310 [GRCh37]
Chr9:9p21.3		 uncertain significance
GRCh37/hg19 9p21.3(chr9:20663642-21312153)x4 copy number gain not provided [RCV003485354] Chr9:20663642..21312153 [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
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:117
Count of miRNA genes:97
Interacting mature miRNAs:97
Transcripts:ENST00000421715
Prediction methods:Microtar, 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
RH47035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37921,206,021 - 21,206,145UniSTSGRCh37
GRCh37921,186,446 - 21,186,570UniSTSGRCh37
Build 36921,176,446 - 21,176,570RGDNCBI36
Celera921,124,744 - 21,124,868RGD
Celera921,144,319 - 21,144,443UniSTS
Cytogenetic Map9p22UniSTS
HuRef921,149,597 - 21,149,721UniSTS
HuRef921,169,174 - 21,169,298UniSTS
GeneMap99-GB4 RH Map962.98UniSTS
IFNA10_134  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37921,206,130 - 21,206,812UniSTSGRCh37
GRCh37921,186,555 - 21,187,246UniSTSGRCh37
Build 36921,176,555 - 21,177,246RGDNCBI36
Celera921,124,853 - 21,125,544RGD
Celera921,144,428 - 21,145,110UniSTS
HuRef921,149,706 - 21,150,397UniSTS
HuRef921,169,283 - 21,169,965UniSTS
SGC35314  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9p22UniSTS
GeneMap99-GB4 RH Map962.98UniSTS
Whitehead-RH Map963.7UniSTS
NCBI RH Map9225.3UniSTS
RH69109  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9p22UniSTS
GeneMap99-GB4 RH Map962.98UniSTS
NCBI RH Map9225.3UniSTS
UniSTS:486143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37921,186,812 - 21,187,586UniSTSGRCh37
Celera921,125,110 - 21,125,884UniSTS
HuRef921,149,963 - 21,150,737UniSTS


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
High
Medium
Low 1 4 2 1 2 1 1
Below cutoff 75 83 52 8 60 5 114 54 173 3 91 43 3 26 77

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000421715   ⟹   ENSP00000412897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl921,186,618 - 21,187,587 (-)Ensembl
RefSeq Acc Id: NM_021068   ⟹   NP_066546
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38921,186,618 - 21,187,587 (-)NCBI
GRCh37921,186,617 - 21,187,598 (-)RGD
Build 36921,176,693 - 21,177,670 (-)NCBI Archive
Celera921,124,915 - 21,125,896 (-)RGD
HuRef921,149,768 - 21,150,749 (-)ENTREZGENE
CHM1_1921,186,422 - 21,187,403 (-)NCBI
T2T-CHM13v2.0921,200,472 - 21,201,441 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_066546   ⟸   NM_021068
- Peptide Label: precursor
- UniProtKB: Q14CS4 (UniProtKB/Swiss-Prot),   P13358 (UniProtKB/Swiss-Prot),   Q5VV15 (UniProtKB/Swiss-Prot),   P05014 (UniProtKB/Swiss-Prot),   A0A7R8GUS8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000412897   ⟸   ENST00000421715

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P05014-F1-model_v2 AlphaFold P05014 1-189 view protein structure

Promoters
RGD ID:6850102
Promoter ID:EP14062
Type:single initiation site
Name:HS_IFNA4
Description:Interferon-alpha 4b, IFNA4 gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 46; Mammalian interferon alpha family
Experiment Methods:Nuclease protection with homologous sequence ladder; experiments; performed with closely related gene; Sequencing of a full-length cDNA; experiments performed with; closely related gene
Regulation:leukocytes; (induced by or strongly expressed in) viral infection
Position:No map positions available.

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5425 AgrOrtholog
COSMIC IFNA4 COSMIC
Ensembl Genes ENSG00000236637 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000421715 ENTREZGENE
  ENST00000421715.3 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1250.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000236637 GTEx
HGNC ID HGNC:5425 ENTREZGENE
Human Proteome Map IFNA4 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:3441 UniProtKB/Swiss-Prot
NCBI Gene 3441 ENTREZGENE
OMIM 147564 OMIM
PANTHER INTERFERON ALPHA-10-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11691 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Interferon UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29664 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 4-helical cytokines UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt A0A7R8GUS8 ENTREZGENE, UniProtKB/TrEMBL
  IFNA4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  P13358 ENTREZGENE
  Q14CS4 ENTREZGENE
  Q5VV15 ENTREZGENE
UniProt Secondary P13358 UniProtKB/Swiss-Prot
  Q14CS4 UniProtKB/Swiss-Prot
  Q5VV15 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-21 IFNA4  interferon alpha 4    interferon, alpha 4  Symbol and/or name change 5135510 APPROVED