FLG (filaggrin) - Rat Genome Database
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Gene: FLG (filaggrin) Homo sapiens
Analyze
Symbol: FLG
Name: filaggrin
RGD ID: 737239
HGNC Page HGNC
Description: A structural constituent of skin epidermis. Involved in establishment of skin barrier and peptide cross-linking. Localizes to cornified envelope; cytoplasmic ribonucleoprotein granule; and keratohyalin granule. Implicated in atopic dermatitis 2 and ichthyosis vulgaris.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATOD2; epidermal filaggrin
RGD Orthologs
Mouse
Rat
Bonobo
Dog
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
GRCh38.p13 Ensembl1152,302,165 - 152,325,239 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1152,302,175 - 152,325,203 (-)EnsemblGRCh38hg38GRCh38
GRCh381152,302,165 - 152,325,239 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371152,274,651 - 152,297,679 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361150,541,275 - 150,564,303 (-)NCBINCBI36hg18NCBI36
Celera1125,386,606 - 125,408,667 (-)NCBI
Cytogenetic Map1q21.3NCBI
HuRef1123,649,333 - 123,671,391 (-)NCBIHuRef
CHM1_11153,670,002 - 153,693,030 (-)NCBICHM1_1
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
1,3,5-trinitro-1,3,5-triazinane  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,5-trichlorophenol  (EXP)
2,4-Dihydroxybenzophenone  (EXP)
4-Hydroxybenzophenone  (EXP)
9-cis-retinoic acid  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-4-oxoretinoic acid  (EXP)
all-trans-retinoic acid  (EXP)
alpha-naphthoflavone  (EXP)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
avobenzone  (EXP)
benzalkonium chloride  (ISO)
benzo[a]pyrene  (EXP)
beta-damascenone  (ISO)
beta-naphthoflavone  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
Butylbenzyl phthalate  (EXP)
C60 fullerene  (ISO)
cadmium atom  (EXP)
calcipotriol  (EXP)
calcitriol  (EXP)
clofibrate  (ISO)
dibutyl phthalate  (EXP)
diethyl phthalate  (EXP)
diethylstilbestrol  (ISO)
diisobutyl phthalate  (EXP)
diisononyl phthalate  (EXP)
dimethylarsinic acid  (ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
doxorubicin  (EXP)
folic acid  (EXP,ISO)
fucoxanthin  (ISO)
fulvestrant  (EXP)
indole-3-methanol  (ISO)
isotretinoin  (EXP)
lucanthone  (EXP)
methylparaben  (EXP)
mono(2-ethyl-5-hydroxyhexyl) phthalate  (EXP)
mono(2-ethyl-5-oxohexyl) phthalate  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
mono(5-carboxy-2-ethylpentyl) phthalate  (EXP)
monobenzyl phthalate  (EXP)
Monobutylphthalate  (EXP)
monoethyl phthalate  (EXP)
N-acetyl-L-cysteine  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
oxybenzone  (EXP)
paracetamol  (ISO)
phenacetin  (ISO)
phenylhydrazine  (ISO)
pirinixic acid  (ISO)
propylparaben  (EXP)
quercitrin  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
testosterone  (EXP)
trans-urocanic acid  (EXP)
urocanic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1429717   PMID:2043621   PMID:2248957   PMID:2579164   PMID:2740331   PMID:4132224   PMID:6174530   PMID:7543090   PMID:8270625   PMID:8417356   PMID:8780679   PMID:9886436  
PMID:11279517   PMID:11380615   PMID:12230510   PMID:12838398   PMID:12850301   PMID:15675958   PMID:16261374   PMID:16550169   PMID:16570058   PMID:16710414   PMID:16810297   PMID:16815158  
PMID:16990802   PMID:17008875   PMID:17096018   PMID:17195011   PMID:17255953   PMID:17291859   PMID:17301831   PMID:17380114   PMID:17410197   PMID:17417636   PMID:17502856   PMID:17531295  
PMID:17581619   PMID:17657246   PMID:17684752   PMID:17704059   PMID:17704064   PMID:17970802   PMID:17980411   PMID:17989887   PMID:18005116   PMID:18007582   PMID:18032906   PMID:18049447  
PMID:18068483   PMID:18073125   PMID:18094728   PMID:18172455   PMID:18176743   PMID:18193244   PMID:18200065   PMID:18239616   PMID:18305568   PMID:18307574   PMID:18313126   PMID:18325573  
PMID:18384254   PMID:18385759   PMID:18396323   PMID:18420385   PMID:18521703   PMID:18565177   PMID:18578563   PMID:18620134   PMID:18637008   PMID:18760831   PMID:18769192   PMID:18774391  
PMID:18818676   PMID:18843291   PMID:18976374   PMID:18987673   PMID:19037238   PMID:19134432   PMID:19183181   PMID:19239468   PMID:19247692   PMID:19348926   PMID:19408338   PMID:19492053  
PMID:19501237   PMID:19515043   PMID:19538184   PMID:19538357   PMID:19550302   PMID:19589816   PMID:19601982   PMID:19601998   PMID:19602001   PMID:19615732   PMID:19663875   PMID:19681860  
PMID:19720210   PMID:19733298   PMID:19785597   PMID:19804695   PMID:19839980   PMID:19863505   PMID:19874431   PMID:19958351   PMID:20016199   PMID:20028371   PMID:20109745   PMID:20132155  
PMID:20149601   PMID:20159264   PMID:20179351   PMID:20208004   PMID:20222934   PMID:20230798   PMID:20346018   PMID:20426775   PMID:20445547   PMID:20500796   PMID:20513523   PMID:20573035  
PMID:20621340   PMID:20629673   PMID:20686498   PMID:20800603   PMID:20814636   PMID:20865458   PMID:20943104   PMID:20962854   PMID:20975288   PMID:21039602   PMID:21074596   PMID:21137118  
PMID:21145461   PMID:21166815   PMID:21219289   PMID:21255094   PMID:21261659   PMID:21289640   PMID:21326297   PMID:21365004   PMID:21410766   PMID:21426411   PMID:21434976   PMID:21496060  
PMID:21501248   PMID:21514438   PMID:21518425   PMID:21576945   PMID:21630459   PMID:21666691   PMID:21692775   PMID:21701148   PMID:21723775   PMID:21777221   PMID:21790526   PMID:21800051  
PMID:21873635   PMID:21923666   PMID:21923691   PMID:21945601   PMID:21983738   PMID:21991953   PMID:21999178   PMID:22030464   PMID:22071473   PMID:22088612   PMID:22158554   PMID:22177328  
PMID:22182180   PMID:22220561   PMID:22229441   PMID:22288457   PMID:22299762   PMID:22322004   PMID:22360978   PMID:22381027   PMID:22403702   PMID:22407025   PMID:22418870   PMID:22612618  
PMID:22622429   PMID:22635822   PMID:22742591   PMID:22897780   PMID:22903496   PMID:22921868   PMID:22951058   PMID:22960809   PMID:22962861   PMID:22964107   PMID:22989708   PMID:23039796  
PMID:23063684   PMID:23078034   PMID:23152869   PMID:23154627   PMID:23166590   PMID:23273645   PMID:23290076   PMID:23297869   PMID:23301728   PMID:23343419   PMID:23403047   PMID:23421459  
PMID:23443559   PMID:23460889   PMID:23537643   PMID:23548340   PMID:23568457   PMID:23601069   PMID:23622014   PMID:23629652   PMID:23645350   PMID:23657503   PMID:23684069   PMID:23744309  
PMID:23848345   PMID:23867897   PMID:23886662   PMID:23927042   PMID:23947670   PMID:24054371   PMID:24061166   PMID:24102300   PMID:24111531   PMID:24157460   PMID:24247645   PMID:24251354  
PMID:24369804   PMID:24401911   PMID:24457600   PMID:24521637   PMID:24565632   PMID:24628370   PMID:24629053   PMID:24708301   PMID:24726196   PMID:24813994   PMID:24819286   PMID:24858702  
PMID:24880632   PMID:24905740   PMID:24912553   PMID:24920311   PMID:24940654   PMID:25065719   PMID:25086748   PMID:25174864   PMID:25230061   PMID:25277085   PMID:25282568   PMID:25314673  
PMID:25324306   PMID:25383447   PMID:25390410   PMID:25528737   PMID:25564772   PMID:25580797   PMID:25581911   PMID:25620092   PMID:25659224   PMID:25660180   PMID:25678087   PMID:25712346  
PMID:25734812   PMID:25747786   PMID:25757221   PMID:25776938   PMID:25816564   PMID:25863977   PMID:25997159   PMID:26026341   PMID:26071937   PMID:26186194   PMID:26282804   PMID:26381575  
PMID:26451970   PMID:26472199   PMID:26536977   PMID:26544073   PMID:26554544   PMID:26616205   PMID:26725010   PMID:26796858   PMID:26830116   PMID:26831231   PMID:26835886   PMID:26867960  
PMID:26934939   PMID:27012026   PMID:27120251   PMID:27173435   PMID:27270549   PMID:27304082   PMID:27306066   PMID:27363669   PMID:27366014   PMID:27485743   PMID:27498358   PMID:27535066  
PMID:27577213   PMID:27591049   PMID:27653621   PMID:27667308   PMID:27678121   PMID:27793761   PMID:27805415   PMID:27840886   PMID:27864930   PMID:27902816   PMID:27995642   PMID:28000306  
PMID:28120571   PMID:28164424   PMID:28213896   PMID:28317091   PMID:28338939   PMID:28344315   PMID:28358172   PMID:28407221   PMID:28455573   PMID:28456621   PMID:28479194   PMID:28502108  
PMID:28514442   PMID:28644349   PMID:28833578   PMID:28866311   PMID:28928464   PMID:28977666   PMID:29056476   PMID:29068602   PMID:29087092   PMID:29266469   PMID:29281699   PMID:29344612  
PMID:29369340   PMID:29377073   PMID:29428354   PMID:29459738   PMID:29507755   PMID:29569866   PMID:29791750   PMID:29857066   PMID:29987050   PMID:30021884   PMID:30195067   PMID:30246302  
PMID:30370609   PMID:30399560   PMID:30403182   PMID:30515983   PMID:30681730   PMID:30745168   PMID:30810250   PMID:30868611   PMID:31206209   PMID:31249362   PMID:31300519   PMID:31322196  
PMID:31372728   PMID:31406141   PMID:31425296   PMID:31586073   PMID:31629803   PMID:31637781   PMID:31782153   PMID:32066784   PMID:32124743   PMID:32437351  


Genomics

Comparative Map Data
FLG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1152,302,165 - 152,325,239 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1152,302,175 - 152,325,203 (-)EnsemblGRCh38hg38GRCh38
GRCh381152,302,165 - 152,325,239 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371152,274,651 - 152,297,679 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361150,541,275 - 150,564,303 (-)NCBINCBI36hg18NCBI36
Celera1125,386,606 - 125,408,667 (-)NCBI
Cytogenetic Map1q21.3NCBI
HuRef1123,649,333 - 123,671,391 (-)NCBIHuRef
CHM1_11153,670,002 - 153,693,030 (-)NCBICHM1_1
Flg
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39393,180,853 - 93,200,996 (+)NCBIGRCm39mm39
GRCm38393,273,546 - 93,293,689 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl393,273,523 - 93,293,686 (+)EnsemblGRCm38mm10GRCm38
MGSCv37393,089,108 - 93,097,615 (+)NCBIGRCm37mm9NCBIm37
MGSCv36393,367,872 - 93,379,097 (+)NCBImm8
Celera393,804,333 - 93,822,603 (-)NCBICelera
Cytogenetic Map3F2.1NCBI
cM Map340.16NCBI
Flg
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.02193,565,401 - 193,574,297 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02211,289,344 - 211,294,588 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42186,307,359 - 186,311,549 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12186,259,903 - 186,260,929 (+)NCBI
Celera2171,386,515 - 171,395,603 (-)NCBICelera
Cytogenetic Map2q34NCBI
FLG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11131,276,648 - 131,285,336 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01127,634,416 - 127,649,659 (-)NCBIMhudiblu_PPA_v0panPan3
FLG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11761,217,915 - 61,233,068 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1

Position Markers
D1S1653  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371157,932,774 - 157,932,881UniSTSGRCh37
Build 361156,199,398 - 156,199,505RGDNCBI36
Celera1131,004,178 - 131,004,281RGD
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p13UniSTS
Cytogenetic Map1q21.3UniSTS
HuRef1129,290,751 - 129,290,854UniSTS
Marshfield Genetic Map1164.09RGD
Marshfield Genetic Map1164.09UniSTS
deCODE Assembly Map1151.68UniSTS
Whitehead-RH Map1697.6UniSTS
Whitehead-YAC Contig Map1 UniSTS
D1S252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371117,556,772 - 117,556,878UniSTSGRCh37
Build 361117,358,295 - 117,358,401RGDNCBI36
Celera1115,785,354 - 115,785,460RGD
Cytogenetic Map1p13UniSTS
Cytogenetic Map1q21.3UniSTS
HuRef1115,415,423 - 115,415,531UniSTS
Marshfield Genetic Map1150.27UniSTS
Marshfield Genetic Map1150.27RGD
Genethon Genetic Map1155.1UniSTS
deCODE Assembly Map1139.16UniSTS
Whitehead-YAC Contig Map1 UniSTS
D1S3436  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371152,274,804 - 152,275,141UniSTSGRCh37
Build 361150,541,428 - 150,541,765RGDNCBI36
Celera1125,386,759 - 125,387,096RGD
Cytogenetic Map1q21.3UniSTS
HuRef1123,649,486 - 123,649,823UniSTS
Whitehead-YAC Contig Map1 UniSTS
GeneMap99-G3 RH Map16146.0UniSTS
SHGC-144331  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21.3UniSTS
UniSTS:485881  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371152,286,346 - 152,287,955UniSTSGRCh37
Celera1125,397,334 - 125,398,943UniSTS
HuRef1123,660,056 - 123,661,665UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:112
Count of miRNA genes:104
Interacting mature miRNAs:108
Transcripts:ENST00000368799
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.


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 28 2 26
Medium 7 1 2 10 1 1268 3 10 10 58 14 11 3 669 1
Low 570 648 688 50 68 26 861 343 816 138 762 725 31 227 664
Below cutoff 1747 2272 892 437 1263 311 2035 1808 2822 215 541 739 130 974 1426 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF043380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS673440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS690823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB665576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM706788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN184345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN184346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN184347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN184348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN184349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN184350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L01090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M24355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M96943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000368799   ⟹   ENSP00000357789
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1152,302,165 - 152,325,239 (-)Ensembl
RefSeq Acc Id: NM_002016   ⟹   NP_002007
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381152,302,165 - 152,325,239 (-)NCBI
GRCh371152,274,651 - 152,297,679 (-)ENTREZGENE
Build 361150,541,275 - 150,564,303 (-)NCBI Archive
HuRef1123,649,333 - 123,671,391 (-)ENTREZGENE
CHM1_11153,670,002 - 153,693,030 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_002007 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36487 (Get FASTA)   NCBI Sequence Viewer  
  AAA52454 (Get FASTA)   NCBI Sequence Viewer  
  AAA60176 (Get FASTA)   NCBI Sequence Viewer  
  AAA60177 (Get FASTA)   NCBI Sequence Viewer  
  AAA63243 (Get FASTA)   NCBI Sequence Viewer  
  AAA63244 (Get FASTA)   NCBI Sequence Viewer  
  AAA63245 (Get FASTA)   NCBI Sequence Viewer  
  AAA63246 (Get FASTA)   NCBI Sequence Viewer  
  AAA63247 (Get FASTA)   NCBI Sequence Viewer  
  AAA63248 (Get FASTA)   NCBI Sequence Viewer  
  AAC23559 (Get FASTA)   NCBI Sequence Viewer  
  AFH55054 (Get FASTA)   NCBI Sequence Viewer  
  AFH55055 (Get FASTA)   NCBI Sequence Viewer  
  AFH55056 (Get FASTA)   NCBI Sequence Viewer  
  AFH55057 (Get FASTA)   NCBI Sequence Viewer  
  AFH55058 (Get FASTA)   NCBI Sequence Viewer  
  AFH55059 (Get FASTA)   NCBI Sequence Viewer  
  BAD92118 (Get FASTA)   NCBI Sequence Viewer  
  CAP07487 (Get FASTA)   NCBI Sequence Viewer  
  CAP11455 (Get FASTA)   NCBI Sequence Viewer  
  CAR97069 (Get FASTA)   NCBI Sequence Viewer  
  CAT82291 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43164 (Get FASTA)   NCBI Sequence Viewer  
  EAW53383 (Get FASTA)   NCBI Sequence Viewer  
  EAW53384 (Get FASTA)   NCBI Sequence Viewer  
  EAW53385 (Get FASTA)   NCBI Sequence Viewer  
  P20930 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_002007   ⟸   NM_002016
- UniProtKB: P20930 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000357789   ⟸   ENST00000368799
Protein Domains
EF-hand

Promoters
RGD ID:6857124
Promoter ID:EPDNEW_H1727
Type:multiple initiation site
Name:FLG_1
Description:filaggrin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381152,325,239 - 152,325,299EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002016.1(FLG):c.9595C>T (p.Gln3199Ter) single nucleotide variant not provided [RCV000521469] Chr1:152305291 [GRCh38]
Chr1:152277767 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.1501C>T (p.Arg501Ter) single nucleotide variant Dermatitis, atopic [RCV000787952]|Dermatitis, atopic, 2 [RCV000678332]|Dermatitis, atopic, 2 [RCV000763246]|Dermatitis, atopic, 2, susceptibility to [RCV000017713]|Eczema [RCV001270061]|FLG-related disorders [RCV001270780]|Ichthyosis vulgaris [RCV000017712]|not provided [RCV000255693] Chr1:152313385 [GRCh38]
Chr1:152285861 [GRCh37]
Chr1:1q21.3
pathogenic|likely pathogenic|risk factor
NM_002016.2(FLG):c.2282_2285del microsatellite Dermatitis, atopic, 2 [RCV000191085]|Dermatitis, atopic, 2 [RCV000678372]|Dermatitis, atopic, 2, susceptibility to [RCV000017715]|Eczema [RCV001270060]|FLG-Related Disorder [RCV000709934]|Ichthyosis vulgaris [RCV000017714]|not provided [RCV000256057] Chr1:152312601..152312604 [GRCh38]
Chr1:152285077..152285080 [GRCh37]
Chr1:1q21.3
pathogenic|likely pathogenic|risk factor|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
FLG, 1-BP DEL, 3321A deletion Ichthyosis vulgaris [RCV000017718]|Dermatitis, atopic, 2, susceptibility to [RCV000017719] Chr1:1q21 pathogenic|risk factor
NM_002016.1(FLG):c.487G>T (p.Gly163Ter) single nucleotide variant Dermatitis, atopic, 2 [RCV000763247]|not provided [RCV000627348] Chr1:152314399 [GRCh38]
Chr1:152286875 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.7661C>G (p.Ser2554Ter) single nucleotide variant Dermatitis, atopic, 2, susceptibility to [RCV000017717]|Ichthyosis vulgaris [RCV000017716] Chr1:152307225 [GRCh38]
Chr1:152279701 [GRCh37]
Chr1:1q21.3
pathogenic|risk factor
NM_002016.1(FLG):c.12064A>T (p.Lys4022Ter) single nucleotide variant Ichthyosis vulgaris [RCV000490507]|not provided [RCV000114742] Chr1:152302822 [GRCh38]
Chr1:152275298 [GRCh37]
Chr1:1q21.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_002016.1(FLG):c.1970C>G (p.Ser657Cys) single nucleotide variant Lung cancer [RCV000089759] Chr1:152312916 [GRCh38]
Chr1:152285392 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_002016.1(FLG):c.12138G>A (p.Ser4046=) single nucleotide variant Malignant melanoma [RCV000059880] Chr1:152302748 [GRCh38]
Chr1:152275224 [GRCh37]
Chr1:150541848 [NCBI36]
Chr1:1q21.3
not provided
NM_002016.1(FLG):c.9515G>A (p.Gly3172Glu) single nucleotide variant Malignant melanoma [RCV000059881] Chr1:152305371 [GRCh38]
Chr1:152277847 [GRCh37]
Chr1:150544471 [NCBI36]
Chr1:1q21.3
not provided
NM_002016.1(FLG):c.7683G>A (p.Arg2561=) single nucleotide variant Malignant melanoma [RCV000059882] Chr1:152307203 [GRCh38]
Chr1:152279679 [GRCh37]
Chr1:150546303 [NCBI36]
Chr1:1q21.3
not provided
NM_002016.1(FLG):c.1416G>A (p.Val472=) single nucleotide variant Malignant melanoma [RCV000059883] Chr1:152313470 [GRCh38]
Chr1:152285946 [GRCh37]
Chr1:150552570 [NCBI36]
Chr1:1q21.3
not provided
NM_002016.1(FLG):c.10256G>A (p.Arg3419Gln) single nucleotide variant Malignant melanoma [RCV000064153] Chr1:152304630 [GRCh38]
Chr1:152277106 [GRCh37]
Chr1:150543730 [NCBI36]
Chr1:1q21.3
not provided
NM_002016.1(FLG):c.9546C>T (p.His3182=) single nucleotide variant Malignant melanoma [RCV000064154] Chr1:152305340 [GRCh38]
Chr1:152277816 [GRCh37]
Chr1:150544440 [NCBI36]
Chr1:1q21.3
not provided
NM_002016.1(FLG):c.9335G>A (p.Gly3112Glu) single nucleotide variant Malignant melanoma [RCV000064155] Chr1:152305551 [GRCh38]
Chr1:152278027 [GRCh37]
Chr1:150544651 [NCBI36]
Chr1:1q21.3
not provided
NM_002016.1(FLG):c.4297G>A (p.Glu1433Lys) single nucleotide variant Malignant melanoma [RCV000064156] Chr1:152310589 [GRCh38]
Chr1:152283065 [GRCh37]
Chr1:150549689 [NCBI36]
Chr1:1q21.3
not provided
NM_002016.1(FLG):c.2556G>A (p.Arg852=) single nucleotide variant Malignant melanoma [RCV000064157] Chr1:152312330 [GRCh38]
Chr1:152284806 [GRCh37]
Chr1:150551430 [NCBI36]
Chr1:1q21.3
not provided
NM_002016.1(FLG):c.1531G>A (p.Glu511Lys) single nucleotide variant Malignant melanoma [RCV000064158] Chr1:152313355 [GRCh38]
Chr1:152285831 [GRCh37]
Chr1:150552455 [NCBI36]
Chr1:1q21.3
not provided
NM_002016.1(FLG):c.2379_2394delinsTCCTCAG (p.Leu794_Ser798delinsProGln) indel Dermatitis, atopic, 2 [RCV000660392] Chr1:152312492..152312507 [GRCh38]
Chr1:152284968..152284983 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_002016.1(FLG):c.11573G>A (p.Arg3858His) single nucleotide variant not specified [RCV000171158] Chr1:152303313 [GRCh38]
Chr1:152275789 [GRCh37]
Chr1:1q21.3
likely pathogenic|likely benign
NM_002016.2(FLG):c.2143C>T (p.Gln715Ter) single nucleotide variant Ichthyosis vulgaris [RCV000190587] Chr1:152312743 [GRCh38]
Chr1:152285219 [GRCh37]
Chr1:1q21.3
pathogenic
GRCh38/hg38 1q21.3(chr1:152267710-152436835)x1 copy number loss See cases [RCV000142196] Chr1:152267710..152436835 [GRCh38]
Chr1:152240186..152409311 [GRCh37]
Chr1:150506810..150675935 [NCBI36]
Chr1:1q21.3
uncertain significance
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
NM_002016.2(FLG):c.10324A>T single nucleotide variant Ichthyosis vulgaris [RCV001169996]|not provided [RCV000254718] Chr1:152304562 [GRCh38]
Chr1:152277038 [GRCh37]
Chr1:1q21.3
pathogenic|uncertain significance
NM_002016.1(FLG):c.7264G>T (p.Glu2422Ter) single nucleotide variant not provided [RCV000255031] Chr1:152307622 [GRCh38]
Chr1:152280098 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.2(FLG):c.2476C>T single nucleotide variant Dermatitis, atopic, 2 [RCV001255624]|FLG-related disorders [RCV001270779]|Ichthyosis vulgaris [RCV000986414]|not provided [RCV000255117] Chr1:152312410 [GRCh38]
Chr1:152284886 [GRCh37]
Chr1:1q21.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_002016.1(FLG):c.7487del (p.Thr2496fs) deletion not provided [RCV000400089] Chr1:152307399 [GRCh38]
Chr1:152279875 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.2218C>T (p.Arg740Ter) single nucleotide variant not provided [RCV000293346] Chr1:152312668 [GRCh38]
Chr1:152285144 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.2(FLG):c.9947C>G single nucleotide variant Ichthyosis vulgaris [RCV000991154]|not provided [RCV000293549] Chr1:152304939 [GRCh38]
Chr1:152277415 [GRCh37]
Chr1:1q21.3
pathogenic|likely pathogenic
NM_002016.1(FLG):c.94G>T (p.Glu32Ter) single nucleotide variant FLG-related disorders [RCV001270781]|Ichthyosis vulgaris [RCV000709724]|not provided [RCV000300225] Chr1:152315363 [GRCh38]
Chr1:152287839 [GRCh37]
Chr1:1q21.3
pathogenic|likely pathogenic
NM_002016.1(FLG):c.6109C>T (p.Arg2037Ter) single nucleotide variant not provided [RCV000261767] Chr1:152308777 [GRCh38]
Chr1:152281253 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.11246C>G (p.Ser3749Ter) single nucleotide variant not provided [RCV000277316] Chr1:152303640 [GRCh38]
Chr1:152276116 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.11452C>T (p.Gln3818Ter) single nucleotide variant not provided [RCV000365311] Chr1:152303434 [GRCh38]
Chr1:152275910 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.7339C>T (p.Arg2447Ter) single nucleotide variant Dermatitis, atopic, 2 [RCV000763245]|Dermatitis, atopic, 2 [RCV001253562]|Ichthyosis vulgaris [RCV000991155]|not provided [RCV000255655] Chr1:152307547 [GRCh38]
Chr1:152280023 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.2(FLG):c.9740C>A single nucleotide variant Dermatitis, atopic, 2 [RCV001263482]|Ichthyosis vulgaris [RCV000986413]|not provided [RCV000255466] Chr1:152305146 [GRCh38]
Chr1:152277622 [GRCh37]
Chr1:1q21.3
pathogenic|likely pathogenic
NM_002016.1(FLG):c.10225C>T (p.Arg3409Ter) single nucleotide variant not provided [RCV000255606] Chr1:152304661 [GRCh38]
Chr1:152277137 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.6239C>A (p.Ser2080Ter) single nucleotide variant Inborn genetic diseases [RCV000210631]|not provided [RCV000598981] Chr1:152308647 [GRCh38]
Chr1:152281123 [GRCh37]
Chr1:1q21.3
pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV000223957] Chr1:144927578..153223600 [GRCh37]
Chr1:1q21.1-21.3
pathogenic
NM_002016.1(FLG):c.779C>A (p.Ser260Ter) single nucleotide variant not provided [RCV000358958] Chr1:152314107 [GRCh38]
Chr1:152286583 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.4786C>T (p.Gln1596Ter) single nucleotide variant not provided [RCV000323173] Chr1:152310100 [GRCh38]
Chr1:152282576 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.2427G>A (p.Trp809Ter) single nucleotide variant not provided [RCV000335790] Chr1:152312459 [GRCh38]
Chr1:152284935 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.1063C>T (p.Gln355Ter) single nucleotide variant not provided [RCV000342574] Chr1:152313823 [GRCh38]
Chr1:152286299 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.7358C>A (p.Ser2453Ter) single nucleotide variant not provided [RCV000520009] Chr1:152307528 [GRCh38]
Chr1:152280004 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.5170G>T (p.Gly1724Ter) single nucleotide variant Dermatitis, atopic, 2 [RCV000626069] Chr1:152309716 [GRCh38]
Chr1:152282192 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.2929C>T (p.Gln977Ter) single nucleotide variant Ichthyosis vulgaris [RCV001254159]|not provided [RCV000255941] Chr1:152311957 [GRCh38]
Chr1:152284433 [GRCh37]
Chr1:1q21.3
pathogenic|likely pathogenic
NM_002016.1(FLG):c.7267_7268del (p.Gln2423fs) deletion not provided [RCV000256154] Chr1:152307618..152307619 [GRCh38]
Chr1:152280094..152280095 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.2362C>T (p.Arg788Ter) single nucleotide variant not provided [RCV000521641] Chr1:152312524 [GRCh38]
Chr1:152285000 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.7189C>T (p.Gln2397Ter) single nucleotide variant Ichthyosis vulgaris [RCV000490295] Chr1:152307697 [GRCh38]
Chr1:152280173 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.5717C>A (p.Ser1906Ter) single nucleotide variant Ichthyosis vulgaris [RCV000490339] Chr1:152309169 [GRCh38]
Chr1:152281645 [GRCh37]
Chr1:1q21.3
likely pathogenic
NM_002016.1(FLG):c.3905C>A (p.Ser1302Ter) single nucleotide variant Ichthyosis vulgaris [RCV000490412]|not provided [RCV000760421] Chr1:152310981 [GRCh38]
Chr1:152283457 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.9887C>A (p.Ser3296Ter) single nucleotide variant Ichthyosis vulgaris [RCV000490523]|not provided [RCV000519273] Chr1:152304999 [GRCh38]
Chr1:152277475 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.1297_1298del (p.Asp433fs) deletion not provided [RCV000490026] Chr1:152313588..152313589 [GRCh38]
Chr1:152286064..152286065 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.477dup (p.Glu160fs) duplication not provided [RCV000598732] Chr1:152314408..152314409 [GRCh38]
Chr1:152286884..152286885 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.4420C>T (p.Arg1474Ter) single nucleotide variant not provided [RCV000578668] Chr1:152310466 [GRCh38]
Chr1:152282942 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.8911A>T (p.Arg2971Ter) single nucleotide variant not provided [RCV000578721] Chr1:152305975 [GRCh38]
Chr1:152278451 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.660del (p.Gly221fs) deletion not provided [RCV000599043] Chr1:152314226 [GRCh38]
Chr1:152286702 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.7098_7101del (p.Ser2366fs) deletion not provided [RCV000598718] Chr1:152307785..152307788 [GRCh38]
Chr1:152280261..152280264 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.3250_3251delCA microsatellite not provided [RCV000599057] Chr1:152311635..152311636 [GRCh38]
Chr1:152284111..152284112 [GRCh37]
Chr1:1q21.3
likely pathogenic
NM_002016.1(FLG):c.3427G>T (p.Gly1143Ter) single nucleotide variant not provided [RCV000521438] Chr1:152311459 [GRCh38]
Chr1:152283935 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.5690del (p.His1897fs) deletion not provided [RCV000599268] Chr1:152309196 [GRCh38]
Chr1:152281672 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.9280del (p.Ala3094fs) deletion not provided [RCV000599358] Chr1:152305606 [GRCh38]
Chr1:152278082 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.5186C>G (p.Ser1729Ter) single nucleotide variant not provided [RCV000599553] Chr1:152309700 [GRCh38]
Chr1:152282176 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.10558C>T (p.Gln3520Ter) single nucleotide variant not provided [RCV000599437] Chr1:152304328 [GRCh38]
Chr1:152276804 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.745dup (p.Ser249fs) duplication not provided [RCV000599537] Chr1:152314140..152314141 [GRCh38]
Chr1:152286616..152286617 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.1826C>A (p.Ser609Ter) single nucleotide variant not provided [RCV000412715] Chr1:152313060 [GRCh38]
Chr1:152285536 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.11528C>G (p.Ser3843Ter) single nucleotide variant not provided [RCV000412869] Chr1:152303358 [GRCh38]
Chr1:152275834 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.4279G>A (p.Ala1427Thr) single nucleotide variant Ichthyosis vulgaris [RCV000415319] Chr1:152310607 [GRCh38]
Chr1:152283083 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_002016.1(FLG):c.4004_4005delAG microsatellite not provided [RCV000414010] Chr1:152310881..152310882 [GRCh38]
Chr1:152283357..152283358 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.5230C>T (p.Gln1744Ter) single nucleotide variant not provided [RCV000414080] Chr1:152309656 [GRCh38]
Chr1:152282132 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.3757G>T (p.Gly1253Ter) single nucleotide variant not provided [RCV000414116] Chr1:152311129 [GRCh38]
Chr1:152283605 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.2263G>A (p.Glu755Lys) single nucleotide variant not specified [RCV000427758] Chr1:152312623 [GRCh38]
Chr1:152285099 [GRCh37]
Chr1:1q21.3
benign
NM_002016.1(FLG):c.7249C>T (p.Gln2417Ter) single nucleotide variant not provided [RCV000434890] Chr1:152307637 [GRCh38]
Chr1:152280113 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.11851dup (p.His3951fs) duplication not provided [RCV000480909] Chr1:152303034..152303035 [GRCh38]
Chr1:152275510..152275511 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.3254_3257delCAGT microsatellite not provided [RCV000482142] Chr1:152311629..152311632 [GRCh38]
Chr1:152284105..152284108 [GRCh37]
Chr1:1q21.3
likely pathogenic
NM_002016.1(FLG):c.557dup (p.Asn186fs) duplication not provided [RCV000482898] Chr1:152314328..152314329 [GRCh38]
Chr1:152286804..152286805 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.899_903del (p.Asp300fs) deletion Ichthyosis vulgaris [RCV000477947] Chr1:152313983..152313987 [GRCh38]
Chr1:152286459..152286463 [GRCh37]
Chr1:1q21.3
likely pathogenic
NM_002016.1(FLG):c.3551C>A (p.Ser1184Ter) single nucleotide variant not provided [RCV000483623] Chr1:152311335 [GRCh38]
Chr1:152283811 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.5392C>T (p.Arg1798Ter) single nucleotide variant not provided [RCV000484307] Chr1:152309494 [GRCh38]
Chr1:152281970 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer) deletion not provided [RCV000484342] Chr1:152307929..152307936 [GRCh38]
Chr1:152280405..152280412 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.3837del (p.Ser1280fs) deletion not provided [RCV000484364] Chr1:152311049 [GRCh38]
Chr1:152283525 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.2906del (p.Asn969fs) deletion not provided [RCV000484378] Chr1:152311980 [GRCh38]
Chr1:152284456 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.9722del (p.Gly3241fs) deletion not provided [RCV000484399] Chr1:152305164 [GRCh38]
Chr1:152277640 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.2(FLG):c.4678C>T (p.Arg1560Cys) single nucleotide variant not specified [RCV000455475] Chr1:152310208 [GRCh38]
Chr1:152282684 [GRCh37]
Chr1:1q21.3
benign
NM_002016.1(FLG):c.10191del (p.Glu3397fs) deletion not provided [RCV000478664] Chr1:152304695 [GRCh38]
Chr1:152277171 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.2(FLG):c.2938C>G (p.His980Asp) single nucleotide variant not specified [RCV000456001] Chr1:152311948 [GRCh38]
Chr1:152284424 [GRCh37]
Chr1:1q21.3
benign
NM_002016.1(FLG):c.3702del (p.Ser1235fs) deletion not provided [RCV000479326] Chr1:152311184 [GRCh38]
Chr1:152283660 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.5930C>G (p.Ser1977Ter) single nucleotide variant not provided [RCV000486896] Chr1:152308956 [GRCh38]
Chr1:152281432 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.3321del (p.Gly1109fs) deletion Dermatitis, atopic, 2, susceptibility to [RCV000017719]|Ichthyosis vulgaris [RCV000017718]|not provided [RCV000487070] Chr1:152311565 [GRCh38]
Chr1:152284041 [GRCh37]
Chr1:1q21.3
pathogenic|risk factor
NM_002016.1(FLG):c.3892del (p.Ser1298fs) deletion not provided [RCV000498647] Chr1:152310994 [GRCh38]
Chr1:152283470 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.7081C>T (p.Arg2361Ter) single nucleotide variant not provided [RCV000498796] Chr1:152307805 [GRCh38]
Chr1:152280281 [GRCh37]
Chr1:1q21.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_002016.1(FLG):c.4785_4788del (p.Ser1595fs) deletion not provided [RCV000498102] Chr1:152310098..152310101 [GRCh38]
Chr1:152282574..152282577 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.5945_5946delCA microsatellite not provided [RCV000493525] Chr1:152308940..152308941 [GRCh38]
Chr1:152281416..152281417 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.11635C>T (p.Arg3879Ter) single nucleotide variant not provided [RCV000493665] Chr1:152303251 [GRCh38]
Chr1:152275727 [GRCh37]
Chr1:1q21.3
likely pathogenic
NM_002016.1(FLG):c.1248dup (p.Ser417fs) duplication not provided [RCV000494413] Chr1:152313637..152313638 [GRCh38]
Chr1:152286113..152286114 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.10969C>T (p.Arg3657Ter) single nucleotide variant not provided [RCV000493067] Chr1:152303917 [GRCh38]
Chr1:152276393 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.7031C>G (p.Ser2344Ter) single nucleotide variant Inborn genetic diseases [RCV000622390]|not provided [RCV000760852] Chr1:152307855 [GRCh38]
Chr1:152280331 [GRCh37]
Chr1:1q21.3
pathogenic
GRCh37/hg19 1q21.3(chr1:152250211-152402521)x1 copy number loss See cases [RCV000510750] Chr1:152250211..152402521 [GRCh37]
Chr1:1q21.3
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q21.3(chr1:152250211-152409311)x1 copy number loss See cases [RCV000510844] Chr1:152250211..152409311 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_002016.1(FLG):c.544A>T (p.Lys182Ter) single nucleotide variant Congenital cerebellar hypoplasia [RCV000626817] Chr1:152314342 [GRCh38]
Chr1:152286818 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.7801G>A (p.Asp2601Asn) single nucleotide variant Dermatitis, atopic, 2 [RCV000660391]|not provided [RCV000515059] Chr1:152307085 [GRCh38]
Chr1:152279561 [GRCh37]
Chr1:1q21.3
likely benign|uncertain significance
NM_002016.1(FLG):c.3510del (p.Ser1171fs) deletion not provided [RCV000522317] Chr1:152311376 [GRCh38]
Chr1:152283852 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.3010C>T (p.Gln1004Ter) single nucleotide variant not provided [RCV000578661] Chr1:152311876 [GRCh38]
Chr1:152284352 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.977G>A (p.Trp326Ter) single nucleotide variant not provided [RCV000579042] Chr1:152313909 [GRCh38]
Chr1:152286385 [GRCh37]
Chr1:1q21.3
pathogenic
GRCh37/hg19 1q21.3(chr1:152248315-152409311)x1 copy number loss See cases [RCV000512554] Chr1:152248315..152409311 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_002016.1(FLG):c.6682G>T (p.Gly2228Ter) single nucleotide variant not provided [RCV000627346] Chr1:152308204 [GRCh38]
Chr1:152280680 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.10012A>T (p.Ser3338Cys) single nucleotide variant Ichthyosis vulgaris [RCV001198184]|Palmoplantar hyperhidrosis [RCV000626816] Chr1:152304874 [GRCh38]
Chr1:152277350 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_002016.1(FLG):c.7358C>G (p.Ser2453Ter) single nucleotide variant not provided [RCV000658146] Chr1:152307528 [GRCh38]
Chr1:152280004 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.8117C>G (p.Ser2706Ter) single nucleotide variant not provided [RCV000657650] Chr1:152306769 [GRCh38]
Chr1:152279245 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.7837A>T (p.Arg2613Ter) single nucleotide variant not provided [RCV000657776] Chr1:152307049 [GRCh38]
Chr1:152279525 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.6032_6034del (p.Leu2011del) deletion Ichthyosis vulgaris [RCV000714803] Chr1:152308852..152308854 [GRCh38]
Chr1:152281328..152281330 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_002016.1(FLG):c.4544C>A (p.Ser1515Ter) single nucleotide variant not provided [RCV000677429] Chr1:152310342 [GRCh38]
Chr1:152282818 [GRCh37]
Chr1:1q21.3
likely pathogenic
GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3 copy number gain not provided [RCV000684655] Chr1:150853044..154647786 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.8486G>A (p.Arg2829His) single nucleotide variant not specified [RCV000736091] Chr1:152306400 [GRCh38]
Chr1:152278876 [GRCh37]
Chr1:1q21.3
likely benign
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q21.3(chr1:152259078-152412196)x1 copy number loss not provided [RCV000736692] Chr1:152259078..152412196 [GRCh37]
Chr1:1q21.3
benign
NM_002016.1(FLG):c.6276C>A (p.Tyr2092Ter) single nucleotide variant not provided [RCV000760881] Chr1:152308610 [GRCh38]
Chr1:152281086 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.11575C>T (p.Gln3859Ter) single nucleotide variant not provided [RCV000760338] Chr1:152303311 [GRCh38]
Chr1:152275787 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.3418C>T (p.Arg1140Ter) single nucleotide variant not provided [RCV000760422] Chr1:152311468 [GRCh38]
Chr1:152283944 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.3059C>G (p.Ser1020Ter) single nucleotide variant not provided [RCV000760537] Chr1:152311827 [GRCh38]
Chr1:152284303 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.3317G>A (p.Trp1106Ter) single nucleotide variant not provided [RCV000760609] Chr1:152311569 [GRCh38]
Chr1:152284045 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.1(FLG):c.6208C>T (p.Gln2070Ter) single nucleotide variant not provided [RCV000760676] Chr1:152308678 [GRCh38]
Chr1:152281154 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.2(FLG):c.6748G>A (p.Glu2250Lys) single nucleotide variant not provided [RCV000994101] Chr1:152308138 [GRCh38]
Chr1:152280614 [GRCh37]
Chr1:1q21.3
likely benign
NM_002016.2(FLG):c.9658G>C (p.Asp3220His) single nucleotide variant Ichthyosis vulgaris [RCV000856567] Chr1:152305228 [GRCh38]
Chr1:152277704 [GRCh37]
Chr1:1q21.3
benign
NM_002016.1(FLG):c.3154A>G (p.Arg1052Gly) single nucleotide variant not provided [RCV000838143] Chr1:152311732 [GRCh38]
Chr1:152284208 [GRCh37]
Chr1:1q21.3
likely benign
NM_002016.2(FLG):c.1360A>G (p.Thr454Ala) single nucleotide variant not specified [RCV000825068] Chr1:152313526 [GRCh38]
Chr1:152286002 [GRCh37]
Chr1:1q21.3
benign
NM_002016.2(FLG):c.10285G>T (p.Glu3429Ter) single nucleotide variant not provided [RCV000994100] Chr1:152304601 [GRCh38]
Chr1:152277077 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_002016.2(FLG):c.1432C>T (p.Pro478Ser) single nucleotide variant not specified [RCV000825067] Chr1:152313454 [GRCh38]
Chr1:152285930 [GRCh37]
Chr1:1q21.3
benign
GRCh37/hg19 1q21.3(chr1:151850071-152295520)x3 copy number gain not provided [RCV000846163] Chr1:151850071..152295520 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_002016.1(FLG):c.9520A>G (p.Ser3174Gly) single nucleotide variant not provided [RCV000840924] Chr1:152305366 [GRCh38]
Chr1:152277842 [GRCh37]
Chr1:1q21.3
benign
NM_002016.2(FLG):c.8885del (p.Gln2962fs) deletion Ichthyosis vulgaris [RCV000791075] Chr1:152306001 [GRCh38]
Chr1:152278477 [GRCh37]
Chr1:1q21.3
likely pathogenic
NM_002016.2(FLG):c.1830del (p.Arg612fs) deletion Inborn genetic diseases [RCV001267597]|not provided [RCV001009301] Chr1:152313056 [GRCh38]
Chr1:152285532 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.2(FLG):c.4808_4812dup (p.Glu1605fs) duplication not provided [RCV001009012] Chr1:152310073..152310074 [GRCh38]
Chr1:152282549..152282550 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.2(FLG):c.63del (p.Asp22fs) deletion not provided [RCV001008610] Chr1:152315394 [GRCh38]
Chr1:152287870 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.2(FLG):c.8053C>T (p.Arg2685Ter) single nucleotide variant not provided [RCV001008665] Chr1:152306833 [GRCh38]
Chr1:152279309 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.2(FLG):c.388_391del (p.Arg130fs) deletion not provided [RCV001009316] Chr1:152314495..152314498 [GRCh38]
Chr1:152286971..152286974 [GRCh37]
Chr1:1q21.3
pathogenic
GRCh37/hg19 1q21.3(chr1:151798754-152306536)x3 copy number gain not provided [RCV001005138] Chr1:151798754..152306536 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_002016.2(FLG):c.5841G>A (p.Trp1947Ter) single nucleotide variant not provided [RCV001007978] Chr1:152309045 [GRCh38]
Chr1:152281521 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.2(FLG):c.11035del (p.Val3679fs) deletion not provided [RCV001008420] Chr1:152303851 [GRCh38]
Chr1:152276327 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.2(FLG):c.9085C>T (p.Gln3029Ter) single nucleotide variant not provided [RCV001008674] Chr1:152305801 [GRCh38]
Chr1:152278277 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.2(FLG):c.3554T>C (p.Val1185Ala) single nucleotide variant not provided [RCV000994102] Chr1:152311332 [GRCh38]
Chr1:152283808 [GRCh37]
Chr1:1q21.3
likely benign
NM_002016.2(FLG):c.754G>A (p.Glu252Lys) single nucleotide variant not provided [RCV000994103] Chr1:152314132 [GRCh38]
Chr1:152286608 [GRCh37]
Chr1:1q21.3
likely benign
NM_002016.2(FLG):c.3222_3225del (p.Ser1074fs) deletion not provided [RCV001008117] Chr1:152311661..152311664 [GRCh38]
Chr1:152284137..152284140 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.2(FLG):c.10255C>T (p.Arg3419Ter) single nucleotide variant not provided [RCV001090407] Chr1:152304631 [GRCh38]
Chr1:152277107 [GRCh37]
Chr1:1q21.3
pathogenic
NM_002016.2(FLG):c.76G>A (p.Asp26Asn) single nucleotide variant not provided [RCV000886323] Chr1:152315381 [GRCh38]
Chr1:152287857 [GRCh37]
Chr1:1q21.3
benign
NM_002016.2(FLG):c.9815_9818del (p.Arg3272fs) deletion not provided [RCV001008323] Chr1:152305068..152305071 [GRCh38]
Chr1:152277544..152277547 [GRCh37]
Chr1:1q21.3
pathogenic
GRCh37/hg19 1q21.3(chr1:152227976-152312326)x1 copy number loss not provided [RCV001005140] Chr1:152227976..152312326 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_002016.2(FLG):c.4309C>T (p.Arg1437Cys) single nucleotide variant not provided [RCV001171763] Chr1:152310577 [GRCh38]
Chr1:152283053 [GRCh37]
Chr1:1q21.3
likely benign
NM_002016.2(FLG):c.10670G>A (p.Gly3557Glu) single nucleotide variant Ichthyosis vulgaris [RCV001195951] Chr1:152304216 [GRCh38]
Chr1:152276692 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_002016.2(FLG):c.5476G>T (p.Gly1826Ter) single nucleotide variant Ichthyosis vulgaris [RCV001262285] Chr1:152309410 [GRCh38]
Chr1:152281886 [GRCh37]
Chr1:1q21.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3748 AgrOrtholog
COSMIC FLG COSMIC
Ensembl Genes ENSG00000143631 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000357789 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000368799 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000143631 GTEx
HGNC ID HGNC:3748 ENTREZGENE
Human Proteome Map FLG Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Filaggrin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S-100_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S100/CaBP-9k_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S100_Ca-bd_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2312 UniProtKB/Swiss-Prot
NCBI Gene 2312 ENTREZGENE
OMIM 135940 OMIM
  146700 OMIM
  605803 OMIM
Pfam Filaggrin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S_100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28169 PharmGKB
PRINTS FILAGGRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S100_CABP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART S_100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.654510 ENTREZGENE
UniProt FILA_HUMAN UniProtKB/Swiss-Prot
  I0B0K3_HUMAN UniProtKB/TrEMBL
  I0B0K4_HUMAN UniProtKB/TrEMBL
  I0B0K5_HUMAN UniProtKB/TrEMBL
  I0B0K6_HUMAN UniProtKB/TrEMBL
  I0B0K7_HUMAN UniProtKB/TrEMBL
  I0B0K8_HUMAN UniProtKB/TrEMBL
  L8E7P6_HUMAN UniProtKB/TrEMBL
  P20930 ENTREZGENE
  Q03837_HUMAN UniProtKB/TrEMBL
  Q03838_HUMAN UniProtKB/TrEMBL
  Q03839_HUMAN UniProtKB/TrEMBL
  Q15206_HUMAN UniProtKB/TrEMBL
  Q16824_HUMAN UniProtKB/TrEMBL
  Q4JFL9_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q01720 UniProtKB/Swiss-Prot
  Q5T583 UniProtKB/Swiss-Prot
  Q9UC71 UniProtKB/Swiss-Prot