FMOD (fibromodulin) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: FMOD (fibromodulin) Homo sapiens
Analyze
Symbol: FMOD
Name: fibromodulin
RGD ID: 1353289
HGNC Page HGNC:3774
Description: Predicted to be an extracellular matrix structural constituent conferring compression resistance. Predicted to be involved in transforming growth factor beta receptor complex assembly. Located in collagen-containing extracellular matrix and extracellular space. Biomarker of gingivitis and periodontitis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: collagen-binding 59 kDa protein; fibromodulin proteoglycan; FM; keratan sulfate proteoglycan fibromodulin; KSPG fibromodulin; SLRR2E
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381203,340,628 - 203,351,122 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1203,340,628 - 203,351,758 (-)EnsemblGRCh38hg38GRCh38
GRCh371203,309,756 - 203,320,250 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361201,576,375 - 201,586,912 (-)NCBINCBI36Build 36hg18NCBI36
Build 341200,041,413 - 200,049,060NCBI
Celera1176,439,022 - 176,449,562 (-)NCBICelera
Cytogenetic Map1q32.1NCBI
HuRef1174,474,902 - 174,485,714 (-)NCBIHuRef
CHM1_11204,732,638 - 204,743,449 (-)NCBICHM1_1
T2T-CHM13v2.01202,603,493 - 202,613,991 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP,ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
arsenous acid  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
butanal  (EXP)
capsaicin  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
cisplatin  (EXP)
cobalt atom  (EXP)
crocidolite asbestos  (ISO)
Cuprizon  (ISO)
decabromodiphenyl ether  (EXP)
deoxynivalenol  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP,ISO)
diazepam  (EXP)
diclofenac  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
entinostat  (EXP)
ethylparaben  (EXP)
fluoxetine  (ISO)
fulvestrant  (EXP)
furan  (ISO)
gentamycin  (ISO)
glycidol  (ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
inulin  (ISO)
methimazole  (ISO)
methotrexate  (EXP)
methoxychlor  (ISO)
microcystin-LR  (ISO)
monosodium L-glutamate  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenytoin  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
propanal  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sulfadimethoxine  (ISO)
T-2 toxin  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
Tungsten carbide  (EXP)
urethane  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Functional and molecular alterations of the glomerular barrier in long-term diabetes in mice. Jeansson M, etal., Diabetologia. 2006 Sep;49(9):2200-9. Epub 2006 Jul 26.
3. Sustained expression of proteoglycans and collagen type III/type I ratio in a calcified tendinopathy model. Lui PP, etal., Rheumatology (Oxford). 2009 Dec 2.
4. Immunohistochemical localization and expression of fibromodulin in adult rat periodontium and inflamed human gingiva. Qian H, etal., Oral Dis. 2004 Jul;10(4):233-9.
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Small proteoglycans in human diabetic nephropathy: discrepancy between glomerular expression and protein accumulation of decorin, biglycan, lumican, and fibromodulin. Schaefer L, etal., FASEB J. 2001 Mar;15(3):559-61. Epub 2001 Jan 19.
Additional References at PubMed
PMID:7851907   PMID:7919526   PMID:8093006   PMID:8357838   PMID:8889548   PMID:9573366   PMID:9688269   PMID:11012890   PMID:11400162   PMID:12477932   PMID:14702039   PMID:15471955  
PMID:15592176   PMID:15741214   PMID:16046396   PMID:16123076   PMID:16344560   PMID:17117407   PMID:17252022   PMID:17293598   PMID:17395685   PMID:17623650   PMID:18448071   PMID:18620607  
PMID:18838168   PMID:19008226   PMID:19041686   PMID:19242838   PMID:19422643   PMID:19474808   PMID:19536175   PMID:19700767   PMID:19710942   PMID:20551380   PMID:20813009   PMID:21671058  
PMID:21743019   PMID:21873635   PMID:22073367   PMID:22099931   PMID:22138190   PMID:22622142   PMID:23251661   PMID:24355922   PMID:24552666   PMID:25011449   PMID:26125412   PMID:26318878  
PMID:26600400   PMID:26893379   PMID:27068509   PMID:27212030   PMID:27503909   PMID:27559042   PMID:28215822   PMID:28514442   PMID:29392829   PMID:30002123   PMID:30052659   PMID:30176167  
PMID:31305260   PMID:32220183   PMID:32530577   PMID:33887734   PMID:33961781   PMID:34247360   PMID:35156780   PMID:35686032   PMID:35737114   PMID:35982394   PMID:38113892  


Genomics

Comparative Map Data
FMOD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381203,340,628 - 203,351,122 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1203,340,628 - 203,351,758 (-)EnsemblGRCh38hg38GRCh38
GRCh371203,309,756 - 203,320,250 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361201,576,375 - 201,586,912 (-)NCBINCBI36Build 36hg18NCBI36
Build 341200,041,413 - 200,049,060NCBI
Celera1176,439,022 - 176,449,562 (-)NCBICelera
Cytogenetic Map1q32.1NCBI
HuRef1174,474,902 - 174,485,714 (-)NCBIHuRef
CHM1_11204,732,638 - 204,743,449 (-)NCBICHM1_1
T2T-CHM13v2.01202,603,493 - 202,613,991 (-)NCBIT2T-CHM13v2.0
Fmod
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391133,964,992 - 133,976,018 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1133,964,992 - 133,976,015 (+)EnsemblGRCm39 Ensembl
GRCm381134,037,254 - 134,048,280 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1134,037,254 - 134,048,277 (+)EnsemblGRCm38mm10GRCm38
MGSCv371135,934,092 - 135,944,854 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361135,853,926 - 135,864,688 (+)NCBIMGSCv36mm8
Celera1136,653,909 - 136,670,078 (+)NCBICelera
Cytogenetic Map1E4NCBI
cM Map158.09NCBI
Fmod
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81348,045,567 - 48,056,184 (+)NCBIGRCr8
mRatBN7.21345,493,517 - 45,504,134 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1345,493,517 - 45,504,133 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1348,101,962 - 48,112,556 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01349,390,009 - 49,400,605 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01346,654,575 - 46,665,165 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01350,874,886 - 50,885,503 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1350,873,605 - 50,885,563 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01355,927,583 - 55,939,041 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41346,987,714 - 46,998,331 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11347,001,756 - 47,012,373 (+)NCBI
Celera1345,822,144 - 45,832,470 (+)NCBICelera
RH 3.4 Map13184.4RGD
Cytogenetic Map13q13NCBI
Fmod
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540639,328,743 - 39,340,258 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540639,328,743 - 39,340,113 (-)NCBIChiLan1.0ChiLan1.0
FMOD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2146,026,552 - 46,037,305 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1145,993,588 - 46,004,297 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01178,942,472 - 178,953,158 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11183,236,412 - 183,247,057 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1183,238,130 - 183,244,074 (-)Ensemblpanpan1.1panPan2
FMOD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.138102,106 - 112,267 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl38103,230 - 112,154 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha38192,095 - 202,277 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03898,889 - 109,072 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3898,893 - 108,988 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13891,412 - 101,593 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.038485,490 - 495,671 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.038699,365 - 709,547 (-)NCBIUU_Cfam_GSD_1.0
Fmod
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934472,036,724 - 72,047,975 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365671,271,252 - 1,282,841 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365671,271,401 - 1,282,651 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FMOD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl964,063,001 - 64,073,858 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1964,062,995 - 64,073,853 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2970,356,603 - 70,367,308 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FMOD
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12525,992,006 - 26,002,909 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2525,992,228 - 26,003,109 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605526,768,097 - 26,779,048 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fmod
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248077,507,449 - 7,518,636 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248077,507,670 - 7,518,076 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FMOD
29 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11		 pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13		 pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 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
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_002023.5(FMOD):c.118G>A (p.Asp40Asn) single nucleotide variant Inborn genetic diseases [RCV003304225] Chr1:203348153 [GRCh38]
Chr1:203317281 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_002023.5(FMOD):c.667C>T (p.Arg223Trp) single nucleotide variant Inborn genetic diseases [RCV003311208] Chr1:203347604 [GRCh38]
Chr1:203316732 [GRCh37]
Chr1:1q32.1		 uncertain significance
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 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41		 pathogenic
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 copy number gain not provided [RCV001249273] Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2		 not provided
NM_002023.5(FMOD):c.1060G>C (p.Glu354Gln) single nucleotide variant Inborn genetic diseases [RCV003293203] Chr1:203342414 [GRCh38]
Chr1:203311542 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_002023.5(FMOD):c.161C>G (p.Pro54Arg) single nucleotide variant Inborn genetic diseases [RCV003269776] Chr1:203348110 [GRCh38]
Chr1:203317238 [GRCh37]
Chr1:1q32.1		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NC_000001.10:g.(?_200522516)_(206945780_?)dup duplication Epilepsy, familial adult myoclonic, 5 [RCV003116306] Chr1:200522516..206945780 [GRCh37]
Chr1:1q32.1		 uncertain significance
NC_000001.10:g.(?_200522516)_(208391267_?)dup duplication Hypokalemic periodic paralysis, type 1 [RCV003119239]|not provided [RCV003119240] Chr1:200522516..208391267 [GRCh37]
Chr1:1q32.1-32.2		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_002023.5(FMOD):c.292A>C (p.Lys98Gln) single nucleotide variant Inborn genetic diseases [RCV003260016] Chr1:203347979 [GRCh38]
Chr1:203317107 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_002023.5(FMOD):c.775G>A (p.Val259Ile) single nucleotide variant Inborn genetic diseases [RCV002772898] Chr1:203347496 [GRCh38]
Chr1:203316624 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_002023.5(FMOD):c.151G>C (p.Glu51Gln) single nucleotide variant Inborn genetic diseases [RCV002902120] Chr1:203348120 [GRCh38]
Chr1:203317248 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_002023.5(FMOD):c.748T>C (p.Tyr250His) single nucleotide variant Inborn genetic diseases [RCV002906123] Chr1:203347523 [GRCh38]
Chr1:203316651 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_002023.5(FMOD):c.151G>A (p.Glu51Lys) single nucleotide variant Inborn genetic diseases [RCV002734617] Chr1:203348120 [GRCh38]
Chr1:203317248 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_002023.5(FMOD):c.5A>G (p.Gln2Arg) single nucleotide variant Inborn genetic diseases [RCV002974546] Chr1:203348266 [GRCh38]
Chr1:203317394 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_002023.5(FMOD):c.437T>C (p.Val146Ala) single nucleotide variant Inborn genetic diseases [RCV002733322] Chr1:203347834 [GRCh38]
Chr1:203316962 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 copy number gain not provided [RCV002475637] Chr1:181453460..213107248 [GRCh37]
Chr1:1q25.3-32.3		 pathogenic
NM_002023.5(FMOD):c.799G>C (p.Ala267Pro) single nucleotide variant Inborn genetic diseases [RCV002687033] Chr1:203347472 [GRCh38]
Chr1:203316600 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_002023.5(FMOD):c.412G>A (p.Gly138Ser) single nucleotide variant Inborn genetic diseases [RCV002705193] Chr1:203347859 [GRCh38]
Chr1:203316987 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_002023.5(FMOD):c.160C>T (p.Pro54Ser) single nucleotide variant Inborn genetic diseases [RCV002887611] Chr1:203348111 [GRCh38]
Chr1:203317239 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_002023.5(FMOD):c.715C>A (p.Pro239Thr) single nucleotide variant Inborn genetic diseases [RCV002887385] Chr1:203347556 [GRCh38]
Chr1:203316684 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_002023.5(FMOD):c.835A>G (p.Ser279Gly) single nucleotide variant Inborn genetic diseases [RCV002931124] Chr1:203347436 [GRCh38]
Chr1:203316564 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_002023.5(FMOD):c.241G>A (p.Asp81Asn) single nucleotide variant Inborn genetic diseases [RCV002767059] Chr1:203348030 [GRCh38]
Chr1:203317158 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_002023.5(FMOD):c.417C>A (p.Asn139Lys) single nucleotide variant Inborn genetic diseases [RCV002939686] Chr1:203347854 [GRCh38]
Chr1:203316982 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_002023.5(FMOD):c.781G>A (p.Asp261Asn) single nucleotide variant Inborn genetic diseases [RCV003010541] Chr1:203347490 [GRCh38]
Chr1:203316618 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_002023.5(FMOD):c.214G>C (p.Asp72His) single nucleotide variant Inborn genetic diseases [RCV002878136] Chr1:203348057 [GRCh38]
Chr1:203317185 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_002023.5(FMOD):c.439G>A (p.Gly147Ser) single nucleotide variant Inborn genetic diseases [RCV002675184] Chr1:203347832 [GRCh38]
Chr1:203316960 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_002023.5(FMOD):c.707G>A (p.Arg236Gln) single nucleotide variant Inborn genetic diseases [RCV002680314] Chr1:203347564 [GRCh38]
Chr1:203316692 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_002023.5(FMOD):c.976A>C (p.Asn326His) single nucleotide variant Inborn genetic diseases [RCV003379571] Chr1:203347295 [GRCh38]
Chr1:203316423 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_002023.5(FMOD):c.527G>A (p.Arg176Gln) single nucleotide variant Inborn genetic diseases [RCV003361616] Chr1:203347744 [GRCh38]
Chr1:203316872 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_002023.5(FMOD):c.226T>G (p.Cys76Gly) single nucleotide variant Inborn genetic diseases [RCV003369280] Chr1:203348045 [GRCh38]
Chr1:203317173 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_002023.5(FMOD):c.569G>A (p.Arg190Gln) single nucleotide variant Inborn genetic diseases [RCV003378190] Chr1:203347702 [GRCh38]
Chr1:203316830 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1 copy number loss not specified [RCV003986384] Chr1:197216705..203683110 [GRCh37]
Chr1:1q31.3-32.1		 likely pathogenic
GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3 copy number gain not specified [RCV003986684] Chr1:199373229..204335027 [GRCh37]
Chr1:1q32.1		 likely pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR21hsa-miR-21-5pMirtarbaseexternal_infoWestern blotFunctional MTI19906824

Predicted Target Of
Summary Value
Count of predictions:1165
Count of miRNA genes:662
Interacting mature miRNAs:734
Transcripts:ENST00000354955, ENST00000461936, ENST00000493296
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
AL009327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371203,313,684 - 203,313,800UniSTSGRCh37
Build 361201,580,307 - 201,580,423RGDNCBI36
Celera1176,442,954 - 176,443,070RGD
Cytogenetic Map1q32UniSTS
HuRef1174,478,838 - 174,478,954UniSTS
G34807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371203,309,843 - 203,309,986UniSTSGRCh37
Build 361201,576,466 - 201,576,609RGDNCBI36
Celera1176,439,113 - 176,439,256RGD
Cytogenetic Map1q32UniSTS
HuRef1174,474,996 - 174,475,139UniSTS
D1S3290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371203,309,843 - 203,309,944UniSTSGRCh37
Build 361201,576,466 - 201,576,567RGDNCBI36
Celera1176,439,113 - 176,439,214RGD
Cytogenetic Map1q32UniSTS
HuRef1174,474,996 - 174,475,097UniSTS
GeneMap99-G3 RH Map17818.0UniSTS
G54027  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371203,309,925 - 203,310,062UniSTSGRCh37
Build 361201,576,548 - 201,576,685RGDNCBI36
Celera1176,439,195 - 176,439,332RGD
Cytogenetic Map1q32UniSTS
HuRef1174,475,078 - 174,475,215UniSTS
SHGC-132049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371203,309,775 - 203,310,078UniSTSGRCh37
Build 361201,576,398 - 201,576,701RGDNCBI36
Celera1176,439,045 - 176,439,348RGD
Cytogenetic Map1q32UniSTS
HuRef1174,474,928 - 174,475,231UniSTS
TNG Radiation Hybrid Map133582.0UniSTS
SHGC-156039  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371203,315,135 - 203,315,454UniSTSGRCh37
Build 361201,581,758 - 201,582,077RGDNCBI36
Celera1176,444,407 - 176,444,726RGD
Cytogenetic Map1q32UniSTS
HuRef1174,480,291 - 174,480,610UniSTS
TNG Radiation Hybrid Map133493.0UniSTS
FMOD__6742  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371203,309,765 - 203,310,449UniSTSGRCh37
Build 361201,576,388 - 201,577,072RGDNCBI36
Celera1176,439,035 - 176,439,719RGD
HuRef1174,474,918 - 174,475,602UniSTS
WI-7331  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371203,310,239 - 203,310,564UniSTSGRCh37
Build 361201,576,862 - 201,577,187RGDNCBI36
Celera1176,439,509 - 176,439,834RGD
Cytogenetic Map1q32UniSTS
HuRef1174,475,392 - 174,475,717UniSTS
GeneMap99-GB4 RH Map1670.85UniSTS
Whitehead-RH Map1826.8UniSTS
Whitehead-YAC Contig Map1 UniSTS
RH70538  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371203,310,093 - 203,310,230UniSTSGRCh37
Build 361201,576,716 - 201,576,853RGDNCBI36
Celera1176,439,363 - 176,439,500RGD
Cytogenetic Map1q32UniSTS
HuRef1174,475,246 - 174,475,383UniSTS
GeneMap99-GB4 RH Map1670.77UniSTS
AL009277  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371203,313,684 - 203,313,820UniSTSGRCh37
Build 361201,580,307 - 201,580,443RGDNCBI36
Celera1176,442,954 - 176,443,090RGD
Cytogenetic Map1q32UniSTS
HuRef1174,478,838 - 174,478,974UniSTS
RH71292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371203,311,404 - 203,311,582UniSTSGRCh37
Build 361201,578,027 - 201,578,205RGDNCBI36
Celera1176,440,674 - 176,440,852RGD
Cytogenetic Map1q32UniSTS
HuRef1174,476,557 - 174,476,735UniSTS
GeneMap99-GB4 RH Map1666.51UniSTS
NCBI RH Map11737.4UniSTS
FMOD  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371203,316,946 - 203,317,145UniSTSGRCh37
Celera1176,446,219 - 176,446,418UniSTS
HuRef1174,482,103 - 174,482,302UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 201 33 1 4 1 1 31
Medium 2311 1770 1305 279 591 117 3420 1267 985 190 1054 1401 164 1 1203 2128 3 2
Low 51 433 391 326 266 325 776 902 2235 176 334 50 3 629 1
Below cutoff 28 572 15 11 773 12 84 12 483 30 20 64 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_002023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_103757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK092899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK172740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL542756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ183885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ188750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA918421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC296345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH958029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U05291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X75546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000354955   ⟹   ENSP00000347041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1203,340,628 - 203,351,122 (-)Ensembl
RefSeq Acc Id: ENST00000461936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1203,342,183 - 203,351,086 (-)Ensembl
RefSeq Acc Id: ENST00000493296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1203,341,337 - 203,351,088 (-)Ensembl
RefSeq Acc Id: ENST00000647586   ⟹   ENSP00000496856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1203,340,661 - 203,351,758 (-)Ensembl
RefSeq Acc Id: NM_002023   ⟹   NP_002014
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381203,340,628 - 203,351,122 (-)NCBI
GRCh371203,309,749 - 203,320,557 (-)NCBI
Build 361201,576,375 - 201,586,912 (-)NCBI Archive
HuRef1174,474,902 - 174,485,714 (-)NCBI
CHM1_11204,732,638 - 204,743,449 (-)NCBI
T2T-CHM13v2.01202,603,493 - 202,613,991 (-)NCBI
Sequence:
RefSeq Acc Id: NR_103757
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381203,340,628 - 203,351,122 (-)NCBI
GRCh371203,309,749 - 203,320,557 (-)NCBI
HuRef1174,474,902 - 174,485,714 (-)NCBI
CHM1_11204,732,638 - 204,743,449 (-)NCBI
T2T-CHM13v2.01202,603,493 - 202,613,991 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047416304   ⟹   XP_047272260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381203,340,628 - 203,351,122 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_002014   ⟸   NM_002023
- Peptide Label: precursor
- UniProtKB: Q15331 (UniProtKB/Swiss-Prot),   Q8IV47 (UniProtKB/Swiss-Prot),   Q06828 (UniProtKB/Swiss-Prot),   A0A024R971 (UniProtKB/TrEMBL),   A0A384N636 (UniProtKB/TrEMBL),   B4E1J3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000347041   ⟸   ENST00000354955
RefSeq Acc Id: ENSP00000496856   ⟸   ENST00000647586
RefSeq Acc Id: XP_047272260   ⟸   XM_047416304
- Peptide Label: isoform X1
- UniProtKB: Q15331 (UniProtKB/Swiss-Prot),   Q06828 (UniProtKB/Swiss-Prot),   Q8IV47 (UniProtKB/Swiss-Prot),   A0A384N636 (UniProtKB/TrEMBL),   A0A024R971 (UniProtKB/TrEMBL)
Protein Domains
LRRNT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q06828-F1-model_v2 AlphaFold Q06828 1-376 view protein structure

Promoters
RGD ID:6858632
Promoter ID:EPDNEW_H2481
Type:initiation region
Name:FMOD_1
Description:fibromodulin
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
GRCh381203,351,122 - 203,351,182EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3774 AgrOrtholog
COSMIC FMOD COSMIC
Ensembl Genes ENSG00000122176 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000354955 ENTREZGENE
  ENST00000354955.5 UniProtKB/Swiss-Prot
  ENST00000647586.1 UniProtKB/TrEMBL
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000122176 GTEx
HGNC ID HGNC:3774 ENTREZGENE
Human Proteome Map FMOD Human Proteome Map
InterPro Leu-rich_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRNT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2331 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2331 ENTREZGENE
OMIM 600245 OMIM
PANTHER AGAP008170-PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR45712:SF4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LRR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRNT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28190 PharmGKB
PROSITE LRR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LRR_BAC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_TYP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRNT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP L domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R971 ENTREZGENE, UniProtKB/TrEMBL
  A0A384N636 ENTREZGENE
  A0A3B3IRN5_HUMAN UniProtKB/TrEMBL
  B3KS64_HUMAN UniProtKB/TrEMBL
  B4E1J3 ENTREZGENE, UniProtKB/TrEMBL
  FMOD_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q12833_HUMAN UniProtKB/TrEMBL
  Q15331 ENTREZGENE
  Q8IV47 ENTREZGENE
UniProt Secondary A0A384N636 UniProtKB/TrEMBL
  Q15331 UniProtKB/Swiss-Prot
  Q8IV47 UniProtKB/Swiss-Prot