FBRS (fibrosin) - Rat Genome Database

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Gene: FBRS (fibrosin) Homo sapiens
Analyze
Symbol: FBRS
Name: fibrosin
RGD ID: 1342852
HGNC Page HGNC:20442
Description: Predicted to enable growth factor activity. Predicted to act upstream of or within positive regulation of fibroblast proliferation and signal transduction. Predicted to be located in extracellular space.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FBS; FBS1; fibrogenic lymphokine; fibrosin 1; Fibrosin-1; FLJ11618; probable fibrosin-1; probable fibrosin-1 long transcript protein
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
GRCh381630,658,431 - 30,670,810 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1630,658,431 - 30,670,810 (+)EnsemblGRCh38hg38GRCh38
GRCh371630,669,752 - 30,682,131 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361630,583,279 - 30,589,632 (+)NCBINCBI36Build 36hg18NCBI36
Build 341630,584,127 - 30,589,629NCBI
Celera1629,616,682 - 29,623,035 (-)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1628,238,944 - 28,245,297 (+)NCBIHuRef
CHM1_11631,992,976 - 31,999,329 (+)NCBICHM1_1
T2T-CHM13v2.01631,045,402 - 31,057,781 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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
Short stature  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7892239   PMID:8889549   PMID:9809749   PMID:10493891   PMID:11733950   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16344560   PMID:17083929   PMID:21873635   PMID:22325352  
PMID:23455922   PMID:24457600   PMID:24550385   PMID:24778252   PMID:24981860   PMID:24999758   PMID:25281560   PMID:25519132   PMID:25852190   PMID:26186194   PMID:26496610   PMID:26673895  
PMID:26972000   PMID:27173435   PMID:27705803   PMID:28514442   PMID:29180619   PMID:29395067   PMID:29509190   PMID:30415952   PMID:31182584   PMID:31753913   PMID:32239614   PMID:32344865  
PMID:32707033   PMID:33640491   PMID:33961781   PMID:34244565   PMID:34316702   PMID:34709266   PMID:35140242   PMID:35271311   PMID:35439318   PMID:35748872   PMID:36736316   PMID:37689310  
PMID:38297188   PMID:38360978  


Genomics

Comparative Map Data
FBRS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381630,658,431 - 30,670,810 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1630,658,431 - 30,670,810 (+)EnsemblGRCh38hg38GRCh38
GRCh371630,669,752 - 30,682,131 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361630,583,279 - 30,589,632 (+)NCBINCBI36Build 36hg18NCBI36
Build 341630,584,127 - 30,589,629NCBI
Celera1629,616,682 - 29,623,035 (-)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1628,238,944 - 28,245,297 (+)NCBIHuRef
CHM1_11631,992,976 - 31,999,329 (+)NCBICHM1_1
T2T-CHM13v2.01631,045,402 - 31,057,781 (+)NCBIT2T-CHM13v2.0
Fbrs
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397127,075,925 - 127,090,685 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7127,078,371 - 127,090,883 (+)EnsemblGRCm39 Ensembl
GRCm387127,478,415 - 127,491,513 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7127,479,199 - 127,491,711 (+)EnsemblGRCm38mm10GRCm38
MGSCv377134,628,735 - 134,635,027 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367127,268,941 - 127,282,853 (+)NCBIMGSCv36mm8
Celera7127,330,490 - 127,336,782 (+)NCBICelera
Cytogenetic Map7F3NCBI
cM Map769.55NCBI
Fbrs
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81191,520,148 - 191,534,510 (+)NCBIGRCr8
mRatBN7.21182,090,741 - 182,104,026 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1182,089,844 - 182,103,828 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01198,925,265 - 198,938,939 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1198,932,870 - 198,937,750 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01205,926,133 - 205,939,330 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41186,765,024 - 186,777,299 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1179,743,471 - 179,755,760 (+)NCBICelera
Cytogenetic Map1q37NCBI
Fbrs
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554937,520,982 - 7,530,862 (+)NCBIChiLan1.0ChiLan1.0
FBRS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21833,863,538 - 33,875,912 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11638,664,998 - 38,677,374 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01624,298,989 - 24,311,392 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11631,026,069 - 31,038,868 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1631,027,839 - 31,037,706 (+)Ensemblpanpan1.1panPan2
FBRS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1617,497,612 - 17,509,323 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl617,497,831 - 17,508,446 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha619,072,503 - 19,085,092 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0617,629,327 - 17,641,916 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl617,629,359 - 17,640,795 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1617,429,567 - 17,442,155 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0617,347,500 - 17,358,979 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0617,660,089 - 17,671,573 (-)NCBIUU_Cfam_GSD_1.0
Fbrs
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344124,955,246 - 124,967,892 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650113,054,196 - 13,066,115 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493650113,053,131 - 13,065,751 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FBRS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl317,731,764 - 17,742,921 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1317,731,276 - 17,743,811 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2318,187,493 - 18,200,064 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FBRS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1527,352,769 - 27,359,172 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660682,138,964 - 2,151,648 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fbrs
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478213,789,255 - 13,799,948 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FBRS
39 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3 copy number gain See cases [RCV000135339] Chr16:29909613..31438697 [GRCh38]
Chr16:29920934..31450018 [GRCh37]
Chr16:29828435..31357519 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30691912)x1 copy number loss See cases [RCV000135589] Chr16:29581462..30691912 [GRCh38]
Chr16:29592783..30703233 [GRCh37]
Chr16:29500284..30610734 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3 copy number gain See cases [RCV000140341] Chr16:27311746..31193406 [GRCh38]
Chr16:27323067..31204727 [GRCh37]
Chr16:27230568..31112228 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 copy number gain See cases [RCV000141141] Chr16:23752047..31943755 [GRCh38]
Chr16:23763368..31955076 [GRCh37]
Chr16:23670869..31862577 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:30391304-31122666)x3 copy number gain Breast ductal adenocarcinoma [RCV000207028] Chr16:30391304..31122666 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
Single allele deletion Branched-chain keto acid dehydrogenase kinase deficiency [RCV000735205] Chr16:30554158..31536880 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p11.2(chr16:30515442-30792856)x1 copy number loss See cases [RCV000445894] Chr16:30515442..30792856 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1 copy number loss See cases [RCV000448084] Chr16:28826162..29043901 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16p11.2(chr16:30607048-31117069)x1 copy number loss See cases [RCV000511454] Chr16:30607048..31117069 [GRCh37]
Chr16:16p11.2		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001105079.3(FBRS):c.2896C>G (p.Pro966Ala) single nucleotide variant Short stature [RCV000736121] Chr16:30669598 [GRCh38]
Chr16:30680919 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_001105079.3(FBRS):c.2594C>T (p.Pro865Leu) single nucleotide variant Short stature [RCV000736122] Chr16:30669296 [GRCh38]
Chr16:30680617 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001105079.3(FBRS):c.2137G>A (p.Gly713Ser) single nucleotide variant Short stature [RCV000736120] Chr16:30668622 [GRCh38]
Chr16:30679943 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001105079.3(FBRS):c.2810C>T (p.Ala937Val) single nucleotide variant Inborn genetic diseases [RCV003268312] Chr16:30669512 [GRCh38]
Chr16:30680833 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.2496C>A (p.Ala832=) single nucleotide variant not provided [RCV000954751] Chr16:30669198 [GRCh38]
Chr16:30680519 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3 copy number gain not provided [RCV001258619] Chr16:30350747..31905898 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.2290G>T (p.Ala764Ser) single nucleotide variant Inborn genetic diseases [RCV002748711] Chr16:30668903 [GRCh38]
Chr16:30680224 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3 copy number gain Chromosome 16p11.2 duplication syndrome [RCV001801218] Chr16:29808153..30750270 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_001105079.3(FBRS):c.2017C>A (p.Pro673Thr) single nucleotide variant Inborn genetic diseases [RCV003305159] Chr16:30667565 [GRCh38]
Chr16:30678886 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:30460206-30906733)x3 copy number gain not provided [RCV002475788] Chr16:30460206..30906733 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.2591C>T (p.Pro864Leu) single nucleotide variant Inborn genetic diseases [RCV002860850] Chr16:30669293 [GRCh38]
Chr16:30680614 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.2699C>T (p.Ala900Val) single nucleotide variant Inborn genetic diseases [RCV002989768] Chr16:30669401 [GRCh38]
Chr16:30680722 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.2423G>A (p.Arg808Gln) single nucleotide variant Inborn genetic diseases [RCV002688418] Chr16:30669125 [GRCh38]
Chr16:30680446 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.2461G>A (p.Val821Met) single nucleotide variant Inborn genetic diseases [RCV002729062] Chr16:30669163 [GRCh38]
Chr16:30680484 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.1661C>T (p.Pro554Leu) single nucleotide variant Inborn genetic diseases [RCV002659747] Chr16:30665358 [GRCh38]
Chr16:30676679 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.2044G>A (p.Gly682Arg) single nucleotide variant Inborn genetic diseases [RCV002845280] Chr16:30667592 [GRCh38]
Chr16:30678913 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.2728G>A (p.Val910Met) single nucleotide variant Inborn genetic diseases [RCV002661533] Chr16:30669430 [GRCh38]
Chr16:30680751 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.1988C>G (p.Ala663Gly) single nucleotide variant Inborn genetic diseases [RCV002868881] Chr16:30667432 [GRCh38]
Chr16:30678753 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.2005G>A (p.Ala669Thr) single nucleotide variant Inborn genetic diseases [RCV002888967] Chr16:30667553 [GRCh38]
Chr16:30678874 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.2329C>T (p.Arg777Trp) single nucleotide variant Inborn genetic diseases [RCV002827699] Chr16:30668942 [GRCh38]
Chr16:30680263 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.1630G>A (p.Ala544Thr) single nucleotide variant Inborn genetic diseases [RCV002767736] Chr16:30665327 [GRCh38]
Chr16:30676648 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.1730G>A (p.Arg577Gln) single nucleotide variant Inborn genetic diseases [RCV002665014] Chr16:30665663 [GRCh38]
Chr16:30676984 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.2837G>A (p.Ser946Asn) single nucleotide variant Inborn genetic diseases [RCV002983984] Chr16:30669539 [GRCh38]
Chr16:30680860 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.2644C>T (p.Pro882Ser) single nucleotide variant Inborn genetic diseases [RCV002699644] Chr16:30669346 [GRCh38]
Chr16:30680667 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.1715C>A (p.Pro572His) single nucleotide variant Inborn genetic diseases [RCV002673324] Chr16:30665648 [GRCh38]
Chr16:30676969 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.2524G>A (p.Ala842Thr) single nucleotide variant Inborn genetic diseases [RCV002960479] Chr16:30669226 [GRCh38]
Chr16:30680547 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.2881G>C (p.Val961Leu) single nucleotide variant Inborn genetic diseases [RCV002714064] Chr16:30669583 [GRCh38]
Chr16:30680904 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.2734G>A (p.Ala912Thr) single nucleotide variant Inborn genetic diseases [RCV002989126] Chr16:30669436 [GRCh38]
Chr16:30680757 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.2609C>G (p.Pro870Arg) single nucleotide variant Inborn genetic diseases [RCV002813046] Chr16:30669311 [GRCh38]
Chr16:30680632 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.1750G>A (p.Gly584Arg) single nucleotide variant Inborn genetic diseases [RCV002724537] Chr16:30665683 [GRCh38]
Chr16:30677004 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.2023A>G (p.Thr675Ala) single nucleotide variant Inborn genetic diseases [RCV002722733] Chr16:30667571 [GRCh38]
Chr16:30678892 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.2422C>T (p.Arg808Trp) single nucleotide variant Inborn genetic diseases [RCV003279341] Chr16:30669124 [GRCh38]
Chr16:30680445 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.2624G>A (p.Arg875His) single nucleotide variant Inborn genetic diseases [RCV003299494] Chr16:30669326 [GRCh38]
Chr16:30680647 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.2527G>A (p.Ala843Thr) single nucleotide variant Inborn genetic diseases [RCV003186109] Chr16:30669229 [GRCh38]
Chr16:30680550 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.2317C>T (p.Arg773Trp) single nucleotide variant Inborn genetic diseases [RCV003186143] Chr16:30668930 [GRCh38]
Chr16:30680251 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.2479C>T (p.Arg827Trp) single nucleotide variant Inborn genetic diseases [RCV003180860] Chr16:30669181 [GRCh38]
Chr16:30680502 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.2930G>A (p.Arg977Gln) single nucleotide variant Inborn genetic diseases [RCV003185385] Chr16:30669632 [GRCh38]
Chr16:30680953 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.1718A>G (p.Glu573Gly) single nucleotide variant Inborn genetic diseases [RCV003342401] Chr16:30665651 [GRCh38]
Chr16:30676972 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.2465G>C (p.Arg822Pro) single nucleotide variant Inborn genetic diseases [RCV003374677] Chr16:30669167 [GRCh38]
Chr16:30680488 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.2355G>T (p.Glu785Asp) single nucleotide variant Inborn genetic diseases [RCV003373258] Chr16:30668968 [GRCh38]
Chr16:30680289 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105079.3(FBRS):c.426C>T (p.Ala142=) single nucleotide variant not provided [RCV003411308] Chr16:30659944 [GRCh38]
Chr16:30671265 [GRCh37]
Chr16:16p11.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6332
Count of miRNA genes:1004
Interacting mature miRNAs:1304
Transcripts:ENST00000287468, ENST00000356166, ENST00000395073, ENST00000468966, ENST00000482749, ENST00000484152, ENST00000494101, ENST00000498588, ENST00000543786, ENST00000568722, ENST00000570170
Prediction methods:Microtar, 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
G24195  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,681,974 - 30,682,099UniSTSGRCh37
Build 361630,589,475 - 30,589,600RGDNCBI36
Celera1629,616,714 - 29,616,839RGD
Cytogenetic Map16p11.2UniSTS
HuRef1628,245,140 - 28,245,265UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2431 2789 1638 538 1905 380 4244 2029 3409 373 1443 1604 171 1204 2771 3
Low 3 197 88 85 44 85 112 166 309 46 12 7 4 1 17 2 1
Below cutoff 1 1 2 15 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001105079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA431800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ712524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW297859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF434121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG775600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ276414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA527487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB082271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB093195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC407419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC408959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR761499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000287468   ⟹   ENSP00000287468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,664,457 - 30,670,810 (+)Ensembl
RefSeq Acc Id: ENST00000356166   ⟹   ENSP00000348489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,658,431 - 30,670,810 (+)Ensembl
RefSeq Acc Id: ENST00000468966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,661,978 - 30,662,621 (+)Ensembl
RefSeq Acc Id: ENST00000482749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,661,322 - 30,664,516 (+)Ensembl
RefSeq Acc Id: ENST00000484152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,659,926 - 30,662,697 (+)Ensembl
RefSeq Acc Id: ENST00000494101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,667,939 - 30,670,809 (+)Ensembl
RefSeq Acc Id: ENST00000498588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,659,918 - 30,660,581 (+)Ensembl
RefSeq Acc Id: ENST00000543786   ⟹   ENSP00000456204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,659,922 - 30,670,809 (+)Ensembl
RefSeq Acc Id: ENST00000570170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,665,975 - 30,669,254 (+)Ensembl
RefSeq Acc Id: NM_001105079   ⟹   NP_001098549
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,658,431 - 30,670,810 (+)NCBI
GRCh371630,675,778 - 30,682,131 (+)RGD
Build 361630,583,279 - 30,589,632 (+)NCBI Archive
Celera1629,616,682 - 29,623,035 (-)RGD
HuRef1628,238,944 - 28,245,297 (+)RGD
CHM1_11631,988,038 - 31,999,329 (+)NCBI
T2T-CHM13v2.01631,045,402 - 31,057,781 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545916   ⟹   XP_011544218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,658,431 - 30,670,810 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545917   ⟹   XP_011544219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,658,431 - 30,670,810 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545919   ⟹   XP_011544221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,658,431 - 30,670,810 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434483   ⟹   XP_047290439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,658,431 - 30,670,810 (+)NCBI
RefSeq Acc Id: XM_054313672   ⟹   XP_054169647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,045,402 - 31,057,781 (+)NCBI
RefSeq Acc Id: XM_054313673   ⟹   XP_054169648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,045,402 - 31,057,781 (+)NCBI
RefSeq Acc Id: XM_054313674   ⟹   XP_054169649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,045,402 - 31,057,781 (+)NCBI
RefSeq Acc Id: XM_054313675   ⟹   XP_054169650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,045,402 - 31,057,781 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001098549   ⟸   NM_001105079
- UniProtKB: J3KNZ9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011544218   ⟸   XM_011545916
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011544219   ⟸   XM_011545917
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011544221   ⟸   XM_011545919
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000456204   ⟸   ENST00000543786
RefSeq Acc Id: ENSP00000287468   ⟸   ENST00000287468
RefSeq Acc Id: ENSP00000348489   ⟸   ENST00000356166
RefSeq Acc Id: XP_047290439   ⟸   XM_047434483
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054169648   ⟸   XM_054313673
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054169647   ⟸   XM_054313672
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054169649   ⟸   XM_054313674
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054169650   ⟸   XM_054313675
- Peptide Label: isoform X4

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9HAH7-F1-model_v2 AlphaFold Q9HAH7 1-460 view protein structure

Promoters
RGD ID:6793112
Promoter ID:HG_KWN:23555
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000356166,   OTTHUMT00000316526,   OTTHUMT00000316527,   UC002DZC.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361630,577,206 - 30,578,797 (+)MPROMDB
RGD ID:6793113
Promoter ID:HG_KWN:23556
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000316522
Position:
Human AssemblyChrPosition (strand)Source
Build 361630,579,359 - 30,579,859 (+)MPROMDB
RGD ID:6793116
Promoter ID:HG_KWN:23557
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000316525
Position:
Human AssemblyChrPosition (strand)Source
Build 361630,579,846 - 30,580,647 (+)MPROMDB
RGD ID:6793115
Promoter ID:HG_KWN:23558
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000395073,   NM_001105079
Position:
Human AssemblyChrPosition (strand)Source
Build 361630,582,546 - 30,583,046 (+)MPROMDB
RGD ID:6793118
Promoter ID:HG_KWN:23559
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000316524
Position:
Human AssemblyChrPosition (strand)Source
Build 361630,585,806 - 30,587,347 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20442 AgrOrtholog
COSMIC FBRS COSMIC
Ensembl Genes ENSG00000156860 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000287468.5 UniProtKB/Swiss-Prot
  ENST00000356166 ENTREZGENE
  ENST00000356166.11 UniProtKB/TrEMBL
  ENST00000543786.5 UniProtKB/TrEMBL
GTEx ENSG00000156860 GTEx
HGNC ID HGNC:20442 ENTREZGENE
Human Proteome Map FBRS Human Proteome Map
InterPro AUTS2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64319 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 64319 ENTREZGENE
OMIM 608601 OMIM
PANTHER FIBROSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR14429 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Auts2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162388128 PharmGKB
PRINTS FIBROSIN1LPF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KTZ7_HUMAN UniProtKB/TrEMBL
  FBRS_HUMAN UniProtKB/Swiss-Prot
  H3BRE6_HUMAN UniProtKB/TrEMBL
  J3KNZ9 ENTREZGENE, UniProtKB/TrEMBL
  Q9HAH7 ENTREZGENE
UniProt Secondary B4DP86 UniProtKB/Swiss-Prot
  Q96CI9 UniProtKB/Swiss-Prot
  Q9H9X4 UniProtKB/Swiss-Prot