FBL (fibrillarin) - Rat Genome Database

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Gene: FBL (fibrillarin) Homo sapiens
Analyze
Symbol: FBL
Name: fibrillarin
RGD ID: 1313628
HGNC Page HGNC:3599
Description: Enables ATPase binding activity; TFIID-class transcription factor complex binding activity; and histone H2AQ104 methyltransferase activity. Involved in rRNA methylation; ribosomal small subunit biogenesis; and snoRNA localization. Located in Cajal body and fibrillar center. Part of small-subunit processome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 34 kDa nucleolar scleroderma antigen; 34-kD nucleolar scleroderma antigen; FIB; FLRN; histone-glutamine methyltransferase; Nop1; RNA, U3 small nucleolar interacting protein 1; RNU3IP1; rRNA 2'-O-methyltransferase fibrillarin; U6 snRNA 2'-O-methyltransferase fibrillarin
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: FBLP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381939,834,458 - 39,846,379 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1939,834,458 - 39,846,379 (-)EnsemblGRCh38hg38GRCh38
GRCh371940,325,098 - 40,337,019 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361945,016,938 - 45,028,813 (-)NCBINCBI36Build 36hg18NCBI36
Build 341945,016,937 - 45,028,813NCBI
Celera1937,127,387 - 37,139,349 (-)NCBICelera
Cytogenetic Map19q13.2NCBI
HuRef1936,772,106 - 36,784,069 (-)NCBIHuRef
CHM1_11940,326,441 - 40,338,404 (-)NCBICHM1_1
T2T-CHM13v2.01942,639,380 - 42,651,301 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
(R,R,R)-alpha-tocopherol  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
actinomycin D  (EXP)
all-trans-retinoic acid  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
biochanin A  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP,ISO)
clobetasol  (ISO)
clofibrate  (ISO)
cycloheximide  (EXP)
cyclosporin A  (EXP)
decabromodiphenyl ether  (EXP)
dibutyl phthalate  (ISO)
Didecyldimethylammonium  (EXP)
disodium selenite  (EXP)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
etoposide  (EXP)
fenpyroximate  (EXP)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
FR900359  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
ivermectin  (EXP)
ketamine  (ISO)
lead diacetate  (EXP)
mercury dichloride  (EXP,ISO)
methimazole  (ISO)
methylisothiazolinone  (EXP)
miconazole  (ISO)
mitomycin C  (EXP)
Monobutylphthalate  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
picoxystrobin  (EXP)
pyrimidifen  (EXP)
rotenone  (EXP,ISO)
SB 431542  (EXP)
silver(1+) nitrate  (ISO)
sodium aurothiomalate  (EXP,ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
Soman  (ISO)
sulfadimethoxine  (ISO)
tebufenpyrad  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
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. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. The box C/D and H/ACA snoRNPs: key players in the modification, processing and the dynamic folding of ribosomal RNA. Watkins NJ and Bohnsack MT, Wiley Interdiscip Rev RNA. 2012 May-Jun;3(3):397-414. doi: 10.1002/wrna.117. Epub 2011 Nov 7.
Additional References at PubMed
PMID:1714385   PMID:1731817   PMID:1846968   PMID:2026646   PMID:2414294   PMID:7626687   PMID:8670859   PMID:9548374   PMID:9654073   PMID:10518318   PMID:10648622   PMID:10837141  
PMID:11509230   PMID:11739535   PMID:11790298   PMID:11835310   PMID:11960984   PMID:12244096   PMID:12373336   PMID:12388758   PMID:12477932   PMID:12490167   PMID:14583623   PMID:14743216  
PMID:15009096   PMID:15057824   PMID:15489334   PMID:15494374   PMID:15574333   PMID:15635413   PMID:15848144   PMID:16157300   PMID:16169070   PMID:16196087   PMID:16210410   PMID:16226712  
PMID:16687569   PMID:17158916   PMID:17314511   PMID:17353931   PMID:17403666   PMID:17461797   PMID:17498821   PMID:17603021   PMID:17620599   PMID:17636026   PMID:17643375   PMID:17925405  
PMID:17932509   PMID:18292223   PMID:18781797   PMID:19056867   PMID:19095616   PMID:19208757   PMID:19331828   PMID:19454010   PMID:19490893   PMID:19679658   PMID:19738201   PMID:19913121  
PMID:19928837   PMID:20020773   PMID:20360068   PMID:20628086   PMID:20926688   PMID:21139048   PMID:21145461   PMID:21282530   PMID:21522132   PMID:21536856   PMID:21873635   PMID:21890473  
PMID:21906983   PMID:21907836   PMID:21963094   PMID:22178446   PMID:22199357   PMID:22354994   PMID:22505724   PMID:22586326   PMID:22623428   PMID:22658674   PMID:22681889   PMID:22720776  
PMID:22909121   PMID:22916032   PMID:22939629   PMID:23000965   PMID:23084401   PMID:23203802   PMID:23398456   PMID:23443559   PMID:24029231   PMID:24332808   PMID:24352239   PMID:24457600  
PMID:24591637   PMID:24625528   PMID:24711643   PMID:24740910   PMID:24778252   PMID:24797263   PMID:24816145   PMID:25147182   PMID:25315684   PMID:25437307   PMID:25544563   PMID:25659154  
PMID:25665578   PMID:25852190   PMID:25921289   PMID:25948554   PMID:25963833   PMID:26170170   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26641092   PMID:26673895   PMID:26777405  
PMID:26831064   PMID:26885983   PMID:27129302   PMID:27248496   PMID:27503909   PMID:27682166   PMID:27684187   PMID:27705803   PMID:27976729   PMID:28027390   PMID:28186131   PMID:28225217  
PMID:28302793   PMID:28416769   PMID:28514442   PMID:28515276   PMID:28712289   PMID:28977470   PMID:28977666   PMID:29128334   PMID:29180619   PMID:29229926   PMID:29298432   PMID:29331416  
PMID:29467282   PMID:29490077   PMID:29499938   PMID:29511296   PMID:29568061   PMID:29635000   PMID:29773831   PMID:29777862   PMID:29802200   PMID:29844126   PMID:29845934   PMID:30021884  
PMID:30190478   PMID:30209976   PMID:30283081   PMID:30349055   PMID:30459231   PMID:30463901   PMID:30540930   PMID:30554943   PMID:30804502   PMID:30948266   PMID:31048545   PMID:31091453  
PMID:31180492   PMID:31239290   PMID:31298480   PMID:31353912   PMID:31363146   PMID:31470122   PMID:31586073   PMID:31685992   PMID:31753913   PMID:31796584   PMID:31871319   PMID:31980649  
PMID:31995728   PMID:32011831   PMID:32068487   PMID:32176739   PMID:32296183   PMID:32384686   PMID:32521226   PMID:32529326   PMID:32552912   PMID:32640226   PMID:32687490   PMID:32711345  
PMID:32744500   PMID:32780723   PMID:32807901   PMID:32877691   PMID:32929329   PMID:33022573   PMID:33194618   PMID:33226137   PMID:33239621   PMID:33306668   PMID:33522570   PMID:33567341  
PMID:33644029   PMID:33658012   PMID:33729478   PMID:33766124   PMID:33795875   PMID:33852194   PMID:33961781   PMID:34029587   PMID:34079125   PMID:34244565   PMID:34316702   PMID:34373451  
PMID:34516797   PMID:34537242   PMID:34551306   PMID:34578187   PMID:34650049   PMID:34709727   PMID:34732716   PMID:34901782   PMID:35013218   PMID:35256949   PMID:35271311   PMID:35439318  
PMID:35545034   PMID:35563538   PMID:35583604   PMID:35654790   PMID:35681168   PMID:35819319   PMID:35831895   PMID:35850772   PMID:35864588   PMID:35906200   PMID:35941108   PMID:35944360  
PMID:36057605   PMID:36114006   PMID:36180527   PMID:36199071   PMID:36215168   PMID:36244648   PMID:36273042   PMID:36282215   PMID:36339263   PMID:36424410   PMID:36517590   PMID:36526897  
PMID:36574265   PMID:36597993   PMID:36604567   PMID:36724073   PMID:36779763   PMID:36912080   PMID:36928641   PMID:37489617   PMID:37616343   PMID:37689310   PMID:37827155   PMID:38113892  
PMID:38172120   PMID:38280479  


Genomics

Comparative Map Data
FBL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381939,834,458 - 39,846,379 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1939,834,458 - 39,846,379 (-)EnsemblGRCh38hg38GRCh38
GRCh371940,325,098 - 40,337,019 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361945,016,938 - 45,028,813 (-)NCBINCBI36Build 36hg18NCBI36
Build 341945,016,937 - 45,028,813NCBI
Celera1937,127,387 - 37,139,349 (-)NCBICelera
Cytogenetic Map19q13.2NCBI
HuRef1936,772,106 - 36,784,069 (-)NCBIHuRef
CHM1_11940,326,441 - 40,338,404 (-)NCBICHM1_1
T2T-CHM13v2.01942,639,380 - 42,651,301 (-)NCBIT2T-CHM13v2.0
Fbl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39727,868,293 - 27,878,701 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl727,869,135 - 27,878,694 (+)EnsemblGRCm39 Ensembl
GRCm38728,168,893 - 28,179,269 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl728,169,710 - 28,179,269 (+)EnsemblGRCm38mm10GRCm38
MGSCv37728,954,767 - 28,964,288 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36727,878,508 - 27,888,029 (+)NCBIMGSCv36mm8
Celera722,730,966 - 22,740,488 (+)NCBICelera
Cytogenetic Map7A3NCBI
cM Map716.67NCBI
Fbl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8192,597,407 - 92,606,507 (+)NCBIGRCr8
mRatBN7.2183,469,832 - 83,478,932 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl183,469,832 - 83,478,932 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx188,880,071 - 88,889,164 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0197,338,304 - 97,347,397 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0190,635,930 - 90,645,023 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0185,103,519 - 85,112,619 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl185,103,519 - 85,112,619 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0186,319,815 - 86,328,915 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4183,271,967 - 83,281,069 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1183,350,077 - 83,359,180 (+)NCBI
Celera177,869,745 - 77,878,845 (+)NCBICelera
Cytogenetic Map1q21NCBI
Fbl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555781,176,713 - 1,186,873 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555781,176,713 - 1,186,873 (+)NCBIChiLan1.0ChiLan1.0
FBL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22046,063,417 - 46,075,395 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11947,934,073 - 47,946,047 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01936,866,329 - 36,878,293 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11945,413,978 - 45,425,930 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1945,413,978 - 45,425,930 (-)Ensemblpanpan1.1panPan2
FBL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11113,632,899 - 113,643,805 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1113,632,929 - 113,643,748 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1113,036,931 - 113,047,842 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01114,233,485 - 114,244,396 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1114,233,538 - 114,244,391 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11113,791,323 - 113,802,229 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01113,424,985 - 113,435,889 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01114,419,243 - 114,430,150 (+)NCBIUU_Cfam_GSD_1.0
Fbl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934914,016,916 - 14,027,394 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366612,444,866 - 2,455,528 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366612,444,985 - 2,455,423 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FBL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl648,314,783 - 48,326,436 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1648,314,782 - 48,326,433 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2644,160,315 - 44,171,969 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FBL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1634,370,558 - 34,382,909 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl634,370,558 - 34,376,836 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607312,444,667 - 12,457,740 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fbl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462492556,421 - 67,082 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462492556,421 - 67,102 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FBL
10 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3 copy number gain See cases [RCV000050636] Chr19:37319377..42738688 [GRCh38]
Chr19:37810279..43242840 [GRCh37]
Chr19:42502119..47934680 [NCBI36]
Chr19:19q13.12-13.2		 pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3 copy number gain See cases [RCV000239839] Chr19:37582250..41630908 [GRCh37]
Chr19:19q13.12-13.2		 pathogenic
NM_001436.4(FBL):c.548C>T (p.Pro183Leu) single nucleotide variant Inborn genetic diseases [RCV003244234] Chr19:39839036 [GRCh38]
Chr19:40329676 [GRCh37]
Chr19:19q13.2		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_001436.4(FBL):c.61C>T (p.Arg21Cys) single nucleotide variant Inborn genetic diseases [RCV003246247] Chr19:39840737 [GRCh38]
Chr19:40331377 [GRCh37]
Chr19:19q13.2		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_001436.4(FBL):c.39C>T (p.Gly13=) single nucleotide variant not provided [RCV000884022] Chr19:39840759 [GRCh38]
Chr19:40331399 [GRCh37]
Chr19:19q13.2		 benign
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
NC_000019.9:g.(?_39904727)_(42931301_?)dup duplication Diamond-Blackfan anemia [RCV003122291]|MEGF8-related Carpenter syndrome [RCV003105286]|Maple syrup urine disease [RCV003105287]|TWIST1-related craniosynostosis [RCV003105285] Chr19:39904727..42931301 [GRCh37]
Chr19:19q13.2		 uncertain significance
NC_000019.9:g.(?_39205089)_(40913839_?)dup duplication Type 2 diabetes mellitus [RCV003107444]|not provided [RCV003122562] Chr19:39205089..40913839 [GRCh37]
Chr19:19q13.2		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 copy number gain Specific learning disability [RCV001801194] Chr19:19546923..41313229 [GRCh37]
Chr19:19p13.11-q13.2		 pathogenic
NM_001436.4(FBL):c.25G>A (p.Gly9Arg) single nucleotide variant Inborn genetic diseases [RCV003279741] Chr19:39840773 [GRCh38]
Chr19:40331413 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_001436.4(FBL):c.481G>A (p.Ala161Thr) single nucleotide variant Inborn genetic diseases [RCV002844072] Chr19:39839103 [GRCh38]
Chr19:40329743 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_001436.4(FBL):c.755C>T (p.Thr252Ile) single nucleotide variant Inborn genetic diseases [RCV002897295] Chr19:39836596 [GRCh38]
Chr19:40327236 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_001436.4(FBL):c.593G>A (p.Arg198His) single nucleotide variant Inborn genetic diseases [RCV003220754] Chr19:39837800 [GRCh38]
Chr19:40328440 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_001436.4(FBL):c.671G>A (p.Arg224His) single nucleotide variant Inborn genetic diseases [RCV003265466] Chr19:39837722 [GRCh38]
Chr19:40328362 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_001436.4(FBL):c.160G>A (p.Gly54Ser) single nucleotide variant Inborn genetic diseases [RCV003309654] Chr19:39840638 [GRCh38]
Chr19:40331278 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_001436.4(FBL):c.76G>C (p.Gly26Arg) single nucleotide variant Inborn genetic diseases [RCV003356714] Chr19:39840722 [GRCh38]
Chr19:40331362 [GRCh37]
Chr19:19q13.2		 uncertain significance
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 copy number gain not specified [RCV003986115] Chr19:28271146..41508851 [GRCh37]
Chr19:19q11-13.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2426
Count of miRNA genes:872
Interacting mature miRNAs:1047
Transcripts:ENST00000221801, ENST00000593503, ENST00000594309, ENST00000594443, ENST00000595545, ENST00000597224, ENST00000597634, ENST00000598417, ENST00000599134, ENST00000599159, ENST00000601274
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
D8S2282  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4p16.3UniSTS
RH66838  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.1UniSTS
GeneMap99-GB4 RH Map19235.07UniSTS
NCBI RH Map19420.3UniSTS
MARC_26184-26185:1030717529:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371940,327,220 - 40,328,445UniSTSGRCh37
Celera1937,129,514 - 37,130,739UniSTS
HuRef1936,774,233 - 36,775,458UniSTS


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 1 2 1 1 1 39 5
Medium 2438 2953 1725 623 1942 464 4356 2163 3729 418 1421 1608 175 1 1204 2788 6 2
Low 38 1 1 7 1 34 4
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005258651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB451384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC244229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI085380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG831506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT020144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M59849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X56597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000221801   ⟹   ENSP00000221801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,834,458 - 39,846,379 (-)Ensembl
RefSeq Acc Id: ENST00000593503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,834,460 - 39,838,091 (-)Ensembl
RefSeq Acc Id: ENST00000594309   ⟹   ENSP00000472433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,839,035 - 39,846,357 (-)Ensembl
RefSeq Acc Id: ENST00000594443   ⟹   ENSP00000469072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,834,503 - 39,846,370 (-)Ensembl
RefSeq Acc Id: ENST00000595545   ⟹   ENSP00000472419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,834,458 - 39,840,441 (-)Ensembl
RefSeq Acc Id: ENST00000597224   ⟹   ENSP00000469249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,834,691 - 39,840,722 (-)Ensembl
RefSeq Acc Id: ENST00000597634   ⟹   ENSP00000471350
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,836,556 - 39,846,342 (-)Ensembl
RefSeq Acc Id: ENST00000598417   ⟹   ENSP00000471867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,837,820 - 39,846,347 (-)Ensembl
RefSeq Acc Id: ENST00000599134   ⟹   ENSP00000472805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,839,074 - 39,846,329 (-)Ensembl
RefSeq Acc Id: ENST00000599159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,838,260 - 39,846,376 (-)Ensembl
RefSeq Acc Id: ENST00000601274   ⟹   ENSP00000472726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1939,834,717 - 39,846,357 (-)Ensembl
RefSeq Acc Id: NM_001436   ⟹   NP_001427
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,834,458 - 39,846,379 (-)NCBI
GRCh371940,325,093 - 40,337,054 (-)ENTREZGENE
GRCh371940,325,093 - 40,337,054 (-)NCBI
Build 361945,016,938 - 45,028,813 (-)NCBI Archive
HuRef1936,772,106 - 36,784,069 (-)ENTREZGENE
CHM1_11940,326,441 - 40,338,404 (-)NCBI
T2T-CHM13v2.01942,639,380 - 42,651,301 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005258651   ⟹   XP_005258708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,834,458 - 39,846,379 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011526623   ⟹   XP_011524925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381939,834,458 - 39,846,379 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054320187   ⟹   XP_054176162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01942,639,380 - 42,651,301 (-)NCBI
RefSeq Acc Id: XM_054320188   ⟹   XP_054176163
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01942,639,380 - 42,651,301 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001427 (Get FASTA)   NCBI Sequence Viewer  
  XP_005258708 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524925 (Get FASTA)   NCBI Sequence Viewer  
  XP_054176162 (Get FASTA)   NCBI Sequence Viewer  
  XP_054176163 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187609 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187610 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52453 (Get FASTA)   NCBI Sequence Viewer  
  AAC28913 (Get FASTA)   NCBI Sequence Viewer  
  AAD15623 (Get FASTA)   NCBI Sequence Viewer  
  AAH15218 (Get FASTA)   NCBI Sequence Viewer  
  AAH19260 (Get FASTA)   NCBI Sequence Viewer  
  AAH19609 (Get FASTA)   NCBI Sequence Viewer  
  AAP35476 (Get FASTA)   NCBI Sequence Viewer  
  AAV38946 (Get FASTA)   NCBI Sequence Viewer  
  BAG59496 (Get FASTA)   NCBI Sequence Viewer  
  BAG70198 (Get FASTA)   NCBI Sequence Viewer  
  CAA39935 (Get FASTA)   NCBI Sequence Viewer  
  CAG33350 (Get FASTA)   NCBI Sequence Viewer  
  EAW56925 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000221801
  ENSP00000221801.2
  ENSP00000469072.1
  ENSP00000469249.1
  ENSP00000471350.1
  ENSP00000471867.1
  ENSP00000472419
  ENSP00000472419.1
  ENSP00000472433.1
  ENSP00000472726
  ENSP00000472726.1
  ENSP00000472805.1
  ENSP00000485785
  ENSP00000485834
  ENSP00000485963
  ENSP00000486271
  ENSP00000486882
  ENSP00000487026
  ENSP00000487091
  ENSP00000487170
  ENSP00000487390.1
GenBank Protein P22087 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001427   ⟸   NM_001436
- UniProtKB: Q6IAT5 (UniProtKB/Swiss-Prot),   O75259 (UniProtKB/Swiss-Prot),   B5BUE8 (UniProtKB/Swiss-Prot),   Q9UPI6 (UniProtKB/Swiss-Prot),   P22087 (UniProtKB/Swiss-Prot),   B4DLD4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005258708   ⟸   XM_005258651
- Peptide Label: isoform X1
- UniProtKB: B4DLD4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011524925   ⟸   XM_011526623
- Peptide Label: isoform X2
- UniProtKB: Q8WUT5 (UniProtKB/TrEMBL),   Q96BS4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000469072   ⟸   ENST00000594443
RefSeq Acc Id: ENSP00000472419   ⟸   ENST00000595545
RefSeq Acc Id: ENSP00000471350   ⟸   ENST00000597634
RefSeq Acc Id: ENSP00000469249   ⟸   ENST00000597224
RefSeq Acc Id: ENSP00000471867   ⟸   ENST00000598417
RefSeq Acc Id: ENSP00000472805   ⟸   ENST00000599134
RefSeq Acc Id: ENSP00000472726   ⟸   ENST00000601274
RefSeq Acc Id: ENSP00000221801   ⟸   ENST00000221801
RefSeq Acc Id: ENSP00000472433   ⟸   ENST00000594309
RefSeq Acc Id: XP_054176163   ⟸   XM_054320188
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054176162   ⟸   XM_054320187
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P22087-F1-model_v2 AlphaFold P22087 1-321 view protein structure

Promoters
RGD ID:7239937
Promoter ID:EPDNEW_H25713
Type:initiation region
Name:FBL_1
Description:fibrillarin
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
GRCh381939,846,379 - 39,846,439EPDNEW
RGD ID:6795547
Promoter ID:HG_KWN:29923
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:NM_001436,   UC002OMO.1,   UC010EGR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361945,028,601 - 45,029,101 (-)MPROMDB
RGD ID:6850756
Promoter ID:EP73172
Type:initiation region
Name:HS_FBL
Description:Fibrillarin.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361945,028,861 - 45,028,921EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3599 AgrOrtholog
COSMIC FBL COSMIC
Ensembl Genes ENSG00000105202 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000280548 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000221801 ENTREZGENE
  ENST00000221801.8 UniProtKB/Swiss-Prot
  ENST00000594309.5 UniProtKB/TrEMBL
  ENST00000594443.5 UniProtKB/TrEMBL
  ENST00000595545 ENTREZGENE
  ENST00000595545.5 UniProtKB/TrEMBL
  ENST00000597224.5 UniProtKB/TrEMBL
  ENST00000597634.5 UniProtKB/TrEMBL
  ENST00000598417.5 UniProtKB/TrEMBL
  ENST00000599134.1 UniProtKB/TrEMBL
  ENST00000601274 ENTREZGENE
  ENST00000601274.5 UniProtKB/TrEMBL
  ENST00000625241.3 UniProtKB/Swiss-Prot
  ENST00000625673 UniProtKB/TrEMBL
  ENST00000627797 UniProtKB/TrEMBL
  ENST00000628079 UniProtKB/TrEMBL
  ENST00000629606 UniProtKB/TrEMBL
  ENST00000629964 UniProtKB/TrEMBL
  ENST00000629982 UniProtKB/TrEMBL
  ENST00000630592 UniProtKB/TrEMBL
  ENST00000630954 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000105202 GTEx
  ENSG00000280548 GTEx
HGNC ID HGNC:3599 ENTREZGENE
Human Proteome Map FBL Human Proteome Map
InterPro Fibrillarin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibrillarin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM-dependent_MTases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2091 UniProtKB/Swiss-Prot
NCBI Gene 2091 ENTREZGENE
OMIM 134795 OMIM
PANTHER RRNA 2'-O-METHYLTRANSFERASE FIBRILLARIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRNA 2-O-METHYLTRANSFERASE FIBRILLARIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Fibrillarin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28012 PharmGKB
PIRSF Nop17p UniProtKB/TrEMBL
PRINTS FIBRILLARIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FIBRILLARIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Fibrillarin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53335 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DLD4 ENTREZGENE, UniProtKB/TrEMBL
  B5BUE8 ENTREZGENE
  FBRL_HUMAN UniProtKB/Swiss-Prot
  M0QXC9_HUMAN UniProtKB/TrEMBL
  M0QXL5_HUMAN UniProtKB/TrEMBL
  M0R0P1_HUMAN UniProtKB/TrEMBL
  M0R1H0_HUMAN UniProtKB/TrEMBL
  M0R299_HUMAN UniProtKB/TrEMBL
  M0R2B0_HUMAN UniProtKB/TrEMBL
  M0R2Q4_HUMAN UniProtKB/TrEMBL
  M0R2U2_HUMAN UniProtKB/TrEMBL
  O75259 ENTREZGENE
  P22087 ENTREZGENE
  Q6IAT5 ENTREZGENE
  Q8WUT5 ENTREZGENE
  Q96BS4 ENTREZGENE, UniProtKB/TrEMBL
  Q9UPI6 ENTREZGENE
UniProt Secondary B5BUE8 UniProtKB/Swiss-Prot
  O75259 UniProtKB/Swiss-Prot
  Q6IAT5 UniProtKB/Swiss-Prot
  Q8WUT5 UniProtKB/TrEMBL
  Q9UPI6 UniProtKB/Swiss-Prot