NFIB (nuclear factor I B) - Rat Genome Database

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Gene: NFIB (nuclear factor I B) Homo sapiens
Analyze
Symbol: NFIB
Name: nuclear factor I B
RGD ID: 733820
HGNC Page HGNC
Description: Exhibits DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and transcription regulator inhibitor activity. Involved in brain development; negative regulation of DNA binding activity; and regulation of transcription by RNA polymerase II. Localizes to fibrillar center and nucleoplasm; PARTICIPATES IN forkhead class A signaling pathway; INTERACTS WITH 17beta-estradiol; 17beta-hydroxy-5alpha-androstan-3-one; 2-hydroxypropanoic acid.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: CCAAT-box-binding transcription factor; CTF; HMGIC/NFIB; MACID; NF-I/B; NF1-B; NFI-B; NFI-RED; NFIB2; NFIB3; nuclear factor 1 B-type; nuclear factor 1/B; nuclear factor I/B; TGGCA-binding 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
GRCh38.p13 Ensembl914,081,843 - 14,398,983 (-)EnsemblGRCh38hg38GRCh38
GRCh38914,081,843 - 14,532,077 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37914,081,842 - 14,532,075 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36914,071,847 - 14,303,945 (-)NCBINCBI36hg18NCBI36
Build 34914,077,372 - 14,303,719NCBI
Celera914,015,384 - 14,332,471 (-)NCBI
Cytogenetic Map9p23-p22.3NCBI
HuRef914,045,221 - 14,362,372 (-)NCBIHuRef
CHM1_1914,081,962 - 14,399,030 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
acetamide  (ISO)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
Benzo[ghi]perylene  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
Brodifacoum  (ISO)
butanal  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
chlorpyrifos  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP,ISO)
cyproconazole  (ISO)
cytarabine  (EXP)
dibenzo[a,l]pyrene  (EXP)
dichloromethane  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
ethylbenzene  (EXP)
flutamide  (ISO)
formaldehyde  (EXP)
gamma-hexachlorocyclohexane  (ISO)
genistein  (ISO)
glafenine  (ISO)
L-ascorbic acid  (ISO)
leflunomide  (EXP)
maneb  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
mercury dibromide  (EXP)
methapyrilene  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
nimesulide  (ISO)
o-xylene  (EXP)
oxaliplatin  (EXP,ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phenol red  (EXP)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
progesterone  (EXP)
propiconazole  (ISO)
Ptaquiloside  (ISO)
pyridaben  (ISO)
rac-lactic acid  (EXP)
SB 431542  (EXP)
sodium arsenate  (ISO)
sulindac  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
toluene  (EXP)
topotecan  (ISO)
trichloroethene  (EXP,ISO)
trimellitic anhydride  (ISO)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:7590749   PMID:9099724   PMID:9484777   PMID:12477932   PMID:12624117   PMID:12639247   PMID:14702039   PMID:15342556   PMID:15489334   PMID:16344560   PMID:17511965   PMID:18029348  
PMID:18384814   PMID:18663748   PMID:18809517   PMID:19274049   PMID:19322201   PMID:19540848   PMID:19837271   PMID:19841262   PMID:19913121   PMID:20628086   PMID:20702610   PMID:21087353  
PMID:21532573   PMID:21608007   PMID:21618541   PMID:21764851   PMID:21873635   PMID:21901247   PMID:21925980   PMID:21976542   PMID:22180456   PMID:22505352   PMID:22952844   PMID:23161775  
PMID:23419831   PMID:24457600   PMID:24949940   PMID:25220407   PMID:25664610   PMID:25737280   PMID:25764026   PMID:26084801   PMID:26496610   PMID:26631609   PMID:26677878   PMID:26871637  
PMID:27083054   PMID:27213588   PMID:27357447   PMID:27373156   PMID:27566443   PMID:27662035   PMID:28076901   PMID:28119061   PMID:28210977   PMID:28473536   PMID:28514442   PMID:28596133  
PMID:28611215   PMID:28794006   PMID:28861760   PMID:29149504   PMID:29243184   PMID:29395067   PMID:29507755   PMID:29509190   PMID:29577671   PMID:29844126   PMID:30002070   PMID:30015981  
PMID:30320939   PMID:30350349   PMID:30388402   PMID:30804502   PMID:31189999   PMID:31262726   PMID:31522615   PMID:31527615   PMID:31586073   PMID:31760595   PMID:32051553   PMID:32064882  
PMID:32416067   PMID:32659236  


Genomics

Comparative Map Data
NFIB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl914,081,843 - 14,398,983 (-)EnsemblGRCh38hg38GRCh38
GRCh38914,081,843 - 14,532,077 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37914,081,842 - 14,532,075 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36914,071,847 - 14,303,945 (-)NCBINCBI36hg18NCBI36
Build 34914,077,372 - 14,303,719NCBI
Celera914,015,384 - 14,332,471 (-)NCBI
Cytogenetic Map9p23-p22.3NCBI
HuRef914,045,221 - 14,362,372 (-)NCBIHuRef
CHM1_1914,081,962 - 14,399,030 (-)NCBICHM1_1
Nfib
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39482,208,410 - 82,424,988 (-)NCBIGRCm39mm39
GRCm39 Ensembl482,208,410 - 82,623,987 (-)Ensembl
GRCm38482,290,173 - 82,506,751 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl482,290,173 - 82,705,750 (-)EnsemblGRCm38mm10GRCm38
MGSCv37481,936,077 - 82,151,212 (-)NCBIGRCm37mm9NCBIm37
MGSCv36481,766,962 - 81,976,354 (-)NCBImm8
Celera480,824,138 - 81,039,259 (-)NCBICelera
Cytogenetic Map4C3NCBI
cM Map438.4NCBI
Nfib
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2596,759,208 - 96,973,092 (-)NCBI
Rnor_6.0 Ensembl5100,439,082 - 100,647,727 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.05100,436,343 - 100,647,962 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.05104,464,121 - 104,676,709 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45101,184,253 - 101,409,907 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15101,189,483 - 101,283,030 (-)NCBI
Celera595,320,913 - 95,528,007 (-)NCBICelera
Cytogenetic Map5q31NCBI
Nfib
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543417,198,571 - 17,415,084 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543417,192,188 - 17,603,503 (-)NCBIChiLan1.0ChiLan1.0
NFIB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1914,432,239 - 14,664,424 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0913,923,516 - 14,376,264 (-)NCBIMhudiblu_PPA_v0panPan3
NFIB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11134,573,136 - 35,010,319 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1134,579,431 - 34,901,322 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1133,281,491 - 33,523,124 (-)NCBI
ROS_Cfam_1.01135,477,680 - 35,719,587 (-)NCBI
UMICH_Zoey_3.11134,182,236 - 34,423,934 (-)NCBI
UNSW_CanFamBas_1.01133,974,417 - 34,216,067 (-)NCBI
UU_Cfam_GSD_1.01134,631,192 - 34,872,773 (-)NCBI
Nfib
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947149,310,349 - 149,730,717 (-)NCBI
SpeTri2.0NW_0049365397,763,036 - 8,185,001 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NFIB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1208,175,194 - 208,421,643 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11208,182,397 - 208,427,504 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21231,957,992 - 232,197,794 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103219433
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11265,043,819 - 65,487,832 (+)NCBI
ChlSab1.1 Ensembl1265,256,407 - 65,481,485 (+)Ensembl
Vero_WHO_p1.0NW_02366603853,635,229 - 53,707,627 (+)NCBI
Nfib
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473618,372,418 - 18,586,390 (-)NCBI

Position Markers
D9S274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,354,715 - 14,354,855UniSTSGRCh37
GRCh37914,354,687 - 14,354,849UniSTSGRCh37
Build 36914,344,687 - 14,344,849RGDNCBI36
Celera914,288,236 - 14,288,392RGD
Celera914,288,264 - 14,288,398UniSTS
Cytogenetic Map9p24.1UniSTS
HuRef914,318,155 - 14,318,289UniSTS
HuRef914,318,127 - 14,318,283UniSTS
Marshfield Genetic Map928.42RGD
Marshfield Genetic Map928.42UniSTS
Genethon Genetic Map927.8UniSTS
TNG Radiation Hybrid Map97000.0UniSTS
deCODE Assembly Map930.24UniSTS
GeneMap99-GB4 RH Map955.57UniSTS
Whitehead-RH Map957.2UniSTS
Whitehead-YAC Contig Map9 UniSTS
NCBI RH Map9211.1UniSTS
D9S1869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,274,057 - 14,274,327UniSTSGRCh37
Build 36914,264,057 - 14,264,327RGDNCBI36
Celera914,207,591 - 14,207,866RGD
Cytogenetic Map9p24.1UniSTS
HuRef914,237,861 - 14,238,137UniSTS
Marshfield Genetic Map927.32RGD
Marshfield Genetic Map927.32UniSTS
Genethon Genetic Map926.5UniSTS
deCODE Assembly Map928.53UniSTS
Whitehead-YAC Contig Map9 UniSTS
WI-14235  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,082,678 - 14,082,804UniSTSGRCh37
Build 36914,072,678 - 14,072,804RGDNCBI36
Celera914,016,221 - 14,016,347RGD
Cytogenetic Map9p24.1UniSTS
HuRef914,046,058 - 14,046,184UniSTS
GeneMap99-GB4 RH Map953.55UniSTS
Whitehead-RH Map955.6UniSTS
D9S2012  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,081,863 - 14,081,988UniSTSGRCh37
Build 36914,071,863 - 14,071,988RGDNCBI36
Celera914,015,405 - 14,015,530RGD
Cytogenetic Map9p24.1UniSTS
HuRef914,045,242 - 14,045,367UniSTS
Whitehead-YAC Contig Map9 UniSTS
A004O32  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,084,517 - 14,084,774UniSTSGRCh37
Build 36914,074,517 - 14,074,774RGDNCBI36
Celera914,018,060 - 14,018,317RGD
Cytogenetic Map9p24.1UniSTS
HuRef914,047,898 - 14,048,155UniSTS
GeneMap99-GB4 RH Map953.35UniSTS
NCBI RH Map9185.9UniSTS
RH80854  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,088,085 - 14,088,313UniSTSGRCh37
Build 36914,078,085 - 14,078,313RGDNCBI36
Celera914,021,628 - 14,021,856RGD
Cytogenetic Map9p24.1UniSTS
HuRef914,051,466 - 14,051,694UniSTS
GeneMap99-GB4 RH Map953.75UniSTS
RH104353  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,097,919 - 14,098,064UniSTSGRCh37
Build 36914,087,919 - 14,088,064RGDNCBI36
Celera914,031,469 - 14,031,614RGD
Cytogenetic Map9p24.1UniSTS
HuRef914,061,307 - 14,061,452UniSTS
GeneMap99-GB4 RH Map953.55UniSTS
SHGC-82205  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,168,318 - 14,168,604UniSTSGRCh37
Build 36914,158,318 - 14,158,604RGDNCBI36
Celera914,101,869 - 14,102,155RGD
Cytogenetic Map9p24.1UniSTS
HuRef914,131,719 - 14,132,005UniSTS
TNG Radiation Hybrid Map96600.0UniSTS
SHGC-86156  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,276,891 - 14,277,199UniSTSGRCh37
Build 36914,266,891 - 14,267,199RGDNCBI36
Celera914,210,430 - 14,210,738RGD
Cytogenetic Map9p24.1UniSTS
HuRef914,240,701 - 14,241,009UniSTS
TNG Radiation Hybrid Map97039.0UniSTS
RH120407  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,116,121 - 14,116,404UniSTSGRCh37
Build 36914,106,121 - 14,106,404RGDNCBI36
Celera914,049,671 - 14,049,954RGD
Cytogenetic Map9p24.1UniSTS
HuRef914,079,508 - 14,079,791UniSTS
TNG Radiation Hybrid Map96590.0UniSTS
RH119845  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,116,334 - 14,116,621UniSTSGRCh37
Build 36914,106,334 - 14,106,621RGDNCBI36
Celera914,049,884 - 14,050,171RGD
Cytogenetic Map9p24.1UniSTS
HuRef914,079,721 - 14,080,008UniSTS
TNG Radiation Hybrid Map96593.0UniSTS
RH122803  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,343,380 - 14,343,708UniSTSGRCh37
Build 36914,333,380 - 14,333,708RGDNCBI36
Celera914,276,924 - 14,277,252RGD
Cytogenetic Map9p24.1UniSTS
HuRef914,307,172 - 14,307,500UniSTS
TNG Radiation Hybrid Map97010.0UniSTS
RH123249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,280,724 - 14,281,029UniSTSGRCh37
Build 36914,270,724 - 14,271,029RGDNCBI36
Celera914,214,265 - 14,214,570RGD
Cytogenetic Map9p24.1UniSTS
HuRef914,244,536 - 14,244,841UniSTS
TNG Radiation Hybrid Map97039.0UniSTS
RH118871  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,181,361 - 14,181,664UniSTSGRCh37
Build 36914,171,361 - 14,171,664RGDNCBI36
Celera914,114,914 - 14,115,217RGD
Cytogenetic Map9p24.1UniSTS
HuRef914,144,765 - 14,145,068UniSTS
TNG Radiation Hybrid Map96617.0UniSTS
D9S1065E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,082,993 - 14,083,178UniSTSGRCh37
Build 36914,072,993 - 14,073,178RGDNCBI36
Celera914,016,536 - 14,016,720RGD
Cytogenetic Map9p24.1UniSTS
HuRef914,046,373 - 14,046,557UniSTS
D8S1564E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,084,879 - 14,084,957UniSTSGRCh37
Build 36914,074,879 - 14,074,957RGDNCBI36
Celera914,018,422 - 14,018,500RGD
Cytogenetic Map9p24.1UniSTS
HuRef914,048,260 - 14,048,338UniSTS
SHGC-151148  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,274,051 - 14,274,174UniSTSGRCh37
Build 36914,264,051 - 14,264,174RGDNCBI36
Celera914,207,585 - 14,207,708RGD
Cytogenetic Map9p24.1UniSTS
HuRef914,237,855 - 14,237,978UniSTS
TNG Radiation Hybrid Map97043.0UniSTS
TNG Radiation Hybrid Map948127.0UniSTS
SHGC-146176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,380,902 - 14,381,181UniSTSGRCh37
Build 36914,370,902 - 14,371,181RGDNCBI36
Celera914,314,444 - 14,314,723RGD
Cytogenetic Map9p24.1UniSTS
HuRef914,344,336 - 14,344,614UniSTS
TNG Radiation Hybrid Map96989.0UniSTS
SHGC-149957  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,394,856 - 14,395,176UniSTSGRCh37
Build 36914,384,856 - 14,385,176RGDNCBI36
Celera914,328,345 - 14,328,665RGD
Cytogenetic Map9p24.1UniSTS
HuRef914,358,246 - 14,358,566UniSTS
TNG Radiation Hybrid Map96970.0UniSTS
RH78074  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,084,777 - 14,084,932UniSTSGRCh37
Build 36914,074,777 - 14,074,932RGDNCBI36
Celera914,018,320 - 14,018,475RGD
Cytogenetic Map9p24.1UniSTS
HuRef914,048,158 - 14,048,313UniSTS
GeneMap99-GB4 RH Map953.45UniSTS
SHGC-152211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,274,051 - 14,274,273UniSTSGRCh37
GRCh37914,274,051 - 14,274,289UniSTSGRCh37
Build 36914,264,051 - 14,264,289RGDNCBI36
Celera914,207,585 - 14,207,811UniSTS
Celera914,207,585 - 14,207,807UniSTS
Celera914,207,585 - 14,207,829UniSTS
Celera914,207,585 - 14,207,809RGD
Cytogenetic Map9p24.1UniSTS
HuRef914,237,855 - 14,238,101UniSTS
HuRef914,237,855 - 14,238,077UniSTS
HuRef914,237,855 - 14,238,099UniSTS
TNG Radiation Hybrid Map583041.0UniSTS
A006V16  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,083,782 - 14,083,966UniSTSGRCh37
Build 36914,073,782 - 14,073,966RGDNCBI36
Celera914,017,325 - 14,017,509RGD
Cytogenetic Map9p24.1UniSTS
HuRef914,047,163 - 14,047,347UniSTS
GeneMap99-GB4 RH Map953.75UniSTS
EST12E1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,086,842 - 14,087,043UniSTSGRCh37
Build 36914,076,842 - 14,077,043RGDNCBI36
Celera914,020,385 - 14,020,586RGD
HuRef914,050,223 - 14,050,424UniSTS
MARC_17865-17866:1025013775:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,087,734 - 14,088,233UniSTSGRCh37
Build 36914,077,734 - 14,078,233RGDNCBI36
Celera914,021,277 - 14,021,776RGD
HuRef914,051,115 - 14,051,614UniSTS
Nfib  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37914,303,772 - 14,303,823UniSTSGRCh37
Celera914,237,323 - 14,237,374UniSTS
HuRef914,267,578 - 14,267,629UniSTS
D9S274  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9p24.1UniSTS
TNG Radiation Hybrid Map97000.0UniSTS
GeneMap99-GB4 RH Map955.57UniSTS
NCBI RH Map9189.6UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR21hsa-miR-21-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI18384814
MIR21hsa-miR-21-5pMirecordsexternal_info{unchanged}NA18384814

Predicted Target Of
Summary Value
Count of predictions:6719
Count of miRNA genes:1292
Interacting mature miRNAs:1679
Transcripts:ENST00000380921, ENST00000380924, ENST00000380934, ENST00000380953, ENST00000380959, ENST00000397575, ENST00000397579, ENST00000397581, ENST00000493697, ENST00000543693, ENST00000606230
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.


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 1845 1852 872 266 208 116 3346 1096 1404 266 977 1494 156 1198 2028 1
Low 581 391 845 356 634 347 1009 1094 2325 153 473 111 19 1 6 760 1 2
Below cutoff 11 737 5 2 954 2 3 4 7 5 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001190737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001190738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_161382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_161383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_161384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_161385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF022215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI140312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL159169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL441963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL449443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP372854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD251577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA783871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA785516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U07810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U70862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U85193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000380921   ⟹   ENSP00000370308
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,305,753 - 14,313,957 (-)Ensembl
RefSeq Acc Id: ENST00000380924   ⟹   ENSP00000370311
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,088,304 - 14,180,792 (-)Ensembl
RefSeq Acc Id: ENST00000380934   ⟹   ENSP00000370321
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,087,860 - 14,398,983 (-)Ensembl
RefSeq Acc Id: ENST00000380953   ⟹   ENSP00000370340
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,081,848 - 14,314,141 (-)Ensembl
RefSeq Acc Id: ENST00000380959   ⟹   ENSP00000370346
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,081,848 - 14,313,985 (-)Ensembl
RefSeq Acc Id: ENST00000397575   ⟹   ENSP00000380705
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,087,572 - 14,314,069 (-)Ensembl
RefSeq Acc Id: ENST00000397579   ⟹   ENSP00000380709
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,087,603 - 14,314,582 (-)Ensembl
RefSeq Acc Id: ENST00000397581   ⟹   ENSP00000380711
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,087,600 - 14,314,519 (-)Ensembl
RefSeq Acc Id: ENST00000493697   ⟹   ENSP00000475362
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,307,036 - 14,308,013 (-)Ensembl
RefSeq Acc Id: ENST00000543693   ⟹   ENSP00000442888
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,081,843 - 14,180,802 (-)Ensembl
RefSeq Acc Id: ENST00000606230   ⟹   ENSP00000475813
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,087,629 - 14,322,338 (-)Ensembl
RefSeq Acc Id: ENST00000622520   ⟹   ENSP00000481181
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,305,760 - 14,313,963 (-)Ensembl
RefSeq Acc Id: ENST00000632375
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,094,218 - 14,096,650 (-)Ensembl
RefSeq Acc Id: ENST00000633317
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,087,882 - 14,096,613 (-)Ensembl
RefSeq Acc Id: ENST00000635877   ⟹   ENSP00000490945
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,087,629 - 14,321,948 (-)Ensembl
RefSeq Acc Id: ENST00000636057   ⟹   ENSP00000490762
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,087,629 - 14,308,073 (-)Ensembl
RefSeq Acc Id: ENST00000636063   ⟹   ENSP00000489634
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,150,180 - 14,313,843 (-)Ensembl
RefSeq Acc Id: ENST00000636432   ⟹   ENSP00000490588
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,087,674 - 14,322,001 (-)Ensembl
RefSeq Acc Id: ENST00000636735   ⟹   ENSP00000490864
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,087,674 - 14,300,231 (-)Ensembl
RefSeq Acc Id: ENST00000637640   ⟹   ENSP00000490020
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,087,631 - 14,307,928 (-)Ensembl
RefSeq Acc Id: ENST00000637742   ⟹   ENSP00000490950
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,087,637 - 14,313,648 (-)Ensembl
RefSeq Acc Id: ENST00000638165
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,361,294 - 14,398,711 (-)Ensembl
RefSeq Acc Id: ENST00000646622   ⟹   ENSP00000496424
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl914,087,629 - 14,322,060 (-)Ensembl
RefSeq Acc Id: NM_001190737   ⟹   NP_001177666
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,314,141 (-)NCBI
GRCh37914,081,842 - 14,398,982 (-)NCBI
HuRef914,045,221 - 14,362,372 (-)ENTREZGENE
CHM1_1914,081,962 - 14,314,175 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001190738   ⟹   NP_001177667
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,398,983 (-)NCBI
GRCh37914,081,842 - 14,398,982 (-)NCBI
HuRef914,045,221 - 14,362,372 (-)ENTREZGENE
CHM1_1914,081,962 - 14,399,030 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282787   ⟹   NP_001269716
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,180,804 (-)NCBI
HuRef914,045,221 - 14,362,372 (-)NCBI
CHM1_1914,081,962 - 14,180,958 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369458   ⟹   NP_001356387
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,532,077 (-)NCBI
RefSeq Acc Id: NM_001369459   ⟹   NP_001356388
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,532,077 (-)NCBI
RefSeq Acc Id: NM_001369460   ⟹   NP_001356389
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,322,387 (-)NCBI
RefSeq Acc Id: NM_001369461   ⟹   NP_001356390
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,314,141 (-)NCBI
RefSeq Acc Id: NM_001369462   ⟹   NP_001356391
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,532,077 (-)NCBI
RefSeq Acc Id: NM_001369463   ⟹   NP_001356392
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,322,387 (-)NCBI
RefSeq Acc Id: NM_001369464   ⟹   NP_001356393
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,314,141 (-)NCBI
RefSeq Acc Id: NM_001369465   ⟹   NP_001356394
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,308,035 (-)NCBI
RefSeq Acc Id: NM_001369466   ⟹   NP_001356395
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,322,387 (-)NCBI
RefSeq Acc Id: NM_001369467   ⟹   NP_001356396
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,308,035 (-)NCBI
RefSeq Acc Id: NM_001369468   ⟹   NP_001356397
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,532,077 (-)NCBI
RefSeq Acc Id: NM_001369469   ⟹   NP_001356398
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,316,137 (-)NCBI
RefSeq Acc Id: NM_001369470   ⟹   NP_001356399
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,322,387 (-)NCBI
RefSeq Acc Id: NM_001369471   ⟹   NP_001356400
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,314,141 (-)NCBI
RefSeq Acc Id: NM_001369472   ⟹   NP_001356401
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,322,387 (-)NCBI
RefSeq Acc Id: NM_001369473   ⟹   NP_001356402
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,322,387 (-)NCBI
RefSeq Acc Id: NM_001369474   ⟹   NP_001356403
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,308,035 (-)NCBI
RefSeq Acc Id: NM_001369475   ⟹   NP_001356404
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,314,141 (-)NCBI
RefSeq Acc Id: NM_001369476   ⟹   NP_001356405
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,308,035 (-)NCBI
RefSeq Acc Id: NM_001369477   ⟹   NP_001356406
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,314,141 (-)NCBI
RefSeq Acc Id: NM_001369478   ⟹   NP_001356407
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,322,387 (-)NCBI
RefSeq Acc Id: NM_001369479   ⟹   NP_001356408
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,300,264 (-)NCBI
RefSeq Acc Id: NM_001369480   ⟹   NP_001356409
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,300,264 (-)NCBI
RefSeq Acc Id: NM_001369481   ⟹   NP_001356410
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,305,753 - 14,314,141 (-)NCBI
RefSeq Acc Id: NM_005596   ⟹   NP_005587
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,843 - 14,314,046 (-)NCBI
GRCh37914,081,842 - 14,398,982 (-)ENTREZGENE
GRCh37914,081,842 - 14,398,982 (-)NCBI
Build 36914,071,847 - 14,303,945 (-)NCBI Archive
HuRef914,045,221 - 14,362,372 (-)ENTREZGENE
CHM1_1914,081,962 - 14,314,175 (-)NCBI
Sequence:
RefSeq Acc Id: NR_161382
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,314,954 (-)NCBI
RefSeq Acc Id: NR_161383
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,322,387 (-)NCBI
RefSeq Acc Id: NR_161384
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,306,845 (-)NCBI
RefSeq Acc Id: NR_161385
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,180,804 (-)NCBI
RefSeq Acc Id: XM_005251467   ⟹   XP_005251524
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,313,934 (-)NCBI
GRCh37914,081,842 - 14,398,982 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005251471   ⟹   XP_005251528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,182,683 (-)NCBI
GRCh37914,081,842 - 14,398,982 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716773   ⟹   XP_006716836
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,313,934 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716774   ⟹   XP_006716837
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,313,934 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716775   ⟹   XP_006716838
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,313,934 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001746308
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,313,934 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001746309
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,081,848 - 14,313,934 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001177666 (Get FASTA)   NCBI Sequence Viewer  
  NP_001177667 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269716 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356387 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356388 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356389 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356390 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356391 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356392 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356393 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356394 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356395 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356396 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356397 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356398 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356399 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356400 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356401 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356402 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356403 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356404 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356405 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356406 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356407 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356408 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356409 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356410 (Get FASTA)   NCBI Sequence Viewer  
  NP_005587 (Get FASTA)   NCBI Sequence Viewer  
  XP_005251524 (Get FASTA)   NCBI Sequence Viewer  
  XP_005251528 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716836 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716837 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716838 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA93125 (Get FASTA)   NCBI Sequence Viewer  
  AAB41899 (Get FASTA)   NCBI Sequence Viewer  
  AAB51197 (Get FASTA)   NCBI Sequence Viewer  
  AAB82594 (Get FASTA)   NCBI Sequence Viewer  
  AAH01283 (Get FASTA)   NCBI Sequence Viewer  
  AAP35930 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33690 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33691 (Get FASTA)   NCBI Sequence Viewer  
  BAD18416 (Get FASTA)   NCBI Sequence Viewer  
  BAF83292 (Get FASTA)   NCBI Sequence Viewer  
  BAG61536 (Get FASTA)   NCBI Sequence Viewer  
  CAH56156 (Get FASTA)   NCBI Sequence Viewer  
  EAW58694 (Get FASTA)   NCBI Sequence Viewer  
  EAW58695 (Get FASTA)   NCBI Sequence Viewer  
  EAW58696 (Get FASTA)   NCBI Sequence Viewer  
  EAW58697 (Get FASTA)   NCBI Sequence Viewer  
  EAW58698 (Get FASTA)   NCBI Sequence Viewer  
  EAW58699 (Get FASTA)   NCBI Sequence Viewer  
  O00712 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001177667   ⟸   NM_001190738
- Peptide Label: isoform 2
- UniProtKB: O00712 (UniProtKB/Swiss-Prot),   A0A0A0MRX8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005587   ⟸   NM_005596
- Peptide Label: isoform 3
- UniProtKB: O00712 (UniProtKB/Swiss-Prot),   Q5VW28 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001177666   ⟸   NM_001190737
- Peptide Label: isoform 1
- UniProtKB: O00712 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005251524   ⟸   XM_005251467
- Peptide Label: isoform X1
- UniProtKB: Q5VW26 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005251528   ⟸   XM_005251471
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: NP_001269716   ⟸   NM_001282787
- Peptide Label: isoform 4
- UniProtKB: O00712 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006716836   ⟸   XM_006716773
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006716838   ⟸   XM_006716775
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_006716837   ⟸   XM_006716774
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001356397   ⟸   NM_001369468
- Peptide Label: isoform 15
RefSeq Acc Id: NP_001356391   ⟸   NM_001369462
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001356388   ⟸   NM_001369459
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001356387   ⟸   NM_001369458
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001356407   ⟸   NM_001369478
- Peptide Label: isoform 25
RefSeq Acc Id: NP_001356399   ⟸   NM_001369470
- Peptide Label: isoform 17
RefSeq Acc Id: NP_001356402   ⟸   NM_001369473
- Peptide Label: isoform 20
RefSeq Acc Id: NP_001356401   ⟸   NM_001369472
- Peptide Label: isoform 19
RefSeq Acc Id: NP_001356395   ⟸   NM_001369466
- Peptide Label: isoform 13
RefSeq Acc Id: NP_001356392   ⟸   NM_001369463
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001356389   ⟸   NM_001369460
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001356398   ⟸   NM_001369469
- Peptide Label: isoform 16
RefSeq Acc Id: NP_001356404   ⟸   NM_001369475
- Peptide Label: isoform 22
RefSeq Acc Id: NP_001356406   ⟸   NM_001369477
- Peptide Label: isoform 24
RefSeq Acc Id: NP_001356400   ⟸   NM_001369471
- Peptide Label: isoform 18
RefSeq Acc Id: NP_001356393   ⟸   NM_001369464
- Peptide Label: isoform 11
RefSeq Acc Id: NP_001356390   ⟸   NM_001369461
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001356405   ⟸   NM_001369476
- Peptide Label: isoform 23
RefSeq Acc Id: NP_001356396   ⟸   NM_001369467
- Peptide Label: isoform 14
RefSeq Acc Id: NP_001356394   ⟸   NM_001369465
- Peptide Label: isoform 12
RefSeq Acc Id: NP_001356403   ⟸   NM_001369474
- Peptide Label: isoform 21
RefSeq Acc Id: NP_001356409   ⟸   NM_001369480
- Peptide Label: isoform 27
RefSeq Acc Id: NP_001356408   ⟸   NM_001369479
- Peptide Label: isoform 26
RefSeq Acc Id: NP_001356410   ⟸   NM_001369481
- Peptide Label: isoform 28
RefSeq Acc Id: ENSP00000490945   ⟸   ENST00000635877
RefSeq Acc Id: ENSP00000489634   ⟸   ENST00000636063
RefSeq Acc Id: ENSP00000490762   ⟸   ENST00000636057
RefSeq Acc Id: ENSP00000442888   ⟸   ENST00000543693
RefSeq Acc Id: ENSP00000490588   ⟸   ENST00000636432
RefSeq Acc Id: ENSP00000490864   ⟸   ENST00000636735
RefSeq Acc Id: ENSP00000481181   ⟸   ENST00000622520
RefSeq Acc Id: ENSP00000490950   ⟸   ENST00000637742
RefSeq Acc Id: ENSP00000490020   ⟸   ENST00000637640
RefSeq Acc Id: ENSP00000475362   ⟸   ENST00000493697
RefSeq Acc Id: ENSP00000370311   ⟸   ENST00000380924
RefSeq Acc Id: ENSP00000370308   ⟸   ENST00000380921
RefSeq Acc Id: ENSP00000370321   ⟸   ENST00000380934
RefSeq Acc Id: ENSP00000370346   ⟸   ENST00000380959
RefSeq Acc Id: ENSP00000370340   ⟸   ENST00000380953
RefSeq Acc Id: ENSP00000475813   ⟸   ENST00000606230
RefSeq Acc Id: ENSP00000496424   ⟸   ENST00000646622
RefSeq Acc Id: ENSP00000380709   ⟸   ENST00000397579
RefSeq Acc Id: ENSP00000380705   ⟸   ENST00000397575
RefSeq Acc Id: ENSP00000380711   ⟸   ENST00000397581
Protein Domains
CTF/NF-I

Promoters
RGD ID:7214685
Promoter ID:EPDNEW_H13088
Type:initiation region
Name:NFIB_3
Description:nuclear factor I B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13090  EPDNEW_H13089  EPDNEW_H13092  EPDNEW_H13091  EPDNEW_H13093  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,180,802 - 14,180,862EPDNEW
RGD ID:6807551
Promoter ID:HG_KWN:62655
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000380934,   ENST00000380937,   ENST00000380945
Position:
Human AssemblyChrPosition (strand)Source
Build 36914,303,756 - 14,304,882 (-)MPROMDB
RGD ID:6807913
Promoter ID:HG_KWN:62656
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000055468,   OTTHUMT00000055469,   OTTHUMT00000055470,   OTTHUMT00000055473,   UC003ZLF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36914,304,141 - 14,305,397 (-)MPROMDB
RGD ID:6813671
Promoter ID:HG_ACW:79774
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NFIB.BAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36914,312,361 - 14,312,861 (-)MPROMDB
RGD ID:7214689
Promoter ID:EPDNEW_H13089
Type:initiation region
Name:NFIB_2
Description:nuclear factor I B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13088  EPDNEW_H13090  EPDNEW_H13092  EPDNEW_H13091  EPDNEW_H13093  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,313,648 - 14,313,708EPDNEW
RGD ID:7214687
Promoter ID:EPDNEW_H13090
Type:initiation region
Name:NFIB_1
Description:nuclear factor I B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13088  EPDNEW_H13089  EPDNEW_H13092  EPDNEW_H13091  EPDNEW_H13093  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,313,900 - 14,313,960EPDNEW
RGD ID:7214693
Promoter ID:EPDNEW_H13091
Type:initiation region
Name:NFIB_6
Description:nuclear factor I B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13088  EPDNEW_H13090  EPDNEW_H13089  EPDNEW_H13092  EPDNEW_H13093  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,314,008 - 14,314,068EPDNEW
RGD ID:7214691
Promoter ID:EPDNEW_H13092
Type:initiation region
Name:NFIB_5
Description:nuclear factor I B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13088  EPDNEW_H13090  EPDNEW_H13089  EPDNEW_H13091  EPDNEW_H13093  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,437,794 - 14,437,854EPDNEW
RGD ID:7214705
Promoter ID:EPDNEW_H13093
Type:initiation region
Name:NFIB_4
Description:nuclear factor I B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13088  EPDNEW_H13090  EPDNEW_H13089  EPDNEW_H13092  EPDNEW_H13091  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,532,077 - 14,532,137EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p23-22.2(chr9:9661633-18034356)x1 copy number loss See cases [RCV000050580] Chr9:9661633..18034356 [GRCh38]
Chr9:9661633..18034354 [GRCh37]
Chr9:9651633..18024354 [NCBI36]
Chr9:9p23-22.2
pathogenic
GRCh38/hg38 9p23-22.2(chr9:11086096-17636671)x1 copy number loss See cases [RCV000051021] Chr9:11086096..17636671 [GRCh38]
Chr9:11086096..17636669 [GRCh37]
Chr9:11076096..17626669 [NCBI36]
Chr9:9p23-22.2
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p23-22.2(chr9:11818291-17963882)x1 copy number loss See cases [RCV000052899] Chr9:11818291..17963882 [GRCh38]
Chr9:11818291..17963880 [GRCh37]
Chr9:11808291..17953880 [NCBI36]
Chr9:9p23-22.2
pathogenic
GRCh38/hg38 9p22.3(chr9:14210805-15317500)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052900]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052900]|See cases [RCV000052900] Chr9:14210805..15317500 [GRCh38]
Chr9:14210804..15317498 [GRCh37]
Chr9:14200804..15307498 [NCBI36]
Chr9:9p22.3
pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1 copy number loss See cases [RCV000052860] Chr9:220253..18073359 [GRCh38]
Chr9:220253..18073357 [GRCh37]
Chr9:210253..18063357 [NCBI36]
Chr9:9p24.3-22.2
pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:1242978-18957216)x1 copy number loss See cases [RCV000052863] Chr9:1242978..18957216 [GRCh38]
Chr9:1242978..18957214 [GRCh37]
Chr9:1232978..18947214 [NCBI36]
Chr9:9p24.3-22.1
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 copy number gain See cases [RCV000053704] Chr9:204193..22086858 [GRCh38]
Chr9:204193..22086857 [GRCh37]
Chr9:194193..22076857 [NCBI36]
Chr9:9p24.3-21.3
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1 copy number loss See cases [RCV000054315] Chr9:111216..14650762 [GRCh38]
Chr9:111216..14650760 [GRCh37]
Chr9:101216..14640760 [NCBI36]
Chr9:9p24.3-22.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3 copy number gain See cases [RCV000053749] Chr9:9543538..30266463 [GRCh38]
Chr9:9543538..30266461 [GRCh37]
Chr9:9533538..30256461 [NCBI36]
Chr9:9p23-21.1
pathogenic
GRCh38/hg38 9p23-13.3(chr9:13526091-34261642)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|See cases [RCV000053750] Chr9:13526091..34261642 [GRCh38]
Chr9:13526090..34261640 [GRCh37]
Chr9:13516090..34251640 [NCBI36]
Chr9:9p23-13.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1 copy number loss See cases [RCV000133825] Chr9:204193..18073359 [GRCh38]
Chr9:204193..18073357 [GRCh37]
Chr9:194193..18063357 [NCBI36]
Chr9:9p24.3-22.2
pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 copy number gain See cases [RCV000134037] Chr9:220257..29424848 [GRCh38]
Chr9:220257..29424846 [GRCh37]
Chr9:210257..29414846 [NCBI36]
Chr9:9p24.3-21.1
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1 copy number loss See cases [RCV000135660] Chr9:220253..18708805 [GRCh38]
Chr9:220253..18708803 [GRCh37]
Chr9:210253..18698803 [NCBI36]
Chr9:9p24.3-22.1
pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1 copy number loss See cases [RCV000135694] Chr9:204104..18882281 [GRCh38]
Chr9:204104..18882279 [GRCh37]
Chr9:194104..18872279 [NCBI36]
Chr9:9p24.3-22.1
pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12
pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1 copy number loss See cases [RCV000135968] Chr9:204193..16897580 [GRCh38]
Chr9:204193..16897578 [GRCh37]
Chr9:194193..16887578 [NCBI36]
Chr9:9p24.3-22.2
pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1 copy number loss See cases [RCV000136859] Chr9:214367..16307944 [GRCh38]
Chr9:214367..16307942 [GRCh37]
Chr9:204367..16297942 [NCBI36]
Chr9:9p24.3-22.3
pathogenic
GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 copy number gain See cases [RCV000136680] Chr9:4661872..27661572 [GRCh38]
Chr9:4661872..27661570 [GRCh37]
Chr9:4651872..27651570 [NCBI36]
Chr9:9p24.1-21.2
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1 copy number loss See cases [RCV000137669] Chr9:204104..14182668 [GRCh38]
Chr9:204104..14182667 [GRCh37]
Chr9:194104..14172667 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3 copy number gain See cases [RCV000138499] Chr9:459131..24207894 [GRCh38]
Chr9:459131..24207892 [GRCh37]
Chr9:449131..24197892 [NCBI36]
Chr9:9p24.3-21.3
pathogenic
GRCh38/hg38 9p23-22.3(chr9:14182609-14903052)x1 copy number loss See cases [RCV000138542] Chr9:14182609..14903052 [GRCh38]
Chr9:14182608..14903050 [GRCh37]
Chr9:14172608..14893050 [NCBI36]
Chr9:9p23-22.3
uncertain significance
GRCh38/hg38 9p22.3(chr9:14210979-14542070)x3 copy number gain See cases [RCV000139369] Chr9:14210979..14542070 [GRCh38]
Chr9:14210978..14542068 [GRCh37]
Chr9:14200978..14532068 [NCBI36]
Chr9:9p22.3
likely benign
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3
pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 copy number gain See cases [RCV000139621] Chr9:204104..27963369 [GRCh38]
Chr9:204104..27963367 [GRCh37]
Chr9:194104..27953367 [NCBI36]
Chr9:9p24.3-21.2
pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 copy number gain See cases [RCV000141662] Chr9:203861..31423873 [GRCh38]
Chr9:203861..31423871 [GRCh37]
Chr9:193861..31413871 [NCBI36]
Chr9:9p24.3-21.1
pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1 copy number loss See cases [RCV000141442] Chr9:322690..16401656 [GRCh38]
Chr9:322690..16401654 [GRCh37]
Chr9:312690..16391654 [NCBI36]
Chr9:9p24.3-22.3
pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1 copy number loss See cases [RCV000142964] Chr9:204090..15260600 [GRCh38]
Chr9:204090..15260598 [GRCh37]
Chr9:194090..15250598 [NCBI36]
Chr9:9p24.3-22.3
pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3 copy number gain See cases [RCV000240225] Chr9:213161..19450250 [GRCh37]
Chr9:9p24.3-22.1
pathogenic
t(8;9)(q13.1;p22.3) translocation Adenoid cystic carcinoma [RCV000585744] Chr8:67501293..67501294 [GRCh37]
Chr9:14097695..14097696 [GRCh37]
Chr8:8q13.1
Chr9:9p23
pathogenic
t(6;9)(q23.3;p22.3) translocation Adenoid cystic carcinoma [RCV000585743] Chr6:135516358..135516359 [GRCh37]
Chr9:14091611..14091612 [GRCh37]
Chr6:6q23.3
Chr9:9p23
pathogenic
t(6;9)(q23.3;p22.3) translocation Adenoid cystic carcinoma [RCV000585766] Chr6:135522688..135522689 [GRCh37]
Chr9:14093875..14093876 [GRCh37]
Chr6:6q23.3
Chr9:9p23
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)x1 copy number loss See cases [RCV000446597] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16925108)x1 copy number loss See cases [RCV000447415] Chr9:203861..16925108 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)x1 copy number loss See cases [RCV000447144] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16670878)x1 copy number loss See cases [RCV000446566] Chr9:203861..16670878 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)x1 copy number loss See cases [RCV000445963] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p23-22.3(chr9:13106806-14639971)x1 copy number loss Intellectual disability [RCV000681559] Chr9:13106806..14639971 [GRCh37]
Chr9:9p23-22.3
pathogenic
GRCh37/hg19 9p23-22.2(chr9:13739630-18023839)x1 copy number loss Oxycephaly [RCV000681563] Chr9:13739630..18023839 [GRCh37]
Chr9:9p23-22.2
pathogenic
GRCh38/hg38 9p23-22.3(chr9:14102176-14386039)x1 copy number loss Intellectual disability [RCV000681557] Chr9:14102176..14386039 [GRCh38]
Chr9:14102175..14386038 [GRCh37]
Chr9:9p23-22.3
pathogenic
GRCh37/hg19 9p23-22.3(chr9:13034407-14653394)x1 copy number loss Wide anterior fontanel [RCV000681560] Chr9:13034407..14653394 [GRCh37]
Chr9:9p23-22.3
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1 copy number loss See cases [RCV000445998] Chr9:213161..17496750 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter) single nucleotide variant Macrocephalus [RCV000677901]|Macrocephaly, acquired, with impaired intellectual development [RCV000754571]|not specified [RCV000480045] Chr9:14307286 [GRCh38]
Chr9:14307285 [GRCh37]
Chr9:9p22.3
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 9p24.3-22.2(chr9:203861-17125893)x1 copy number loss See cases [RCV000512122] Chr9:203861..17125893 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.2-22.3(chr9:4581369-14848338)x1 copy number loss See cases [RCV000510332] Chr9:4581369..14848338 [GRCh37]
Chr9:9p24.2-22.3
pathogenic
GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3 copy number gain See cases [RCV000510425] Chr9:5900425..30008330 [GRCh37]
Chr9:9p24.1-21.1
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1 copy number loss See cases [RCV000510944] Chr9:203861..17655298 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p23-21.2(chr9:10320113-26205565)x1 copy number loss PARP Inhibitor response [RCV000626433] Chr9:10320113..26205565 [GRCh37]
Chr9:9p23-21.2
drug response
t(6;9)(q23.3;p22.3) translocation Adenoid cystic carcinoma [RCV000585780] Chr6:135515857..135515858 [GRCh37]
Chr9:14109238..14109239 [GRCh37]
Chr6:6q23.3
Chr9:9p23
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2
likely pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
pathogenic
t(6;9)(q23.3;p22.3) translocation Adenoid cystic carcinoma [RCV000585765] Chr6:135516423..135516424 [GRCh37]
Chr9:14108794..14108795 [GRCh37]
Chr6:6q23.3
Chr9:9p23
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001190737.2(NFIB):c.376A>G (p.Lys126Glu) single nucleotide variant Macrocephalus [RCV000677903]|Macrocephaly, acquired, with impaired intellectual development [RCV000754575]|Marfanoid habitus and intellectual disability [RCV000850410] Chr9:14307175 [GRCh38]
Chr9:14307174 [GRCh37]
Chr9:9p22.3
pathogenic|likely pathogenic
NM_001190737.2(NFIB):c.395T>C (p.Leu132Pro) single nucleotide variant Macrocephalus [RCV000677904]|Macrocephaly, acquired, with impaired intellectual development [RCV000754576] Chr9:14307156 [GRCh38]
Chr9:14307155 [GRCh37]
Chr9:9p22.3
pathogenic|likely pathogenic
NM_001190737.2(NFIB):c.758_759dup (p.Asn254Ter) duplication Macrocephalus [RCV000677905]|Macrocephaly, acquired, with impaired intellectual development [RCV000754572] Chr9:14150191..14150192 [GRCh38]
Chr9:14150190..14150191 [GRCh37]
Chr9:9p23
pathogenic
GRCh38/hg38 9p23-22.3(chr9:14098660-14324148)x1 copy number loss Macrocephalus [RCV000681556] Chr9:14098660..14324148 [GRCh38]
Chr9:14098659..14324147 [GRCh37]
Chr9:9p23-22.3
pathogenic
GRCh38/hg38 9p23-22.3(chr9:13974416-14286260)x1 copy number loss Dolichocephaly [RCV000681558] Chr9:13974416..14286260 [GRCh38]
Chr9:13974415..14286259 [GRCh37]
Chr9:9p23-22.3
pathogenic
GRCh37/hg19 9p23-22.2(chr9:14178768-16619009)x1 copy number loss Intellectual disability [RCV000681561] Chr9:14178768..16619009 [GRCh37]
Chr9:9p23-22.2
pathogenic
GRCh37/hg19 9p23-22.2(chr9:13563537-18491752)x1 copy number loss Turricephaly [RCV000681562] Chr9:13563537..18491752 [GRCh37]
Chr9:9p23-22.2
pathogenic
NM_001190737.2(NFIB):c.341A>C (p.Lys114Thr) single nucleotide variant Macrocephalus [RCV000677902]|Macrocephaly, acquired, with impaired intellectual development [RCV000754574] Chr9:14307210 [GRCh38]
Chr9:14307209 [GRCh37]
Chr9:9p22.3
pathogenic
NM_001190737.2(NFIB):c.109C>T (p.Arg37Ter) single nucleotide variant Macrocephalus [RCV000677900]|Macrocephaly, acquired, with impaired intellectual development [RCV000754570] Chr9:14307442 [GRCh38]
Chr9:14307441 [GRCh37]
Chr9:9p22.3
pathogenic
NM_001190737.2(NFIB):c.1067C>T (p.Ser356Leu) single nucleotide variant Macrocephalus [RCV000677907] Chr9:14120618 [GRCh38]
Chr9:14120617 [GRCh37]
Chr9:9p23
uncertain significance
NM_001190737.2(NFIB):c.1063_1076del (p.Ile355fs) deletion Macrocephalus [RCV000677906]|Macrocephaly, acquired, with impaired intellectual development [RCV000754573] Chr9:14120609..14120622 [GRCh38]
Chr9:14120608..14120621 [GRCh37]
Chr9:9p23
pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3 copy number gain not provided [RCV000683170] Chr9:203861..20653468 [GRCh37]
Chr9:9p24.3-21.3
pathogenic
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 copy number gain not provided [RCV000683171] Chr9:203861..26397133 [GRCh37]
Chr9:9p24.3-21.2
pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14744606)x1 copy number loss not provided [RCV000683168] Chr9:203861..14744606 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p23-22.3(chr9:14085583-14312724)x4 copy number gain not provided [RCV000748240] Chr9:14085583..14312724 [GRCh37]
Chr9:9p23-22.3
benign
GRCh37/hg19 9p23-22.3(chr9:14088789-14376038)x3 copy number gain not provided [RCV000748241] Chr9:14088789..14376038 [GRCh37]
Chr9:9p23-22.3
benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3 copy number gain not provided [RCV000748062] Chr9:46587..22012051 [GRCh37]
Chr9:9p24.3-21.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.2-21.3(chr9:4420767-22195820)x3 copy number gain not provided [RCV000748122] Chr9:4420767..22195820 [GRCh37]
Chr9:9p24.2-21.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_001190737.2(NFIB):c.1330C>T (p.Arg444Ter) single nucleotide variant not provided [RCV000782086] Chr9:14116262 [GRCh38]
Chr9:14116261 [GRCh37]
Chr9:9p23
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001190737.2(NFIB):c.1062C>T (p.Val354=) single nucleotide variant not provided [RCV000979252] Chr9:14120623 [GRCh38]
Chr9:14120622 [GRCh37]
Chr9:9p23
likely benign
GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3 copy number gain not provided [RCV000845664] Chr9:203861..19448473 [GRCh37]
Chr9:9p24.3-22.1
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
NM_001190737.2(NFIB):c.734del (p.Pro245fs) deletion not provided [RCV000999137] Chr9:14150217 [GRCh38]
Chr9:14150216 [GRCh37]
Chr9:9p23
likely pathogenic
GRCh37/hg19 9p23(chr9:13759474-14144821)x1 copy number loss See cases [RCV001194577] Chr9:13759474..14144821 [GRCh37]
Chr9:9p23
likely pathogenic
NM_001190737.2(NFIB):c.83C>T (p.Ala28Val) single nucleotide variant not provided [RCV001200495] Chr9:14307468 [GRCh38]
Chr9:14307467 [GRCh37]
Chr9:9p22.3
likely pathogenic
GRCh37/hg19 9p23-22.3(chr9:12392499-14446948)x1 copy number loss not provided [RCV000846797] Chr9:12392499..14446948 [GRCh37]
Chr9:9p23-22.3
uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
NM_001190737.2(NFIB):c.115C>T (p.Arg39Cys) single nucleotide variant not provided [RCV000999138] Chr9:14307436 [GRCh38]
Chr9:14307435 [GRCh37]
Chr9:9p22.3
likely pathogenic
NM_001190737.2(NFIB):c.1131C>T (p.Ala377=) single nucleotide variant not provided [RCV000910646] Chr9:14120554 [GRCh38]
Chr9:14120553 [GRCh37]
Chr9:9p23
likely benign
NM_001190737.2(NFIB):c.657T>C (p.Asn219=) single nucleotide variant not provided [RCV000920015] Chr9:14155853 [GRCh38]
Chr9:14155852 [GRCh37]
Chr9:9p23
likely benign
GRCh37/hg19 9p23-22.3(chr9:13798726-14649846)x1 copy number loss not provided [RCV001006211] Chr9:13798726..14649846 [GRCh37]
Chr9:9p23-22.3
uncertain significance
GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1 copy number loss Chromosome 9p deletion syndrome [RCV001263225] Chr9:204193..18073357 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p23-22.2(chr9:13638428-17121764)x1 copy number loss Chromosome 9p deletion syndrome [RCV001263226] Chr9:13638428..17121764 [GRCh37]
Chr9:9p23-22.2
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1 copy number loss not provided [RCV001006163] Chr9:203861..17789410 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-14103730)x1 copy number loss not provided [RCV001006165] Chr9:203861..14103730 [GRCh37]
Chr9:9p24.3-23
pathogenic
NM_001190737.2(NFIB):c.1147T>C (p.Ser383Pro) single nucleotide variant Macrocephaly, acquired, with impaired intellectual development [RCV001196846] Chr9:14120538 [GRCh38]
Chr9:14120537 [GRCh37]
Chr9:9p23
uncertain significance
NM_001190737.2(NFIB):c.787_788del (p.Leu263fs) microsatellite Macrocephaly, acquired, with impaired intellectual development [RCV001253696] Chr9:14150163..14150164 [GRCh38]
Chr9:14150162..14150163 [GRCh37]
Chr9:9p23
uncertain significance
NM_001190737.2(NFIB):c.386G>A (p.Arg129His) single nucleotide variant Macrocephaly, acquired, with impaired intellectual development [RCV001262926] Chr9:14307165 [GRCh38]
Chr9:14307164 [GRCh37]
Chr9:9p22.3
uncertain significance
GRCh37/hg19 9p23(chr9:14067538-14159969)x1 copy number loss not provided [RCV001260072] Chr9:14067538..14159969 [GRCh37]
Chr9:9p23
pathogenic
NM_001190737.2(NFIB):c.419G>T (p.Gly140Val) single nucleotide variant Inborn genetic diseases [RCV001265798] Chr9:14307132 [GRCh38]
Chr9:14307131 [GRCh37]
Chr9:9p22.3
uncertain significance
NM_001190737.2(NFIB):c.594T>G (p.Asn198Lys) single nucleotide variant Macrocephaly, acquired, with impaired intellectual development [RCV001262718] Chr9:14179749 [GRCh38]
Chr9:14179748 [GRCh37]
Chr9:9p23
uncertain significance
GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812) copy number loss Trigonocephaly [RCV001352660] Chr9:204193..18654812 [GRCh37]
Chr9:9p24.3-22.1
pathogenic
NM_001190737.2(NFIB):c.901C>T (p.Arg301Ter) single nucleotide variant Macrocephaly, acquired, with impaired intellectual development [RCV001270713] Chr9:14146713 [GRCh38]
Chr9:14146712 [GRCh37]
Chr9:9p23
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7785 AgrOrtholog
COSMIC NFIB COSMIC
Ensembl Genes ENSG00000147862 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000370308 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000370311 UniProtKB/TrEMBL
  ENSP00000370321 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000370340 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370346 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000380705 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000380709 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000380711 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000442888 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000475362 UniProtKB/TrEMBL
  ENSP00000475813 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000481181 UniProtKB/TrEMBL
  ENSP00000489634 UniProtKB/TrEMBL
  ENSP00000490020 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000490588 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000490762 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000490864 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000490945 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000490950 UniProtKB/TrEMBL
  ENSP00000496424 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000380921 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000380924 UniProtKB/TrEMBL
  ENST00000380934 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000380953 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000380959 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000397575 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000397579 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000397581 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000493697 UniProtKB/TrEMBL
  ENST00000543693 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000606230 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000622520 UniProtKB/TrEMBL
  ENST00000635877 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000636057 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000636063 UniProtKB/TrEMBL
  ENST00000636432 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000636735 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000637640 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000637742 UniProtKB/TrEMBL
  ENST00000646622 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000147862 GTEx
HGNC ID HGNC:7785 ENTREZGENE
Human Proteome Map NFIB Human Proteome Map
InterPro CTF/NFI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CTF/NFI_DNA-bd-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CTF/NFI_DNA-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CTF/NFI_DNA-bd_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAD_homology1_Dwarfin-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4781 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4781 ENTREZGENE
OMIM 600728 OMIM
  618286 OMIM
PANTHER PTHR11492 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CTF_NFI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NfI_DNAbd_pre-N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31591 PharmGKB
PROSITE CTF_NFI_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CTF_NFI_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WXP2_HUMAN UniProtKB/TrEMBL
  A0A0A0MRX8 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z4H3_HUMAN UniProtKB/TrEMBL
  A0A1B0GTC1_HUMAN UniProtKB/TrEMBL
  A0A1B0GU97_HUMAN UniProtKB/TrEMBL
  A0A1B0GVN4_HUMAN UniProtKB/TrEMBL
  A0A1B0GW37_HUMAN UniProtKB/TrEMBL
  A0A1B0GWB8_HUMAN UniProtKB/TrEMBL
  A0A1B0GWI9_HUMAN UniProtKB/TrEMBL
  A0A1B0GWJ4_HUMAN UniProtKB/TrEMBL
  A0A2R8Y7V8_HUMAN UniProtKB/TrEMBL
  NFIB_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5VW26 ENTREZGENE, UniProtKB/TrEMBL
  Q5VW27_HUMAN UniProtKB/TrEMBL
  Q5VW28 ENTREZGENE, UniProtKB/TrEMBL
  Q5VW30_HUMAN UniProtKB/TrEMBL
  Q5VW31_HUMAN UniProtKB/TrEMBL
  Q5W0Y9_HUMAN UniProtKB/TrEMBL
  U3KPY9_HUMAN UniProtKB/TrEMBL
  U3KQE8_HUMAN UniProtKB/TrEMBL
UniProt Secondary G3V1P1 UniProtKB/Swiss-Prot
  H7BYE8 UniProtKB/Swiss-Prot
  O00166 UniProtKB/Swiss-Prot
  Q12858 UniProtKB/Swiss-Prot
  Q5VW29 UniProtKB/Swiss-Prot
  Q63HM5 UniProtKB/Swiss-Prot
  Q6ZNF9 UniProtKB/Swiss-Prot
  Q96J45 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 NFIB  nuclear factor I B    nuclear factor I/B  Symbol and/or name change 5135510 APPROVED