NFIX (nuclear factor I X) - Rat Genome Database
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Gene: NFIX (nuclear factor I X) Homo sapiens
Analyze
Symbol: NFIX
Name: nuclear factor I X
RGD ID: 69161
HGNC Page HGNC
Description: Exhibits sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II and positive regulation of transcription by RNA polymerase II. Localizes to nucleoplasm. Implicated in Marshall-Smith syndrome and Sotos syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CCAAT-binding transcription factor; CCAAT-box-binding transcription factor; CTF; MRSHSS; NF-I/X; NF1-X; NF1A; NFI-X; nuclear factor 1 X-type; nuclear factor 1/X; nuclear factor i/x; nuclear factor I/X (CCAAT-binding transcription factor); SOTOS2; 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 Ensembl1912,995,475 - 13,098,796 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1912,995,608 - 13,098,796 (+)EnsemblGRCh38hg38GRCh38
GRCh381912,995,475 - 13,098,796 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371913,106,584 - 13,209,610 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh371913,106,289 - 13,209,610 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361912,967,584 - 13,070,610 (+)NCBINCBI36hg18NCBI36
Build 341912,967,583 - 13,070,610NCBI
Celera1912,996,993 - 13,100,014 (+)NCBI
Cytogenetic Map19p13.13NCBI
HuRef1912,707,303 - 12,782,249 (+)NCBIHuRef
CHM1_11913,107,626 - 13,210,624 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrobenzenesulfonic acid  (ISO)
2,4-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP,ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxynon-2-enal  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
bosentan  (EXP)
buta-1,3-diene  (ISO)
C60 fullerene  (ISO)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
copper(II) chloride  (EXP)
cyclosporin A  (EXP)
dibutyl phthalate  (ISO)
dichromium trioxide  (EXP)
dicrotophos  (EXP)
diuron  (ISO)
doxorubicin  (EXP,ISO)
ethanol  (ISO)
fenvalerate  (ISO)
fipronil  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
gamma-hexachlorocyclohexane  (ISO)
glafenine  (ISO)
hydrogen peroxide  (EXP)
L-methionine  (ISO)
lead diacetate  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
lipopolysaccharide  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
methapyrilene  (EXP)
methotrexate  (EXP)
methoxychlor  (ISO)
N-ethyl-N-nitrosourea  (ISO)
nickel atom  (EXP,ISO)
p-toluidine  (ISO)
PCB138  (EXP)
pentachlorophenol  (ISO)
phenobarbital  (ISO)
phosgene  (ISO)
pirinixic acid  (ISO)
poly(vinylpyrrolidone)  (ISO)
procymidone  (ISO)
progesterone  (ISO)
propiconazole  (ISO)
resveratrol  (EXP,ISO)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
succimer  (ISO)
sunitinib  (EXP)
tamoxifen  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
triphenyl phosphate  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
venlafaxine hydrochloride  (ISO)
vinclozolin  (ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality of cardiovascular system morphology  (IAGP)
Absent speech  (IAGP)
Accelerated skeletal maturation  (IAGP)
Advanced eruption of teeth  (IAGP)
Agenesis of corpus callosum  (IAGP)
Amblyopia  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Apnea  (IAGP)
Astigmatism  (IAGP)
Atlantoaxial dislocation  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Blue sclerae  (IAGP)
Bowing of the long bones  (IAGP)
Bruising susceptibility  (IAGP)
Bullet-shaped middle phalanges of the hand  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral atrophy  (IAGP)
Choanal atresia  (IAGP)
Choanal stenosis  (IAGP)
Cleft palate  (IAGP)
Clinodactyly  (IAGP)
Conductive hearing impairment  (IAGP)
Constipation  (IAGP)
Coxa valga  (IAGP)
Craniosynostosis  (IAGP)
Cutis marmorata  (IAGP)
Death in childhood  (IAGP)
Decreased body weight  (IAGP)
Deeply set eye  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Dilation of lateral ventricles  (IAGP)
Distal widening of metacarpals  (IAGP)
Downslanted palpebral fissures  (IAGP)
Eclabion  (IAGP)
Epicanthus  (IAGP)
Episodic ataxia  (IAGP)
Episodic vomiting  (IAGP)
Everted lower lip vermilion  (IAGP)
Facial asymmetry  (IAGP)
Failure to thrive  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Feeding difficulties in infancy  (IAGP)
Frontal bossing  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hirsutism  (IAGP)
Generalized hypotonia  (IAGP)
Gingival overgrowth  (IAGP)
Global developmental delay  (IAGP)
Glossoptosis  (IAGP)
Hearing impairment  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Hip dislocation  (IAGP)
Hip dysplasia  (IAGP)
Hip subluxation  (IAGP)
Horizontal nystagmus  (IAGP)
Hyperactivity  (IAGP)
Hypermetropia  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypoplasia of the brainstem  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the odontoid process  (IAGP)
Hypotonia  (IAGP)
Increased susceptibility to fractures  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, severe  (IAGP)
Intrauterine growth retardation  (IAGP)
Inverted nipples  (IAGP)
Irregular dentition  (IAGP)
Irritability  (IAGP)
Joint hyperflexibility  (IAGP)
Kyphoscoliosis  (IAGP)
Large sternal ossification centers  (IAGP)
Laryngomalacia  (IAGP)
Long face  (IAGP)
Long fingers  (IAGP)
Low posterior hairline  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Macrogyria  (IAGP)
Malar flattening  (IAGP)
Mandibular prognathia  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microtia  (IAGP)
Midface retrusion  (IAGP)
Migraine  (IAGP)
Motor delay  (IAGP)
Myopia  (IAGP)
Narrow face  (IAGP)
Narrow mouth  (IAGP)
Neonatal hypotonia  (IAGP)
Nystagmus  (IAGP)
Obstructive sleep apnea  (IAGP)
Omphalocele  (IAGP)
Open mouth  (IAGP)
Optic atrophy  (IAGP)
Optic disc hypoplasia  (IAGP)
Optic disc pallor  (IAGP)
Osteoporosis  (IAGP)
Oval face  (IAGP)
Overfolded helix  (IAGP)
Overgrowth  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus excavatum  (IAGP)
Pes cavus  (IAGP)
Plagiocephaly  (IAGP)
Pointed chin  (IAGP)
Posteriorly rotated ears  (IAGP)
Precocious puberty  (IAGP)
Prominence of the premaxilla  (IAGP)
Prominent forehead  (IAGP)
Prominent nose  (IAGP)
Proptosis  (IAGP)
Protruding tongue  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Recurrent aspiration pneumonia  (IAGP)
Reduced bone mineral density  (IAGP)
Retrognathia  (IAGP)
Scaphocephaly  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Shallow orbits  (IAGP)
Short distal phalanx of finger  (IAGP)
Short mandibular rami  (IAGP)
Short nose  (IAGP)
Short philtrum  (IAGP)
Short sternum  (IAGP)
Slender long bone  (IAGP)
Sloping forehead  (IAGP)
Sporadic  (IAGP)
Strabismus  (IAGP)
Synophrys  (IAGP)
Tall stature  (IAGP)
Telecanthus  (IAGP)
Thick eyebrow  (IAGP)
Thick vermilion border  (IAGP)
Thin skin  (IAGP)
Umbilical hernia  (IAGP)
Underdeveloped nasal alae  (IAGP)
Unilateral cryptorchidism  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
References

Additional References at PubMed
PMID:7590749   PMID:7937100   PMID:8340106   PMID:8799200   PMID:9079676   PMID:9099724   PMID:9380514   PMID:10636857   PMID:11046146   PMID:11068044   PMID:11896613   PMID:12477932  
PMID:12624117   PMID:15057824   PMID:15342556   PMID:16009940   PMID:16565071   PMID:16928756   PMID:18754024   PMID:19274049   PMID:19416921   PMID:19418463   PMID:19706729   PMID:20150379  
PMID:20673863   PMID:21189253   PMID:21873635   PMID:21953450   PMID:22301465   PMID:22422452   PMID:22925353   PMID:23455924   PMID:24924640   PMID:25118028   PMID:25187353   PMID:25220407  
PMID:25416956   PMID:25609649   PMID:26200704   PMID:26653554   PMID:26695693   PMID:26760575   PMID:26871637   PMID:28076901   PMID:28442439   PMID:28473536   PMID:28514442   PMID:28611215  
PMID:28800311   PMID:29117863   PMID:29184170   PMID:29509190   PMID:29844126   PMID:29897170   PMID:29899543   PMID:30264502   PMID:30287093   PMID:30418046   PMID:30581152   PMID:30804502  
PMID:31045890   PMID:31369202   PMID:31888753   PMID:32296183  


Genomics

Comparative Map Data
NFIX
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1912,995,475 - 13,098,796 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1912,995,608 - 13,098,796 (+)EnsemblGRCh38hg38GRCh38
GRCh381912,995,475 - 13,098,796 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371913,106,584 - 13,209,610 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh371913,106,289 - 13,209,610 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361912,967,584 - 13,070,610 (+)NCBINCBI36hg18NCBI36
Build 341912,967,583 - 13,070,610NCBI
Celera1912,996,993 - 13,100,014 (+)NCBI
Cytogenetic Map19p13.13NCBI
HuRef1912,707,303 - 12,782,249 (+)NCBIHuRef
CHM1_11913,107,626 - 13,210,624 (+)NCBICHM1_1
Nfix
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39885,431,341 - 85,527,086 (-)NCBIGRCm39mm39
GRCm38884,704,712 - 84,801,238 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl884,699,876 - 84,800,344 (-)EnsemblGRCm38mm10GRCm38
MGSCv37887,231,498 - 87,324,239 (-)NCBIGRCm37mm9NCBIm37
MGSCv36887,598,719 - 87,690,245 (-)NCBImm8
Celera889,007,669 - 89,082,215 (-)NCBICelera
Cytogenetic Map8C3NCBI
cM Map841.02NCBI
Nfix
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21923,355,388 - 23,450,360 (+)NCBI
Rnor_6.0 Ensembl1925,821,780 - 25,914,696 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01925,818,640 - 25,914,777 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01936,794,504 - 36,890,430 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41925,018,352 - 25,111,367 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11925,023,177 - 25,097,311 (+)NCBI
Celera1922,941,014 - 23,001,968 (+)NCBICelera
Cytogenetic Map19q11NCBI
Nfix
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541532,055,375 - 32,117,833 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541532,055,926 - 32,121,611 (+)NCBIChiLan1.0ChiLan1.0
NFIX
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11913,315,482 - 13,402,406 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1913,327,690 - 13,402,406 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01912,557,020 - 12,660,316 (+)NCBIMhudiblu_PPA_v0panPan3
NFIX
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2049,117,943 - 49,214,788 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12049,117,087 - 49,187,023 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Nfix
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049366592,065,410 - 2,136,898 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NFIX
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl265,954,244 - 66,056,567 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1265,954,808 - 66,056,591 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2266,321,736 - 66,402,215 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NFIX
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1611,705,323 - 11,778,943 (+)NCBI
ChlSab1.1 Ensembl611,706,060 - 11,776,083 (+)Ensembl
Nfix
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624901551,277 - 645,435 (+)NCBI

Position Markers
RH91530  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,205,654 - 13,205,774UniSTSGRCh37
Build 361913,066,654 - 13,066,774RGDNCBI36
Celera1913,096,058 - 13,096,178RGD
Cytogenetic Map19p13.3UniSTS
HuRef1912,778,293 - 12,778,413UniSTS
GeneMap99-GB4 RH Map1971.17UniSTS
RH119419  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,176,243 - 13,176,532UniSTSGRCh37
Build 361913,037,243 - 13,037,532RGDNCBI36
Celera1913,066,649 - 13,066,938RGD
Cytogenetic Map19p13.3UniSTS
HuRef1912,748,886 - 12,749,175UniSTS
TNG Radiation Hybrid Map194471.0UniSTS
RH123975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,144,150 - 13,144,463UniSTSGRCh37
Build 361913,005,150 - 13,005,463RGDNCBI36
Celera1913,034,557 - 13,034,870RGD
Cytogenetic Map19p13.3UniSTS
HuRef1912,716,668 - 12,716,981UniSTS
TNG Radiation Hybrid Map194488.0UniSTS
TNG Radiation Hybrid Map194475.0UniSTS
G49214  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,181,820 - 13,183,166UniSTSGRCh37
Build 361913,042,820 - 13,044,166RGDNCBI36
Celera1913,072,224 - 13,073,570RGD
Cytogenetic Map19p13.3UniSTS
HuRef1912,754,459 - 12,755,805UniSTS
D19S817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,178,238 - 13,178,407UniSTSGRCh37
Build 361913,039,238 - 13,039,407RGDNCBI36
Celera1913,068,644 - 13,068,811RGD
Cytogenetic Map19p13.3UniSTS
HuRef1912,750,881 - 12,751,046UniSTS
STS-N23687  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,139,550 - 13,139,709UniSTSGRCh37
Build 361913,000,550 - 13,000,709RGDNCBI36
Celera1913,029,957 - 13,030,116RGD
Cytogenetic Map19p13.3UniSTS
HuRef1912,712,068 - 12,712,227UniSTS
GeneMap99-GB4 RH Map1973.59UniSTS
RH18298  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,205,748 - 13,205,955UniSTSGRCh37
Build 361913,066,748 - 13,066,955RGDNCBI36
Celera1913,096,152 - 13,096,359RGD
Cytogenetic Map19p13.3UniSTS
HuRef1912,778,387 - 12,778,594UniSTS
GeneMap99-GB4 RH Map1973.9UniSTS
NFIX  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,136,006 - 13,136,250UniSTSGRCh37
Celera1913,026,413 - 13,026,657UniSTS
HuRef1912,708,524 - 12,708,768UniSTS
RH66061  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,124,560 - 13,125,073UniSTSGRCh37
Celera1913,014,967 - 13,015,480UniSTS
Cytogenetic Map19p13.3UniSTS
HuRef1912,697,170 - 12,697,683UniSTS
GeneMap99-GB4 RH Map1971.17UniSTS
NCBI RH Map1987.9UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR223hsa-miR-223-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19850724

Predicted Target Of
Summary Value
Count of predictions:9014
Count of miRNA genes:1145
Interacting mature miRNAs:1460
Transcripts:ENST00000358552, ENST00000360105, ENST00000397661, ENST00000585382, ENST00000585575, ENST00000586797, ENST00000586873, ENST00000587260, ENST00000587760, ENST00000588228, ENST00000588680, ENST00000590027, ENST00000591028, ENST00000592199
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 2362 2220 1414 388 442 229 4168 2083 3646 245 1394 1529 171 1204 2788 1
Low 76 761 308 236 1342 236 46 112 77 170 53 76 4 1 2 2
Below cutoff 1 8 4 160 137 2 11 4 12 6 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005259917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF115883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP228658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ861276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L31881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U07811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U18759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U18760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U18761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000358552   ⟹   ENSP00000351354
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1913,024,580 - 13,098,766 (+)Ensembl
RefSeq Acc Id: ENST00000360105   ⟹   ENSP00000353219
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1913,024,580 - 13,098,796 (+)Ensembl
RefSeq Acc Id: ENST00000397661   ⟹   ENSP00000380781
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,995,608 - 13,096,201 (+)Ensembl
RefSeq Acc Id: ENST00000585382   ⟹   ENSP00000466605
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1913,012,207 - 13,081,835 (+)Ensembl
RefSeq Acc Id: ENST00000585575   ⟹   ENSP00000468794
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1913,024,032 - 13,094,649 (+)Ensembl
RefSeq Acc Id: ENST00000586797   ⟹   ENSP00000467536
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1913,024,585 - 13,094,684 (+)Ensembl
RefSeq Acc Id: ENST00000586873   ⟹   ENSP00000468707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1913,024,627 - 13,025,510 (+)Ensembl
RefSeq Acc Id: ENST00000587260   ⟹   ENSP00000467785
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1913,024,939 - 13,094,770 (+)Ensembl
RefSeq Acc Id: ENST00000587760   ⟹   ENSP00000466389
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1913,023,991 - 13,094,758 (+)Ensembl
RefSeq Acc Id: ENST00000588228   ⟹   ENSP00000466735
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1913,024,581 - 13,094,755 (+)Ensembl
RefSeq Acc Id: ENST00000588680
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1913,070,003 - 13,074,019 (+)Ensembl
RefSeq Acc Id: ENST00000590027   ⟹   ENSP00000465616
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1913,012,188 - 13,025,520 (+)Ensembl
RefSeq Acc Id: ENST00000591028   ⟹   ENSP00000465094
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1913,024,613 - 13,025,495 (+)Ensembl
RefSeq Acc Id: ENST00000592199   ⟹   ENSP00000467512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,995,838 - 13,094,649 (+)Ensembl
RefSeq Acc Id: ENST00000676441   ⟹   ENSP00000502554
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1913,024,581 - 13,094,755 (+)Ensembl
RefSeq Acc Id: NM_001271043   ⟹   NP_001257972
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381913,024,581 - 13,098,796 (+)NCBI
GRCh371913,106,584 - 13,209,610 (+)NCBI
HuRef1912,707,303 - 12,782,249 (+)NCBI
CHM1_11913,136,417 - 13,210,624 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001271044   ⟹   NP_001257973
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381913,023,972 - 13,098,787 (+)NCBI
GRCh371913,106,584 - 13,209,610 (+)NCBI
HuRef1912,707,303 - 12,782,249 (+)NCBI
CHM1_11913,135,807 - 13,210,624 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001365902   ⟹   NP_001352831
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,995,475 - 13,098,796 (+)NCBI
RefSeq Acc Id: NM_001365982   ⟹   NP_001352911
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,995,475 - 13,098,787 (+)NCBI
RefSeq Acc Id: NM_001365983   ⟹   NP_001352912
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381913,024,579 - 13,098,787 (+)NCBI
RefSeq Acc Id: NM_001365984   ⟹   NP_001352913
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381913,024,779 - 13,098,787 (+)NCBI
RefSeq Acc Id: NM_001365985   ⟹   NP_001352914
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381913,024,779 - 13,098,787 (+)NCBI
RefSeq Acc Id: NM_001378404   ⟹   NP_001365333
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381913,023,972 - 13,098,796 (+)NCBI
RefSeq Acc Id: NM_001378405   ⟹   NP_001365334
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381913,024,579 - 13,098,796 (+)NCBI
RefSeq Acc Id: NM_002501   ⟹   NP_002492
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,995,475 - 13,098,787 (+)NCBI
GRCh371913,106,584 - 13,209,610 (+)ENTREZGENE
GRCh371913,106,584 - 13,209,610 (+)NCBI
Build 361912,967,584 - 13,070,610 (+)NCBI Archive
HuRef1912,707,303 - 12,782,249 (+)NCBI
CHM1_11913,107,626 - 13,210,624 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005259917   ⟹   XP_005259974
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381913,024,301 - 13,098,796 (+)NCBI
GRCh371913,106,584 - 13,209,610 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006722760   ⟹   XP_006722823
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381913,024,464 - 13,098,796 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001257972 (Get FASTA)   NCBI Sequence Viewer  
  NP_001257973 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352831 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352911 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352912 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352913 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352914 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365333 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365334 (Get FASTA)   NCBI Sequence Viewer  
  NP_002492 (Get FASTA)   NCBI Sequence Viewer  
  XP_005259974 (Get FASTA)   NCBI Sequence Viewer  
  XP_006722823 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA53422 (Get FASTA)   NCBI Sequence Viewer  
  AAA93126 (Get FASTA)   NCBI Sequence Viewer  
  AAB52369 (Get FASTA)   NCBI Sequence Viewer  
  AAB52370 (Get FASTA)   NCBI Sequence Viewer  
  AAB52371 (Get FASTA)   NCBI Sequence Viewer  
  AAC15752 (Get FASTA)   NCBI Sequence Viewer  
  AAD38240 (Get FASTA)   NCBI Sequence Viewer  
  AAD38241 (Get FASTA)   NCBI Sequence Viewer  
  AAI17114 (Get FASTA)   NCBI Sequence Viewer  
  AAI17116 (Get FASTA)   NCBI Sequence Viewer  
  AAV38537 (Get FASTA)   NCBI Sequence Viewer  
  ACV82593 (Get FASTA)   NCBI Sequence Viewer  
  BAG58274 (Get FASTA)   NCBI Sequence Viewer  
  BAG59737 (Get FASTA)   NCBI Sequence Viewer  
  CAD97845 (Get FASTA)   NCBI Sequence Viewer  
  EAW84338 (Get FASTA)   NCBI Sequence Viewer  
  EAW84339 (Get FASTA)   NCBI Sequence Viewer  
  EAW84340 (Get FASTA)   NCBI Sequence Viewer  
  EAW84341 (Get FASTA)   NCBI Sequence Viewer  
  EAW84342 (Get FASTA)   NCBI Sequence Viewer  
  Q14938 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_002492   ⟸   NM_002501
- Peptide Label: isoform 2
- UniProtKB: Q14938 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001257973   ⟸   NM_001271044
- Peptide Label: isoform 3
- UniProtKB: Q14938 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001257972   ⟸   NM_001271043
- Peptide Label: isoform 1
- UniProtKB: B4DHW2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005259974   ⟸   XM_005259917
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006722823   ⟸   XM_006722760
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001352831   ⟸   NM_001365902
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001352911   ⟸   NM_001365982
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001352912   ⟸   NM_001365983
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001352913   ⟸   NM_001365984
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001352914   ⟸   NM_001365985
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001365333   ⟸   NM_001378404
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001365334   ⟸   NM_001378405
- Peptide Label: isoform 10
RefSeq Acc Id: ENSP00000353219   ⟸   ENST00000360105
RefSeq Acc Id: ENSP00000468794   ⟸   ENST00000585575
RefSeq Acc Id: ENSP00000466605   ⟸   ENST00000585382
RefSeq Acc Id: ENSP00000468707   ⟸   ENST00000586873
RefSeq Acc Id: ENSP00000467536   ⟸   ENST00000586797
RefSeq Acc Id: ENSP00000467785   ⟸   ENST00000587260
RefSeq Acc Id: ENSP00000466389   ⟸   ENST00000587760
RefSeq Acc Id: ENSP00000466735   ⟸   ENST00000588228
RefSeq Acc Id: ENSP00000465616   ⟸   ENST00000590027
RefSeq Acc Id: ENSP00000465094   ⟸   ENST00000591028
RefSeq Acc Id: ENSP00000467512   ⟸   ENST00000592199
RefSeq Acc Id: ENSP00000380781   ⟸   ENST00000397661
RefSeq Acc Id: ENSP00000351354   ⟸   ENST00000358552
RefSeq Acc Id: ENSP00000502554   ⟸   ENST00000676441
Protein Domains
CTF/NF-I

Promoters
RGD ID:6795844
Promoter ID:HG_KWN:29049
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000397661,   NM_002501
Position:
Human AssemblyChrPosition (strand)Source
Build 361912,967,686 - 12,968,186 (+)MPROMDB
RGD ID:6795848
Promoter ID:HG_KWN:29050
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC002MWE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361912,994,841 - 12,995,341 (+)MPROMDB
RGD ID:7238767
Promoter ID:EPDNEW_H25129
Type:initiation region
Name:NFIX_1
Description:nuclear factor I X
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25128  EPDNEW_H25130  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381913,023,994 - 13,024,054EPDNEW
RGD ID:7238773
Promoter ID:EPDNEW_H25130
Type:initiation region
Name:NFIX_2
Description:nuclear factor I X
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25128  EPDNEW_H25129  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381913,025,024 - 13,025,084EPDNEW
RGD ID:6815279
Promoter ID:HG_MRA:7841
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:BC036885
Position:
Human AssemblyChrPosition (strand)Source
Build 361913,067,426 - 13,068,347 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002501.4(NFIX):c.568C>T (p.Gln190Ter) single nucleotide variant Marshall-Smith syndrome [RCV000990161]|Sotos syndrome 2 [RCV000030636] Chr19:13073055 [GRCh38]
Chr19:13183869 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.1009_1010TC[1] (p.Gln338fs) microsatellite Marshall-Smith syndrome [RCV000030637] Chr19:13078665..13078666 [GRCh38]
Chr19:13189479..13189480 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.1003_1007CTCTC[1] (p.Ser337fs) microsatellite Marshall-Smith syndrome [RCV000030639] Chr19:13078659..13078663 [GRCh38]
Chr19:13189473..13189477 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.1243del (p.Ala415fs) deletion Marshall-Smith syndrome [RCV000030641] Chr19:13081843 [GRCh38]
Chr19:13192657 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.955+1G>A single nucleotide variant Marshall-Smith syndrome [RCV000030644] Chr19:13075672 [GRCh38]
Chr19:13186486 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.955+1G>T single nucleotide variant Marshall-Smith syndrome [RCV000030645] Chr19:13075672 [GRCh38]
Chr19:13186486 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.179T>C (p.Leu60Pro) single nucleotide variant Sotos syndrome 2 [RCV000030646] Chr19:13025172 [GRCh38]
Chr19:13135986 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.362G>C (p.Arg121Pro) single nucleotide variant Sotos syndrome 2 [RCV000030647] Chr19:13025355 [GRCh38]
Chr19:13136169 [GRCh37]
Chr19:19p13.13
pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13
likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 copy number gain See cases [RCV000052909] Chr19:10315258..14048994 [GRCh38]
Chr19:10425934..14159806 [GRCh37]
Chr19:10286934..14020806 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3 copy number gain See cases [RCV000052910] Chr19:12132052..14751798 [GRCh38]
Chr19:12242867..14862610 [GRCh37]
Chr19:12103867..14723610 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3 copy number gain See cases [RCV000052911] Chr19:12850595..13290954 [GRCh38]
Chr19:12961409..13401768 [GRCh37]
Chr19:12822409..13262768 [NCBI36]
Chr19:19p13.13
pathogenic
GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3 copy number gain See cases [RCV000054144] Chr19:12813597..13119698 [GRCh38]
Chr19:12924411..13230512 [GRCh37]
Chr19:12785411..13091512 [NCBI36]
Chr19:19p13.13
uncertain significance
GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|See cases [RCV000053944] Chr19:11227942..14532135 [GRCh38]
Chr19:11338618..14642947 [GRCh37]
Chr19:11199618..14503947 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1 copy number loss See cases [RCV000053945] Chr19:11517825..13225287 [GRCh38]
Chr19:11628640..13336101 [GRCh37]
Chr19:11489640..13197101 [NCBI36]
Chr19:19p13.2-13.13
pathogenic
NM_002501.3(NFIX):c.153C>G (p.Asp51Glu) single nucleotide variant Malignant melanoma [RCV000063436] Chr19:13025146 [GRCh38]
Chr19:13135960 [GRCh37]
Chr19:12996960 [NCBI36]
Chr19:19p13.13
not provided
NM_002501.4(NFIX):c.1037dup (p.Thr347fs) duplication Marshall-Smith syndrome [RCV000030638] Chr19:13078691..13078692 [GRCh38]
Chr19:13189505..13189506 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.1049dup (p.Leu351fs) duplication Marshall-Smith syndrome [RCV000030640] Chr19:13078703..13078704 [GRCh38]
Chr19:13189517..13189518 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.994dup (p.Cys332fs) duplication Marshall-Smith syndrome [RCV000030642] Chr19:13078650..13078651 [GRCh38]
Chr19:13189464..13189465 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.959dup (p.Ala321fs) duplication Marshall-Smith syndrome [RCV000030643] Chr19:13078613..13078614 [GRCh38]
Chr19:13189427..13189428 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.716C>G (p.Ser239Ter) single nucleotide variant Sotos syndrome 2 [RCV000077780] Chr19:13073924 [GRCh38]
Chr19:13184738 [GRCh37]
Chr19:19p13.13
pathogenic
Single allele single nucleotide variant not provided [RCV000171488] Chr19:13136006 [GRCh37]
Chr19:19p13.2
likely pathogenic
NM_002501.4(NFIX):c.520G>T (p.Glu174Ter) single nucleotide variant not provided [RCV000171277] Chr19:13025513 [GRCh38]
Chr19:13136327 [GRCh37]
Chr19:19p13.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_002501.4(NFIX):c.1140G>A (p.Ser380=) single nucleotide variant Marshall-Smith syndrome [RCV000558511]|not specified [RCV000180230] Chr19:13081741 [GRCh38]
Chr19:13192555 [GRCh37]
Chr19:19p13.13
benign
NM_002501.4(NFIX):c.361C>T (p.Arg121Cys) single nucleotide variant Inborn genetic diseases [RCV000190740]|Marshall-Smith syndrome [RCV001250542]|Marshall-Smith syndrome [RCV001270871] Chr19:13025354 [GRCh38]
Chr19:13136168 [GRCh37]
Chr19:19p13.13
pathogenic|likely 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
GRCh38/hg38 19p13.13(chr19:13034666-13283686)x1 copy number loss See cases [RCV000135352] Chr19:13034666..13283686 [GRCh38]
Chr19:13145480..13394500 [GRCh37]
Chr19:13006480..13255500 [NCBI36]
Chr19:19p13.13
pathogenic
GRCh38/hg38 19p13.13(chr19:12978943-13236134)x3 copy number gain See cases [RCV000136559] Chr19:12978943..13236134 [GRCh38]
Chr19:13089757..13346948 [GRCh37]
Chr19:12950757..13207948 [NCBI36]
Chr19:19p13.13
likely pathogenic|uncertain significance
GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1 copy number loss See cases [RCV000135937] Chr19:12580427..14742673 [GRCh38]
Chr19:12691241..14853485 [GRCh37]
Chr19:12552241..14714485 [NCBI36]
Chr19:19p13.2-13.12
pathogenic|likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1 copy number loss See cases [RCV000136909] Chr19:11525163..14155021 [GRCh38]
Chr19:11635978..14265833 [GRCh37]
Chr19:11496978..14126833 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.13(chr19:12974394-13408586)x1 copy number loss See cases [RCV000138197] Chr19:12974394..13408586 [GRCh38]
Chr19:13085208..13519400 [GRCh37]
Chr19:12946208..13380400 [NCBI36]
Chr19:19p13.13
pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 copy number loss See cases [RCV000141568] Chr19:10319474..13777860 [GRCh38]
Chr19:10430150..13888674 [GRCh37]
Chr19:10291150..13749674 [NCBI36]
Chr19:19p13.2-13.13
pathogenic
NM_002501.4(NFIX):c.876C>A (p.Asp292Glu) single nucleotide variant not specified [RCV000193585] Chr19:13075592 [GRCh38]
Chr19:13186406 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_002501.4(NFIX):c.338_342dup (p.Arg116fs) duplication Sotos syndrome 2 [RCV000191110] Chr19:13025330..13025331 [GRCh38]
Chr19:13136144..13136145 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.1080_1096del (p.Ser361fs) deletion Marshall-Smith syndrome [RCV000192696] Chr19:13081680..13081696 [GRCh38]
Chr19:13192494..13192510 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.970_971del (p.Lys324fs) deletion Marshall-Smith syndrome [RCV000194821] Chr19:13078626..13078627 [GRCh38]
Chr19:13189440..13189441 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.950_954del (p.Asp317fs) deletion not provided [RCV000255435] Chr19:13075666..13075670 [GRCh38]
Chr19:13186480..13186484 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.337A>G (p.Lys113Glu) single nucleotide variant Marfanoid habitus and intellectual disability [RCV000850427]|Sotos syndrome 2 [RCV000677674] Chr19:13025330 [GRCh38]
Chr19:13136144 [GRCh37]
Chr19:19p13.13
likely pathogenic
NC_000019.9:g.(?_13106632)_(13428155_?)del deletion Marshall-Smith syndrome [RCV000543828] Chr19:13106632..13428155 [GRCh37]
Chr19:19p13.2
pathogenic
NM_002501.4(NFIX):c.143T>A (p.Met48Lys) single nucleotide variant Sotos syndrome 2 [RCV001263215]|not provided [RCV000519161] Chr19:13025136 [GRCh38]
Chr19:13135950 [GRCh37]
Chr19:19p13.13
likely pathogenic|uncertain significance
NM_002501.4(NFIX):c.666G>A (p.Trp222Ter) single nucleotide variant not provided [RCV000292746] Chr19:13073465 [GRCh38]
Chr19:13184279 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.1087dup (p.Arg363fs) duplication not provided [RCV000353243] Chr19:13081683..13081684 [GRCh38]
Chr19:13192497..13192498 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.637C>T (p.Gln213Ter) single nucleotide variant not provided [RCV000360650] Chr19:13073436 [GRCh38]
Chr19:13184250 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.303del (p.Cys102fs) deletion not provided [RCV000374170] Chr19:13025291 [GRCh38]
Chr19:13136105 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.905del (p.Pro302fs) deletion not provided [RCV000401893] Chr19:13075618 [GRCh38]
Chr19:13186432 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.1116dup (p.Ser373fs) duplication not provided [RCV000402018] Chr19:13081713..13081714 [GRCh38]
Chr19:13192527..13192528 [GRCh37]
Chr19:19p13.13
pathogenic
NM_001271043.2(NFIX):c.1104delG deletion not provided [RCV000489396] Chr19:13081679 [GRCh38]
Chr19:13192493 [GRCh37]
Chr19:19p13.13
pathogenic
GRCh37/hg19 19p13.2(chr19:13135448-13136366)x2 copy number loss not provided [RCV000585332] Chr19:13135448..13136366 [GRCh37]
Chr19:19p13.2
likely pathogenic
NM_002501.4(NFIX):c.1180del (p.His394fs) deletion Inborn genetic diseases [RCV000624653] Chr19:13081780 [GRCh38]
Chr19:13192594 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.553A>G (p.Thr185Ala) single nucleotide variant not provided [RCV000522941] Chr19:13025546 [GRCh38]
Chr19:13136360 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_002501.4(NFIX):c.324dup (p.Asp109fs) duplication not provided [RCV000599288] Chr19:13025313..13025314 [GRCh38]
Chr19:13136127..13136128 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.671_672delinsCT (p.Val224Ala) indel not provided [RCV000599542] Chr19:13073470..13073471 [GRCh38]
Chr19:13184284..13184285 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_002501.4(NFIX):c.772C>T (p.Gln258Ter) single nucleotide variant not provided [RCV000599594] Chr19:13073980 [GRCh38]
Chr19:13184794 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.467G>C (p.Cys156Ser) single nucleotide variant Sotos syndrome 2 [RCV000590929] Chr19:13025460 [GRCh38]
Chr19:13136274 [GRCh37]
Chr19:19p13.13
likely pathogenic
GRCh37/hg19 19p13.2(chr19:13135448-13136366)x1 copy number loss not provided [RCV000585508] Chr19:13135448..13136366 [GRCh37]
Chr19:19p13.2
likely pathogenic
NM_002501.4(NFIX):c.559+1G>A single nucleotide variant not provided [RCV000413514] Chr19:13025553 [GRCh38]
Chr19:13136367 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.488T>G (p.Val163Gly) single nucleotide variant not provided [RCV000413589] Chr19:13025481 [GRCh38]
Chr19:13136295 [GRCh37]
Chr19:19p13.13
likely pathogenic
GRCh37/hg19 19p13.2(chr19:13180583-13319148)x3 copy number gain See cases [RCV000449427] Chr19:13180583..13319148 [GRCh37]
Chr19:19p13.2
likely pathogenic
GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1 copy number loss See cases [RCV000449161] Chr19:12204632..13497073 [GRCh37]
Chr19:19p13.2
pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) copy number gain See cases [RCV000446985] Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12
pathogenic
NM_002501.4(NFIX):c.819-16T>C single nucleotide variant not specified [RCV000417925] Chr19:13075519 [GRCh38]
Chr19:13186333 [GRCh37]
Chr19:19p13.13
likely benign
NM_002501.4(NFIX):c.1088G>A (p.Arg363Gln) single nucleotide variant not provided [RCV000421141] Chr19:13081689 [GRCh38]
Chr19:13192503 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_002501.4(NFIX):c.183G>A (p.Leu61=) single nucleotide variant Marshall-Smith syndrome [RCV000536835]|not specified [RCV000425767] Chr19:13025176 [GRCh38]
Chr19:13135990 [GRCh37]
Chr19:19p13.13
likely benign
NM_002501.4(NFIX):c.186C>G (p.Gly62=) single nucleotide variant not specified [RCV000437022] Chr19:13025179 [GRCh38]
Chr19:13135993 [GRCh37]
Chr19:19p13.13
likely benign
NM_002501.4(NFIX):c.1255-15C>T single nucleotide variant not specified [RCV000430814] Chr19:13090284 [GRCh38]
Chr19:13201098 [GRCh37]
Chr19:19p13.13
likely benign
NM_002501.4(NFIX):c.698-12C>T single nucleotide variant not specified [RCV000444700] Chr19:13073894 [GRCh38]
Chr19:13184708 [GRCh37]
Chr19:19p13.13
likely benign
NM_002501.4(NFIX):c.267_268delinsC (p.Glu89fs) indel not provided [RCV000480113] Chr19:13025260..13025261 [GRCh38]
Chr19:13136074..13136075 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.73del (p.Ala25fs) deletion Sotos syndrome 2 [RCV000496183] Chr19:13025066 [GRCh38]
Chr19:13135880 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.927dup (p.Ser310fs) duplication Marshall-Smith syndrome [RCV000503907] Chr19:13075641..13075642 [GRCh38]
Chr19:13186455..13186456 [GRCh37]
Chr19:19p13.13
pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1 copy number loss See cases [RCV000511130] Chr19:12574343..14726197 [GRCh37]
Chr19:19p13.2-13.12
pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3 copy number gain See cases [RCV000511013] Chr19:11608072..14543046 [GRCh37]
Chr19:19p13.2-13.12
uncertain significance
NM_001365902.3(NFIX):c.1139C>T (p.Ser380Leu) single nucleotide variant Marshall-Smith syndrome [RCV001195981] Chr19:13081740 [GRCh38]
Chr19:13192554 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_002501.4(NFIX):c.220C>G (p.Arg74Gly) single nucleotide variant Inborn genetic diseases [RCV000624695] Chr19:13025213 [GRCh38]
Chr19:13136027 [GRCh37]
Chr19:19p13.13
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_002501.4(NFIX):c.154G>T (p.Glu52Ter) single nucleotide variant not provided [RCV000585476] Chr19:13025147 [GRCh38]
Chr19:13135961 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_002501.4(NFIX):c.358del (p.Leu120fs) deletion Marshall-Smith syndrome [RCV000650505] Chr19:13025350 [GRCh38]
Chr19:13136164 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.113_114delinsTT (p.Arg38Leu) indel not provided [RCV000658443] Chr19:13025106..13025107 [GRCh38]
Chr19:13135920..13135921 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_002501.4(NFIX):c.326A>C (p.Asp109Ala) single nucleotide variant not provided [RCV000658249] Chr19:13025319 [GRCh38]
Chr19:13136133 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_002501.4(NFIX):c.416G>A (p.Gly139Glu) single nucleotide variant Marshall-Smith syndrome [RCV000677236] Chr19:13025409 [GRCh38]
Chr19:13136223 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.787C>T (p.Arg263Trp) single nucleotide variant not provided [RCV000702379] Chr19:13073995 [GRCh38]
Chr19:13184809 [GRCh37]
Chr19:19p13.13
likely benign|uncertain significance
NM_002501.4(NFIX):c.988G>A (p.Asp330Asn) single nucleotide variant Marshall-Smith syndrome [RCV000685480] Chr19:13078645 [GRCh38]
Chr19:13189459 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_002501.4(NFIX):c.955+2T>C single nucleotide variant Marshall-Smith syndrome [RCV000704861] Chr19:13075673 [GRCh38]
Chr19:13186487 [GRCh37]
Chr19:19p13.13
likely pathogenic
NC_000019.10:g.(?_13075535)_(13078735_?)del deletion Marshall-Smith syndrome [RCV000707751] Chr19:13075535..13078735 [GRCh38]
Chr19:13186349..13189549 [GRCh37]
Chr19:19p13.13
pathogenic
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_002501.4(NFIX):c.834del (p.Lys279fs) deletion Marshall-Smith syndrome [RCV000761317] Chr19:13075547 [GRCh38]
Chr19:13186361 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_002501.4(NFIX):c.28-391G>C single nucleotide variant not provided [RCV000761990] Chr19:13024630 [GRCh38]
Chr19:13135444 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_002501.4(NFIX):c.136A>T (p.Lys46Ter) single nucleotide variant Marshall-Smith syndrome [RCV000760224] Chr19:13025129 [GRCh38]
Chr19:13135943 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.1308del (p.Thr438fs) deletion Marshall-Smith syndrome [RCV001072120] Chr19:13090349 [GRCh38]
Chr19:13201163 [GRCh37]
Chr19:19p13.13
pathogenic
NM_001365902.3(NFIX):c.818+561_956-804del deletion Marshall-Smith syndrome [RCV001072122] Chr19:13074582..13077804 [GRCh38]
Chr19:13185396..13188618 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.1017C>A (p.Gly339=) single nucleotide variant not provided [RCV000905956] Chr19:13078674 [GRCh38]
Chr19:13189488 [GRCh37]
Chr19:19p13.13
likely benign
NM_002501.4(NFIX):c.1143C>T (p.Ser381=) single nucleotide variant Marshall-Smith syndrome [RCV000878634] Chr19:13081744 [GRCh38]
Chr19:13192558 [GRCh37]
Chr19:19p13.13
likely benign
NM_002501.4(NFIX):c.117G>A (p.Lys39=) single nucleotide variant Marshall-Smith syndrome [RCV000878790] Chr19:13025110 [GRCh38]
Chr19:13135924 [GRCh37]
Chr19:19p13.13
likely benign
NM_002501.4(NFIX):c.1161G>A (p.Pro387=) single nucleotide variant not provided [RCV000898952] Chr19:13081762 [GRCh38]
Chr19:13192576 [GRCh37]
Chr19:19p13.13
likely benign
NM_002501.4(NFIX):c.28-376A>T single nucleotide variant not provided [RCV000983002] Chr19:13024645 [GRCh38]
Chr19:13135459 [GRCh37]
Chr19:19p13.13
likely benign
NM_002501.4(NFIX):c.1236G>A (p.Ser412=) single nucleotide variant Marshall-Smith syndrome [RCV000946246] Chr19:13081837 [GRCh38]
Chr19:13192651 [GRCh37]
Chr19:19p13.13
benign
NC_000019.10:g.(?_13087969)_(13094669_?)del deletion Marshall-Smith syndrome [RCV001033644] Chr19:13198783..13205483 [GRCh37]
Chr19:19p13.2
pathogenic
NM_002501.4(NFIX):c.440G>A (p.Gly147Glu) single nucleotide variant Laryngomalacia [RCV000770997] Chr19:13025433 [GRCh38]
Chr19:13136247 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_002501.4(NFIX):c.309C>T (p.Cys103=) single nucleotide variant not provided [RCV000939659] Chr19:13025302 [GRCh38]
Chr19:13136116 [GRCh37]
Chr19:19p13.13
likely benign
NM_002501.4(NFIX):c.636C>T (p.Phe212=) single nucleotide variant not provided [RCV000925161] Chr19:13073435 [GRCh38]
Chr19:13184249 [GRCh37]
Chr19:19p13.13
likely benign
NM_002501.4(NFIX):c.348G>C (p.Arg116=) single nucleotide variant not provided [RCV000915639] Chr19:13025341 [GRCh38]
Chr19:13136155 [GRCh37]
Chr19:19p13.13
likely benign
NM_002501.4(NFIX):c.222G>A (p.Arg74=) single nucleotide variant not provided [RCV000982443] Chr19:13025215 [GRCh38]
Chr19:13136029 [GRCh37]
Chr19:19p13.13
likely benign
NM_002501.4(NFIX):c.138G>A (p.Lys46=) single nucleotide variant not provided [RCV000930410] Chr19:13025131 [GRCh38]
Chr19:13135945 [GRCh37]
Chr19:19p13.13
likely benign
NM_002501.4(NFIX):c.303dup (p.Cys102fs) duplication Marshall-Smith syndrome [RCV000810600] Chr19:13025290..13025291 [GRCh38]
Chr19:13136104..13136105 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.560-91C>T single nucleotide variant not provided [RCV000832286] Chr19:13072956 [GRCh38]
Chr19:13183770 [GRCh37]
Chr19:19p13.13
likely benign
NC_000019.9:g.(?_13186329)_(13189569_?)dup duplication Marshall-Smith syndrome [RCV000823261] Chr19:13075515..13078755 [GRCh38]
Chr19:13186329..13189569 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.48C>T (p.Ile16=) single nucleotide variant not provided [RCV000936570] Chr19:13025041 [GRCh38]
Chr19:13135855 [GRCh37]
Chr19:19p13.13
likely benign
NM_002501.4(NFIX):c.28-638T>C single nucleotide variant not provided [RCV000836981] Chr19:13024383 [GRCh38]
Chr19:13135197 [GRCh37]
Chr19:19p13.13
benign
NM_002501.4(NFIX):c.1260G>A (p.Ser420=) single nucleotide variant not provided [RCV000827369] Chr19:13090304 [GRCh38]
Chr19:13201118 [GRCh37]
Chr19:19p13.13
likely benign
NM_002501.4(NFIX):c.27+113C>T single nucleotide variant not provided [RCV000837053] Chr19:12995977 [GRCh38]
Chr19:13106791 [GRCh37]
Chr19:19p13.13
likely benign
NM_002501.4(NFIX):c.955+39C>T single nucleotide variant not provided [RCV000829941] Chr19:13075710 [GRCh38]
Chr19:13186524 [GRCh37]
Chr19:19p13.13
benign
NM_002501.4(NFIX):c.232A>T (p.Lys78Ter) single nucleotide variant Marshall-Smith syndrome [RCV000791914] Chr19:13025225 [GRCh38]
Chr19:13136039 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.28-1334A>T single nucleotide variant not provided [RCV000832854] Chr19:13023687 [GRCh38]
Chr19:13134501 [GRCh37]
Chr19:19p13.13
likely benign
NM_002501.4(NFIX):c.143T>C (p.Met48Thr) single nucleotide variant Marshall-Smith syndrome [RCV000808961] Chr19:13025136 [GRCh38]
Chr19:13135950 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_002501.4(NFIX):c.344G>A (p.Arg115Gln) single nucleotide variant Marfanoid habitus and intellectual disability [RCV000850473] Chr19:13025337 [GRCh38]
Chr19:13136151 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_001365902.3(NFIX):c.84C>A (p.Tyr28Ter) single nucleotide variant not provided [RCV001091775] Chr19:13025077 [GRCh38]
Chr19:13135891 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.43_49dup (p.Glu17fs) duplication Marshall-Smith syndrome [RCV000818364] Chr19:13025033..13025034 [GRCh38]
Chr19:13135847..13135848 [GRCh37]
Chr19:19p13.13
pathogenic
GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1 copy number loss not provided [RCV000846538] Chr19:12354642..13424014 [GRCh37]
Chr19:19p13.2
pathogenic
GRCh37/hg19 19p13.2(chr19:13135810-13136366)x1 copy number loss not provided [RCV000997022] Chr19:13135810..13136366 [GRCh37]
Chr19:19p13.2
likely pathogenic
NM_002501.4(NFIX):c.28-891dup duplication Marshall-Smith syndrome [RCV000990159] Chr19:13024113..13024114 [GRCh38]
Chr19:13134927..13134928 [GRCh37]
Chr19:19p13.13
likely benign
NM_002501.4(NFIX):c.327_340del (p.Gln110fs) deletion Marshall-Smith syndrome [RCV000990160] Chr19:13025318..13025331 [GRCh38]
Chr19:13136132..13136145 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.799_812del (p.Thr267fs) deletion Marshall-Smith syndrome [RCV000990162] Chr19:13074005..13074018 [GRCh38]
Chr19:13184819..13184832 [GRCh37]
Chr19:19p13.13
pathogenic
NM_001365902.3(NFIX):c.424dup (p.Leu142fs) duplication not provided [RCV001009130] Chr19:13025412..13025413 [GRCh38]
Chr19:13136226..13136227 [GRCh37]
Chr19:19p13.13
pathogenic
NM_001365902.3(NFIX):c.1013_1014del (p.Gln338fs) deletion not provided [RCV001008270] Chr19:13078670..13078671 [GRCh38]
Chr19:13189484..13189485 [GRCh37]
Chr19:19p13.13
pathogenic
NM_001365902.3(NFIX):c.818+5G>A single nucleotide variant Marshall-Smith syndrome [RCV001222486] Chr19:13074031 [GRCh38]
Chr19:13184845 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_002501.4(NFIX):c.933_943del (p.Trp312fs) deletion Marshall-Smith syndrome [RCV000853379] Chr19:13075648..13075658 [GRCh38]
Chr19:13186462..13186472 [GRCh37]
Chr19:19p13.13
pathogenic
NM_001365902.3(NFIX):c.1204dup (p.Glu402fs) duplication not provided [RCV001009203] Chr19:13081803..13081804 [GRCh38]
Chr19:13192617..13192618 [GRCh37]
Chr19:19p13.13
pathogenic
NM_001365902.3(NFIX):c.1449del (p.Ile483fs) deletion Marshall-Smith syndrome [RCV001198775] Chr19:13090345 [GRCh38]
Chr19:13201159 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_001365902.3(NFIX):c.442G>T (p.Glu148Ter) single nucleotide variant not provided [RCV001091776] Chr19:13025435 [GRCh38]
Chr19:13136249 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.1018A>G (p.Ser340Gly) single nucleotide variant not provided [RCV000927477] Chr19:13078675 [GRCh38]
Chr19:13189489 [GRCh37]
Chr19:19p13.13
benign
NM_002501.4(NFIX):c.1131_1137dup (p.Ser380fs) duplication Marshall-Smith syndrome [RCV000853419] Chr19:13081731..13081732 [GRCh38]
Chr19:13192545..13192546 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.628T>C (p.Leu210=) single nucleotide variant not provided [RCV000907934] Chr19:13073427 [GRCh38]
Chr19:13184241 [GRCh37]
Chr19:19p13.13
likely benign
NM_002501.4(NFIX):c.560-6C>T single nucleotide variant not provided [RCV000959408] Chr19:13073041 [GRCh38]
Chr19:13183855 [GRCh37]
Chr19:19p13.13
likely benign
NM_002501.4(NFIX):c.252G>T (p.Arg84=) single nucleotide variant Marshall-Smith syndrome [RCV000950551] Chr19:13025245 [GRCh38]
Chr19:13136059 [GRCh37]
Chr19:19p13.13
likely benign
NM_002501.4(NFIX):c.600G>A (p.Ala200=) single nucleotide variant Marshall-Smith syndrome [RCV000964769] Chr19:13073087 [GRCh38]
Chr19:13183901 [GRCh37]
Chr19:19p13.13
likely benign
NM_001365902.3(NFIX):c.77del (p.Phe26fs) deletion Marshall-Smith syndrome [RCV001199203] Chr19:13025068 [GRCh38]
Chr19:13135882 [GRCh37]
Chr19:19p13.13
pathogenic
NM_001365902.3(NFIX):c.1247C>G (p.Thr416Ser) single nucleotide variant Marshall-Smith syndrome [RCV001240287] Chr19:13081848 [GRCh38]
Chr19:13192662 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_001365902.3(NFIX):c.60_75dup (p.Phe26fs) duplication Marshall-Smith syndrome [RCV001044662] Chr19:13025049..13025050 [GRCh38]
Chr19:13135863..13135864 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.772del (p.Gln258fs) deletion Sotos syndrome 2 [RCV001193079] Chr19:13073979 [GRCh38]
Chr19:13184793 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_002501.4(NFIX):c.357C>T (p.Cys119=) single nucleotide variant not provided [RCV000913603] Chr19:13025350 [GRCh38]
Chr19:13136164 [GRCh37]
Chr19:19p13.13
likely benign
NM_002501.4(NFIX):c.1248C>G (p.Thr416=) single nucleotide variant not provided [RCV000933861] Chr19:13081849 [GRCh38]
Chr19:13192663 [GRCh37]
Chr19:19p13.13
likely benign
NM_001365902.3(NFIX):c.179dup (p.Leu61fs) duplication not provided [RCV001008864] Chr19:13025171..13025172 [GRCh38]
Chr19:13135985..13135986 [GRCh37]
Chr19:19p13.13
pathogenic
NM_002501.4(NFIX):c.818+1G>A single nucleotide variant Sotos syndrome 2 [RCV001193080] Chr19:13074027 [GRCh38]
Chr19:13184841 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_001365902.3(NFIX):c.187G>T (p.Glu63Ter) single nucleotide variant Sotos syndrome 2 [RCV001253218] Chr19:13025180 [GRCh38]
Chr19:13135994 [GRCh37]
Chr19:19p13.13
pathogenic
NM_001365902.3(NFIX):c.1423T>C (p.Ser475Pro) single nucleotide variant Marshall-Smith syndrome [RCV001068760] Chr19:13090319 [GRCh38]
Chr19:13201133 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_001365902.3(NFIX):c.113G>T (p.Arg38Leu) single nucleotide variant Marshall-Smith syndrome [RCV001046374] Chr19:13025106 [GRCh38]
Chr19:13135920 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_001365902.3(NFIX):c.819-484_1079-700del deletion Marshall-Smith syndrome [RCV001072121] Chr19:13075028..13080957 [GRCh38]
Chr19:13185842..13191771 [GRCh37]
Chr19:19p13.13
pathogenic
NM_001365902.3(NFIX):c.1188del (p.Gln397fs) deletion not provided [RCV001091777] Chr19:13081787 [GRCh38]
Chr19:13192601 [GRCh37]
Chr19:19p13.13
pathogenic
NM_001365902.3(NFIX):c.1235C>T (p.Ser412Leu) single nucleotide variant Intellectual disability [RCV001251844]|Marshall-Smith syndrome [RCV001034367] Chr19:13081836 [GRCh38]
Chr19:13192650 [GRCh37]
Chr19:19p13.13
likely benign
NM_001365902.3(NFIX):c.316T>C (p.Ser106Pro) single nucleotide variant Intellectual disability [RCV001257605] Chr19:13025309 [GRCh38]
Chr19:13136123 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_001365902.3(NFIX):c.113G>A (p.Arg38His) single nucleotide variant Sotos syndrome 2 [RCV001254040] Chr19:13025106 [GRCh38]
Chr19:13135920 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_001365902.3(NFIX):c.623-2A>T single nucleotide variant not provided [RCV001267976] Chr19:13073420 [GRCh38]
Chr19:13184234 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_001365902.3(NFIX):c.477dup (p.Gly160fs) duplication Intellectual disability [RCV001257606] Chr19:13025466..13025467 [GRCh38]
Chr19:13136280..13136281 [GRCh37]
Chr19:19p13.13
likely pathogenic
NM_001365902.3(NFIX):c.220del (p.Arg74fs) deletion Sotos syndrome 2 [RCV001262356] Chr19:13025211 [GRCh38]
Chr19:13136025 [GRCh37]
Chr19:19p13.13
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7788 AgrOrtholog
COSMIC NFIX COSMIC
Ensembl Genes ENSG00000008441 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000351354 UniProtKB/TrEMBL
  ENSP00000353219 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000380781 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000465094 UniProtKB/TrEMBL
  ENSP00000465616 UniProtKB/TrEMBL
  ENSP00000466389 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000466605 UniProtKB/TrEMBL
  ENSP00000466735 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000467512 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000467536 UniProtKB/TrEMBL
  ENSP00000467785 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000468707 UniProtKB/TrEMBL
  ENSP00000468794 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000502554 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000358552 UniProtKB/TrEMBL
  ENST00000360105 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000397661 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000585382 UniProtKB/TrEMBL
  ENST00000585575 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000586797 UniProtKB/TrEMBL
  ENST00000586873 UniProtKB/TrEMBL
  ENST00000587260 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000587760 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000588228 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000590027 UniProtKB/TrEMBL
  ENST00000591028 UniProtKB/TrEMBL
  ENST00000592199 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000676441 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000008441 GTEx
HGNC ID HGNC:7788 ENTREZGENE
Human Proteome Map NFIX 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:4784 UniProtKB/Swiss-Prot
NCBI Gene 4784 ENTREZGENE
OMIM 164005 OMIM
  602535 OMIM
  614753 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 PA31594 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 B4DHW2 ENTREZGENE, UniProtKB/TrEMBL
  C9JWJ8_HUMAN UniProtKB/TrEMBL
  K7EJB0_HUMAN UniProtKB/TrEMBL
  K7EKH0_HUMAN UniProtKB/TrEMBL
  K7EMQ5_HUMAN UniProtKB/TrEMBL
  K7EN08_HUMAN UniProtKB/TrEMBL
  K7EPU2_HUMAN UniProtKB/TrEMBL
  K7ESG9_HUMAN UniProtKB/TrEMBL
  NFIX_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B4DM25 UniProtKB/Swiss-Prot
  O60413 UniProtKB/Swiss-Prot
  Q0VG09 UniProtKB/Swiss-Prot
  Q12859 UniProtKB/Swiss-Prot
  Q13050 UniProtKB/Swiss-Prot
  Q13052 UniProtKB/Swiss-Prot
  Q5U094 UniProtKB/Swiss-Prot
  Q9UPH1 UniProtKB/Swiss-Prot
  Q9Y6R8 UniProtKB/Swiss-Prot
  X6R5U1 UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 NFIX  nuclear factor I X    nuclear factor I/X (CCAAT-binding transcription factor)  Symbol and/or name change 5135510 APPROVED
2012-09-19 NFIX  nuclear factor I/X (CCAAT-binding transcription factor)  NFIX  nuclear factor I/X (CCAAT-binding transcription factor)  Symbol and/or name change 5135510 APPROVED