MSX1 (msh homeobox 1) - Rat Genome Database

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Gene: MSX1 (msh homeobox 1) Homo sapiens
Analyze
Symbol: MSX1
Name: msh homeobox 1
RGD ID: 731562
HGNC Page HGNC:7391
Description: Enables p53 binding activity and sequence-specific double-stranded DNA binding activity. Involved in several processes, including embryonic nail plate morphogenesis; face morphogenesis; and protein stabilization. Located in nucleoplasm. Implicated in cleft lip; cleft palate; orofacial cleft 5; tooth and nail syndrome; and tooth disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ECTD3; homeo box, msh-like 1; homeobox 7; homeobox protein Hox-7; homeobox protein MSX-1; HOX7; HYD1; msh homeo box 1; msh homeobox 1-like protein; msh homeobox homolog 1; STHAG1
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
GRCh3844,859,665 - 4,863,936 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl44,859,665 - 4,863,936 (+)EnsemblGRCh38hg38GRCh38
GRCh3744,861,392 - 4,865,663 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3644,912,293 - 4,916,564 (+)NCBINCBI36hg18NCBI36
Build 3444,979,477 - 4,983,530NCBI
Celera44,758,413 - 4,762,671 (+)NCBI
Cytogenetic Map4p16.2NCBI
HuRef44,797,648 - 4,801,917 (+)NCBIHuRef
CHM1_144,859,330 - 4,863,591 (+)NCBICHM1_1
T2T-CHM13v2.044,829,290 - 4,833,545 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (ISO)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cannabidiol  (EXP)
carbamazepine  (EXP)
choline  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
cyproconazole  (ISO)
cytarabine  (EXP)
DDT  (ISO)
dimethylarsinous acid  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
flavonoids  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
glycidol  (ISO)
hexaconazole  (ISO)
L-methionine  (ISO)
Licochalcone B  (EXP)
mercury dibromide  (EXP)
nicotine  (ISO)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paracetamol  (EXP)
phenobarbital  (EXP)
phenylmercury acetate  (EXP)
quercetin  (EXP,ISO)
retinyl acetate  (ISO)
SB 431542  (EXP)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sulindac sulfide  (EXP)
temozolomide  (EXP)
thioacetamide  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vorinostat  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of meiosis  (IEA,ISO)
anterior/posterior pattern specification  (IEA,ISO)
BMP signaling pathway  (IEA,ISO)
BMP signaling pathway involved in heart development  (IEA,ISO)
bone morphogenesis  (IEA,ISO)
cardiac conduction system development  (NAS)
cartilage development  (ISO)
cartilage morphogenesis  (IEA,ISO)
cell morphogenesis  (IDA)
cellular response to nicotine  (ISO)
embryonic digit morphogenesis  (IEA,ISO)
embryonic forelimb morphogenesis  (IEA,ISO)
embryonic hindlimb morphogenesis  (IEA,ISO)
embryonic limb morphogenesis  (IEA,ISO)
embryonic morphogenesis  (IBA)
embryonic nail plate morphogenesis  (IEA,IMP,ISO)
epithelial to mesenchymal transition  (IEA)
epithelial to mesenchymal transition involved in endocardial cushion formation  (IEA,ISO)
face morphogenesis  (IEA,IMP,ISO)
forebrain development  (IEA,ISO)
heart development  (IEA,ISO)
heart morphogenesis  (IEA,ISO)
in utero embryonic development  (IEA,ISO)
mammary gland epithelium development  (IEA,ISO)
mesenchymal cell apoptotic process  (IEA,ISO)
mesenchymal cell proliferation  (IEA)
midbrain development  (IEA,ISO)
middle ear morphogenesis  (IEA,ISO)
muscle organ development  (IEA,ISO)
negative regulation of apoptotic process  (IEA,ISO)
negative regulation of cell growth  (IDA)
negative regulation of cell population proliferation  (IEA,ISO)
negative regulation of DNA binding  (IEA,ISO)
negative regulation of DNA-templated transcription  (IEA,ISO)
negative regulation of striated muscle cell differentiation  (IEA,ISO)
negative regulation of transcription by RNA polymerase II  (IEA,ISO)
negative regulation of transcription regulatory region DNA binding  (IEA,ISO)
odontogenesis  (IEA,ISO)
odontogenesis of dentin-containing tooth  (IEA,IMP)
pituitary gland development  (ISO)
positive regulation of BMP signaling pathway  (IEA,ISO)
positive regulation of DNA damage response, signal transduction by p53 class mediator  (IC)
positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator  (IDA)
positive regulation of mesenchymal cell apoptotic process  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IEA,ISO)
protein localization to nucleus  (IDA)
protein stabilization  (IDA)
regulation of DNA-templated transcription  (IEA)
regulation of odontogenesis  (IEA,ISO)
regulation of transcription by RNA polymerase II  (IBA,IEA)
roof of mouth development  (IEA,ISO)
signal transduction involved in regulation of gene expression  (IEA,ISO)
stem cell differentiation  (IEA,ISO)
transcription by RNA polymerase II  (IEA,ISO)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal Eustachian tube morphology  (IAGP)
Abnormal nasal morphology  (IAGP)
Abnormal number of permanent teeth  (IAGP)
Abnormal pattern of respiration  (IAGP)
Abnormality of canine  (IAGP)
Abnormality of dental eruption  (IAGP)
Abnormality of masticatory muscle  (IAGP)
Abnormality of primary molar morphology  (IAGP)
Abnormality of the nasal septum  (IAGP)
Agenesis of central incisor  (IAGP)
Agenesis of first permanent molar tooth  (IAGP)
Agenesis of lateral incisor  (IAGP)
Agenesis of mandibular premolar  (IAGP)
Agenesis of maxillary lateral incisor  (IAGP)
Agenesis of permanent teeth  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral cleft lip  (IAGP)
Bilateral cleft palate  (IAGP)
Chronic otitis media  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Concave nail  (IAGP)
Conductive hearing impairment  (IAGP)
Conical tooth  (IAGP)
Craniosynostosis  (IAGP)
Delayed eruption of permanent teeth  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed speech and language development  (IAGP)
Dental malocclusion  (IAGP)
Disturbance of facial expression  (IAGP)
Dysphagia  (IAGP)
Eclabion  (IAGP)
Enamel hypoplasia  (IAGP)
Everted lower lip vermilion  (IAGP)
Fine hair  (IAGP)
Fragile nails  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplastic fingernail  (IAGP)
Hypoplastic toenails  (IAGP)
Impaired mastication  (IAGP)
Lip pit  (IAGP)
Low self esteem  (IAGP)
Macrodontia  (IAGP)
Malnutrition  (IAGP)
Maternal teratogenic exposure  (IAGP)
Microdontia  (IAGP)
Microdontia of primary teeth  (IAGP)
Nail pits  (IAGP)
Nasal speech  (IAGP)
Oligodontia  (IAGP)
Oral cleft  (IAGP)
Oral-pharyngeal dysphagia  (IAGP)
Palate fistula  (IAGP)
Peg-shaped maxillary lateral incisors  (IAGP)
Polycystic ovaries  (IAGP)
Polyhydramnios  (IAGP)
Poor suck  (IAGP)
Recurrent otitis media  (IAGP)
Ridged fingernail  (IAGP)
Ridged nail  (IAGP)
Short dental root  (IAGP)
Short face  (IAGP)
Situs inversus totalis  (IAGP)
Small for gestational age  (IAGP)
Small nail  (IAGP)
Sparse hair  (IAGP)
Specific learning disability  (IAGP)
Speech articulation difficulties  (IAGP)
Supernumerary maxillary incisor  (IAGP)
Talipes equinovarus  (IAGP)
Taurodontia  (IAGP)
Thin toenail  (IAGP)
Umbilical hernia  (IAGP)
Unilateral cleft palate  (IAGP)
Velopharyngeal insufficiency  (IAGP)
Widely spaced teeth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Altered expression of muscle- and cytoskeleton-related genes in a rat strain with inherited cryptorchidism. Barthold JS, etal., J Androl. 2008 May-Jun;29(3):352-66. Epub 2008 Jan 24.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. Jezewski PA, etal., J Med Genet. 2003 Jun;40(6):399-407.
4. Regulation of MT melatonin receptor expression in the foetal rat pituitary. Johnston JD, etal., J Neuroendocrinol. 2006 Jan;18(1):50-6.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Vastardis H, etal., Nat Genet. 1996 Aug;13(4):417-21.
Additional References at PubMed
PMID:1284527   PMID:1685479   PMID:1969845   PMID:1973146   PMID:2565810   PMID:8700832   PMID:9111364   PMID:9369446   PMID:9697309   PMID:10215616   PMID:10529415   PMID:10742093  
PMID:10862767   PMID:11115394   PMID:11332647   PMID:11369996   PMID:11384957   PMID:11390985   PMID:11754469   PMID:12097313   PMID:12477932   PMID:12490878   PMID:12651933   PMID:12652527  
PMID:12733956   PMID:12974677   PMID:15029481   PMID:15264286   PMID:15381719   PMID:15489334   PMID:15705871   PMID:16002402   PMID:16327884   PMID:16344560   PMID:16600910   PMID:16651263  
PMID:16678795   PMID:16868654   PMID:16932841   PMID:17326252   PMID:17557248   PMID:17559452   PMID:17693062   PMID:18070437   PMID:18177186   PMID:18374898   PMID:18379900   PMID:18698632  
PMID:18705505   PMID:18788550   PMID:18932005   PMID:19274049   PMID:19346736   PMID:19389651   PMID:19453261   PMID:19475667   PMID:19776500   PMID:19816326   PMID:19922584   PMID:20004191  
PMID:20060342   PMID:20087401   PMID:20211142   PMID:20450679   PMID:20506112   PMID:20538960   PMID:20544801   PMID:20572854   PMID:20602873   PMID:20620318   PMID:20634891   PMID:20635363  
PMID:20638926   PMID:20660504   PMID:20672350   PMID:20942943   PMID:21111400   PMID:21177256   PMID:21366807   PMID:21387540   PMID:21448236   PMID:21626677   PMID:21689018   PMID:21717107  
PMID:21740177   PMID:21866112   PMID:21873635   PMID:21972896   PMID:21988832   PMID:22297032   PMID:22455953   PMID:22591773   PMID:22813217   PMID:23130753   PMID:23382810   PMID:23580168  
PMID:23708191   PMID:23718693   PMID:23731659   PMID:23903689   PMID:23921572   PMID:24103583   PMID:24222224   PMID:24316698   PMID:24329876   PMID:24554542   PMID:24603642   PMID:24748298  
PMID:24914010   PMID:25101640   PMID:25484111   PMID:25501212   PMID:25738424   PMID:25953455   PMID:26030286   PMID:26271668   PMID:26463473   PMID:26505791   PMID:26556783   PMID:26763252  
PMID:26786210   PMID:27194789   PMID:27228008   PMID:27312535   PMID:27356075   PMID:27365112   PMID:27381090   PMID:27485761   PMID:27729116   PMID:27917906   PMID:27966796   PMID:27996298  
PMID:28040065   PMID:28473536   PMID:28927893   PMID:28933666   PMID:29134539   PMID:29341488   PMID:29436596   PMID:29664137   PMID:29738289   PMID:30134957   PMID:30192788   PMID:30733598  
PMID:31056064   PMID:31568994   PMID:31781599   PMID:31914153   PMID:32210188   PMID:32296183   PMID:32381388   PMID:32630554   PMID:32784646   PMID:33200192   PMID:33419968   PMID:33923458  
PMID:34292692   PMID:35055037   PMID:35065635   PMID:35169223   PMID:35173309   PMID:35647187  


Genomics

Comparative Map Data
MSX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3844,859,665 - 4,863,936 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl44,859,665 - 4,863,936 (+)EnsemblGRCh38hg38GRCh38
GRCh3744,861,392 - 4,865,663 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3644,912,293 - 4,916,564 (+)NCBINCBI36hg18NCBI36
Build 3444,979,477 - 4,983,530NCBI
Celera44,758,413 - 4,762,671 (+)NCBI
Cytogenetic Map4p16.2NCBI
HuRef44,797,648 - 4,801,917 (+)NCBIHuRef
CHM1_144,859,330 - 4,863,591 (+)NCBICHM1_1
T2T-CHM13v2.044,829,290 - 4,833,545 (+)NCBI
Msx1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39537,977,835 - 37,981,929 (-)NCBIGRCm39mm39
GRCm39 Ensembl537,977,829 - 37,981,927 (-)Ensembl
GRCm38537,820,491 - 37,824,585 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl537,820,485 - 37,824,583 (-)EnsemblGRCm38mm10GRCm38
MGSCv37538,211,730 - 38,215,824 (-)NCBIGRCm37mm9NCBIm37
MGSCv36538,108,742 - 38,112,705 (-)NCBImm8
Celera535,276,257 - 35,280,351 (-)NCBICelera
Cytogenetic Map5B3NCBI
cM Map520.21NCBI
Msx1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21472,961,170 - 72,964,970 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1472,961,148 - 72,964,966 (+)Ensembl
Rnor_6.01477,712,262 - 77,716,061 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1477,712,240 - 77,716,059 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01477,690,990 - 77,694,789 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41478,257,345 - 78,261,144 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11478,259,735 - 78,263,533 (+)NCBI
Celera1471,923,586 - 71,927,385 (+)NCBICelera
Cytogenetic Map14q21NCBI
Msx1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555144,923,552 - 4,927,471 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555144,923,552 - 4,927,471 (-)NCBIChiLan1.0ChiLan1.0
MSX1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.144,935,603 - 4,939,117 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl44,935,600 - 4,939,079 (+)Ensemblpanpan1.1panPan2
MSX1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1370,232,790 - 70,236,295 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl370,232,052 - 70,236,447 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha372,783,942 - 72,787,987 (+)NCBI
ROS_Cfam_1.0370,991,546 - 70,995,590 (+)NCBI
ROS_Cfam_1.0 Ensembl370,991,361 - 70,995,465 (+)Ensembl
UMICH_Zoey_3.1370,263,330 - 70,267,578 (+)NCBI
UNSW_CanFamBas_1.0370,426,128 - 70,430,168 (+)NCBI
UU_Cfam_GSD_1.0370,808,811 - 70,812,856 (+)NCBI
Msx1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528563,704,859 - 63,711,968 (+)NCBI
SpeTri2.0NW_00493647717,406,551 - 17,413,615 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MSX1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl85,628,380 - 5,632,607 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.185,628,381 - 5,632,375 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.285,246,698 - 5,250,692 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MSX1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12741,028,763 - 41,032,676 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2741,028,919 - 41,033,006 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604787,832,093 - 87,836,013 (+)NCBIVero_WHO_p1.0
Msx1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475521,857,461 - 21,861,337 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462475521,857,360 - 21,861,235 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
G33875  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3744,863,916 - 4,864,222UniSTSGRCh37
Build 3644,914,817 - 4,915,123RGDNCBI36
Celera44,760,930 - 4,761,236RGD
Cytogenetic Map4p16.2UniSTS
HuRef44,800,170 - 4,800,476UniSTS
SHGC4-464  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3744,862,192 - 4,862,566UniSTSGRCh37
Build 3644,913,093 - 4,913,467RGDNCBI36
Celera44,759,212 - 4,759,586RGD
Cytogenetic Map4p16.2UniSTS
HuRef44,798,448 - 4,798,822UniSTS
TNG Radiation Hybrid Map465376.0UniSTS
G62104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3744,864,844 - 4,864,975UniSTSGRCh37
Build 3644,915,745 - 4,915,876RGDNCBI36
Celera44,761,858 - 4,761,989RGD
Cytogenetic Map4p16.2UniSTS
HuRef44,801,098 - 4,801,229UniSTS
D4S3135  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3744,865,005 - 4,865,117UniSTSGRCh37
Build 3644,915,906 - 4,916,018RGDNCBI36
Celera44,762,019 - 4,762,131RGD
Cytogenetic Map4p16.2UniSTS
HuRef44,801,259 - 4,801,371UniSTS
TNG Radiation Hybrid Map42836.0UniSTS
Stanford-G3 RH Map4350.0UniSTS
NCBI RH Map41777.7UniSTS
GeneMap99-G3 RH Map4334.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:681
Count of miRNA genes:551
Interacting mature miRNAs:601
Transcripts:ENST00000382723, ENST00000468421
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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 2
Medium 175 703 866 89 236 13 1765 143 1068 46 508 756 81 1160 916 1
Low 2166 1542 610 289 784 206 2568 2045 2663 362 946 818 93 1 44 1872 4 2
Below cutoff 94 562 246 243 682 243 23 3 2 9 4 25

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC092437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF426432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU117561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU624994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB356637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF065625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM213999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM214000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M97676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S75590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000382723   ⟹   ENSP00000372170
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl44,859,665 - 4,863,936 (+)Ensembl
RefSeq Acc Id: ENST00000468421
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl44,862,428 - 4,863,028 (+)Ensembl
RefSeq Acc Id: NM_002448   ⟹   NP_002439
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3844,859,665 - 4,863,936 (+)NCBI
GRCh3744,861,392 - 4,865,663 (+)ENTREZGENE
Build 3644,912,293 - 4,916,564 (+)NCBI Archive
HuRef44,797,648 - 4,801,917 (+)ENTREZGENE
CHM1_144,859,330 - 4,863,591 (+)NCBI
T2T-CHM13v2.044,829,290 - 4,833,545 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_002439 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52683 (Get FASTA)   NCBI Sequence Viewer  
  AAA58665 (Get FASTA)   NCBI Sequence Viewer  
  AAH21285 (Get FASTA)   NCBI Sequence Viewer  
  AAH67353 (Get FASTA)   NCBI Sequence Viewer  
  AAL17870 (Get FASTA)   NCBI Sequence Viewer  
  ABK81117 (Get FASTA)   NCBI Sequence Viewer  
  ADR64840 (Get FASTA)   NCBI Sequence Viewer  
  ADR64841 (Get FASTA)   NCBI Sequence Viewer  
  ADR64842 (Get FASTA)   NCBI Sequence Viewer  
  ADR64843 (Get FASTA)   NCBI Sequence Viewer  
  ADR64844 (Get FASTA)   NCBI Sequence Viewer  
  ADR64845 (Get FASTA)   NCBI Sequence Viewer  
  ADR64846 (Get FASTA)   NCBI Sequence Viewer  
  ADR64847 (Get FASTA)   NCBI Sequence Viewer  
  ADR64848 (Get FASTA)   NCBI Sequence Viewer  
  ADR64849 (Get FASTA)   NCBI Sequence Viewer  
  ADR64850 (Get FASTA)   NCBI Sequence Viewer  
  ADR64851 (Get FASTA)   NCBI Sequence Viewer  
  ADR64852 (Get FASTA)   NCBI Sequence Viewer  
  ADR64853 (Get FASTA)   NCBI Sequence Viewer  
  ADR64854 (Get FASTA)   NCBI Sequence Viewer  
  ADR64855 (Get FASTA)   NCBI Sequence Viewer  
  ADR64856 (Get FASTA)   NCBI Sequence Viewer  
  ADR64857 (Get FASTA)   NCBI Sequence Viewer  
  ADR64858 (Get FASTA)   NCBI Sequence Viewer  
  ADR64859 (Get FASTA)   NCBI Sequence Viewer  
  ADR64860 (Get FASTA)   NCBI Sequence Viewer  
  ADR64861 (Get FASTA)   NCBI Sequence Viewer  
  ADR64862 (Get FASTA)   NCBI Sequence Viewer  
  ADR64863 (Get FASTA)   NCBI Sequence Viewer  
  ADR64864 (Get FASTA)   NCBI Sequence Viewer  
  ADR64865 (Get FASTA)   NCBI Sequence Viewer  
  ADR64866 (Get FASTA)   NCBI Sequence Viewer  
  ADR64867 (Get FASTA)   NCBI Sequence Viewer  
  ADR64868 (Get FASTA)   NCBI Sequence Viewer  
  ADR64869 (Get FASTA)   NCBI Sequence Viewer  
  ADR64870 (Get FASTA)   NCBI Sequence Viewer  
  ADR64871 (Get FASTA)   NCBI Sequence Viewer  
  ADR64872 (Get FASTA)   NCBI Sequence Viewer  
  ADR64873 (Get FASTA)   NCBI Sequence Viewer  
  ADR64874 (Get FASTA)   NCBI Sequence Viewer  
  ADR64875 (Get FASTA)   NCBI Sequence Viewer  
  ADR64876 (Get FASTA)   NCBI Sequence Viewer  
  ADR64877 (Get FASTA)   NCBI Sequence Viewer  
  ADR64878 (Get FASTA)   NCBI Sequence Viewer  
  ADR64879 (Get FASTA)   NCBI Sequence Viewer  
  ADR64880 (Get FASTA)   NCBI Sequence Viewer  
  ADR64881 (Get FASTA)   NCBI Sequence Viewer  
  ADR64882 (Get FASTA)   NCBI Sequence Viewer  
  ADR64883 (Get FASTA)   NCBI Sequence Viewer  
  ADR64884 (Get FASTA)   NCBI Sequence Viewer  
  ADR64885 (Get FASTA)   NCBI Sequence Viewer  
  ADR64886 (Get FASTA)   NCBI Sequence Viewer  
  ADR64887 (Get FASTA)   NCBI Sequence Viewer  
  ADR64888 (Get FASTA)   NCBI Sequence Viewer  
  ADR64889 (Get FASTA)   NCBI Sequence Viewer  
  ADR64890 (Get FASTA)   NCBI Sequence Viewer  
  ADR64891 (Get FASTA)   NCBI Sequence Viewer  
  ADR64892 (Get FASTA)   NCBI Sequence Viewer  
  ADR64893 (Get FASTA)   NCBI Sequence Viewer  
  ADR64894 (Get FASTA)   NCBI Sequence Viewer  
  ADR64895 (Get FASTA)   NCBI Sequence Viewer  
  ADR64896 (Get FASTA)   NCBI Sequence Viewer  
  ADR64897 (Get FASTA)   NCBI Sequence Viewer  
  ADR64898 (Get FASTA)   NCBI Sequence Viewer  
  ADR64899 (Get FASTA)   NCBI Sequence Viewer  
  ADR64900 (Get FASTA)   NCBI Sequence Viewer  
  ADR64901 (Get FASTA)   NCBI Sequence Viewer  
  ADR64902 (Get FASTA)   NCBI Sequence Viewer  
  ADR64903 (Get FASTA)   NCBI Sequence Viewer  
  ADR64904 (Get FASTA)   NCBI Sequence Viewer  
  ADR64905 (Get FASTA)   NCBI Sequence Viewer  
  ADR64906 (Get FASTA)   NCBI Sequence Viewer  
  ADR64907 (Get FASTA)   NCBI Sequence Viewer  
  ADR64908 (Get FASTA)   NCBI Sequence Viewer  
  ADR64909 (Get FASTA)   NCBI Sequence Viewer  
  ADR64910 (Get FASTA)   NCBI Sequence Viewer  
  ADR64911 (Get FASTA)   NCBI Sequence Viewer  
  ADR64912 (Get FASTA)   NCBI Sequence Viewer  
  ADR64913 (Get FASTA)   NCBI Sequence Viewer  
  ADR64914 (Get FASTA)   NCBI Sequence Viewer  
  ADR64915 (Get FASTA)   NCBI Sequence Viewer  
  ADR64916 (Get FASTA)   NCBI Sequence Viewer  
  ADR64917 (Get FASTA)   NCBI Sequence Viewer  
  ADR64918 (Get FASTA)   NCBI Sequence Viewer  
  ADR64919 (Get FASTA)   NCBI Sequence Viewer  
  ADR64920 (Get FASTA)   NCBI Sequence Viewer  
  ADR64921 (Get FASTA)   NCBI Sequence Viewer  
  ADR64922 (Get FASTA)   NCBI Sequence Viewer  
  ADR64923 (Get FASTA)   NCBI Sequence Viewer  
  ADR64924 (Get FASTA)   NCBI Sequence Viewer  
  ADR64925 (Get FASTA)   NCBI Sequence Viewer  
  ADR64926 (Get FASTA)   NCBI Sequence Viewer  
  ADR64927 (Get FASTA)   NCBI Sequence Viewer  
  ADR64928 (Get FASTA)   NCBI Sequence Viewer  
  ADR64929 (Get FASTA)   NCBI Sequence Viewer  
  ADR64930 (Get FASTA)   NCBI Sequence Viewer  
  ADR64931 (Get FASTA)   NCBI Sequence Viewer  
  ADR64932 (Get FASTA)   NCBI Sequence Viewer  
  ADR64933 (Get FASTA)   NCBI Sequence Viewer  
  BAF83325 (Get FASTA)   NCBI Sequence Viewer  
  EAW82420 (Get FASTA)   NCBI Sequence Viewer  
  P28360 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_002439   ⟸   NM_002448
- UniProtKB: Q96NY4 (UniProtKB/Swiss-Prot),   P28360 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000372170   ⟸   ENST00000382723
Protein Domains
Homeobox

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P28360-F1-model_v2 AlphaFold P28360 1-303 view protein structure

Promoters
RGD ID:6866950
Promoter ID:EPDNEW_H6640
Type:initiation region
Name:MSX1_1
Description:msh homeobox 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3844,859,665 - 4,859,725EPDNEW
RGD ID:6802468
Promoter ID:HG_KWN:47768
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000206700
Position:
Human AssemblyChrPosition (strand)Source
Build 3644,912,086 - 4,912,586 (+)MPROMDB
RGD ID:6802469
Promoter ID:HG_KWN:47769
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000314055
Position:
Human AssemblyChrPosition (strand)Source
Build 3644,914,791 - 4,915,442 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002448.3(MSX1):c.324G>T (p.Ala108=) single nucleotide variant not provided [RCV000543047] Chr4:4860223 [GRCh38]
Chr4:4861950 [GRCh37]
Chr4:4p16.2
likely benign
NM_002448.3(MSX1):c.81dup (p.Gly28fs) duplication Tooth agenesis, selective, 1 [RCV000016016] Chr4:4859979..4859980 [GRCh38]
Chr4:4861706..4861707 [GRCh37]
Chr4:4p16.2
pathogenic
NM_002448.3(MSX1):c.661C>T (p.Gln221Ter) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000544581] Chr4:4862892 [GRCh38]
Chr4:4864619 [GRCh37]
Chr4:4p16.2
pathogenic
NM_002448.3(MSX1):c.89G>C (p.Gly30Ala) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000550347] Chr4:4859988 [GRCh38]
Chr4:4861715 [GRCh37]
Chr4:4p16.2
uncertain significance
NM_002448.3(MSX1):c.605G>C (p.Arg202Pro) single nucleotide variant Tooth agenesis, selective, 1 [RCV000016008] Chr4:4862836 [GRCh38]
Chr4:4864563 [GRCh37]
Chr4:4p16.2
pathogenic
NM_002448.3(MSX1):c.332C>A (p.Ser111Ter) single nucleotide variant Tooth agenesis, selective, 1 [RCV000016009] Chr4:4860231 [GRCh38]
Chr4:4861958 [GRCh37]
Chr4:4p16.2
pathogenic
NM_002448.3(MSX1):c.577C>T (p.Gln193Ter) single nucleotide variant Tooth agenesis, selective, 1 [RCV000016010] Chr4:4862808 [GRCh38]
Chr4:4864535 [GRCh37]
Chr4:4p16.2
pathogenic
NM_002448.3(MSX1):c.623C>A (p.Ser208Ter) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000016011] Chr4:4862854 [GRCh38]
Chr4:4864581 [GRCh37]
Chr4:4p16.2
pathogenic
NM_002448.3(MSX1):c.251A>T (p.Glu84Val) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001851883]|Orofacial cleft 5 [RCV000016012] Chr4:4860150 [GRCh38]
Chr4:4861877 [GRCh37]
Chr4:4p16.2
pathogenic|uncertain significance
NM_002448.3(MSX1):c.365G>A (p.Gly122Glu) single nucleotide variant Orofacial cleft 5 [RCV000016013] Chr4:4860264 [GRCh38]
Chr4:4861991 [GRCh37]
Chr4:4p16.2
pathogenic
NM_002448.3(MSX1):c.458C>A (p.Pro153Gln) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001448310]|Orofacial cleft 5 [RCV000016014]|not provided [RCV001528695] Chr4:4860357 [GRCh38]
Chr4:4862084 [GRCh37]
Chr4:4p16.2
pathogenic|likely benign|uncertain significance
NM_002448.3(MSX1):c.200T>A (p.Met67Lys) single nucleotide variant Tooth agenesis, selective, 1 [RCV000016015] Chr4:4860099 [GRCh38]
Chr4:4861826 [GRCh37]
Chr4:4p16.2
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3 copy number gain See cases [RCV000050906] Chr4:51519..8222798 [GRCh38]
Chr4:51413..8224525 [GRCh37]
Chr4:41413..8275425 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.2(chr4:4810396-5212384)x3 copy number gain See cases [RCV000050708] Chr4:4810396..5212384 [GRCh38]
Chr4:4812123..5214111 [GRCh37]
Chr4:4863024..5265012 [NCBI36]
Chr4:4p16.2
uncertain significance
GRCh38/hg38 4p16.3-16.2(chr4:4207414-5514441)x3 copy number gain See cases [RCV000051565] Chr4:4207414..5514441 [GRCh38]
Chr4:4209141..5516168 [GRCh37]
Chr4:4260042..5567069 [NCBI36]
Chr4:4p16.3-16.2
uncertain significance
GRCh38/hg38 4p16.2(chr4:4791822-5811236)x3 copy number gain See cases [RCV000051566] Chr4:4791822..5811236 [GRCh38]
Chr4:4793549..5812963 [GRCh37]
Chr4:4844450..5863864 [NCBI36]
Chr4:4p16.2
uncertain significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 copy number loss See cases [RCV000051614] Chr4:56878..14499760 [GRCh38]
Chr4:56772..14501384 [GRCh37]
Chr4:46772..14110482 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1 copy number loss See cases [RCV000051641] Chr4:72555..7829425 [GRCh38]
Chr4:72447..7831152 [GRCh37]
Chr4:62447..7882052 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1676799-5212384)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|See cases [RCV000051807] Chr4:1676799..5212384 [GRCh38]
Chr4:1678526..5214111 [GRCh37]
Chr4:1648324..5265012 [NCBI36]
Chr4:4p16.3-16.2
pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2
pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3 copy number gain See cases [RCV000051754] Chr4:72555..5607083 [GRCh38]
Chr4:72447..5608810 [GRCh37]
Chr4:62447..5659711 [NCBI36]
Chr4:4p16.3-16.2
pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:2231690-11197847)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|See cases [RCV000051758] Chr4:2231690..11197847 [GRCh38]
Chr4:2233417..11199471 [GRCh37]
Chr4:2203215..10808569 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1 copy number loss See cases [RCV000051671] Chr4:72555..5034991 [GRCh38]
Chr4:72447..5036718 [GRCh37]
Chr4:62447..5087619 [NCBI36]
Chr4:4p16.3-16.2
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] Chr4:72555..10004195 [GRCh38]
Chr4:72447..10005819 [GRCh37]
Chr4:62447..9614917 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] Chr4:72555..11610824 [GRCh38]
Chr4:72447..11612448 [GRCh37]
Chr4:62447..11221546 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1 copy number loss See cases [RCV000051677] Chr4:72555..5212384 [GRCh38]
Chr4:72447..5214111 [GRCh37]
Chr4:62447..5265012 [NCBI36]
Chr4:4p16.3-16.2
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1 copy number loss See cases [RCV000051678] Chr4:85149..7063699 [GRCh38]
Chr4:85040..7065426 [GRCh37]
Chr4:75040..7116327 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 copy number gain See cases [RCV000051743] Chr4:51319..10250807 [GRCh38]
Chr4:51213..10252431 [GRCh37]
Chr4:41213..9861529 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1 copy number loss See cases [RCV000051680] Chr4:85149..7843616 [GRCh38]
Chr4:85040..7845343 [GRCh37]
Chr4:75040..7896243 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1 copy number loss See cases [RCV000133846] Chr4:72555..5344810 [GRCh38]
Chr4:72447..5346537 [GRCh37]
Chr4:62447..5397438 [NCBI36]
Chr4:4p16.3-16.2
pathogenic
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 copy number loss See cases [RCV000135336] Chr4:78578..10335613 [GRCh38]
Chr4:78470..10337237 [GRCh37]
Chr4:68470..9946335 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 copy number gain See cases [RCV000135349] Chr4:78578..15625573 [GRCh38]
Chr4:78470..15627196 [GRCh37]
Chr4:68470..15236294 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1 copy number loss See cases [RCV000135436] Chr4:135972..9369341 [GRCh38]
Chr4:129753..9371067 [GRCh37]
Chr4:119753..8980165 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1 copy number loss See cases [RCV000135584] Chr4:72555..4888108 [GRCh38]
Chr4:72447..4889835 [GRCh37]
Chr4:62447..4940736 [NCBI36]
Chr4:4p16.3-16.2
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 copy number loss See cases [RCV000135532] Chr4:72555..15658035 [GRCh38]
Chr4:72447..15659658 [GRCh37]
Chr4:62447..15268756 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1 copy number loss See cases [RCV000136572] Chr4:72555..6243425 [GRCh38]
Chr4:72447..6245152 [GRCh37]
Chr4:62447..6296053 [NCBI36]
Chr4:4p16.3-16.1
pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1 copy number loss See cases [RCV000135992] Chr4:37335..9369258 [GRCh38]
Chr4:37336..9370984 [GRCh37]
Chr4:27336..8980082 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 copy number loss See cases [RCV000137036] Chr4:72555..10250666 [GRCh38]
Chr4:72447..10252290 [GRCh37]
Chr4:62447..9861388 [NCBI36]
Chr4:4p16.3-16.1
pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 copy number loss See cases [RCV000138198] Chr4:72555..12898612 [GRCh38]
Chr4:72447..12900236 [GRCh37]
Chr4:62447..12509334 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1 copy number loss See cases [RCV000138227] Chr4:36424..9369341 [GRCh38]
Chr4:36424..9371067 [GRCh37]
Chr4:26424..8980165 [NCBI36]
Chr4:4p16.3-16.1
pathogenic|uncertain significance
GRCh38/hg38 4p16.2(chr4:4863492-4864627)x1 copy number loss See cases [RCV000139088] Chr4:4863492..4864627 [GRCh38]
Chr4:4865219..4866354 [GRCh37]
Chr4:4916120..4917255 [NCBI36]
Chr4:4p16.2
likely benign
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 copy number loss See cases [RCV000139551] Chr4:37335..15869056 [GRCh38]
Chr4:37336..15870679 [GRCh37]
Chr4:27336..15479777 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1 copy number loss See cases [RCV000141940] Chr4:1964539..5912172 [GRCh38]
Chr4:1966266..5913899 [GRCh37]
Chr4:1936064..5964800 [NCBI36]
Chr4:4p16.3-16.2
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1 copy number loss See cases [RCV000141502] Chr4:4426403..17460549 [GRCh38]
Chr4:4428130..17462172 [GRCh37]
Chr4:4479031..17071270 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1 copy number loss See cases [RCV000142951] Chr4:36424..7359817 [GRCh38]
Chr4:36424..7361544 [GRCh37]
Chr4:26424..7412445 [NCBI36]
Chr4:4p16.3-16.1
pathogenic|likely benign
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1 copy number loss See cases [RCV000143377] Chr4:68453..8730129 [GRCh38]
Chr4:68345..8731855 [GRCh37]
Chr4:58345..8782755 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 copy number loss See cases [RCV000143686] Chr4:68453..14612453 [GRCh38]
Chr4:68345..14614077 [GRCh37]
Chr4:58345..14223175 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1 copy number loss See cases [RCV000143547] Chr4:68453..6055026 [GRCh38]
Chr4:68345..6056753 [GRCh37]
Chr4:58345..6107654 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
NM_002448.3(MSX1):c.910_911dup (p.Ter304TyrextTer?) duplication Tooth agenesis, selective, 1 [RCV000157079] Chr4:4863139..4863140 [GRCh38]
Chr4:4864866..4864867 [GRCh37]
Chr4:4p16.2
pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411) copy number loss 4p partial monosomy syndrome [RCV000767672] Chr4:75742..8672411 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:3776784-7361544)x1 copy number loss See cases [RCV000239959] Chr4:3776784..7361544 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1 copy number loss See cases [RCV000239427] Chr4:49450..8872474 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3 copy number gain See cases [RCV000240481] Chr4:127233..8667610 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
NM_002448.3(MSX1):c.127A>C (p.Met43Leu) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000987403] Chr4:4860026 [GRCh38]
Chr4:4861753 [GRCh37]
Chr4:4p16.2
benign
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV000449078] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
NM_002448.3(MSX1):c.471G>T (p.Arg157Ser) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000950563]|Orofacial cleft 5 [RCV000490415] Chr4:4862702 [GRCh38]
Chr4:4864429 [GRCh37]
Chr4:4p16.2
benign|uncertain significance
NM_002448.3(MSX1):c.123C>A (p.Ala41=) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001450153]|not provided [RCV000530583] Chr4:4860022 [GRCh38]
Chr4:4861749 [GRCh37]
Chr4:4p16.2
likely benign
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 copy number loss See cases [RCV000446287] Chr4:68345..15197147 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000447633] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 copy number loss See cases [RCV000448933] Chr4:71552..15302739 [GRCh37]
Chr4:4p16.3-15.32
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 copy number loss See cases [RCV000512104] Chr4:68345..10336032 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000510565] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1
likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 copy number loss See cases [RCV000511351] Chr4:68345..13770107 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5319773)x1 copy number loss See cases [RCV000511691] Chr4:68345..5319773 [GRCh37]
Chr4:4p16.3-16.2
pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1
pathogenic
NM_002448.3(MSX1):c.752_753delinsAA (p.Phe251Ter) indel Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000556981] Chr4:4862983..4862984 [GRCh38]
Chr4:4864710..4864711 [GRCh37]
Chr4:4p16.2
uncertain significance
NM_002448.3(MSX1):c.561G>A (p.Leu187=) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000536344] Chr4:4862792 [GRCh38]
Chr4:4864519 [GRCh37]
Chr4:4p16.2
benign
NM_002448.3(MSX1):c.365G>T (p.Gly122Val) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000560292] Chr4:4860264 [GRCh38]
Chr4:4861991 [GRCh37]
Chr4:4p16.2
uncertain significance
NM_002448.3(MSX1):c.86C>T (p.Ala29Val) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000537833]|not provided [RCV001618724] Chr4:4859985 [GRCh38]
Chr4:4861712 [GRCh37]
Chr4:4p16.2
benign
NM_002448.3(MSX1):c.*276A>G single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000636825]|not provided [RCV001539465] Chr4:4863419 [GRCh38]
Chr4:4865146 [GRCh37]
Chr4:4p16.2
benign
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:2364201-5447465)x1 copy number loss not provided [RCV000682370] Chr4:2364201..5447465 [GRCh37]
Chr4:4p16.3-16.2
pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 copy number loss not provided [RCV000682373] Chr4:4165334..33324781 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
NM_002448.3(MSX1):c.95C>T (p.Ala32Val) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000686500] Chr4:4859994 [GRCh38]
Chr4:4861721 [GRCh37]
Chr4:4p16.2
likely benign|uncertain significance
NM_002448.3(MSX1):c.310G>C (p.Gly104Arg) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000701085] Chr4:4860209 [GRCh38]
Chr4:4861936 [GRCh37]
Chr4:4p16.2
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12
pathogenic
NM_002448.3(MSX1):c.624G>T (p.Ser208=) single nucleotide variant not provided [RCV000872215] Chr4:4862855 [GRCh38]
Chr4:4864582 [GRCh37]
Chr4:4p16.2
likely benign
Single allele single nucleotide variant not provided [RCV001708186] Chr4:4859396 [GRCh38]
Chr4:4861123 [GRCh37]
Chr4:4p16.2
benign
NM_002448.3(MSX1):c.470-47A>G single nucleotide variant not provided [RCV001645048] Chr4:4862654 [GRCh38]
Chr4:4864381 [GRCh37]
Chr4:4p16.2
benign
NM_002448.3(MSX1):c.821C>T (p.Ala274Val) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000983935] Chr4:4863052 [GRCh38]
Chr4:4864779 [GRCh37]
Chr4:4p16.2
likely benign
NM_002448.3(MSX1):c.151A>G (p.Lys51Glu) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000983862] Chr4:4860050 [GRCh38]
Chr4:4861777 [GRCh37]
Chr4:4p16.2
benign
NM_002448.3(MSX1):c.609G>C (p.Ala203=) single nucleotide variant not provided [RCV000951722] Chr4:4862840 [GRCh38]
Chr4:4864567 [GRCh37]
Chr4:4p16.2
likely benign
NM_002448.3(MSX1):c.119C>G (p.Ala40Gly) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000987402]|not provided [RCV001664589] Chr4:4860018 [GRCh38]
Chr4:4861745 [GRCh37]
Chr4:4p16.2
benign
GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1 copy number loss not provided [RCV001005513] Chr4:68345..6984507 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
NM_002448.3(MSX1):c.102C>G (p.Ser34Arg) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000801655] Chr4:4860001 [GRCh38]
Chr4:4861728 [GRCh37]
Chr4:4p16.2
uncertain significance
NM_002448.3(MSX1):c.817G>A (p.Gly273Ser) single nucleotide variant Craniosynostosis syndrome [RCV000985272] Chr4:4863048 [GRCh38]
Chr4:4864775 [GRCh37]
Chr4:4p16.2
uncertain significance
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2
pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:3374195-13468480)x1 copy number loss not provided [RCV000845896] Chr4:3374195..13468480 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
NM_002448.3(MSX1):c.470-127C>A single nucleotide variant not provided [RCV001652925] Chr4:4862574 [GRCh38]
Chr4:4864301 [GRCh37]
Chr4:4p16.2
benign
Single allele deletion not provided [RCV001539490] Chr4:4859342..4859351 [GRCh38]
Chr4:4861069..4861078 [GRCh37]
Chr4:4p16.2
benign
NM_002448.3(MSX1):c.469+219G>A single nucleotide variant not provided [RCV001639466] Chr4:4860587 [GRCh38]
Chr4:4862314 [GRCh37]
Chr4:4p16.2
benign
NM_002448.3(MSX1):c.-18G>A single nucleotide variant not provided [RCV001609884] Chr4:4859882 [GRCh38]
Chr4:4861609 [GRCh37]
Chr4:4p16.2
benign
NM_002448.3(MSX1):c.778C>A (p.Pro260Thr) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001503619]|not provided [RCV000872860] Chr4:4863009 [GRCh38]
Chr4:4864736 [GRCh37]
Chr4:4p16.2
likely benign
NM_002448.3(MSX1):c.65G>A (p.Gly22Asp) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000952390] Chr4:4859964 [GRCh38]
Chr4:4861691 [GRCh37]
Chr4:4p16.2
likely benign
NM_002448.3(MSX1):c.243G>A (p.Ala81=) single nucleotide variant not provided [RCV000933288] Chr4:4860142 [GRCh38]
Chr4:4861869 [GRCh37]
Chr4:4p16.2
likely benign
NM_002448.3(MSX1):c.218C>T (p.Pro73Leu) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000872407] Chr4:4860117 [GRCh38]
Chr4:4861844 [GRCh37]
Chr4:4p16.2
benign
NM_002448.3(MSX1):c.581A>G (p.Lys194Arg) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001218812] Chr4:4862812 [GRCh38]
Chr4:4864539 [GRCh37]
Chr4:4p16.2
uncertain significance
NM_002448.3(MSX1):c.682_683del (p.Lys228fs) deletion Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001036941]|Tooth agenesis, selective, 1 [RCV002222195] Chr4:4862912..4862913 [GRCh38]
Chr4:4864639..4864640 [GRCh37]
Chr4:4p16.2
uncertain significance
NM_002448.3(MSX1):c.470-198A>G single nucleotide variant not provided [RCV001620869] Chr4:4862503 [GRCh38]
Chr4:4864230 [GRCh37]
Chr4:4p16.2
benign
NM_002448.3(MSX1):c.470-129G>A single nucleotide variant not provided [RCV001689326] Chr4:4862572 [GRCh38]
Chr4:4864299 [GRCh37]
Chr4:4p16.2
benign
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1 copy number loss not provided [RCV001005512] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2
pathogenic
NM_002448.3(MSX1):c.470-152A>G single nucleotide variant not provided [RCV001689522] Chr4:4862549 [GRCh38]
Chr4:4864276 [GRCh37]
Chr4:4p16.2
benign
NM_002448.3(MSX1):c.469+5G>C single nucleotide variant not provided [RCV001703286] Chr4:4860373 [GRCh38]
Chr4:4862100 [GRCh37]
Chr4:4p16.2
likely pathogenic
Single allele single nucleotide variant not provided [RCV001671171] Chr4:4859409 [GRCh38]
Chr4:4861136 [GRCh37]
Chr4:4p16.2
benign
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 copy number loss not provided [RCV001537927] Chr4:68598..18912995 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
NM_002448.3(MSX1):c.469+232A>T single nucleotide variant not provided [RCV001708894] Chr4:4860600 [GRCh38]
Chr4:4862327 [GRCh37]
Chr4:4p16.2
benign
NM_002448.3(MSX1):c.89G>A (p.Gly30Asp) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001197533] Chr4:4859988 [GRCh38]
Chr4:4861715 [GRCh37]
Chr4:4p16.2
likely benign
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1 copy number loss not provided [RCV001005514] Chr4:68345..10312798 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1 copy number loss not provided [RCV001005511] Chr4:68345..9768141 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
NM_002448.3(MSX1):c.655_659del (p.Trp219fs) deletion Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001048347] Chr4:4862886..4862890 [GRCh38]
Chr4:4864613..4864617 [GRCh37]
Chr4:4p16.2
pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1 copy number loss not provided [RCV001258643] Chr4:68345..5046326 [GRCh37]
Chr4:4p16.3-16.2
pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1 copy number loss not provided [RCV001258644] Chr4:68345..5831521 [GRCh37]
Chr4:4p16.3-16.2
pathogenic
NM_002448.3(MSX1):c.599C>T (p.Ala200Val) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001262377] Chr4:4862830 [GRCh38]
Chr4:4864557 [GRCh37]
Chr4:4p16.2
uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:2909440-6871516) copy number loss microdeletion 4p16.3p16.1 [RCV001255691] Chr4:2909440..6871516 [GRCh37]
Chr4:4p16.3-16.1
likely pathogenic
NM_002448.3(MSX1):c.796G>A (p.Ala266Thr) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001338072] Chr4:4863027 [GRCh38]
Chr4:4864754 [GRCh37]
Chr4:4p16.2
uncertain significance
NM_002448.3(MSX1):c.670C>T (p.Arg224Cys) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001326470] Chr4:4862901 [GRCh38]
Chr4:4864628 [GRCh37]
Chr4:4p16.2
uncertain significance
NM_002448.3(MSX1):c.623C>G (p.Ser208Trp) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001322640] Chr4:4862854 [GRCh38]
Chr4:4864581 [GRCh37]
Chr4:4p16.2
uncertain significance
NM_002448.3(MSX1):c.576_577insTAG (p.Gln193Ter) insertion Oligodontia [RCV001374733] Chr4:4862807..4862808 [GRCh38]
Chr4:4864534..4864535 [GRCh37]
Chr4:4p16.2
pathogenic
NC_000004.11:g.(?_2200251)_(5710240_?)del deletion Ellis-van Creveld syndrome [RCV001386270] Chr4:2200251..5710240 [GRCh37]
Chr4:4p16.3-16.2
pathogenic
NM_002448.3(MSX1):c.526C>A (p.Arg176=) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001486971] Chr4:4862757 [GRCh38]
Chr4:4864484 [GRCh37]
Chr4:4p16.2
likely benign
NM_002448.3(MSX1):c.195G>A (p.Ala65=) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001505869] Chr4:4860094 [GRCh38]
Chr4:4861821 [GRCh37]
Chr4:4p16.2
likely benign
NM_002448.3(MSX1):c.297G>C (p.Pro99=) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001522391] Chr4:4860196 [GRCh38]
Chr4:4861923 [GRCh37]
Chr4:4p16.2
benign
NM_002448.3(MSX1):c.348C>T (p.Gly116=) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001512803]|not provided [RCV001692402] Chr4:4860247 [GRCh38]
Chr4:4861974 [GRCh37]
Chr4:4p16.2
benign
NM_002448.3(MSX1):c.*6C>T single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001513161]|not provided [RCV001724325] Chr4:4863149 [GRCh38]
Chr4:4864876 [GRCh37]
Chr4:4p16.2
benign
NM_002448.3(MSX1):c.108C>A (p.Ala36=) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001481314] Chr4:4860007 [GRCh38]
Chr4:4861734 [GRCh37]
Chr4:4p16.2
likely benign
NM_002448.3(MSX1):c.469+46_469+56del microsatellite Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001509904]|not provided [RCV001655737] Chr4:4860399..4860409 [GRCh38]
Chr4:4862126..4862136 [GRCh37]
Chr4:4p16.2
benign
Single allele deletion not provided [RCV002227826] Chr4:3101924..7588850 [GRCh38]
Chr4:4p16.3-16.1
likely pathogenic
NM_002448.3(MSX1):c.605G>A (p.Arg202His) single nucleotide variant not provided [RCV001730243] Chr4:4862836 [GRCh38]
Chr4:4864563 [GRCh37]
Chr4:4p16.2
pathogenic|likely pathogenic
NM_002448.3(MSX1):c.519_525dup (p.Arg176Ter) duplication Orofacial cleft 5 [RCV001771824] Chr4:4862746..4862747 [GRCh38]
Chr4:4864473..4864474 [GRCh37]
Chr4:4p16.2
pathogenic
NM_002448.3(MSX1):c.782C>G (p.Ala261Gly) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001914874] Chr4:4863013 [GRCh38]
Chr4:4864740 [GRCh37]
Chr4:4p16.2
uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 copy number loss not provided [RCV001829146] Chr4:68345..20587167 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
NC_000004.11:g.(?_4861627)_(6304195_?)dup duplication not provided [RCV001918830] Chr4:4861627..6304195 [GRCh37]
Chr4:4p16.2-16.1
uncertain significance
NM_002448.3(MSX1):c.683dup (p.Arg229fs) duplication Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001898322] Chr4:4862911..4862912 [GRCh38]
Chr4:4864638..4864639 [GRCh37]
Chr4:4p16.2
pathogenic
NM_002448.3(MSX1):c.280C>T (p.Gln94Ter) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001934405] Chr4:4860179 [GRCh38]
Chr4:4861906 [GRCh37]
Chr4:4p16.2
pathogenic
NM_002448.3(MSX1):c.544G>A (p.Ala182Thr) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001954469] Chr4:4862775 [GRCh38]
Chr4:4864502 [GRCh37]
Chr4:4p16.2
uncertain significance
NM_002448.3(MSX1):c.741_750del (p.Pro248fs) deletion Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001935378] Chr4:4862966..4862975 [GRCh38]
Chr4:4864693..4864702 [GRCh37]
Chr4:4p16.2
uncertain significance
NM_002448.3(MSX1):c.850C>T (p.Pro284Ser) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV002047668] Chr4:4863081 [GRCh38]
Chr4:4864808 [GRCh37]
Chr4:4p16.2
uncertain significance
NM_002448.3(MSX1):c.77G>C (p.Gly26Ala) single nucleotide variant Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV002209349] Chr4:4859976 [GRCh38]
Chr4:4861703 [GRCh37]
Chr4:4p16.2
likely benign
NM_002448.3(MSX1):c.421G>A (p.Glu141Lys) single nucleotide variant not provided [RCV002224806] Chr4:4860320 [GRCh38]
Chr4:4862047 [GRCh37]
Chr4:4p16.2
uncertain significance
NM_002448.3(MSX1):c.94G>T (p.Ala32Ser) single nucleotide variant not provided [RCV002255229] Chr4:4859993 [GRCh38]
Chr4:4861720 [GRCh37]
Chr4:4p16.2
uncertain significance
NM_002448.3(MSX1):c.289G>A (p.Gly97Ser) single nucleotide variant MSX1-related selective tooth agenesis with or without orofacial cleft [RCV002260570] Chr4:4860188 [GRCh38]
Chr4:4861915 [GRCh37]
Chr4:4p16.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7391 AgrOrtholog
COSMIC MSX1 COSMIC
Ensembl Genes ENSG00000163132 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000372170 ENTREZGENE
  ENSP00000372170.4 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000382723 ENTREZGENE
  ENST00000382723.5 UniProtKB/Swiss-Prot
GTEx ENSG00000163132 GTEx
HGNC ID HGNC:7391 ENTREZGENE
Human Proteome Map MSX1 Human Proteome Map
InterPro Homeobox-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_metazoa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HTH_motif UniProtKB/TrEMBL
KEGG Report hsa:4487 UniProtKB/Swiss-Prot
NCBI Gene 4487 ENTREZGENE
OMIM 106600 OMIM
  142983 OMIM
  189500 OMIM
  608874 OMIM
Pfam Homeodomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31196 PharmGKB
PRINTS HOMEOBOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HTHREPRESSR UniProtKB/TrEMBL
PROSITE HOMEOBOX_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HOMEOBOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E9KXS6_HUMAN UniProtKB/TrEMBL
  E9KXS7_HUMAN UniProtKB/TrEMBL
  E9KXS8_HUMAN UniProtKB/TrEMBL
  E9KXS9_HUMAN UniProtKB/TrEMBL
  E9KXT0_HUMAN UniProtKB/TrEMBL
  E9KXT1_HUMAN UniProtKB/TrEMBL
  E9KXT2_HUMAN UniProtKB/TrEMBL
  E9KXT3_HUMAN UniProtKB/TrEMBL
  E9KXT4_HUMAN UniProtKB/TrEMBL
  E9KXT5_HUMAN UniProtKB/TrEMBL
  E9KXT6_HUMAN UniProtKB/TrEMBL
  E9KXT7_HUMAN UniProtKB/TrEMBL
  E9KXT8_HUMAN UniProtKB/TrEMBL
  E9KXT9_HUMAN UniProtKB/TrEMBL
  E9KXU0_HUMAN UniProtKB/TrEMBL
  E9KXU1_HUMAN UniProtKB/TrEMBL
  E9KXU2_HUMAN UniProtKB/TrEMBL
  E9KXU3_HUMAN UniProtKB/TrEMBL
  E9KXU4_HUMAN UniProtKB/TrEMBL
  E9KXU5_HUMAN UniProtKB/TrEMBL
  E9KXU6_HUMAN UniProtKB/TrEMBL
  E9KXU7_HUMAN UniProtKB/TrEMBL
  E9KXU8_HUMAN UniProtKB/TrEMBL
  E9KXU9_HUMAN UniProtKB/TrEMBL
  E9KXV0_HUMAN UniProtKB/TrEMBL
  E9KXV1_HUMAN UniProtKB/TrEMBL
  E9KXV2_HUMAN UniProtKB/TrEMBL
  E9KXV3_HUMAN UniProtKB/TrEMBL
  E9KXV4_HUMAN UniProtKB/TrEMBL
  E9KXV5_HUMAN UniProtKB/TrEMBL
  E9KXV6_HUMAN UniProtKB/TrEMBL
  E9KXV7_HUMAN UniProtKB/TrEMBL
  E9KXV8_HUMAN UniProtKB/TrEMBL
  E9KXV9_HUMAN UniProtKB/TrEMBL
  E9KXW0_HUMAN UniProtKB/TrEMBL
  E9KXW1_HUMAN UniProtKB/TrEMBL
  E9KXW2_HUMAN UniProtKB/TrEMBL
  E9KXW3_HUMAN UniProtKB/TrEMBL
  E9KXW4_HUMAN UniProtKB/TrEMBL
  E9KXW5_HUMAN UniProtKB/TrEMBL
  E9KXW6_HUMAN UniProtKB/TrEMBL
  E9KXW7_HUMAN UniProtKB/TrEMBL
  E9KXW8_HUMAN UniProtKB/TrEMBL
  E9KXW9_HUMAN UniProtKB/TrEMBL
  E9KXX0_HUMAN UniProtKB/TrEMBL
  E9KXX1_HUMAN UniProtKB/TrEMBL
  E9KXX2_HUMAN UniProtKB/TrEMBL
  E9KXX3_HUMAN UniProtKB/TrEMBL
  E9KXX4_HUMAN UniProtKB/TrEMBL
  E9KXX5_HUMAN UniProtKB/TrEMBL
  E9KXX6_HUMAN UniProtKB/TrEMBL
  E9KXX7_HUMAN UniProtKB/TrEMBL
  E9KXX8_HUMAN UniProtKB/TrEMBL
  E9KXX9_HUMAN UniProtKB/TrEMBL
  E9KXY0_HUMAN UniProtKB/TrEMBL
  E9KXY1_HUMAN UniProtKB/TrEMBL
  E9KXY2_HUMAN UniProtKB/TrEMBL
  E9KXY3_HUMAN UniProtKB/TrEMBL
  E9KXY4_HUMAN UniProtKB/TrEMBL
  E9KXY5_HUMAN UniProtKB/TrEMBL
  E9KXY6_HUMAN UniProtKB/TrEMBL
  E9KXY7_HUMAN UniProtKB/TrEMBL
  E9KXY8_HUMAN UniProtKB/TrEMBL
  E9KXY9_HUMAN UniProtKB/TrEMBL
  E9KXZ0_HUMAN UniProtKB/TrEMBL
  E9KXZ1_HUMAN UniProtKB/TrEMBL
  E9KXZ2_HUMAN UniProtKB/TrEMBL
  E9KXZ3_HUMAN UniProtKB/TrEMBL
  E9KXZ4_HUMAN UniProtKB/TrEMBL
  E9KXZ5_HUMAN UniProtKB/TrEMBL
  E9KXZ6_HUMAN UniProtKB/TrEMBL
  E9KXZ7_HUMAN UniProtKB/TrEMBL
  E9KXZ8_HUMAN UniProtKB/TrEMBL
  E9KXZ9_HUMAN UniProtKB/TrEMBL
  E9KY00_HUMAN UniProtKB/TrEMBL
  E9KY01_HUMAN UniProtKB/TrEMBL
  E9KY02_HUMAN UniProtKB/TrEMBL
  E9KY03_HUMAN UniProtKB/TrEMBL
  E9KY04_HUMAN UniProtKB/TrEMBL
  E9KY05_HUMAN UniProtKB/TrEMBL
  E9KY06_HUMAN UniProtKB/TrEMBL
  E9KY07_HUMAN UniProtKB/TrEMBL
  E9KY08_HUMAN UniProtKB/TrEMBL
  E9KY09_HUMAN UniProtKB/TrEMBL
  E9KY10_HUMAN UniProtKB/TrEMBL
  E9KY11_HUMAN UniProtKB/TrEMBL
  E9KY12_HUMAN UniProtKB/TrEMBL
  E9KY13_HUMAN UniProtKB/TrEMBL
  E9KY14_HUMAN UniProtKB/TrEMBL
  E9KY15_HUMAN UniProtKB/TrEMBL
  E9KY16_HUMAN UniProtKB/TrEMBL
  E9KY17_HUMAN UniProtKB/TrEMBL
  E9KY18_HUMAN UniProtKB/TrEMBL
  E9KY19_HUMAN UniProtKB/TrEMBL
  MSX1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q96NY4 ENTREZGENE
UniProt Secondary A0SZU5 UniProtKB/Swiss-Prot
  A8K3M1 UniProtKB/Swiss-Prot
  Q96NY4 UniProtKB/Swiss-Prot