MBP (myelin basic protein) - Rat Genome Database

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Gene: MBP (myelin basic protein) Homo sapiens
Analyze
Symbol: MBP
Name: myelin basic protein
RGD ID: 736262
HGNC Page HGNC:6925
Description: Enables calmodulin binding activity and lipid binding activity. Involved in several processes, including maintenance of blood-brain barrier; negative regulation of heterotypic cell-cell adhesion; and positive regulation of macromolecule metabolic process. Located in myelin sheath. Part of protein-containing complex. Implicated in multiple sclerosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Golli-MBP; MGC99675; myelin A1 protein; myelin membrane encephalitogenic protein; proline-rich proteoglycan 2
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
Is Marker For: QTLs:   MULTSCL1_H  
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: MBP (Gene ID: 4155) and MBL2 (Gene ID: 4153) share the MBP symbol/alias in common. MBP is a widely used alternative name for mannose binding lectin 2 (MBL2), which can be confused with the official symbol for MBP (myelin basic protein, GeneID 4155). [01 Jun 2018]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381876,978,833 - 77,133,708 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1876,978,827 - 77,133,683 (-)EnsemblGRCh38hg38GRCh38
GRCh371874,690,789 - 74,844,739 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361872,819,777 - 72,973,762 (-)NCBINCBI36Build 36hg18NCBI36
Build 341872,820,710 - 72,857,962NCBI
Celera1871,507,828 - 71,661,692 (-)NCBICelera
Cytogenetic Map18q23NCBI
HuRef1871,371,431 - 71,525,606 (-)NCBIHuRef
CHM1_11874,686,498 - 74,841,139 (-)NCBICHM1_1
T2T-CHM13v2.01877,209,381 - 77,363,810 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(20S)-20-hydroxypregn-4-en-3-one  (ISO)
(R,R,R)-alpha-tocopherol  (EXP)
(S)-nicotine  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (ISO)
1-octadec-9-enoylglycero-3-phosphate  (ISO)
17beta-estradiol  (ISO)
2,2',3,3',6,6'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-D  (ISO)
2,5-hexanedione  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2-trans,6-trans,10-trans-geranylgeranyl diphosphate  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (ISO)
6-propyl-2-thiouracil  (ISO)
6alpha-methylprednisolone  (EXP)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
agmatine  (ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
amiodarone  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenite(3-)  (EXP)
arsenous acid  (ISO)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bortezomib  (EXP)
brucine  (ISO)
butanal  (EXP)
butyric acid  (EXP)
C60 fullerene  (ISO)
cadmium dichloride  (ISO)
carbofuran  (ISO)
casticin  (ISO)
chloroacetic acid  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
clozapine  (EXP,ISO)
cocaine  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (ISO)
crocidolite asbestos  (ISO)
Cuprizon  (ISO)
cycloheximide  (ISO)
dexamethasone  (EXP)
diarsenic trioxide  (ISO)
diethyldithiocarbamic acid  (ISO)
diiodine  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (ISO)
endosulfan  (ISO)
ethanol  (ISO)
ethylenediaminetetraacetic acid  (ISO)
etoposide  (EXP)
folic acid  (ISO)
fonofos  (EXP)
formaldehyde  (EXP)
fulvestrant  (EXP,ISO)
gamma-hexachlorocyclohexane  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glyburide  (ISO)
glycerol  (ISO)
haloperidol  (ISO)
hydrogen peroxide  (ISO)
indometacin  (EXP,ISO)
irinotecan  (EXP)
ivermectin  (EXP)
ketamine  (ISO)
L-methionine  (ISO)
lead diacetate  (EXP,ISO)
lead(0)  (EXP,ISO)
lead(2+)  (EXP,ISO)
leflunomide  (EXP)
lidocaine  (ISO)
linagliptin  (ISO)
lovastatin  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
melatonin  (ISO)
methamphetamine  (ISO)
methapyrilene  (EXP)
methotrexate  (EXP)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (ISO)
mitomycin C  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
neocuproine  (ISO)
nickel atom  (EXP)
nicotine  (ISO)
nitric oxide  (ISO)
nitrofen  (ISO)
ochratoxin A  (EXP,ISO)
Octicizer  (EXP)
ozone  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
parathion  (EXP)
PCB138  (ISO)
pentanal  (EXP)
permethrin  (ISO)
phencyclidine  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
poly(I:C)  (ISO)
procymidone  (ISO)
progesterone  (ISO)
quetiapine fumarate  (ISO)
rifampicin  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
scopolamine  (ISO)
selenic acid  (ISO)
selenium atom  (ISO)
silicon dioxide  (EXP,ISO)
sirolimus  (ISO)
sodium arsenate  (EXP,ISO)
sodium arsenite  (ISO)
sodium dichromate  (EXP)
sodium fluoride  (ISO)
streptozocin  (ISO)
tamibarotene  (ISO)
tamoxifen  (EXP)
terbufos  (EXP)
testosterone  (EXP,ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (EXP)
trichostatin A  (EXP)
trimethylamine N-oxide  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
urethane  (EXP)
ursodeoxycholic acid  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)
Y-27632  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Association between maternal periapical lesions and brain inflammation in rat pups. Bain JL, etal., Arch Oral Biol. 2013 Mar;58(3):266-71. doi: 10.1016/j.archoralbio.2012.11.007. Epub 2012 Dec 12.
2. Selective effect of hypothyroidism on expression of myelin markers during development. Barradas PC, etal., J Neurosci Res. 2001 Oct 15;66(2):254-61. doi: 10.1002/jnr.1218.
3. Microstructural changes observed with DKI in a transgenic Huntington rat model: evidence for abnormal neurodevelopment. Blockx I, etal., Neuroimage. 2012 Jan 16;59(2):957-67. doi: 10.1016/j.neuroimage.2011.08.062. Epub 2011 Aug 30.
4. DNA length polymorphism 5' to the myelin basic protein gene is associated with multiple sclerosis. Boylan KB, etal., Ann Neurol 1990 Mar;27(3):291-7.
5. Protective effects of pentoxifylline on lipopolysaccharide-induced white matter injury in a rat model of periventricular leukomalasia. Dilek M, etal., J Matern Fetal Neonatal Med. 2013 Jul 23.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. Focal cerebral ischemia induces increased myelin basic protein and growth-associated protein-43 gene transcription in peri-infarct areas in the rat brain. Gregersen R, etal., Exp Brain Res. 2001 Jun;138(3):384-92.
8. Evaluation of a rat model of experimental autoimmune encephalomyelitis with human MBP as antigen. Guo L, etal., Cell Mol Immunol. 2004 Oct;1(5):387-91.
9. Thyroxin Treatment Protects Against White Matter Injury in The Immature Brain via Brain-Derived Neurotrophic Factor. Hung PL, etal., Stroke. 2013 Aug;44(8):2275-83. doi: 10.1161/STROKEAHA.113.001552. Epub 2013 May 28.
10. [Relationship between anti-myelin basic protein antibody and myelinoclasis in rat brain stem after brain trauma]. Li W, etal., Nan Fang Yi Ke Da Xue Xue Bao. 2008 Jun;28(6):1028-30.
11. Alterations of myelin proteins in inflammatory demyelination of BALB/c mice caused by Angiostrongylus cantonensis. Lin KY, etal., Vet Parasitol. 2010 Jul 15;171(1-2):74-80. doi: 10.1016/j.vetpar.2010.03.019. Epub 2010 Mar 30.
12. Autoantibodies to neuron-specific proteins S100, GFAP, MBP and NGF in the serum of rats with streptozotocin-induced diabetes. Lotosh NG, etal., Bull Exp Biol Med. 2013 May;155(1):48-51.
13. Insertion of a retrotransposon in Mbp disrupts mRNA splicing and myelination in a new mutant rat. O'Connor LT, etal., J Neurosci 1999 May 1;19(9):3404-13.
14. Exacerbation of experimental autoimmune encephalomyelitis in rodents infected with murine gammaherpesvirus-68. Peacock JW, etal., Eur J Immunol. 2003 Jul;33(7):1849-58. doi: 10.1002/eji.200323148.
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. Acute urinary retention due to benign inflammatory nervous diseases. Sakakibara R, etal., J Neurol. 2006 Aug;253(8):1103-10. Epub 2006 May 6.
17. Beneficial effect of TNF-alpha inhibition on diabetic peripheral neuropathy. Shi X, etal., J Neuroinflammation. 2013 Jun 4;10:69. doi: 10.1186/1742-2094-10-69.
18. Experimental autoimmune encephalomyelitis in rodents as a model for human demyelinating disease. Swanborg RH Clin Immunol Immunopathol 1995 Oct;77(1):4-13.
19. Hydrogen rich saline reduces immune-mediated brain injury in rats with acute carbon monoxide poisoning. Wang W, etal., Neurol Res. 2012 Dec;34(10):1007-15. doi: 10.1179/1743132812Y.0000000106.
20. Altered hippocampal myelinated fiber integrity in a lithium-pilocarpine model of temporal lobe epilepsy: a histopathological and stereological investigation. Ye Y, etal., Brain Res. 2013 Jul 19;1522:76-87. doi: 10.1016/j.brainres.2013.05.026. Epub 2013 May 28.
21. Myelination deficit in a phencyclidine-induced neurodevelopmental model of schizophrenia. Zhang R, etal., Brain Res. 2012 Aug 21;1469:136-43. doi: 10.1016/j.brainres.2012.06.003. Epub 2012 Jun 29.
Additional References at PubMed
PMID:1689270   PMID:2413024   PMID:2414074   PMID:2425357   PMID:2426402   PMID:2427738   PMID:2434243   PMID:2437795   PMID:2442403   PMID:2449425   PMID:2466844   PMID:2467009  
PMID:2472816   PMID:4099924   PMID:4108501   PMID:4924231   PMID:5128665   PMID:6083474   PMID:6201481   PMID:7504278   PMID:7544282   PMID:7574672   PMID:7685161   PMID:8170997  
PMID:8375396   PMID:8537403   PMID:8544862   PMID:8617731   PMID:8647104   PMID:8786845   PMID:8846788   PMID:8889548   PMID:9020143   PMID:9136767   PMID:9207191   PMID:9535915  
PMID:9596579   PMID:9782128   PMID:9873047   PMID:10339476   PMID:10346818   PMID:10371216   PMID:10383403   PMID:10390541   PMID:10464310   PMID:10523312   PMID:10708586   PMID:10958680  
PMID:10978313   PMID:10980603   PMID:11080454   PMID:11120354   PMID:11124993   PMID:11152681   PMID:11258664   PMID:11402068   PMID:11570821   PMID:11641781   PMID:11683387   PMID:11864968  
PMID:11875070   PMID:11964256   PMID:11983899   PMID:12097319   PMID:12101123   PMID:12114318   PMID:12237860   PMID:12377379   PMID:12429732   PMID:12477932   PMID:12588875   PMID:12618862  
PMID:12624112   PMID:12939427   PMID:12944901   PMID:12955071   PMID:12965257   PMID:14530346   PMID:14579272   PMID:14594813   PMID:14702039   PMID:14702098   PMID:14714495   PMID:14743429  
PMID:15009677   PMID:15147269   PMID:15328539   PMID:15380617   PMID:15489334   PMID:15728454   PMID:15791647   PMID:15797222   PMID:15870294   PMID:15886202   PMID:15927069   PMID:16079912  
PMID:16216881   PMID:16269541   PMID:16387849   PMID:16412431   PMID:16441258   PMID:16712791   PMID:16713569   PMID:16842822   PMID:16871440   PMID:16900754   PMID:17064692   PMID:17081983  
PMID:17174311   PMID:17259179   PMID:17260967   PMID:17331951   PMID:17351112   PMID:17584768   PMID:17599067   PMID:17622942   PMID:17639074   PMID:17690840   PMID:17706965   PMID:17823288  
PMID:17906618   PMID:18067995   PMID:18284662   PMID:18458804   PMID:18663124   PMID:18713991   PMID:18720029   PMID:18802067   PMID:18936157   PMID:19014520   PMID:19034380   PMID:19053745  
PMID:19110265   PMID:19154657   PMID:19293155   PMID:19372141   PMID:19385666   PMID:19423540   PMID:19468823   PMID:19470755   PMID:19570024   PMID:19663312   PMID:19690890   PMID:19692707  
PMID:19826009   PMID:19855925   PMID:19910486   PMID:19950581   PMID:20212043   PMID:20406964   PMID:20438785   PMID:20471030   PMID:20596670   PMID:20629634   PMID:20807757   PMID:21203542  
PMID:21312222   PMID:21315177   PMID:21551065   PMID:21601398   PMID:21609718   PMID:21653829   PMID:21673997   PMID:21806997   PMID:21860087   PMID:21873635   PMID:21898163   PMID:22258479  
PMID:22496821   PMID:22524708   PMID:22538354   PMID:22542401   PMID:22705344   PMID:22778266   PMID:22888134   PMID:22890910   PMID:22926577   PMID:22939629   PMID:22968126   PMID:23166209  
PMID:23239230   PMID:23264040   PMID:23315809   PMID:23510371   PMID:23520443   PMID:23524951   PMID:23532252   PMID:23726766   PMID:24104479   PMID:24412244   PMID:24667176   PMID:24681954  
PMID:24739384   PMID:24975362   PMID:25276831   PMID:25416956   PMID:25738751   PMID:25825474   PMID:26166702   PMID:26199377   PMID:26476704   PMID:26496610   PMID:26518750   PMID:26526848  
PMID:26756931   PMID:26781085   PMID:27519525   PMID:27599511   PMID:27748888   PMID:28130959   PMID:28298427   PMID:28413712   PMID:28514442   PMID:28537443   PMID:28611215   PMID:28648598  
PMID:28919586   PMID:29028399   PMID:29507755   PMID:30639242   PMID:31184779   PMID:31237711   PMID:31291231   PMID:31515488   PMID:31980649   PMID:32296183   PMID:32431704   PMID:33143355  
PMID:33435385   PMID:33895854   PMID:33961781   PMID:34439806   PMID:34889995   PMID:34961984   PMID:35031058  


Genomics

Comparative Map Data
MBP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381876,978,833 - 77,133,708 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1876,978,827 - 77,133,683 (-)EnsemblGRCh38hg38GRCh38
GRCh371874,690,789 - 74,844,739 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361872,819,777 - 72,973,762 (-)NCBINCBI36Build 36hg18NCBI36
Build 341872,820,710 - 72,857,962NCBI
Celera1871,507,828 - 71,661,692 (-)NCBICelera
Cytogenetic Map18q23NCBI
HuRef1871,371,431 - 71,525,606 (-)NCBIHuRef
CHM1_11874,686,498 - 74,841,139 (-)NCBICHM1_1
T2T-CHM13v2.01877,209,381 - 77,363,810 (-)NCBIT2T-CHM13v2.0
Mbp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391882,492,883 - 82,603,762 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1882,493,271 - 82,603,762 (+)EnsemblGRCm39 Ensembl
GRCm381882,475,091 - 82,585,637 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1882,475,146 - 82,585,637 (+)EnsemblGRCm38mm10GRCm38
MGSCv371882,644,515 - 82,755,029 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361882,609,551 - 82,720,065 (+)NCBIMGSCv36mm8
Celera1883,548,320 - 83,655,575 (+)NCBICelera
Cytogenetic Map18E3NCBI
cM Map1855.84NCBI
Mbp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21875,855,878 - 75,966,404 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1875,855,878 - 75,966,404 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1877,957,063 - 78,067,713 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01878,627,339 - 78,737,995 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01876,475,022 - 76,586,142 (+)NCBIRnor_WKY
Rnor_6.01879,326,738 - 79,437,310 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1879,326,738 - 79,437,310 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01878,385,304 - 78,504,226 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41878,943,608 - 79,057,329 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11879,098,861 - 79,130,602 (+)NCBI
Celera1874,493,165 - 74,602,969 (+)NCBICelera
Cytogenetic Map18q12.3NCBI
Mbp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540260,323,950 - 60,441,406 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540260,324,060 - 60,448,926 (-)NCBIChiLan1.0ChiLan1.0
MBP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11873,628,537 - 73,781,956 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1873,629,522 - 73,755,351 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01870,369,882 - 70,526,693 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
MBP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.112,841,801 - 2,952,553 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl12,846,589 - 2,951,860 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha13,844,963 - 3,959,816 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.012,644,339 - 2,759,352 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl12,644,344 - 2,759,352 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.112,689,655 - 2,804,648 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.012,640,084 - 2,755,067 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.012,810,294 - 2,925,302 (+)NCBIUU_Cfam_GSD_1.0
Mbp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494416,761,025 - 16,837,898 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366162,082,099 - 2,159,070 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049366162,082,154 - 2,159,028 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MBP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1147,590,865 - 147,685,290 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11147,649,516 - 147,685,289 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
MBP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1182,844,154 - 2,996,640 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl182,868,795 - 2,997,046 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606022,960,760 - 23,116,155 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mbp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248063,489,681 - 3,588,335 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248063,465,881 - 3,587,428 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MBP
11 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:22387
Count of miRNA genes:1575
Interacting mature miRNAs:2261
Transcripts:ENST00000354542, ENST00000355994, ENST00000359645, ENST00000382582, ENST00000397860, ENST00000397863, ENST00000397865, ENST00000397866, ENST00000397868, ENST00000397869, ENST00000397875, ENST00000447114, ENST00000459948, ENST00000467108, ENST00000473302, ENST00000482445, ENST00000483025, ENST00000484548, ENST00000487778, ENST00000490319, ENST00000490754, ENST00000493247, ENST00000493623, ENST00000495162, ENST00000497479, ENST00000498683, ENST00000526111, ENST00000527041, ENST00000527975, ENST00000528160, ENST00000531144, ENST00000533278, ENST00000577755, ENST00000578193, ENST00000578715, ENST00000578873, ENST00000579129, ENST00000580402, ENST00000580473, ENST00000581179, ENST00000581878, ENST00000582282, ENST00000583118, ENST00000583266, ENST00000583474, ENST00000583798, ENST00000585201, ENST00000585216
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
D18S1097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,779,944 - 74,780,148UniSTSGRCh37
Build 361872,908,932 - 72,909,136RGDNCBI36
Celera1871,596,898 - 71,597,102RGD
Cytogenetic Map18q23UniSTS
HuRef1871,460,204 - 71,460,408UniSTS
Marshfield Genetic Map18118.84RGD
Marshfield Genetic Map18118.84UniSTS
Genethon Genetic Map18116.7UniSTS
deCODE Assembly Map18115.18UniSTS
Stanford-G3 RH Map183137.0UniSTS
GeneMap99-G3 RH Map183137.0UniSTS
SHGC-8023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,690,835 - 74,691,037UniSTSGRCh37
Build 361872,819,823 - 72,820,025RGDNCBI36
Celera1871,507,874 - 71,508,076RGD
Cytogenetic Map18q23UniSTS
HuRef1871,371,477 - 71,371,679UniSTS
TNG Radiation Hybrid Map1831265.0UniSTS
TNG Radiation Hybrid Map1831269.0UniSTS
GeneMap99-G3 RH Map183181.0UniSTS
GeneMap99-G3 RH Map183166.0UniSTS
SHGC-8101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,691,017 - 74,691,191UniSTSGRCh37
Build 361872,820,005 - 72,820,179RGDNCBI36
Celera1871,508,056 - 71,508,230RGD
Cytogenetic Map18q23UniSTS
GeneMap99-G3 RH Map183166.0UniSTS
SHGC-30049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,690,813 - 74,690,936UniSTSGRCh37
Build 361872,819,801 - 72,819,924RGDNCBI36
Celera1871,507,852 - 71,507,975RGD
Cytogenetic Map18q23UniSTS
HuRef1871,371,455 - 71,371,578UniSTS
TNG Radiation Hybrid Map1831123.0UniSTS
GeneMap99-G3 RH Map183181.0UniSTS
SHGC-8076  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,690,942 - 74,691,037UniSTSGRCh37
Build 361872,819,930 - 72,820,025RGDNCBI36
Celera1871,507,981 - 71,508,076RGD
Cytogenetic Map18q23UniSTS
HuRef1871,371,584 - 71,371,679UniSTS
TNG Radiation Hybrid Map1831269.0UniSTS
Stanford-G3 RH Map183181.0UniSTS
GeneMap99-G3 RH Map183181.0UniSTS
RH102385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,695,915 - 74,696,072UniSTSGRCh37
Build 361872,824,903 - 72,825,060RGDNCBI36
Celera1871,512,954 - 71,513,111RGD
Cytogenetic Map18q23UniSTS
HuRef1871,376,557 - 71,376,714UniSTS
GeneMap99-GB4 RH Map18474.48UniSTS
RH103774  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,845,594 - 74,845,778UniSTSGRCh37
Build 361872,974,582 - 72,974,766RGDNCBI36
Celera1871,662,512 - 71,662,696RGD
Cytogenetic Map18q23UniSTS
HuRef1871,526,426 - 71,526,610UniSTS
GeneMap99-GB4 RH Map18473.52UniSTS
G60281  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,690,933 - 74,691,235UniSTSGRCh37
Build 361872,819,921 - 72,820,223RGDNCBI36
Celera1871,507,972 - 71,508,274RGD
Cytogenetic Map18q23UniSTS
HuRef1871,371,575 - 71,371,877UniSTS
TNG Radiation Hybrid Map1831265.0UniSTS
D18S927E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,724,834 - 74,725,050UniSTSGRCh37
Build 361872,853,822 - 72,854,038RGDNCBI36
Celera1871,541,863 - 71,542,079RGD
Cytogenetic Map18q23UniSTS
HuRef1871,405,467 - 71,405,683UniSTS
GDB:192404  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,730,020 - 74,731,071UniSTSGRCh37
Build 361872,859,008 - 72,860,059RGDNCBI36
Celera1871,547,049 - 71,547,964RGD
Cytogenetic Map18q23UniSTS
HuRef1871,410,655 - 71,411,425UniSTS
GDB:196611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,729,425 - 74,730,007UniSTSGRCh37
Build 361872,858,413 - 72,858,995RGDNCBI36
Celera1871,546,454 - 71,547,036RGD
Cytogenetic Map18q23UniSTS
HuRef1871,410,060 - 71,410,642UniSTS
GDB:196682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,730,974 - 74,731,114UniSTSGRCh37
GRCh371874,730,886 - 74,731,114UniSTSGRCh37
Build 361872,859,874 - 72,860,102RGDNCBI36
Celera1871,547,867 - 71,548,007UniSTS
Celera1871,547,779 - 71,548,007RGD
Cytogenetic Map18q23UniSTS
HuRef1871,411,252 - 71,411,468UniSTS
HuRef1871,411,348 - 71,411,468UniSTS
GDB:216766  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,728,631 - 74,729,887UniSTSGRCh37
Build 361872,857,619 - 72,858,875RGDNCBI36
Celera1871,545,660 - 71,546,916RGD
Cytogenetic Map18q23UniSTS
HuRef1871,409,266 - 71,410,522UniSTS
SHGC-142185  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,784,420 - 74,784,709UniSTSGRCh37
Build 361872,913,408 - 72,913,697RGDNCBI36
Celera1871,601,374 - 71,601,663RGD
Cytogenetic Map18q23UniSTS
HuRef1871,464,680 - 71,464,969UniSTS
TNG Radiation Hybrid Map1831207.0UniSTS
SHGC-142581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,784,420 - 74,784,706UniSTSGRCh37
Build 361872,913,408 - 72,913,694RGDNCBI36
Celera1871,601,374 - 71,601,660RGD
Cytogenetic Map18q23UniSTS
HuRef1871,464,680 - 71,464,966UniSTS
TNG Radiation Hybrid Map1831202.0UniSTS
SHGC-150932  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,779,943 - 74,780,215UniSTSGRCh37
Build 361872,908,931 - 72,909,203RGDNCBI36
Celera1871,596,897 - 71,597,169RGD
Cytogenetic Map18q23UniSTS
HuRef1871,460,203 - 71,460,475UniSTS
TNG Radiation Hybrid Map1831220.0UniSTS
TNG Radiation Hybrid Map117210.0UniSTS
WI-15134  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,726,329 - 74,726,455UniSTSGRCh37
Build 361872,855,317 - 72,855,443RGDNCBI36
Celera1871,543,358 - 71,543,484RGD
Cytogenetic Map18q23UniSTS
HuRef1871,406,962 - 71,407,088UniSTS
GeneMap99-GB4 RH Map18474.58UniSTS
Whitehead-RH Map18520.0UniSTS
WI-9286  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,728,563 - 74,728,675UniSTSGRCh37
Build 361872,857,551 - 72,857,663RGDNCBI36
Celera1871,545,592 - 71,545,704RGD
Cytogenetic Map18q23UniSTS
HuRef1871,409,198 - 71,409,310UniSTS
GeneMap99-GB4 RH Map18474.48UniSTS
Whitehead-RH Map18519.5UniSTS
MBP_206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,691,472 - 74,692,351UniSTSGRCh37
Build 361872,820,460 - 72,821,339RGDNCBI36
Celera1871,508,511 - 71,509,390RGD
HuRef1871,372,114 - 71,372,993UniSTS
D18S540E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,691,020 - 74,691,186UniSTSGRCh37
Build 361872,820,008 - 72,820,174RGDNCBI36
Celera1871,508,059 - 71,508,225RGD
Cytogenetic Map18q23UniSTS
HuRef1871,371,662 - 71,371,828UniSTS
D18S1220  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,691,984 - 74,692,318UniSTSGRCh37
Build 361872,820,972 - 72,821,306RGDNCBI36
Celera1871,509,023 - 71,509,357RGD
Cytogenetic Map18q23UniSTS
HuRef1871,372,626 - 71,372,960UniSTS
Stanford-G3 RH Map183154.0UniSTS
GeneMap99-G3 RH Map183154.0UniSTS
D18S908E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,724,743 - 74,724,859UniSTSGRCh37
Build 361872,853,731 - 72,853,847RGDNCBI36
Celera1871,541,772 - 71,541,888RGD
Cytogenetic Map18q23UniSTS
HuRef1871,405,376 - 71,405,492UniSTS
GeneMap99-GB4 RH Map18474.48UniSTS
STS-N24137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,725,987 - 74,726,118UniSTSGRCh37
Build 361872,854,975 - 72,855,106RGDNCBI36
Celera1871,543,016 - 71,543,147RGD
Cytogenetic Map18q23UniSTS
HuRef1871,406,620 - 71,406,751UniSTS
GeneMap99-GB4 RH Map18474.48UniSTS
RH68154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,724,951 - 74,725,034UniSTSGRCh37
Build 361872,853,939 - 72,854,022RGDNCBI36
Celera1871,541,980 - 71,542,063RGD
Cytogenetic Map18q23UniSTS
HuRef1871,405,584 - 71,405,667UniSTS
GeneMap99-GB4 RH Map18474.48UniSTS
SHGC-33881  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,826,220 - 74,826,369UniSTSGRCh37
Build 361872,955,208 - 72,955,357RGDNCBI36
Celera1871,643,272 - 71,643,421RGD
Cytogenetic Map18q23UniSTS
HuRef1871,506,652 - 71,506,801UniSTS
GeneMap99-GB4 RH Map18490.38UniSTS
Whitehead-RH Map18539.8UniSTS
GeneMap99-G3 RH Map183141.0UniSTS
D18S1250  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,764,723 - 74,764,898UniSTSGRCh37
Build 361872,893,711 - 72,893,886RGDNCBI36
Celera1871,581,676 - 71,581,851RGD
Cytogenetic Map18q23UniSTS
HuRef1871,444,975 - 71,445,150UniSTS
Whitehead-YAC Contig Map18 UniSTS
SHGC-58298  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,778,069 - 74,778,161UniSTSGRCh37
Build 361872,907,057 - 72,907,149RGDNCBI36
Celera1871,595,023 - 71,595,115RGD
Cytogenetic Map18q23UniSTS
HuRef1871,458,329 - 71,458,421UniSTS
TNG Radiation Hybrid Map1831168.0UniSTS
RH71176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,826,406 - 74,826,558UniSTSGRCh37
Build 361872,955,394 - 72,955,546RGDNCBI36
Celera1871,643,458 - 71,643,610RGD
Cytogenetic Map18q23UniSTS
HuRef1871,506,838 - 71,506,990UniSTS
GeneMap99-GB4 RH Map18474.48UniSTS
WI-15273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,697,389 - 74,697,530UniSTSGRCh37
Build 361872,826,377 - 72,826,518RGDNCBI36
Celera1871,514,428 - 71,514,569RGD
Cytogenetic Map18q23UniSTS
HuRef1871,378,031 - 71,378,172UniSTS
GeneMap99-GB4 RH Map18473.06UniSTS
Whitehead-RH Map18518.1UniSTS
SHGC-56482  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371874,693,227 - 74,693,417UniSTSGRCh37
Build 361872,822,215 - 72,822,405RGDNCBI36
Celera1871,510,266 - 71,510,456RGD
Cytogenetic Map18q23UniSTS
HuRef1871,373,869 - 71,374,059UniSTS
TNG Radiation Hybrid Map1831261.0UniSTS
SHGC-4191  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q23UniSTS
HuRef1871,371,473 - 71,371,624UniSTS
GeneMap99-G3 RH Map183174.0UniSTS


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 9 862 9
Medium 244 642 290 29 1274 19 1616 386 2487 100 221 584 19 193 1203
Low 2191 2340 1418 594 653 445 2719 1764 331 313 1224 1005 156 1 1011 1576 4 2
Below cutoff 1 7 16 1 13 1 10 25 33 3 8 15

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001025081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001025090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001025092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001025100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001025101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC080654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG766942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM977768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU430656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB153535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB156561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ846348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR536534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR627018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS255751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC679210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L18862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L18864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L18865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L18866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L41657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M20009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M30047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M30515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M30516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M63599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  N20370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X17286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X17287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X17288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X17289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X17290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X17369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000354542   ⟹   ENSP00000346545
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,980,327 - 77,017,261 (-)Ensembl
RefSeq Acc Id: ENST00000355994   ⟹   ENSP00000348273
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,978,833 - 77,132,783 (-)Ensembl
RefSeq Acc Id: ENST00000359645   ⟹   ENSP00000352667
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,979,767 - 77,017,042 (-)Ensembl
RefSeq Acc Id: ENST00000382582   ⟹   ENSP00000372025
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,978,827 - 77,017,095 (-)Ensembl
RefSeq Acc Id: ENST00000397860   ⟹   ENSP00000380958
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1877,012,779 - 77,132,769 (-)Ensembl
RefSeq Acc Id: ENST00000397863   ⟹   ENSP00000380961
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1877,012,779 - 77,131,684 (-)Ensembl
RefSeq Acc Id: ENST00000397865   ⟹   ENSP00000380963
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,978,861 - 77,017,086 (-)Ensembl
RefSeq Acc Id: ENST00000397866   ⟹   ENSP00000380964
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,978,852 - 77,017,062 (-)Ensembl
RefSeq Acc Id: ENST00000397868
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,984,728 - 77,017,055 (-)Ensembl
RefSeq Acc Id: ENST00000397869   ⟹   ENSP00000380967
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,980,301 - 77,017,055 (-)Ensembl
RefSeq Acc Id: ENST00000397875   ⟹   ENSP00000380973
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,978,852 - 77,017,055 (-)Ensembl
RefSeq Acc Id: ENST00000447114   ⟹   ENSP00000405882
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,984,774 - 77,010,122 (-)Ensembl
RefSeq Acc Id: ENST00000459948   ⟹   ENSP00000435322
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,988,494 - 77,017,061 (-)Ensembl
RefSeq Acc Id: ENST00000467108
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,988,476 - 77,017,058 (-)Ensembl
RefSeq Acc Id: ENST00000473302   ⟹   ENSP00000432988
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,984,808 - 77,017,055 (-)Ensembl
RefSeq Acc Id: ENST00000482445
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,989,726 - 77,017,055 (-)Ensembl
RefSeq Acc Id: ENST00000483025   ⟹   ENSP00000442393
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,984,813 - 77,017,055 (-)Ensembl
RefSeq Acc Id: ENST00000484548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,987,590 - 77,017,042 (-)Ensembl
RefSeq Acc Id: ENST00000487778
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1877,016,979 - 77,132,814 (-)Ensembl
RefSeq Acc Id: ENST00000490319
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,978,834 - 76,987,956 (-)Ensembl
RefSeq Acc Id: ENST00000490754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1877,017,070 - 77,133,683 (-)Ensembl
RefSeq Acc Id: ENST00000493247
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1877,065,774 - 77,087,609 (-)Ensembl
RefSeq Acc Id: ENST00000493623   ⟹   ENSP00000436951
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,984,854 - 77,017,055 (-)Ensembl
RefSeq Acc Id: ENST00000495162
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1877,017,085 - 77,087,651 (-)Ensembl
RefSeq Acc Id: ENST00000497479
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1877,017,119 - 77,133,683 (-)Ensembl
RefSeq Acc Id: ENST00000498683   ⟹   ENSP00000437063
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,989,979 - 77,017,778 (-)Ensembl
RefSeq Acc Id: ENST00000526111   ⟹   ENSP00000435641
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,980,353 - 77,017,065 (-)Ensembl
RefSeq Acc Id: ENST00000527041   ⟹   ENSP00000435243
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,979,741 - 77,017,065 (-)Ensembl
RefSeq Acc Id: ENST00000527975   ⟹   ENSP00000431267
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,980,275 - 77,017,058 (-)Ensembl
RefSeq Acc Id: ENST00000528160   ⟹   ENSP00000436830
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,980,064 - 77,017,062 (-)Ensembl
RefSeq Acc Id: ENST00000531144   ⟹   ENSP00000431335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,980,337 - 77,017,065 (-)Ensembl
RefSeq Acc Id: ENST00000533278   ⟹   ENSP00000434011
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,980,351 - 77,017,065 (-)Ensembl
RefSeq Acc Id: ENST00000577755   ⟹   ENSP00000462780
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,980,235 - 77,017,000 (-)Ensembl
RefSeq Acc Id: ENST00000578193   ⟹   ENSP00000463403
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,980,455 - 77,017,055 (-)Ensembl
RefSeq Acc Id: ENST00000578715
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,980,292 - 76,985,487 (-)Ensembl
RefSeq Acc Id: ENST00000578873   ⟹   ENSP00000463137
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,988,410 - 77,017,055 (-)Ensembl
RefSeq Acc Id: ENST00000579129   ⟹   ENSP00000463780
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,980,427 - 77,132,844 (-)Ensembl
RefSeq Acc Id: ENST00000580402   ⟹   ENSP00000462223
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,980,427 - 77,105,261 (-)Ensembl
RefSeq Acc Id: ENST00000580473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,984,795 - 77,087,582 (-)Ensembl
RefSeq Acc Id: ENST00000581179
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,984,795 - 77,017,055 (-)Ensembl
RefSeq Acc Id: ENST00000581878   ⟹   ENSP00000462374
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1877,016,930 - 77,127,945 (-)Ensembl
RefSeq Acc Id: ENST00000582282
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,984,804 - 77,017,051 (-)Ensembl
RefSeq Acc Id: ENST00000583118
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,988,321 - 77,009,900 (-)Ensembl
RefSeq Acc Id: ENST00000583266
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1877,005,884 - 77,017,055 (-)Ensembl
RefSeq Acc Id: ENST00000583474   ⟹   ENSP00000462758
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,980,345 - 77,017,055 (-)Ensembl
RefSeq Acc Id: ENST00000583798   ⟹   ENSP00000463164
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1877,066,312 - 77,127,712 (-)Ensembl
RefSeq Acc Id: ENST00000585201   ⟹   ENSP00000462734
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,978,835 - 76,990,023 (-)Ensembl
RefSeq Acc Id: ENST00000585216
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,985,250 - 77,017,055 (-)Ensembl
RefSeq Acc Id: ENST00000673800
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1876,989,956 - 77,017,383 (-)Ensembl
RefSeq Acc Id: NM_001025081   ⟹   NP_001020252
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381876,978,833 - 77,017,055 (-)NCBI
GRCh371874,690,789 - 74,844,774 (-)ENTREZGENE
Build 361872,819,777 - 72,858,043 (-)NCBI Archive
HuRef1871,371,431 - 71,525,606 (-)ENTREZGENE
CHM1_11874,686,498 - 74,724,750 (-)NCBI
T2T-CHM13v2.01877,209,381 - 77,247,588 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001025090   ⟹   NP_001020261
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381876,978,833 - 77,017,055 (-)NCBI
GRCh371874,690,789 - 74,844,774 (-)ENTREZGENE
Build 361872,819,777 - 72,858,043 (-)NCBI Archive
HuRef1871,371,431 - 71,525,606 (-)ENTREZGENE
CHM1_11874,686,498 - 74,724,750 (-)NCBI
T2T-CHM13v2.01877,209,381 - 77,247,588 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001025092   ⟹   NP_001020263
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381876,978,833 - 77,017,055 (-)NCBI
GRCh371874,690,789 - 74,844,774 (-)ENTREZGENE
Build 361872,819,777 - 72,858,043 (-)NCBI Archive
HuRef1871,371,431 - 71,525,606 (-)ENTREZGENE
CHM1_11874,686,498 - 74,724,750 (-)NCBI
T2T-CHM13v2.01877,209,381 - 77,247,588 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001025100   ⟹   NP_001020271
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381877,012,793 - 77,132,783 (-)NCBI
GRCh371874,690,789 - 74,844,774 (-)ENTREZGENE
Build 361872,853,727 - 72,973,762 (-)NCBI Archive
HuRef1871,371,431 - 71,525,606 (-)ENTREZGENE
CHM1_11874,720,435 - 74,841,139 (-)NCBI
T2T-CHM13v2.01877,243,324 - 77,363,810 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001025101   ⟹   NP_001020272
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381876,978,833 - 77,132,783 (-)NCBI
GRCh371874,690,789 - 74,844,774 (-)ENTREZGENE
Build 361872,819,777 - 72,973,762 (-)NCBI Archive
HuRef1871,371,431 - 71,525,606 (-)ENTREZGENE
CHM1_11874,686,498 - 74,841,139 (-)NCBI
T2T-CHM13v2.01877,209,381 - 77,363,810 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002385   ⟹   NP_002376
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381876,978,833 - 77,017,055 (-)NCBI
GRCh371874,690,789 - 74,844,774 (-)ENTREZGENE
Build 361872,819,777 - 72,858,043 (-)NCBI Archive
HuRef1871,371,431 - 71,525,606 (-)ENTREZGENE
CHM1_11874,686,498 - 74,724,750 (-)NCBI
T2T-CHM13v2.01877,209,381 - 77,247,588 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047437521   ⟹   XP_047293477
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381876,987,703 - 77,132,783 (-)NCBI
RefSeq Acc Id: XM_047437522   ⟹   XP_047293478
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381876,987,703 - 77,132,783 (-)NCBI
RefSeq Acc Id: XM_047437523   ⟹   XP_047293479
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381876,987,703 - 77,133,708 (-)NCBI
RefSeq Acc Id: XM_047437524   ⟹   XP_047293480
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381876,987,703 - 77,132,100 (-)NCBI
RefSeq Acc Id: XM_047437525   ⟹   XP_047293481
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381876,987,703 - 77,132,100 (-)NCBI
RefSeq Acc Id: XM_047437526   ⟹   XP_047293482
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381876,987,703 - 77,131,359 (-)NCBI
RefSeq Acc Id: XM_047437527   ⟹   XP_047293483
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381876,987,703 - 77,131,359 (-)NCBI
RefSeq Acc Id: XM_047437528   ⟹   XP_047293484
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381876,987,703 - 77,132,783 (-)NCBI
RefSeq Acc Id: XM_047437529   ⟹   XP_047293485
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381876,978,833 - 77,132,783 (-)NCBI
RefSeq Acc Id: XM_047437530   ⟹   XP_047293486
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381876,978,833 - 77,132,783 (-)NCBI
RefSeq Acc Id: XM_047437531   ⟹   XP_047293487
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381876,984,775 - 77,132,783 (-)NCBI
RefSeq Acc Id: XM_047437532   ⟹   XP_047293488
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381876,978,833 - 77,132,783 (-)NCBI
RefSeq Acc Id: XM_047437533   ⟹   XP_047293489
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381876,978,833 - 77,133,708 (-)NCBI
RefSeq Acc Id: XM_047437534   ⟹   XP_047293490
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381876,984,775 - 77,132,783 (-)NCBI
RefSeq Acc Id: XM_047437535   ⟹   XP_047293491
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381876,984,775 - 77,132,783 (-)NCBI
RefSeq Acc Id: XM_047437536   ⟹   XP_047293492
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381876,984,775 - 77,132,783 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001020252 (Get FASTA)   NCBI Sequence Viewer  
  NP_001020261 (Get FASTA)   NCBI Sequence Viewer  
  NP_001020263 (Get FASTA)   NCBI Sequence Viewer  
  NP_001020271 (Get FASTA)   NCBI Sequence Viewer  
  NP_001020272 (Get FASTA)   NCBI Sequence Viewer  
  NP_002376 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293477 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293478 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293479 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293480 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293481 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293482 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293483 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293484 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293485 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293486 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293487 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293488 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293489 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293490 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293491 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293492 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA59559 (Get FASTA)   NCBI Sequence Viewer  
  AAA59560 (Get FASTA)   NCBI Sequence Viewer  
  AAA59561 (Get FASTA)   NCBI Sequence Viewer  
  AAA59562 (Get FASTA)   NCBI Sequence Viewer  
  AAA59563 (Get FASTA)   NCBI Sequence Viewer  
  AAA59564 (Get FASTA)   NCBI Sequence Viewer  
  AAA72008 (Get FASTA)   NCBI Sequence Viewer  
  AAA72009 (Get FASTA)   NCBI Sequence Viewer  
  AAA72010 (Get FASTA)   NCBI Sequence Viewer  
  AAA72011 (Get FASTA)   NCBI Sequence Viewer  
  AAC41944 (Get FASTA)   NCBI Sequence Viewer  
  AAH08749 (Get FASTA)   NCBI Sequence Viewer  
  AAH65248 (Get FASTA)   NCBI Sequence Viewer  
  AAH80654 (Get FASTA)   NCBI Sequence Viewer  
  AAI01772 (Get FASTA)   NCBI Sequence Viewer  
  AAI01774 (Get FASTA)   NCBI Sequence Viewer  
  AAI43349 (Get FASTA)   NCBI Sequence Viewer  
  AAI43351 (Get FASTA)   NCBI Sequence Viewer  
  BAC85616 (Get FASTA)   NCBI Sequence Viewer  
  BAC85961 (Get FASTA)   NCBI Sequence Viewer  
  BAD92223 (Get FASTA)   NCBI Sequence Viewer  
  BAF82582 (Get FASTA)   NCBI Sequence Viewer  
  BAG53615 (Get FASTA)   NCBI Sequence Viewer  
  BAG54728 (Get FASTA)   NCBI Sequence Viewer  
  BAG54734 (Get FASTA)   NCBI Sequence Viewer  
  BAG57303 (Get FASTA)   NCBI Sequence Viewer  
  BAH12372 (Get FASTA)   NCBI Sequence Viewer  
  CAA35179 (Get FASTA)   NCBI Sequence Viewer  
  CAG38771 (Get FASTA)   NCBI Sequence Viewer  
  CAG46717 (Get FASTA)   NCBI Sequence Viewer  
  CAH10321 (Get FASTA)   NCBI Sequence Viewer  
  CAH10359 (Get FASTA)   NCBI Sequence Viewer  
  CAJ75954 (Get FASTA)   NCBI Sequence Viewer  
  CBL86565 (Get FASTA)   NCBI Sequence Viewer  
  CBX47515 (Get FASTA)   NCBI Sequence Viewer  
  CBX47516 (Get FASTA)   NCBI Sequence Viewer  
  CBX47517 (Get FASTA)   NCBI Sequence Viewer  
  CBX47518 (Get FASTA)   NCBI Sequence Viewer  
  CBX47519 (Get FASTA)   NCBI Sequence Viewer  
  CBX47520 (Get FASTA)   NCBI Sequence Viewer  
  EAW66592 (Get FASTA)   NCBI Sequence Viewer  
  EAW66593 (Get FASTA)   NCBI Sequence Viewer  
  EAW66594 (Get FASTA)   NCBI Sequence Viewer  
  EAW66595 (Get FASTA)   NCBI Sequence Viewer  
  EAW66596 (Get FASTA)   NCBI Sequence Viewer  
  EAW66597 (Get FASTA)   NCBI Sequence Viewer  
  EAW66598 (Get FASTA)   NCBI Sequence Viewer  
  EAW66599 (Get FASTA)   NCBI Sequence Viewer  
  EAW66600 (Get FASTA)   NCBI Sequence Viewer  
  P02686 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001020272   ⟸   NM_001025101
- Peptide Label: isoform 1
- UniProtKB: Q6PK23 (UniProtKB/Swiss-Prot),   P02686 (UniProtKB/Swiss-Prot),   A0A024R384 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001020263   ⟸   NM_001025092
- Peptide Label: isoform 4
- UniProtKB: P02686 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001020261   ⟸   NM_001025090
- Peptide Label: isoform 3
- UniProtKB: P02686 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002376   ⟸   NM_002385
- Peptide Label: isoform 2
- UniProtKB: P02686 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001020252   ⟸   NM_001025081
- Peptide Label: isoform 1
- UniProtKB: P02686 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001020271   ⟸   NM_001025100
- Peptide Label: isoform 2
- UniProtKB: P02686 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000462223   ⟸   ENST00000580402
RefSeq Acc Id: ENSP00000352667   ⟸   ENST00000359645
RefSeq Acc Id: ENSP00000462374   ⟸   ENST00000581878
RefSeq Acc Id: ENSP00000462758   ⟸   ENST00000583474
RefSeq Acc Id: ENSP00000463164   ⟸   ENST00000583798
RefSeq Acc Id: ENSP00000431335   ⟸   ENST00000531144
RefSeq Acc Id: ENSP00000462734   ⟸   ENST00000585201
RefSeq Acc Id: ENSP00000436951   ⟸   ENST00000493623
RefSeq Acc Id: ENSP00000434011   ⟸   ENST00000533278
RefSeq Acc Id: ENSP00000442393   ⟸   ENST00000483025
RefSeq Acc Id: ENSP00000435322   ⟸   ENST00000459948
RefSeq Acc Id: ENSP00000462780   ⟸   ENST00000577755
RefSeq Acc Id: ENSP00000437063   ⟸   ENST00000498683
RefSeq Acc Id: ENSP00000463137   ⟸   ENST00000578873
RefSeq Acc Id: ENSP00000463403   ⟸   ENST00000578193
RefSeq Acc Id: ENSP00000346545   ⟸   ENST00000354542
RefSeq Acc Id: ENSP00000435641   ⟸   ENST00000526111
RefSeq Acc Id: ENSP00000463780   ⟸   ENST00000579129
RefSeq Acc Id: ENSP00000405882   ⟸   ENST00000447114
RefSeq Acc Id: ENSP00000348273   ⟸   ENST00000355994
RefSeq Acc Id: ENSP00000435243   ⟸   ENST00000527041
RefSeq Acc Id: ENSP00000432988   ⟸   ENST00000473302
RefSeq Acc Id: ENSP00000431267   ⟸   ENST00000527975
RefSeq Acc Id: ENSP00000436830   ⟸   ENST00000528160
RefSeq Acc Id: ENSP00000372025   ⟸   ENST00000382582
RefSeq Acc Id: ENSP00000380967   ⟸   ENST00000397869
RefSeq Acc Id: ENSP00000380964   ⟸   ENST00000397866
RefSeq Acc Id: ENSP00000380963   ⟸   ENST00000397865
RefSeq Acc Id: ENSP00000380961   ⟸   ENST00000397863
RefSeq Acc Id: ENSP00000380958   ⟸   ENST00000397860
RefSeq Acc Id: ENSP00000380973   ⟸   ENST00000397875
RefSeq Acc Id: XP_047293489   ⟸   XM_047437533
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047293488   ⟸   XM_047437532
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047293486   ⟸   XM_047437530
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047293485   ⟸   XM_047437529
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047293492   ⟸   XM_047437536
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047293491   ⟸   XM_047437535
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047293490   ⟸   XM_047437534
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047293487   ⟸   XM_047437531
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047293479   ⟸   XM_047437523
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047293477   ⟸   XM_047437521
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047293484   ⟸   XM_047437528
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047293478   ⟸   XM_047437522
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047293480   ⟸   XM_047437524
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047293481   ⟸   XM_047437525
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047293483   ⟸   XM_047437527
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047293482   ⟸   XM_047437526
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P02686-F1-model_v2 AlphaFold P02686 1-304 view protein structure

Promoters
RGD ID:6811434
Promoter ID:HG_ACW:38791
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:MBP.VJAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 361872,820,486 - 72,820,987 (-)MPROMDB
RGD ID:6794924
Promoter ID:HG_KWN:28250
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC010DQZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361872,829,071 - 72,829,571 (-)MPROMDB
RGD ID:6794921
Promoter ID:HG_KWN:28251
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000267956
Position:
Human AssemblyChrPosition (strand)Source
Build 361872,850,616 - 72,851,992 (-)MPROMDB
RGD ID:6794929
Promoter ID:HG_KWN:28252
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:ENST00000397865,   ENST00000397866,   ENST00000397868,   ENST00000397875,   NM_001025090,   OTTHUMT00000267951,   OTTHUMT00000267955,   OTTHUMT00000267957,   OTTHUMT00000267958,   OTTHUMT00000267960,   OTTHUMT00000267961,   OTTHUMT00000267962,   OTTHUMT00000267963,   OTTHUMT00000267965,   UC002LML.1,   UC002LMN.1,   UC002LMP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361872,857,831 - 72,858,331 (-)MPROMDB
RGD ID:6794849
Promoter ID:HG_KWN:28253
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000397859
Position:
Human AssemblyChrPosition (strand)Source
Build 361872,909,481 - 72,910,942 (-)MPROMDB
RGD ID:6794922
Promoter ID:HG_KWN:28254
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000267953,   OTTHUMT00000267954
Position:
Human AssemblyChrPosition (strand)Source
Build 361872,928,356 - 72,929,307 (-)MPROMDB
RGD ID:6794850
Promoter ID:HG_KWN:28255
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000397863
Position:
Human AssemblyChrPosition (strand)Source
Build 361872,972,181 - 72,973,047 (-)MPROMDB
RGD ID:6794926
Promoter ID:HG_KWN:28256
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000354542,   ENST00000397860,   NM_001025101,   OTTHUMT00000267952
Position:
Human AssemblyChrPosition (strand)Source
Build 361872,973,541 - 72,974,642 (-)MPROMDB
RGD ID:6794920
Promoter ID:HG_KWN:28257
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   NB4
Transcripts:OTTHUMT00000267949,   OTTHUMT00000267950
Position:
Human AssemblyChrPosition (strand)Source
Build 361872,974,919 - 72,975,419 (-)MPROMDB
RGD ID:7237631
Promoter ID:EPDNEW_H24560
Type:initiation region
Name:MBP_2
Description:myelin basic protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24561  EPDNEW_H24562  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381877,017,055 - 77,017,115EPDNEW
RGD ID:7237629
Promoter ID:EPDNEW_H24561
Type:initiation region
Name:MBP_1
Description:myelin basic protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24560  EPDNEW_H24562  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381877,132,783 - 77,132,843EPDNEW
RGD ID:7237633
Promoter ID:EPDNEW_H24562
Type:initiation region
Name:MBP_3
Description:myelin basic protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24561  EPDNEW_H24560  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381877,133,708 - 77,133,768EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18q22.1-23(chr18:64950938-80252149)x1 copy number loss See cases [RCV000050985] Chr18:64950938..80252149 [GRCh38]
Chr18:62618174..78010032 [GRCh37]
Chr18:60769154..76111023 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 copy number gain See cases [RCV000050989] Chr18:50068129..80252149 [GRCh38]
Chr18:47594499..78010032 [GRCh37]
Chr18:45848497..76111023 [NCBI36]
Chr18:18q21.1-23
pathogenic
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1 copy number loss See cases [RCV000051032] Chr18:56618038..80252149 [GRCh38]
Chr18:54285269..78010032 [GRCh37]
Chr18:52436267..76111023 [NCBI36]
Chr18:18q21.31-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.33-23(chr18:63195579-80234429)x3 copy number gain See cases [RCV000052572] Chr18:63195579..80234429 [GRCh38]
Chr18:60862812..77992312 [GRCh37]
Chr18:59013792..76093303 [NCBI36]
Chr18:18q21.33-23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:64747528-80252290)x3 copy number gain See cases [RCV000052573] Chr18:64747528..80252290 [GRCh38]
Chr18:62414764..78010173 [GRCh37]
Chr18:60565744..76111164 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q22.3-23(chr18:75300296-80252149)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052574]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052574]|See cases [RCV000052574] Chr18:75300296..80252149 [GRCh38]
Chr18:73012251..78010032 [GRCh37]
Chr18:71141239..76111023 [NCBI36]
Chr18:18q22.3-23
pathogenic
GRCh38/hg38 18q23(chr18:77032666-77548627)x3 copy number gain See cases [RCV000054103] Chr18:77032666..77548627 [GRCh38]
Chr18:74744622..75260583 [GRCh37]
Chr18:72873610..73389571 [NCBI36]
Chr18:18q23
uncertain significance
GRCh38/hg38 18q23(chr18:77032666-77675655)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054104]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054104]|See cases [RCV000054104] Chr18:77032666..77675655 [GRCh38]
Chr18:74744622..75387611 [GRCh37]
Chr18:72873610..73516599 [NCBI36]
Chr18:18q23
uncertain significance
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|See cases [RCV000053869] Chr18:53637007..80252149 [GRCh38]
Chr18:51163377..78010032 [GRCh37]
Chr18:49417375..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1 copy number loss See cases [RCV000053873] Chr18:56353040..80209986 [GRCh38]
Chr18:54020271..77967869 [GRCh37]
Chr18:52171269..76068860 [NCBI36]
Chr18:18q21.31-23
pathogenic
GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1 copy number loss See cases [RCV000053875] Chr18:62999696..80209986 [GRCh38]
Chr18:60666929..77967869 [GRCh37]
Chr18:58817909..76068860 [NCBI36]
Chr18:18q21.33-23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:63988650-80252149)x1 copy number loss See cases [RCV000053876] Chr18:63988650..80252149 [GRCh38]
Chr18:61655884..78010032 [GRCh37]
Chr18:59806864..76111023 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:67078720-77675655)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053903]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053903]|See cases [RCV000053903] Chr18:67078720..77675655 [GRCh38]
Chr18:64745957..75387611 [GRCh37]
Chr18:62896937..73516599 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q22.2-23(chr18:69288245-80252149)x1 copy number loss See cases [RCV000053905] Chr18:69288245..80252149 [GRCh38]
Chr18:66955481..78010032 [GRCh37]
Chr18:65106461..76111023 [NCBI36]
Chr18:18q22.2-23
pathogenic
GRCh38/hg38 18q22.3-23(chr18:74207209-79351148)x1 copy number loss See cases [RCV000053906] Chr18:74207209..79351148 [GRCh38]
Chr18:71874444..77111148 [GRCh37]
Chr18:70025424..75212136 [NCBI36]
Chr18:18q22.3-23
pathogenic
GRCh38/hg38 18q23(chr18:75843868-80209986)x1 copy number loss See cases [RCV000053907] Chr18:75843868..80209986 [GRCh38]
Chr18:73555823..77967869 [GRCh37]
Chr18:71684811..76068860 [NCBI36]
Chr18:18q23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|See cases [RCV000053834] Chr18:51605752..80252149 [GRCh38]
Chr18:49132122..78010032 [GRCh37]
Chr18:47386120..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q23(chr18:74241380-78013620)x1 copy number loss See cases [RCV000184081] Chr18:74241380..78013620 [GRCh37]
Chr18:18q23
pathogenic
GRCh38/hg38 18q22.2-23(chr18:69200589-80252149)x1 copy number loss See cases [RCV000133824] Chr18:69200589..80252149 [GRCh38]
Chr18:66867826..78010032 [GRCh37]
Chr18:65018806..76111023 [NCBI36]
Chr18:18q22.2-23
pathogenic
GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1 copy number loss See cases [RCV000133689] Chr18:59567681..80252149 [GRCh38]
Chr18:57234913..78010032 [GRCh37]
Chr18:55385893..76111023 [NCBI36]
Chr18:18q21.32-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q22.3-23(chr18:71067804-80252149)x1 copy number loss See cases [RCV000135818] Chr18:71067804..80252149 [GRCh38]
Chr18:68735040..78010032 [GRCh37]
Chr18:66886020..76111023 [NCBI36]
Chr18:18q22.3-23
pathogenic
GRCh38/hg38 18q21.33-23(chr18:63306200-80252149)x1 copy number loss See cases [RCV000135838] Chr18:63306200..80252149 [GRCh38]
Chr18:60973433..78010032 [GRCh37]
Chr18:59124413..76111023 [NCBI36]
Chr18:18q21.33-23
pathogenic
GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1 copy number loss See cases [RCV000135616] Chr18:61576009..80252149 [GRCh38]
Chr18:59243242..78010032 [GRCh37]
Chr18:57394222..76111023 [NCBI36]
Chr18:18q21.33-23
pathogenic
GRCh38/hg38 18q22.3-23(chr18:72426712-80252149)x1 copy number loss See cases [RCV000135539] Chr18:72426712..80252149 [GRCh38]
Chr18:70093947..78010032 [GRCh37]
Chr18:68244927..76111023 [NCBI36]
Chr18:18q22.3-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1 copy number loss See cases [RCV000135413] Chr18:51190429..80252149 [GRCh38]
Chr18:48716799..78010032 [GRCh37]
Chr18:46970797..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1 copy number loss See cases [RCV000135567] Chr18:61827111..80252149 [GRCh38]
Chr18:59494344..78010032 [GRCh37]
Chr18:57645324..76111023 [NCBI36]
Chr18:18q21.33-23
pathogenic|uncertain significance
GRCh38/hg38 18q22.1-23(chr18:67772576-80252149)x1 copy number loss See cases [RCV000136555] Chr18:67772576..80252149 [GRCh38]
Chr18:65439813..78010032 [GRCh37]
Chr18:63590793..76111023 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:68417596-80252149)x1 copy number loss See cases [RCV000136122] Chr18:68417596..80252149 [GRCh38]
Chr18:66084833..78010032 [GRCh37]
Chr18:64235813..76111023 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q23(chr18:75988877-80252149)x1 copy number loss See cases [RCV000136899] Chr18:75988877..80252149 [GRCh38]
Chr18:73700832..78010032 [GRCh37]
Chr18:71829820..76111023 [NCBI36]
Chr18:18q23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:65693588-80252149)x1 copy number loss See cases [RCV000136911] Chr18:65693588..80252149 [GRCh38]
Chr18:63360824..78010032 [GRCh37]
Chr18:61511804..76111023 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q23(chr18:77032666-78047782)x3 copy number gain See cases [RCV000136925] Chr18:77032666..78047782 [GRCh38]
Chr18:74744622..75807782 [GRCh37]
Chr18:72873610..73908770 [NCBI36]
Chr18:18q23
uncertain significance
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23
pathogenic
GRCh38/hg38 18q23(chr18:75424051-80224243)x1 copy number loss See cases [RCV000136774] Chr18:75424051..80224243 [GRCh38]
Chr18:73136006..77982126 [GRCh37]
Chr18:71264994..76083117 [NCBI36]
Chr18:18q23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1 copy number loss See cases [RCV000136674] Chr18:53865057..80252149 [GRCh38]
Chr18:51391427..78010032 [GRCh37]
Chr18:49645425..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:68830234-80254946)x1 copy number loss See cases [RCV000137431] Chr18:68830234..80254946 [GRCh38]
Chr18:66497471..78012829 [GRCh37]
Chr18:64648451..76113817 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:65658824-80254946)x1 copy number loss See cases [RCV000137598] Chr18:65658824..80254946 [GRCh38]
Chr18:63326060..78012829 [GRCh37]
Chr18:61477040..76113817 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 copy number gain See cases [RCV000137342] Chr18:49199411..80254946 [GRCh38]
Chr18:46725781..78012829 [GRCh37]
Chr18:44979779..76113817 [NCBI36]
Chr18:18q21.1-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1 copy number loss See cases [RCV000137375] Chr18:55179364..80254946 [GRCh38]
Chr18:52846595..78012829 [GRCh37]
Chr18:50997593..76113817 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:68563422-80254946)x1 copy number loss See cases [RCV000137379] Chr18:68563422..80254946 [GRCh38]
Chr18:66230659..78012829 [GRCh37]
Chr18:64381639..76113817 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:66190016-80254946)x1 copy number loss See cases [RCV000137808] Chr18:66190016..80254946 [GRCh38]
Chr18:63857253..78012829 [GRCh37]
Chr18:62008233..76113817 [NCBI36]
Chr18:18q22.1-23
pathogenic|likely pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23
pathogenic|conflicting data from submitters
GRCh38/hg38 18q22.1-23(chr18:64747728-80254946)x1 copy number loss See cases [RCV000138707] Chr18:64747728..80254946 [GRCh38]
Chr18:62414964..78012829 [GRCh37]
Chr18:60565944..76113817 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x3 copy number gain See cases [RCV000138718] Chr18:73332839..80254946 [GRCh38]
Chr18:71000074..78012829 [GRCh37]
Chr18:69151054..76113817 [NCBI36]
Chr18:18q22.3-23
pathogenic
GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x1 copy number loss See cases [RCV000138719] Chr18:73332839..80254946 [GRCh38]
Chr18:71000074..78012829 [GRCh37]
Chr18:69151054..76113817 [NCBI36]
Chr18:18q22.3-23
pathogenic
GRCh38/hg38 18q22.3-23(chr18:72043906-80254936)x1 copy number loss See cases [RCV000138491] Chr18:72043906..80254936 [GRCh38]
Chr18:69711141..78012819 [GRCh37]
Chr18:67862121..76113807 [NCBI36]
Chr18:18q22.3-23
pathogenic
GRCh38/hg38 18q22.2-23(chr18:69650802-80254946)x1 copy number loss See cases [RCV000138248] Chr18:69650802..80254946 [GRCh38]
Chr18:67318038..78012829 [GRCh37]
Chr18:65469018..76113817 [NCBI36]
Chr18:18q22.2-23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:66649227-80254936)x1 copy number loss See cases [RCV000138638] Chr18:66649227..80254936 [GRCh38]
Chr18:64316464..78012819 [GRCh37]
Chr18:62467444..76113807 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q22.3-23(chr18:71872883-80254946)x3 copy number gain See cases [RCV000139457] Chr18:71872883..80254946 [GRCh38]
Chr18:69540119..78012829 [GRCh37]
Chr18:67691099..76113817 [NCBI36]
Chr18:18q22.3-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1 copy number loss See cases [RCV000139134] Chr18:52421052..80254946 [GRCh38]
Chr18:49947422..78012829 [GRCh37]
Chr18:48201420..76113817 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3 copy number gain See cases [RCV000139496] Chr18:53959828..80254936 [GRCh38]
Chr18:51486198..78012819 [GRCh37]
Chr18:49740196..76113807 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1 copy number loss See cases [RCV000139669] Chr18:59996934..80254946 [GRCh38]
Chr18:57664166..78012829 [GRCh37]
Chr18:55815146..76113817 [NCBI36]
Chr18:18q21.32-23
pathogenic
GRCh38/hg38 18q21.33-23(chr18:63756916-80254946)x1 copy number loss See cases [RCV000139464] Chr18:63756916..80254946 [GRCh38]
Chr18:61424150..78012829 [GRCh37]
Chr18:59575130..76113817 [NCBI36]
Chr18:18q21.33-23
pathogenic
GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1 copy number loss See cases [RCV000141429] Chr18:61613338..80252090 [GRCh38]
Chr18:59280571..78009973 [GRCh37]
Chr18:57431551..76110964 [NCBI36]
Chr18:18q21.33-23
pathogenic
GRCh38/hg38 18q23(chr18:75875505-80252090)x1 copy number loss See cases [RCV000141361] Chr18:75875505..80252090 [GRCh38]
Chr18:73587460..78009973 [GRCh37]
Chr18:71716448..76110964 [NCBI36]
Chr18:18q23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:68340002-80256240)x1 copy number loss See cases [RCV000140899] Chr18:68340002..80256240 [GRCh38]
Chr18:66007239..78014123 [GRCh37]
Chr18:64158219..76115097 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 copy number loss See cases [RCV000140925] Chr18:51167159..80256240 [GRCh38]
Chr18:48693529..78014123 [GRCh37]
Chr18:46947527..76115097 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q23(chr18:75946906-80252149)x1 copy number loss See cases [RCV000142371] Chr18:75946906..80252149 [GRCh38]
Chr18:73658861..78010032 [GRCh37]
Chr18:71787849..76111023 [NCBI36]
Chr18:18q23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:66456349-80256240)x1 copy number loss See cases [RCV000142176] Chr18:66456349..80256240 [GRCh38]
Chr18:64123586..78014123 [GRCh37]
Chr18:62274566..76115097 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:67686362-80252149)x3 copy number gain See cases [RCV000142689] Chr18:67686362..80252149 [GRCh38]
Chr18:65353599..78010032 [GRCh37]
Chr18:63504579..76111023 [NCBI36]
Chr18:18q22.1-23
pathogenic|likely pathogenic
GRCh38/hg38 18q23(chr18:76635470-80252149)x1 copy number loss See cases [RCV000142580] Chr18:76635470..80252149 [GRCh38]
Chr18:74347427..78010032 [GRCh37]
Chr18:72476415..76111023 [NCBI36]
Chr18:18q23
pathogenic
GRCh38/hg38 18q22.3-23(chr18:72639340-80254946)x1 copy number loss See cases [RCV000143196] Chr18:72639340..80254946 [GRCh38]
Chr18:70306575..78012829 [GRCh37]
Chr18:68457555..76113817 [NCBI36]
Chr18:18q22.3-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q22.1-23(chr18:68857904-80256240)x1 copy number loss See cases [RCV000143557] Chr18:68857904..80256240 [GRCh38]
Chr18:66525141..78014123 [GRCh37]
Chr18:64676121..76115097 [NCBI36]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23
pathogenic
GRCh37/hg19 18q21.32-23(chr18:58525322-78005236)x3 copy number gain See cases [RCV000240296] Chr18:58525322..78005236 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q22.3-23(chr18:71078132-78005236)x3 copy number gain See cases [RCV000240461] Chr18:71078132..78005236 [GRCh37]
Chr18:18q22.3-23
pathogenic
NC_000018.9:g.73376178_78077248del4701071 copy number loss Burn-McKeown syndrome [RCV000239622] Chr18:73376178..78077248 [GRCh37] pathogenic
GRCh37/hg19 18q21.33-23(chr18:59461447-78010032)x1 copy number loss not provided [RCV000416006] Chr18:59461447..78010032 [GRCh37]
Chr18:18q21.33-23
likely pathogenic
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123)x1 copy number loss See cases [RCV000449163] Chr18:59332806..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18q22.1-23(chr18:65648458-78005185)x1 copy number loss See cases [RCV000446791] Chr18:65648458..78005185 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18q23(chr18:74708548-74753950)x1 copy number loss See cases [RCV000446322] Chr18:74708548..74753950 [GRCh37]
Chr18:18q23
uncertain significance
GRCh37/hg19 18q23(chr18:74807008-75634258)x3 copy number gain See cases [RCV000446600] Chr18:74807008..75634258 [GRCh37]
Chr18:18q23
uncertain significance
GRCh37/hg19 18q22.1-23(chr18:66593317-78014123)x1 copy number loss See cases [RCV000447117] Chr18:66593317..78014123 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:60641553-78014123)x1 copy number loss See cases [RCV000447127] Chr18:60641553..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18q23(chr18:74064964-78014123)x3 copy number gain See cases [RCV000447136] Chr18:74064964..78014123 [GRCh37]
Chr18:18q23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:60796196-78014123)x1 copy number loss See cases [RCV000446171] Chr18:60796196..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18q23(chr18:74347427-75077574)x3 copy number gain See cases [RCV000446195] Chr18:74347427..75077574 [GRCh37]
Chr18:18q23
likely pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1 copy number loss See cases [RCV000510720] Chr18:50224898..78014123 [GRCh37]
Chr18:18q21.2-23
likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1 copy number loss See cases [RCV000445943] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1 copy number loss See cases [RCV000447931] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1 copy number loss See cases [RCV000448656] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1 copy number loss See cases [RCV000512059] Chr18:54462182..78014123 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3 copy number gain See cases [RCV000510655] Chr18:47454437..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:59809990-78014123)x1 copy number loss See cases [RCV000510685] Chr18:59809990..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q23(chr18:74673394-76127279)x3 copy number gain See cases [RCV000511341] Chr18:74673394..76127279 [GRCh37]
Chr18:18q23
uncertain significance
GRCh37/hg19 18q22.1-23(chr18:64524888-78014123)x1 copy number loss See cases [RCV000511752] Chr18:64524888..78014123 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23
pathogenic
GRCh37/hg19 18q22.3-23(chr18:70340543-78014123)x1 copy number loss See cases [RCV000511232] Chr18:70340543..78014123 [GRCh37]
Chr18:18q22.3-23
pathogenic
GRCh37/hg19 18q23(chr18:74251369-74796830)x3 copy number gain See cases [RCV000510781] Chr18:74251369..74796830 [GRCh37]
Chr18:18q23
uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q22.1-23(chr18:66625843-78014123)x1 copy number loss See cases [RCV000510824] Chr18:66625843..78014123 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:59876469-78014123)x1 copy number loss See cases [RCV000511105] Chr18:59876469..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
NC_000018.9:g.73376178_78077248del4701071 deletion Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome [RCV000239622] Chr18:73376178..78077248 [GRCh37]
Chr18:18q23
pathogenic
Single allele deletion Deletion of long arm of chromosome 18 [RCV000768454] Chr18:58024137..77996821 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q22.1-23(chr18:61802304-78015180)x1 copy number loss See cases [RCV000515583] Chr18:61802304..78015180 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18q22.1-23(chr18:61673145-78014123)x1 copy number loss See cases [RCV000512607] Chr18:61673145..78014123 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18q22.2-23(chr18:67431406-78014123)x1 copy number loss See cases [RCV000512218] Chr18:67431406..78014123 [GRCh37]
Chr18:18q22.2-23
pathogenic
GRCh37/hg19 18q22.1-23(chr18:66593317-78014123)x1 copy number loss See cases [RCV000512281] Chr18:66593317..78014123 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23
pathogenic
GRCh37/hg19 18q21.32-23(chr18:58768873-78014123)x1 copy number loss See cases [RCV000512579] Chr18:58768873..78014123 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:60416709-78014123)x1 copy number loss not provided [RCV000684055] Chr18:60416709..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18q22.3-23(chr18:69968033-78014123)x1 copy number loss not provided [RCV000684045] Chr18:69968033..78014123 [GRCh37]
Chr18:18q22.3-23
pathogenic
GRCh37/hg19 18q22.1-23(chr18:64764747-78014123)x1 copy number loss not provided [RCV000684049] Chr18:64764747..78014123 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18q22.1-23(chr18:64610595-78014123)x1 copy number loss not provided [RCV000684050] Chr18:64610595..78014123 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1 copy number loss not provided [RCV000684058] Chr18:56905884..78014123 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 copy number loss not provided [RCV000684060] Chr18:46942427..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q23(chr18:74472294-78014123)x3 copy number gain not provided [RCV000684039] Chr18:74472294..78014123 [GRCh37]
Chr18:18q23
pathogenic
GRCh37/hg19 18q23(chr18:73214538-78014123)x1 copy number loss not provided [RCV000684042] Chr18:73214538..78014123 [GRCh37]
Chr18:18q23
pathogenic|likely pathogenic
GRCh37/hg19 18q22.2-23(chr18:67082104-78014123)x1 copy number loss not provided [RCV000684047] Chr18:67082104..78014123 [GRCh37]
Chr18:18q22.2-23
pathogenic
GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1 copy number loss not provided [RCV000684059] Chr18:55298900..78014123 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q23(chr18:74696807-74967869)x3 copy number gain not provided [RCV000683989] Chr18:74696807..74967869 [GRCh37]
Chr18:18q23
likely benign
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1 copy number loss not provided [RCV000739824] Chr18:52802515..78015180 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q22.1-23(chr18:64232938-75262263)x1 copy number loss not provided [RCV000739850] Chr18:64232938..75262263 [GRCh37]
Chr18:18q22.1-23
benign
GRCh37/hg19 18q22.2-23(chr18:68552596-78015180)x1 copy number loss not provided [RCV000739867] Chr18:68552596..78015180 [GRCh37]
Chr18:18q22.2-23
pathogenic
GRCh37/hg19 18q23(chr18:74285842-78010032)x1 copy number loss not provided [RCV000762707] Chr18:74285842..78010032 [GRCh37]
Chr18:18q23
uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q22.3-23(chr18:70212733-78014123)x1 copy number loss not provided [RCV001007022] Chr18:70212733..78014123 [GRCh37]
Chr18:18q22.3-23
pathogenic
GRCh37/hg19 18q21.32-23(chr18:57244903-77325446)x1 copy number loss not provided [RCV000752356] Chr18:57244903..77325446 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:59585959-78015180)x1 copy number loss not provided [RCV000752366] Chr18:59585959..78015180 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18q23(chr18:73528968-78015180)x1 copy number loss not provided [RCV000752412] Chr18:73528968..78015180 [GRCh37]
Chr18:18q23
pathogenic
NM_001025101.2(MBP):c.601G>A (p.Ala201Thr) single nucleotide variant not provided [RCV000947889] Chr18:76990036 [GRCh38]
Chr18:74701992 [GRCh37]
Chr18:18q23
benign
NM_001025101.2(MBP):c.243C>T (p.His81=) single nucleotide variant not provided [RCV000902684] Chr18:77017165 [GRCh38]
Chr18:74729121 [GRCh37]
Chr18:18q23
likely benign
Single allele deletion Intestinal malrotation [RCV000754988] Chr18:64876751..78015117 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1 copy number loss not provided [RCV001007017] Chr18:55458425..78014123 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q22.1-23(chr18:63247046-78014123)x1 copy number loss not provided [RCV001007020] Chr18:63247046..78014123 [GRCh37]
Chr18:18q22.1-23
pathogenic
NM_001025101.2(MBP):c.507G>A (p.Thr169=) single nucleotide variant not provided [RCV000919418] Chr18:77016901 [GRCh38]
Chr18:74728857 [GRCh37]
Chr18:18q23
likely benign
NM_001025101.2(MBP):c.391C>T (p.Leu131=) single nucleotide variant not provided [RCV000918470] Chr18:77017017 [GRCh38]
Chr18:74728973 [GRCh37]
Chr18:18q23
benign
NM_001025101.2(MBP):c.657C>T (p.Pro219=) single nucleotide variant not provided [RCV000959488] Chr18:76989980 [GRCh38]
Chr18:74701936 [GRCh37]
Chr18:18q23
benign
GRCh37/hg19 18q23(chr18:74755953-75630702)x4 copy number gain not provided [RCV000846876] Chr18:74755953..75630702 [GRCh37]
Chr18:18q23
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787397] Chr18:62984563..78015117 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18q22.3-23(chr18:70011110-78014123)x1 copy number loss not provided [RCV000847255] Chr18:70011110..78014123 [GRCh37]
Chr18:18q22.3-23
pathogenic
GRCh37/hg19 18q23(chr18:73158604-78015180)x1 copy number loss See cases [RCV001007418] Chr18:73158604..78015180 [GRCh37]
Chr18:18q23
pathogenic
GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1 copy number loss not provided [RCV001007018] Chr18:56750525..78014123 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:60098018-78014123)x1 copy number loss not provided [RCV001007019] Chr18:60098018..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18q22.3-23(chr18:70011110-78014123)x1 copy number loss not provided [RCV000847258] Chr18:70011110..78014123 [GRCh37]
Chr18:18q22.3-23
pathogenic
NM_001025101.2(MBP):c.750+9C>T single nucleotide variant not provided [RCV000936640] Chr18:76988486 [GRCh38]
Chr18:74700442 [GRCh37]
Chr18:18q23
likely benign
GRCh37/hg19 18q22.2-23(chr18:67551299-78014123)x1 copy number loss not provided [RCV001007021] Chr18:67551299..78014123 [GRCh37]
Chr18:18q22.2-23
pathogenic
GRCh37/hg19 18q23(chr18:74755953-75641227)x4 copy number gain not provided [RCV000846998] Chr18:74755953..75641227 [GRCh37]
Chr18:18q23
uncertain significance
NM_001025101.2(MBP):c.888C>T (p.Arg296=) single nucleotide variant not provided [RCV000933549] Chr18:76980454 [GRCh38]
Chr18:74692410 [GRCh37]
Chr18:18q23
likely benign
NM_001025101.2(MBP):c.877A>C (p.Arg293=) single nucleotide variant not provided [RCV000913734] Chr18:76980465 [GRCh38]
Chr18:74692421 [GRCh37]
Chr18:18q23
likely benign
NM_001025101.2(MBP):c.867G>A (p.Lys289=) single nucleotide variant not provided [RCV000934222] Chr18:76984778 [GRCh38]
Chr18:74696734 [GRCh37]
Chr18:18q23
likely benign
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1 copy number loss not provided [RCV001007016] Chr18:49460596..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q22.3-23(chr18:70383594-78014123)x1 copy number loss not provided [RCV001007023] Chr18:70383594..78014123 [GRCh37]
Chr18:18q22.3-23
pathogenic
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23
pathogenic
GRCh37/hg19 18q22.3-23(chr18:70835154-78014123)x1 copy number loss not provided [RCV001259363] Chr18:70835154..78014123 [GRCh37]
Chr18:18q22.3-23
pathogenic
GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1 copy number loss not provided [RCV001531449] Chr18:54285235..77960815 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q22.1-23(chr18:63747519-78014123)x3 copy number gain not provided [RCV001259360] Chr18:63747519..78014123 [GRCh37]
Chr18:18q22.1-23
likely pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Complete trisomy 18 syndrome [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23
pathogenic
Single allele deletion Deletion of long arm of chromosome 18 [RCV002280357] Chr18:61490305..80247612 [GRCh38]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032) copy number gain Global developmental delay [RCV001352665] Chr18:51925586..78010032 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:53309113-78014123) copy number loss not specified [RCV002052646] Chr18:53309113..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q23(chr18:74807008-75634258) copy number gain not specified [RCV002052664] Chr18:74807008..75634258 [GRCh37]
Chr18:18q23
uncertain significance
GRCh37/hg19 18q21.32-23(chr18:58305972-78014123) copy number loss not specified [RCV002052647] Chr18:58305972..78014123 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q22.1-23(chr18:64340599-77273893) copy number loss not specified [RCV002052652] Chr18:64340599..77273893 [GRCh37]
Chr18:18q22.1-23
pathogenic
GRCh37/hg19 18q22.2-23(chr18:68585785-74978794)x1 copy number loss not provided [RCV001827682] Chr18:68585785..74978794 [GRCh37]
Chr18:18q22.2-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52675201-78014123) copy number loss not specified [RCV002052641] Chr18:52675201..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123) copy number loss not specified [RCV002052636] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426) copy number loss not specified [RCV002052642] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123) copy number loss not specified [RCV002052643] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q23(chr18:74754089-75625247)x3 copy number gain not provided [RCV001834441] Chr18:74754089..75625247 [GRCh37]
Chr18:18q23
likely benign
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123) copy number loss not specified [RCV002052649] Chr18:59332806..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q22.3-23(chr18:70333866-78014123) copy number loss not specified [RCV002052662] Chr18:70333866..78014123 [GRCh37]
Chr18:18q22.3-23
pathogenic
GRCh37/hg19 18q23(chr18:74708548-74753950) copy number loss not specified [RCV002052663] Chr18:74708548..74753950 [GRCh37]
Chr18:18q23
uncertain significance
Single allele deletion Pulmonary valve stenosis [RCV002247713] Chr18:69541066..80373285 [GRCh38]
Chr18:18q22.2-23
pathogenic
GRCh37/hg19 18q22.3-23(chr18:72669936-77889946)x1 copy number loss See cases [RCV002293965] Chr18:72669936..77889946 [GRCh37]
Chr18:18q22.3-23
pathogenic
GRCh37/hg19 18q21.33-23(chr18:61289055-78014123) copy number loss Deletion of long arm of chromosome 18 [RCV002280712] Chr18:61289055..78014123 [GRCh37]
Chr18:18q21.33-23
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6925 AgrOrtholog
COSMIC MBP COSMIC
Ensembl Genes ENSG00000197971 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000346545.4 UniProtKB/TrEMBL
  ENSP00000348273 ENTREZGENE
  ENSP00000348273.2 UniProtKB/Swiss-Prot
  ENSP00000352667 ENTREZGENE
  ENSP00000352667.3 UniProtKB/Swiss-Prot
  ENSP00000372025 ENTREZGENE
  ENSP00000372025.3 UniProtKB/Swiss-Prot
  ENSP00000380958 ENTREZGENE
  ENSP00000380958.3 UniProtKB/Swiss-Prot
  ENSP00000380961.1 UniProtKB/Swiss-Prot
  ENSP00000380963 ENTREZGENE
  ENSP00000380963.5 UniProtKB/Swiss-Prot
  ENSP00000380964 ENTREZGENE
  ENSP00000380964.4 UniProtKB/Swiss-Prot
  ENSP00000380967.3 UniProtKB/TrEMBL
  ENSP00000380973.3 UniProtKB/TrEMBL
  ENSP00000405882.1 UniProtKB/TrEMBL
  ENSP00000431267.1 UniProtKB/TrEMBL
  ENSP00000431335.1 UniProtKB/TrEMBL
  ENSP00000432988.1 UniProtKB/TrEMBL
  ENSP00000434011.1 UniProtKB/TrEMBL
  ENSP00000435243.1 UniProtKB/TrEMBL
  ENSP00000435322.1 UniProtKB/TrEMBL
  ENSP00000435641.1 UniProtKB/TrEMBL
  ENSP00000436830.1 UniProtKB/TrEMBL
  ENSP00000436951.1 UniProtKB/TrEMBL
  ENSP00000437063.1 UniProtKB/TrEMBL
  ENSP00000442393.1 UniProtKB/TrEMBL
  ENSP00000462223.1 UniProtKB/Swiss-Prot
  ENSP00000462374.1 UniProtKB/TrEMBL
  ENSP00000462734.1 UniProtKB/TrEMBL
  ENSP00000462758.1 UniProtKB/TrEMBL
  ENSP00000462780.1 UniProtKB/TrEMBL
  ENSP00000463137.1 UniProtKB/TrEMBL
  ENSP00000463164.1 UniProtKB/TrEMBL
  ENSP00000463403.1 UniProtKB/TrEMBL
  ENSP00000463780 ENTREZGENE
  ENSP00000463780.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000354542.4 UniProtKB/TrEMBL
  ENST00000355994 ENTREZGENE
  ENST00000355994.7 UniProtKB/Swiss-Prot
  ENST00000359645 ENTREZGENE
  ENST00000359645.7 UniProtKB/Swiss-Prot
  ENST00000382582 ENTREZGENE
  ENST00000382582.7 UniProtKB/Swiss-Prot
  ENST00000397860 ENTREZGENE
  ENST00000397860.7 UniProtKB/Swiss-Prot
  ENST00000397863.5 UniProtKB/Swiss-Prot
  ENST00000397865 ENTREZGENE
  ENST00000397865.9 UniProtKB/Swiss-Prot
  ENST00000397866 ENTREZGENE
  ENST00000397866.8 UniProtKB/Swiss-Prot
  ENST00000397869.7 UniProtKB/TrEMBL
  ENST00000397875.7 UniProtKB/TrEMBL
  ENST00000447114.5 UniProtKB/TrEMBL
  ENST00000459948.1 UniProtKB/TrEMBL
  ENST00000473302.5 UniProtKB/TrEMBL
  ENST00000483025.5 UniProtKB/TrEMBL
  ENST00000493623.5 UniProtKB/TrEMBL
  ENST00000498683.2 UniProtKB/TrEMBL
  ENST00000526111.5 UniProtKB/TrEMBL
  ENST00000527041.1 UniProtKB/TrEMBL
  ENST00000527975.5 UniProtKB/TrEMBL
  ENST00000528160.1 UniProtKB/TrEMBL
  ENST00000531144.5 UniProtKB/TrEMBL
  ENST00000533278.5 UniProtKB/TrEMBL
  ENST00000577755.5 UniProtKB/TrEMBL
  ENST00000578193.5 UniProtKB/TrEMBL
  ENST00000578873.5 UniProtKB/TrEMBL
  ENST00000579129 ENTREZGENE
  ENST00000579129.5 UniProtKB/TrEMBL
  ENST00000580402.5 UniProtKB/Swiss-Prot
  ENST00000581878.5 UniProtKB/TrEMBL
  ENST00000583474.5 UniProtKB/TrEMBL
  ENST00000583798.1 UniProtKB/TrEMBL
  ENST00000585201.5 UniProtKB/TrEMBL
GTEx ENSG00000197971 GTEx
HGNC ID HGNC:6925 ENTREZGENE
Human Proteome Map MBP Human Proteome Map
InterPro Myelin_BP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4155 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4155 ENTREZGENE
OMIM 159430 OMIM
PANTHER PTHR11429 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Myelin_MBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30667 PharmGKB
PRINTS MYELINMBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE MYELIN_MBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R384 ENTREZGENE, UniProtKB/TrEMBL
  A8MZH3_HUMAN UniProtKB/TrEMBL
  C9J6H1_HUMAN UniProtKB/TrEMBL
  E9PJ72_HUMAN UniProtKB/TrEMBL
  E9PKX9_HUMAN UniProtKB/TrEMBL
  E9PLQ9_HUMAN UniProtKB/TrEMBL
  E9PLU9_HUMAN UniProtKB/TrEMBL
  E9PMR5_HUMAN UniProtKB/TrEMBL
  E9PNZ1_HUMAN UniProtKB/TrEMBL
  E9PQE7_HUMAN UniProtKB/TrEMBL
  E9PSE2_HUMAN UniProtKB/TrEMBL
  F5H7N4_HUMAN UniProtKB/TrEMBL
  F8WEU6_HUMAN UniProtKB/TrEMBL
  H0YEA2_HUMAN UniProtKB/TrEMBL
  H0YF02_HUMAN UniProtKB/TrEMBL
  H7BYR8_HUMAN UniProtKB/TrEMBL
  J3KS94_HUMAN UniProtKB/TrEMBL
  J3KT01_HUMAN UniProtKB/TrEMBL
  J3KT34_HUMAN UniProtKB/TrEMBL
  J3QKL5_HUMAN UniProtKB/TrEMBL
  J3QKN5_HUMAN UniProtKB/TrEMBL
  J3QL64_HUMAN UniProtKB/TrEMBL
  J3QQK6_HUMAN UniProtKB/TrEMBL
  MBP_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6PK23 ENTREZGENE
UniProt Secondary A4FU54 UniProtKB/Swiss-Prot
  A6NI84 UniProtKB/Swiss-Prot
  A8MY86 UniProtKB/Swiss-Prot
  A8MYL4 UniProtKB/Swiss-Prot
  B3KY66 UniProtKB/Swiss-Prot
  B7ZKS2 UniProtKB/Swiss-Prot
  B7ZKS4 UniProtKB/Swiss-Prot
  Q15337 UniProtKB/Swiss-Prot
  Q15338 UniProtKB/Swiss-Prot
  Q15339 UniProtKB/Swiss-Prot
  Q15340 UniProtKB/Swiss-Prot
  Q59GX3 UniProtKB/Swiss-Prot
  Q65ZS4 UniProtKB/Swiss-Prot
  Q6AI64 UniProtKB/Swiss-Prot
  Q6FH37 UniProtKB/Swiss-Prot
  Q6FI04 UniProtKB/Swiss-Prot
  Q6PK23 UniProtKB/Swiss-Prot