MEF2C (myocyte enhancer factor 2C) - Rat Genome Database

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Gene: MEF2C (myocyte enhancer factor 2C) Homo sapiens
Analyze
Symbol: MEF2C
Name: myocyte enhancer factor 2C
RGD ID: 1349172
HGNC Page HGNC
Description: Enables several functions, including DNA binding activity; DNA-binding transcription activator activity, RNA polymerase II-specific; and protein heterodimerization activity. Involved in several processes, including negative regulation of cell migration; positive regulation of cell differentiation; and regulation of transcription by RNA polymerase II. Located in cytoplasm and nuclear speck. Part of protein-containing complex. Implicated in autosomal dominant mental retardation 20.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C5DELq14.3; DEL5q14.3; MADS box transcription enhancer factor 2, polypeptide C; myocyte-specific enhancer factor 2C; NEDHSIL
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl588,717,117 - 88,904,257 (-)EnsemblGRCh38hg38GRCh38
GRCh38588,717,117 - 88,904,105 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37588,012,934 - 88,199,922 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36588,051,922 - 88,214,780 (-)NCBINCBI36hg18NCBI36
Build 34588,051,921 - 88,214,780NCBI
Celera583,907,023 - 84,092,551 (-)NCBI
Cytogenetic Map5q14.3NCBI
HuRef583,218,989 - 83,404,187 (-)NCBIHuRef
CHM1_1587,447,103 - 87,632,656 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-butoxyethanol  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
acadesine  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
aflatoxin B2  (EXP)
all-trans-retinoic acid  (EXP)
amiodarone  (EXP)
amphetamine  (ISO)
aristolochic acid  (EXP)
Aroclor 1254  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
buta-1,3-diene  (ISO)
caffeine  (ISO)
cannabidiol  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
chrysene  (ISO)
crocidolite asbestos  (ISO)
curcumin  (ISO)
cyclosporin A  (EXP)
dantrolene  (ISO)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
dimethyl sulfoxide  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenvalerate  (ISO)
ferric oxide  (ISO)
formaldehyde  (EXP)
Goe 6976  (ISO)
hydrogen peroxide  (EXP,ISO)
icariin  (ISO)
indometacin  (EXP)
isoprenaline  (ISO)
isotretinoin  (EXP)
isoxazoles  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
maneb  (EXP)
manganese(II) chloride  (ISO)
metformin  (EXP)
methotrexate  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
methylseleninic acid  (EXP)
mifepristone  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
nickel atom  (ISO)
nickel sulfate  (ISO)
nicotine  (ISO)
nitrofen  (ISO)
oxaliplatin  (ISO)
panobinostat  (EXP)
paracetamol  (EXP)
paraquat  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
phosgene  (ISO)
pioglitazone  (ISO)
pirinixic acid  (ISO)
poly(I:C)  (ISO)
resveratrol  (EXP,ISO)
rofecoxib  (EXP)
SB 203580  (ISO)
SB 431542  (EXP)
silicon dioxide  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
spermine  (ISO)
streptozocin  (EXP,ISO)
succimer  (ISO)
temozolomide  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
apoptotic process  (IEA)
B cell homeostasis  (ISS)
B cell proliferation  (ISS)
B cell receptor signaling pathway  (ISS)
blood vessel development  (ISO,ISS)
blood vessel remodeling  (ISO,ISS)
cardiac muscle cell differentiation  (ISO)
cardiac muscle hypertrophy in response to stress  (ISO)
cardiac ventricle formation  (ISO,ISS)
cartilage morphogenesis  (ISO)
cell differentiation  (IBA)
cell fate commitment  (ISO)
cell morphogenesis involved in neuron differentiation  (ISS)
cellular response to calcium ion  (ISS)
cellular response to fluid shear stress  (ISS)
cellular response to glucose stimulus  (ISO)
cellular response to growth factor stimulus  (ISO)
cellular response to lipopolysaccharide  (ISS)
cellular response to organic cyclic compound  (ISO)
cellular response to parathyroid hormone stimulus  (IDA)
cellular response to retinoic acid  (ISO)
cellular response to transforming growth factor beta stimulus  (IDA)
cellular response to trichostatin A  (ISS)
cellular response to xenobiotic stimulus  (ISS)
chondrocyte differentiation  (ISO,ISS)
dentate gyrus development  (ISO)
embryonic heart tube development  (ISO)
embryonic skeletal system morphogenesis  (ISO)
embryonic viscerocranium morphogenesis  (ISO)
endochondral ossification  (ISO,ISS)
epithelial cell proliferation involved in renal tubule morphogenesis  (ISS)
excitatory postsynaptic potential  (ISS)
gene expression  (ISO)
germinal center formation  (ISS)
glomerulus morphogenesis  (ISS)
heart development  (IBA,IEP,ISO,ISS,NAS)
heart looping  (ISS)
humoral immune response  (ISS)
learning or memory  (ISS)
MAPK cascade  (IDA,IMP)
melanocyte differentiation  (ISS)
monocyte differentiation  (ISO)
muscle cell fate determination  (ISO,ISS)
muscle organ development  (TAS)
myotube differentiation  (IEP)
negative regulation of blood vessel endothelial cell migration  (IGI)
negative regulation of epithelial cell proliferation  (ISO)
negative regulation of gene expression  (ISS)
negative regulation of neuron apoptotic process  (ISS)
negative regulation of ossification  (IDA)
negative regulation of transcription by RNA polymerase II  (IMP,ISO)
negative regulation of vascular associated smooth muscle cell migration  (IDA,IGI)
negative regulation of vascular associated smooth muscle cell proliferation  (IDA,IGI)
negative regulation of vascular endothelial cell proliferation  (IGI)
nephron tubule epithelial cell differentiation  (ISS)
nervous system development  (IEA,TAS)
neural crest cell differentiation  (ISS)
neuron development  (ISS)
neuron differentiation  (IEP,ISS)
neuron migration  (ISS)
osteoblast differentiation  (ISO,ISS)
outflow tract morphogenesis  (ISO,ISS)
platelet formation  (ISS)
positive regulation of alkaline phosphatase activity  (ISS)
positive regulation of B cell proliferation  (ISS)
positive regulation of behavioral fear response  (ISS)
positive regulation of bone mineralization  (ISS)
positive regulation of cardiac muscle cell differentiation  (IDA)
positive regulation of cardiac muscle cell proliferation  (ISS)
positive regulation of cardiac muscle hypertrophy  (ISO)
positive regulation of cell proliferation in bone marrow  (ISO)
positive regulation of gene expression  (IDA)
positive regulation of macrophage apoptotic process  (ISS)
positive regulation of myoblast differentiation  (IMP)
positive regulation of neuron differentiation  (ISS)
positive regulation of osteoblast differentiation  (ISS)
positive regulation of skeletal muscle cell differentiation  (IDA)
positive regulation of skeletal muscle tissue development  (IMP)
positive regulation of transcription by RNA polymerase II  (IBA,IDA,IEA,IMP,ISO)
positive regulation of transcription, DNA-templated  (IDA,ISO)
primary heart field specification  (ISS)
regulation of AMPA receptor activity  (ISS)
regulation of dendritic spine development  (ISS)
regulation of germinal center formation  (ISS)
regulation of megakaryocyte differentiation  (ISS)
regulation of neuron apoptotic process  (ISS)
regulation of neurotransmitter secretion  (ISS)
regulation of NMDA receptor activity  (ISS)
regulation of sarcomere organization  (ISO)
regulation of synapse assembly  (ISS)
regulation of synaptic activity  (ISS)
regulation of synaptic plasticity  (ISS)
regulation of synaptic transmission, glutamatergic  (ISS)
regulation of transcription by RNA polymerase II  (IBA)
regulation of transcription, DNA-templated  (IDA,ISO)
renal tubule morphogenesis  (ISS)
response to nutrient levels  (ISO)
response to vitamin E  (ISO)
roof of mouth development  (ISO)
secondary heart field specification  (ISS)
semaphorin-plexin signaling pathway involved in axon guidance  (ISO)
sinoatrial valve morphogenesis  (ISS)
skeletal muscle cell differentiation  (ISO)
skeletal muscle tissue development  (ISO,ISS)
smooth muscle cell differentiation  (ISO,ISS)
sympathetic neuron axon guidance  (ISO)
transdifferentiation  (ISO)
ventricular cardiac muscle cell differentiation  (ISS)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7679508   PMID:8455629   PMID:8548800   PMID:8575763   PMID:8575784   PMID:8663403   PMID:8900141   PMID:8948587   PMID:9001254   PMID:9069290   PMID:9384584   PMID:9418854  
PMID:9748305   PMID:9753748   PMID:9770491   PMID:9798649   PMID:9857019   PMID:9858528   PMID:10082551   PMID:10330143   PMID:10458488   PMID:10523670   PMID:10737771   PMID:10790371  
PMID:10805738   PMID:11160896   PMID:11279209   PMID:11486037   PMID:11504882   PMID:11535832   PMID:11554755   PMID:11744164   PMID:11792813   PMID:11809751   PMID:12061776   PMID:12130539  
PMID:12135755   PMID:12376544   PMID:12477932   PMID:12659851   PMID:12709441   PMID:12861002   PMID:15084602   PMID:15140898   PMID:15276183   PMID:15340086   PMID:15342556   PMID:15486975  
PMID:15561718   PMID:15743821   PMID:15743823   PMID:15831463   PMID:15834131   PMID:15923648   PMID:15964851   PMID:16043483   PMID:16344560   PMID:16478538   PMID:16504037   PMID:16510869  
PMID:17611778   PMID:17696759   PMID:17903302   PMID:18029348   PMID:18067759   PMID:18079734   PMID:18332106   PMID:18463162   PMID:18588859   PMID:18660489   PMID:18950845   PMID:19011954  
PMID:19065516   PMID:19093215   PMID:19274049   PMID:19453261   PMID:19553684   PMID:19592390   PMID:19720801   PMID:19751190   PMID:19801982   PMID:19828686   PMID:19913121   PMID:20211142  
PMID:20333642   PMID:20412115   PMID:20513142   PMID:20610535   PMID:20628086   PMID:20709755   PMID:20881960   PMID:20936779   PMID:21060863   PMID:21170291   PMID:21481790   PMID:21533022  
PMID:21556048   PMID:21610032   PMID:21652706   PMID:21849497   PMID:21873635   PMID:21901155   PMID:21988832   PMID:22073279   PMID:22139419   PMID:22275376   PMID:22363514   PMID:22449245  
PMID:22504420   PMID:22718505   PMID:22798246   PMID:22997707   PMID:23001426   PMID:23174904   PMID:23226416   PMID:23382706   PMID:23389741   PMID:23400010   PMID:23468913   PMID:23572186  
PMID:23752268   PMID:23776548   PMID:23888946   PMID:24008018   PMID:24162737   PMID:24249740   PMID:24290359   PMID:24337390   PMID:24412363   PMID:24988463   PMID:25056061   PMID:25328135  
PMID:25336633   PMID:25352737   PMID:25404735   PMID:25416133   PMID:25429064   PMID:25609649   PMID:25691421   PMID:25733682   PMID:25789873   PMID:26172269   PMID:26184978   PMID:26426104  
PMID:26487643   PMID:26864752   PMID:26900922   PMID:26921792   PMID:26923194   PMID:27144530   PMID:27255693   PMID:27268728   PMID:27276684   PMID:27297623   PMID:27337099   PMID:27479909  
PMID:27553283   PMID:27616567   PMID:27664809   PMID:27907007   PMID:28017720   PMID:28456137   PMID:28473437   PMID:28473536   PMID:28482719   PMID:28514442   PMID:28799067   PMID:28821601  
PMID:28902616   PMID:29104469   PMID:29112298   PMID:29413154   PMID:29431698   PMID:29468350   PMID:29526696   PMID:29678826   PMID:29714661   PMID:29863696   PMID:29995456   PMID:30006604  
PMID:30335237   PMID:30376817   PMID:30445463   PMID:31040226   PMID:31094920   PMID:31140610   PMID:31254364   PMID:31900516   PMID:31988313   PMID:32003456   PMID:32017034   PMID:32046534  
PMID:32140074   PMID:32186750   PMID:32296183   PMID:32410261   PMID:32513696   PMID:33187986   PMID:33270893   PMID:33303006   PMID:33831796   PMID:34022131  


Genomics

Comparative Map Data
MEF2C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl588,717,117 - 88,904,257 (-)EnsemblGRCh38hg38GRCh38
GRCh38588,717,117 - 88,904,105 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37588,012,934 - 88,199,922 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36588,051,922 - 88,214,780 (-)NCBINCBI36hg18NCBI36
Build 34588,051,921 - 88,214,780NCBI
Celera583,907,023 - 84,092,551 (-)NCBI
Cytogenetic Map5q14.3NCBI
HuRef583,218,989 - 83,404,187 (-)NCBIHuRef
CHM1_1587,447,103 - 87,632,656 (-)NCBICHM1_1
Mef2c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391383,652,136 - 83,815,198 (+)NCBIGRCm39mm39
GRCm39 Ensembl1383,652,153 - 83,815,199 (+)Ensembl
GRCm381383,504,017 - 83,667,079 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1383,504,034 - 83,667,080 (+)EnsemblGRCm38mm10GRCm38
MGSCv371383,643,033 - 83,806,684 (+)NCBIGRCm37mm9NCBIm37
MGSCv361383,981,532 - 84,141,286 (+)NCBImm8
Celera1385,760,645 - 85,921,930 (+)NCBICelera
Cytogenetic Map13C3NCBI
cM Map1343.68NCBI
Mef2c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2213,973,299 - 14,136,065 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl213,993,438 - 14,132,880 (+)Ensembl
Rnor_6.0211,658,534 - 11,822,788 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl211,658,568 - 11,822,787 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0211,521,053 - 11,684,949 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4212,331,078 - 12,346,520 (-)NCBIRGSC3.4rn4RGSC3.4
Celera210,288,159 - 10,449,731 (+)NCBICelera
Cytogenetic Map2q11NCBI
Mef2c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541822,537,285 - 22,701,434 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541822,537,388 - 22,701,434 (+)NCBIChiLan1.0ChiLan1.0
MEF2C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1526,620,837 - 26,786,426 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl526,681,700 - 26,786,426 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0526,480,489 - 26,650,813 (+)NCBIMhudiblu_PPA_v0panPan3
MEF2C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1319,778,997 - 19,948,203 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl319,779,007 - 19,943,852 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha321,145,574 - 21,314,826 (+)NCBI
ROS_Cfam_1.0319,687,661 - 19,856,893 (+)NCBI
UMICH_Zoey_3.1319,665,907 - 19,834,881 (+)NCBI
UNSW_CanFamBas_1.0319,629,618 - 19,798,838 (+)NCBI
UU_Cfam_GSD_1.0319,916,077 - 20,085,117 (+)NCBI
Mef2c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213175,400,303 - 175,565,279 (+)NCBI
SpeTri2.0NW_0049364697,060,480 - 7,225,497 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MEF2C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl296,122,407 - 96,296,842 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1296,122,407 - 96,296,927 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2298,794,388 - 98,885,272 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MEF2C
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1482,702,378 - 82,887,491 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl482,706,738 - 82,788,152 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604931,746,488 - 31,916,073 (-)NCBIVero_WHO_p1.0
Mef2c
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247438,072,871 - 8,235,174 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
L28334  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,187,661 - 88,187,774UniSTSGRCh37
Build 36588,223,417 - 88,223,530RGDNCBI36
Cytogenetic Map5q14UniSTS
D5S1705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,124,463 - 88,124,603UniSTSGRCh37
Build 36588,160,219 - 88,160,359RGDNCBI36
Celera584,017,106 - 84,017,246RGD
Cytogenetic Map5q14UniSTS
HuRef583,328,748 - 83,328,888UniSTS
Whitehead-RH Map5296.5UniSTS
Whitehead-YAC Contig Map5 UniSTS
RH93636  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,121,262 - 88,121,440UniSTSGRCh37
Build 36588,157,018 - 88,157,196RGDNCBI36
Celera584,013,904 - 84,014,082RGD
Cytogenetic Map5q14UniSTS
HuRef583,325,547 - 83,325,725UniSTS
GeneMap99-GB4 RH Map5402.95UniSTS
RH103877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,143,539 - 88,143,626UniSTSGRCh37
Build 36588,179,295 - 88,179,382RGDNCBI36
Celera584,036,188 - 84,036,275RGD
Cytogenetic Map5q14UniSTS
HuRef583,347,833 - 83,347,920UniSTS
GeneMap99-GB4 RH Map5402.95UniSTS
RH120393  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,013,720 - 88,014,067UniSTSGRCh37
Build 36588,049,476 - 88,049,823RGDNCBI36
Celera583,906,685 - 83,907,032RGD
Cytogenetic Map5q14UniSTS
HuRef583,218,651 - 83,218,998UniSTS
TNG Radiation Hybrid Map540105.0UniSTS
RH121542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,112,170 - 88,112,493UniSTSGRCh37
Build 36588,147,926 - 88,148,249RGDNCBI36
Celera584,004,810 - 84,005,133RGD
Cytogenetic Map5q14UniSTS
HuRef583,316,453 - 83,316,777UniSTS
TNG Radiation Hybrid Map540139.0UniSTS
RH121467  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,191,420 - 88,191,718UniSTSGRCh37
Build 36588,227,176 - 88,227,474RGDNCBI36
Celera584,084,049 - 84,084,347RGD
Cytogenetic Map5q14UniSTS
HuRef583,395,681 - 83,395,979UniSTS
TNG Radiation Hybrid Map540161.0UniSTS
SHGC-112475  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,087,787 - 88,088,112UniSTSGRCh37
Build 36588,123,543 - 88,123,868RGDNCBI36
Celera583,980,429 - 83,980,754RGD
Cytogenetic Map5q14UniSTS
HuRef583,292,068 - 83,292,393UniSTS
TNG Radiation Hybrid Map540126.0UniSTS
SHGC-106419  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,191,767 - 88,192,067UniSTSGRCh37
Build 36588,227,523 - 88,227,823RGDNCBI36
Celera584,084,396 - 84,084,696RGD
Cytogenetic Map5q14UniSTS
HuRef583,396,028 - 83,396,328UniSTS
TNG Radiation Hybrid Map540165.0UniSTS
SHGC-81868  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,105,043 - 88,105,322UniSTSGRCh37
Build 36588,140,799 - 88,141,078RGDNCBI36
Celera583,997,684 - 83,997,963RGD
Cytogenetic Map5q14UniSTS
HuRef583,309,326 - 83,309,605UniSTS
TNG Radiation Hybrid Map540136.0UniSTS
MEF2C_2028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,016,545 - 88,017,437UniSTSGRCh37
Build 36588,052,301 - 88,053,193RGDNCBI36
Celera583,909,511 - 83,910,402RGD
HuRef583,221,477 - 83,222,368UniSTS
G10647  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,017,675 - 88,017,902UniSTSGRCh37
Build 36588,053,431 - 88,053,658RGDNCBI36
Celera583,910,640 - 83,910,867RGD
Cytogenetic Map5q14UniSTS
HuRef583,222,606 - 83,222,833UniSTS
SHGC-56442  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,199,037 - 88,199,289UniSTSGRCh37
GRCh37766,801,542 - 66,801,790UniSTSGRCh37
Build 36588,234,793 - 88,235,045RGDNCBI36
Celera584,091,666 - 84,091,918RGD
Celera760,184,946 - 60,185,194UniSTS
Cytogenetic Map5q14UniSTS
HuRef762,984,252 - 62,984,504UniSTS
HuRef583,403,302 - 83,403,554UniSTS
CRA_TCAGchr7v2766,139,104 - 66,139,352UniSTS
SHGC-60182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,121,418 - 88,121,519UniSTSGRCh37
Build 36588,157,174 - 88,157,275RGDNCBI36
Celera584,014,060 - 84,014,161RGD
Cytogenetic Map5q14UniSTS
HuRef583,325,703 - 83,325,804UniSTS
TNG Radiation Hybrid Map540139.0UniSTS
STS-Z40067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,014,110 - 88,014,172UniSTSGRCh37
GRCh371147,818,757 - 47,819,734UniSTSGRCh37
Build 36588,049,866 - 88,049,928RGDNCBI36
Celera1147,966,593 - 47,967,570UniSTS
Celera583,907,075 - 83,907,137RGD
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map5q14UniSTS
HuRef583,219,041 - 83,219,103UniSTS
GeneMap99-GB4 RH Map5402.95UniSTS
1372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,177,109 - 88,177,206UniSTSGRCh37
Build 36588,212,865 - 88,212,962RGDNCBI36
Celera584,069,737 - 84,069,834RGD
Cytogenetic Map5q14UniSTS
HuRef583,381,370 - 83,381,467UniSTS
GeneMap99-GB4 RH Map5402.95UniSTS
WI-11682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,064,600 - 88,064,703UniSTSGRCh37
Build 36588,100,356 - 88,100,459RGDNCBI36
Celera583,957,239 - 83,957,342RGD
Cytogenetic Map5q14UniSTS
HuRef583,268,877 - 83,268,980UniSTS
GeneMap99-GB4 RH Map5400.93UniSTS
Whitehead-RH Map5293.2UniSTS
NCBI RH Map5567.3UniSTS
SHGC-60204  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,121,189 - 88,121,332UniSTSGRCh37
Build 36588,156,945 - 88,157,088RGDNCBI36
Celera584,013,831 - 84,013,974RGD
Cytogenetic Map5q14UniSTS
HuRef583,325,474 - 83,325,617UniSTS
D5S1755  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,130,859 - 88,130,964UniSTSGRCh37
Build 36588,166,615 - 88,166,720RGDNCBI36
Celera584,023,502 - 84,023,607RGD
Cytogenetic Map5q14UniSTS
HuRef583,335,144 - 83,335,249UniSTS
Whitehead-RH Map5296.5UniSTS
Whitehead-YAC Contig Map5 UniSTS
SGC30495  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,016,180 - 88,016,304UniSTSGRCh37
Build 36588,051,936 - 88,052,060RGDNCBI36
Celera583,909,146 - 83,909,270RGD
Cytogenetic Map5q14UniSTS
HuRef583,221,112 - 83,221,236UniSTS
GeneMap99-GB4 RH Map5402.95UniSTS
Whitehead-RH Map5296.6UniSTS
D5S2436  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,030,435 - 88,030,586UniSTSGRCh37
Build 36588,066,191 - 88,066,342RGDNCBI36
Celera583,923,398 - 83,923,549RGD
Cytogenetic Map5q14UniSTS
HuRef583,235,359 - 83,235,510UniSTS
Whitehead-YAC Contig Map5 UniSTS
SGC30054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,016,696 - 88,016,796UniSTSGRCh37
Build 36588,052,452 - 88,052,552RGDNCBI36
Celera583,909,661 - 83,909,761RGD
Cytogenetic Map5q14UniSTS
HuRef583,221,627 - 83,221,727UniSTS
GeneMap99-GB4 RH Map5400.83UniSTS
Whitehead-RH Map5292.6UniSTS
MEF2C  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,057,065 - 88,057,130UniSTSGRCh37
GRCh37588,047,679 - 88,047,847UniSTSGRCh37
Celera583,949,704 - 83,949,769UniSTS
Celera583,940,315 - 83,940,483UniSTS
HuRef583,251,951 - 83,252,119UniSTS
HuRef583,261,340 - 83,261,405UniSTS
MEF2C  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37588,057,065 - 88,057,130UniSTSGRCh37
GRCh37588,047,679 - 88,047,847UniSTSGRCh37
Celera583,949,704 - 83,949,769UniSTS
Celera583,940,315 - 83,940,483UniSTS
HuRef583,251,951 - 83,252,119UniSTS
HuRef583,261,340 - 83,261,405UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR21hsa-miR-21-5pMirtarbaseexternal_infoImmunofluorescence//In situ hybridization//LuciferFunctional MTI21170291
MIR223hsa-miR-223-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI18278031
MIR223hsa-miR-223-3pMirtarbaseexternal_infoImmunofluorescence//qRT-PCR//Western blotNon-Functional MTI23094093

Predicted Target Of
Summary Value
Count of predictions:9808
Count of miRNA genes:1296
Interacting mature miRNAs:1679
Transcripts:ENST00000340208, ENST00000424173, ENST00000437473, ENST00000502831, ENST00000502983, ENST00000503075, ENST00000503554, ENST00000503955, ENST00000504921, ENST00000506554, ENST00000506716, ENST00000507984, ENST00000508569, ENST00000508610, ENST00000509349, ENST00000509373, ENST00000510942, ENST00000510980, ENST00000511086, ENST00000513252, ENST00000514015, ENST00000514028, ENST00000515093, ENST00000515715, ENST00000539796
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 549 1368 803 32 966 21 2371 996 1100 123 508 1006 12 970 1680 1
Low 1828 1558 882 555 893 406 1839 1188 2601 280 896 535 156 234 1106 1 1
Below cutoff 42 60 38 33 84 35 143 12 29 12 44 59 5 2 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001131005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW191949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX214546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP231922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA494302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA516520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC318557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC377336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC377710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FM163484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FM180475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L08895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S57212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000340208   ⟹   ENSP00000340874
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,718,241 - 88,904,053 (-)Ensembl
RefSeq Acc Id: ENST00000424173   ⟹   ENSP00000389610
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,718,241 - 88,904,257 (-)Ensembl
RefSeq Acc Id: ENST00000437473   ⟹   ENSP00000396219
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,720,337 - 88,883,466 (-)Ensembl
RefSeq Acc Id: ENST00000502831   ⟹   ENSP00000427286
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,751,862 - 88,825,846 (-)Ensembl
RefSeq Acc Id: ENST00000502983   ⟹   ENSP00000427163
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,761,200 - 88,884,568 (-)Ensembl
RefSeq Acc Id: ENST00000503075   ⟹   ENSP00000426465
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,761,325 - 88,883,227 (-)Ensembl
RefSeq Acc Id: ENST00000503554   ⟹   ENSP00000487437
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,722,567 - 88,785,542 (-)Ensembl
RefSeq Acc Id: ENST00000503955
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,887,392 - 88,904,052 (-)Ensembl
RefSeq Acc Id: ENST00000504921   ⟹   ENSP00000421925
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,717,117 - 88,883,184 (-)Ensembl
RefSeq Acc Id: ENST00000506554   ⟹   ENSP00000425636
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,720,844 - 88,883,172 (-)Ensembl
RefSeq Acc Id: ENST00000506716   ⟹   ENSP00000423656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,731,852 - 88,824,340 (-)Ensembl
RefSeq Acc Id: ENST00000507984   ⟹   ENSP00000424331
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,761,023 - 88,827,158 (-)Ensembl
RefSeq Acc Id: ENST00000508569   ⟹   ENSP00000423597
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,722,489 - 88,883,181 (-)Ensembl
RefSeq Acc Id: ENST00000508610   ⟹   ENSP00000426442
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,761,209 - 88,877,977 (-)Ensembl
RefSeq Acc Id: ENST00000509349
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,823,861 - 88,883,224 (-)Ensembl
RefSeq Acc Id: ENST00000509373   ⟹   ENSP00000427309
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,804,770 - 88,824,275 (-)Ensembl
RefSeq Acc Id: ENST00000510942   ⟹   ENSP00000422390
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,720,829 - 88,883,184 (-)Ensembl
RefSeq Acc Id: ENST00000510980
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,722,837 - 88,729,519 (-)Ensembl
RefSeq Acc Id: ENST00000511086
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,804,526 - 88,883,174 (-)Ensembl
RefSeq Acc Id: ENST00000513252   ⟹   ENSP00000423826
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,731,805 - 88,883,147 (-)Ensembl
RefSeq Acc Id: ENST00000514015   ⟹   ENSP00000424606
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,721,570 - 88,883,224 (-)Ensembl
RefSeq Acc Id: ENST00000514028   ⟹   ENSP00000426665
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,720,825 - 88,825,864 (-)Ensembl
RefSeq Acc Id: ENST00000515093
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,823,796 - 88,889,324 (-)Ensembl
RefSeq Acc Id: ENST00000515715
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,731,437 - 88,749,124 (-)Ensembl
RefSeq Acc Id: ENST00000625585   ⟹   ENSP00000487538
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,720,825 - 88,825,848 (-)Ensembl
RefSeq Acc Id: ENST00000625674   ⟹   ENSP00000487430
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,720,026 - 88,904,052 (-)Ensembl
RefSeq Acc Id: ENST00000626391   ⟹   ENSP00000487184
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,722,604 - 88,823,788 (-)Ensembl
RefSeq Acc Id: ENST00000627170   ⟹   ENSP00000487157
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,722,495 - 88,731,827 (-)Ensembl
RefSeq Acc Id: ENST00000627659   ⟹   ENSP00000486490
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,721,925 - 88,904,097 (-)Ensembl
RefSeq Acc Id: ENST00000627717   ⟹   ENSP00000486932
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,722,498 - 88,749,115 (-)Ensembl
RefSeq Acc Id: ENST00000628656   ⟹   ENSP00000487311
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,722,604 - 88,823,788 (-)Ensembl
RefSeq Acc Id: ENST00000629612   ⟹   ENSP00000486554
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,721,577 - 88,904,105 (-)Ensembl
RefSeq Acc Id: ENST00000629847
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,880,844 - 88,881,264 (-)Ensembl
RefSeq Acc Id: ENST00000631026   ⟹   ENSP00000485972
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,749,086 - 88,827,192 (-)Ensembl
RefSeq Acc Id: ENST00000635837
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,884,356 - 88,887,590 (-)Ensembl
RefSeq Acc Id: ENST00000635898   ⟹   ENSP00000490525
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,804,754 - 88,823,784 (-)Ensembl
RefSeq Acc Id: ENST00000636061
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,882,960 - 88,884,387 (-)Ensembl
RefSeq Acc Id: ENST00000636143
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,721,620 - 88,761,912 (-)Ensembl
RefSeq Acc Id: ENST00000636294   ⟹   ENSP00000490473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,721,647 - 88,877,999 (-)Ensembl
RefSeq Acc Id: ENST00000636336
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,823,863 - 88,824,914 (-)Ensembl
RefSeq Acc Id: ENST00000636349
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,887,565 - 88,888,232 (-)Ensembl
RefSeq Acc Id: ENST00000636517
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,761,310 - 88,772,346 (-)Ensembl
RefSeq Acc Id: ENST00000636541   ⟹   ENSP00000489865
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,761,217 - 88,824,295 (-)Ensembl
RefSeq Acc Id: ENST00000636998   ⟹   ENSP00000490630
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,718,274 - 88,883,747 (-)Ensembl
RefSeq Acc Id: ENST00000637048
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,823,901 - 88,839,309 (-)Ensembl
RefSeq Acc Id: ENST00000637167
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,887,585 - 88,888,964 (-)Ensembl
RefSeq Acc Id: ENST00000637231
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,887,543 - 88,888,932 (-)Ensembl
RefSeq Acc Id: ENST00000637372
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,761,269 - 88,771,858 (-)Ensembl
RefSeq Acc Id: ENST00000637481   ⟹   ENSP00000490354
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,718,274 - 88,883,184 (-)Ensembl
RefSeq Acc Id: ENST00000637506
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,771,789 - 88,804,619 (-)Ensembl
RefSeq Acc Id: ENST00000637531
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,772,282 - 88,804,617 (-)Ensembl
RefSeq Acc Id: ENST00000637663
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,880,982 - 88,889,299 (-)Ensembl
RefSeq Acc Id: ENST00000637664
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,732,472 - 88,749,097 (-)Ensembl
RefSeq Acc Id: ENST00000637732   ⟹   ENSP00000490241
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,720,856 - 88,883,182 (-)Ensembl
RefSeq Acc Id: ENST00000637754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,771,973 - 88,804,669 (-)Ensembl
RefSeq Acc Id: ENST00000637801
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl588,877,963 - 88,882,996 (-)Ensembl
RefSeq Acc Id: NM_001131005   ⟹   NP_001124477
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,904,105 (-)NCBI
GRCh37588,014,058 - 88,199,922 (-)ENTREZGENE
HuRef583,218,989 - 83,404,187 (-)ENTREZGENE
CHM1_1587,447,103 - 87,632,656 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001193347   ⟹   NP_001180276
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,904,105 (-)NCBI
GRCh37588,014,058 - 88,199,922 (-)ENTREZGENE
HuRef583,218,989 - 83,404,187 (-)ENTREZGENE
CHM1_1587,447,103 - 87,632,656 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001193348   ⟹   NP_001180277
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,823,927 (-)NCBI
GRCh37588,014,058 - 88,199,922 (-)ENTREZGENE
HuRef583,218,989 - 83,404,187 (-)ENTREZGENE
CHM1_1587,447,103 - 87,552,430 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001193349   ⟹   NP_001180278
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,883,184 (-)NCBI
GRCh37588,014,058 - 88,199,922 (-)ENTREZGENE
HuRef583,218,989 - 83,404,187 (-)ENTREZGENE
CHM1_1587,447,103 - 87,552,430 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001193350   ⟹   NP_001180279
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,717,117 - 88,883,184 (-)NCBI
GRCh37588,014,058 - 88,199,922 (-)ENTREZGENE
HuRef583,218,989 - 83,404,187 (-)ENTREZGENE
CHM1_1587,447,103 - 87,612,017 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001308002   ⟹   NP_001294931
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,717,117 - 88,883,184 (-)NCBI
CHM1_1587,447,103 - 87,552,430 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363581   ⟹   NP_001350510
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,824,344 (-)NCBI
RefSeq Acc Id: NM_001364329   ⟹   NP_001351258
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,717,117 - 88,889,375 (-)NCBI
RefSeq Acc Id: NM_001364330   ⟹   NP_001351259
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,717,117 - 88,889,375 (-)NCBI
RefSeq Acc Id: NM_001364331   ⟹   NP_001351260
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,717,117 - 88,883,184 (-)NCBI
RefSeq Acc Id: NM_001364332   ⟹   NP_001351261
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,883,184 (-)NCBI
RefSeq Acc Id: NM_001364333   ⟹   NP_001351262
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,717,117 - 88,883,184 (-)NCBI
RefSeq Acc Id: NM_001364334   ⟹   NP_001351263
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,889,375 (-)NCBI
RefSeq Acc Id: NM_001364335   ⟹   NP_001351264
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,884,536 (-)NCBI
RefSeq Acc Id: NM_001364336   ⟹   NP_001351265
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,883,184 (-)NCBI
RefSeq Acc Id: NM_001364337   ⟹   NP_001351266
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,883,184 (-)NCBI
RefSeq Acc Id: NM_001364338   ⟹   NP_001351267
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,883,184 (-)NCBI
RefSeq Acc Id: NM_001364339   ⟹   NP_001351268
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,883,184 (-)NCBI
RefSeq Acc Id: NM_001364340   ⟹   NP_001351269
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,883,184 (-)NCBI
RefSeq Acc Id: NM_001364341   ⟹   NP_001351270
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,827,192 (-)NCBI
RefSeq Acc Id: NM_001364342   ⟹   NP_001351271
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,827,192 (-)NCBI
RefSeq Acc Id: NM_001364343   ⟹   NP_001351272
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,883,184 (-)NCBI
RefSeq Acc Id: NM_001364344   ⟹   NP_001351273
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,717,117 - 88,883,184 (-)NCBI
RefSeq Acc Id: NM_001364345   ⟹   NP_001351274
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,884,536 (-)NCBI
RefSeq Acc Id: NM_001364346   ⟹   NP_001351275
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,883,184 (-)NCBI
RefSeq Acc Id: NM_001364347   ⟹   NP_001351276
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,883,184 (-)NCBI
RefSeq Acc Id: NM_001364348   ⟹   NP_001351277
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,883,184 (-)NCBI
RefSeq Acc Id: NM_001364349   ⟹   NP_001351278
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,883,184 (-)NCBI
RefSeq Acc Id: NM_001364350   ⟹   NP_001351279
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,826,060 (-)NCBI
RefSeq Acc Id: NM_001364352   ⟹   NP_001351281
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,883,184 (-)NCBI
RefSeq Acc Id: NM_001364353   ⟹   NP_001351282
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,717,117 - 88,785,511 (-)NCBI
RefSeq Acc Id: NM_001364354   ⟹   NP_001351283
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,883,184 (-)NCBI
RefSeq Acc Id: NM_001364355   ⟹   NP_001351284
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,883,184 (-)NCBI
RefSeq Acc Id: NM_001364356   ⟹   NP_001351285
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,785,511 (-)NCBI
RefSeq Acc Id: NM_001364357   ⟹   NP_001351286
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,785,511 (-)NCBI
RefSeq Acc Id: NM_002397   ⟹   NP_002388
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,717,117 - 88,883,184 (-)NCBI
GRCh37588,014,058 - 88,199,922 (-)ENTREZGENE
Build 36588,051,922 - 88,214,780 (-)NCBI Archive
HuRef583,218,989 - 83,404,187 (-)ENTREZGENE
CHM1_1587,447,103 - 87,612,017 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005248511   ⟹   XP_005248568
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,720,337 - 88,884,557 (-)NCBI
GRCh37588,014,058 - 88,199,922 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006714625   ⟹   XP_006714688
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,883,216 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543396   ⟹   XP_011541698
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,720,353 - 88,904,056 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543397   ⟹   XP_011541699
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,720,337 - 88,883,238 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017009475   ⟹   XP_016864964
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,720,337 - 88,883,216 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017009478   ⟹   XP_016864967
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,718,241 - 88,883,216 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024446055   ⟹   XP_024301823
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,720,337 - 88,827,183 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024446056   ⟹   XP_024301824
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,720,337 - 88,824,334 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024446057   ⟹   XP_024301825
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,720,337 - 88,883,480 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024446058   ⟹   XP_024301826
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,720,337 - 88,827,170 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024446059   ⟹   XP_024301827
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,720,337 - 88,824,335 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001124477 (Get FASTA)   NCBI Sequence Viewer  
  NP_001180276 (Get FASTA)   NCBI Sequence Viewer  
  NP_001180277 (Get FASTA)   NCBI Sequence Viewer  
  NP_001180278 (Get FASTA)   NCBI Sequence Viewer  
  NP_001180279 (Get FASTA)   NCBI Sequence Viewer  
  NP_001294931 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350510 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351258 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351259 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351260 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351261 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351262 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351263 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351264 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351265 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351266 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351267 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351268 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351269 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351270 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351271 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351272 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351273 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351274 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351275 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351276 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351277 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351278 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351279 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351281 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351282 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351283 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351284 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351285 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351286 (Get FASTA)   NCBI Sequence Viewer  
  NP_002388 (Get FASTA)   NCBI Sequence Viewer  
  XP_005248568 (Get FASTA)   NCBI Sequence Viewer  
  XP_006714688 (Get FASTA)   NCBI Sequence Viewer  
  XP_011541698 (Get FASTA)   NCBI Sequence Viewer  
  XP_011541699 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864964 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864967 (Get FASTA)   NCBI Sequence Viewer  
  XP_024301823 (Get FASTA)   NCBI Sequence Viewer  
  XP_024301824 (Get FASTA)   NCBI Sequence Viewer  
  XP_024301825 (Get FASTA)   NCBI Sequence Viewer  
  XP_024301826 (Get FASTA)   NCBI Sequence Viewer  
  XP_024301827 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA59578 (Get FASTA)   NCBI Sequence Viewer  
  AAB25838 (Get FASTA)   NCBI Sequence Viewer  
  BAG35378 (Get FASTA)   NCBI Sequence Viewer  
  CAC69373 (Get FASTA)   NCBI Sequence Viewer  
  CAQ57795 (Get FASTA)   NCBI Sequence Viewer  
  CAQ86609 (Get FASTA)   NCBI Sequence Viewer  
  EAW95961 (Get FASTA)   NCBI Sequence Viewer  
  EAW95962 (Get FASTA)   NCBI Sequence Viewer  
  EAW95963 (Get FASTA)   NCBI Sequence Viewer  
  EAW95964 (Get FASTA)   NCBI Sequence Viewer  
  EAW95965 (Get FASTA)   NCBI Sequence Viewer  
  EAW95966 (Get FASTA)   NCBI Sequence Viewer  
  EAW95967 (Get FASTA)   NCBI Sequence Viewer  
  EAW95968 (Get FASTA)   NCBI Sequence Viewer  
  Q06413 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001124477   ⟸   NM_001131005
- Peptide Label: isoform 2
- UniProtKB: Q06413 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001180276   ⟸   NM_001193347
- Peptide Label: isoform 3
- UniProtKB: Q06413 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001180279   ⟸   NM_001193350
- Peptide Label: isoform 1
- UniProtKB: Q06413 (UniProtKB/Swiss-Prot),   A0A024RAL7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002388   ⟸   NM_002397
- Peptide Label: isoform 1
- UniProtKB: Q06413 (UniProtKB/Swiss-Prot),   A0A024RAL7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001180277   ⟸   NM_001193348
- Peptide Label: isoform 4
- UniProtKB: Q06413 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001180278   ⟸   NM_001193349
- Peptide Label: isoform 5
- UniProtKB: Q06413 (UniProtKB/Swiss-Prot),   D8L7E9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005248568   ⟸   XM_005248511
- Peptide Label: isoform X1
- UniProtKB: Q06413 (UniProtKB/Swiss-Prot),   A0A024RAL7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006714688   ⟸   XM_006714625
- Peptide Label: isoform X9
- UniProtKB: Q06413 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011541698   ⟸   XM_011543396
- Peptide Label: isoform X1
- UniProtKB: Q06413 (UniProtKB/Swiss-Prot),   A0A024RAL7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541699   ⟸   XM_011543397
- Peptide Label: isoform X2
- UniProtKB: A0A0D9SGI5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001294931   ⟸   NM_001308002
- Peptide Label: isoform 6
- UniProtKB: Q06413 (UniProtKB/Swiss-Prot),   A0A024RAL6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016864967   ⟸   XM_017009478
- Peptide Label: isoform X4
- UniProtKB: Q06413 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016864964   ⟸   XM_017009475
- Peptide Label: isoform X2
- UniProtKB: A0A0D9SGI5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024301825   ⟸   XM_024446057
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024301823   ⟸   XM_024446055
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024301826   ⟸   XM_024446058
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024301827   ⟸   XM_024446059
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024301824   ⟸   XM_024446056
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001351258   ⟸   NM_001364329
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001351259   ⟸   NM_001364330
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001351262   ⟸   NM_001364333
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001351273   ⟸   NM_001364344
- Peptide Label: isoform 11
RefSeq Acc Id: NP_001351260   ⟸   NM_001364331
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001351282   ⟸   NM_001364353
- Peptide Label: isoform 15
RefSeq Acc Id: NP_001351274   ⟸   NM_001364345
- Peptide Label: isoform 12
RefSeq Acc Id: NP_001351283   ⟸   NM_001364354
- Peptide Label: isoform 16
RefSeq Acc Id: NP_001351281   ⟸   NM_001364352
- Peptide Label: isoform 14
RefSeq Acc Id: NP_001351278   ⟸   NM_001364349
- Peptide Label: isoform 13
RefSeq Acc Id: NP_001351276   ⟸   NM_001364347
- Peptide Label: isoform 12
RefSeq Acc Id: NP_001351284   ⟸   NM_001364355
- Peptide Label: isoform 16
RefSeq Acc Id: NP_001351277   ⟸   NM_001364348
- Peptide Label: isoform 13
RefSeq Acc Id: NP_001351275   ⟸   NM_001364346
- Peptide Label: isoform 12
RefSeq Acc Id: NP_001351263   ⟸   NM_001364334
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001351264   ⟸   NM_001364335
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001351261   ⟸   NM_001364332
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001351272   ⟸   NM_001364343
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001351267   ⟸   NM_001364338
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001351268   ⟸   NM_001364339
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001351266   ⟸   NM_001364337
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001351269   ⟸   NM_001364340
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001351265   ⟸   NM_001364336
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001351271   ⟸   NM_001364342
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001351270   ⟸   NM_001364341
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001351279   ⟸   NM_001364350
- Peptide Label: isoform 13
RefSeq Acc Id: NP_001351286   ⟸   NM_001364357
- Peptide Label: isoform 18
RefSeq Acc Id: NP_001351285   ⟸   NM_001364356
- Peptide Label: isoform 17
RefSeq Acc Id: NP_001350510   ⟸   NM_001363581
- Peptide Label: isoform 7
RefSeq Acc Id: ENSP00000389610   ⟸   ENST00000424173
RefSeq Acc Id: ENSP00000427163   ⟸   ENST00000502983
RefSeq Acc Id: ENSP00000427286   ⟸   ENST00000502831
RefSeq Acc Id: ENSP00000426465   ⟸   ENST00000503075
RefSeq Acc Id: ENSP00000487437   ⟸   ENST00000503554
RefSeq Acc Id: ENSP00000490525   ⟸   ENST00000635898
RefSeq Acc Id: ENSP00000489865   ⟸   ENST00000636541
RefSeq Acc Id: ENSP00000490473   ⟸   ENST00000636294
RefSeq Acc Id: ENSP00000490630   ⟸   ENST00000636998
RefSeq Acc Id: ENSP00000421925   ⟸   ENST00000504921
RefSeq Acc Id: ENSP00000490354   ⟸   ENST00000637481
RefSeq Acc Id: ENSP00000490241   ⟸   ENST00000637732
RefSeq Acc Id: ENSP00000423656   ⟸   ENST00000506716
RefSeq Acc Id: ENSP00000425636   ⟸   ENST00000506554
RefSeq Acc Id: ENSP00000487538   ⟸   ENST00000625585
RefSeq Acc Id: ENSP00000487430   ⟸   ENST00000625674
RefSeq Acc Id: ENSP00000424331   ⟸   ENST00000507984
RefSeq Acc Id: ENSP00000423597   ⟸   ENST00000508569
RefSeq Acc Id: ENSP00000426442   ⟸   ENST00000508610
RefSeq Acc Id: ENSP00000487184   ⟸   ENST00000626391
RefSeq Acc Id: ENSP00000427309   ⟸   ENST00000509373
RefSeq Acc Id: ENSP00000487157   ⟸   ENST00000627170
RefSeq Acc Id: ENSP00000486932   ⟸   ENST00000627717
RefSeq Acc Id: ENSP00000486490   ⟸   ENST00000627659
RefSeq Acc Id: ENSP00000487311   ⟸   ENST00000628656
RefSeq Acc Id: ENSP00000486554   ⟸   ENST00000629612
RefSeq Acc Id: ENSP00000422390   ⟸   ENST00000510942
RefSeq Acc Id: ENSP00000340874   ⟸   ENST00000340208
RefSeq Acc Id: ENSP00000485972   ⟸   ENST00000631026
RefSeq Acc Id: ENSP00000423826   ⟸   ENST00000513252
RefSeq Acc Id: ENSP00000426665   ⟸   ENST00000514028
RefSeq Acc Id: ENSP00000424606   ⟸   ENST00000514015
RefSeq Acc Id: ENSP00000396219   ⟸   ENST00000437473
Protein Domains
MADS-box

Promoters
RGD ID:6803365
Promoter ID:HG_KWN:50638
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:UC003KJI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36588,155,336 - 88,156,022 (-)MPROMDB
RGD ID:6812781
Promoter ID:HG_ACW:64386
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:MEF2C.FAPR07,   PLOJA.AAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36588,158,669 - 88,159,169 (-)MPROMDB
RGD ID:6803361
Promoter ID:HG_KWN:50639
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000340208,   NM_002397,   UC003KJK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36588,214,731 - 88,215,807 (-)MPROMDB
RGD ID:6870068
Promoter ID:EPDNEW_H8199
Type:initiation region
Name:MEF2C_1
Description:myocyte enhancer factor 2C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8200  EPDNEW_H8201  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,883,184 - 88,883,244EPDNEW
RGD ID:6870070
Promoter ID:EPDNEW_H8200
Type:initiation region
Name:MEF2C_2
Description:myocyte enhancer factor 2C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8199  EPDNEW_H8201  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,883,447 - 88,883,507EPDNEW
RGD ID:6870072
Promoter ID:EPDNEW_H8201
Type:initiation region
Name:MEF2C_3
Description:myocyte enhancer factor 2C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8199  EPDNEW_H8200  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38588,904,082 - 88,904,142EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002397.5(MEF2C):c.447G>C (p.Val149=) single nucleotide variant Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV000528675] Chr5:88751999 [GRCh38]
Chr5:88047816 [GRCh37]
Chr5:5q14.3
likely benign
NM_002397.5(MEF2C):c.21G>T (p.Gln7His) single nucleotide variant Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV000551180] Chr5:88823768 [GRCh38]
Chr5:88119585 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002397.5(MEF2C):c.99dup (p.Glu34Ter) duplication Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV000033230] Chr5:88804756..88804757 [GRCh38]
Chr5:88100573..88100574 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002397.5(MEF2C):c.458del (p.Asn153fs) deletion Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV000033232] Chr5:88751988 [GRCh38]
Chr5:88047805 [GRCh37]
Chr5:5q14.3
pathogenic
NC_000005.9:g.88142510_88347193del204684insG indel Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV000735228] Chr5:88846693..89051376 [GRCh38]
Chr5:88142510..88347193 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002397.5(MEF2C):c.258+2T>G single nucleotide variant not provided [RCV000519354] Chr5:88804596 [GRCh38]
Chr5:88100413 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002397.5(MEF2C):c.252C>T (p.Ile84=) single nucleotide variant Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV001454128]|not provided [RCV000576175] Chr5:88804604 [GRCh38]
Chr5:88100421 [GRCh37]
Chr5:5q14.3
likely benign
null single nucleotide variant History of neurodevelopmental disorder [RCV000717921]|Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV000576232]|not provided [RCV001619798]|not specified [RCV000728150] Chr5:88804676 [GRCh38]
Chr5:88100493 [GRCh37]
Chr5:5q14.3
benign|likely benign
NM_002397.5(MEF2C):c.614_626delinsGTCTCCAC (p.Thr205fs) indel Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV000576280] Chr5:88749081..88749093 [GRCh38]
Chr5:88044898..88044910 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002397.5(MEF2C):c.683C>G (p.Ser228Ter) single nucleotide variant Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV000009503] Chr5:88731856 [GRCh38]
Chr5:88027673 [GRCh37]
Chr5:5q14.3
pathogenic
NM_001131005.2(MEF2C):c.397-2990G>T single nucleotide variant Lung cancer [RCV000096270] Chr5:88755033 [GRCh38]
Chr5:88050850 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_001131005.2(MEF2C):c.258+17255G>C single nucleotide variant Lung cancer [RCV000096271] Chr5:88787343 [GRCh38]
Chr5:88083160 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_001131005.2(MEF2C):c.258+17234C>T single nucleotide variant Lung cancer [RCV000096272] Chr5:88787364 [GRCh38]
Chr5:88083181 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_001131005.2(MEF2C):c.-142-19398A>T single nucleotide variant Lung cancer [RCV000096273] Chr5:88843328 [GRCh38]
Chr5:88139145 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002397.5(MEF2C):c.113T>A (p.Leu38Gln) single nucleotide variant Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV000033229] Chr5:88804743 [GRCh38]
Chr5:88100560 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002397.5(MEF2C):c.80G>C (p.Gly27Ala) single nucleotide variant Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV000033231] Chr5:88804776 [GRCh38]
Chr5:88100593 [GRCh37]
Chr5:5q14.3
pathogenic
GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1 copy number loss See cases [RCV000050945] Chr5:87376883..101524443 [GRCh38]
Chr5:86672700..100860147 [GRCh37]
Chr5:86708456..100888046 [NCBI36]
Chr5:5q14.3-21.1
pathogenic
GRCh38/hg38 5q14.3(chr5:85876480-88958682)x1 copy number loss See cases [RCV000051010] Chr5:85876480..88958682 [GRCh38]
Chr5:85172298..88254499 [GRCh37]
Chr5:85208054..88290255 [NCBI36]
Chr5:5q14.3
pathogenic
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 copy number gain See cases [RCV000051839] Chr5:74163186..110809453 [GRCh38]
Chr5:73459011..110145153 [GRCh37]
Chr5:73494767..110173052 [NCBI36]
Chr5:5q13.3-22.1
pathogenic
GRCh38/hg38 5q14.3-15(chr5:87124838-93383020)x3 copy number gain See cases [RCV000051840] Chr5:87124838..93383020 [GRCh38]
Chr5:86420655..92718726 [GRCh37]
Chr5:86456411..92744482 [NCBI36]
Chr5:5q14.3-15
pathogenic
GRCh38/hg38 5q14.3(chr5:86343721-88779835)x1 copy number loss See cases [RCV000053475] Chr5:86343721..88779835 [GRCh38]
Chr5:85639539..88075652 [GRCh37]
Chr5:85675295..88111408 [NCBI36]
Chr5:5q14.3
pathogenic
GRCh38/hg38 5q14.3(chr5:86743723-92337264)x1 copy number loss See cases [RCV000053477] Chr5:86743723..92337264 [GRCh38]
Chr5:86039540..91633081 [GRCh37]
Chr5:86075296..91668837 [NCBI36]
Chr5:5q14.3
pathogenic
GRCh38/hg38 5q14.3(chr5:88720397-89487275)x1 copy number loss See cases [RCV000053478] Chr5:88720397..89487275 [GRCh38]
Chr5:88016214..88783092 [GRCh37]
Chr5:88051970..88818848 [NCBI36]
Chr5:5q14.3
pathogenic
GRCh38/hg38 5q14.3(chr5:88854849-89268660)x1 copy number loss See cases [RCV000053479] Chr5:88854849..89268660 [GRCh38]
Chr5:88150666..88564477 [GRCh37]
Chr5:88186422..88600233 [NCBI36]
Chr5:5q14.3
pathogenic
NM_002397.5(MEF2C):c.236G>C (p.Arg79Pro) single nucleotide variant not provided [RCV000658068] Chr5:88804620 [GRCh38]
Chr5:88100437 [GRCh37]
Chr5:5q14.3
likely pathogenic
NM_002397.5(MEF2C):c.585C>T (p.Asn195=) single nucleotide variant Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV000146363]|not provided [RCV000723585] Chr5:88751861 [GRCh38]
Chr5:88047678 [GRCh37]
Chr5:5q14.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002397.5(MEF2C):c.312C>T (p.Asp104=) single nucleotide variant Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV001503586]|not provided [RCV000548141]|not specified [RCV000126732] Chr5:88761275 [GRCh38]
Chr5:88057092 [GRCh37]
Chr5:5q14.3
benign|likely benign
NM_002397.5(MEF2C):c.642C>T (p.Asn214=) single nucleotide variant Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV000576205]|not specified [RCV000126733] Chr5:88731897 [GRCh38]
Chr5:88027714 [GRCh37]
Chr5:5q14.3
benign|likely benign|uncertain significance
NM_002397.5(MEF2C):c.811-12G>A single nucleotide variant not specified [RCV000126734] Chr5:88730246 [GRCh38]
Chr5:88026063 [GRCh37]
Chr5:5q14.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002397.5(MEF2C):c.834+15C>T single nucleotide variant not specified [RCV000126735] Chr5:88730196 [GRCh38]
Chr5:88026013 [GRCh37]
Chr5:5q14.3
benign
NM_002397.5(MEF2C):c.1319G>A (p.Arg440Gln) single nucleotide variant Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV001332879] Chr5:88722707 [GRCh38]
Chr5:88018524 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002397.5(MEF2C):c.478C>T (p.Pro160Ser) single nucleotide variant Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV001348601] Chr5:88751968 [GRCh38]
Chr5:88047785 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002397.5(MEF2C):c.1403C>T (p.Ser468Phe) single nucleotide variant Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV000146361] Chr5:88722623 [GRCh38]
Chr5:88018440 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter) single nucleotide variant Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV000146362]|not provided [RCV000578993] Chr5:88751881 [GRCh38]
Chr5:88047698 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002397.5(MEF2C):c.810+10A>T single nucleotide variant Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV001460773]|not specified [RCV000146365] Chr5:88731719 [GRCh38]
Chr5:88027536 [GRCh37]
Chr5:5q14.3
likely benign|uncertain significance
NM_002397.5(MEF2C):c.833del (p.Leu277_Leu278insTer) deletion Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV000146367]|not provided [RCV000255477] Chr5:88730212 [GRCh38]
Chr5:88026029 [GRCh37]
Chr5:5q14.3
pathogenic
GRCh38/hg38 5q14.3-21.1(chr5:85966055-101335711)x1 copy number loss See cases [RCV000135748] Chr5:85966055..101335711 [GRCh38]
Chr5:85261873..100671415 [GRCh37]
Chr5:85297629..100699314 [NCBI36]
Chr5:5q14.3-21.1
pathogenic
GRCh38/hg38 5q14.3(chr5:87191898-89957449)x1 copy number loss See cases [RCV000135596] Chr5:87191898..89957449 [GRCh38]
Chr5:86487715..89253266 [GRCh37]
Chr5:86523471..89289022 [NCBI36]
Chr5:5q14.3
pathogenic
GRCh38/hg38 5q14.3(chr5:88766680-89732281)x1 copy number loss See cases [RCV000136078] Chr5:88766680..89732281 [GRCh38]
Chr5:88062497..89028098 [GRCh37]
Chr5:88098253..89063854 [NCBI36]
Chr5:5q14.3
pathogenic
GRCh38/hg38 5q14.3-15(chr5:88197732-93193163)x3 copy number gain See cases [RCV000136732] Chr5:88197732..93193163 [GRCh38]
Chr5:87493549..92528869 [GRCh37]
Chr5:87529305..92554625 [NCBI36]
Chr5:5q14.3-15
pathogenic
GRCh38/hg38 5q14.3(chr5:88766676-88808855)x1 copy number loss See cases [RCV000138231] Chr5:88766676..88808855 [GRCh38]
Chr5:88062493..88104672 [GRCh37]
Chr5:88098249..88140428 [NCBI36]
Chr5:5q14.3
pathogenic
GRCh38/hg38 5q14.3(chr5:88744060-88749622)x1 copy number loss See cases [RCV000139230] Chr5:88744060..88749622 [GRCh38]
Chr5:88039877..88045439 [GRCh37]
Chr5:88075633..88081195 [NCBI36]
Chr5:5q14.3
pathogenic
GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1 copy number loss See cases [RCV000139656] Chr5:84603580..111435081 [GRCh38]
Chr5:83899398..110770779 [GRCh37]
Chr5:83935154..110798678 [NCBI36]
Chr5:5q14.3-22.1
pathogenic
GRCh38/hg38 5q14.3(chr5:86766959-92148845)x1 copy number loss See cases [RCV000141419] Chr5:86766959..92148845 [GRCh38]
Chr5:86062776..91444662 [GRCh37]
Chr5:86098532..91480418 [NCBI36]
Chr5:5q14.3
pathogenic
GRCh38/hg38 5q14.3(chr5:88368289-92363231)x1 copy number loss See cases [RCV000140963] Chr5:88368289..92363231 [GRCh38]
Chr5:87664106..91698938 [GRCh37]
Chr5:87699862..91724694 [NCBI36]
Chr5:5q14.3
pathogenic
NM_002397.5(MEF2C):c.926dup (p.Gly310fs) duplication not provided [RCV000153485] Chr5:88729255..88729256 [GRCh38]
Chr5:88025072..88025073 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002397.5(MEF2C):c.363C>T (p.Asn121=) single nucleotide variant Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV000866543]|not provided [RCV001704849]|not specified [RCV000188131] Chr5:88761224 [GRCh38]
Chr5:88057041 [GRCh37]
Chr5:5q14.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002397.5(MEF2C):c.1207A>G (p.Thr403Ala) single nucleotide variant not provided [RCV000725072]|not specified [RCV000194560] Chr5:88722819 [GRCh38]
Chr5:88018636 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002397.5(MEF2C):c.489A>G (p.Ser163=) single nucleotide variant Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV001460086]|not provided [RCV000178863] Chr5:88751957 [GRCh38]
Chr5:88047774 [GRCh37]
Chr5:5q14.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002397.5(MEF2C):c.759A>G (p.Pro253=) single nucleotide variant Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV000648314]|not provided [RCV000179847] Chr5:88731780 [GRCh38]
Chr5:88027597 [GRCh37]
Chr5:5q14.3
likely benign|uncertain significance
NM_002397.5(MEF2C):c.121T>C (p.Cys41Arg) single nucleotide variant not provided [RCV000177153] Chr5:88804735 [GRCh38]
Chr5:88100552 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_001131005.2(MEF2C):c.-143+4481T>C single nucleotide variant Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations [RCV000264630] Chr5:88883021 [GRCh38]
Chr5:88178838 [GRCh37]
Chr5:5q14.3
likely benign
NM_002397.5(MEF2C):c.2T>C (p.Met1Thr) single nucleotide variant Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV000192846]|not provided [RCV000254756] Chr5:88823787 [GRCh38]
Chr5:88119604 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg) single nucleotide variant Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV000191104] Chr5:88804788 [GRCh38]
Chr5:88100605 [GRCh37]
Chr5:5q14.3
likely pathogenic
NM_002397.5(MEF2C):c.1021G>A (p.Ala341Thr) single nucleotide variant Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV001340866]|not specified [RCV000193723] Chr5:88728572 [GRCh38]
Chr5:88024389 [GRCh37]
Chr5:5q14.3
likely benign|uncertain significance
NM_002397.4(MEF2C):c.743T>C (p.Met248Thr) single nucleotide variant not specified [RCV000188136] Chr5:88731796 [GRCh38]
Chr5:88027613 [GRCh37]
Chr5:5q14.3
likely benign
NM_002397.4(MEF2C):c.258G>A (p.Glu86=) single nucleotide variant not provided [RCV000188140] Chr5:88804598 [GRCh38]
Chr5:88100415 [GRCh37]
Chr5:5q14.3
pathogenic
NM_002397.4(MEF2C):c.523C>T (p.Pro175Ser) single nucleotide variant not provided [RCV000188141] Chr5:88751923 [GRCh38]
Chr5:88047740 [GRCh37]
Chr5:5q14.3
likely pathogenic
NM_002397.5(MEF2C):c.980G>C (p.Ser327Thr) single nucleotide variant Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV000576225]|not provided [RCV000767165]|not specified [RCV000188143] Chr5:88728613 [GRCh38]
Chr5:88024430 [GRCh37]
Chr5:5q14.3
likely benign|uncertain significance
NM_002397.5(MEF2C):c.1029C>G (p.His343Gln) single nucleotide variant Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [RCV001515418]|not provided [RCV000188144] Chr5:88728564 [GRCh38]
Chr5:88024381 [GRCh37]
Chr5:5q14.3
benign|uncertain significance
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys) single nucleotide variant Autism spectrum disorder [RCV001291376]|not provided [RCV000188145] Chr5:88823746 [GRCh38]
Chr5:88119563 [GRCh37]
Chr5:5q14.3
pathogenic|likely pathogenic
NM_002397.5(MEF2C):c.115T>C (p.Cys39Arg) single nucleotide variant not provided [RCV000188146] Chr5:88804741 [GRCh38]
Chr5:88100558 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002397.4(MEF2C):c.177C>A (p.Ser59Arg) single nucleotide variant not specified [RCV000188147] Chr5:88804679 [GRCh38]
Chr5:88100496 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002397.4(MEF2C):c.97_99dupTAT (p.Tyr33_Glu34insTyr) duplication not specified [RCV000188148] Chr5:88804757..88804759 [GRCh38]
Chr5:88100574..88100576 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002397.5(MEF2C):c.120_125dup (p.Asp40_Cys41dup) duplication not specified [RCV000188149] Chr5:88804730..88804731 [GRCh38]
Chr5:88100547..88100548 [GRCh37]
Chr5:5q14.3
uncertain significance
NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter) single nucleotide variant Autism spectrum disorder [RCV000754665]|Intellectual disability [RCV001257689]