EED (embryonic ectoderm development) - Rat Genome Database

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Gene: EED (embryonic ectoderm development) Homo sapiens
Analyze
Symbol: EED
Name: embryonic ectoderm development
RGD ID: 1320306
HGNC Page HGNC:3188
Description: Enables enzyme activator activity; identical protein binding activity; and transcription corepressor binding activity. Predicted to be involved in facultative heterochromatin formation and negative regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including cellular response to leukemia inhibitory factor; genomic imprinting; and regulation of adaxial/abaxial pattern formation. Located in cytosol and nucleoplasm. Part of ESC/E(Z) complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: COGIS; HEED; polycomb protein EED; WAIT1; WD protein associating with integrin cytoplasmic tails 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: EEDP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381186,244,753 - 86,287,615 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1186,201,212 - 86,279,807 (+)EnsemblGRCh38hg38GRCh38
GRCh371185,955,795 - 85,989,852 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361185,633,463 - 85,667,429 (+)NCBINCBI36Build 36hg18NCBI36
Build 341185,633,462 - 85,667,426NCBI
Celera1183,265,529 - 83,300,439 (+)NCBICelera
Cytogenetic Map11q14.2NCBI
HuRef1182,243,000 - 82,278,147 (+)NCBIHuRef
CHM1_11185,841,580 - 85,875,590 (+)NCBICHM1_1
T2T-CHM13v2.01186,186,227 - 86,228,460 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Early activation of nSMase2/ceramide pathway in astrocytes is involved in ischemia-associated neuronal damage via inflammation in rat hippocampi. Gu L, etal., J Neuroinflammation. 2013 Sep 3;10:109. doi: 10.1186/1742-2094-10-109.
3. Accumulation of malignant renal stem cells is associated with epigenetic changes in normal renal progenitor genes. Metsuyanim S, etal., Stem Cells. 2008 Jul;26(7):1808-17. doi: 10.1634/stemcells.2007-0322. Epub 2008 May 8.
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9566901   PMID:9584197   PMID:9584199   PMID:9742080   PMID:9765275   PMID:9806832   PMID:9880543   PMID:10581039   PMID:11124122   PMID:11158321   PMID:12351676   PMID:12435631  
PMID:12477932   PMID:12788942   PMID:12943661   PMID:14610174   PMID:14759364   PMID:15225548   PMID:15385962   PMID:15536069   PMID:15638726   PMID:15875659   PMID:15882624   PMID:16075307  
PMID:16314526   PMID:16344560   PMID:16357870   PMID:16431907   PMID:17041588   PMID:17210640   PMID:17547741   PMID:17560333   PMID:17804093   PMID:17937919   PMID:18285464   PMID:18302803  
PMID:18483221   PMID:18931660   PMID:19026780   PMID:19026781   PMID:19578722   PMID:19767730   PMID:20075857   PMID:20080539   PMID:20211142   PMID:20543829   PMID:20800574   PMID:20974918  
PMID:21078963   PMID:21123648   PMID:21135039   PMID:21143197   PMID:21190999   PMID:21513699   PMID:21530438   PMID:21540835   PMID:21873635   PMID:21900206   PMID:22009739   PMID:22094255  
PMID:22271413   PMID:22308284   PMID:22315224   PMID:22439931   PMID:22659877   PMID:22733077   PMID:22897849   PMID:23104054   PMID:23238014   PMID:23273982   PMID:23280602   PMID:23317503  
PMID:23624935   PMID:23709348   PMID:23982173   PMID:24320048   PMID:24457600   PMID:24981860   PMID:25240281   PMID:25264103   PMID:25326896   PMID:25391650   PMID:26167880   PMID:26186194  
PMID:26344197   PMID:26496610   PMID:26748827   PMID:27000413   PMID:27114453   PMID:27193220   PMID:27338022   PMID:27634302   PMID:27705803   PMID:27868325   PMID:28068325   PMID:28229514  
PMID:28242625   PMID:28319085   PMID:28320739   PMID:28481362   PMID:28514442   PMID:29410511   PMID:29415665   PMID:29478914   PMID:29509190   PMID:29628311   PMID:29669287   PMID:29754954  
PMID:29846670   PMID:30021884   PMID:30404791   PMID:30595380   PMID:30628724   PMID:30737378   PMID:30779601   PMID:30793471   PMID:30804502   PMID:30858506   PMID:30891497   PMID:30973693  
PMID:31023785   PMID:31091453   PMID:31281901   PMID:31391242   PMID:31395608   PMID:31527584   PMID:31586073   PMID:31724824   PMID:31786184   PMID:31948940   PMID:32296183   PMID:32416067  
PMID:32694731   PMID:32780723   PMID:32807901   PMID:32814053   PMID:33156908   PMID:33226137   PMID:33301849   PMID:33754075   PMID:33849069   PMID:33882457   PMID:33957083   PMID:33961781  
PMID:34079125   PMID:34163012   PMID:34544341   PMID:34591612   PMID:35013218   PMID:35016035   PMID:35182466   PMID:35210568   PMID:35256949   PMID:35271311   PMID:35509820   PMID:35636260  
PMID:35906200   PMID:35915203   PMID:35944360   PMID:36089195   PMID:36215168   PMID:36517590   PMID:36652389   PMID:37071682   PMID:37507137   PMID:37689310   PMID:37827155   PMID:37840385  
PMID:38031139  


Genomics

Comparative Map Data
EED
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381186,244,753 - 86,287,615 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1186,201,212 - 86,279,807 (+)EnsemblGRCh38hg38GRCh38
GRCh371185,955,795 - 85,989,852 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361185,633,463 - 85,667,429 (+)NCBINCBI36Build 36hg18NCBI36
Build 341185,633,462 - 85,667,426NCBI
Celera1183,265,529 - 83,300,439 (+)NCBICelera
Cytogenetic Map11q14.2NCBI
HuRef1182,243,000 - 82,278,147 (+)NCBIHuRef
CHM1_11185,841,580 - 85,875,590 (+)NCBICHM1_1
T2T-CHM13v2.01186,186,227 - 86,228,460 (+)NCBIT2T-CHM13v2.0
Eed
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39789,603,862 - 89,630,184 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl789,603,862 - 89,630,191 (-)EnsemblGRCm39 Ensembl
GRCm38789,954,654 - 89,980,976 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl789,954,654 - 89,980,983 (-)EnsemblGRCm38mm10GRCm38
MGSCv37797,103,164 - 97,129,486 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36789,829,868 - 89,857,005 (-)NCBIMGSCv36mm8
Celera787,275,683 - 87,302,613 (-)NCBICelera
Cytogenetic Map7D3NCBI
cM Map750.42NCBI
Eed
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81153,280,419 - 153,307,537 (-)NCBIGRCr8
mRatBN7.21143,867,875 - 143,895,008 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1143,867,875 - 143,894,974 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1151,808,615 - 151,835,700 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01158,985,009 - 159,012,094 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01151,858,916 - 151,886,001 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01154,189,252 - 154,216,340 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1154,189,260 - 154,216,340 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01160,493,753 - 160,520,834 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41146,563,961 - 146,591,042 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11146,642,345 - 146,669,450 (-)NCBI
Celera1142,108,258 - 142,135,298 (-)NCBICelera
Cytogenetic Map1q32NCBI
Eed
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554146,659,055 - 6,685,530 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554146,659,144 - 6,685,530 (-)NCBIChiLan1.0ChiLan1.0
EED
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2987,159,183 - 87,197,608 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11188,210,050 - 88,248,464 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01181,295,068 - 81,330,321 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11184,902,330 - 84,937,906 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1184,902,330 - 84,937,906 (+)Ensemblpanpan1.1panPan2
EED
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12113,260,062 - 13,289,511 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2113,260,002 - 13,289,337 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2113,125,575 - 13,155,433 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02113,442,739 - 13,472,602 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2113,442,743 - 13,472,368 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12113,228,555 - 13,258,431 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02113,300,989 - 13,331,006 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02113,357,756 - 13,387,545 (-)NCBIUU_Cfam_GSD_1.0
Eed
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494772,451,606 - 72,483,821 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649814,051,045 - 14,083,570 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649814,050,731 - 14,082,410 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EED
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl920,123,857 - 20,158,816 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1920,123,077 - 20,158,747 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2922,382,548 - 22,417,549 (-)NCBISscrofa10.2Sscrofa10.2susScr3
EED
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1177,496,266 - 77,531,439 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl177,496,086 - 77,531,499 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604348,194,395 - 48,229,592 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Eed
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248453,679,096 - 3,712,176 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248453,679,163 - 3,712,153 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EED
111 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3 copy number gain See cases [RCV000050364] Chr11:84828563..86641166 [GRCh38]
Chr11:84539606..86352208 [GRCh37]
Chr11:84217254..86029856 [NCBI36]
Chr11:11q14.1-14.2		 uncertain significance
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1 copy number loss See cases [RCV000052710] Chr11:78232836..106779420 [GRCh38]
Chr11:77943882..106650146 [GRCh37]
Chr11:77621530..106155356 [NCBI36]
Chr11:11q14.1-22.3		 pathogenic
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1 copy number loss See cases [RCV000052711] Chr11:85242847..102920097 [GRCh38]
Chr11:84953891..102738968 [GRCh37]
Chr11:84631539..102296037 [NCBI36]
Chr11:11q14.1-22.2		 pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 copy number loss See cases [RCV000133838] Chr11:75941754..98357960 [GRCh38]
Chr11:75652798..98228688 [GRCh37]
Chr11:75330446..97733898 [NCBI36]
Chr11:11q13.5-22.1		 pathogenic
GRCh38/hg38 11q14.1-14.2(chr11:84828513-86641208)x3 copy number gain See cases [RCV000134108] Chr11:84828513..86641208 [GRCh38]
Chr11:84539556..86352250 [GRCh37]
Chr11:84217204..86029898 [NCBI36]
Chr11:11q14.1-14.2		 uncertain significance
GRCh38/hg38 11q14.1-14.2(chr11:84765986-86641166)x3 copy number gain See cases [RCV000139711] Chr11:84765986..86641166 [GRCh38]
Chr11:84477029..86352208 [GRCh37]
Chr11:84154677..86029856 [NCBI36]
Chr11:11q14.1-14.2		 likely pathogenic|uncertain significance
GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3 copy number gain See cases [RCV000148175] Chr11:84828563..86641166 [GRCh38]
Chr11:84539606..86352208 [GRCh37]
Chr11:84217254..86029856 [NCBI36]
Chr11:11q14.1-14.2		 uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)x1 copy number loss See cases [RCV000446395] Chr11:80318996..96116221 [GRCh37]
Chr11:11q14.1-21		 pathogenic
GRCh37/hg19 11q14.2(chr11:85977240-86037678)x3 copy number gain See cases [RCV000447390] Chr11:85977240..86037678 [GRCh37]
Chr11:11q14.2		 uncertain significance
GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)x1 copy number loss See cases [RCV000448436] Chr11:84924674..93574799 [GRCh37]
Chr11:11q14.1-21		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_003797.5(EED):c.772C>T (p.His258Tyr) single nucleotide variant Cohen-Gibson syndrome [RCV000494950] Chr11:86266128 [GRCh38]
Chr11:85977170 [GRCh37]
Chr11:11q14.2		 pathogenic|likely pathogenic
NM_003797.5(EED):c.904A>G (p.Arg302Gly) single nucleotide variant Cohen-Gibson syndrome [RCV000495365] Chr11:86268499 [GRCh38]
Chr11:85979541 [GRCh37]
Chr11:11q14.2		 pathogenic
NM_003797.5(EED):c.707G>C (p.Arg236Thr) single nucleotide variant Cohen-Gibson syndrome [RCV000495685] Chr11:86264244 [GRCh38]
Chr11:85975286 [GRCh37]
Chr11:11q14.2		 pathogenic
NM_003797.5(EED):c.906A>C (p.Arg302Ser) single nucleotide variant Cohen-Gibson syndrome [RCV000495739] Chr11:86268501 [GRCh38]
Chr11:85979543 [GRCh37]
Chr11:11q14.2		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_003797.5(EED):c.1062G>A (p.Gly354=) single nucleotide variant Cohen-Gibson syndrome [RCV000541361]|EED-related disorder [RCV003952907] Chr11:86277075 [GRCh38]
Chr11:85988117 [GRCh37]
Chr11:11q14.2		 benign|likely benign
NM_003797.5(EED):c.43A>G (p.Met15Val) single nucleotide variant Inborn genetic diseases [RCV003248201] Chr11:86245272 [GRCh38]
Chr11:85956314 [GRCh37]
Chr11:11q14.2		 uncertain significance
GRCh37/hg19 11q14.1-14.2(chr11:85506017-86930835)x3 copy number gain See cases [RCV000512406] Chr11:85506017..86930835 [GRCh37]
Chr11:11q14.1-14.2		 uncertain significance
NM_003797.5(EED):c.198A>G (p.Lys66=) single nucleotide variant Cohen-Gibson syndrome [RCV000655787]|not provided [RCV003884698] Chr11:86250379 [GRCh38]
Chr11:85961421 [GRCh37]
Chr11:11q14.2		 likely benign
Single allele deletion Exudative vitreoretinopathy 1 [RCV000677964] Chr11:83315294..86755595 [GRCh37]
Chr11:11q14.1-14.2		 pathogenic
GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187) copy number loss Intellectual disability [RCV000721939] Chr11:81771852..90851187 [GRCh37]
Chr11:11q14.1-14.3		 pathogenic
NM_003797.5(EED):c.438C>G (p.Asn146Lys) single nucleotide variant Cohen-Gibson syndrome [RCV000699978] Chr11:86256398 [GRCh38]
Chr11:85967440 [GRCh37]
Chr11:11q14.2		 uncertain significance
GRCh37/hg19 11q14.2(chr11:85689406-86208902)x3 copy number gain not provided [RCV000683340] Chr11:85689406..86208902 [GRCh37]
Chr11:11q14.2		 uncertain significance
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3		 pathogenic
NM_003797.5(EED):c.1097T>C (p.Met366Thr) single nucleotide variant Cohen-Gibson syndrome [RCV000708568] Chr11:86277110 [GRCh38]
Chr11:85988152 [GRCh37]
Chr11:11q14.2		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 copy number loss not provided [RCV000737595] Chr11:80053454..113316236 [GRCh37]
Chr11:11q14.1-23.2		 pathogenic
GRCh37/hg19 11q14.1-21(chr11:83179196-94716998)x3 copy number gain not provided [RCV000750120] Chr11:83179196..94716998 [GRCh37]
Chr11:11q14.1-21		 pathogenic
NM_003797.5(EED):c.967-204A>C single nucleotide variant not provided [RCV001667647] Chr11:86276776 [GRCh38]
Chr11:85987818 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.96C>T (p.Asp32=) single nucleotide variant Cohen-Gibson syndrome [RCV000980323] Chr11:86245325 [GRCh38]
Chr11:85956367 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.966+1585C>T single nucleotide variant not provided [RCV000994693] Chr11:86270146 [GRCh38]
Chr11:85981188 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.267+141del deletion not provided [RCV001689457] Chr11:86250579 [GRCh38]
Chr11:85961621 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.861-228T>G single nucleotide variant not provided [RCV001609496] Chr11:86268228 [GRCh38]
Chr11:85979270 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.1014T>C (p.Asp338=) single nucleotide variant not provided [RCV000879350] Chr11:86277027 [GRCh38]
Chr11:85988069 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.441T>C (p.Phe147=) single nucleotide variant Cohen-Gibson syndrome [RCV001858584] Chr11:86256401 [GRCh38]
Chr11:85967443 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.820A>G (p.Ile274Val) single nucleotide variant Cohen-Gibson syndrome [RCV000983832] Chr11:86266176 [GRCh38]
Chr11:85977218 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.1199+10T>C single nucleotide variant Cohen-Gibson syndrome [RCV000945506]|EED-related disorder [RCV003942983] Chr11:86278001 [GRCh38]
Chr11:85989043 [GRCh37]
Chr11:11q14.2		 benign|likely benign
NM_003797.5(EED):c.148A>C (p.Thr50Pro) single nucleotide variant Cohen-Gibson syndrome [RCV000981790]|EED-related disorder [RCV003953382]|Inborn genetic diseases [RCV004030060] Chr11:86250329 [GRCh38]
Chr11:85961371 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.880A>G (p.Ile294Val) single nucleotide variant Cohen-Gibson syndrome [RCV000816549] Chr11:86268475 [GRCh38]
Chr11:85979517 [GRCh37]
Chr11:11q14.2		 uncertain significance
GRCh37/hg19 11q14.2(chr11:85774745-85990954)x3 copy number gain not provided [RCV001006427] Chr11:85774745..85990954 [GRCh37]
Chr11:11q14.2		 uncertain significance
GRCh37/hg19 11q14.1-14.2(chr11:83530179-87059742)x1 copy number loss not provided [RCV001006422] Chr11:83530179..87059742 [GRCh37]
Chr11:11q14.1-14.2		 pathogenic
NM_003797.5(EED):c.727-6A>G single nucleotide variant not provided [RCV000914925] Chr11:86266077 [GRCh38]
Chr11:85977119 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.73A>G (p.Ser25Gly) single nucleotide variant Cohen-Gibson syndrome [RCV001197531] Chr11:86245302 [GRCh38]
Chr11:85956344 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.1133C>T (p.Ala378Val) single nucleotide variant Cohen-Gibson syndrome [RCV000988621] Chr11:86277925 [GRCh38]
Chr11:85988967 [GRCh37]
Chr11:11q14.2		 likely pathogenic
NM_003797.5(EED):c.767T>C (p.Met256Thr) single nucleotide variant Autism spectrum disorder [RCV003127305] Chr11:86266123 [GRCh38]
Chr11:85977165 [GRCh37]
Chr11:11q14.2		 likely pathogenic
NM_003797.5(EED):c.267+156G>A single nucleotide variant not provided [RCV001666367] Chr11:86250604 [GRCh38]
Chr11:85961646 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.553-157del deletion not provided [RCV001672110] Chr11:86257341 [GRCh38]
Chr11:85968383 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.1215T>G (p.Thr405=) single nucleotide variant not provided [RCV000905002] Chr11:86278414 [GRCh38]
Chr11:85989456 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.1199+8_1199+11del deletion Cohen-Gibson syndrome [RCV000951608]|EED-related disorder [RCV004754646]|not provided [RCV003389852] Chr11:86277997..86278000 [GRCh38]
Chr11:85989039..85989042 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.9G>T (p.Glu3Asp) single nucleotide variant Cohen-Gibson syndrome [RCV001049094] Chr11:86245238 [GRCh38]
Chr11:85956280 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.27G>A (p.Ala9=) single nucleotide variant not provided [RCV000891275] Chr11:86245256 [GRCh38]
Chr11:85956298 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.427-131A>G single nucleotide variant not provided [RCV001658960] Chr11:86256256 [GRCh38]
Chr11:85967298 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.553-192C>T single nucleotide variant not provided [RCV001608225] Chr11:86257323 [GRCh38]
Chr11:85968365 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.966+34GT[20] microsatellite not provided [RCV001538756] Chr11:86268594..86268595 [GRCh38]
Chr11:85979636..85979637 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.966+75C>T single nucleotide variant not provided [RCV001678195] Chr11:86268636 [GRCh38]
Chr11:85979678 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.268-43G>A single nucleotide variant not provided [RCV001597902] Chr11:86252105 [GRCh38]
Chr11:85963147 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.966+34GT[21] microsatellite not provided [RCV001677168] Chr11:86268594..86268595 [GRCh38]
Chr11:85979636..85979637 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.115-172C>T single nucleotide variant not provided [RCV001616057] Chr11:86250124 [GRCh38]
Chr11:85961166 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.726+177TATT[5] microsatellite not provided [RCV001694712] Chr11:86264439..86264440 [GRCh38]
Chr11:85975481..85975482 [GRCh37]
Chr11:11q14.2		 benign
NC_000011.10:g.86244421G>C single nucleotide variant not provided [RCV001682063] Chr11:86244421 [GRCh38]
Chr11:85955463 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.966+34GT[17] microsatellite not provided [RCV001616434] Chr11:86268594..86268595 [GRCh38]
Chr11:85979636..85979637 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.966+34GT[19] microsatellite not provided [RCV001540284] Chr11:86268594..86268595 [GRCh38]
Chr11:85979636..85979637 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.552+155G>A single nucleotide variant not provided [RCV001690845] Chr11:86256667 [GRCh38]
Chr11:85967709 [GRCh37]
Chr11:11q14.2		 benign
GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3 copy number gain not provided [RCV001006426] Chr11:84830143..92029933 [GRCh37]
Chr11:11q14.1-14.3		 pathogenic
NM_003797.5(EED):c.532A>G (p.Ile178Val) single nucleotide variant Cohen-Gibson syndrome [RCV001247531]|EED-related disorder [RCV004754715]|not provided [RCV004692335] Chr11:86256492 [GRCh38]
Chr11:85967534 [GRCh37]
Chr11:11q14.2		 benign|uncertain significance
NM_003797.5(EED):c.50C>T (p.Ala17Val) single nucleotide variant Cohen-Gibson syndrome [RCV001258333]|not provided [RCV003393928] Chr11:86245279 [GRCh38]
Chr11:85956321 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.11G>A (p.Arg4Lys) single nucleotide variant Cohen-Gibson syndrome [RCV001309293] Chr11:86245240 [GRCh38]
Chr11:85956282 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.154C>T (p.Arg52Cys) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001374529] Chr11:86250335 [GRCh38]
Chr11:85961377 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.619C>T (p.Leu207=) single nucleotide variant Cohen-Gibson syndrome [RCV001511795]|not provided [RCV001615180] Chr11:86257581 [GRCh38]
Chr11:85968623 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.634+114G>C single nucleotide variant not provided [RCV001541416] Chr11:86257710 [GRCh38]
Chr11:85968752 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.966+34GT[15] microsatellite not provided [RCV001684144] Chr11:86268595..86268596 [GRCh38]
Chr11:85979637..85979638 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.361-87G>T single nucleotide variant not provided [RCV001615591] Chr11:86255135 [GRCh38]
Chr11:85966177 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.727-8G>A single nucleotide variant Cohen-Gibson syndrome [RCV001521849]|not provided [RCV001658223] Chr11:86266075 [GRCh38]
Chr11:85977117 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.78C>T (p.Asp26=) single nucleotide variant Cohen-Gibson syndrome [RCV001463512]|not provided [RCV004706188] Chr11:86245307 [GRCh38]
Chr11:85956349 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.966+66A>G single nucleotide variant not provided [RCV001670765] Chr11:86268627 [GRCh38]
Chr11:85979669 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.966+34GT[18] microsatellite not provided [RCV001648132] Chr11:86268594..86268595 [GRCh38]
Chr11:85979636..85979637 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.1275T>C (p.Leu425=) single nucleotide variant Cohen-Gibson syndrome [RCV001518599] Chr11:86278474 [GRCh38]
Chr11:85989516 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.1242A>G (p.Arg414=) single nucleotide variant Cohen-Gibson syndrome [RCV003107045] Chr11:86278441 [GRCh38]
Chr11:85989483 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.581A>G (p.Asn194Ser) single nucleotide variant Cohen-Gibson syndrome [RCV002273048]|not provided [RCV003322912] Chr11:86257543 [GRCh38]
Chr11:85968585 [GRCh37]
Chr11:11q14.2		 pathogenic|likely pathogenic
NM_003797.5(EED):c.749A>C (p.Lys250Thr) single nucleotide variant not provided [RCV001764823] Chr11:86266105 [GRCh38]
Chr11:85977147 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.550A>C (p.Lys184Gln) single nucleotide variant not provided [RCV001767303] Chr11:86256510 [GRCh38]
Chr11:85967552 [GRCh37]
Chr11:11q14.2		 uncertain significance
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 copy number loss not provided [RCV001832892] Chr11:85422071..118022671 [GRCh37]
Chr11:11q14.1-23.3		 uncertain significance
GRCh37/hg19 11q14.1-21(chr11:84924674-93574799) copy number loss not specified [RCV002052942] Chr11:84924674..93574799 [GRCh37]
Chr11:11q14.1-21		 likely pathogenic
GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445) copy number loss not specified [RCV002052940] Chr11:77855209..98002445 [GRCh37]
Chr11:11q14.1-22.1		 pathogenic
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221) copy number loss not specified [RCV002052941] Chr11:80318996..96116221 [GRCh37]
Chr11:11q14.1-21		 pathogenic
NM_003797.5(EED):c.17T>C (p.Val6Ala) single nucleotide variant Cohen-Gibson syndrome [RCV002038071] Chr11:86245246 [GRCh38]
Chr11:85956288 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.397C>T (p.Arg133Trp) single nucleotide variant Cohen-Gibson syndrome [RCV002033441] Chr11:86255258 [GRCh38]
Chr11:85966300 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.477C>T (p.Ser159=) single nucleotide variant Cohen-Gibson syndrome [RCV001951279] Chr11:86256437 [GRCh38]
Chr11:85967479 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.44T>G (p.Met15Arg) single nucleotide variant Cohen-Gibson syndrome [RCV001976246] Chr11:86245273 [GRCh38]
Chr11:85956315 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.268-3T>C single nucleotide variant Cohen-Gibson syndrome [RCV002010535]|Inborn genetic diseases [RCV002657645] Chr11:86252145 [GRCh38]
Chr11:85963187 [GRCh37]
Chr11:11q14.2		 likely benign|uncertain significance
NM_003797.5(EED):c.361-19G>A single nucleotide variant Cohen-Gibson syndrome [RCV002104791] Chr11:86255203 [GRCh38]
Chr11:85966245 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.177G>A (p.Thr59=) single nucleotide variant Cohen-Gibson syndrome [RCV002173546] Chr11:86250358 [GRCh38]
Chr11:85961400 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.1257C>T (p.Ser419=) single nucleotide variant Cohen-Gibson syndrome [RCV002179184] Chr11:86278456 [GRCh38]
Chr11:85989498 [GRCh37]
Chr11:11q14.2		 likely benign
NC_000011.9:g.(?_85339652)_(86666127_?)del deletion not provided [RCV003122860] Chr11:85339652..86666127 [GRCh37]
Chr11:11q14.1-14.2		 pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_003797.5(EED):c.1241G>A (p.Arg414Gln) single nucleotide variant Neurodevelopmental delay [RCV002274336] Chr11:86278440 [GRCh38]
Chr11:85989482 [GRCh37]
Chr11:11q14.2		 likely pathogenic
GRCh37/hg19 11q14.1-14.3(chr11:80562738-88663067)x1 copy number loss not provided [RCV002474501] Chr11:80562738..88663067 [GRCh37]
Chr11:11q14.1-14.3		 pathogenic
NM_003797.5(EED):c.1076G>T (p.Ser359Ile) single nucleotide variant not provided [RCV002300712] Chr11:86277089 [GRCh38]
Chr11:85988131 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.380A>G (p.His127Arg) single nucleotide variant not provided [RCV002300854] Chr11:86255241 [GRCh38]
Chr11:85966283 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.1101G>T (p.Arg367Ser) single nucleotide variant not provided [RCV002511344] Chr11:86277114 [GRCh38]
Chr11:85988156 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.36A>G (p.Gly12=) single nucleotide variant Cohen-Gibson syndrome [RCV002776035] Chr11:86245265 [GRCh38]
Chr11:85956307 [GRCh37]
Chr11:11q14.2		 likely benign
GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1 copy number loss not provided [RCV002475722] Chr11:81478509..104667040 [GRCh37]
Chr11:11q14.1-22.3		 pathogenic
NM_003797.5(EED):c.16G>A (p.Val6Met) single nucleotide variant Inborn genetic diseases [RCV002772865] Chr11:86245245 [GRCh38]
Chr11:85956287 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.267+20C>G single nucleotide variant Cohen-Gibson syndrome [RCV002730068] Chr11:86250468 [GRCh38]
Chr11:85961510 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.12G>T (p.Arg4Ser) single nucleotide variant Inborn genetic diseases [RCV002882569] Chr11:86245241 [GRCh38]
Chr11:85956283 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.11G>T (p.Arg4Met) single nucleotide variant Cohen-Gibson syndrome [RCV002975899]|Inborn genetic diseases [RCV003367927] Chr11:86245240 [GRCh38]
Chr11:85956282 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.1278A>G (p.Ile426Met) single nucleotide variant Inborn genetic diseases [RCV002707322] Chr11:86278477 [GRCh38]
Chr11:85989519 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.130A>G (p.Ile44Val) single nucleotide variant Inborn genetic diseases [RCV002745062] Chr11:86250311 [GRCh38]
Chr11:85961353 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.966+19A>C single nucleotide variant Cohen-Gibson syndrome [RCV002895172] Chr11:86268580 [GRCh38]
Chr11:85979622 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.6C>T (p.Ser2=) single nucleotide variant Cohen-Gibson syndrome [RCV003083428] Chr11:86245235 [GRCh38]
Chr11:85956277 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.14A>G (p.Glu5Gly) single nucleotide variant Inborn genetic diseases [RCV002915928] Chr11:86245243 [GRCh38]
Chr11:85956285 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.882C>A (p.Ile294=) single nucleotide variant Cohen-Gibson syndrome [RCV002595760] Chr11:86268477 [GRCh38]
Chr11:85979519 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.264C>T (p.Leu88=) single nucleotide variant Cohen-Gibson syndrome [RCV002931971] Chr11:86250445 [GRCh38]
Chr11:85961487 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.216A>G (p.Lys72=) single nucleotide variant Cohen-Gibson syndrome [RCV003056789] Chr11:86250397 [GRCh38]
Chr11:85961439 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.4T>C (p.Ser2Pro) single nucleotide variant Cohen-Gibson syndrome [RCV002746438] Chr11:86245233 [GRCh38]
Chr11:85956275 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.379C>T (p.His127Tyr) single nucleotide variant Inborn genetic diseases [RCV002702669] Chr11:86255240 [GRCh38]
Chr11:85966282 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.930T>C (p.Asp310=) single nucleotide variant Cohen-Gibson syndrome [RCV002601758]|not provided [RCV003395495] Chr11:86268525 [GRCh38]
Chr11:85979567 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.1174G>A (p.Glu392Lys) single nucleotide variant Inborn genetic diseases [RCV003300339] Chr11:86277966 [GRCh38]
Chr11:85989008 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.1108A>G (p.Met370Val) single nucleotide variant Inborn genetic diseases [RCV003265612] Chr11:86277121 [GRCh38]
Chr11:85988163 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.408A>T (p.Gln136His) single nucleotide variant not provided [RCV003330002] Chr11:86255269 [GRCh38]
Chr11:85966311 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.847A>C (p.Asn283His) single nucleotide variant not provided [RCV003395986] Chr11:86266203 [GRCh38]
Chr11:85977245 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.-13G>A single nucleotide variant not provided [RCV003395982] Chr11:86245217 [GRCh38]
Chr11:85956259 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.399G>C (p.Arg133=) single nucleotide variant not provided [RCV003395984] Chr11:86255260 [GRCh38]
Chr11:85966302 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.184G>A (p.Ala62Thr) single nucleotide variant EED-related disorder [RCV003420923] Chr11:86250365 [GRCh38]
Chr11:85961407 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.647G>A (p.Arg216Gln) single nucleotide variant EED-related disorder [RCV003404378] Chr11:86264184 [GRCh38]
Chr11:85975226 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.81G>A (p.Glu27=) single nucleotide variant not provided [RCV003395983] Chr11:86245310 [GRCh38]
Chr11:85956352 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.-85G>A single nucleotide variant not provided [RCV003395981] Chr11:86245145 [GRCh38]
Chr11:85956187 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.697G>A (p.Glu233Lys) single nucleotide variant not provided [RCV003395985] Chr11:86264234 [GRCh38]
Chr11:85975276 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.266del (p.Lys89fs) deletion Cohen-Gibson syndrome [RCV003592531] Chr11:86250446 [GRCh38]
Chr11:85961488 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.-124G>C single nucleotide variant not provided [RCV004585625] Chr11:86245106 [GRCh38]
Chr11:85956148 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.726+19G>A single nucleotide variant Cohen-Gibson syndrome [RCV003592974] Chr11:86264282 [GRCh38]
Chr11:85975324 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.114+18C>T single nucleotide variant Cohen-Gibson syndrome [RCV003757491] Chr11:86245361 [GRCh38]
Chr11:85956403 [GRCh37]
Chr11:11q14.2		 benign
NM_003797.5(EED):c.969T>A (p.Ser323=) single nucleotide variant Cohen-Gibson syndrome [RCV003757504]|EED-related disorder [RCV003956458] Chr11:86276982 [GRCh38]
Chr11:85988024 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.552+4G>A single nucleotide variant Cohen-Gibson syndrome [RCV003823023] Chr11:86256516 [GRCh38]
Chr11:85967558 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.268-7_268-3del deletion Cohen-Gibson syndrome [RCV003757294] Chr11:86252137..86252141 [GRCh38]
Chr11:85963179..85963183 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.114+4A>C single nucleotide variant Cohen-Gibson syndrome [RCV003757723]|EED-related disorder [RCV003981049] Chr11:86245347 [GRCh38]
Chr11:85956389 [GRCh37]
Chr11:11q14.2		 likely benign|uncertain significance
NM_003797.5(EED):c.923A>G (p.Tyr308Cys) single nucleotide variant Cohen-Gibson syndrome [RCV003757717] Chr11:86268518 [GRCh38]
Chr11:85979560 [GRCh37]
Chr11:11q14.2		 pathogenic
NM_003797.5(EED):c.726T>C (p.Ala242=) single nucleotide variant Cohen-Gibson syndrome [RCV003757772] Chr11:86264263 [GRCh38]
Chr11:85975305 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.1018A>G (p.Ile340Val) single nucleotide variant Cohen-Gibson syndrome [RCV003757850] Chr11:86277031 [GRCh38]
Chr11:85988073 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.557A>G (p.Tyr186Cys) single nucleotide variant EED-related disorder [RCV003949165] Chr11:86257519 [GRCh38]
Chr11:85968561 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.1054A>G (p.Ile352Val) single nucleotide variant Inborn genetic diseases [RCV004384594] Chr11:86277067 [GRCh38]
Chr11:85988109 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.522A>G (p.Ile174Met) single nucleotide variant Inborn genetic diseases [RCV004384595] Chr11:86256482 [GRCh38]
Chr11:85967524 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.979G>T (p.Ala327Ser) single nucleotide variant Inborn genetic diseases [RCV004384597] Chr11:86276992 [GRCh38]
Chr11:85988034 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.577A>G (p.Ile193Val) single nucleotide variant Inborn genetic diseases [RCV004384596] Chr11:86257539 [GRCh38]
Chr11:85968581 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.-125G>T single nucleotide variant not provided [RCV004575278] Chr11:86245105 [GRCh38]
Chr11:85956147 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.340G>T (p.Ala114Ser) single nucleotide variant not provided [RCV004588876] Chr11:86252220 [GRCh38]
Chr11:85963262 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.122C>T (p.Ala41Val) single nucleotide variant not specified [RCV004690617] Chr11:86250303 [GRCh38]
Chr11:85961345 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.724G>T (p.Ala242Ser) single nucleotide variant not provided [RCV004766177] Chr11:86264261 [GRCh38]
Chr11:85975303 [GRCh37]
Chr11:11q14.2		 uncertain significance
NM_003797.5(EED):c.861-10C>T single nucleotide variant EED-related disorder [RCV004755161] Chr11:86268446 [GRCh38]
Chr11:85979488 [GRCh37]
Chr11:11q14.2		 likely benign
NM_003797.5(EED):c.1126A>T (p.Met376Leu) single nucleotide variant not provided [RCV004762971]   uncertain significance
NM_003797.5(EED):c.689G>C (p.Gly230Ala) single nucleotide variant Cohen-Gibson syndrome [RCV004759584]   uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR101-2hsa-miR-101-3pMirtarbaseexternal_infoWestern blotFunctional MTI19008416
MIR138-2hsa-miR-138-5pMirtarbaseexternal_infoWestern blot;qRT-PCRNon-Functional MTI21770894
MIR138-2hsa-miR-138-5pTarbaseexternal_infoqPCRNEGATIVE
MIR138-2hsa-miR-138-5pTarbaseexternal_infoWesternblitNEGATIVE
MIR138-1hsa-miR-138-5pMirtarbaseexternal_infoWestern blot;qRT-PCRNon-Functional MTI21770894
MIR138-1hsa-miR-138-5pTarbaseexternal_infoqPCRNEGATIVE
MIR138-1hsa-miR-138-5pTarbaseexternal_infoWesternblitNEGATIVE
MIR101-1hsa-miR-101-3pMirtarbaseexternal_infoWestern blotFunctional MTI19008416

Predicted Target Of
Summary Value
Count of predictions:1597
Count of miRNA genes:427
Interacting mature miRNAs:492
Transcripts:ENST00000263360, ENST00000327320, ENST00000351625, ENST00000524673, ENST00000525244, ENST00000527888, ENST00000528180, ENST00000528250, ENST00000533228, ENST00000534564, ENST00000534595
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1357380BW64_HBody weight QTL 64 (human)2.2Body weightpercent fat after exercise training116097893786978937Human
597354619GWAS1450693_Hbody height QTL GWAS1450693 (human)1e-82body height (VT:0001253)body height (CMO:0000106)118624543686245437Human
597344553GWAS1440627_Hcannabis dependence QTL GWAS1440627 (human)5e-09cannabis dependence118625486786254868Human
597345359GWAS1441433_Hsmoking initiation QTL GWAS1441433 (human)6e-11smoking initiation118626991686269917Human
597139729GWAS1235803_Hsmoking initiation QTL GWAS1235803 (human)2e-18smoking initiation118626991686269917Human
597225504GWAS1321578_Hsmoking status measurement QTL GWAS1321578 (human)6e-15smoking status measurement118626991686269917Human
597534806GWAS1630880_Hbody height QTL GWAS1630880 (human)2e-10body height (VT:0001253)body height (CMO:0000106)118624510686245107Human
597145708GWAS1241782_Hsmoking initiation QTL GWAS1241782 (human)8e-20smoking initiation118625486786254868Human
597145707GWAS1241781_Hsmoking initiation QTL GWAS1241781 (human)8e-22smoking initiation118624842986248430Human
597045577GWAS1141651_Hbody height QTL GWAS1141651 (human)1e-10body height (VT:0001253)body height (CMO:0000106)118624543686245437Human
597231478GWAS1327552_Hsmoking status measurement QTL GWAS1327552 (human)3e-10smoking status measurement118626991686269917Human
597144824GWAS1240898_Hsmoking initiation QTL GWAS1240898 (human)3e-22smoking initiation118626991686269917Human

Markers in Region
EED_2183  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371185,988,994 - 85,989,811UniSTSGRCh37
Build 361185,666,642 - 85,667,459RGDNCBI36
Celera1183,299,652 - 83,300,469RGD
HuRef1182,277,356 - 82,278,173UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2436 2788 2250 4971 1726 2351 5 623 1951 465 2268 7298 6466 52 3733 1 851 1743 1617 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_247215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA811323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF070418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF078933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF080227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF099032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI378297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL546955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW263732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB086430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U90651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000263360   ⟹   ENSP00000263360
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,244,753 - 86,278,810 (+)Ensembl
Ensembl Acc Id: ENST00000327320   ⟹   ENSP00000315587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,245,140 - 86,278,735 (+)Ensembl
Ensembl Acc Id: ENST00000351625   ⟹   ENSP00000338186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,245,223 - 86,278,813 (+)Ensembl
Ensembl Acc Id: ENST00000524673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,267,895 - 86,278,578 (+)Ensembl
Ensembl Acc Id: ENST00000525244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,245,268 - 86,277,535 (+)Ensembl
Ensembl Acc Id: ENST00000527888   ⟹   ENSP00000437318
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,276,132 - 86,278,739 (+)Ensembl
Ensembl Acc Id: ENST00000528180   ⟹   ENSP00000431778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,244,753 - 86,278,707 (+)Ensembl
Ensembl Acc Id: ENST00000528250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,277,098 - 86,278,739 (+)Ensembl
Ensembl Acc Id: ENST00000533228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,263,945 - 86,268,530 (+)Ensembl
Ensembl Acc Id: ENST00000534564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,263,945 - 86,278,554 (+)Ensembl
Ensembl Acc Id: ENST00000534595   ⟹   ENSP00000436084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,245,234 - 86,278,361 (+)Ensembl
Ensembl Acc Id: ENST00000672825   ⟹   ENSP00000500834
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,244,764 - 86,278,743 (+)Ensembl
Ensembl Acc Id: ENST00000673233   ⟹   ENSP00000500914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,245,050 - 86,279,807 (+)Ensembl
Ensembl Acc Id: ENST00000707108   ⟹   ENSP00000516737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,201,212 - 86,278,810 (+)Ensembl
RefSeq Acc Id: NM_001308007   ⟹   NP_001294936
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,244,753 - 86,278,810 (+)NCBI
CHM1_11185,841,200 - 85,875,657 (+)NCBI
T2T-CHM13v2.01186,186,227 - 86,221,207 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330334   ⟹   NP_001317263
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,244,753 - 86,278,810 (+)NCBI
T2T-CHM13v2.01186,186,227 - 86,221,207 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003797   ⟹   NP_003788
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,244,753 - 86,278,810 (+)NCBI
GRCh371185,955,586 - 85,989,785 (+)NCBI
Build 361185,633,463 - 85,667,429 (+)NCBI Archive
HuRef1182,243,000 - 82,278,147 (+)NCBI
CHM1_11185,841,200 - 85,875,657 (+)NCBI
T2T-CHM13v2.01186,186,227 - 86,221,207 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545330   ⟹   XP_011543632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,244,753 - 86,287,615 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545331   ⟹   XP_011543633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,244,753 - 86,277,991 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018512   ⟹   XP_016874001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,244,753 - 86,287,615 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018513   ⟹   XP_016874002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,244,753 - 86,287,615 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047427801   ⟹   XP_047283757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,244,753 - 86,277,991 (+)NCBI
RefSeq Acc Id: XM_047427802   ⟹   XP_047283758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,244,753 - 86,277,138 (+)NCBI
RefSeq Acc Id: XM_047427803   ⟹   XP_047283759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,249,449 - 86,278,810 (+)NCBI
RefSeq Acc Id: XM_054370357   ⟹   XP_054226332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01186,186,227 - 86,228,035 (+)NCBI
RefSeq Acc Id: XM_054370358   ⟹   XP_054226333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01186,186,227 - 86,220,388 (+)NCBI
RefSeq Acc Id: XM_054370359   ⟹   XP_054226334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01186,186,227 - 86,228,460 (+)NCBI
RefSeq Acc Id: XM_054370360   ⟹   XP_054226335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01186,186,227 - 86,220,388 (+)NCBI
RefSeq Acc Id: XM_054370361   ⟹   XP_054226336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01186,186,227 - 86,228,187 (+)NCBI
RefSeq Acc Id: XM_054370362   ⟹   XP_054226337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01186,186,227 - 86,219,535 (+)NCBI
RefSeq Acc Id: XM_054370363   ⟹   XP_054226338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01186,190,923 - 86,221,207 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001294936 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317263 (Get FASTA)   NCBI Sequence Viewer  
  NP_003788 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543632 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543633 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874001 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874002 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283757 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283758 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283759 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226332 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226333 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226334 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226335 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226336 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226337 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226338 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC23685 (Get FASTA)   NCBI Sequence Viewer  
  AAC68675 (Get FASTA)   NCBI Sequence Viewer  
  AAC95144 (Get FASTA)   NCBI Sequence Viewer  
  AAD08714 (Get FASTA)   NCBI Sequence Viewer  
  AAD08815 (Get FASTA)   NCBI Sequence Viewer  
  AAH47672 (Get FASTA)   NCBI Sequence Viewer  
  AAH68995 (Get FASTA)   NCBI Sequence Viewer  
  BAF84809 (Get FASTA)   NCBI Sequence Viewer  
  BAG57461 (Get FASTA)   NCBI Sequence Viewer  
  BAG62829 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43235 (Get FASTA)   NCBI Sequence Viewer  
  EAW75129 (Get FASTA)   NCBI Sequence Viewer  
  EAW75130 (Get FASTA)   NCBI Sequence Viewer  
  EAW75131 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000263360
  ENSP00000263360.6
  ENSP00000315587.4
  ENSP00000338186
  ENSP00000338186.5
  ENSP00000431778
  ENSP00000431778.1
  ENSP00000436084.1
  ENSP00000437318.1
  ENSP00000500834.1
  ENSP00000500914.2
  ENSP00000516737.1
GenBank Protein O75530 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_003788   ⟸   NM_003797
- Peptide Label: isoform a
- UniProtKB: O75530 (UniProtKB/Swiss-Prot),   Q86VV2 (UniProtKB/Swiss-Prot),   Q7LDG8 (UniProtKB/Swiss-Prot),   Q7LDA5 (UniProtKB/Swiss-Prot),   Q6NTH2 (UniProtKB/Swiss-Prot),   O00149 (UniProtKB/Swiss-Prot),   A8K7V5 (UniProtKB/Swiss-Prot),   Q9UNY7 (UniProtKB/Swiss-Prot),   A0A9L9PY60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543632   ⟸   XM_011545330
- Peptide Label: isoform X1
- UniProtKB: B4DVW7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543633   ⟸   XM_011545331
- Peptide Label: isoform X2
- UniProtKB: B4DVW7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001294936   ⟸   NM_001308007
- Peptide Label: isoform c
- UniProtKB: A0A9L9PY60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016874002   ⟸   XM_017018513
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016874001   ⟸   XM_017018512
- Peptide Label: isoform X3
- UniProtKB: B4DVW7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317263   ⟸   NM_001330334
- Peptide Label: isoform d
- UniProtKB: E9PJK2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000500914   ⟸   ENST00000673233
Ensembl Acc Id: ENSP00000436084   ⟸   ENST00000534595
Ensembl Acc Id: ENSP00000338186   ⟸   ENST00000351625
Ensembl Acc Id: ENSP00000315587   ⟸   ENST00000327320
Ensembl Acc Id: ENSP00000263360   ⟸   ENST00000263360
Ensembl Acc Id: ENSP00000437318   ⟸   ENST00000527888
Ensembl Acc Id: ENSP00000431778   ⟸   ENST00000528180
Ensembl Acc Id: ENSP00000500834   ⟸   ENST00000672825
RefSeq Acc Id: XP_047283757   ⟸   XM_047427801
- Peptide Label: isoform X4
- UniProtKB: B4DVW7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047283758   ⟸   XM_047427802
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047283759   ⟸   XM_047427803
- Peptide Label: isoform X7
Ensembl Acc Id: ENSP00000516737   ⟸   ENST00000707108
RefSeq Acc Id: XP_054226334   ⟸   XM_054370359
- Peptide Label: isoform X3
- UniProtKB: B4DVW7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226336   ⟸   XM_054370361
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054226332   ⟸   XM_054370357
- Peptide Label: isoform X1
- UniProtKB: B4DVW7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226333   ⟸   XM_054370358
- Peptide Label: isoform X2
- UniProtKB: B4DVW7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226335   ⟸   XM_054370360
- Peptide Label: isoform X4
- UniProtKB: B4DVW7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226337   ⟸   XM_054370362
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054226338   ⟸   XM_054370363
- Peptide Label: isoform X7

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75530-F1-model_v2 AlphaFold O75530 1-441 view protein structure

Promoters
RGD ID:6788721
Promoter ID:HG_KWN:13878
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:NM_003797,   NM_152991,   UC001PBR.1,   UC001PBS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361185,633,236 - 85,633,987 (+)MPROMDB
RGD ID:7221735
Promoter ID:EPDNEW_H16613
Type:initiation region
Name:EED_3
Description:embryonic ectoderm development
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16614  EPDNEW_H16615  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,244,551 - 86,244,611EPDNEW
RGD ID:7221737
Promoter ID:EPDNEW_H16614
Type:initiation region
Name:EED_2
Description:embryonic ectoderm development
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16613  EPDNEW_H16615  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,244,789 - 86,244,849EPDNEW
RGD ID:7221739
Promoter ID:EPDNEW_H16615
Type:initiation region
Name:EED_1
Description:embryonic ectoderm development
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16613  EPDNEW_H16614  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,245,236 - 86,245,296EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3188 AgrOrtholog
COSMIC EED COSMIC
Ensembl Genes ENSG00000074266 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000263360 ENTREZGENE
  ENST00000263360.11 UniProtKB/Swiss-Prot
  ENST00000327320.8 UniProtKB/Swiss-Prot
  ENST00000351625 ENTREZGENE
  ENST00000351625.10 UniProtKB/Swiss-Prot
  ENST00000527888.1 UniProtKB/TrEMBL
  ENST00000528180 ENTREZGENE
  ENST00000528180.5 UniProtKB/TrEMBL
  ENST00000534595.1 UniProtKB/TrEMBL
  ENST00000672825.1 UniProtKB/Swiss-Prot
  ENST00000673233.2 UniProtKB/TrEMBL
  ENST00000707108.1 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000074266 GTEx
HGNC ID HGNC:3188 ENTREZGENE
Human Proteome Map EED Human Proteome Map
InterPro PcG_WD-repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8726 UniProtKB/Swiss-Prot
NCBI Gene 8726 ENTREZGENE
OMIM 605984 OMIM
PANTHER POLYCOMB PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27624 PharmGKB
PROSITE WD_REPEATS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A5F9ZI63_HUMAN UniProtKB/TrEMBL
  A0A9L9PY60 ENTREZGENE, UniProtKB/TrEMBL
  A8K7V5 ENTREZGENE
  B4DVW7 ENTREZGENE, UniProtKB/TrEMBL
  E9PJK2 ENTREZGENE, UniProtKB/TrEMBL
  E9PMU3_HUMAN UniProtKB/TrEMBL
  EED_HUMAN UniProtKB/Swiss-Prot
  H0YEL4_HUMAN UniProtKB/TrEMBL
  L8E7I9_HUMAN UniProtKB/TrEMBL
  O00149 ENTREZGENE
  O75530 ENTREZGENE
  Q6NTH2 ENTREZGENE
  Q7LDA5 ENTREZGENE
  Q7LDG8 ENTREZGENE
  Q86VV2 ENTREZGENE
  Q9UNY7 ENTREZGENE
UniProt Secondary A8K7V5 UniProtKB/Swiss-Prot
  O00149 UniProtKB/Swiss-Prot
  Q6NTH2 UniProtKB/Swiss-Prot
  Q7LDA5 UniProtKB/Swiss-Prot
  Q7LDG8 UniProtKB/Swiss-Prot
  Q86VV2 UniProtKB/Swiss-Prot
  Q9UNY7 UniProtKB/Swiss-Prot