EML3 (EMAP like 3) - Rat Genome Database

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Gene: EML3 (EMAP like 3) Homo sapiens
Analyze
Symbol: EML3
Name: EMAP like 3
RGD ID: 1606414
HGNC Page HGNC:26666
Description: Predicted to enable microtubule binding activity. Involved in mitotic metaphase chromosome alignment and regulation of mitotic spindle assembly. Located in several cellular components, including midbody; mitotic spindle microtubule; and nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: echinoderm microtubule associated protein like 3; echinoderm microtubule-associated protein-like 3; ELP95; EMAP-3; EMAP3; EMAP95; FLJ35827; MGC111422
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381162,602,218 - 62,612,775 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1162,602,218 - 62,612,775 (-)EnsemblGRCh38hg38GRCh38
GRCh371162,369,690 - 62,380,247 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361162,126,267 - 62,136,813 (-)NCBINCBI36Build 36hg18NCBI36
Celera1159,699,256 - 59,709,802 (-)NCBICelera
Cytogenetic Map11q12.3NCBI
HuRef1158,698,607 - 58,709,155 (-)NCBIHuRef
CHM1_11162,252,737 - 62,263,283 (-)NCBICHM1_1
T2T-CHM13v2.01162,591,666 - 62,602,223 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:14744259   PMID:15146197   PMID:15225882   PMID:15324660   PMID:17353931   PMID:18445686   PMID:20360068   PMID:21873635   PMID:22190034   PMID:24067654  
PMID:25740311   PMID:26186194   PMID:26496610   PMID:28514442   PMID:30723163   PMID:31932471   PMID:31980649   PMID:32296183   PMID:32707033   PMID:32786267   PMID:33961781   PMID:35271311  
PMID:35748872   PMID:36215168   PMID:36736316   PMID:38496616  


Genomics

Comparative Map Data
EML3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381162,602,218 - 62,612,775 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1162,602,218 - 62,612,775 (-)EnsemblGRCh38hg38GRCh38
GRCh371162,369,690 - 62,380,247 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361162,126,267 - 62,136,813 (-)NCBINCBI36Build 36hg18NCBI36
Celera1159,699,256 - 59,709,802 (-)NCBICelera
Cytogenetic Map11q12.3NCBI
HuRef1158,698,607 - 58,709,155 (-)NCBIHuRef
CHM1_11162,252,737 - 62,263,283 (-)NCBICHM1_1
T2T-CHM13v2.01162,591,666 - 62,602,223 (-)NCBIT2T-CHM13v2.0
Eml3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39198,904,584 - 8,918,946 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl198,906,916 - 8,918,946 (+)EnsemblGRCm39 Ensembl
GRCm38198,929,663 - 8,941,582 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl198,929,552 - 8,941,582 (+)EnsemblGRCm38mm10GRCm38
MGSCv37199,004,184 - 9,016,072 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36198,996,739 - 9,008,627 (+)NCBIMGSCv36mm8
Celera198,690,471 - 8,702,356 (+)NCBICelera
Cytogenetic Map19ANCBI
cM Map196.04NCBI
Eml3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81215,255,459 - 215,266,895 (+)NCBIGRCr8
mRatBN7.21205,826,354 - 205,837,790 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1205,817,378 - 205,837,807 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1214,234,786 - 214,246,239 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01221,269,720 - 221,281,156 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01213,962,577 - 213,974,013 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01225,128,997 - 225,140,472 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1225,129,097 - 225,140,428 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01232,066,640 - 232,078,092 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1203,339,113 - 203,350,588 (+)NCBICelera
Cytogenetic Map1q43NCBI
Eml3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955599580,341 - 587,613 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955599580,203 - 587,268 (+)NCBIChiLan1.0ChiLan1.0
EML3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2963,829,452 - 63,840,027 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11164,872,161 - 64,882,710 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01157,959,763 - 57,970,312 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11161,314,360 - 61,324,592 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1161,305,373 - 61,324,592 (-)Ensemblpanpan1.1panPan2
EML3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11854,027,836 - 54,037,398 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1854,028,188 - 54,037,163 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1852,633,005 - 52,643,024 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01855,080,460 - 55,090,458 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1855,080,413 - 55,090,006 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11854,176,575 - 54,186,553 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01853,751,437 - 53,761,454 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01854,547,090 - 54,556,994 (+)NCBIUU_Cfam_GSD_1.0
Eml3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494710,531,013 - 10,540,717 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936581644,841 - 654,538 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936581644,841 - 654,539 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EML3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl29,127,698 - 9,137,653 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.129,127,680 - 9,137,651 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.228,472,985 - 8,483,369 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EML3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1111,292,181 - 11,302,723 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl111,292,202 - 11,302,472 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038108,627,173 - 108,637,973 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Eml3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249261,133,301 - 1,140,149 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249261,133,177 - 1,140,440 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EML3
40 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3 copy number gain See cases [RCV000053620] Chr11:62433886..63096003 [GRCh38]
Chr11:62201358..62863475 [GRCh37]
Chr11:61957934..62620051 [NCBI36]
Chr11:11q12.3		 pathogenic
GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3 copy number gain See cases [RCV000053621] Chr11:62452571..62862781 [GRCh38]
Chr11:62220043..62630253 [GRCh37]
Chr11:61976619..62386829 [NCBI36]
Chr11:11q12.3		 pathogenic
NM_153265.2(EML3):c.516G>A (p.Arg172=) single nucleotide variant Malignant melanoma [RCV000069565] Chr11:62610929 [GRCh38]
Chr11:62378401 [GRCh37]
Chr11:62134977 [NCBI36]
Chr11:11q12.3		 not provided
NM_153265.2(EML3):c.515G>A (p.Arg172Lys) single nucleotide variant Malignant melanoma [RCV000069566] Chr11:62610930 [GRCh38]
Chr11:62378402 [GRCh37]
Chr11:62134978 [NCBI36]
Chr11:11q12.3		 not provided
NM_000327.3(ROM1):c.960A>C (p.Lys320Asn) single nucleotide variant Malignant melanoma [RCV000062314] Chr11:62614743 [GRCh38]
Chr11:62382215 [GRCh37]
Chr11:62138791 [NCBI36]
Chr11:11q12.3		 not provided
NM_004739.3(MTA2):c.299C>T (p.Thr100Ile) single nucleotide variant Malignant melanoma [RCV000062313] Chr11:62598531 [GRCh38]
Chr11:62366003 [GRCh37]
Chr11:62122579 [NCBI36]
Chr11:11q12.3		 not provided
GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3 copy number gain See cases [RCV000134807] Chr11:62562836..62840570 [GRCh38]
Chr11:62330308..62608042 [GRCh37]
Chr11:62086884..62364618 [NCBI36]
Chr11:11q12.3		 uncertain significance
GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3 copy number gain See cases [RCV000138411] Chr11:62249520..62946093 [GRCh38]
Chr11:62016992..62713565 [GRCh37]
Chr11:61773568..62470141 [NCBI36]
Chr11:11q12.3		 pathogenic
GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1 copy number loss See cases [RCV000448355] Chr11:61840997..62987330 [GRCh37]
Chr11:11q12.3		 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
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 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
NM_153265.3(EML3):c.1054G>A (p.Glu352Lys) single nucleotide variant Inborn genetic diseases [RCV003267245] Chr11:62608598 [GRCh38]
Chr11:62376070 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.1619A>G (p.Gln540Arg) single nucleotide variant Inborn genetic diseases [RCV003247594] Chr11:62606100 [GRCh38]
Chr11:62373572 [GRCh37]
Chr11:11q12.3		 uncertain significance
GRCh37/hg19 11q12.3(chr11:62314663-62788240)x3 copy number gain not provided [RCV000849841] Chr11:62314663..62788240 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.1477A>G (p.Lys493Glu) single nucleotide variant Inborn genetic diseases [RCV003291994] Chr11:62606985 [GRCh38]
Chr11:62374457 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.724G>C (p.Gly242Arg) single nucleotide variant Inborn genetic diseases [RCV003292519] Chr11:62609388 [GRCh38]
Chr11:62376860 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.-283G>A single nucleotide variant Retinitis pigmentosa [RCV001106759] Chr11:62612740 [GRCh38]
Chr11:62380212 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.-298C>T single nucleotide variant Retinitis pigmentosa [RCV001106760] Chr11:62612755 [GRCh38]
Chr11:62380227 [GRCh37]
Chr11:11q12.3		 uncertain significance
GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3 copy number gain not provided [RCV001006412] Chr11:60385382..62456278 [GRCh37]
Chr11:11q12.2-12.3		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NC_000011.9:g.(?_59596957)_(68707199_?)dup duplication Familial temporal lobe epilepsy 8 [RCV001372442] Chr11:59596957..68707199 [GRCh37]
Chr11:11q12.1-13.3		 uncertain significance
NC_000011.9:g.(?_58916346)_(64972349_?)dup duplication Leukocyte adhesion deficiency 3 [RCV003113394]|not provided [RCV003113393] Chr11:58916346..64972349 [GRCh37]
Chr11:11q12.1-13.1		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_153265.3(EML3):c.872G>T (p.Gly291Val) single nucleotide variant Inborn genetic diseases [RCV002841631] Chr11:62609019 [GRCh38]
Chr11:62376491 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.1495G>A (p.Gly499Ser) single nucleotide variant Inborn genetic diseases [RCV002841105] Chr11:62606967 [GRCh38]
Chr11:62374439 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.853C>T (p.Arg285Trp) single nucleotide variant Inborn genetic diseases [RCV002818722] Chr11:62609038 [GRCh38]
Chr11:62376510 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.1406C>T (p.Pro469Leu) single nucleotide variant Inborn genetic diseases [RCV002774307] Chr11:62607056 [GRCh38]
Chr11:62374528 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.166T>C (p.Ser56Pro) single nucleotide variant Inborn genetic diseases [RCV002858920] Chr11:62611453 [GRCh38]
Chr11:62378925 [GRCh37]
Chr11:11q12.3		 likely benign
NM_153265.3(EML3):c.1079G>A (p.Arg360Gln) single nucleotide variant Inborn genetic diseases [RCV002687081] Chr11:62608573 [GRCh38]
Chr11:62376045 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.2501T>G (p.Met834Arg) single nucleotide variant Inborn genetic diseases [RCV002951811] Chr11:62602665 [GRCh38]
Chr11:62370137 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.523A>G (p.Ile175Val) single nucleotide variant Inborn genetic diseases [RCV002997891] Chr11:62610922 [GRCh38]
Chr11:62378394 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.2079G>T (p.Leu693Phe) single nucleotide variant Inborn genetic diseases [RCV002951275] Chr11:62604034 [GRCh38]
Chr11:62371506 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.406C>T (p.Pro136Ser) single nucleotide variant Inborn genetic diseases [RCV002799340] Chr11:62611133 [GRCh38]
Chr11:62378605 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.7G>T (p.Gly3Trp) single nucleotide variant Inborn genetic diseases [RCV002916603] Chr11:62612451 [GRCh38]
Chr11:62379923 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.1679T>C (p.Val560Ala) single nucleotide variant Inborn genetic diseases [RCV002644865] Chr11:62605958 [GRCh38]
Chr11:62373430 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.175C>G (p.Pro59Ala) single nucleotide variant Inborn genetic diseases [RCV002763388] Chr11:62611444 [GRCh38]
Chr11:62378916 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.7G>A (p.Gly3Arg) single nucleotide variant Inborn genetic diseases [RCV002702833] Chr11:62612451 [GRCh38]
Chr11:62379923 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.329A>G (p.Gln110Arg) single nucleotide variant Inborn genetic diseases [RCV002748642] Chr11:62611210 [GRCh38]
Chr11:62378682 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.1247G>A (p.Arg416His) single nucleotide variant Inborn genetic diseases [RCV002747533] Chr11:62607781 [GRCh38]
Chr11:62375253 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.2645C>T (p.Pro882Leu) single nucleotide variant Inborn genetic diseases [RCV002747451] Chr11:62602521 [GRCh38]
Chr11:62369993 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.1097C>T (p.Ala366Val) single nucleotide variant Inborn genetic diseases [RCV003190937] Chr11:62608555 [GRCh38]
Chr11:62376027 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.2547C>G (p.His849Gln) single nucleotide variant Inborn genetic diseases [RCV003206586] Chr11:62602619 [GRCh38]
Chr11:62370091 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.1855C>T (p.Arg619Trp) single nucleotide variant Inborn genetic diseases [RCV003186073] Chr11:62605701 [GRCh38]
Chr11:62373173 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.719C>T (p.Pro240Leu) single nucleotide variant Inborn genetic diseases [RCV003183147] Chr11:62609393 [GRCh38]
Chr11:62376865 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.2263G>A (p.Val755Met) single nucleotide variant Inborn genetic diseases [RCV003309095] Chr11:62603242 [GRCh38]
Chr11:62370714 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.1687A>G (p.Ile563Val) single nucleotide variant Inborn genetic diseases [RCV003305651] Chr11:62605950 [GRCh38]
Chr11:62373422 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.302G>A (p.Gly101Asp) single nucleotide variant Inborn genetic diseases [RCV003285090] Chr11:62611237 [GRCh38]
Chr11:62378709 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.316C>T (p.Pro106Ser) single nucleotide variant Inborn genetic diseases [RCV003383253] Chr11:62611223 [GRCh38]
Chr11:62378695 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.2411A>G (p.His804Arg) single nucleotide variant Inborn genetic diseases [RCV003384825] Chr11:62602835 [GRCh38]
Chr11:62370307 [GRCh37]
Chr11:11q12.3		 uncertain significance
NM_153265.3(EML3):c.1903A>C (p.Ile635Leu) single nucleotide variant Inborn genetic diseases [RCV003351100] Chr11:62605653 [GRCh38]
Chr11:62373125 [GRCh37]
Chr11:11q12.3		 uncertain significance
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 copy number gain not provided [RCV003484842] Chr11:59923608..76272324 [GRCh37]
Chr11:11q12.2-13.5		 pathogenic
GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3 copy number gain not specified [RCV003986918] Chr11:50398499..63924462 [GRCh37]
Chr11:11p11.12-q13.1		 likely pathogenic
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3 copy number gain not specified [RCV003986944] Chr11:56895955..69295402 [GRCh37]
Chr11:11q12.1-13.3		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7097
Count of miRNA genes:1152
Interacting mature miRNAs:1505
Transcripts:ENST00000278845, ENST00000394773, ENST00000394776, ENST00000419857, ENST00000438258, ENST00000439994, ENST00000460939, ENST00000462626, ENST00000466671, ENST00000466886, ENST00000483199, ENST00000494176, ENST00000494448, ENST00000524518, ENST00000526116, ENST00000529309, ENST00000531557, ENST00000533165
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.

Markers in Region
RH46908  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,369,730 - 62,369,858UniSTSGRCh37
Build 361162,126,306 - 62,126,434RGDNCBI36
Celera1159,699,295 - 59,699,423RGD
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q12-q13.1UniSTS
HuRef1158,698,646 - 58,698,774UniSTS
GeneMap99-GB4 RH Map11228.98UniSTS
MARC_4123-4124:996679395:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,372,625 - 62,373,171UniSTSGRCh37
Build 361162,129,201 - 62,129,747RGDNCBI36
Celera1159,702,190 - 59,702,736RGD
HuRef1158,701,541 - 58,702,087UniSTS
MARC_4683-4684:996679606:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,370,254 - 62,370,687UniSTSGRCh37
Build 361162,126,830 - 62,127,263RGDNCBI36
Celera1159,699,819 - 59,700,252RGD
HuRef1158,699,170 - 58,699,603UniSTS
D1S3695  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p34-p12UniSTS
Cytogenetic Map6q27UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2419 2639 1658 563 1893 405 3739 1311 2978 345 1435 1594 171 1204 2180 3
Low 20 351 68 61 55 60 617 884 751 74 24 18 4 1 608 3 2
Below cutoff 2 1 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001300793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001300794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001411016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK093146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN386216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN386217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000278845   ⟹   ENSP00000278845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,602,219 - 62,612,524 (-)Ensembl
RefSeq Acc Id: ENST00000394773   ⟹   ENSP00000378254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,602,218 - 62,612,775 (-)Ensembl
RefSeq Acc Id: ENST00000394776   ⟹   ENSP00000378256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,602,219 - 62,611,596 (-)Ensembl
RefSeq Acc Id: ENST00000419857   ⟹   ENSP00000411572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,611,112 - 62,612,746 (-)Ensembl
RefSeq Acc Id: ENST00000438258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,605,910 - 62,607,993 (-)Ensembl
RefSeq Acc Id: ENST00000439994   ⟹   ENSP00000409611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,602,218 - 62,603,738 (-)Ensembl
RefSeq Acc Id: ENST00000460939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,602,220 - 62,606,212 (-)Ensembl
RefSeq Acc Id: ENST00000462626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,605,837 - 62,607,042 (-)Ensembl
RefSeq Acc Id: ENST00000466671   ⟹   ENSP00000435832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,610,977 - 62,612,280 (-)Ensembl
RefSeq Acc Id: ENST00000466886   ⟹   ENSP00000433706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,610,976 - 62,612,376 (-)Ensembl
RefSeq Acc Id: ENST00000483199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,604,073 - 62,607,392 (-)Ensembl
RefSeq Acc Id: ENST00000494176   ⟹   ENSP00000435064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,602,220 - 62,611,680 (-)Ensembl
RefSeq Acc Id: ENST00000494448   ⟹   ENSP00000431752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,602,226 - 62,612,381 (-)Ensembl
RefSeq Acc Id: ENST00000524518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,604,708 - 62,605,682 (-)Ensembl
RefSeq Acc Id: ENST00000526116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,605,596 - 62,607,082 (-)Ensembl
RefSeq Acc Id: ENST00000529309   ⟹   ENSP00000434513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,602,220 - 62,612,530 (-)Ensembl
RefSeq Acc Id: ENST00000531557   ⟹   ENSP00000433417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,602,220 - 62,611,007 (-)Ensembl
RefSeq Acc Id: ENST00000533165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,603,116 - 62,605,229 (-)Ensembl
RefSeq Acc Id: NM_001300793   ⟹   NP_001287722
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,602,218 - 62,612,775 (-)NCBI
CHM1_11162,252,737 - 62,263,283 (-)NCBI
T2T-CHM13v2.01162,591,666 - 62,602,223 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001300794   ⟹   NP_001287723
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,602,218 - 62,612,775 (-)NCBI
CHM1_11162,252,737 - 62,263,283 (-)NCBI
T2T-CHM13v2.01162,591,666 - 62,602,223 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001411016   ⟹   NP_001397945
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,602,218 - 62,612,775 (-)NCBI
T2T-CHM13v2.01162,591,666 - 62,602,223 (-)NCBI
RefSeq Acc Id: NM_153265   ⟹   NP_694997
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,602,218 - 62,612,775 (-)NCBI
GRCh371162,369,690 - 62,380,492 (-)NCBI
Build 361162,126,267 - 62,136,813 (-)NCBI Archive
Celera1159,699,256 - 59,709,802 (-)RGD
HuRef1158,698,607 - 58,709,155 (-)RGD
CHM1_11162,252,737 - 62,263,283 (-)NCBI
T2T-CHM13v2.01162,591,666 - 62,602,223 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006718489   ⟹   XP_006718552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,602,218 - 62,611,851 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006718490   ⟹   XP_006718553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,602,218 - 62,611,851 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006718491   ⟹   XP_006718554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,602,218 - 62,611,851 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544896   ⟹   XP_011543198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,602,218 - 62,611,851 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544897   ⟹   XP_011543199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,602,218 - 62,611,851 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017481   ⟹   XP_016872970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,602,218 - 62,611,336 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017482   ⟹   XP_016872971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,602,218 - 62,611,336 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047426715   ⟹   XP_047282671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,602,218 - 62,611,777 (-)NCBI
RefSeq Acc Id: XM_047426716   ⟹   XP_047282672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,602,218 - 62,612,775 (-)NCBI
RefSeq Acc Id: XM_047426717   ⟹   XP_047282673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,602,218 - 62,612,775 (-)NCBI
RefSeq Acc Id: XM_047426718   ⟹   XP_047282674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,602,218 - 62,610,964 (-)NCBI
RefSeq Acc Id: XM_054368321   ⟹   XP_054224296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01162,591,666 - 62,601,831 (-)NCBI
RefSeq Acc Id: XM_054368322   ⟹   XP_054224297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01162,591,666 - 62,601,831 (-)NCBI
RefSeq Acc Id: XM_054368323   ⟹   XP_054224298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01162,591,666 - 62,601,860 (-)NCBI
RefSeq Acc Id: XM_054368324   ⟹   XP_054224299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01162,591,666 - 62,601,828 (-)NCBI
RefSeq Acc Id: XM_054368325   ⟹   XP_054224300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01162,591,666 - 62,601,833 (-)NCBI
RefSeq Acc Id: XM_054368326   ⟹   XP_054224301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01162,591,666 - 62,601,560 (-)NCBI
RefSeq Acc Id: XM_054368327   ⟹   XP_054224302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01162,591,666 - 62,602,223 (-)NCBI
RefSeq Acc Id: XM_054368328   ⟹   XP_054224303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01162,591,666 - 62,602,223 (-)NCBI
RefSeq Acc Id: XM_054368329   ⟹   XP_054224304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01162,591,666 - 62,600,784 (-)NCBI
RefSeq Acc Id: XM_054368330   ⟹   XP_054224305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01162,591,666 - 62,600,784 (-)NCBI
RefSeq Acc Id: XM_054368331   ⟹   XP_054224306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01162,591,666 - 62,600,412 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001287722 (Get FASTA)   NCBI Sequence Viewer  
  NP_001287723 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397945 (Get FASTA)   NCBI Sequence Viewer  
  NP_694997 (Get FASTA)   NCBI Sequence Viewer  
  XP_006718552 (Get FASTA)   NCBI Sequence Viewer  
  XP_006718553 (Get FASTA)   NCBI Sequence Viewer  
  XP_006718554 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543198 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543199 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872970 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872971 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282671 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282672 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282673 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282674 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224296 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224297 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224298 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224299 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224300 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224301 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224302 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224303 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224304 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224305 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224306 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI08281 (Get FASTA)   NCBI Sequence Viewer  
  BAC04073 (Get FASTA)   NCBI Sequence Viewer  
  BAC87566 (Get FASTA)   NCBI Sequence Viewer  
  BAG59459 (Get FASTA)   NCBI Sequence Viewer  
  EAW74033 (Get FASTA)   NCBI Sequence Viewer  
  EAW74034 (Get FASTA)   NCBI Sequence Viewer  
  EAW74035 (Get FASTA)   NCBI Sequence Viewer  
  EAW74036 (Get FASTA)   NCBI Sequence Viewer  
  EAW74037 (Get FASTA)   NCBI Sequence Viewer  
  EAW74038 (Get FASTA)   NCBI Sequence Viewer  
  EAW74039 (Get FASTA)   NCBI Sequence Viewer  
  EAW74040 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000278845
  ENSP00000278845.4
  ENSP00000378254
  ENSP00000378254.2
  ENSP00000378256
  ENSP00000378256.4
  ENSP00000409611.1
  ENSP00000411572.1
  ENSP00000431752.1
  ENSP00000433417
  ENSP00000433417.1
  ENSP00000433706.1
  ENSP00000434513
  ENSP00000434513.1
  ENSP00000435064
  ENSP00000435064.1
  ENSP00000435832.1
GenBank Protein Q32P44 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_694997   ⟸   NM_153265
- Peptide Label: isoform 3
- UniProtKB: Q6ZQW7 (UniProtKB/Swiss-Prot),   Q8NA55 (UniProtKB/Swiss-Prot),   Q32P44 (UniProtKB/Swiss-Prot),   B4DL97 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006718552   ⟸   XM_006718489
- Peptide Label: isoform X1
- UniProtKB: H0Y3M3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006718554   ⟸   XM_006718491
- Peptide Label: isoform X4
- UniProtKB: H0Y3M3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006718553   ⟸   XM_006718490
- Peptide Label: isoform X3
- UniProtKB: H0Y3M3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001287723   ⟸   NM_001300794
- Peptide Label: isoform 2
- UniProtKB: B4DL97 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001287722   ⟸   NM_001300793
- Peptide Label: isoform 1
- UniProtKB: B4DL97 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543198   ⟸   XM_011544896
- Peptide Label: isoform X2
- UniProtKB: H0Y3M3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543199   ⟸   XM_011544897
- Peptide Label: isoform X5
- UniProtKB: H0Y3M3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016872971   ⟸   XM_017017482
- Peptide Label: isoform X10
- UniProtKB: A0A024R532 (UniProtKB/TrEMBL),   G3V195 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016872970   ⟸   XM_017017481
- Peptide Label: isoform X9
- UniProtKB: G3V1D0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000409611   ⟸   ENST00000439994
RefSeq Acc Id: ENSP00000433706   ⟸   ENST00000466886
RefSeq Acc Id: ENSP00000435832   ⟸   ENST00000466671
RefSeq Acc Id: ENSP00000433417   ⟸   ENST00000531557
RefSeq Acc Id: ENSP00000431752   ⟸   ENST00000494448
RefSeq Acc Id: ENSP00000435064   ⟸   ENST00000494176
RefSeq Acc Id: ENSP00000411572   ⟸   ENST00000419857
RefSeq Acc Id: ENSP00000378256   ⟸   ENST00000394776
RefSeq Acc Id: ENSP00000378254   ⟸   ENST00000394773
RefSeq Acc Id: ENSP00000278845   ⟸   ENST00000278845
RefSeq Acc Id: ENSP00000434513   ⟸   ENST00000529309
RefSeq Acc Id: XP_047282672   ⟸   XM_047426716
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047282673   ⟸   XM_047426717
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047282671   ⟸   XM_047426715
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047282674   ⟸   XM_047426718
- Peptide Label: isoform X11
RefSeq Acc Id: NP_001397945   ⟸   NM_001411016
- Peptide Label: isoform 4
- UniProtKB: B7WPE2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054224302   ⟸   XM_054368327
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054224303   ⟸   XM_054368328
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054224298   ⟸   XM_054368323
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054224300   ⟸   XM_054368325
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054224297   ⟸   XM_054368322
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054224296   ⟸   XM_054368321
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054224299   ⟸   XM_054368324
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054224301   ⟸   XM_054368326
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054224304   ⟸   XM_054368329
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054224305   ⟸   XM_054368330
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054224306   ⟸   XM_054368331
- Peptide Label: isoform X11
Protein Domains
HELP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q32P44-F1-model_v2 AlphaFold Q32P44 1-896 view protein structure

Promoters
RGD ID:6809990
Promoter ID:HG_ACW:12428
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:EML3ANDMTA2.EAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361162,123,101 - 62,123,601 (-)MPROMDB
RGD ID:6809991
Promoter ID:HG_ACW:12429
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:EML3ANDMTA2.RAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361162,125,076 - 62,125,576 (-)MPROMDB
RGD ID:6788741
Promoter ID:HG_KWN:13107
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000313444
Position:
Human AssemblyChrPosition (strand)Source
Build 361162,127,726 - 62,128,226 (-)MPROMDB
RGD ID:6788742
Promoter ID:HG_KWN:13110
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000278845,   OTTHUMT00000313432,   OTTHUMT00000313433,   OTTHUMT00000313435,   OTTHUMT00000313436,   OTTHUMT00000313437,   OTTHUMT00000313439,   UC001NTR.1,   UC001NTS.1,   UC001NTT.1,   UC009YNY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361162,136,231 - 62,136,807 (-)MPROMDB
RGD ID:7220657
Promoter ID:EPDNEW_H16074
Type:initiation region
Name:EML3_1
Description:echinoderm microtubule associated protein like 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,612,746 - 62,612,806EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26666 AgrOrtholog
COSMIC EML3 COSMIC
Ensembl Genes ENSG00000149499 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000278845 ENTREZGENE
  ENST00000278845.8 UniProtKB/TrEMBL
  ENST00000394773 ENTREZGENE
  ENST00000394773.7 UniProtKB/Swiss-Prot
  ENST00000394776 ENTREZGENE
  ENST00000394776.8 UniProtKB/TrEMBL
  ENST00000419857.1 UniProtKB/TrEMBL
  ENST00000439994.5 UniProtKB/TrEMBL
  ENST00000466671.5 UniProtKB/TrEMBL
  ENST00000466886.5 UniProtKB/TrEMBL
  ENST00000494176 ENTREZGENE
  ENST00000494176.6 UniProtKB/TrEMBL
  ENST00000494448.5 UniProtKB/Swiss-Prot
  ENST00000529309 ENTREZGENE
  ENST00000529309.5 UniProtKB/Swiss-Prot
  ENST00000531557 ENTREZGENE
  ENST00000531557.5 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000149499 GTEx
HGNC ID HGNC:26666 ENTREZGENE
Human Proteome Map EML3 Human Proteome Map
InterPro HELP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Quinoprotein_ADH-like_supfam 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_dom_sf UniProtKB/TrEMBL
KEGG Report hsa:256364 UniProtKB/Swiss-Prot
NCBI Gene 256364 ENTREZGENE
OMIM 618118 OMIM
PANTHER ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN-LIKE 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD-40 REPEAT PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HELP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671910 PharmGKB
PROSITE 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 Peptidase/esterase 'gauge' domain UniProtKB/TrEMBL
  SSF50978 UniProtKB/TrEMBL
  SSF50998 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R532 ENTREZGENE
  B4DL97 ENTREZGENE, UniProtKB/TrEMBL
  B7WPE2 ENTREZGENE, UniProtKB/TrEMBL
  C9J6V3_HUMAN UniProtKB/TrEMBL
  E9PJV5_HUMAN UniProtKB/TrEMBL
  E9PSB4_HUMAN UniProtKB/TrEMBL
  EMAL3_HUMAN UniProtKB/Swiss-Prot
  G3V195 ENTREZGENE, UniProtKB/TrEMBL
  G3V1D0 ENTREZGENE, UniProtKB/TrEMBL
  H0Y3M3 ENTREZGENE, UniProtKB/TrEMBL
  H7C355_HUMAN UniProtKB/TrEMBL
  Q32P44 ENTREZGENE
  Q6ZQW7 ENTREZGENE
  Q8NA55 ENTREZGENE
UniProt Secondary A0A024R532 UniProtKB/TrEMBL
  Q6ZQW7 UniProtKB/Swiss-Prot
  Q8NA55 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-11-29 EML3  EMAP like 3    echinoderm microtubule associated protein like 3  Symbol and/or name change 5135510 APPROVED