EDIL3 (EGF like repeats and discoidin domains 3) - Rat Genome Database

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Gene: EDIL3 (EGF like repeats and discoidin domains 3) Homo sapiens
Analyze
Symbol: EDIL3
Name: EGF like repeats and discoidin domains 3
RGD ID: 1343635
HGNC Page HGNC:3173
Description: Predicted to enable integrin binding activity. Predicted to be involved in cell adhesion. Predicted to act upstream of or within positive regulation of cell-substrate adhesion. Located in collagen-containing extracellular matrix and extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DEL1; developmental endothelial locus-1; developmentally-regulated endothelial cell locus 1 protein; EGF-like repeat and discoidin I-like domain-containing protein 3; EGF-like repeats and discoidin I-like domains 3; integrin-binding protein DEL1; MGC26287
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38583,940,554 - 84,384,880 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl583,940,554 - 84,384,880 (-)EnsemblGRCh38hg38GRCh38
GRCh37583,236,373 - 83,680,698 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36583,273,882 - 83,716,367 (-)NCBINCBI36Build 36hg18NCBI36
Build 34583,273,881 - 83,716,367NCBI
Celera579,143,254 - 79,585,747 (-)NCBICelera
Cytogenetic Map5q14.3NCBI
HuRef578,443,483 - 78,887,547 (-)NCBIHuRef
CHM1_1582,669,378 - 83,113,659 (-)NCBICHM1_1
T2T-CHM13v2.0584,429,063 - 84,873,508 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9420328   PMID:11959660   PMID:12074641   PMID:12477932   PMID:18090124   PMID:19292890   PMID:19578876   PMID:20237162   PMID:20360068   PMID:20379614   PMID:20857535   PMID:20950786  
PMID:21362503   PMID:21873635   PMID:22138694   PMID:22388320   PMID:22601780   PMID:23364949   PMID:23419831   PMID:23602568   PMID:23720494   PMID:23979707   PMID:24388013   PMID:24416060  
PMID:24711643   PMID:24769233   PMID:25240745   PMID:25273699   PMID:26186194   PMID:26545781   PMID:26603257   PMID:26676803   PMID:26735172   PMID:27068509   PMID:28327460   PMID:28447099  
PMID:28514442   PMID:28765888   PMID:28819306   PMID:28846069   PMID:29437247   PMID:30278915   PMID:30455459   PMID:31330520   PMID:31506547   PMID:31536960   PMID:31586073   PMID:32117240  
PMID:32203420   PMID:32393512   PMID:32457219   PMID:32795468   PMID:32817592   PMID:32954935   PMID:33901217   PMID:33961781   PMID:34217213   PMID:34325631   PMID:34538531   PMID:35013218  
PMID:35337019   PMID:35696571   PMID:35914814   PMID:36215168   PMID:36273042   PMID:36517590   PMID:36526897   PMID:36724073   PMID:37120454   PMID:37627279   PMID:38263289   PMID:38396634  
PMID:38456416  


Genomics

Comparative Map Data
EDIL3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38583,940,554 - 84,384,880 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl583,940,554 - 84,384,880 (-)EnsemblGRCh38hg38GRCh38
GRCh37583,236,373 - 83,680,698 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36583,273,882 - 83,716,367 (-)NCBINCBI36Build 36hg18NCBI36
Build 34583,273,881 - 83,716,367NCBI
Celera579,143,254 - 79,585,747 (-)NCBICelera
Cytogenetic Map5q14.3NCBI
HuRef578,443,483 - 78,887,547 (-)NCBIHuRef
CHM1_1582,669,378 - 83,113,659 (-)NCBICHM1_1
T2T-CHM13v2.0584,429,063 - 84,873,508 (-)NCBIT2T-CHM13v2.0
Edil3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391388,969,591 - 89,471,344 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1388,969,591 - 89,471,342 (+)EnsemblGRCm39 Ensembl
GRCm381388,821,472 - 89,323,225 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1388,821,472 - 89,323,223 (+)EnsemblGRCm38mm10GRCm38
MGSCv371388,961,077 - 89,462,830 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361389,295,717 - 89,797,065 (+)NCBIMGSCv36mm8
Celera1392,422,307 - 92,915,061 (+)NCBICelera
Cytogenetic Map13C3NCBI
cM Map1345.3NCBI
Edil3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8221,625,604 - 22,140,380 (+)NCBIGRCr8
mRatBN7.2219,890,396 - 20,405,028 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl219,890,373 - 20,405,008 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0217,616,116 - 18,128,514 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl217,616,401 - 18,128,512 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0217,491,420 - 18,004,418 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4219,057,636 - 19,346,196 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera216,040,531 - 16,554,059 (+)NCBICelera
Cytogenetic Map2q12NCBI
Edil3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541826,391,299 - 26,680,553 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541826,391,309 - 26,680,553 (+)NCBIChiLan1.0ChiLan1.0
EDIL3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2430,916,371 - 31,358,586 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1529,069,996 - 29,512,211 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0530,895,036 - 31,337,176 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1531,215,261 - 31,657,076 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl531,215,260 - 31,654,250 (+)Ensemblpanpan1.1panPan2
EDIL3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1323,417,889 - 23,811,270 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl323,417,835 - 23,808,538 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha324,656,031 - 25,049,581 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0323,317,370 - 23,710,657 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl323,317,283 - 23,710,644 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1323,275,472 - 23,668,218 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0323,247,538 - 23,640,459 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0323,534,804 - 23,928,011 (+)NCBIUU_Cfam_GSD_1.0
Edil3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213179,234,376 - 179,627,376 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364692,996,348 - 3,391,721 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364692,998,424 - 3,391,386 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EDIL3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl292,123,345 - 92,554,191 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1292,122,495 - 92,554,351 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2294,207,480 - 94,655,178 (-)NCBISscrofa10.2Sscrofa10.2susScr3
EDIL3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1478,047,780 - 78,491,217 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl478,047,503 - 78,491,075 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604926,961,846 - 27,416,666 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Edil3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247434,057,687 - 4,481,888 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247434,059,274 - 4,481,999 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EDIL3
37 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 copy number gain See cases [RCV000051839] Chr5:74163186..110809453 [GRCh38]
Chr5:73459011..110145153 [GRCh37]
Chr5:73494767..110173052 [NCBI36]
Chr5:5q13.3-22.1		 pathogenic
NM_005711.4(EDIL3):c.1379C>T (p.Pro460Leu) single nucleotide variant Malignant melanoma [RCV000067026] Chr5:83943483 [GRCh38]
Chr5:83239302 [GRCh37]
Chr5:83275058 [NCBI36]
Chr5:5q14.3		 not provided
NM_005711.4(EDIL3):c.1184G>A (p.Gly395Glu) single nucleotide variant Malignant melanoma [RCV000067027] Chr5:83963314 [GRCh38]
Chr5:83259133 [GRCh37]
Chr5:83294889 [NCBI36]
Chr5:5q14.3		 not provided
NM_005711.4(EDIL3):c.559C>A (p.Gln187Lys) single nucleotide variant Malignant melanoma [RCV000067028] Chr5:84106741 [GRCh38]
Chr5:83402559 [GRCh37]
Chr5:83438315 [NCBI36]
Chr5:5q14.3		 not provided
NM_001278642.1(EDIL3):c.1263+7936A>T single nucleotide variant Lung cancer [RCV000096220] Chr5:83955269 [GRCh38]
Chr5:83251088 [GRCh37]
Chr5:5q14.3		 uncertain significance
NM_001278642.1(EDIL3):c.622-15429G>T single nucleotide variant Lung cancer [RCV000096221] Chr5:84082035 [GRCh38]
Chr5:83377854 [GRCh37]
Chr5:5q14.3		 uncertain significance
NM_001278642.1(EDIL3):c.621+1497G>T single nucleotide variant Lung cancer [RCV000096222] Chr5:84105152 [GRCh38]
Chr5:83400970 [GRCh37]
Chr5:5q14.3		 uncertain significance
NM_001278642.1(EDIL3):c.197-18161C>T single nucleotide variant Lung cancer [RCV000096223] Chr5:84198682 [GRCh38]
Chr5:83494500 [GRCh37]
Chr5:5q14.3		 uncertain significance
NM_001278642.1(EDIL3):c.196+16989G>A single nucleotide variant Lung cancer [RCV000096224] Chr5:84237095 [GRCh38]
Chr5:83532913 [GRCh37]
Chr5:5q14.3		 uncertain significance
GRCh38/hg38 5q14.3(chr5:84342580-85547289)x1 copy number loss See cases [RCV000135384] Chr5:84342580..85547289 [GRCh38]
Chr5:83638398..84843107 [GRCh37]
Chr5:83674154..84878863 [NCBI36]
Chr5:5q14.3		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q14.3(chr5:83625275-84846199)x1 copy number loss not provided [RCV000682574] Chr5:83625275..84846199 [GRCh37]
Chr5:5q14.3		 uncertain significance
GRCh37/hg19 5q14.3(chr5:83628214-83932158)x3 copy number gain not provided [RCV000682575] Chr5:83628214..83932158 [GRCh37]
Chr5:5q14.3		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q14.3(chr5:83329010-83890606)x1 copy number loss not provided [RCV000744899] Chr5:83329010..83890606 [GRCh37]
Chr5:5q14.3		 benign
NM_005711.5(EDIL3):c.68-18dup duplication not provided [RCV000894741] Chr5:84254221..84254222 [GRCh38]
Chr5:83550039..83550040 [GRCh37]
Chr5:5q14.3		 benign
NM_005711.5(EDIL3):c.865A>G (p.Ile289Val) single nucleotide variant not provided [RCV000895648] Chr5:84064787 [GRCh38]
Chr5:83360606 [GRCh37]
Chr5:5q14.3		 likely benign
NM_005711.5(EDIL3):c.719C>T (p.Pro240Leu) single nucleotide variant Inborn genetic diseases [RCV003268633] Chr5:84066539 [GRCh38]
Chr5:83362358 [GRCh37]
Chr5:5q14.3		 uncertain significance
NM_005711.5(EDIL3):c.765G>C (p.Lys255Asn) single nucleotide variant not provided [RCV000881235] Chr5:84066493 [GRCh38]
Chr5:83362312 [GRCh37]
Chr5:5q14.3		 benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
GRCh37/hg19 5q14.3(chr5:83497559-88416354)x1 copy number loss not provided [RCV000849702] Chr5:83497559..88416354 [GRCh37]
Chr5:5q14.3		 pathogenic
GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3 copy number gain not provided [RCV001005683] Chr5:72790061..97478870 [GRCh37]
Chr5:5q13.2-15		 pathogenic
NM_005711.5(EDIL3):c.1137+6G>A single nucleotide variant not provided [RCV000913186] Chr5:84060294 [GRCh38]
Chr5:83356113 [GRCh37]
Chr5:5q14.3		 likely benign
GRCh37/hg19 5q14.2-14.3(chr5:82185951-90110454) copy number loss not specified [RCV002053507] Chr5:82185951..90110454 [GRCh37]
Chr5:5q14.2-14.3		 pathogenic
GRCh37/hg19 5q14.3(chr5:83173756-84170267) copy number gain not specified [RCV002053508] Chr5:83173756..84170267 [GRCh37]
Chr5:5q14.3		 uncertain significance
NM_005711.5(EDIL3):c.823A>G (p.Ile275Val) single nucleotide variant Inborn genetic diseases [RCV002968840] Chr5:84064829 [GRCh38]
Chr5:83360648 [GRCh37]
Chr5:5q14.3		 likely benign
NM_005711.5(EDIL3):c.826G>A (p.Asp276Asn) single nucleotide variant Inborn genetic diseases [RCV002752155] Chr5:84064826 [GRCh38]
Chr5:83360645 [GRCh37]
Chr5:5q14.3		 uncertain significance
NM_005711.5(EDIL3):c.563A>C (p.Lys188Thr) single nucleotide variant Inborn genetic diseases [RCV002732086] Chr5:84106737 [GRCh38]
Chr5:83402555 [GRCh37]
Chr5:5q14.3		 uncertain significance
NM_005711.5(EDIL3):c.867A>G (p.Ile289Met) single nucleotide variant Inborn genetic diseases [RCV002980301] Chr5:84064785 [GRCh38]
Chr5:83360604 [GRCh37]
Chr5:5q14.3		 uncertain significance
NM_005711.5(EDIL3):c.73A>G (p.Ile25Val) single nucleotide variant Inborn genetic diseases [RCV002955890] Chr5:84254207 [GRCh38]
Chr5:83550025 [GRCh37]
Chr5:5q14.3		 uncertain significance
NM_005711.5(EDIL3):c.1030C>T (p.Leu344Phe) single nucleotide variant Inborn genetic diseases [RCV002955989] Chr5:84060407 [GRCh38]
Chr5:83356226 [GRCh37]
Chr5:5q14.3		 uncertain significance
NM_005711.5(EDIL3):c.373G>A (p.Val125Ile) single nucleotide variant Inborn genetic diseases [RCV003004272] Chr5:84137337 [GRCh38]
Chr5:83433155 [GRCh37]
Chr5:5q14.3		 uncertain significance
NM_005711.5(EDIL3):c.263C>T (p.Thr88Ile) single nucleotide variant Inborn genetic diseases [RCV002789907] Chr5:84180485 [GRCh38]
Chr5:83476303 [GRCh37]
Chr5:5q14.3		 uncertain significance
NM_005711.5(EDIL3):c.125C>T (p.Ala42Val) single nucleotide variant Inborn genetic diseases [RCV002939663] Chr5:84254155 [GRCh38]
Chr5:83549973 [GRCh37]
Chr5:5q14.3		 uncertain significance
NM_005711.5(EDIL3):c.749A>G (p.Tyr250Cys) single nucleotide variant Inborn genetic diseases [RCV002718757] Chr5:84066509 [GRCh38]
Chr5:83362328 [GRCh37]
Chr5:5q14.3		 uncertain significance
NM_005711.5(EDIL3):c.542G>A (p.Arg181Gln) single nucleotide variant Inborn genetic diseases [RCV002769146] Chr5:84106758 [GRCh38]
Chr5:83402576 [GRCh37]
Chr5:5q14.3		 uncertain significance
NM_005711.5(EDIL3):c.30G>T (p.Leu10Phe) single nucleotide variant Inborn genetic diseases [RCV002965928] Chr5:84384345 [GRCh38]
Chr5:83680163 [GRCh37]
Chr5:5q14.3		 uncertain significance
NM_005711.5(EDIL3):c.77G>A (p.Cys26Tyr) single nucleotide variant Inborn genetic diseases [RCV002675348] Chr5:84254203 [GRCh38]
Chr5:83550021 [GRCh37]
Chr5:5q14.3		 uncertain significance
NM_005711.5(EDIL3):c.194T>C (p.Val65Ala) single nucleotide variant Inborn genetic diseases [RCV002941445] Chr5:84254086 [GRCh38]
Chr5:83549904 [GRCh37]
Chr5:5q14.3		 uncertain significance
NM_005711.5(EDIL3):c.223G>T (p.Ala75Ser) single nucleotide variant Inborn genetic diseases [RCV002900877] Chr5:84229858 [GRCh38]
Chr5:83525676 [GRCh37]
Chr5:5q14.3		 uncertain significance
NM_005711.5(EDIL3):c.19G>C (p.Val7Leu) single nucleotide variant Inborn genetic diseases [RCV002724402] Chr5:84384356 [GRCh38]
Chr5:83680174 [GRCh37]
Chr5:5q14.3		 uncertain significance
NM_005711.5(EDIL3):c.911A>G (p.His304Arg) single nucleotide variant Inborn genetic diseases [RCV003183376] Chr5:84064741 [GRCh38]
Chr5:83360560 [GRCh37]
Chr5:5q14.3		 uncertain significance
NM_005711.5(EDIL3):c.1205T>C (p.Val402Ala) single nucleotide variant Inborn genetic diseases [RCV003212808] Chr5:83963293 [GRCh38]
Chr5:83259112 [GRCh37]
Chr5:5q14.3		 uncertain significance
NM_005711.5(EDIL3):c.1018A>G (p.Ile340Val) single nucleotide variant Inborn genetic diseases [RCV003206738] Chr5:84060419 [GRCh38]
Chr5:83356238 [GRCh37]
Chr5:5q14.3		 likely benign
NM_005711.5(EDIL3):c.641C>T (p.Pro214Leu) single nucleotide variant Inborn genetic diseases [RCV003308801] Chr5:84106659 [GRCh38]
Chr5:83402477 [GRCh37]
Chr5:5q14.3		 uncertain significance
NM_005711.5(EDIL3):c.149G>C (p.Cys50Ser) single nucleotide variant Inborn genetic diseases [RCV003358487] Chr5:84254131 [GRCh38]
Chr5:83549949 [GRCh37]
Chr5:5q14.3		 uncertain significance
NM_005711.5(EDIL3):c.56A>G (p.Gln19Arg) single nucleotide variant Inborn genetic diseases [RCV003360524] Chr5:84384319 [GRCh38]
Chr5:83680137 [GRCh37]
Chr5:5q14.3		 uncertain significance
GRCh37/hg19 5q14.3(chr5:83186450-85958969)x1 copy number loss not provided [RCV003485469] Chr5:83186450..85958969 [GRCh37]
Chr5:5q14.3		 uncertain significance
GRCh37/hg19 5q14.2-14.3(chr5:82763019-83282008)x3 copy number gain not provided [RCV003484619] Chr5:82763019..83282008 [GRCh37]
Chr5:5q14.2-14.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2026
Count of miRNA genes:633
Interacting mature miRNAs:739
Transcripts:ENST00000296591, ENST00000380138, ENST00000507663, ENST00000510271
Prediction methods: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
D5S459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37583,366,403 - 83,366,539UniSTSGRCh37
Build 36583,402,159 - 83,402,295RGDNCBI36
Celera579,271,489 - 79,271,625RGD
Cytogenetic Map5q14UniSTS
HuRef578,573,534 - 78,573,670UniSTS
Marshfield Genetic Map597.21RGD
Marshfield Genetic Map597.21UniSTS
Genethon Genetic Map595.5UniSTS
TNG Radiation Hybrid Map552143.0UniSTS
deCODE Assembly Map5101.24UniSTS
Stanford-G3 RH Map53120.0UniSTS
NCBI RH Map5427.5UniSTS
GeneMap99-G3 RH Map53115.0UniSTS
D5S1716  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37583,545,097 - 83,545,301UniSTSGRCh37
Build 36583,580,853 - 83,581,057RGDNCBI36
Celera579,450,216 - 79,450,420RGD
Cytogenetic Map5q14UniSTS
HuRef578,752,202 - 78,752,410UniSTS
Marshfield Genetic Map595.25RGD
Marshfield Genetic Map595.25UniSTS
deCODE Assembly Map5101.24UniSTS
Whitehead-RH Map5285.5UniSTS
Whitehead-YAC Contig Map5 UniSTS
D5S107  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37583,599,592 - 83,599,738UniSTSGRCh37
Build 36583,635,348 - 83,635,494RGDNCBI36
Celera579,504,719 - 79,504,865RGD
Cytogenetic Map5q14UniSTS
HuRef578,806,736 - 78,806,882UniSTS
Marshfield Genetic Map595.4RGD
Marshfield Genetic Map595.4UniSTS
deCODE Assembly Map5101.24UniSTS
Whitehead-YAC Contig Map5 UniSTS
SHGC-14406  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37583,474,529 - 83,474,717UniSTSGRCh37
Build 36583,510,285 - 83,510,473RGDNCBI36
Celera579,379,655 - 79,379,843RGD
Cytogenetic Map5q14UniSTS
HuRef578,681,684 - 78,681,872UniSTS
Stanford-G3 RH Map53136.0UniSTS
NCBI RH Map5421.4UniSTS
D5S450E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37583,237,275 - 83,237,337UniSTSGRCh37
Build 36583,273,031 - 83,273,093RGDNCBI36
Celera579,142,403 - 79,142,465RGD
Cytogenetic Map5q14UniSTS
HuRef578,444,344 - 78,444,406UniSTS
SHGC-106458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37583,290,352 - 83,290,685UniSTSGRCh37
Build 36583,326,108 - 83,326,441RGDNCBI36
Celera579,195,415 - 79,195,748RGD
Cytogenetic Map5q14UniSTS
HuRef578,497,576 - 78,497,909UniSTS
TNG Radiation Hybrid Map552107.0UniSTS
SHGC-107388  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37583,243,458 - 83,243,736UniSTSGRCh37
Build 36583,279,214 - 83,279,492RGDNCBI36
Celera579,148,585 - 79,148,863RGD
Cytogenetic Map5q14UniSTS
HuRef578,450,525 - 78,450,803UniSTS
TNG Radiation Hybrid Map552052.0UniSTS
SHGC-142009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37583,364,904 - 83,365,175UniSTSGRCh37
Build 36583,400,660 - 83,400,931RGDNCBI36
Celera579,269,990 - 79,270,261RGD
Cytogenetic Map5q14UniSTS
HuRef578,572,035 - 78,572,306UniSTS
TNG Radiation Hybrid Map552143.0UniSTS
SHGC-153373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37583,249,609 - 83,249,918UniSTSGRCh37
Build 36583,285,365 - 83,285,674RGDNCBI36
Celera579,154,736 - 79,155,045RGD
Cytogenetic Map5q14UniSTS
HuRef578,456,858 - 78,457,167UniSTS
TNG Radiation Hybrid Map552058.0UniSTS
SHGC-104015  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37583,570,793 - 83,571,087UniSTSGRCh37
Build 36583,606,549 - 83,606,843RGDNCBI36
Celera579,475,918 - 79,476,212RGD
Cytogenetic Map5q14UniSTS
HuRef578,777,938 - 78,778,232UniSTS
TNG Radiation Hybrid Map552220.0UniSTS
RH78282  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37583,320,724 - 83,320,894UniSTSGRCh37
Build 36583,356,480 - 83,356,650RGDNCBI36
Celera579,225,802 - 79,225,972RGD
Cytogenetic Map5q14UniSTS
HuRef578,527,954 - 78,528,124UniSTS
GeneMap99-GB4 RH Map5391.52UniSTS
D5S1498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37583,545,157 - 83,545,359UniSTSGRCh37
Build 36583,580,913 - 83,581,115RGDNCBI36
Celera579,450,276 - 79,450,478RGD
Cytogenetic Map5q14UniSTS
HuRef578,752,262 - 78,752,468UniSTS
1404  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37583,379,066 - 83,379,138UniSTSGRCh37
Build 36583,414,822 - 83,414,894RGDNCBI36
Celera579,284,149 - 79,284,221RGD
Cytogenetic Map5q14UniSTS
HuRef578,586,194 - 78,586,266UniSTS
GeneMap99-GB4 RH Map5391.52UniSTS
NCBI RH Map5435.5UniSTS
G10681  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37583,417,303 - 83,417,469UniSTSGRCh37
Build 36583,453,059 - 83,453,225RGDNCBI36
Celera579,322,391 - 79,322,557RGD
Cytogenetic Map5q14UniSTS
HuRef578,624,431 - 78,624,597UniSTS
D5S2641  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37583,236,458 - 83,236,601UniSTSGRCh37
Build 36583,272,214 - 83,272,357RGDNCBI36
Celera579,141,586 - 79,141,729RGD
Cytogenetic Map5q14UniSTS
HuRef578,443,527 - 78,443,670UniSTS
Stanford-G3 RH Map53125.0UniSTS
GeneMap99-G3 RH Map53120.0UniSTS
RH48797  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37583,327,728 - 83,327,885UniSTSGRCh37
Build 36583,363,484 - 83,363,641RGDNCBI36
Celera579,232,814 - 79,232,971RGD
Cytogenetic Map5q14UniSTS
HuRef578,534,956 - 78,535,113UniSTS
GeneMap99-GB4 RH Map5391.52UniSTS
G10695  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37583,417,333 - 83,417,469UniSTSGRCh37
Build 36583,453,089 - 83,453,225RGDNCBI36
Celera579,322,421 - 79,322,557RGD
Cytogenetic Map5q14UniSTS
HuRef578,624,461 - 78,624,597UniSTS


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
High
Medium 1189 1391 247 45 121 37 2066 295 3036 193 492 814 16 602 1268
Low 1155 813 1205 310 397 161 1742 1331 679 213 910 738 158 1 602 996 3
Below cutoff 24 722 257 254 923 254 546 564 7 9 28 29 1 524 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001278642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA053720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC109496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ101116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB504385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ES308783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U70312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U70313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000296591   ⟹   ENSP00000296591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl583,940,554 - 84,384,880 (-)Ensembl
RefSeq Acc Id: ENST00000380138   ⟹   ENSP00000369483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl583,940,600 - 84,384,386 (-)Ensembl
RefSeq Acc Id: ENST00000507663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl584,106,660 - 84,181,242 (-)Ensembl
RefSeq Acc Id: ENST00000510271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl584,047,606 - 84,078,828 (-)Ensembl
RefSeq Acc Id: NM_001278642   ⟹   NP_001265571
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38583,940,595 - 84,384,867 (-)NCBI
HuRef578,443,483 - 78,887,547 (-)NCBI
CHM1_1582,669,378 - 83,113,659 (-)NCBI
T2T-CHM13v2.0584,429,104 - 84,873,495 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005711   ⟹   NP_005702
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38583,940,554 - 84,384,880 (-)NCBI
GRCh37583,236,414 - 83,680,685 (-)NCBI
Build 36583,273,882 - 83,716,367 (-)NCBI Archive
Celera579,143,254 - 79,585,747 (-)RGD
HuRef578,443,483 - 78,887,547 (-)NCBI
CHM1_1582,669,378 - 83,113,659 (-)NCBI
T2T-CHM13v2.0584,429,063 - 84,873,508 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_005702   ⟸   NM_005711
- Peptide Label: isoform 1 precursor
- UniProtKB: Q5D094 (UniProtKB/Swiss-Prot),   O43855 (UniProtKB/Swiss-Prot),   B2R763 (UniProtKB/Swiss-Prot),   Q8N610 (UniProtKB/Swiss-Prot),   O43854 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265571   ⟸   NM_001278642
- Peptide Label: isoform 2 precursor
- UniProtKB: O43854 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000296591   ⟸   ENST00000296591
RefSeq Acc Id: ENSP00000369483   ⟸   ENST00000380138
Protein Domains
EGF-like   F5/8 type C

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43854-F1-model_v2 AlphaFold O43854 1-480 view protein structure

Promoters
RGD ID:6870046
Promoter ID:EPDNEW_H8188
Type:initiation region
Name:EDIL3_2
Description:EGF like repeats and discoidin domains 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8189  EPDNEW_H8190  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38584,384,384 - 84,384,444EPDNEW
RGD ID:6870048
Promoter ID:EPDNEW_H8189
Type:initiation region
Name:EDIL3_3
Description:EGF like repeats and discoidin domains 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8188  EPDNEW_H8190  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38584,384,605 - 84,384,665EPDNEW
RGD ID:6870050
Promoter ID:EPDNEW_H8190
Type:initiation region
Name:EDIL3_1
Description:EGF like repeats and discoidin domains 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8188  EPDNEW_H8189  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38584,384,793 - 84,384,853EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3173 AgrOrtholog
COSMIC EDIL3 COSMIC
Ensembl Genes ENSG00000164176 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000296591 ENTREZGENE
  ENST00000296591.10 UniProtKB/Swiss-Prot
  ENST00000380138 ENTREZGENE
  ENST00000380138.3 UniProtKB/Swiss-Prot
Gene3D-CATH Galactose-binding domain-like UniProtKB/Swiss-Prot
  Laminin UniProtKB/Swiss-Prot
GTEx ENSG00000164176 GTEx
HGNC ID HGNC:3173 ENTREZGENE
Human Proteome Map EDIL3 Human Proteome Map
InterPro EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot
  EGF-like_CS UniProtKB/Swiss-Prot
  EGF-like_dom UniProtKB/Swiss-Prot
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot
  FA58C UniProtKB/Swiss-Prot
  Galactose-bd-like_sf UniProtKB/Swiss-Prot
KEGG Report hsa:10085 UniProtKB/Swiss-Prot
NCBI Gene 10085 ENTREZGENE
OMIM 606018 OMIM
PANTHER EGF-LIKE REPEAT AND DISCOIDIN I-LIKE DOMAIN-CONTAINING PROTEIN 3 PRECURSOR UniProtKB/Swiss-Prot
  F5/8 TYPE C DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot
Pfam EGF UniProtKB/Swiss-Prot
  F5_F8_type_C UniProtKB/Swiss-Prot
  hEGF UniProtKB/Swiss-Prot
PharmGKB PA27613 PharmGKB
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot
  EGF_1 UniProtKB/Swiss-Prot
  EGF_2 UniProtKB/Swiss-Prot
  EGF_3 UniProtKB/Swiss-Prot
  EGF_CA UniProtKB/Swiss-Prot
  FA58C_1 UniProtKB/Swiss-Prot
  FA58C_2 UniProtKB/Swiss-Prot
  FA58C_3 UniProtKB/Swiss-Prot
SMART EGF UniProtKB/Swiss-Prot
  EGF_CA UniProtKB/Swiss-Prot
  FA58C UniProtKB/Swiss-Prot
Superfamily-SCOP EGF/Laminin UniProtKB/Swiss-Prot
  SSF49785 UniProtKB/Swiss-Prot
UniProt B2R763 ENTREZGENE
  EDIL3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  O43855 ENTREZGENE
  Q5D094 ENTREZGENE
  Q8N610 ENTREZGENE
UniProt Secondary B2R763 UniProtKB/Swiss-Prot
  O43855 UniProtKB/Swiss-Prot
  Q5D094 UniProtKB/Swiss-Prot
  Q8N610 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 EDIL3  EGF like repeats and discoidin domains 3  EDIL3  EGF-like repeats and discoidin I-like domains 3  Symbol and/or name change 5135510 APPROVED