DAGLA (diacylglycerol lipase alpha) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: DAGLA (diacylglycerol lipase alpha) Homo sapiens
Analyze
Symbol: DAGLA
Name: diacylglycerol lipase alpha
RGD ID: 1343376
HGNC Page HGNC:1165
Description: Predicted to enable lipoprotein lipase activity. Involved in arachidonic acid metabolic process; diacylglycerol catabolic process; and retrograde trans-synaptic signaling by endocannabinoid. Located in dendrite membrane; early endosome membrane; and postsynaptic density membrane. Implicated in lung cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C11orf11; chromosome 11 open reading frame 11; DAGL(ALPHA); DAGL-alpha; DAGLALPHA; DGL-alpha; diacylglycerol lipase-alpha; neural stem cell-derived dendrite regulator; NSDDR; sn1-specific diacylglycerol lipase alpha
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
GRCh381161,680,391 - 61,747,001 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1161,680,391 - 61,747,001 (+)EnsemblGRCh38hg38GRCh38
GRCh371161,447,863 - 61,514,473 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361161,204,486 - 61,271,049 (+)NCBINCBI36Build 36hg18NCBI36
Build 341161,204,485 - 61,271,048NCBI
Celera1158,783,359 - 58,849,887 (+)NCBICelera
Cytogenetic Map11q12.2NCBI
HuRef1157,776,095 - 57,842,730 (+)NCBIHuRef
CHM1_11161,331,166 - 61,397,733 (+)NCBICHM1_1
T2T-CHM13v2.01161,669,309 - 61,735,921 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Systematical analyses of variants in CTCF-binding sites identified a novel lung cancer susceptibility locus among Chinese population. Dai J, etal., Sci Rep. 2015 Jan 16;5:7833. doi: 10.1038/srep07833.
2. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9734811   PMID:12168954   PMID:12477932   PMID:14610053   PMID:16051747   PMID:18801880   PMID:21829377   PMID:21873635   PMID:22610502   PMID:22658674   PMID:22827915   PMID:23502535  
PMID:24076015   PMID:24616451   PMID:24823311   PMID:26186194   PMID:27595600   PMID:28514442   PMID:28611215   PMID:29145497   PMID:29477030   PMID:29507755   PMID:29614312   PMID:32296183  
PMID:33306668   PMID:33637726   PMID:33961781   PMID:37414748  


Genomics

Comparative Map Data
DAGLA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381161,680,391 - 61,747,001 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1161,680,391 - 61,747,001 (+)EnsemblGRCh38hg38GRCh38
GRCh371161,447,863 - 61,514,473 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361161,204,486 - 61,271,049 (+)NCBINCBI36Build 36hg18NCBI36
Build 341161,204,485 - 61,271,048NCBI
Celera1158,783,359 - 58,849,887 (+)NCBICelera
Cytogenetic Map11q12.2NCBI
HuRef1157,776,095 - 57,842,730 (+)NCBIHuRef
CHM1_11161,331,166 - 61,397,733 (+)NCBICHM1_1
T2T-CHM13v2.01161,669,309 - 61,735,921 (+)NCBIT2T-CHM13v2.0
Dagla
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391910,222,629 - 10,282,323 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1910,222,629 - 10,282,241 (-)EnsemblGRCm39 Ensembl
GRCm381910,245,265 - 10,304,877 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1910,245,265 - 10,304,877 (-)EnsemblGRCm38mm10GRCm38
MGSCv371910,319,755 - 10,379,367 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361910,314,709 - 10,338,633 (-)NCBIMGSCv36mm8
Celera1910,941,259 - 11,000,633 (-)NCBICelera
Cytogenetic Map19ANCBI
cM Map196.55NCBI
Dagla
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81216,315,515 - 216,372,219 (-)NCBIGRCr8
mRatBN7.21206,890,635 - 206,947,332 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1206,890,638 - 206,947,232 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1215,269,042 - 215,325,636 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01222,324,194 - 222,380,864 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01215,019,202 - 215,075,872 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01226,297,013 - 226,353,712 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1226,297,016 - 226,353,611 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01233,241,960 - 233,298,558 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41212,733,659 - 212,790,254 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11212,892,088 - 212,948,684 (-)NCBI
Celera1204,387,304 - 204,443,897 (-)NCBICelera
Cytogenetic Map1q43NCBI
Dagla
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555115,952,087 - 5,974,172 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555115,952,134 - 5,997,280 (-)NCBIChiLan1.0ChiLan1.0
DAGLA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2962,848,284 - 62,915,337 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11163,891,908 - 63,958,984 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01156,979,558 - 57,046,589 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11160,378,493 - 60,407,095 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1160,378,493 - 60,407,095 (+)Ensemblpanpan1.1panPan2
DAGLA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11854,727,932 - 54,754,077 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1854,730,454 - 54,752,646 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1853,302,775 - 53,364,054 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01855,774,807 - 55,836,307 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1855,777,324 - 55,799,491 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11854,835,389 - 54,896,860 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01854,459,494 - 54,518,273 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01855,337,327 - 55,398,846 (-)NCBIUU_Cfam_GSD_1.0
Dagla
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494711,257,463 - 11,316,909 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365811,371,262 - 1,430,801 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365811,371,292 - 1,430,699 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DAGLA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl29,802,012 - 9,863,865 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.129,802,011 - 9,863,808 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.229,351,888 - 9,378,424 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DAGLA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1112,110,100 - 12,175,935 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl112,108,810 - 12,136,105 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038109,483,813 - 109,550,081 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dagla
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624926638,259 - 656,953 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624926638,432 - 680,726 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DAGLA
58 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006133.2(DAGLA):c.2765A>G (p.Asn922Ser) single nucleotide variant Malignant melanoma [RCV000069556] Chr11:61744125 [GRCh38]
Chr11:61511597 [GRCh37]
Chr11:61268173 [NCBI36]
Chr11:11q12.2		 not provided
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
GRCh38/hg38 11q12.2(chr11:61409529-61821159)x3 copy number gain See cases [RCV000136058] Chr11:61409529..61821159 [GRCh38]
Chr11:61177001..61588631 [GRCh37]
Chr11:60933577..61345207 [NCBI36]
Chr11:11q12.2		 likely benign
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
NM_006133.3(DAGLA):c.2605C>T (p.Arg869Trp) single nucleotide variant Inborn genetic diseases [RCV003300739] Chr11:61743965 [GRCh38]
Chr11:61511437 [GRCh37]
Chr11:11q12.2		 uncertain significance
GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3 copy number gain not provided [RCV000683362] Chr11:58935215..62177656 [GRCh37]
Chr11:11q12.1-12.3		 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
NM_006133.3(DAGLA):c.2052C>A (p.Thr684=) single nucleotide variant not provided [RCV000896750] Chr11:61741230 [GRCh38]
Chr11:61508702 [GRCh37]
Chr11:11q12.2		 likely benign
NM_006133.3(DAGLA):c.2740_2742delinsCTCAGGTGCTG (p.Ala914fs) indel not provided [RCV003238992] Chr11:61744100..61744102 [GRCh38]
Chr11:61511572..61511574 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_006133.3(DAGLA):c.1005C>T (p.Phe335=) single nucleotide variant DAGLA-related condition [RCV003905923]|not provided [RCV000967208] Chr11:61734879 [GRCh38]
Chr11:61502351 [GRCh37]
Chr11:11q12.2		 benign
NM_006133.3(DAGLA):c.2962C>G (p.Leu988Val) single nucleotide variant not provided [RCV000967858] Chr11:61744322 [GRCh38]
Chr11:61511794 [GRCh37]
Chr11:11q12.2		 benign
NM_006133.3(DAGLA):c.780T>C (p.Asn260=) single nucleotide variant not provided [RCV000923476] Chr11:61728939 [GRCh38]
Chr11:61496411 [GRCh37]
Chr11:11q12.2		 likely benign
NM_006133.3(DAGLA):c.1542G>A (p.Glu514=) single nucleotide variant not provided [RCV000919884] Chr11:61737714 [GRCh38]
Chr11:61505186 [GRCh37]
Chr11:11q12.2		 likely benign
NM_006133.3(DAGLA):c.471C>T (p.Phe157=) single nucleotide variant not provided [RCV000965169] Chr11:61723495 [GRCh38]
Chr11:61490967 [GRCh37]
Chr11:11q12.2		 benign
NM_006133.3(DAGLA):c.3049G>C (p.Asp1017His) single nucleotide variant Attention deficit hyperactivity disorder [RCV000851206] Chr11:61744409 [GRCh38]
Chr11:61511881 [GRCh37]
Chr11:11q12.2		 uncertain significance
GRCh37/hg19 11q12.2(chr11:60499486-61529578)x3 copy number gain not provided [RCV000848682] Chr11:60499486..61529578 [GRCh37]
Chr11:11q12.2		 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
NM_006133.3(DAGLA):c.2007G>C (p.Gly669=) single nucleotide variant not provided [RCV001200345] Chr11:61741185 [GRCh38]
Chr11:61508657 [GRCh37]
Chr11:11q12.2		 likely benign
NM_006133.3(DAGLA):c.2204G>T (p.Gly735Val) single nucleotide variant DAGLA-related condition [RCV003978304]|not provided [RCV000956950] Chr11:61743564 [GRCh38]
Chr11:61511036 [GRCh37]
Chr11:11q12.2		 benign
NM_006133.3(DAGLA):c.2301G>A (p.Ala767=) single nucleotide variant DAGLA-related condition [RCV003975961]|not provided [RCV001687406] Chr11:61743661 [GRCh38]
Chr11:61511133 [GRCh37]
Chr11:11q12.2		 benign
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
NC_000011.9:g.(?_61197619)_(61552680_?)del deletion Hereditary pheochromocytoma-paraganglioma [RCV003119804] Chr11:61197619..61552680 [GRCh37]
Chr11:11q12.2		 pathogenic
NM_006133.3(DAGLA):c.881A>G (p.Tyr294Cys) single nucleotide variant not provided [RCV003234483] Chr11:61731348 [GRCh38]
Chr11:61498820 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_006133.3(DAGLA):c.2456_2457del (p.His819fs) deletion DAGLA-related condition [RCV003234740] Chr11:61743815..61743816 [GRCh38]
Chr11:61511287..61511288 [GRCh37]
Chr11:11q12.2		 uncertain significance
GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3 copy number gain See cases [RCV002286338] Chr11:51581311..54891247 [GRCh37]
Chr11:11p11.2-q12.2		 pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_006133.3(DAGLA):c.1167C>A (p.Asp389Glu) single nucleotide variant Inborn genetic diseases [RCV002991976] Chr11:61735599 [GRCh38]
Chr11:61503071 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_006133.3(DAGLA):c.2318G>A (p.Arg773Gln) single nucleotide variant Inborn genetic diseases [RCV002946345] Chr11:61743678 [GRCh38]
Chr11:61511150 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_006133.3(DAGLA):c.2192T>C (p.Met731Thr) single nucleotide variant Inborn genetic diseases [RCV002882544] Chr11:61743552 [GRCh38]
Chr11:61511024 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_006133.3(DAGLA):c.2317C>T (p.Arg773Trp) single nucleotide variant Inborn genetic diseases [RCV002951733] Chr11:61743677 [GRCh38]
Chr11:61511149 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_006133.3(DAGLA):c.2147C>T (p.Ala716Val) single nucleotide variant Inborn genetic diseases [RCV002783818] Chr11:61741325 [GRCh38]
Chr11:61508797 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_006133.3(DAGLA):c.743G>A (p.Arg248Gln) single nucleotide variant Inborn genetic diseases [RCV002692249] Chr11:61728259 [GRCh38]
Chr11:61495731 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_006133.3(DAGLA):c.2893G>A (p.Glu965Lys) single nucleotide variant Inborn genetic diseases [RCV002705009] Chr11:61744253 [GRCh38]
Chr11:61511725 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_006133.3(DAGLA):c.1379G>T (p.Gly460Val) single nucleotide variant Inborn genetic diseases [RCV002768280] Chr11:61737189 [GRCh38]
Chr11:61504661 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_006133.3(DAGLA):c.3011C>T (p.Thr1004Met) single nucleotide variant Inborn genetic diseases [RCV002792337] Chr11:61744371 [GRCh38]
Chr11:61511843 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_006133.3(DAGLA):c.2282C>T (p.Ser761Phe) single nucleotide variant Inborn genetic diseases [RCV002934885] Chr11:61743642 [GRCh38]
Chr11:61511114 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_006133.3(DAGLA):c.2261C>T (p.Pro754Leu) single nucleotide variant Inborn genetic diseases [RCV002679888] Chr11:61743621 [GRCh38]
Chr11:61511093 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_006133.3(DAGLA):c.1064G>A (p.Arg355Gln) single nucleotide variant Inborn genetic diseases [RCV003184261] Chr11:61734938 [GRCh38]
Chr11:61502410 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_006133.3(DAGLA):c.3070C>G (p.Pro1024Ala) single nucleotide variant Inborn genetic diseases [RCV003204787] Chr11:61744430 [GRCh38]
Chr11:61511902 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_006133.3(DAGLA):c.3125G>T (p.Arg1042Leu) single nucleotide variant Inborn genetic diseases [RCV003185304] Chr11:61744485 [GRCh38]
Chr11:61511957 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_006133.3(DAGLA):c.3036A>T (p.Glu1012Asp) single nucleotide variant Inborn genetic diseases [RCV003175761] Chr11:61744396 [GRCh38]
Chr11:61511868 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_006133.3(DAGLA):c.2167G>A (p.Val723Ile) single nucleotide variant Inborn genetic diseases [RCV003173692] Chr11:61741345 [GRCh38]
Chr11:61508817 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_006133.3(DAGLA):c.166G>A (p.Val56Met) single nucleotide variant Inborn genetic diseases [RCV003361330] Chr11:61720749 [GRCh38]
Chr11:61488221 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_006133.3(DAGLA):c.757G>A (p.Ala253Thr) single nucleotide variant Inborn genetic diseases [RCV003384701] Chr11:61728273 [GRCh38]
Chr11:61495745 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_006133.3(DAGLA):c.124G>A (p.Gly42Ser) single nucleotide variant Inborn genetic diseases [RCV003354615] Chr11:61720707 [GRCh38]
Chr11:61488179 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_006133.3(DAGLA):c.161A>G (p.Asn54Ser) single nucleotide variant Inborn genetic diseases [RCV003373916] Chr11:61720744 [GRCh38]
Chr11:61488216 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_006133.3(DAGLA):c.3125G>C (p.Arg1042Pro) single nucleotide variant Inborn genetic diseases [RCV003362307] Chr11:61744485 [GRCh38]
Chr11:61511957 [GRCh37]
Chr11:11q12.2		 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
NM_006133.3(DAGLA):c.2551C>T (p.Gln851Ter) single nucleotide variant not provided [RCV003441472] Chr11:61743911 [GRCh38]
Chr11:61511383 [GRCh37]
Chr11:11q12.2		 likely pathogenic
NM_006133.3(DAGLA):c.2437_2446del (p.Leu813fs) deletion Autosomal dominant cerebellar ataxia [RCV003444169] Chr11:61743794..61743803 [GRCh38]
Chr11:61511266..61511275 [GRCh37]
Chr11:11q12.2		 likely pathogenic
NM_006133.3(DAGLA):c.2468T>C (p.Ile823Thr) single nucleotide variant not provided [RCV003456604] Chr11:61743828 [GRCh38]
Chr11:61511300 [GRCh37]
Chr11:11q12.2		 uncertain significance
NM_006133.3(DAGLA):c.1128G>A (p.Ala376=) single nucleotide variant not provided [RCV003395830] Chr11:61735002 [GRCh38]
Chr11:61502474 [GRCh37]
Chr11:11q12.2		 likely benign
NM_006133.3(DAGLA):c.856A>T (p.Met286Leu) single nucleotide variant DAGLA-related condition [RCV003416864] Chr11:61731323 [GRCh38]
Chr11:61498795 [GRCh37]
Chr11:11q12.2		 uncertain significance
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
NM_006133.3(DAGLA):c.1785C>G (p.Ala595=) single nucleotide variant DAGLA-related condition [RCV003951449] Chr11:61739593 [GRCh38]
Chr11:61507065 [GRCh37]
Chr11:11q12.2		 likely benign
NM_006133.3(DAGLA):c.246C>T (p.Arg82=) single nucleotide variant DAGLA-related condition [RCV003911512] Chr11:61720829 [GRCh38]
Chr11:61488301 [GRCh37]
Chr11:11q12.2		 likely benign
NM_006133.3(DAGLA):c.2666C>T (p.Pro889Leu) single nucleotide variant DAGLA-related condition [RCV003981952] Chr11:61744026 [GRCh38]
Chr11:61511498 [GRCh37]
Chr11:11q12.2		 benign
NM_006133.3(DAGLA):c.1983+10C>T single nucleotide variant DAGLA-related condition [RCV003979105] Chr11:61740602 [GRCh38]
Chr11:61508074 [GRCh37]
Chr11:11q12.2		 benign
NM_006133.3(DAGLA):c.63G>A (p.Pro21=) single nucleotide variant DAGLA-related condition [RCV003977293] Chr11:61720218 [GRCh38]
Chr11:61487690 [GRCh37]
Chr11:11q12.2		 benign
NM_006133.3(DAGLA):c.2484C>T (p.Pro828=) single nucleotide variant DAGLA-related condition [RCV003929456] Chr11:61743844 [GRCh38]
Chr11:61511316 [GRCh37]
Chr11:11q12.2		 likely benign
NM_006133.3(DAGLA):c.410-4G>A single nucleotide variant DAGLA-related condition [RCV003961947] Chr11:61723430 [GRCh38]
Chr11:61490902 [GRCh37]
Chr11:11q12.2		 likely benign
NM_006133.3(DAGLA):c.2246C>T (p.Ala749Val) single nucleotide variant DAGLA-related condition [RCV003964446] Chr11:61743606 [GRCh38]
Chr11:61511078 [GRCh37]
Chr11:11q12.2		 likely benign
NM_006133.3(DAGLA):c.2661C>T (p.Gly887=) single nucleotide variant DAGLA-related condition [RCV003927070] Chr11:61744021 [GRCh38]
Chr11:61511493 [GRCh37]
Chr11:11q12.2		 likely benign
NM_006133.3(DAGLA):c.2439G>A (p.Leu813=) single nucleotide variant DAGLA-related condition [RCV003931983] Chr11:61743799 [GRCh38]
Chr11:61511271 [GRCh37]
Chr11:11q12.2		 benign
NM_006133.3(DAGLA):c.1524G>A (p.Ala508=) single nucleotide variant DAGLA-related condition [RCV003984702] Chr11:61737696 [GRCh38]
Chr11:61505168 [GRCh37]
Chr11:11q12.2		 benign
NM_006133.3(DAGLA):c.12C>T (p.Ile4=) single nucleotide variant DAGLA-related condition [RCV003961939] Chr11:61720167 [GRCh38]
Chr11:61487639 [GRCh37]
Chr11:11q12.2		 likely benign
NM_006133.3(DAGLA):c.2249C>T (p.Ala750Val) single nucleotide variant DAGLA-related condition [RCV003919424] Chr11:61743609 [GRCh38]
Chr11:61511081 [GRCh37]
Chr11:11q12.2		 likely benign
NM_006133.3(DAGLA):c.1657-4G>A single nucleotide variant DAGLA-related condition [RCV003934374] Chr11:61739461 [GRCh38]
Chr11:61506933 [GRCh37]
Chr11:11q12.2		 likely benign
NM_006133.3(DAGLA):c.2244G>A (p.Ala748=) single nucleotide variant DAGLA-related condition [RCV003969203] Chr11:61743604 [GRCh38]
Chr11:61511076 [GRCh37]
Chr11:11q12.2		 likely benign
NM_006133.3(DAGLA):c.380A>G (p.Asn127Ser) single nucleotide variant DAGLA-related condition [RCV003893969] Chr11:61722931 [GRCh38]
Chr11:61490403 [GRCh37]
Chr11:11q12.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5003
Count of miRNA genes:1019
Interacting mature miRNAs:1261
Transcripts:ENST00000257215, ENST00000540717
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.


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 135 2 38 31 2 25 74 40 1295 21 118 134 12 1 21
Low 2299 2321 1474 389 773 237 4159 2087 2431 357 1317 1471 162 1 1203 2692 2 2
Below cutoff 5 663 210 201 798 200 124 69 8 41 25 5 1 75 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_006133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB014559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI702626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY275377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC152453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI963857 (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

Reference Sequences
RefSeq Acc Id: ENST00000257215   ⟹   ENSP00000257215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,680,391 - 61,747,001 (+)Ensembl
RefSeq Acc Id: ENST00000540717   ⟹   ENSP00000440264
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,680,467 - 61,747,000 (+)Ensembl
RefSeq Acc Id: NM_006133   ⟹   NP_006124
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,680,391 - 61,747,001 (+)NCBI
GRCh371161,447,905 - 61,514,474 (+)ENTREZGENE
Build 361161,204,486 - 61,271,049 (+)NCBI Archive
Celera1158,783,359 - 58,849,887 (+)RGD
HuRef1157,776,095 - 57,842,730 (+)ENTREZGENE
CHM1_11161,331,166 - 61,397,733 (+)NCBI
T2T-CHM13v2.01161,669,309 - 61,735,921 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047427540   ⟹   XP_047283496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,718,737 - 61,747,001 (+)NCBI
RefSeq Acc Id: XM_047427541   ⟹   XP_047283497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,682,503 - 61,747,001 (+)NCBI
RefSeq Acc Id: XM_047427542   ⟹   XP_047283498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,684,541 - 61,747,001 (+)NCBI
RefSeq Acc Id: XM_047427543   ⟹   XP_047283499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,680,812 - 61,747,001 (+)NCBI
RefSeq Acc Id: XM_047427544   ⟹   XP_047283500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,680,391 - 61,747,001 (+)NCBI
RefSeq Acc Id: XM_047427545   ⟹   XP_047283501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,718,737 - 61,739,625 (+)NCBI
RefSeq Acc Id: XM_054369852   ⟹   XP_054225827
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01161,707,703 - 61,735,921 (+)NCBI
RefSeq Acc Id: XM_054369853   ⟹   XP_054225828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01161,669,781 - 61,735,921 (+)NCBI
RefSeq Acc Id: XM_054369854   ⟹   XP_054225829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01161,669,729 - 61,735,921 (+)NCBI
RefSeq Acc Id: XM_054369855   ⟹   XP_054225830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01161,669,309 - 61,735,921 (+)NCBI
RefSeq Acc Id: XM_054369856   ⟹   XP_054225831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01161,707,704 - 61,728,545 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_006124   ⟸   NM_006133
- UniProtKB: A7E233 (UniProtKB/Swiss-Prot),   Q6WQJ0 (UniProtKB/Swiss-Prot),   Q9Y4D2 (UniProtKB/Swiss-Prot),   A0A024R517 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000257215   ⟸   ENST00000257215
RefSeq Acc Id: ENSP00000440264   ⟸   ENST00000540717
RefSeq Acc Id: XP_047283500   ⟸   XM_047427544
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047283499   ⟸   XM_047427543
- Peptide Label: isoform X1
- UniProtKB: Q9Y4D2 (UniProtKB/Swiss-Prot),   A7E233 (UniProtKB/Swiss-Prot),   A0A024R517 (UniProtKB/Swiss-Prot),   Q6WQJ0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047283497   ⟸   XM_047427541
- Peptide Label: isoform X1
- UniProtKB: Q9Y4D2 (UniProtKB/Swiss-Prot),   A7E233 (UniProtKB/Swiss-Prot),   A0A024R517 (UniProtKB/Swiss-Prot),   Q6WQJ0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047283498   ⟸   XM_047427542
- Peptide Label: isoform X1
- UniProtKB: Q9Y4D2 (UniProtKB/Swiss-Prot),   A7E233 (UniProtKB/Swiss-Prot),   A0A024R517 (UniProtKB/Swiss-Prot),   Q6WQJ0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047283496   ⟸   XM_047427540
- Peptide Label: isoform X1
- UniProtKB: Q9Y4D2 (UniProtKB/Swiss-Prot),   A7E233 (UniProtKB/Swiss-Prot),   A0A024R517 (UniProtKB/Swiss-Prot),   Q6WQJ0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047283501   ⟸   XM_047427545
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054225830   ⟸   XM_054369855
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054225829   ⟸   XM_054369854
- Peptide Label: isoform X1
- UniProtKB: Q9Y4D2 (UniProtKB/Swiss-Prot),   A7E233 (UniProtKB/Swiss-Prot),   A0A024R517 (UniProtKB/Swiss-Prot),   Q6WQJ0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054225828   ⟸   XM_054369853
- Peptide Label: isoform X1
- UniProtKB: Q9Y4D2 (UniProtKB/Swiss-Prot),   A7E233 (UniProtKB/Swiss-Prot),   A0A024R517 (UniProtKB/Swiss-Prot),   Q6WQJ0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054225827   ⟸   XM_054369852
- Peptide Label: isoform X1
- UniProtKB: Q9Y4D2 (UniProtKB/Swiss-Prot),   A7E233 (UniProtKB/Swiss-Prot),   A0A024R517 (UniProtKB/Swiss-Prot),   Q6WQJ0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054225831   ⟸   XM_054369856
- Peptide Label: isoform X3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y4D2-F1-model_v2 AlphaFold Q9Y4D2 1-1042 view protein structure

Promoters
RGD ID:6788670
Promoter ID:HG_KWN:13065
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3
Transcripts:ENST00000257215
Position:
Human AssemblyChrPosition (strand)Source
Build 361161,204,199 - 61,204,699 (+)MPROMDB
RGD ID:7220565
Promoter ID:EPDNEW_H16028
Type:initiation region
Name:DAGLA_1
Description:diacylglycerol lipase alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16027  EPDNEW_H16029  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,680,425 - 61,680,485EPDNEW
RGD ID:7220567
Promoter ID:EPDNEW_H16029
Type:initiation region
Name:DAGLA_3
Description:diacylglycerol lipase alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16027  EPDNEW_H16028  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,682,503 - 61,682,563EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1165 AgrOrtholog
COSMIC DAGLA COSMIC
Ensembl Genes ENSG00000134780 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000257215 ENTREZGENE
  ENST00000257215.10 UniProtKB/Swiss-Prot
  ENST00000540717.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.1820 UniProtKB/Swiss-Prot
GTEx ENSG00000134780 GTEx
HGNC ID HGNC:1165 ENTREZGENE
Human Proteome Map DAGLA Human Proteome Map
InterPro AB_hydrolase UniProtKB/Swiss-Prot
  Fungal_lipase-like UniProtKB/Swiss-Prot
KEGG Report hsa:747 UniProtKB/Swiss-Prot
NCBI Gene 747 ENTREZGENE
OMIM 614015 OMIM
PANTHER DIACYLGLYCEROL LIPASE HOMOLOG-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DIACYLGLYCEROL LIPASE-ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Lipase_3 UniProtKB/Swiss-Prot
PharmGKB PA162383158 PharmGKB
PROSITE LIPASE_SER UniProtKB/Swiss-Prot
Superfamily-SCOP SSF53474 UniProtKB/Swiss-Prot
UniProt A0A024R517 ENTREZGENE
  A7E233 ENTREZGENE
  DGLA_HUMAN UniProtKB/Swiss-Prot
  F5GY58_HUMAN UniProtKB/TrEMBL
  Q6WQJ0 ENTREZGENE
  Q9Y4D2 ENTREZGENE
UniProt Secondary A0A024R517 UniProtKB/Swiss-Prot
  A7E233 UniProtKB/Swiss-Prot
  Q6WQJ0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-08 DAGLA  diacylglycerol lipase alpha    diacylglycerol lipase, alpha  Symbol and/or name change 5135510 APPROVED