DBR1 (debranching RNA lariats 1) - 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 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
Advanced Search (OLGA)
Gene: DBR1 (debranching RNA lariats 1) Homo sapiens
Analyze
Symbol: DBR1
Name: debranching RNA lariats 1
RGD ID: 1323625
HGNC Page HGNC:15594
Description: Enables RNA lariat debranching enzyme activity. Involved in RNA fragment catabolic process and RNA splicing, via transesterification reactions. Located in nucleoplasm. Implicated in brain disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: debranching enzyme homolog 1; lariat debranching enzyme; RNA lariat debranching enzyme; XGIP
RGD Orthologs
Mouse
Rat
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
GRCh383138,160,988 - 138,174,921 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3138,160,988 - 138,174,949 (-)EnsemblGRCh38hg38GRCh38
GRCh373137,879,830 - 137,893,763 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363139,362,542 - 139,376,463 (-)NCBINCBI36Build 36hg18NCBI36
Build 343139,362,550 - 139,376,471NCBI
Celera3136,304,598 - 136,318,559 (-)NCBICelera
Cytogenetic Map3q22.3NCBI
HuRef3135,254,888 - 135,268,849 (-)NCBIHuRef
CHM1_13137,843,634 - 137,857,589 (-)NCBICHM1_1
T2T-CHM13v2.03140,901,580 - 140,915,511 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1850323   PMID:2435736   PMID:10737800   PMID:10982890   PMID:11886864   PMID:12477932   PMID:12766061   PMID:14702039   PMID:15489334   PMID:16232320   PMID:17081983   PMID:21145461  
PMID:21873635   PMID:22658674   PMID:23455922   PMID:23824909   PMID:24189400   PMID:24672043   PMID:25659891   PMID:25671812   PMID:25921289   PMID:26167880   PMID:26186194   PMID:26344197  
PMID:26496610   PMID:26673895   PMID:26797105   PMID:28504715   PMID:28514442   PMID:28695742   PMID:28931690   PMID:29229926   PMID:29474921   PMID:29656893   PMID:29764989   PMID:30021884  
PMID:31551363   PMID:32707033   PMID:32807901   PMID:33111431   PMID:33187986   PMID:33306668   PMID:33742100   PMID:33961781   PMID:34373451   PMID:34728620   PMID:35244467   PMID:35256949  
PMID:35271311   PMID:35509820   PMID:35652658   PMID:35944360   PMID:36215168   PMID:36244648   PMID:36484984   PMID:37267103   PMID:37656279   PMID:37800682   PMID:37827155   PMID:38113892  
PMID:38777146   PMID:38816363  


Genomics

Comparative Map Data
DBR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383138,160,988 - 138,174,921 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3138,160,988 - 138,174,949 (-)EnsemblGRCh38hg38GRCh38
GRCh373137,879,830 - 137,893,763 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363139,362,542 - 139,376,463 (-)NCBINCBI36Build 36hg18NCBI36
Build 343139,362,550 - 139,376,471NCBI
Celera3136,304,598 - 136,318,559 (-)NCBICelera
Cytogenetic Map3q22.3NCBI
HuRef3135,254,888 - 135,268,849 (-)NCBIHuRef
CHM1_13137,843,634 - 137,857,589 (-)NCBICHM1_1
T2T-CHM13v2.03140,901,580 - 140,915,511 (-)NCBIT2T-CHM13v2.0
Dbr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39999,457,839 - 99,467,060 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl999,457,852 - 99,466,554 (+)EnsemblGRCm39 Ensembl
GRCm38999,575,786 - 99,585,007 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl999,575,799 - 99,584,501 (+)EnsemblGRCm38mm10GRCm38
MGSCv37999,476,218 - 99,484,762 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36999,385,151 - 99,393,695 (+)NCBIMGSCv36mm8
Celera999,110,559 - 99,119,100 (+)NCBICelera
Cytogenetic Map9E3.3NCBI
cM Map951.86NCBI
Dbr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88109,018,364 - 109,030,092 (+)NCBIGRCr8
mRatBN7.28100,139,039 - 100,150,768 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl8100,139,034 - 100,151,030 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx8105,805,842 - 105,817,525 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.08104,005,138 - 104,016,821 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.08101,847,672 - 101,859,355 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.08107,826,690 - 107,838,186 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8107,826,424 - 107,838,339 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08107,251,356 - 107,262,732 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48104,443,418 - 104,455,249 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera899,539,355 - 99,551,081 (+)NCBICelera
Cytogenetic Map8q31NCBI
DBR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22136,065,814 - 136,082,053 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13136,068,127 - 136,086,788 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03135,188,636 - 135,202,934 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13142,639,712 - 142,653,016 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3142,639,712 - 142,653,016 (-)Ensemblpanpan1.1panPan2
DBR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12334,375,691 - 34,388,317 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2334,376,228 - 34,388,263 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2334,368,284 - 34,380,893 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02334,915,650 - 34,928,302 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2334,915,650 - 34,928,278 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12334,597,534 - 34,610,147 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02334,662,956 - 34,675,492 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02334,913,997 - 34,926,603 (-)NCBIUU_Cfam_GSD_1.0
Dbr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560273,766,245 - 73,776,137 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936540505,619 - 515,964 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936540504,638 - 515,913 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DBR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1378,958,218 - 78,970,137 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11378,958,301 - 78,970,250 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21386,477,860 - 86,480,220 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DBR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11552,367,197 - 52,381,076 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1552,367,357 - 52,380,227 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604125,381,120 - 25,394,996 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dbr1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473014,681,730 - 14,711,368 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473014,682,951 - 14,693,450 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DBR1
179 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q22.1-23(chr3:132690641-141064444)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051570]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051570]|See cases [RCV000051570] Chr3:132690641..141064444 [GRCh38]
Chr3:132409485..140783286 [GRCh37]
Chr3:133892175..142265976 [NCBI36]
Chr3:3q22.1-23		 pathogenic
GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1 copy number loss See cases [RCV000051572] Chr3:135227451..145870770 [GRCh38]
Chr3:134946293..145588557 [GRCh37]
Chr3:136428983..147071247 [NCBI36]
Chr3:3q22.2-24		 pathogenic
GRCh38/hg38 3q22.3(chr3:137593514-138443019)x3 copy number gain See cases [RCV000051534] Chr3:137593514..138443019 [GRCh38]
Chr3:137312356..138161861 [GRCh37]
Chr3:138795046..139644551 [NCBI36]
Chr3:3q22.3		 uncertain significance
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1 copy number loss See cases [RCV000134711] Chr3:137932000..144468739 [GRCh38]
Chr3:137650842..144187581 [GRCh37]
Chr3:139133532..145670271 [NCBI36]
Chr3:3q22.3-24		 pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1 copy number loss See cases [RCV000136558] Chr3:129817243..143381624 [GRCh38]
Chr3:129536086..143100466 [GRCh37]
Chr3:131018776..144583156 [NCBI36]
Chr3:3q22.1-24		 pathogenic
GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1 copy number loss See cases [RCV000138135] Chr3:134257180..149729538 [GRCh38]
Chr3:133976022..149447325 [GRCh37]
Chr3:135458712..150930015 [NCBI36]
Chr3:3q22.2-25.1		 pathogenic|likely benign
GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1 copy number loss See cases [RCV000139240] Chr3:130401265..139005019 [GRCh38]
Chr3:130120109..138723861 [GRCh37]
Chr3:131602799..140206551 [NCBI36]
Chr3:3q22.1-23		 pathogenic
GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1 copy number loss See cases [RCV000139135] Chr3:137991123..143618786 [GRCh38]
Chr3:137709965..143337628 [GRCh37]
Chr3:139192655..144820318 [NCBI36]
Chr3:3q22.3-24		 pathogenic
GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1 copy number loss See cases [RCV000140453] Chr3:134333553..141701458 [GRCh38]
Chr3:134052395..141420300 [GRCh37]
Chr3:135535085..142902990 [NCBI36]
Chr3:3q22.2-23		 pathogenic
GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1 copy number loss See cases [RCV000140995] Chr3:129817243..141425155 [GRCh38]
Chr3:129536086..141143997 [GRCh37]
Chr3:131018776..142626687 [NCBI36]
Chr3:3q22.1-23		 pathogenic
GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3 copy number gain See cases [RCV000142010] Chr3:126106779..140918089 [GRCh38]
Chr3:125825622..140636931 [GRCh37]
Chr3:127308312..142119621 [NCBI36]
Chr3:3q21.3-23		 uncertain significance
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24		 pathogenic
GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1 copy number loss See cases [RCV000143634] Chr3:132716978..144784743 [GRCh38]
Chr3:132435822..144503585 [GRCh37]
Chr3:133918512..145986275 [NCBI36]
Chr3:3q22.1-24		 pathogenic
GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)x3 copy number gain See cases [RCV000239877] Chr3:135935129..141867748 [GRCh37]
Chr3:3q22.3-23		 likely pathogenic
GRCh37/hg19 3q22.3(chr3:137848838-137882743)x3 copy number gain See cases [RCV000448030] Chr3:137848838..137882743 [GRCh37]
Chr3:3q22.3		 benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_016216.4(DBR1):c.1040G>A (p.Cys347Tyr) single nucleotide variant Inborn genetic diseases [RCV003297788] Chr3:138162484 [GRCh38]
Chr3:137881326 [GRCh37]
Chr3:3q22.3		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q22.2-24(chr3:135288025-146874012) copy number gain not provided [RCV000767703] Chr3:135288025..146874012 [GRCh37]
Chr3:3q22.2-24		 pathogenic
GRCh37/hg19 3q22.2-23(chr3:135186881-140826836)x3 copy number gain not provided [RCV000846949] Chr3:135186881..140826836 [GRCh37]
Chr3:3q22.2-23		 uncertain significance
NM_016216.4(DBR1):c.1599C>T (p.Tyr533=) single nucleotide variant not provided [RCV000919570] Chr3:138161925 [GRCh38]
Chr3:137880767 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.37_38delinsGG (p.Leu13Gly) indel Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 [RCV001542267] Chr3:138174758..138174759 [GRCh38]
Chr3:137893600..137893601 [GRCh37]
Chr3:3q22.3		 risk factor
NM_016216.4(DBR1):c.347G>A (p.Arg116Gln) single nucleotide variant not provided [RCV000921033] Chr3:138171689 [GRCh38]
Chr3:137890531 [GRCh37]
Chr3:3q22.3		 benign
NM_016216.4(DBR1):c.129G>A (p.Val43=) single nucleotide variant not provided [RCV000973348] Chr3:138174667 [GRCh38]
Chr3:137893509 [GRCh37]
Chr3:3q22.3		 benign
NM_016216.4(DBR1):c.1494G>A (p.Glu498=) single nucleotide variant not provided [RCV000889957] Chr3:138162030 [GRCh38]
Chr3:137880872 [GRCh37]
Chr3:3q22.3		 benign
NM_016216.4(DBR1):c.1512C>T (p.Asp504=) single nucleotide variant not provided [RCV002967501] Chr3:138162012 [GRCh38]
Chr3:137880854 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.359T>C (p.Ile120Thr) single nucleotide variant Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 [RCV001542265]|not provided [RCV002568260] Chr3:138171677 [GRCh38]
Chr3:137890519 [GRCh37]
Chr3:3q22.3		 risk factor|uncertain significance
NM_016216.4(DBR1):c.49T>C (p.Tyr17His) single nucleotide variant Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 [RCV001542266] Chr3:138174747 [GRCh38]
Chr3:137893589 [GRCh37]
Chr3:3q22.3		 risk factor
NM_016216.4(DBR1):c.589C>T (p.Arg197Ter) single nucleotide variant Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 [RCV001542268]|not provided [RCV005094760] Chr3:138167206 [GRCh38]
Chr3:137886048 [GRCh37]
Chr3:3q22.3		 risk factor|uncertain significance
NC_000003.11:g.(?_137781658)_(139258560_?)dup duplication not provided [RCV001920549] Chr3:137781658..139258560 [GRCh37]
Chr3:3q22.3-23		 uncertain significance
NM_016216.4(DBR1):c.1445C>T (p.Thr482Met) single nucleotide variant not provided [RCV003110274] Chr3:138162079 [GRCh38]
Chr3:137880921 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1631C>G (p.Ala544Gly) single nucleotide variant not provided [RCV003118243] Chr3:138161893 [GRCh38]
Chr3:137880735 [GRCh37]
Chr3:3q22.3		 uncertain significance
NC_000003.11:g.(?_137781658)_(138665815_?)del deletion not provided [RCV003122619] Chr3:137781658..138665815 [GRCh37]
Chr3:3q22.3		 pathogenic
NM_016216.4(DBR1):c.1363T>C (p.Ser455Pro) single nucleotide variant Inborn genetic diseases [RCV003258058] Chr3:138162161 [GRCh38]
Chr3:137881003 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1367A>G (p.Asp456Gly) single nucleotide variant not provided [RCV002750200] Chr3:138162157 [GRCh38]
Chr3:137880999 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1429G>A (p.Val477Ile) single nucleotide variant Inborn genetic diseases [RCV002860045] Chr3:138162095 [GRCh38]
Chr3:137880937 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.151_158del (p.Cys51fs) deletion not provided [RCV003033084] Chr3:138174638..138174645 [GRCh38]
Chr3:137893480..137893487 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.316T>C (p.Tyr106His) single nucleotide variant not provided [RCV002862164] Chr3:138173508 [GRCh38]
Chr3:137892350 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.70G>T (p.Glu24Ter) single nucleotide variant not provided [RCV002862165] Chr3:138174726 [GRCh38]
Chr3:137893568 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.610A>G (p.Thr204Ala) single nucleotide variant not provided [RCV002858336] Chr3:138167185 [GRCh38]
Chr3:137886027 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.323-14_323-9del deletion not provided [RCV002820052] Chr3:138171722..138171727 [GRCh38]
Chr3:137890564..137890569 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.1043A>T (p.Tyr348Phe) single nucleotide variant not provided [RCV002750966] Chr3:138162481 [GRCh38]
Chr3:137881323 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1373C>A (p.Ala458Asp) single nucleotide variant Inborn genetic diseases [RCV003358032]|not provided [RCV002975045] Chr3:138162151 [GRCh38]
Chr3:137880993 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.322+13G>A single nucleotide variant not provided [RCV002994160] Chr3:138173489 [GRCh38]
Chr3:137892331 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.1513T>A (p.Leu505Ile) single nucleotide variant not provided [RCV002730676] Chr3:138162011 [GRCh38]
Chr3:137880853 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1083T>C (p.His361=) single nucleotide variant not provided [RCV003074586] Chr3:138162441 [GRCh38]
Chr3:137881283 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.1101A>T (p.Thr367=) single nucleotide variant not provided [RCV003032551]|not specified [RCV003491198] Chr3:138162423 [GRCh38]
Chr3:137881265 [GRCh37]
Chr3:3q22.3		 benign
NM_016216.4(DBR1):c.489+4C>T single nucleotide variant not provided [RCV003074668] Chr3:138170103 [GRCh38]
Chr3:137888945 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.404G>A (p.Gly135Asp) single nucleotide variant not provided [RCV002750921] Chr3:138170192 [GRCh38]
Chr3:137889034 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.397C>A (p.Arg133=) single nucleotide variant not provided [RCV002858106] Chr3:138171639 [GRCh38]
Chr3:137890481 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1231C>G (p.Gln411Glu) single nucleotide variant not provided [RCV002755490] Chr3:138162293 [GRCh38]
Chr3:137881135 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.715-4C>T single nucleotide variant not provided [RCV002908751] Chr3:138163862 [GRCh38]
Chr3:137882704 [GRCh37]
Chr3:3q22.3		 benign
NM_016216.4(DBR1):c.795+14A>C single nucleotide variant not provided [RCV002755533] Chr3:138163764 [GRCh38]
Chr3:137882606 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.83C>G (p.Pro28Arg) single nucleotide variant Inborn genetic diseases [RCV004978490]|not provided [RCV003032867] Chr3:138174713 [GRCh38]
Chr3:137893555 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.496C>G (p.Gln166Glu) single nucleotide variant not provided [RCV003016805] Chr3:138167299 [GRCh38]
Chr3:137886141 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.97C>T (p.Leu33Phe) single nucleotide variant not provided [RCV002755884] Chr3:138174699 [GRCh38]
Chr3:137893541 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1031C>T (p.Thr344Ile) single nucleotide variant Inborn genetic diseases [RCV004612245]|not provided [RCV002760530] Chr3:138162493 [GRCh38]
Chr3:137881335 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1280A>G (p.Asp427Gly) single nucleotide variant not provided [RCV002797359] Chr3:138162244 [GRCh38]
Chr3:137881086 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1623_1625del (p.Asp542del) deletion not provided [RCV002927157] Chr3:138161899..138161901 [GRCh38]
Chr3:137880741..137880743 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1337G>A (p.Gly446Asp) single nucleotide variant not provided [RCV002914023] Chr3:138162187 [GRCh38]
Chr3:137881029 [GRCh37]
Chr3:3q22.3		 benign
NM_016216.4(DBR1):c.79G>A (p.Gly27Ser) single nucleotide variant Inborn genetic diseases [RCV004973727]|not provided [RCV002910123] Chr3:138174717 [GRCh38]
Chr3:137893559 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1337G>T (p.Gly446Val) single nucleotide variant not provided [RCV003054255] Chr3:138162187 [GRCh38]
Chr3:137881029 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1417G>A (p.Gly473Ser) single nucleotide variant not provided [RCV002923831] Chr3:138162107 [GRCh38]
Chr3:137880949 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.905T>A (p.Leu302Gln) single nucleotide variant not provided [RCV002820660] Chr3:138163385 [GRCh38]
Chr3:137882227 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.941+17_941+54del deletion not provided [RCV002910152] Chr3:138163295..138163332 [GRCh38]
Chr3:137882137..137882174 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.182T>C (p.Met61Thr) single nucleotide variant not provided [RCV003037966] Chr3:138174614 [GRCh38]
Chr3:137893456 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.590G>A (p.Arg197Gln) single nucleotide variant Inborn genetic diseases [RCV004614250]|not provided [RCV002885980] Chr3:138167205 [GRCh38]
Chr3:137886047 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.489+5G>A single nucleotide variant not provided [RCV003080879] Chr3:138170102 [GRCh38]
Chr3:137888944 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1327G>A (p.Ala443Thr) single nucleotide variant not provided [RCV002820740] Chr3:138162197 [GRCh38]
Chr3:137881039 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.689del (p.Lys230fs) deletion not provided [RCV002847441] Chr3:138167106 [GRCh38]
Chr3:137885948 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.490-20_490-17del deletion not provided [RCV003019280] Chr3:138167322..138167325 [GRCh38]
Chr3:137886164..137886167 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.1091A>G (p.Asn364Ser) single nucleotide variant not provided [RCV002912614] Chr3:138162433 [GRCh38]
Chr3:137881275 [GRCh37]
Chr3:3q22.3		 benign
NM_016216.4(DBR1):c.160G>C (p.Val54Leu) single nucleotide variant not provided [RCV002735847] Chr3:138174636 [GRCh38]
Chr3:137893478 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.553A>T (p.Asn185Tyr) single nucleotide variant Inborn genetic diseases [RCV002737569] Chr3:138167242 [GRCh38]
Chr3:137886084 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.902G>T (p.Arg301Leu) single nucleotide variant not provided [RCV002797069] Chr3:138163388 [GRCh38]
Chr3:137882230 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1046A>G (p.Asp349Gly) single nucleotide variant not provided [RCV002957965] Chr3:138162478 [GRCh38]
Chr3:137881320 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1481G>C (p.Gly494Ala) single nucleotide variant Inborn genetic diseases [RCV002624287]|not provided [RCV002624288] Chr3:138162043 [GRCh38]
Chr3:137880885 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.489+14G>A single nucleotide variant not provided [RCV002740546] Chr3:138170093 [GRCh38]
Chr3:137888935 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.198-17_198-16del deletion not provided [RCV002872207] Chr3:138173642..138173643 [GRCh38]
Chr3:137892484..137892485 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.50A>G (p.Tyr17Cys) single nucleotide variant Inborn genetic diseases [RCV002983823] Chr3:138174746 [GRCh38]
Chr3:137893588 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1114G>A (p.Ala372Thr) single nucleotide variant not provided [RCV003055933] Chr3:138162410 [GRCh38]
Chr3:137881252 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.479A>G (p.Lys160Arg) single nucleotide variant Inborn genetic diseases [RCV004978425]|not provided [RCV002985255] Chr3:138170117 [GRCh38]
Chr3:137888959 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.697G>A (p.Ala233Thr) single nucleotide variant Inborn genetic diseases [RCV002892397] Chr3:138167098 [GRCh38]
Chr3:137885940 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.633A>C (p.Ser211=) single nucleotide variant not provided [RCV002642306] Chr3:138167162 [GRCh38]
Chr3:137886004 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.63G>C (p.Ala21=) single nucleotide variant not provided [RCV002741279] Chr3:138174733 [GRCh38]
Chr3:137893575 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.847A>G (p.Ile283Val) single nucleotide variant Inborn genetic diseases [RCV003090569]|not provided [RCV003083055] Chr3:138163443 [GRCh38]
Chr3:137882285 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1486A>G (p.Thr496Ala) single nucleotide variant Inborn genetic diseases [RCV002929254] Chr3:138162038 [GRCh38]
Chr3:137880880 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.184C>T (p.Gln62Ter) single nucleotide variant not provided [RCV002828589] Chr3:138174612 [GRCh38]
Chr3:137893454 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1219T>C (p.Ser407Pro) single nucleotide variant not provided [RCV003085351] Chr3:138162305 [GRCh38]
Chr3:137881147 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.55A>G (p.Thr19Ala) single nucleotide variant not provided [RCV002953975] Chr3:138174741 [GRCh38]
Chr3:137893583 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.858C>T (p.Leu286=) single nucleotide variant not provided [RCV003025304] Chr3:138163432 [GRCh38]
Chr3:137882274 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.301del (p.Ala101fs) deletion not provided [RCV002929116] Chr3:138173523 [GRCh38]
Chr3:137892365 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.490-30TTCT[2] microsatellite not provided [RCV002740556] Chr3:138167324..138167327 [GRCh38]
Chr3:137886166..137886169 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.890A>T (p.Asn297Ile) single nucleotide variant not provided [RCV002953904] Chr3:138163400 [GRCh38]
Chr3:137882242 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.784G>T (p.Asp262Tyr) single nucleotide variant not provided [RCV002958433] Chr3:138163789 [GRCh38]
Chr3:137882631 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1581G>T (p.Arg527Ser) single nucleotide variant Inborn genetic diseases [RCV003250824]|not provided [RCV002644446] Chr3:138161943 [GRCh38]
Chr3:137880785 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.525T>C (p.Asp175=) single nucleotide variant not provided [RCV002894411] Chr3:138167270 [GRCh38]
Chr3:137886112 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.902G>A (p.Arg301His) single nucleotide variant not provided [RCV002596094] Chr3:138163388 [GRCh38]
Chr3:137882230 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1282G>A (p.Glu428Lys) single nucleotide variant not provided [RCV002853112] Chr3:138162242 [GRCh38]
Chr3:137881084 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.489+13C>T single nucleotide variant not provided [RCV002741914] Chr3:138170094 [GRCh38]
Chr3:137888936 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.1240T>C (p.Tyr414His) single nucleotide variant not provided [RCV002932445] Chr3:138162284 [GRCh38]
Chr3:137881126 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.242T>C (p.Ile81Thr) single nucleotide variant not provided [RCV003047409] Chr3:138173582 [GRCh38]
Chr3:137892424 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.714+13A>G single nucleotide variant not provided [RCV003049284] Chr3:138167068 [GRCh38]
Chr3:137885910 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.1552G>A (p.Glu518Lys) single nucleotide variant not provided [RCV003031912] Chr3:138161972 [GRCh38]
Chr3:137880814 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.432A>G (p.Ser144=) single nucleotide variant not provided [RCV003029922] Chr3:138170164 [GRCh38]
Chr3:137889006 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.1537C>G (p.Leu513Val) single nucleotide variant not provided [RCV002900137] Chr3:138161987 [GRCh38]
Chr3:137880829 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.389A>G (p.His130Arg) single nucleotide variant not provided [RCV003048828] Chr3:138171647 [GRCh38]
Chr3:137890489 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.832T>C (p.Tyr278His) single nucleotide variant not provided [RCV003065116] Chr3:138163458 [GRCh38]
Chr3:137882300 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.556A>T (p.Lys186Ter) single nucleotide variant not provided [RCV003031761] Chr3:138167239 [GRCh38]
Chr3:137886081 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.360C>T (p.Ile120=) single nucleotide variant not provided [RCV002895319] Chr3:138171676 [GRCh38]
Chr3:137890518 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.361G>A (p.Gly121Ser) single nucleotide variant not provided [RCV002746672] Chr3:138171675 [GRCh38]
Chr3:137890517 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.201T>C (p.Tyr67=) single nucleotide variant not provided [RCV002933888] Chr3:138173623 [GRCh38]
Chr3:137892465 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.1623C>T (p.Asp541=) single nucleotide variant not provided [RCV003046340]|not specified [RCV003491197] Chr3:138161901 [GRCh38]
Chr3:137880743 [GRCh37]
Chr3:3q22.3		 benign
NM_016216.4(DBR1):c.194A>G (p.Tyr65Cys) single nucleotide variant not provided [RCV002959148] Chr3:138174602 [GRCh38]
Chr3:137893444 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1352C>T (p.Ser451Leu) single nucleotide variant DBR1-related disorder [RCV003906332]|not provided [RCV002922908] Chr3:138162172 [GRCh38]
Chr3:137881014 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.1446G>A (p.Thr482=) single nucleotide variant not provided [RCV003086644] Chr3:138162078 [GRCh38]
Chr3:137880920 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.1302A>C (p.Glu434Asp) single nucleotide variant Inborn genetic diseases [RCV004973771]|not provided [RCV002966467] Chr3:138162222 [GRCh38]
Chr3:137881064 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.247G>A (p.Gly83Arg) single nucleotide variant not provided [RCV002792082] Chr3:138173577 [GRCh38]
Chr3:137892419 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1625_1627dup (p.Asp542_Ala543insAsp) duplication not provided [RCV002938886] Chr3:138161896..138161897 [GRCh38]
Chr3:137880738..137880739 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.237C>T (p.Leu79=) single nucleotide variant not provided [RCV002895511] Chr3:138173587 [GRCh38]
Chr3:137892429 [GRCh37]
Chr3:3q22.3		 benign
NM_016216.4(DBR1):c.1346C>T (p.Thr449Ile) single nucleotide variant not provided [RCV002599507] Chr3:138162178 [GRCh38]
Chr3:137881020 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.198-8T>G single nucleotide variant not provided [RCV002806465] Chr3:138173634 [GRCh38]
Chr3:137892476 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.876G>C (p.Thr292=) single nucleotide variant not provided [RCV003051263] Chr3:138163414 [GRCh38]
Chr3:137882256 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.875C>T (p.Thr292Met) single nucleotide variant not provided [RCV002605898] Chr3:138163415 [GRCh38]
Chr3:137882257 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1424T>C (p.Met475Thr) single nucleotide variant Inborn genetic diseases [RCV003274169]|not provided [RCV003066320] Chr3:138162100 [GRCh38]
Chr3:137880942 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.663T>C (p.Tyr221=) single nucleotide variant not provided [RCV002633192] Chr3:138167132 [GRCh38]
Chr3:137885974 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.73C>T (p.Arg25Trp) single nucleotide variant not provided [RCV002653347] Chr3:138174723 [GRCh38]
Chr3:137893565 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.227T>C (p.Val76Ala) single nucleotide variant Inborn genetic diseases [RCV002724978] Chr3:138173597 [GRCh38]
Chr3:137892439 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.426T>C (p.Tyr142=) single nucleotide variant not provided [RCV002606563] Chr3:138170170 [GRCh38]
Chr3:137889012 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.1278A>T (p.Pro426=) single nucleotide variant not provided [RCV003066105] Chr3:138162246 [GRCh38]
Chr3:137881088 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.1321G>A (p.Val441Ile) single nucleotide variant not provided [RCV002589980] Chr3:138162203 [GRCh38]
Chr3:137881045 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.750A>T (p.Lys250Asn) single nucleotide variant Inborn genetic diseases [RCV003280948] Chr3:138163823 [GRCh38]
Chr3:137882665 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.376A>G (p.Ile126Val) single nucleotide variant Inborn genetic diseases [RCV003205940] Chr3:138171660 [GRCh38]
Chr3:137890502 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.832T>G (p.Tyr278Asp) single nucleotide variant Inborn genetic diseases [RCV003175204] Chr3:138163458 [GRCh38]
Chr3:137882300 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1333A>C (p.Ser445Arg) single nucleotide variant Inborn genetic diseases [RCV003210415] Chr3:138162191 [GRCh38]
Chr3:137881033 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.779A>G (p.His260Arg) single nucleotide variant Inborn genetic diseases [RCV003201513] Chr3:138163794 [GRCh38]
Chr3:137882636 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1504G>A (p.Gly502Arg) single nucleotide variant Inborn genetic diseases [RCV004608840] Chr3:138162020 [GRCh38]
Chr3:137880862 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.200A>G (p.Tyr67Cys) single nucleotide variant Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 [RCV003989835]|Xerosis and growth failure with immune and pulmonary dysfunction syndrome [RCV003328500] Chr3:138173624 [GRCh38]
Chr3:137892466 [GRCh37]
Chr3:3q22.3		 pathogenic|uncertain significance
NM_016216.4(DBR1):c.456T>C (p.His152=) single nucleotide variant not provided [RCV003569519] Chr3:138170140 [GRCh38]
Chr3:137888982 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.-6G>A single nucleotide variant not provided [RCV003427421] Chr3:138174801 [GRCh38]
Chr3:137893643 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.979G>T (p.Val327Leu) single nucleotide variant DBR1-related disorder [RCV003406064] Chr3:138162545 [GRCh38]
Chr3:137881387 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.796-41C>A single nucleotide variant not specified [RCV003488857] Chr3:138163535 [GRCh38]
Chr3:137882377 [GRCh37]
Chr3:3q22.3		 benign
NM_016216.4(DBR1):c.799T>C (p.Leu267=) single nucleotide variant not provided [RCV003663564] Chr3:138163491 [GRCh38]
Chr3:137882333 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.*36T>C single nucleotide variant not specified [RCV003488856] Chr3:138161853 [GRCh38]
Chr3:137880695 [GRCh37]
Chr3:3q22.3		 benign
NM_016216.4(DBR1):c.207T>C (p.Ser69=) single nucleotide variant not provided [RCV003877156] Chr3:138173617 [GRCh38]
Chr3:137892459 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.941+13T>A single nucleotide variant not provided [RCV003714016] Chr3:138163336 [GRCh38]
Chr3:137882178 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.-107C>A single nucleotide variant not specified [RCV003489165] Chr3:138174902 [GRCh38]
Chr3:137893744 [GRCh37]
Chr3:3q22.3		 benign
NM_016216.4(DBR1):c.715-52T>C single nucleotide variant not specified [RCV003488858] Chr3:138163910 [GRCh38]
Chr3:137882752 [GRCh37]
Chr3:3q22.3		 benign
NM_016216.4(DBR1):c.1212T>C (p.Ser404=) single nucleotide variant not provided [RCV003690935] Chr3:138162312 [GRCh38]
Chr3:137881154 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.819C>T (p.Pro273=) single nucleotide variant not provided [RCV003547883] Chr3:138163471 [GRCh38]
Chr3:137882313 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.1401T>C (p.Asp467=) single nucleotide variant not provided [RCV003543855] Chr3:138162123 [GRCh38]
Chr3:137880965 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.323-9A>G single nucleotide variant not provided [RCV003697770] Chr3:138171722 [GRCh38]
Chr3:137890564 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.942-5T>G single nucleotide variant not provided [RCV003664338] Chr3:138162587 [GRCh38]
Chr3:137881429 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.935A>G (p.His312Arg) single nucleotide variant not provided [RCV003659235] Chr3:138163355 [GRCh38]
Chr3:137882197 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.197+14C>G single nucleotide variant not provided [RCV003664775] Chr3:138174585 [GRCh38]
Chr3:137893427 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.1023T>C (p.Phe341=) single nucleotide variant not provided [RCV003549460] Chr3:138162501 [GRCh38]
Chr3:137881343 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.999T>C (p.His333=) single nucleotide variant not provided [RCV003852365] Chr3:138162525 [GRCh38]
Chr3:137881367 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.197+11G>T single nucleotide variant not provided [RCV003670501] Chr3:138174588 [GRCh38]
Chr3:137893430 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.941+8del deletion not provided [RCV003665844] Chr3:138163341 [GRCh38]
Chr3:137882183 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.323-20T>C single nucleotide variant not provided [RCV003703546] Chr3:138171733 [GRCh38]
Chr3:137890575 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.1470G>A (p.Glu490=) single nucleotide variant not provided [RCV003725454] Chr3:138162054 [GRCh38]
Chr3:137880896 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.1353G>A (p.Ser451=) single nucleotide variant not provided [RCV003725840] Chr3:138162171 [GRCh38]
Chr3:137881013 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.906G>T (p.Leu302=) single nucleotide variant not provided [RCV003702881] Chr3:138163384 [GRCh38]
Chr3:137882226 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.474C>A (p.Val158=) single nucleotide variant not provided [RCV003725982] Chr3:138170122 [GRCh38]
Chr3:137888964 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.198-1G>C single nucleotide variant not provided [RCV003701805] Chr3:138173627 [GRCh38]
Chr3:137892469 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.150C>T (p.Arg50=) single nucleotide variant not provided [RCV003665918] Chr3:138174646 [GRCh38]
Chr3:137893488 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.381T>C (p.Phe127=) single nucleotide variant DBR1-related disorder [RCV003892225]|not provided [RCV003724983] Chr3:138171655 [GRCh38]
Chr3:137890497 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.303A>G (p.Ala101=) single nucleotide variant not provided [RCV003705323] Chr3:138173521 [GRCh38]
Chr3:137892363 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.1549C>T (p.His517Tyr) single nucleotide variant not provided [RCV003676561] Chr3:138161975 [GRCh38]
Chr3:137880817 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.696C>T (p.Ala232=) single nucleotide variant not provided [RCV003705200] Chr3:138167099 [GRCh38]
Chr3:137885941 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.234G>A (p.Thr78=) single nucleotide variant not provided [RCV003674442] Chr3:138173590 [GRCh38]
Chr3:137892432 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.155T>C (p.Met52Thr) single nucleotide variant not provided [RCV003734233] Chr3:138174641 [GRCh38]
Chr3:137893483 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.279G>A (p.Glu93=) single nucleotide variant not provided [RCV003684399] Chr3:138173545 [GRCh38]
Chr3:137892387 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.795+8G>T single nucleotide variant not provided [RCV003722468] Chr3:138163770 [GRCh38]
Chr3:137882612 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.378C>T (p.Ile126=) single nucleotide variant not provided [RCV003679397] Chr3:138171658 [GRCh38]
Chr3:137890500 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.795+10G>C single nucleotide variant not provided [RCV003677005] Chr3:138163768 [GRCh38]
Chr3:137882610 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.197+10C>T single nucleotide variant not provided [RCV003566632] Chr3:138174589 [GRCh38]
Chr3:137893431 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.1110T>C (p.Phe370=) single nucleotide variant not provided [RCV003568267] Chr3:138162414 [GRCh38]
Chr3:137881256 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.148C>G (p.Arg50Gly) single nucleotide variant Inborn genetic diseases [RCV004373038] Chr3:138174648 [GRCh38]
Chr3:137893490 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.170A>C (p.Lys57Thr) single nucleotide variant Inborn genetic diseases [RCV004373040] Chr3:138174626 [GRCh38]
Chr3:137893468 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.794A>G (p.Gln265Arg) single nucleotide variant Inborn genetic diseases [RCV004373041] Chr3:138163779 [GRCh38]
Chr3:137882621 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.80G>A (p.Gly27Asp) single nucleotide variant Inborn genetic diseases [RCV004373042] Chr3:138174716 [GRCh38]
Chr3:137893558 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1267T>C (p.Ser423Pro) single nucleotide variant Inborn genetic diseases [RCV004373037] Chr3:138162257 [GRCh38]
Chr3:137881099 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.164C>T (p.Pro55Leu) single nucleotide variant Inborn genetic diseases [RCV004373039] Chr3:138174632 [GRCh38]
Chr3:137893474 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.955G>A (p.Ala319Thr) single nucleotide variant Inborn genetic diseases [RCV004373043] Chr3:138162569 [GRCh38]
Chr3:137881411 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.971T>A (p.Met324Lys) single nucleotide variant Inborn genetic diseases [RCV004373044]|not provided [RCV005103377] Chr3:138162553 [GRCh38]
Chr3:137881395 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.464A>C (p.Asn155Thr) single nucleotide variant Inborn genetic diseases [RCV004608842] Chr3:138170132 [GRCh38]
Chr3:137888974 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.589dup (p.Arg197fs) duplication Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 [RCV004594929] Chr3:138167205..138167206 [GRCh38]
Chr3:137886047..137886048 [GRCh37]
Chr3:3q22.3		 pathogenic
NM_016216.4(DBR1):c.746C>T (p.Thr249Ile) single nucleotide variant Inborn genetic diseases [RCV004611276] Chr3:138163827 [GRCh38]
Chr3:137882669 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.233C>T (p.Thr78Met) single nucleotide variant Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 [RCV004594930] Chr3:138173591 [GRCh38]
Chr3:137892433 [GRCh37]
Chr3:3q22.3		 likely pathogenic
NM_016216.4(DBR1):c.1582A>G (p.Arg528Gly) single nucleotide variant Inborn genetic diseases [RCV004981598] Chr3:138161942 [GRCh38]
Chr3:137880784 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.196A>G (p.Arg66Gly) single nucleotide variant Inborn genetic diseases [RCV004981597] Chr3:138174600 [GRCh38]
Chr3:137893442 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.38T>C (p.Leu13Pro) single nucleotide variant Inborn genetic diseases [RCV004981600] Chr3:138174758 [GRCh38]
Chr3:137893600 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.901C>T (p.Arg301Cys) single nucleotide variant Inborn genetic diseases [RCV004981595] Chr3:138163389 [GRCh38]
Chr3:137882231 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.592C>A (p.Gln198Lys) single nucleotide variant Inborn genetic diseases [RCV004981596] Chr3:138167203 [GRCh38]
Chr3:137886045 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1243A>T (p.Asn415Tyr) single nucleotide variant Inborn genetic diseases [RCV004981599] Chr3:138162281 [GRCh38]
Chr3:137881123 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.489+19A>G single nucleotide variant not provided [RCV005195669] Chr3:138170088 [GRCh38]
Chr3:137888930 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.322+17G>A single nucleotide variant not provided [RCV005170384] Chr3:138173485 [GRCh38]
Chr3:137892327 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.103C>T (p.Leu35=) single nucleotide variant not provided [RCV005162108] Chr3:138174693 [GRCh38]
Chr3:137893535 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.942-13T>C single nucleotide variant not provided [RCV005121391] Chr3:138162595 [GRCh38]
Chr3:137881437 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.390T>C (p.His130=) single nucleotide variant not provided [RCV005155231] Chr3:138171646 [GRCh38]
Chr3:137890488 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.783A>G (p.Arg261=) single nucleotide variant not provided [RCV005138598] Chr3:138163790 [GRCh38]
Chr3:137882632 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.1392T>C (p.Ser464=) single nucleotide variant not provided [RCV005080759] Chr3:138162132 [GRCh38]
Chr3:137880974 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.930C>G (p.Gly310=) single nucleotide variant not provided [RCV005193799] Chr3:138163360 [GRCh38]
Chr3:137882202 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.1037C>G (p.Ala346Gly) single nucleotide variant not provided [RCV005160345] Chr3:138162487 [GRCh38]
Chr3:137881329 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.876G>A (p.Thr292=) single nucleotide variant not provided [RCV005109329] Chr3:138163414 [GRCh38]
Chr3:137882256 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.1206G>A (p.Val402=) single nucleotide variant not provided [RCV005149362] Chr3:138162318 [GRCh38]
Chr3:137881160 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.1414C>A (p.Pro472Thr) single nucleotide variant not provided [RCV005182450] Chr3:138162110 [GRCh38]
Chr3:137880952 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1302A>G (p.Glu434=) single nucleotide variant not provided [RCV005149518] Chr3:138162222 [GRCh38]
Chr3:137881064 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.51T>C (p.Tyr17=) single nucleotide variant not provided [RCV005180307] Chr3:138174745 [GRCh38]
Chr3:137893587 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.93C>T (p.Val31=) single nucleotide variant not provided [RCV005177704] Chr3:138174703 [GRCh38]
Chr3:137893545 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.813T>C (p.His271=) single nucleotide variant not provided [RCV005152491] Chr3:138163477 [GRCh38]
Chr3:137882319 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.60G>A (p.Leu20=) single nucleotide variant not provided [RCV005128191] Chr3:138174736 [GRCh38]
Chr3:137893578 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.198-12C>T single nucleotide variant not provided [RCV005149253] Chr3:138173638 [GRCh38]
Chr3:137892480 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.1213A>C (p.Asn405His) single nucleotide variant not provided [RCV005205404] Chr3:138162311 [GRCh38]
Chr3:137881153 [GRCh37]
Chr3:3q22.3		 uncertain significance
NC_000003.11:g.(?_137880731)_(137893637_?)dup duplication not provided [RCV003119721] Chr3:137880731..137893637 [GRCh37]
Chr3:3q22.3		 uncertain significance
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31		 pathogenic
NM_016216.4(DBR1):c.780T>C (p.His260=) single nucleotide variant not provided [RCV002993543] Chr3:138163793 [GRCh38]
Chr3:137882635 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.1282G>C (p.Glu428Gln) single nucleotide variant not provided [RCV002852785] Chr3:138162242 [GRCh38]
Chr3:137881084 [GRCh37]
Chr3:3q22.3		 benign
NM_016216.4(DBR1):c.388C>T (p.His130Tyr) single nucleotide variant not provided [RCV003046327] Chr3:138171648 [GRCh38]
Chr3:137890490 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.467T>C (p.Ile156Thr) single nucleotide variant Inborn genetic diseases [RCV003359270] Chr3:138170129 [GRCh38]
Chr3:137888971 [GRCh37]
Chr3:3q22.3		 uncertain significance
NM_016216.4(DBR1):c.1278A>G (p.Pro426=) single nucleotide variant not provided [RCV005170393] Chr3:138162246 [GRCh38]
Chr3:137881088 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.198-14C>G single nucleotide variant not provided [RCV003663807] Chr3:138173640 [GRCh38]
Chr3:137892482 [GRCh37]
Chr3:3q22.3		 likely benign
NM_016216.4(DBR1):c.1112G>T (p.Cys371Phe) single nucleotide variant not provided [RCV005178582] Chr3:138162412 [GRCh38]
Chr3:137881254 [GRCh37]
Chr3:3q22.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1125
Count of miRNA genes:584
Interacting mature miRNAs:635
Transcripts:ENST00000260803, ENST00000460271, ENST00000463982, ENST00000477557, ENST00000505015
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300026BP36_HBlood pressure QTL 36 (human)4.04Blood pressurehypertension susceptibility3135720453161720453Human
1298415BP24_HBlood pressure QTL 24 (human)2.9Blood pressurehypertension susceptibility3135720453161720453Human
597090152GWAS1186226_Hmean reticulocyte volume QTL GWAS1186226 (human)2e-09reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)3138162242138162243Human

Markers in Region
DBR1_9677  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373137,880,037 - 137,880,805UniSTSGRCh37
Build 363139,362,727 - 139,363,495RGDNCBI36
Celera3136,304,805 - 136,305,573RGD
HuRef3135,255,095 - 135,255,863UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2247 4953 1724 2350 5 623 1950 465 2269 7294 6463 53 3718 851 1739 1615 172 1

Sequence


Ensembl Acc Id: ENST00000260803   ⟹   ENSP00000260803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3138,160,988 - 138,174,921 (-)Ensembl
Ensembl Acc Id: ENST00000460271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3138,161,054 - 138,164,868 (-)Ensembl
Ensembl Acc Id: ENST00000463982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3138,169,677 - 138,174,941 (-)Ensembl
Ensembl Acc Id: ENST00000477557   ⟹   ENSP00000417262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3138,163,349 - 138,174,859 (-)Ensembl
Ensembl Acc Id: ENST00000698921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3138,160,988 - 138,173,989 (-)Ensembl
Ensembl Acc Id: ENST00000698922   ⟹   ENSP00000514033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3138,161,012 - 138,174,917 (-)Ensembl
Ensembl Acc Id: ENST00000698923   ⟹   ENSP00000514034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3138,161,028 - 138,174,937 (-)Ensembl
Ensembl Acc Id: ENST00000698924   ⟹   ENSP00000514035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3138,161,033 - 138,174,949 (-)Ensembl
Ensembl Acc Id: ENST00000698925   ⟹   ENSP00000514036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3138,161,377 - 138,174,919 (-)Ensembl
Ensembl Acc Id: ENST00000698926   ⟹   ENSP00000514037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3138,161,997 - 138,167,103 (-)Ensembl
RefSeq Acc Id: NM_016216   ⟹   NP_057300
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383138,160,988 - 138,174,921 (-)NCBI
GRCh373137,879,830 - 137,893,791 (-)RGD
Build 363139,362,542 - 139,376,463 (-)NCBI Archive
Celera3136,304,598 - 136,318,559 (-)RGD
HuRef3135,254,888 - 135,268,849 (-)ENTREZGENE
CHM1_13137,843,634 - 137,857,589 (-)NCBI
T2T-CHM13v2.03140,901,580 - 140,915,511 (-)NCBI
Sequence:
RefSeq Acc Id: NP_057300   ⟸   NM_016216
- UniProtKB: Q96GH0 (UniProtKB/Swiss-Prot),   Q9NXQ6 (UniProtKB/Swiss-Prot),   Q9UK59 (UniProtKB/Swiss-Prot),   A0A8V8TNX0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000417262   ⟸   ENST00000477557
Ensembl Acc Id: ENSP00000260803   ⟸   ENST00000260803
Ensembl Acc Id: ENSP00000514036   ⟸   ENST00000698925
Ensembl Acc Id: ENSP00000514037   ⟸   ENST00000698926
Ensembl Acc Id: ENSP00000514033   ⟸   ENST00000698922
Ensembl Acc Id: ENSP00000514035   ⟸   ENST00000698924
Ensembl Acc Id: ENSP00000514034   ⟸   ENST00000698923
Protein Domains
Calcineurin-like phosphoesterase   Lariat debranching enzyme C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UK59-F1-model_v2 AlphaFold Q9UK59 1-544 view protein structure

Promoters
RGD ID:6865798
Promoter ID:EPDNEW_H6064
Type:initiation region
Name:DBR1_1
Description:debranching RNA lariats 1
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
GRCh383138,174,921 - 138,174,981EPDNEW
RGD ID:6800821
Promoter ID:HG_KWN:46307
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_016216,   UC003ERU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363139,376,091 - 139,376,591 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15594 AgrOrtholog
COSMIC DBR1 COSMIC
Ensembl Genes ENSG00000138231 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000260803 ENTREZGENE
  ENST00000260803.9 UniProtKB/Swiss-Prot
  ENST00000477557.3 UniProtKB/TrEMBL
  ENST00000698922.1 UniProtKB/TrEMBL
  ENST00000698923.1 UniProtKB/TrEMBL
  ENST00000698924.1 UniProtKB/TrEMBL
  ENST00000698925.1 UniProtKB/TrEMBL
  ENST00000698926.1 UniProtKB/TrEMBL
Gene3D-CATH 3.60.21.10 UniProtKB/TrEMBL
GTEx ENSG00000138231 GTEx
HGNC ID HGNC:15594 ENTREZGENE
Human Proteome Map DBR1 Human Proteome Map
InterPro Calcineurin-like_PHP_ApaH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DBR1_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dbr1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Metallo-depent_PP-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51163 UniProtKB/Swiss-Prot
NCBI Gene 51163 ENTREZGENE
OMIM 607024 OMIM
PANTHER LARIAT DEBRANCHING ENZYME UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA LARIAT DEBRANCHING ENZYME UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DBR1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Metallophos UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27166 PharmGKB
SMART DBR1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8V8TMF7_HUMAN UniProtKB/TrEMBL
  A0A8V8TMH0_HUMAN UniProtKB/TrEMBL
  A0A8V8TMX5_HUMAN UniProtKB/TrEMBL
  A0A8V8TNX0 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TP85_HUMAN UniProtKB/TrEMBL
  DBR1_HUMAN UniProtKB/Swiss-Prot
  F8WAY1_HUMAN UniProtKB/TrEMBL
  Q96GH0 ENTREZGENE
  Q9NXQ6 ENTREZGENE
  Q9UK59 ENTREZGENE
UniProt Secondary Q96GH0 UniProtKB/Swiss-Prot
  Q9NXQ6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-08-20 DBR1  debranching RNA lariats 1    debranching enzyme homolog 1 (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED