DBN1 (drebrin 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: DBN1 (drebrin 1) Homo sapiens
Analyze
Symbol: DBN1
Name: drebrin 1
RGD ID: 732725
HGNC Page HGNC:2695
Description: Enables cadherin binding activity. Involved in cytoplasmic sequestering of protein. Located in cytoplasm; cytoskeleton; and dendrite. Biomarker of Alzheimer's disease; Down syndrome; and cognitive disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: D0S117E; developmentally-regulated brain protein; DKFZp434D064; drebrin; drebrin A; drebrin E; drebrin E2; drebrin-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385177,456,610 - 177,473,634 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5177,456,608 - 177,474,401 (-)EnsemblGRCh38hg38GRCh38
GRCh375176,883,611 - 176,900,635 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365176,816,220 - 176,833,271 (-)NCBINCBI36Build 36hg18NCBI36
Build 345176,816,219 - 176,832,805NCBI
Celera5171,601,010 - 171,618,030 (+)NCBICelera
Cytogenetic Map5q35.3NCBI
HuRef5171,803,862 - 171,820,946 (-)NCBIHuRef
CHM1_15176,316,642 - 176,333,751 (-)NCBICHM1_1
T2T-CHM13v2.05177,999,656 - 178,023,769 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
actinomycin D  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
amiodarone  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
beta-lapachone  (EXP)
beta-naphthoflavone  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bortezomib  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP,ISO)
clotrimazole  (ISO)
cobalt dichloride  (EXP)
cocaine  (ISO)
copper(II) sulfate  (EXP)
coumarin  (EXP)
coumestrol  (EXP)
curcumin  (ISO)
cyclosporin A  (EXP)
cytarabine  (EXP)
D-glucose  (ISO)
diarsenic trioxide  (EXP)
diazinon  (EXP)
diethylstilbestrol  (EXP)
dioxygen  (ISO)
diuron  (ISO)
endosulfan  (ISO)
Enterolactone  (EXP)
enzyme inhibitor  (EXP)
ethanol  (EXP,ISO)
etoposide  (EXP)
flavonoids  (ISO)
FR900359  (EXP)
furan  (ISO)
gallic acid  (EXP)
gentamycin  (ISO)
glucose  (ISO)
glycidol  (ISO)
hexadecanoic acid  (EXP)
hydrogen peroxide  (ISO)
indole-3-methanol  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
lead diacetate  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (EXP)
maneb  (ISO)
methapyrilene  (EXP)
methimazole  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
Nutlin-3  (EXP)
oxaliplatin  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
PCB138  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenethyl caffeate  (ISO)
phenobarbital  (EXP)
pirinixic acid  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP,ISO)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
sarin  (EXP)
SB 415286  (ISO)
sevoflurane  (ISO)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
temozolomide  (EXP)
thimerosal  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
actin filament organization  (IEA,ISO,ISS)
cell communication by chemical coupling  (IEA,ISO)
cell communication by electrical coupling  (IEA,ISO)
cell differentiation  (IEA)
cellular response to transforming growth factor beta stimulus  (ISO)
cellular response to tumor necrosis factor  (ISO)
cellular response to X-ray  (ISO)
cytoplasmic sequestering of protein  (IBA,IDA)
generation of neurons  (IEA)
in utero embryonic development  (IEA,ISO)
lung alveolus development  (ISO)
maintenance of protein location in cell  (IEA,ISO)
modulation of inhibitory postsynaptic potential  (ISO)
negative regulation of actin filament bundle assembly  (ISO)
negative regulation of locomotion involved in locomotory behavior  (ISO)
negative regulation of muscle filament sliding  (ISO)
nervous system development  (IEA,ISO)
neural precursor cell proliferation  (IEA)
positive regulation of axon extension  (ISO)
positive regulation of cell-substrate adhesion  (ISO)
positive regulation of dendritic spine morphogenesis  (IEA,ISO,ISS)
positive regulation of excitatory postsynaptic potential  (ISO)
positive regulation of neuron projection development  (ISO)
positive regulation of receptor localization to synapse  (IEA,ISS)
positive regulation of substrate adhesion-dependent cell spreading  (ISO)
positive regulation of synaptic plasticity  (IEA,ISS)
postsynaptic actin cytoskeleton organization  (ISO)
prepulse inhibition  (ISO)
regulation of actin filament polymerization  (ISO)
regulation of dendrite development  (NAS)
regulation of filopodium assembly  (ISO)
regulation of neuronal synaptic plasticity  (NAS)
regulation of postsynaptic density protein 95 clustering  (ISO)
response to activity  (ISO)
response to xenobiotic stimulus  (ISO)
spermatogenesis  (ISO)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Chemical and morphological alterations of spines within the hippocampus and entorhinal cortex precede the onset of Alzheimer's disease pathology in double knock-in mice. Aoki C, etal., J Comp Neurol. 2007 Dec 1;505(4):352-62.
2. Differential expression of synaptic proteins in the frontal and temporal cortex of elderly subjects with mild cognitive impairment. Counts SE, etal., J Neuropathol Exp Neurol. 2006 Jun;65(6):592-601.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Disappearance of actin-binding protein, drebrin, from hippocampal synapses in Alzheimer's disease. Harigaya Y, etal., J Neurosci Res. 1996 Jan 1;43(1):87-92.
5. Decreased drebrin mRNA expression in Alzheimer disease: correlation with tau pathology. Julien C, etal., J Neurosci Res. 2008 Aug 1;86(10):2292-302. doi: 10.1002/jnr.21667.
6. Drebrin expression is increased in spinal motoneurons of rats after axotomy. Kobayashi S, etal., Neurosci Lett. 2001 Oct 5;311(3):165-8.
7. Genetic disruption of the alternative splicing of drebrin gene impairs context-dependent fear learning in adulthood. Kojima N, etal., Neuroscience. 2010 Jan 13;165(1):138-50. doi: 10.1016/j.neuroscience.2009.10.016. Epub 2009 Oct 24.
8. Drebrin immunoreactivity in the striatum of a rat model of levodopa-induced dyskinesia. Nishijima H, etal., Neuropathology. 2013 Aug;33(4):391-6. doi: 10.1111/neup.12009. Epub 2012 Dec 13.
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. [The changes of central nervous synapses after transient cerebral ischemia]. Saruki N, Masui. 1995 Dec;44(12):1639-47.
12. Drebrin A expression is altered after pilocarpine-induced seizures: time course of changes is consistent for a role in the integrity and stability of dendritic spines of hippocampal granule cells. Sbai O, etal., Hippocampus. 2012 Mar;22(3):477-93. doi: 10.1002/hipo.20914. Epub 2011 Jan 14.
13. Drebrin, a dendritic spine protein, is manifold decreased in brains of patients with Alzheimer's disease and Down syndrome. Shim KS and Lubec G, Neurosci Lett. 2002 May 24;324(3):209-12.
14. Hippocampal dysregulation of synaptic plasticity-associated proteins with age-related cognitive decline. VanGuilder HD, etal., Neurobiol Dis. 2011 Jul;43(1):201-12. doi: 10.1016/j.nbd.2011.03.012. Epub 2011 Apr 1.
Additional References at PubMed
PMID:7608104   PMID:8125298   PMID:8216329   PMID:9473484   PMID:10585290   PMID:10604653   PMID:11076863   PMID:11230166   PMID:11256614   PMID:12477932   PMID:12577067   PMID:12665801  
PMID:12676529   PMID:12761245   PMID:14506234   PMID:14702039   PMID:15084279   PMID:15302935   PMID:15345747   PMID:15489334   PMID:15489336   PMID:16094384   PMID:16169070   PMID:16300736  
PMID:16344560   PMID:16381901   PMID:16780834   PMID:17081983   PMID:17251419   PMID:17620599   PMID:18806788   PMID:19725029   PMID:19738201   PMID:20183806   PMID:20215400   PMID:20348541  
PMID:20473970   PMID:20876399   PMID:21044950   PMID:21080425   PMID:21124928   PMID:21182205   PMID:21497902   PMID:21873635   PMID:21900206   PMID:22199357   PMID:22266860   PMID:22268729  
PMID:22275434   PMID:22310934   PMID:22658674   PMID:22703881   PMID:22939629   PMID:23084401   PMID:23166591   PMID:23201135   PMID:23398456   PMID:23569248   PMID:23750010   PMID:23926103  
PMID:23940795   PMID:23979707   PMID:23979715   PMID:24255178   PMID:24327345   PMID:24346822   PMID:24399445   PMID:24457600   PMID:24610677   PMID:25144556   PMID:25468996   PMID:25496916  
PMID:25659891   PMID:25814554   PMID:25839164   PMID:25921289   PMID:25925205   PMID:25963833   PMID:26123582   PMID:26209609   PMID:26217791   PMID:26496610   PMID:26527279   PMID:26561776  
PMID:26618866   PMID:26972000   PMID:27013612   PMID:27248496   PMID:27377895   PMID:27558965   PMID:28302793   PMID:28330616   PMID:28378594   PMID:28416666   PMID:28514442   PMID:28865011  
PMID:28865014   PMID:28865022   PMID:28865023   PMID:28865024   PMID:28865025   PMID:28865026   PMID:28865028   PMID:28865030   PMID:28865031   PMID:28865033   PMID:28966017   PMID:29053956  
PMID:29128334   PMID:29478914   PMID:29791485   PMID:29802200   PMID:29845934   PMID:29961565   PMID:30021884   PMID:30026490   PMID:30309841   PMID:30344098   PMID:30413534   PMID:30459231  
PMID:30467237   PMID:30554943   PMID:30880752   PMID:30884312   PMID:30890647   PMID:30948266   PMID:30979931   PMID:31010829   PMID:31300519   PMID:31324722   PMID:31353912   PMID:31586073  
PMID:31796584   PMID:31871319   PMID:31980649   PMID:32015686   PMID:32041737   PMID:32120844   PMID:32460013   PMID:32662890   PMID:32665550   PMID:32707033   PMID:32780723   PMID:32994395  
PMID:33194618   PMID:33453340   PMID:33644029   PMID:33729478   PMID:33739391   PMID:33762435   PMID:33777788   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34244482   PMID:34349018  
PMID:34537242   PMID:34709727   PMID:34728620   PMID:34795231   PMID:34901782   PMID:35013218   PMID:35013556   PMID:35063084   PMID:35140242   PMID:35271311   PMID:35446349   PMID:35516420  
PMID:35568845   PMID:35575683   PMID:35676659   PMID:35776542   PMID:35833506   PMID:35850772   PMID:35864588   PMID:35916866   PMID:35941108   PMID:35944360   PMID:35973989   PMID:36042349  
PMID:36057605   PMID:36114006   PMID:36155064   PMID:36168627   PMID:36215168   PMID:36217030   PMID:36232890   PMID:36243803   PMID:36273042   PMID:36373674   PMID:36380368   PMID:36490346  
PMID:36526897   PMID:36574265   PMID:36652389   PMID:36690273   PMID:36898370   PMID:36964488   PMID:37052853   PMID:37071682   PMID:37132043   PMID:37314216   PMID:37616343   PMID:37774976  
PMID:37827155   PMID:38113892   PMID:38280479   PMID:38334954   PMID:38697112  


Genomics

Comparative Map Data
DBN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385177,456,610 - 177,473,634 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5177,456,608 - 177,474,401 (-)EnsemblGRCh38hg38GRCh38
GRCh375176,883,611 - 176,900,635 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365176,816,220 - 176,833,271 (-)NCBINCBI36Build 36hg18NCBI36
Build 345176,816,219 - 176,832,805NCBI
Celera5171,601,010 - 171,618,030 (+)NCBICelera
Cytogenetic Map5q35.3NCBI
HuRef5171,803,862 - 171,820,946 (-)NCBIHuRef
CHM1_15176,316,642 - 176,333,751 (-)NCBICHM1_1
T2T-CHM13v2.05177,999,656 - 178,023,769 (-)NCBIT2T-CHM13v2.0
Dbn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391355,621,241 - 55,635,874 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1355,621,242 - 55,635,924 (-)EnsemblGRCm39 Ensembl
GRCm381355,473,428 - 55,488,126 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1355,473,429 - 55,488,111 (-)EnsemblGRCm38mm10GRCm38
MGSCv371355,574,789 - 55,589,437 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361355,483,409 - 55,497,790 (-)NCBIMGSCv36mm8
Celera1356,527,471 - 56,542,117 (-)NCBICelera
Cytogenetic Map13B1NCBI
cM Map1330.06NCBI
Dbn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8179,155,729 - 9,170,121 (+)NCBIGRCr8
mRatBN7.2179,150,608 - 9,164,982 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl179,150,659 - 9,164,984 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx179,166,818 - 9,180,807 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01710,696,845 - 10,710,841 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0179,163,206 - 9,177,195 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0179,679,511 - 9,693,878 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl179,679,628 - 9,693,820 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01711,788,527 - 11,802,863 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41715,194,687 - 15,208,660 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11715,194,686 - 15,208,660 (+)NCBI
Celera179,229,222 - 9,243,194 (+)NCBICelera
Cytogenetic Map17p14NCBI
Dbn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540829,696,266 - 29,705,416 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540829,695,442 - 29,705,417 (-)NCBIChiLan1.0ChiLan1.0
DBN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24172,540,928 - 172,557,636 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15170,680,775 - 170,697,165 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05172,758,316 - 172,774,974 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15179,820,791 - 179,833,546 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5179,820,791 - 179,836,872 (-)Ensemblpanpan1.1panPan2
DBN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1435,899,969 - 35,913,015 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl435,889,392 - 35,912,507 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha435,866,175 - 35,880,615 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0436,265,157 - 36,279,633 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl436,240,908 - 36,279,633 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1436,090,417 - 36,104,899 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0436,276,383 - 36,290,861 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0436,785,850 - 36,800,327 (+)NCBIUU_Cfam_GSD_1.0
Dbn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213122,710,677 - 122,722,558 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365971,735,380 - 1,747,569 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365971,735,589 - 1,751,628 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DBN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl280,479,460 - 80,495,796 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1280,480,603 - 80,495,797 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
DBN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12379,468,010 - 79,484,603 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2379,467,647 - 79,484,592 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607510,659,367 - 10,676,337 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dbn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473312,616,423 - 12,632,133 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473312,616,537 - 12,631,967 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DBN1
52 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1 copy number loss See cases [RCV000050645] Chr5:176132340..177586960 [GRCh38]
Chr5:175559343..177013961 [GRCh37]
Chr5:175491949..176946567 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3		 pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865] Chr5:160029980..181269805 [GRCh38]
Chr5:159456987..180696806 [GRCh37]
Chr5:159389565..180629412 [NCBI36]
Chr5:5q33.3-35.3		 pathogenic
GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3 copy number gain See cases [RCV000051866] Chr5:168689326..181269946 [GRCh38]
Chr5:168116331..180696947 [GRCh37]
Chr5:168048909..180629553 [NCBI36]
Chr5:5q34-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3 copy number gain See cases [RCV000051867] Chr5:175851047..178365049 [GRCh38]
Chr5:175278050..177792050 [GRCh37]
Chr5:175210656..177724656 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3 copy number gain See cases [RCV000051868] Chr5:175889986..180793986 [GRCh38]
Chr5:175316989..180220986 [GRCh37]
Chr5:175249595..180153592 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175007241-179089812)x1 copy number loss See cases [RCV000052151] Chr5:175007241..179089812 [GRCh38]
Chr5:174434244..178516813 [GRCh37]
Chr5:174366850..178449419 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1 copy number loss See cases [RCV000053127] Chr5:176043476..177995759 [GRCh38]
Chr5:175470479..177422760 [GRCh37]
Chr5:175403085..177355366 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1 copy number loss See cases [RCV000053128] Chr5:176115257..177646633 [GRCh38]
Chr5:175542260..177073634 [GRCh37]
Chr5:175474866..177006240 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1 copy number loss See cases [RCV000053129] Chr5:176152073..177986213 [GRCh38]
Chr5:175579076..177413214 [GRCh37]
Chr5:175511682..177345820 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1 copy number loss See cases [RCV000053131] Chr5:176152073..177646633 [GRCh38]
Chr5:175579076..177073634 [GRCh37]
Chr5:175511682..177006240 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3 copy number gain See cases [RCV000053481] Chr5:176149599..177716401 [GRCh38]
Chr5:175576602..177143402 [GRCh37]
Chr5:175509208..177076008 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic|uncertain significance
NM_004395.3(DBN1):c.1939G>A (p.Gly647Ser) single nucleotide variant Malignant melanoma [RCV000061219] Chr5:177457444 [GRCh38]
Chr5:176884445 [GRCh37]
Chr5:176817051 [NCBI36]
Chr5:5q35.3		 not provided
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 copy number gain See cases [RCV000133847] Chr5:156825512..181269805 [GRCh38]
Chr5:156252523..180696806 [GRCh37]
Chr5:156185101..180629412 [NCBI36]
Chr5:5q33.3-35.3		 pathogenic
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 copy number gain See cases [RCV000135546] Chr5:164386701..181269805 [GRCh38]
Chr5:163813707..180696806 [GRCh37]
Chr5:163746285..180629412 [NCBI36]
Chr5:5q34-35.3		 pathogenic
GRCh38/hg38 5q35.3(chr5:177261458-177651722)x3 copy number gain See cases [RCV000138817] Chr5:177261458..177651722 [GRCh38]
Chr5:176688459..177078723 [GRCh37]
Chr5:176621065..177011329 [NCBI36]
Chr5:5q35.3		 likely benign|uncertain significance
GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3 copy number gain See cases [RCV000141249] Chr5:169334755..181285301 [GRCh38]
Chr5:168761759..180712302 [GRCh37]
Chr5:168694337..180644908 [NCBI36]
Chr5:5q35.1-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1 copy number loss See cases [RCV000141987] Chr5:175536771..181292788 [GRCh38]
Chr5:174963774..180719789 [GRCh37]
Chr5:174896380..180652395 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1 copy number loss See cases [RCV000142365] Chr5:175989092..178009412 [GRCh38]
Chr5:175416095..177436413 [GRCh37]
Chr5:175348701..177369019 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1 copy number loss See cases [RCV000142510] Chr5:176132340..177995759 [GRCh38]
Chr5:175559343..177422760 [GRCh37]
Chr5:175491949..177355366 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1 copy number loss See cases [RCV000142047] Chr5:176291838..178662699 [GRCh38]
Chr5:175718841..178089700 [GRCh37]
Chr5:175651447..178022306 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176517339-177709289)x1 copy number loss See cases [RCV000142538] Chr5:176517339..177709289 [GRCh38]
Chr5:175944340..177136290 [GRCh37]
Chr5:175876946..177068896 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1 copy number loss See cases [RCV000142648] Chr5:176700128..181269805 [GRCh38]
Chr5:176127129..180696806 [GRCh37]
Chr5:176059735..180629412 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1 copy number loss See cases [RCV000143463] Chr5:176143674..178009412 [GRCh38]
Chr5:175570677..177436413 [GRCh37]
Chr5:175503283..177369019 [NCBI36]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1 copy number loss See cases [RCV000167565] Chr5:174397487..180686444 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3		 likely benign
Single allele duplication not provided [RCV000768450] Chr5:175843728..180703728 [GRCh37]
Chr5:5q35.2-35.3		 likely pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176274007-180719789)x1 copy number loss See cases [RCV000447018] Chr5:176274007..180719789 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175722788-177423091)x3 copy number gain See cases [RCV000445774] Chr5:175722788..177423091 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176505173-178230923)x1 copy number loss See cases [RCV000445817] Chr5:176505173..178230923 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174427052-180719789)x1 copy number loss See cases [RCV000448611] Chr5:174427052..180719789 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175601473-180100378)x1 copy number loss See cases [RCV000448793] Chr5:175601473..180100378 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3		 pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:171396359-180719789)x3 copy number gain See cases [RCV000448458] Chr5:171396359..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3 copy number gain See cases [RCV000512068] Chr5:172031248..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175438045-177392885)x1 copy number loss See cases [RCV000511974] Chr5:175438045..177392885 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3 copy number gain See cases [RCV000511393] Chr5:175570677..177439550 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1 copy number loss See cases [RCV000510785] Chr5:175570677..180719789 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_001363541.2(DBN1):c.703C>A (p.His235Asn) single nucleotide variant not specified [RCV004305795] Chr5:177466915 [GRCh38]
Chr5:176893916 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.377C>T (p.Ala126Val) single nucleotide variant not specified [RCV004297153] Chr5:177467581 [GRCh38]
Chr5:176894582 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175570678-177437340)x1 copy number loss See cases [RCV000512405] Chr5:175570678..177437340 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
Single allele duplication not provided [RCV000677989] Chr5:176798338..177423150 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177436413)x1 copy number loss not provided [RCV000682615] Chr5:175570677..177436413 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176044976-177023859)x1 copy number loss not provided [RCV000682618] Chr5:176044976..177023859 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175438045-177481250)x1 copy number loss not provided [RCV000682614] Chr5:175438045..177481250 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3 copy number gain not provided [RCV000745284] Chr5:155344802..180693344 [GRCh37]
Chr5:5q33.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174832617-180693344)x3 copy number gain not provided [RCV000745336] Chr5:174832617..180693344 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175346223-177423236)x1 copy number loss not provided [RCV000745338] Chr5:175346223..177423236 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175433876-177441189)x1 copy number loss not provided [RCV000745339] Chr5:175433876..177441189 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_001363541.2(DBN1):c.1152G>A (p.Pro384=) single nucleotide variant not provided [RCV000963857] Chr5:177459210 [GRCh38]
Chr5:176886211 [GRCh37]
Chr5:5q35.3		 benign
NM_001363541.2(DBN1):c.117T>C (p.Asp39=) single nucleotide variant not provided [RCV000963858] Chr5:177468869 [GRCh38]
Chr5:176895870 [GRCh37]
Chr5:5q35.3		 benign
NM_001363541.2(DBN1):c.1914+4C>T single nucleotide variant not provided [RCV000883771] Chr5:177458054 [GRCh38]
Chr5:176885055 [GRCh37]
Chr5:5q35.3		 benign
NM_001363541.2(DBN1):c.1134C>T (p.Pro378=) single nucleotide variant not provided [RCV000946903] Chr5:177459228 [GRCh38]
Chr5:176886229 [GRCh37]
Chr5:5q35.3		 benign
NM_001363541.2(DBN1):c.143-5C>T single nucleotide variant not provided [RCV000968597] Chr5:177468225 [GRCh38]
Chr5:176895226 [GRCh37]
Chr5:5q35.3		 benign
NM_001363541.2(DBN1):c.1688C>T (p.Pro563Leu) single nucleotide variant not provided [RCV000943528] Chr5:177458284 [GRCh38]
Chr5:176885285 [GRCh37]
Chr5:5q35.3		 likely benign
GRCh37/hg19 5q35.2-35.3(chr5:176305543-177422876) copy number gain not provided [RCV000767712] Chr5:176305543..177422876 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937) copy number gain not provided [RCV000767711] Chr5:174990352..180690937 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_001363541.2(DBN1):c.677G>A (p.Arg226Gln) single nucleotide variant not provided [RCV000954655] Chr5:177466941 [GRCh38]
Chr5:176893942 [GRCh37]
Chr5:5q35.3		 benign
NM_001363541.2(DBN1):c.399C>T (p.Leu133=) single nucleotide variant not provided [RCV000893784] Chr5:177467559 [GRCh38]
Chr5:176894560 [GRCh37]
Chr5:5q35.3		 benign
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789) copy number gain Hunter-McAlpine craniosynostosis [RCV002280612] Chr5:149010383..180719789 [GRCh37]
Chr5:5q32-35.3		 pathogenic
GRCh37/hg19 5q35.3(chr5:176643613-179085551)x3 copy number gain not provided [RCV000846590] Chr5:176643613..179085551 [GRCh37]
Chr5:5q35.3		 uncertain significance
Single allele deletion Marfanoid habitus and intellectual disability [RCV000851176] Chr5:175875407..177036017 [GRCh37]
Chr5:5q35.2-35.3		 likely pathogenic
GRCh37/hg19 5q35.3(chr5:176774402-177064884)x4 copy number gain not provided [RCV000848335] Chr5:176774402..177064884 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3 copy number gain not provided [RCV000847220] Chr5:176848982..180719789 [GRCh37]
Chr5:5q35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3 copy number gain not provided [RCV000846148] Chr5:175570677..177439550 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.3(chr5:176732536-177260046)x1 copy number loss not provided [RCV000845642] Chr5:176732536..177260046 [GRCh37]
Chr5:5q35.3		 uncertain significance
NC_000005.9:g.(?_176289625)_(177151363_?)del deletion Sotos syndrome [RCV003232856]|not provided [RCV003113198] Chr5:176289625..177151363 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic|no classifications from unflagged records
GRCh37/hg19 5q35.3(chr5:176718361-176957659)x3 copy number gain not provided [RCV002472682] Chr5:176718361..176957659 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3 copy number gain 5q35 microduplication syndrome [RCV001263227] Chr5:170805664..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1 copy number loss Sotos syndrome [RCV003232270] Chr5:175346695..177469711 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177114151)x3 copy number gain not provided [RCV001258712] Chr5:175570677..177114151 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175394616-177436413)x3 copy number gain not provided [RCV001258713] Chr5:175394616..177436413 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_001363541.2(DBN1):c.628C>T (p.Arg210Trp) single nucleotide variant not specified [RCV004608835] Chr5:177466990 [GRCh38]
Chr5:176893991 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:176497464-177776599)x3 copy number gain not provided [RCV001832980] Chr5:176497464..177776599 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic|likely pathogenic
NC_000005.9:g.(?_176047812)_(177422934_?)dup duplication Ehlers-Danlos syndrome progeroid type [RCV001883344]|not provided [RCV001879660] Chr5:176047812..177422934 [GRCh37]
Chr5:5q35.2-35.3		 uncertain significance
NC_000005.9:g.(?_176047812)_(177422934_?)del deletion Ehlers-Danlos syndrome progeroid type [RCV001931790] Chr5:176047812..177422934 [GRCh37]
Chr5:5q35.2-35.3		 uncertain significance
NC_000005.9:g.(?_175158654)_(179263593_?)dup duplication Ehlers-Danlos syndrome, dermatosparaxis type [RCV003116717]|Sotos syndrome [RCV003232857]|not provided [RCV003154288] Chr5:175158654..179263593 [GRCh37]
Chr5:5q35.2-35.3		 uncertain significance|no classifications from unflagged records
NC_000005.9:g.(?_176618865)_(177036696_?)dup duplication Sotos syndrome [RCV003232859] Chr5:176618865..177036696 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3 copy number gain See cases [RCV002292398] Chr5:170350336..180719789 [GRCh37]
Chr5:5q35.1-35.3		 pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176516440-177773252)x3 copy number gain not provided [RCV002474595] Chr5:176516440..177773252 [GRCh37]
Chr5:5q35.2-35.3		 likely pathogenic
GRCh37/hg19 5q35.3(chr5:176616151-177107778)x3 copy number gain not provided [RCV002472763] Chr5:176616151..177107778 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:176547912-177126647)x3 copy number gain not provided [RCV002472528] Chr5:176547912..177126647 [GRCh37]
Chr5:5q35.2-35.3		 likely pathogenic
NM_001363541.2(DBN1):c.1571T>C (p.Leu524Pro) single nucleotide variant not specified [RCV004220051] Chr5:177458401 [GRCh38]
Chr5:176885402 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.1199G>A (p.Arg400Gln) single nucleotide variant not specified [RCV004121592] Chr5:177459163 [GRCh38]
Chr5:176886164 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.1207G>C (p.Asp403His) single nucleotide variant not specified [RCV004098835] Chr5:177459155 [GRCh38]
Chr5:176886156 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.1648G>A (p.Val550Ile) single nucleotide variant not specified [RCV004081974] Chr5:177458324 [GRCh38]
Chr5:176885325 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.928G>T (p.Val310Leu) single nucleotide variant not specified [RCV004206318] Chr5:177460459 [GRCh38]
Chr5:176887460 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.536A>G (p.Gln179Arg) single nucleotide variant not specified [RCV004232877] Chr5:177467274 [GRCh38]
Chr5:176894275 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.1958C>T (p.Ala653Val) single nucleotide variant not specified [RCV004108690] Chr5:177457714 [GRCh38]
Chr5:176884715 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.110G>A (p.Gly37Asp) single nucleotide variant not specified [RCV004129697] Chr5:177468876 [GRCh38]
Chr5:176895877 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.163T>G (p.Ser55Ala) single nucleotide variant not specified [RCV004075063] Chr5:177468200 [GRCh38]
Chr5:176895201 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.446G>A (p.Arg149Gln) single nucleotide variant not specified [RCV004209160] Chr5:177467512 [GRCh38]
Chr5:176894513 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.475G>A (p.Val159Met) single nucleotide variant not specified [RCV004158306] Chr5:177467483 [GRCh38]
Chr5:176894484 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.1718G>T (p.Cys573Phe) single nucleotide variant not specified [RCV004208300] Chr5:177458254 [GRCh38]
Chr5:176885255 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.807G>A (p.Met269Ile) single nucleotide variant not specified [RCV004199472] Chr5:177460668 [GRCh38]
Chr5:176887669 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.1144C>T (p.Arg382Trp) single nucleotide variant not specified [RCV004101612] Chr5:177459218 [GRCh38]
Chr5:176886219 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.241G>A (p.Val81Met) single nucleotide variant not specified [RCV004321912] Chr5:177468122 [GRCh38]
Chr5:176895123 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.766A>G (p.Ile256Val) single nucleotide variant not specified [RCV004253342] Chr5:177466777 [GRCh38]
Chr5:176893778 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.521G>A (p.Arg174Gln) single nucleotide variant not specified [RCV004270396] Chr5:177467289 [GRCh38]
Chr5:176894290 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.337G>A (p.Asp113Asn) single nucleotide variant not specified [RCV004347749] Chr5:177467621 [GRCh38]
Chr5:176894622 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.1694C>T (p.Pro565Leu) single nucleotide variant not specified [RCV004365825] Chr5:177458278 [GRCh38]
Chr5:176885279 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.1444G>A (p.Val482Met) single nucleotide variant not specified [RCV004359280] Chr5:177458528 [GRCh38]
Chr5:176885529 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.731C>T (p.Ala244Val) single nucleotide variant not specified [RCV004343334] Chr5:177466812 [GRCh38]
Chr5:176893813 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175332333-177469711)x1 copy number loss not provided [RCV003485494] Chr5:175332333..177469711 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
Single allele deletion not provided [RCV003448669] Chr5:175559209..177430432 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
NM_001363541.2(DBN1):c.687G>A (p.Glu229=) single nucleotide variant not provided [RCV003430031] Chr5:177466931 [GRCh38]
Chr5:176893932 [GRCh37]
Chr5:5q35.3		 likely benign
GRCh37/hg19 5q35.2-35.3(chr5:176385815-178410738)x1 copy number loss not specified [RCV003986570] Chr5:176385815..178410738 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
GRCh37/hg19 5q35.3(chr5:176744569-177107777)x3 copy number gain not specified [RCV003986576] Chr5:176744569..177107777 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.1147A>C (p.Ser383Arg) single nucleotide variant not specified [RCV004373000] Chr5:177459215 [GRCh38]
Chr5:176886216 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.1244C>A (p.Pro415Gln) single nucleotide variant not specified [RCV004373002] Chr5:177459118 [GRCh38]
Chr5:176886119 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.1297G>A (p.Glu433Lys) single nucleotide variant not specified [RCV004373004] Chr5:177458675 [GRCh38]
Chr5:176885676 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.1388C>T (p.Pro463Leu) single nucleotide variant not specified [RCV004373005] Chr5:177458584 [GRCh38]
Chr5:176885585 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.1465G>A (p.Ala489Thr) single nucleotide variant not specified [RCV004373008] Chr5:177458507 [GRCh38]
Chr5:176885508 [GRCh37]
Chr5:5q35.3		 likely benign
NM_001363541.2(DBN1):c.1637C>T (p.Ser546Leu) single nucleotide variant not specified [RCV004373011] Chr5:177458335 [GRCh38]
Chr5:176885336 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.1996G>C (p.Val666Leu) single nucleotide variant not specified [RCV004373013] Chr5:177457676 [GRCh38]
Chr5:176884677 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.79G>A (p.Ala27Thr) single nucleotide variant not specified [RCV004373014] Chr5:177473443 [GRCh38]
Chr5:176900444 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.108T>A (p.Asp36Glu) single nucleotide variant not specified [RCV004373003] Chr5:177468878 [GRCh38]
Chr5:176895879 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.1453G>A (p.Ala485Thr) single nucleotide variant not specified [RCV004373007] Chr5:177458519 [GRCh38]
Chr5:176885520 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.1540G>A (p.Val514Ile) single nucleotide variant not specified [RCV004373009] Chr5:177458432 [GRCh38]
Chr5:176885433 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.1991C>T (p.Pro664Leu) single nucleotide variant not specified [RCV004373012] Chr5:177457681 [GRCh38]
Chr5:176884682 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.927T>A (p.Asp309Glu) single nucleotide variant not specified [RCV004373015] Chr5:177460460 [GRCh38]
Chr5:176887461 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.1114C>T (p.Arg372Trp) single nucleotide variant not specified [RCV004373016] Chr5:177459248 [GRCh38]
Chr5:176886249 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.1177C>G (p.Pro393Ala) single nucleotide variant not specified [RCV004373001] Chr5:177459185 [GRCh38]
Chr5:176886186 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.1429G>A (p.Val477Ile) single nucleotide variant not specified [RCV004373006] Chr5:177458543 [GRCh38]
Chr5:176885544 [GRCh37]
Chr5:5q35.3		 uncertain significance
NM_001363541.2(DBN1):c.136T>A (p.Ser46Thr) single nucleotide variant not specified [RCV004373010] Chr5:177468850 [GRCh38]
Chr5:176895851 [GRCh37]
Chr5:5q35.3		 uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175470000-177450000)x1 copy number loss not provided [RCV004577486] Chr5:175470000..177450000 [GRCh37]
Chr5:5q35.2-35.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4418
Count of miRNA genes:1046
Interacting mature miRNAs:1300
Transcripts:ENST00000292385, ENST00000309007, ENST00000393563, ENST00000393565, ENST00000467054, ENST00000471767, ENST00000472831, ENST00000477391, ENST00000505550, ENST00000506117, ENST00000512501, ENST00000514833
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407167300GWAS816276_Heducational attainment QTL GWAS816276 (human)5e-11educational attainment5177462529177462530Human
407317495GWAS966471_Hglomerular filtration rate QTL GWAS966471 (human)5e-10glomerular filtration rateglomerular filtration rate (CMO:0000490)5177470493177470494Human
2289409BW320_HBody weight QTL 320 (human)3.50.0002Body weightlean mass5160925164181538259Human
407063840GWAS712816_Hself reported educational attainment QTL GWAS712816 (human)1e-18self reported educational attainment5177460105177460106Human
407055177GWAS704153_Hintelligence QTL GWAS704153 (human)2e-11intelligence5177472545177472546Human
407344796GWAS993772_Hattention deficit hyperactivity disorder, autism spectrum disorder, intelligence QTL GWAS993772 (human)3e-10attention deficit hyperactivity disorder, autism spectrum disorder, intelligence5177472545177472546Human
407108623GWAS757599_Hself reported educational attainment QTL GWAS757599 (human)1e-22self reported educational attainment5177460105177460106Human
407285323GWAS934299_Hcreatinine measurement QTL GWAS934299 (human)4e-11creatinine measurementblood creatinine measurement (CMO:0000767)5177470493177470494Human

Markers in Region
PMC343817P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,901,289 - 176,901,518UniSTSGRCh37
Build 365176,833,895 - 176,834,124RGDNCBI36
Celera5171,600,191 - 171,600,420RGD
Cytogenetic Map5q35.3UniSTS
HuRef5171,821,604 - 171,821,833UniSTS
A002E15  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,884,002 - 176,884,157UniSTSGRCh37
Build 365176,816,608 - 176,816,763RGDNCBI36
Celera5171,617,485 - 171,617,640RGD
Cytogenetic Map5q35.3UniSTS
HuRef5171,804,242 - 171,804,397UniSTS
GeneMap99-GB4 RH Map5645.13UniSTS
Whitehead-RH Map5542.7UniSTS
NCBI RH Map5973.0UniSTS
MARC_1067-1068:991929590:7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,884,735 - 176,885,157UniSTSGRCh37
Build 365176,817,341 - 176,817,763RGDNCBI36
DBN1__4671  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,883,704 - 176,884,471UniSTSGRCh37
Build 365176,816,310 - 176,817,077RGDNCBI36
Celera5171,617,171 - 171,617,938RGD
HuRef5171,803,944 - 171,804,711UniSTS
ksks27  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,884,849 - 176,885,105UniSTSGRCh37
Celera5171,616,537 - 171,616,793UniSTS
HuRef5171,805,089 - 171,805,345UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1725 2351 6 624 1948 465 2270 7303 6469 53 3733 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001363541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001393630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001393631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_080881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC145098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI683844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW950551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF205663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D17530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA245346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR158741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC369599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U00802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000292385   ⟹   ENSP00000292385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,456,927 - 177,473,198 (-)Ensembl
Ensembl Acc Id: ENST00000309007   ⟹   ENSP00000308532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,456,608 - 177,473,741 (-)Ensembl
Ensembl Acc Id: ENST00000393565   ⟹   ENSP00000377195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,456,610 - 177,473,634 (-)Ensembl
Ensembl Acc Id: ENST00000467054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,458,297 - 177,460,642 (-)Ensembl
Ensembl Acc Id: ENST00000471767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,466,831 - 177,467,598 (-)Ensembl
Ensembl Acc Id: ENST00000472831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,456,934 - 177,473,624 (-)Ensembl
Ensembl Acc Id: ENST00000477391   ⟹   ENSP00000422854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,460,432 - 177,473,613 (-)Ensembl
Ensembl Acc Id: ENST00000505550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,468,553 - 177,473,622 (-)Ensembl
Ensembl Acc Id: ENST00000506117   ⟹   ENSP00000425546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,467,490 - 177,472,870 (-)Ensembl
Ensembl Acc Id: ENST00000512501   ⟹   ENSP00000423208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,457,367 - 177,462,413 (-)Ensembl
Ensembl Acc Id: ENST00000514833   ⟹   ENSP00000421465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5177,467,586 - 177,474,401 (-)Ensembl
RefSeq Acc Id: NM_001363541   ⟹   NP_001350470
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,456,610 - 177,473,634 (-)NCBI
T2T-CHM13v2.05177,999,656 - 178,016,618 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001364151   ⟹   NP_001351080
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,456,610 - 177,473,634 (-)NCBI
T2T-CHM13v2.05177,999,656 - 178,016,618 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001364152   ⟹   NP_001351081
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,456,610 - 177,462,426 (-)NCBI
T2T-CHM13v2.05177,999,656 - 178,005,470 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001393630   ⟹   NP_001380559
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,456,610 - 177,472,840 (-)NCBI
T2T-CHM13v2.05177,999,656 - 178,015,824 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001393631   ⟹   NP_001380560
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,456,610 - 177,472,840 (-)NCBI
T2T-CHM13v2.05177,999,656 - 178,015,824 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004395   ⟹   NP_004386
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,456,610 - 177,473,634 (-)NCBI
GRCh375176,883,613 - 176,900,694 (-)NCBI
Build 365176,816,220 - 176,833,271 (-)NCBI Archive
HuRef5171,803,862 - 171,820,946 (-)ENTREZGENE
CHM1_15176,316,642 - 176,333,751 (-)NCBI
T2T-CHM13v2.05177,999,656 - 178,016,618 (-)NCBI
Sequence:
RefSeq Acc Id: NM_080881   ⟹   NP_543157
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,456,610 - 177,472,840 (-)NCBI
GRCh375176,883,613 - 176,900,694 (-)NCBI
Build 365176,816,220 - 176,832,805 (-)NCBI Archive
HuRef5171,803,862 - 171,820,946 (-)ENTREZGENE
CHM1_15176,316,642 - 176,332,928 (-)NCBI
T2T-CHM13v2.05177,999,656 - 178,015,824 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017009139   ⟹   XP_016864628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,456,610 - 177,472,497 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047416833   ⟹   XP_047272789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,456,610 - 177,472,840 (-)NCBI
RefSeq Acc Id: XM_054351858   ⟹   XP_054207833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05177,999,656 - 178,023,516 (-)NCBI
RefSeq Acc Id: XM_054351859   ⟹   XP_054207834
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05177,999,656 - 178,023,769 (-)NCBI
RefSeq Acc Id: XM_054351860   ⟹   XP_054207835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05177,999,656 - 178,015,824 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001350470 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351080 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351081 (Get FASTA)   NCBI Sequence Viewer  
  NP_001380559 (Get FASTA)   NCBI Sequence Viewer  
  NP_001380560 (Get FASTA)   NCBI Sequence Viewer  
  NP_004386 (Get FASTA)   NCBI Sequence Viewer  
  NP_543157 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864628 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272789 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207833 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207834 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207835 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA16256 (Get FASTA)   NCBI Sequence Viewer  
  AAH00283 (Get FASTA)   NCBI Sequence Viewer  
  AAH07281 (Get FASTA)   NCBI Sequence Viewer  
  AAH07567 (Get FASTA)   NCBI Sequence Viewer  
  BAA04480 (Get FASTA)   NCBI Sequence Viewer  
  BAG37207 (Get FASTA)   NCBI Sequence Viewer  
  BAG52819 (Get FASTA)   NCBI Sequence Viewer  
  BAH12026 (Get FASTA)   NCBI Sequence Viewer  
  BBD06306 (Get FASTA)   NCBI Sequence Viewer  
  CAB53683 (Get FASTA)   NCBI Sequence Viewer  
  EAW84989 (Get FASTA)   NCBI Sequence Viewer  
  EAW84990 (Get FASTA)   NCBI Sequence Viewer  
  EAW84991 (Get FASTA)   NCBI Sequence Viewer  
  EAW84992 (Get FASTA)   NCBI Sequence Viewer  
  EAW84993 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000292385
  ENSP00000292385.5
  ENSP00000308532
  ENSP00000308532.5
  ENSP00000377195
  ENSP00000377195.1
  ENSP00000421465.1
  ENSP00000422854.1
  ENSP00000423208.1
  ENSP00000425546.1
GenBank Protein Q16643 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_004386   ⟸   NM_004395
- Peptide Label: isoform a
- UniProtKB: Q16643 (UniProtKB/Swiss-Prot),   B2RBG0 (UniProtKB/Swiss-Prot),   A8MV58 (UniProtKB/Swiss-Prot),   Q9UFZ5 (UniProtKB/Swiss-Prot),   A0A2Z6ATB6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_543157   ⟸   NM_080881
- Peptide Label: isoform b
- UniProtKB: A0A2Z6ATB6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016864628   ⟸   XM_017009139
- Peptide Label: isoform X1
- UniProtKB: A0A2Z6ATB6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001351080   ⟸   NM_001364151
- Peptide Label: isoform d
- UniProtKB: A0A2Z6ATB6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001351081   ⟸   NM_001364152
- Peptide Label: isoform e
- UniProtKB: B7Z2Z0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001350470   ⟸   NM_001363541
- Peptide Label: isoform c
- UniProtKB: A0A2Z6ATB6 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000422854   ⟸   ENST00000477391
Ensembl Acc Id: ENSP00000292385   ⟸   ENST00000292385
Ensembl Acc Id: ENSP00000308532   ⟸   ENST00000309007
Ensembl Acc Id: ENSP00000425546   ⟸   ENST00000506117
Ensembl Acc Id: ENSP00000377195   ⟸   ENST00000393565
Ensembl Acc Id: ENSP00000423208   ⟸   ENST00000512501
Ensembl Acc Id: ENSP00000421465   ⟸   ENST00000514833
RefSeq Acc Id: NP_001380560   ⟸   NM_001393631
- Peptide Label: isoform g
- UniProtKB: A0A2Z6ATB6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001380559   ⟸   NM_001393630
- Peptide Label: isoform f
- UniProtKB: A0A2Z6ATB6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272789   ⟸   XM_047416833
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054207834   ⟸   XM_054351859
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054207833   ⟸   XM_054351858
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054207835   ⟸   XM_054351860
- Peptide Label: isoform X2
Protein Domains
ADF-H

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q16643-F1-model_v2 AlphaFold Q16643 1-649 view protein structure

Promoters
RGD ID:6802990
Promoter ID:HG_KWN:51913
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000258889
Position:
Human AssemblyChrPosition (strand)Source
Build 365176,821,741 - 176,822,241 (-)MPROMDB
RGD ID:6803059
Promoter ID:HG_KWN:51916
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:ENST00000393563
Position:
Human AssemblyChrPosition (strand)Source
Build 365176,831,449 - 176,831,949 (-)MPROMDB
RGD ID:6803004
Promoter ID:HG_KWN:51917
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000292385,   ENST00000393565,   OTTHUMT00000253429,   OTTHUMT00000258888,   UC010JKN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 365176,832,491 - 176,833,217 (-)MPROMDB
RGD ID:6871714
Promoter ID:EPDNEW_H9022
Type:initiation region
Name:DBN1_1
Description:drebrin 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
GRCh385177,473,624 - 177,473,684EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2695 AgrOrtholog
COSMIC DBN1 COSMIC
Ensembl Genes ENSG00000113758 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000292385 ENTREZGENE
  ENST00000292385.9 UniProtKB/Swiss-Prot
  ENST00000309007 ENTREZGENE
  ENST00000309007.9 UniProtKB/Swiss-Prot
  ENST00000393565 ENTREZGENE
  ENST00000393565.6 UniProtKB/Swiss-Prot
  ENST00000477391.6 UniProtKB/TrEMBL
  ENST00000506117.5 UniProtKB/TrEMBL
  ENST00000512501.1 UniProtKB/TrEMBL
  ENST00000514833.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.20.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000113758 GTEx
HGNC ID HGNC:2695 ENTREZGENE
Human Proteome Map DBN1 Human Proteome Map
InterPro ADF-H UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADF-H/Gelsolin-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1627 UniProtKB/Swiss-Prot
NCBI Gene 1627 ENTREZGENE
OMIM 126660 OMIM
PANTHER CORTACTIN AND DREBRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DREBRIN UniProtKB/TrEMBL
  PTHR10829:SF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SI:CH73-193C12.2-RELATED UniProtKB/TrEMBL
Pfam Cofilin_ADF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27163 PharmGKB
PROSITE ADF_H UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ADF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Actin depolymerizing proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2Z6ATB6 ENTREZGENE, UniProtKB/TrEMBL
  A8MV58 ENTREZGENE
  B2RBG0 ENTREZGENE
  B3KSQ7_HUMAN UniProtKB/TrEMBL
  B7Z2Z0 ENTREZGENE, UniProtKB/TrEMBL
  D6R9Q9_HUMAN UniProtKB/TrEMBL
  D6R9W4_HUMAN UniProtKB/TrEMBL
  D6RCR4_HUMAN UniProtKB/TrEMBL
  D6RFI1_HUMAN UniProtKB/TrEMBL
  DREB_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9UFZ5 ENTREZGENE
UniProt Secondary A8MV58 UniProtKB/Swiss-Prot
  B2RBG0 UniProtKB/Swiss-Prot
  Q9UFZ5 UniProtKB/Swiss-Prot