DTNBP1 (dystrobrevin binding protein 1) - Rat Genome Database
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Gene: DTNBP1 (dystrobrevin binding protein 1) Homo sapiens
Analyze
Symbol: DTNBP1
Name: dystrobrevin binding protein 1
RGD ID: 1342501
HGNC Page HGNC
Description: Involved in neuron projection development. Localizes to several cellular components, including BLOC-1 complex; midbody; and synaptic vesicle membrane. Implicated in Hermansky-Pudlak syndrome 7 and schizophrenia. Biomarker of temporal lobe epilepsy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: biogenesis of lysosomal organelles complex-1, subunit 8; biogenesis of lysosome-related organelles complex 1 subunit 8; BLOC-1 subunit 8; BLOC1S8; DBND; DKFZp564K192; dysbindin; dysbindin-1; dystrobrevin-binding protein 1; FLJ30031; hermansky-Pudlak syndrome 7 protein; HPS7; MGC20210; My031; SDY
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl615,522,807 - 15,663,058 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl615,522,801 - 15,663,058 (-)EnsemblGRCh38hg38GRCh38
GRCh38615,522,803 - 15,663,058 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37615,523,032 - 15,663,289 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh37615,523,038 - 15,663,289 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36615,631,017 - 15,771,250 (-)NCBINCBI36hg18NCBI36
Build 34615,631,019 - 15,771,250NCBI
Celera616,760,985 - 16,901,244 (-)NCBI
Cytogenetic Map6p22.3NCBI
HuRef615,470,266 - 15,609,971 (-)NCBIHuRef
CHM1_1615,525,522 - 15,665,696 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function
protein binding  (IPI,ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:11031247   PMID:11230166   PMID:11252894   PMID:11316798   PMID:12098102   PMID:12191018   PMID:12453182   PMID:12477932   PMID:12576321   PMID:12591580   PMID:12808430   PMID:12888799  
PMID:14574404   PMID:14618545   PMID:14688250   PMID:14702039   PMID:15066891   PMID:15102850   PMID:15121479   PMID:15124015   PMID:15124027   PMID:15211634   PMID:15248869   PMID:15274041  
PMID:15362017   PMID:15374586   PMID:15489334   PMID:15820225   PMID:15917270   PMID:16044171   PMID:16133786   PMID:16189514   PMID:16283082   PMID:16407900   PMID:16415041   PMID:16448387  
PMID:16513878   PMID:16837549   PMID:16876895   PMID:16899160   PMID:16930638   PMID:16946192   PMID:16959423   PMID:16967465   PMID:16980328   PMID:17033966   PMID:17043677   PMID:17055463  
PMID:17074466   PMID:17192893   PMID:17264804   PMID:17290445   PMID:17300918   PMID:17336946   PMID:17407805   PMID:17408693   PMID:17410640   PMID:17433541   PMID:17445278   PMID:17474147  
PMID:17476109   PMID:17555717   PMID:17577571   PMID:17604607   PMID:17618940   PMID:17888175   PMID:17945199   PMID:17961984   PMID:17964051   PMID:17989303   PMID:18029348   PMID:18162312  
PMID:18180429   PMID:18182443   PMID:18198266   PMID:18234478   PMID:18314870   PMID:18411704   PMID:18466879   PMID:18473158   PMID:18516516   PMID:18562100   PMID:18583979   PMID:18797396  
PMID:18804346   PMID:19065121   PMID:19077176   PMID:19089808   PMID:19142223   PMID:19219857   PMID:19252939   PMID:19328558   PMID:19335929   PMID:19349376   PMID:19353385   PMID:19367581  
PMID:19369910   PMID:19439994   PMID:19449336   PMID:19475563   PMID:19482054   PMID:19496996   PMID:19497374   PMID:19573260   PMID:19615732   PMID:19617633   PMID:19621369   PMID:19631276  
PMID:19650139   PMID:19672240   PMID:19729970   PMID:19760674   PMID:19782967   PMID:19800201   PMID:19859905   PMID:19862852   PMID:19884986   PMID:19937977   PMID:19996605   PMID:20010894  
PMID:20083391   PMID:20174469   PMID:20180862   PMID:20199207   PMID:20301464   PMID:20421849   PMID:20598229   PMID:20602615   PMID:20615259   PMID:20615671   PMID:20638435   PMID:20666140  
PMID:20683774   PMID:20822372   PMID:20829635   PMID:20846375   PMID:20921223   PMID:20951386   PMID:21041608   PMID:21130223   PMID:21184829   PMID:21295953   PMID:21305691   PMID:21390302  
PMID:21502952   PMID:21512575   PMID:21520000   PMID:21639861   PMID:21873635   PMID:22019876   PMID:22203680   PMID:22283763   PMID:22580710   PMID:22911901   PMID:23364359   PMID:23414517  
PMID:23497497   PMID:23612411   PMID:23750231   PMID:24145376   PMID:24713699   PMID:24722188   PMID:25042954   PMID:25196196   PMID:25298178   PMID:25303981   PMID:25416956   PMID:25530342  
PMID:25635053   PMID:25697573   PMID:25704251   PMID:26171858   PMID:26186194   PMID:26285059   PMID:26344197   PMID:26386481   PMID:26673895   PMID:26871637   PMID:27091610   PMID:27107014  
PMID:27130439   PMID:27173435   PMID:27421225   PMID:27798936   PMID:27855309   PMID:27880917   PMID:28465353   PMID:28514442   PMID:29040676   PMID:29759351   PMID:29891954   PMID:30062698  
PMID:30230404   PMID:30252773   PMID:32120026   PMID:32296183  


Genomics

Comparative Map Data
DTNBP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl615,522,807 - 15,663,058 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl615,522,801 - 15,663,058 (-)EnsemblGRCh38hg38GRCh38
GRCh38615,522,803 - 15,663,058 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37615,523,032 - 15,663,289 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh37615,523,038 - 15,663,289 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36615,631,017 - 15,771,250 (-)NCBINCBI36hg18NCBI36
Build 34615,631,019 - 15,771,250NCBI
Celera616,760,985 - 16,901,244 (-)NCBI
Cytogenetic Map6p22.3NCBI
HuRef615,470,266 - 15,609,971 (-)NCBIHuRef
CHM1_1615,525,522 - 15,665,696 (-)NCBICHM1_1
Dtnbp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391345,075,552 - 45,155,614 (-)NCBIGRCm39mm39
GRCm381344,922,079 - 45,002,096 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1344,922,075 - 45,002,147 (-)EnsemblGRCm38mm10GRCm38
MGSCv371345,017,448 - 45,097,465 (-)NCBIGRCm37mm9NCBIm37
MGSCv361344,933,051 - 45,013,068 (-)NCBImm8
Celera1345,997,733 - 46,077,631 (-)NCBICelera
Cytogenetic Map13A5NCBI
cM Map1321.73NCBI
Dtnbp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21719,685,218 - 19,776,668 (+)NCBI
Rnor_6.0 Ensembl1720,090,246 - 20,182,206 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01720,090,136 - 20,182,332 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01722,105,208 - 22,193,087 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1719,386,624 - 19,477,026 (+)NCBICelera
Cytogenetic Map17p14NCBI
Dtnbp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955590281,704 - 386,189 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955590276,143 - 382,812 (+)NCBIChiLan1.0ChiLan1.0
DTNBP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1615,741,698 - 15,887,039 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl615,741,698 - 15,887,256 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0615,377,263 - 15,523,317 (-)NCBIMhudiblu_PPA_v0panPan3
DTNBP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl3514,738,029 - 14,864,169 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.13514,738,025 - 14,862,609 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dtnbp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365521,787,687 - 1,926,516 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DTNBP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl711,600,792 - 11,748,548 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1711,602,470 - 11,720,156 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2712,191,535 - 12,309,282 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DTNBP1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11756,500,523 - 56,650,925 (+)NCBI
ChlSab1.1 Ensembl1756,500,574 - 56,651,491 (+)Ensembl
Dtnbp1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475610,810,368 - 10,932,801 (+)NCBI

Position Markers
RH94110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37615,523,164 - 15,523,318UniSTSGRCh37
Build 36615,631,143 - 15,631,297RGDNCBI36
Celera616,761,117 - 16,761,271RGD
Cytogenetic Map6p22.3UniSTS
HuRef615,470,398 - 15,470,552UniSTS
GeneMap99-GB4 RH Map658.09UniSTS
RH103603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37615,547,252 - 15,547,432UniSTSGRCh37
Build 36615,655,231 - 15,655,411RGDNCBI36
Celera616,785,205 - 16,785,385RGD
Cytogenetic Map6p22.3UniSTS
HuRef615,494,487 - 15,494,667UniSTS
GeneMap99-GB4 RH Map665.64UniSTS
SHGC-84219  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37615,571,404 - 15,571,700UniSTSGRCh37
Build 36615,679,383 - 15,679,679RGDNCBI36
Celera616,809,357 - 16,809,653RGD
Cytogenetic Map6p22.3UniSTS
HuRef615,518,649 - 15,518,945UniSTS
TNG Radiation Hybrid Map67258.0UniSTS
RH46674  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37615,601,320 - 15,601,463UniSTSGRCh37
Build 36615,709,299 - 15,709,442RGDNCBI36
Celera616,839,273 - 16,839,416RGD
Cytogenetic Map6p22.3UniSTS
HuRef615,548,617 - 15,548,760UniSTS
GeneMap99-GB4 RH Map663.15UniSTS
DTNBP1__4787  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37615,523,764 - 15,524,518UniSTSGRCh37
Build 36615,631,743 - 15,632,497RGDNCBI36
Celera616,761,717 - 16,762,471RGD
HuRef615,470,998 - 15,471,752UniSTS
RH48727  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37615,661,141 - 15,661,318UniSTSGRCh37
Build 36615,769,120 - 15,769,297RGDNCBI36
Celera616,899,096 - 16,899,273RGD
Cytogenetic Map6p22.3UniSTS
HuRef615,607,823 - 15,608,000UniSTS
GeneMap99-GB4 RH Map667.91UniSTS
WI-18297  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37615,601,378 - 15,601,515UniSTSGRCh37
Build 36615,709,357 - 15,709,494RGDNCBI36
Celera616,839,331 - 16,839,468RGD
Cytogenetic Map6p22.3UniSTS
HuRef615,548,675 - 15,548,812UniSTS
GeneMap99-GB4 RH Map658.09UniSTS
Whitehead-RH Map689.7UniSTS
NCBI RH Map6146.6UniSTS
D6S89  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p22.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3213
Count of miRNA genes:838
Interacting mature miRNAs:982
Transcripts:ENST00000338950, ENST00000344537, ENST00000355917, ENST00000462989, ENST00000506844, ENST00000509674, ENST00000510395, ENST00000511762, ENST00000513680, ENST00000514651, ENST00000515875
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2016 1874 977 155 1467 70 3338 1221 2967 306 1274 1534 95 938 2059 2
Low 423 1117 749 469 484 395 1019 976 767 113 186 79 80 1 266 729 4 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_183040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_036448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF061734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF394226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI097393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL021978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY265460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE793298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ056746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ108775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX394617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000338950   ⟹   ENSP00000344718
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl615,523,563 - 15,662,975 (-)Ensembl
RefSeq Acc Id: ENST00000344537   ⟹   ENSP00000341680
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl615,522,807 - 15,663,028 (-)Ensembl
RefSeq Acc Id: ENST00000355917   ⟹   ENSP00000348183
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl615,522,810 - 15,663,058 (-)Ensembl
RefSeq Acc Id: ENST00000462989   ⟹   ENSP00000427239
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl615,522,807 - 15,586,015 (-)Ensembl
RefSeq Acc Id: ENST00000506844   ⟹   ENSP00000424202
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl615,523,985 - 15,662,920 (-)Ensembl
RefSeq Acc Id: ENST00000509674   ⟹   ENSP00000421797
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl615,523,055 - 15,548,362 (-)Ensembl
RefSeq Acc Id: ENST00000510395   ⟹   ENSP00000424685
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl615,522,810 - 15,663,007 (-)Ensembl
RefSeq Acc Id: ENST00000511762   ⟹   ENSP00000427473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl615,524,540 - 15,663,020 (-)Ensembl
RefSeq Acc Id: ENST00000513680   ⟹   ENSP00000424357
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl615,522,843 - 15,663,058 (-)Ensembl
RefSeq Acc Id: ENST00000514651
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl615,524,112 - 15,533,547 (-)Ensembl
RefSeq Acc Id: ENST00000515875   ⟹   ENSP00000425495
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl615,522,837 - 15,663,030 (-)Ensembl
RefSeq Acc Id: ENST00000622898   ⟹   ENSP00000481997
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl615,522,810 - 15,663,058 (-)Ensembl
RefSeq Acc Id: NM_001271667   ⟹   NP_001258596
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38615,522,807 - 15,663,028 (-)NCBI
GRCh37615,523,032 - 15,663,289 (-)NCBI
HuRef615,470,266 - 15,609,971 (-)NCBI
CHM1_1615,525,528 - 15,665,696 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001271668   ⟹   NP_001258597
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38615,522,807 - 15,663,028 (-)NCBI
GRCh37615,523,032 - 15,663,289 (-)NCBI
HuRef615,470,266 - 15,609,971 (-)NCBI
CHM1_1615,525,528 - 15,665,696 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001271669   ⟹   NP_001258598
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38615,522,807 - 15,663,028 (-)NCBI
GRCh37615,523,032 - 15,663,289 (-)NCBI
HuRef615,470,266 - 15,609,971 (-)NCBI
CHM1_1615,525,528 - 15,665,696 (-)NCBI
Sequence:
RefSeq Acc Id: NM_032122   ⟹   NP_115498
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38615,522,807 - 15,663,028 (-)NCBI
GRCh37615,523,032 - 15,663,289 (-)ENTREZGENE
Build 36615,631,017 - 15,771,250 (-)NCBI Archive
HuRef615,470,266 - 15,609,971 (-)ENTREZGENE
CHM1_1615,525,522 - 15,665,696 (-)NCBI
Sequence:
RefSeq Acc Id: NM_183040   ⟹   NP_898861
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38615,523,563 - 15,663,058 (-)NCBI
GRCh37615,523,032 - 15,663,289 (-)ENTREZGENE
Build 36615,631,769 - 15,771,250 (-)NCBI Archive
HuRef615,470,266 - 15,609,971 (-)ENTREZGENE
CHM1_1615,526,299 - 15,665,696 (-)NCBI
Sequence:
RefSeq Acc Id: NR_036448
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38615,523,581 - 15,663,028 (-)NCBI
GRCh37615,523,032 - 15,663,289 (-)ENTREZGENE
HuRef615,470,266 - 15,609,971 (-)ENTREZGENE
CHM1_1615,526,299 - 15,665,696 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005249447   ⟹   XP_005249504
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38615,522,803 - 15,662,920 (-)NCBI
GRCh37615,523,032 - 15,663,289 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514936   ⟹   XP_011513238
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38615,522,803 - 15,662,956 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514937   ⟹   XP_011513239
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38615,522,803 - 15,586,181 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011348   ⟹   XP_016866837
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38615,522,803 - 15,533,865 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011349   ⟹   XP_016866838
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38615,522,803 - 15,533,707 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024446567   ⟹   XP_024302335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38615,522,803 - 15,554,012 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001258596 (Get FASTA)   NCBI Sequence Viewer  
  NP_001258597 (Get FASTA)   NCBI Sequence Viewer  
  NP_001258598 (Get FASTA)   NCBI Sequence Viewer  
  NP_115498 (Get FASTA)   NCBI Sequence Viewer  
  NP_898861 (Get FASTA)   NCBI Sequence Viewer  
  XP_005249504 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513238 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513239 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866837 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866838 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302335 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG43145 (Get FASTA)   NCBI Sequence Viewer  
  AAH11912 (Get FASTA)   NCBI Sequence Viewer  
  AAL46636 (Get FASTA)   NCBI Sequence Viewer  
  AAP91870 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34259 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34260 (Get FASTA)   NCBI Sequence Viewer  
  BAB70770 (Get FASTA)   NCBI Sequence Viewer  
  BAF83407 (Get FASTA)   NCBI Sequence Viewer  
  CAB66572 (Get FASTA)   NCBI Sequence Viewer  
  EAW55359 (Get FASTA)   NCBI Sequence Viewer  
  EAW55360 (Get FASTA)   NCBI Sequence Viewer  
  EAW55361 (Get FASTA)   NCBI Sequence Viewer  
  EAW55362 (Get FASTA)   NCBI Sequence Viewer  
  EAW55363 (Get FASTA)   NCBI Sequence Viewer  
  EAW55364 (Get FASTA)   NCBI Sequence Viewer  
  Q96EV8 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_115498   ⟸   NM_032122
- Peptide Label: isoform a
- UniProtKB: Q96EV8 (UniProtKB/Swiss-Prot),   A0A0S2Z5U8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_898861   ⟸   NM_183040
- Peptide Label: isoform b
- UniProtKB: Q96EV8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001258598   ⟸   NM_001271669
- Peptide Label: isoform e
- UniProtKB: Q96EV8 (UniProtKB/Swiss-Prot),   A0A087WYP9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001258597   ⟸   NM_001271668
- Peptide Label: isoform d
- UniProtKB: Q96EV8 (UniProtKB/Swiss-Prot),   A6NFV8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001258596   ⟸   NM_001271667
- Peptide Label: isoform C
- UniProtKB: Q96EV8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005249504   ⟸   XM_005249447
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011513238   ⟸   XM_011514936
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011513239   ⟸   XM_011514937
- Peptide Label: isoform X6
- UniProtKB: D6RJC6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016866837   ⟸   XM_017011348
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016866838   ⟸   XM_017011349
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_024302335   ⟸   XM_024446567
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000427239   ⟸   ENST00000462989
RefSeq Acc Id: ENSP00000481997   ⟸   ENST00000622898
RefSeq Acc Id: ENSP00000424202   ⟸   ENST00000506844
RefSeq Acc Id: ENSP00000421797   ⟸   ENST00000509674
RefSeq Acc Id: ENSP00000344718   ⟸   ENST00000338950
RefSeq Acc Id: ENSP00000424685   ⟸   ENST00000510395
RefSeq Acc Id: ENSP00000427473   ⟸   ENST00000511762
RefSeq Acc Id: ENSP00000348183   ⟸   ENST00000355917
RefSeq Acc Id: ENSP00000424357   ⟸   ENST00000513680
RefSeq Acc Id: ENSP00000425495   ⟸   ENST00000515875
RefSeq Acc Id: ENSP00000341680   ⟸   ENST00000344537

Promoters
RGD ID:6872108
Promoter ID:EPDNEW_H9219
Type:initiation region
Name:DTNBP1_1
Description:dystrobrevin binding protein 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
GRCh38615,662,982 - 15,663,042EPDNEW
RGD ID:6803941
Promoter ID:HG_KWN:52404
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000338950,   ENST00000355917,   ENST00000397306,   NM_183041,   OTTHUMT00000039933,   OTTHUMT00000039934,   UC003NBN.1,   UC003NBO.1,   UC010JPH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36615,770,906 - 15,771,406 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_032122.5(DTNBP1):c.307C>T (p.Gln103Ter) single nucleotide variant Hermansky-Pudlak syndrome 7 [RCV000003601] Chr6:15627391 [GRCh38]
Chr6:15627622 [GRCh37]
Chr6:6p22.3
pathogenic
NM_032122.4(DTNBP1):c.512-28478C>T single nucleotide variant Lung cancer [RCV000096631] Chr6:15561873 [GRCh38]
Chr6:15562104 [GRCh37]
Chr6:6p22.3
uncertain significance
GRCh38/hg38 6p24.1-22.3(chr6:13093117-22126024)x3 copy number gain See cases [RCV000051897] Chr6:13093117..22126024 [GRCh38]
Chr6:13093349..22126253 [GRCh37]
Chr6:13201335..22234232 [NCBI36]
Chr6:6p24.1-22.3
pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3 copy number gain See cases [RCV000051869] Chr6:106431..18360595 [GRCh38]
Chr6:106431..18360826 [GRCh37]
Chr6:51431..18468805 [NCBI36]
Chr6:6p25.3-22.3
pathogenic
GRCh38/hg38 6p23-22.3(chr6:13684282-16645068)x1 copy number loss See cases [RCV000052179] Chr6:13684282..16645068 [GRCh38]
Chr6:13684514..16645299 [GRCh37]
Chr6:13792493..16753278 [NCBI36]
Chr6:6p23-22.3
pathogenic
NM_032122.5(DTNBP1):c.1020G>C (p.Glu340Asp) single nucleotide variant not provided [RCV000084666] Chr6:15523011 [GRCh38]
Chr6:15523242 [GRCh37]
Chr6:6p22.3
not provided
NM_032122.5(DTNBP1):c.1019A>G (p.Glu340Gly) single nucleotide variant not provided [RCV000084667] Chr6:15523012 [GRCh38]
Chr6:15523243 [GRCh37]
Chr6:6p22.3
not provided
NM_032122.5(DTNBP1):c.950C>G (p.Pro317Arg) single nucleotide variant not provided [RCV000084668] Chr6:15523081 [GRCh38]
Chr6:15523312 [GRCh37]
Chr6:6p22.3
not provided
NM_032122.5(DTNBP1):c.654T>G (p.Ile218Met) single nucleotide variant not provided [RCV000084669] Chr6:15533253 [GRCh38]
Chr6:15533484 [GRCh37]
Chr6:6p22.3
not provided
NM_032122.5(DTNBP1):c.324C>T (p.Ile108=) single nucleotide variant not provided [RCV000084670] Chr6:15627374 [GRCh38]
Chr6:15627605 [GRCh37]
Chr6:6p22.3
not provided
GRCh38/hg38 6p24.1-22.3(chr6:13311519-16295560)x3 copy number gain See cases [RCV000136133] Chr6:13311519..16295560 [GRCh38]
Chr6:13311751..16295791 [GRCh37]
Chr6:13419730..16403770 [NCBI36]
Chr6:6p24.1-22.3
pathogenic
GRCh38/hg38 6p23-22.3(chr6:14545345-16062792)x3 copy number gain See cases [RCV000136138] Chr6:14545345..16062792 [GRCh38]
Chr6:14545576..16063023 [GRCh37]
Chr6:14653555..16171002 [NCBI36]
Chr6:6p23-22.3
uncertain significance
GRCh38/hg38 6p23-22.3(chr6:14730556-17554091)x1 copy number loss See cases [RCV000137275] Chr6:14730556..17554091 [GRCh38]
Chr6:14730787..17554322 [GRCh37]
Chr6:14838766..17662301 [NCBI36]
Chr6:6p23-22.3
likely pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:152634-15732163)x3 copy number gain See cases [RCV000138121] Chr6:152634..15732163 [GRCh38]
Chr6:152634..15732394 [GRCh37]
Chr6:97634..15840373 [NCBI36]
Chr6:6p25.3-22.3
likely benign
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 copy number gain See cases [RCV000138956] Chr6:3224310..30657190 [GRCh38]
Chr6:3224544..30624967 [GRCh37]
Chr6:3169543..30732946 [NCBI36]
Chr6:6p25.2-21.33
pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3 copy number gain See cases [RCV000140307] Chr6:155807..17058414 [GRCh38]
Chr6:155807..17058645 [GRCh37]
Chr6:100807..17166624 [NCBI36]
Chr6:6p25.3-22.3
pathogenic
GRCh38/hg38 6p23-22.3(chr6:14958760-18580908)x3 copy number gain See cases [RCV000140810] Chr6:14958760..18580908 [GRCh38]
Chr6:14958991..18581139 [GRCh37]
Chr6:15066970..18689118 [NCBI36]
Chr6:6p23-22.3
uncertain significance
GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1 copy number loss See cases [RCV000142435] Chr6:2862640..16697788 [GRCh38]
Chr6:2862874..16698019 [GRCh37]
Chr6:2807873..16805998 [NCBI36]
Chr6:6p25.2-22.3
pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3
pathogenic
NM_032122.5(DTNBP1):c.177G>A (p.Trp59Ter) single nucleotide variant Hermansky-Pudlak syndrome 1 [RCV000202442]|Hermansky-Pudlak syndrome 7 [RCV000150041] Chr6:15637789 [GRCh38]
Chr6:15638020 [GRCh37]
Chr6:6p22.3
pathogenic|likely pathogenic|not provided
NM_032122.5(DTNBP1):c.814C>T (p.Pro272Ser) single nucleotide variant not specified [RCV000150584] Chr6:15523217 [GRCh38]
Chr6:15523448 [GRCh37]
Chr6:6p22.3
benign|likely benign
NM_032122.5(DTNBP1):c.811+96G>A single nucleotide variant not specified [RCV000150585] Chr6:15524430 [GRCh38]
Chr6:15524661 [GRCh37]
Chr6:6p22.3
likely benign
NM_032122.5(DTNBP1):c.811+78C>T single nucleotide variant not specified [RCV000150586] Chr6:15524448 [GRCh38]
Chr6:15524679 [GRCh37]
Chr6:6p22.3
benign
NM_032122.5(DTNBP1):c.356-7C>T single nucleotide variant not specified [RCV000150587] Chr6:15615406 [GRCh38]
Chr6:15615637 [GRCh37]
Chr6:6p22.3
benign
NM_032122.5(DTNBP1):c.811+59A>G single nucleotide variant not specified [RCV000155537] Chr6:15524467 [GRCh38]
Chr6:15524698 [GRCh37]
Chr6:6p22.3
benign
NM_032122.5(DTNBP1):c.702C>T (p.Asn234=) single nucleotide variant not provided [RCV000962885]|not specified [RCV000193397] Chr6:15524635 [GRCh38]
Chr6:15524866 [GRCh37]
Chr6:6p22.3
benign|uncertain significance
NM_032122.5(DTNBP1):c.162G>A (p.Arg54=) single nucleotide variant not specified [RCV000195186] Chr6:15637804 [GRCh38]
Chr6:15638035 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_032122.5(DTNBP1):c.874A>G (p.Arg292Gly) single nucleotide variant not provided [RCV000956366]|not specified [RCV000222828] Chr6:15523157 [GRCh38]
Chr6:15523388 [GRCh37]
Chr6:6p22.3
benign|likely benign
NM_032122.5(DTNBP1):c.667+2C>T single nucleotide variant not provided [RCV000956367]|not specified [RCV000219066] Chr6:15533238 [GRCh38]
Chr6:15533469 [GRCh37]
Chr6:6p22.3
benign|likely benign
NM_032122.5(DTNBP1):c.487A>C (p.Arg163=) single nucleotide variant not specified [RCV000248608] Chr6:15615268 [GRCh38]
Chr6:15615499 [GRCh37]
Chr6:6p22.3
likely benign|uncertain significance
NM_183040.2(DTNBP1):c.511+50A>G single nucleotide variant not specified [RCV000251782] Chr6:15593009 [GRCh38]
Chr6:15593240 [GRCh37]
Chr6:6p22.3
benign
GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1 copy number loss See cases [RCV000240576] Chr6:5354402..17950079 [GRCh37]
Chr6:6p25.1-22.3
pathogenic
NM_183040.2(DTNBP1):c.355+21G>C single nucleotide variant not specified [RCV000252041] Chr6:15627322 [GRCh38]
Chr6:15627553 [GRCh37]
Chr6:6p22.3
likely benign
NM_032122.5(DTNBP1):c.-18A>G single nucleotide variant not specified [RCV000247299] Chr6:15662887 [GRCh38]
Chr6:15663118 [GRCh37]
Chr6:6p22.3
benign
GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3 copy number gain See cases [RCV000240460] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3
pathogenic
NM_032122.4(DTNBP1):c.886C>T (p.Pro296Ser) single nucleotide variant not provided [RCV000946920]|not specified [RCV000248315] Chr6:15523145 [GRCh38]
Chr6:15523376 [GRCh37]
Chr6:6p22.3
benign|likely benign
NM_032122.4(DTNBP1):c.*105A>G single nucleotide variant Hermansky-Pudlak syndrome [RCV000267058] Chr6:15522870 [GRCh38]
Chr6:15523101 [GRCh37]
Chr6:6p22.3
likely benign
NM_032122.5(DTNBP1):c.-142G>A single nucleotide variant Hermansky-Pudlak syndrome [RCV000332682] Chr6:15663011 [GRCh38]
Chr6:15663242 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_183040.2(DTNBP1):c.667+3G>A single nucleotide variant Hermansky-Pudlak syndrome [RCV000335378] Chr6:15533237 [GRCh38]
Chr6:15533468 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_032122.5(DTNBP1):c.276A>G (p.Thr92=) single nucleotide variant not provided [RCV000896124]|not specified [RCV000499793] Chr6:15627422 [GRCh38]
Chr6:15627653 [GRCh37]
Chr6:6p22.3
benign|likely benign|uncertain significance
NM_032122.4(DTNBP1):c.812-13C>T single nucleotide variant Hermansky-Pudlak syndrome [RCV000293228] Chr6:15523232 [GRCh38]
Chr6:15523463 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_183040.2(DTNBP1):c.355+10A>G single nucleotide variant Hermansky-Pudlak syndrome [RCV000366398] Chr6:15627333 [GRCh38]
Chr6:15627564 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_183040.2(DTNBP1):c.668-8A>G single nucleotide variant not provided [RCV000908354] Chr6:15524677 [GRCh38]
Chr6:15524908 [GRCh37]
Chr6:6p22.3
benign|uncertain significance
NM_032122.5(DTNBP1):c.-109G>A single nucleotide variant Hermansky-Pudlak syndrome [RCV000277597] Chr6:15662978 [GRCh38]
Chr6:15663209 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_183040.2(DTNBP1):c.489-8del deletion Hermansky-Pudlak syndrome [RCV000390240] Chr6:15593089 [GRCh38]
Chr6:15593320 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_032122.4(DTNBP1):c.*2T>C single nucleotide variant Hermansky-Pudlak syndrome [RCV000326999] Chr6:15522973 [GRCh38]
Chr6:15523204 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_032122.5(DTNBP1):c.438A>G (p.Arg146=) single nucleotide variant Hermansky-Pudlak syndrome [RCV000393970] Chr6:15615317 [GRCh38]
Chr6:15615548 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_032122.5(DTNBP1):c.532G>T (p.Ala178Ser) single nucleotide variant Hermansky-Pudlak syndrome [RCV000281448] Chr6:15533375 [GRCh38]
Chr6:15533606 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_032122.5(DTNBP1):c.255G>T (p.Ala85=) single nucleotide variant Hermansky-Pudlak syndrome [RCV000331614] Chr6:15627443 [GRCh38]
Chr6:15627674 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_032122.4(DTNBP1):c.*151_*152dup duplication Hermansky-Pudlak syndrome [RCV000302364] Chr6:15522822..15522823 [GRCh38]
Chr6:15523053..15523054 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_183040.2(DTNBP1):c.489-21dup duplication Hermansky-Pudlak syndrome [RCV000341025]|not specified [RCV000454441] Chr6:15593088..15593089 [GRCh38]
Chr6:15593319..15593320 [GRCh37]
Chr6:6p22.3
benign|uncertain significance
NM_183040.2(DTNBP1):c.668-14del deletion Hermansky-Pudlak syndrome [RCV000280371] Chr6:15524683 [GRCh38]
Chr6:15524914 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_032122.4(DTNBP1):c.*138A>G single nucleotide variant Hermansky-Pudlak syndrome [RCV000361698] Chr6:15522837 [GRCh38]
Chr6:15523068 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_032122.4(DTNBP1):c.1000A>C (p.Thr334Pro) single nucleotide variant Hermansky-Pudlak syndrome [RCV000381654] Chr6:15523031 [GRCh38]
Chr6:15523262 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_183040.2(DTNBP1):c.489-12_489-8del deletion Hermansky-Pudlak syndrome [RCV000306079] Chr6:15593089..15593093 [GRCh38]
Chr6:15593320..15593324 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_032122.5(DTNBP1):c.741G>A (p.Ser247=) single nucleotide variant Hermansky-Pudlak syndrome [RCV000334256] Chr6:15524596 [GRCh38]
Chr6:15524827 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_032122.5(DTNBP1):c.-159G>A single nucleotide variant Hermansky-Pudlak syndrome [RCV000371775] Chr6:15663028 [GRCh38]
Chr6:15663259 [GRCh37]
Chr6:6p22.3
uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:302272-18375047)x3 copy number gain See cases [RCV000446145] Chr6:302272..18375047 [GRCh37]
Chr6:6p25.3-22.3
pathogenic
GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)x3 copy number gain See cases [RCV000447409] Chr6:8269414..17402660 [GRCh37]
Chr6:6p24.3-22.3
likely pathogenic
NM_032122.5(DTNBP1):c.811+70G>T single nucleotide variant not provided [RCV000522757] Chr6:15524456 [GRCh38]
Chr6:15524687 [GRCh37]
Chr6:6p22.3
uncertain significance
GRCh37/hg19 6p24.1-22.3(chr6:12924014-15975708)x1 copy number loss See cases [RCV000448946] Chr6:12924014..15975708 [GRCh37]
Chr6:6p24.1-22.3
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_001271667.1(DTNBP1):c.772_773AG[2] (p.Glu259fs) microsatellite Hermansky-Pudlak syndrome 7 [RCV000778783]|not specified [RCV000501240] Chr6:15523011..15523012 [GRCh38]
Chr6:15523242..15523243 [GRCh37]
Chr6:6p22.3
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_032122.5(DTNBP1):c.790A>G (p.Thr264Ala) single nucleotide variant not specified [RCV000504406] Chr6:15524547 [GRCh38]
Chr6:15524778 [GRCh37]
Chr6:6p22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_183040.2(DTNBP1):c.355+10A>C single nucleotide variant not specified [RCV000502785] Chr6:15627333 [GRCh38]
Chr6:15627564 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_032122.5(DTNBP1):c.662G>A (p.Arg221Gln) single nucleotide variant not provided [RCV000956368]|not specified [RCV000500704] Chr6:15533245 [GRCh38]
Chr6:15533476 [GRCh37]
Chr6:6p22.3
likely benign
GRCh37/hg19 6p23-22.3(chr6:13693852-24225515)x1 copy number loss See cases [RCV000512269] Chr6:13693852..24225515 [GRCh37]
Chr6:6p23-22.3
pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3 copy number gain not provided [RCV000682629] Chr6:156974..21955964 [GRCh37]
Chr6:6p25.3-22.3
pathogenic
NM_032122.5(DTNBP1):c.286G>T (p.Glu96Ter) single nucleotide variant Idiopathic Pulmonary Fibrosis [RCV000677216] Chr6:15627412 [GRCh38]
Chr6:15627643 [GRCh37]
Chr6:6p22.3
uncertain significance
GRCh37/hg19 6p22.3(chr6:15569836-15670039)x1 copy number loss not provided [RCV000682650] Chr6:15569836..15670039 [GRCh37]
Chr6:6p22.3
uncertain significance
Single allele duplication not provided [RCV000677944] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_032122.5(DTNBP1):c.768G>T (p.Leu256=) single nucleotide variant not provided [RCV000898616] Chr6:15524569 [GRCh38]
Chr6:15524800 [GRCh37]
Chr6:6p22.3
benign
NM_032122.5(DTNBP1):c.12C>T (p.Thr4=) single nucleotide variant not provided [RCV000914657] Chr6:15662858 [GRCh38]
Chr6:15663089 [GRCh37]
Chr6:6p22.3
likely benign
NM_032122.5(DTNBP1):c.162-6T>C single nucleotide variant not provided [RCV000944105] Chr6:15637810 [GRCh38]
Chr6:15638041 [GRCh37]
Chr6:6p22.3
likely benign
GRCh37/hg19 6p22.3(chr6:15582919-15635697)x1 copy number loss not provided [RCV001005779] Chr6:15582919..15635697 [GRCh37]
Chr6:6p22.3
uncertain significance
NM_032122.4(DTNBP1):c.1015_1016AG[1] (p.Glu340fs) microsatellite Hermansky-Pudlak syndrome 7 [RCV000778784]|Hermansky-Pudlak syndrome [RCV000851631] Chr6:15523011..15523014 [GRCh38]
Chr6:15523242..15523245 [GRCh37]
Chr6:6p22.3
pathogenic|uncertain significance
NM_032122.5(DTNBP1):c.668-5C>T single nucleotide variant not provided [RCV000916623] Chr6:15524674 [GRCh38]
Chr6:15524905 [GRCh37]
Chr6:6p22.3
likely benign
GRCh37/hg19 6p23-22.3(chr6:13910125-22000204)x1 copy number loss not provided [RCV000848884] Chr6:13910125..22000204 [GRCh37]
Chr6:6p23-22.3
pathogenic
GRCh37/hg19 6p24.1-22.3(chr6:13248587-18083552)x3 copy number gain not provided [RCV000849796] Chr6:13248587..18083552 [GRCh37]
Chr6:6p24.1-22.3
uncertain significance
GRCh37/hg19 6p22.3(chr6:15385821-15539660)x3 copy number gain not provided [RCV000847550] Chr6:15385821..15539660 [GRCh37]
Chr6:6p22.3
uncertain significance
GRCh37/hg19 6p23-22.3(chr6:14715955-17223929)x3 copy number gain not provided [RCV000849040] Chr6:14715955..17223929 [GRCh37]
Chr6:6p23-22.3
uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3 copy number gain not provided [RCV000848108] Chr6:156974..23221621 [GRCh37]
Chr6:6p25.3-22.3
pathogenic
NM_032122.5(DTNBP1):c.387G>A (p.Glu129=) single nucleotide variant not provided [RCV000931419] Chr6:15615368 [GRCh38]
Chr6:15615599 [GRCh37]
Chr6:6p22.3
likely benign
NM_032122.5(DTNBP1):c.234C>T (p.Ser78=) single nucleotide variant not provided [RCV000889451] Chr6:15627464 [GRCh38]
Chr6:15627695 [GRCh37]
Chr6:6p22.3
benign
GRCh37/hg19 6p23-22.3(chr6:14590996-16067315)x3 copy number gain not provided [RCV001258891] Chr6:14590996..16067315 [GRCh37]
Chr6:6p23-22.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17328 AgrOrtholog
COSMIC DTNBP1 COSMIC
Ensembl Genes ENSG00000047579 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000341680 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000344718 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000348183 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000421797 UniProtKB/TrEMBL
  ENSP00000424202 UniProtKB/TrEMBL
  ENSP00000424357 UniProtKB/TrEMBL
  ENSP00000424685 UniProtKB/TrEMBL
  ENSP00000425495 UniProtKB/TrEMBL
  ENSP00000427239 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000427473 UniProtKB/TrEMBL
  ENSP00000481997 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000338950 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000344537 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000355917 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000462989 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000506844 UniProtKB/TrEMBL
  ENST00000509674 UniProtKB/TrEMBL
  ENST00000510395 UniProtKB/TrEMBL
  ENST00000511762 UniProtKB/TrEMBL
  ENST00000513680 UniProtKB/TrEMBL
  ENST00000515875 UniProtKB/TrEMBL
  ENST00000622898 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000047579 GTEx
HGNC ID HGNC:17328 ENTREZGENE
Human Proteome Map DTNBP1 Human Proteome Map
InterPro Dysbindin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84062 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 84062 ENTREZGENE
OMIM 607145 OMIM
  614076 OMIM
PANTHER PTHR16294 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Dysbindin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27512 PharmGKB
UniProt A0A024R015_HUMAN UniProtKB/TrEMBL
  A0A087WYP9 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z5U8 ENTREZGENE, UniProtKB/TrEMBL
  A6NFV8 ENTREZGENE, UniProtKB/TrEMBL
  D6RAR7_HUMAN UniProtKB/TrEMBL
  D6RAX1_HUMAN UniProtKB/TrEMBL
  D6RB80_HUMAN UniProtKB/TrEMBL
  D6RCT8_HUMAN UniProtKB/TrEMBL
  D6RID1_HUMAN UniProtKB/TrEMBL
  D6RJC6 ENTREZGENE, UniProtKB/TrEMBL
  DTBP1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K3V3 UniProtKB/Swiss-Prot
  Q5THY3 UniProtKB/Swiss-Prot
  Q5THY4 UniProtKB/Swiss-Prot
  Q96NV2 UniProtKB/Swiss-Prot
  Q9H0U2 UniProtKB/Swiss-Prot
  Q9H3J5 UniProtKB/Swiss-Prot