DTNBP1 (dystrobrevin binding protein 1)

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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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	6	15,522,807 - 15,663,058 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p13 Ensembl	6	15,522,801 - 15,663,058 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	6	15,522,803 - 15,663,058 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	6	15,523,032 - 15,663,289 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
GRCh37	6	15,523,038 - 15,663,289 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	15,631,017 - 15,771,250 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	6	15,631,019 - 15,771,250	NCBI
Celera	6	16,760,985 - 16,901,244 (-)	NCBI
Cytogenetic Map	6	p22.3	NCBI
HuRef	6	15,470,266 - 15,609,971 (-)	NCBI		HuRef
CHM1_1	6	15,525,522 - 15,665,696 (-)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

disease of mental health (EXP)

Hermansky-Pudlak syndrome (EXP,IAGP,ISO)

Hermansky-Pudlak syndrome 1 (IAGP)

Hermansky-Pudlak syndrome 7 (IAGP)

idiopathic pulmonary fibrosis (IAGP)

platelet storage pool deficiency (ISS)

schizophrenia (EXP,IAGP)

temporal lobe epilepsy (IEP,ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP)

1,2-dichloroethane (ISO)

1,2-dimethylhydrazine (ISO)

1,3-dinitrobenzene (ISO)

17alpha-ethynylestradiol (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

antirheumatic drug (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (ISO)

butanal (EXP)

ciguatoxin CTX1B (ISO)

clozapine (EXP)

copper(II) sulfate (EXP)

cyclosporin A (EXP)

dibutyl phthalate (ISO)

dioxygen (ISO)

dorsomorphin (EXP)

enzyme inhibitor (EXP)

haloperidol (EXP)

methyl methanesulfonate (EXP)

oxaliplatin (ISO)

paracetamol (ISO)

potassium chromate (EXP)

SB 431542 (EXP)

serpentine asbestos (EXP)

silicon dioxide (ISO)

sodium arsenate (ISO)

tamoxifen (ISO)

tetrachloroethene (ISO)

topotecan (ISO)

trichostatin A (EXP)

Triptolide (ISO)

valproic acid (EXP,ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

actin cytoskeleton reorganization (ISO,ISS)

anterograde axonal transport (ISO,ISS)

anterograde synaptic vesicle transport (IBA,ISO,ISS)

blood coagulation (IEA,ISO)

brain development (ISO)

dendrite morphogenesis (IEA,ISO)

melanosome organization (NAS)

negative regulation of dendritic spine morphogenesis (ISO)

negative regulation of neuron death (ISO)

negative regulation of protein binding (IEA,ISO)

negative regulation of protein kinase activity (IBA)

negative regulation of protein serine/threonine kinase activity (IEA,ISO)

neuron projection development (IBA,IDA)

neuron projection morphogenesis (ISO,ISS)

organelle organization (ISO)

platelet dense granule organization (IBA,ISO)

positive regulation of gene expression (ISO,ISS)

positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization (ISO)

positive regulation of neurotransmitter secretion (ISO,ISS)

positive regulation of protein phosphorylation (ISO)

positive regulation of receptor internalization (ISO)

post-Golgi vesicle-mediated transport (TAS)

regulation of dopamine receptor signaling pathway (ISO,ISS)

regulation of dopamine secretion (ISO,ISS)

regulation of JUN kinase activity (IEA,ISO)

regulation of synaptic vesicle exocytosis (IBA,ISO)

retina development in camera-type eye (ISO)

Cellular Component

asymmetric synapse (ISO)

axon (ISO,ISS)

axon cytoplasm (IEA)

BLOC-1 complex (IBA,IDA,ISO)

cytoplasm (IEA,ISO,ISS)

cytosol (TAS)

dendritic spine (ISO,ISS)

endoplasmic reticulum membrane (ISO,ISS)

endosome membrane (IEA)

glutamatergic synapse (IEA,ISO)

growth cone (ISO,ISS)

hippocampal mossy fiber to CA3 synapse (IEA,ISO)

melanosome membrane (IEA)

microtubule cytoskeleton (IDA)

midbody (IDA)

neuron projection (IBA,IDA)

neuronal cell body (ISO)

nucleus (ISO,ISS)

plasma membrane (IBA,ISO)

postsynaptic density (IDA,ISO)

postsynaptic membrane (IEA)

sarcolemma (ISO,ISS)

sarcoplasm (IEA,ISO)

Schaffer collateral - CA1 synapse (IEA,ISO)

synaptic vesicle membrane (IBA,IDA,ISO,ISS)

Molecular Function

protein binding (IPI,ISO)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Albinism (IAGP)

Autosomal recessive inheritance (IAGP)

Bruising susceptibility (IAGP)

Epistaxis (IAGP)

Impaired platelet aggregation (IAGP)

Nystagmus (IAGP)

Ocular albinism (IAGP)

Reduced visual acuity (IAGP)

References

References - curated


1.	GOA_HUMAN data from the GO Consortium
2.	Li W, etal., Nat Genet. 2003 Sep;35(1):84-9. Epub 2003 Aug 17.
3.	Numakawa T, etal., Hum Mol Genet. 2004 Nov 1;13(21):2699-708. Epub 2004 Sep 2.
4.	OMIM Disease Annotation Pipeline
5.	Rangrez AY, etal., J Cell Biol. 2013 Nov 25;203(4):643-56. doi: 10.1083/jcb.201303052.
6.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7.	RGD automated import pipeline for gene-chemical interactions
8.	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9.	Schwab SG, etal., Am J Hum Genet 2003 Jan;72(1):185-90. Epub 2002 Dec 9.
10.	Zhang Y, etal., Synapse. 2012 Jul;66(7):622-9. doi: 10.1002/syn.21548. Epub 2012 Mar 30.

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	6	15,522,807 - 15,663,058 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p13 Ensembl	6	15,522,801 - 15,663,058 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	6	15,522,803 - 15,663,058 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	6	15,523,032 - 15,663,289 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
GRCh37	6	15,523,038 - 15,663,289 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	15,631,017 - 15,771,250 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	6	15,631,019 - 15,771,250	NCBI
Celera	6	16,760,985 - 16,901,244 (-)	NCBI
Cytogenetic Map	6	p22.3	NCBI
HuRef	6	15,470,266 - 15,609,971 (-)	NCBI		HuRef
CHM1_1	6	15,525,522 - 15,665,696 (-)	NCBI		CHM1_1

Dtnbp1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	13	45,075,552 - 45,155,614 (-)	NCBI	GRCm39		mm39
GRCm38	13	44,922,079 - 45,002,096 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	13	44,922,075 - 45,002,147 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	13	45,017,448 - 45,097,465 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	13	44,933,051 - 45,013,068 (-)	NCBI			mm8
Celera	13	45,997,733 - 46,077,631 (-)	NCBI		Celera
Cytogenetic Map	13	A5	NCBI
cM Map	13	21.73	NCBI

Dtnbp1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	17	19,685,218 - 19,776,668 (+)	NCBI
Rnor_6.0 Ensembl	17	20,090,246 - 20,182,206 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	17	20,090,136 - 20,182,332 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	17	22,105,208 - 22,193,087 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	17	19,386,624 - 19,477,026 (+)	NCBI		Celera
Cytogenetic Map	17	p14	NCBI

Dtnbp1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955590	281,704 - 386,189 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955590	276,143 - 382,812 (+)	NCBI	ChiLan1.0	ChiLan1.0

DTNBP1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	6	15,741,698 - 15,887,039 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	6	15,741,698 - 15,887,256 (-)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	6	15,377,263 - 15,523,317 (-)	NCBI	Mhudiblu_PPA_v0		panPan3

DTNBP1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1 Ensembl	35	14,738,029 - 14,864,169 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
CanFam3.1	35	14,738,025 - 14,862,609 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1

Dtnbp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
SpeTri2.0	NW_004936552	1,787,687 - 1,926,516 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

DTNBP1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	11,600,792 - 11,748,548 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	11,602,470 - 11,720,156 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	12,191,535 - 12,309,282 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

DTNBP1
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	17	56,500,523 - 56,650,925 (+)	NCBI
ChlSab1.1 Ensembl	17	56,500,574 - 56,651,491 (+)	Ensembl

Dtnbp1
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624756	10,810,368 - 10,932,801 (+)	NCBI

Position Markers

RH94110

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	15,523,164 - 15,523,318	UniSTS	GRCh37
Build 36	6	15,631,143 - 15,631,297	RGD	NCBI36
Celera	6	16,761,117 - 16,761,271	RGD
Cytogenetic Map	6	p22.3	UniSTS
HuRef	6	15,470,398 - 15,470,552	UniSTS
GeneMap99-GB4 RH Map	6	58.09	UniSTS

RH103603

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	15,547,252 - 15,547,432	UniSTS	GRCh37
Build 36	6	15,655,231 - 15,655,411	RGD	NCBI36
Celera	6	16,785,205 - 16,785,385	RGD
Cytogenetic Map	6	p22.3	UniSTS
HuRef	6	15,494,487 - 15,494,667	UniSTS
GeneMap99-GB4 RH Map	6	65.64	UniSTS

SHGC-84219

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	15,571,404 - 15,571,700	UniSTS	GRCh37
Build 36	6	15,679,383 - 15,679,679	RGD	NCBI36
Celera	6	16,809,357 - 16,809,653	RGD
Cytogenetic Map	6	p22.3	UniSTS
HuRef	6	15,518,649 - 15,518,945	UniSTS
TNG Radiation Hybrid Map	6	7258.0	UniSTS

RH46674

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	15,601,320 - 15,601,463	UniSTS	GRCh37
Build 36	6	15,709,299 - 15,709,442	RGD	NCBI36
Celera	6	16,839,273 - 16,839,416	RGD
Cytogenetic Map	6	p22.3	UniSTS
HuRef	6	15,548,617 - 15,548,760	UniSTS
GeneMap99-GB4 RH Map	6	63.15	UniSTS

DTNBP1__4787

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	15,523,764 - 15,524,518	UniSTS	GRCh37
Build 36	6	15,631,743 - 15,632,497	RGD	NCBI36
Celera	6	16,761,717 - 16,762,471	RGD
HuRef	6	15,470,998 - 15,471,752	UniSTS

RH48727

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	15,661,141 - 15,661,318	UniSTS	GRCh37
Build 36	6	15,769,120 - 15,769,297	RGD	NCBI36
Celera	6	16,899,096 - 16,899,273	RGD
Cytogenetic Map	6	p22.3	UniSTS
HuRef	6	15,607,823 - 15,608,000	UniSTS
GeneMap99-GB4 RH Map	6	67.91	UniSTS

WI-18297

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	15,601,378 - 15,601,515	UniSTS	GRCh37
Build 36	6	15,709,357 - 15,709,494	RGD	NCBI36
Celera	6	16,839,331 - 16,839,468	RGD
Cytogenetic Map	6	p22.3	UniSTS
HuRef	6	15,548,675 - 15,548,812	UniSTS
GeneMap99-GB4 RH Map	6	58.09	UniSTS
Whitehead-RH Map	6	89.7	UniSTS
NCBI RH Map	6	146.6	UniSTS

D6S89

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	6	p22.3	UniSTS

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

3338

1221

2967

306

1274

1534

938

2059

Low

423

1117

749

469

484

395

1019

976

767

113

186

266

729

Below cutoff

View RNA-SEQ Expression Data

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 Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	6	15,523,563 - 15,662,975 (-)	Ensembl

RefSeq Acc Id:

ENST00000344537 ⟹ ENSP00000341680

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	6	15,522,807 - 15,663,028 (-)	Ensembl

RefSeq Acc Id:

ENST00000355917 ⟹ ENSP00000348183

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	6	15,522,810 - 15,663,058 (-)	Ensembl

RefSeq Acc Id:

ENST00000462989 ⟹ ENSP00000427239

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	6	15,522,807 - 15,586,015 (-)	Ensembl

RefSeq Acc Id:

ENST00000506844 ⟹ ENSP00000424202

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	6	15,523,985 - 15,662,920 (-)	Ensembl

RefSeq Acc Id:

ENST00000509674 ⟹ ENSP00000421797

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	6	15,523,055 - 15,548,362 (-)	Ensembl

RefSeq Acc Id:

ENST00000510395 ⟹ ENSP00000424685

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	6	15,522,810 - 15,663,007 (-)	Ensembl

RefSeq Acc Id:

ENST00000511762 ⟹ ENSP00000427473

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	6	15,524,540 - 15,663,020 (-)	Ensembl

RefSeq Acc Id:

ENST00000513680 ⟹ ENSP00000424357

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	6	15,522,843 - 15,663,058 (-)	Ensembl

RefSeq Acc Id:

ENST00000514651

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	6	15,524,112 - 15,533,547 (-)	Ensembl

RefSeq Acc Id:

ENST00000515875 ⟹ ENSP00000425495

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	6	15,522,837 - 15,663,030 (-)	Ensembl

RefSeq Acc Id:

ENST00000622898 ⟹ ENSP00000481997

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	6	15,522,810 - 15,663,058 (-)	Ensembl

RefSeq Acc Id:

NM_001271667 ⟹ NP_001258596

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	15,522,807 - 15,663,028 (-)	NCBI
GRCh37	6	15,523,032 - 15,663,289 (-)	NCBI
HuRef	6	15,470,266 - 15,609,971 (-)	NCBI
CHM1_1	6	15,525,528 - 15,665,696 (-)	NCBI

Sequence:

show sequence

CGCGCGCGGGGCGGGAACGCGGAAGGGGCTGGGGTTGCGGCGCGGCGGCGAGGACCAGACCGGG
GGCGGGGCCGGTAGTGGGAGTGCGGGGCGCGCGGTGACAGCGCGGGGTTGGCGGCGTGGGACCC
AGGGGGCGACAGAGGCAGCAGCAGCCCGAGGCCTGAGGAGAGGAGACCGGCGGCGGCGGCAATG
CTGGAGACCCTTCGCGAGCGGCTGCTGAGCGTGCAGCAGGATTTCACCTCCGGGCTGAAGACTT
TAAGTGACAAGTCAAGAGAAGCAAAAGTGAAAAGCAAACCCAGTTGGCTAAATCAAGAACAGTT
TTAATAAGTGTTTCTTTTGGGCAGGACTGTTCCATTTTTGCCAAAGTACTCTGCTGGATTAGAA
TTACTTAGCAGGTATGAGGATACATGGGCTGCACTTCACAGAAGAGCCAAAGACTGTGCAAGTG
CTGGAGAGCTGGTGGATAGCGAGGTGGTCATGCTTTCTGCGCACTGGGAGAAGAAAAAGACAAG
CCTCGTGGAGCTGCAAGAGCAGCTCCAGCAGCTCCCAGCTTTAATCGCAGACTTAGAATCCATG
ACAGCAAATCTGACTCATTTAGAGGCGAGTTTTGAGGAGGTAGAGAACAACCTGCTGCATCTGG
AAGACTTATGTGGGCAGTGTGAATTAGAAAGATGCAAACATATGCAGTCCCAGCAACTGGAGAA
TTACAAGAAAAATAAGAGGAAGGAACTTGAAACCTTCAAAGCTGAACTAGATGCAGAGCACGCC
CAGAAGGTCCTGGAAATGGAGCACACCCAGCAAATGAAGCTGAAGGAGCGGCAGAAGTTTTTTG
AGGAAGCCTTCCAGCAGGACATGGAGCAGTACCTGTCCACTGGCTACCTGCAGATTGCAGAGCG
GCGAGAGCCCATAGGCAGCATGTCATCCATGGAAGTGAACGTGGACATGCTGGAGCAGATGGAC
CTGATGGACATATCGGACCAGGAGGCCCTGGACGTCTTCCTGAACTCTGGAGGAGAAGAGAACA
CTGTGCTGTCCCCCGCCTTAGGGCCTGAATCCAGTACCTGTCAGAATGAGATTACCCTCCAGGT
TCCAAATCCCTCAGAATTAAGAGCCAAGCCACCTTCTTCTTCCTCCACCTGCACCGACTCGGCC
ACCCGGGACATCAGTGAGGGTGGGGAGTCCCCCGTTGTTCAGTCCGATGAGGAGGAAGTTCAGG
TGGACACTGCCCTGGCCACATCACACACTGACAGAGAGGCCACTCCGGATGGTGGTGAGGACAG
CGACTCTTAAATTGGGACATGGGCGTTGTCTGGCCACACTGGAATCCAGTTTTGGCTGTATGCG
GAATTCCACCTGGAAAGCCAGGTTGTTTTATAGAGGTTCTTGATTTTTACATAATTGCCAATAA
TGTGTGAGAAACTTAAAGAACAGCTAACAATAAAGTGTGAGGACGGTAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001271668 ⟹ NP_001258597

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	15,522,807 - 15,663,028 (-)	NCBI
GRCh37	6	15,523,032 - 15,663,289 (-)	NCBI
HuRef	6	15,470,266 - 15,609,971 (-)	NCBI
CHM1_1	6	15,525,528 - 15,665,696 (-)	NCBI

Sequence:

show sequence

CGCGCGCGGGGCGGGAACGCGGAAGGGGCTGGGGTTGCGGCGCGGCGGCGAGGACCAGACCGGG
GGCGGGGCCGGTAGTGGGAGTGCGGGGCGCGCGGTGACAGCGCGGGGTTGGCGGCGTGGGACCC
AGGGGGCGACAGAGGCAGCAGCAGCCCGAGGCCTGAGGAGAGGAGACCGGCGGCGGCGGCAATG
CTGGAGACCCTTCGCGAGCGGCTGCTGAGCGTGCAGCAGGATTTCACCTCCGGGCTGAAGACTT
TAAGTGACAAGTCAAGAGAAGCAAAAGTGAAAAGCAAACCCAGGTATGAGGATACATGGGCTGC
ACTTCACAGAAGAGCCAAAGACTGTGCAAGTGCTGGAGAGCTGGTGGATAGCGAGGTGGTCATG
CTTTCTGCGCACTGGGAGAAGAAAAAGACAAGCCTCGTGGAGCTGCAAGAGCAGCTCCAGCAGC
TCCCAGCTTTAATCGCAGACTTAGAATCCATGACAGCAAATCTGACTCATTTAGAGGCGAGTTT
TGAGGAGGTAGAGAACAACCTGCTGCATCTGGAAGACTTATGTGGGCAGTGTGAATTAGAAAGA
TGCAAACATATGCAGTCCCAGCAACTGGAGAATTACAAGAAAAATAAGAGGAAGGAACTTGAAA
CCTTCAAAGCTGAACTAGATGCAGAGCACGCCCAGAAGGTCCTGGAAATGGAGCACACCCAGCA
AATGAAGCTGAAGGAGCGGCAGAAGTTTTTTGAGGAAGCCTTCCAGCAGGACATGGAGCAGTAC
CTGTCCACTGGCTACCTGCAGATTGCAGAGCGGCGAGAGCCCATAGGCAGCATGTCATCCATGG
AAGTGAACGTGGACATGCTGGAGCAGATGGACCTGATGGACATATCGGACCAGGAGGCCCTGGA
CGTCTTCCTGAACTCTGGAGGAGAAGAGAACACTGTGCTGTCCCCCGCCTTAGGGCCTGAATCC
AGTACCTGTCAGAATGAGATTACCCTCCAGGTTCCAAATCCCTCAGAATTAAGAGCCAAGCCAC
CTTCTTCTTCCTCCACCTGCACCGACTCGGCCACCCGGGACATCAGTGAGGGTGGGGAGTCCCC
CGTTGTTCAGTCCGATGAGGAGGAAGTTCAGGTGGACACTGCCCTGGCCACATCACACACTGAC
AGAGAGGCCACTCCGGATGGTGGTGAGGACAGCGACTCTTAAATTGGGACATGGGCGTTGTCTG
GCCACACTGGAATCCAGTTTTGGCTGTATGCGGAATTCCACCTGGAAAGCCAGGTTGTTTTATA
GAGGTTCTTGATTTTTACATAATTGCCAATAATGTGTGAGAAACTTAAAGAACAGCTAACAATA
AAGTGTGAGGACGGTAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001271669 ⟹ NP_001258598

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	15,522,807 - 15,663,028 (-)	NCBI
GRCh37	6	15,523,032 - 15,663,289 (-)	NCBI
HuRef	6	15,470,266 - 15,609,971 (-)	NCBI
CHM1_1	6	15,525,528 - 15,665,696 (-)	NCBI

Sequence:

show sequence

CGCGCGCGGGGCGGGAACGCGGAAGGGGCTGGGGTTGCGGCGCGGCGGCGAGGACCAGACCGGG
GGCGGGGCCGGTAGTGGGAGTGCGGGGCGCGCGGTGACAGCGCGGGGTTGGCGGCGTGGGACCC
AGGGGGCGACAGAGGCAGCAGCAGCCCGAGGCCTGAGGAGAGGAGACCGGCGGCGGCGGCAATG
CTGGAGACCCTTCGCGAGCGGCTGCTGAGCGTGCAGCAGGATTTCACCTCCGGGTATGAGGATA
CATGGGCTGCACTTCACAGAAGAGCCAAAGACTGTGCAAGTGCTGGAGAGCTGGTGGATAGCGA
GGTGGTCATGCTTTCTGCGCACTGGGAGAAGAAAAAGACAAGCCTCGTGGAGCTGCAAGAGCAG
CTCCAGCAGCTCCCAGCTTTAATCGCAGACTTAGAATCCATGACAGCAAATCTGACTCATTTAG
AGGCGAGTTTTGAGGAGGTAGAGAACAACCTGCTGCATCTGGAAGACTTATGTGGGCAGTGTGA
ATTAGAAAGATGCAAACATATGCAGTCCCAGCAACTGGAGAATTACAAGAAAAATAAGAGGAAG
GAACTTGAAACCTTCAAAGCTGAACTAGATGCAGAGCACGCCCAGAAGGTCCTGGAAATGGAGC
ACACCCAGCAAATGAAGCTGAAGGAGCGGCAGAAGTTTTTTGAGGAAGCCTTCCAGCAGGACAT
GGAGCAGTACCTGTCCACTGGCTACCTGCAGATTGCAGAGCGGCGAGAGCCCATAGGCAGCATG
TCATCCATGGAAGTGAACGTGGACATGCTGGAGCAGATGGACCTGATGGACATATCGGACCAGG
AGGCCCTGGACGTCTTCCTGAACTCTGGAGGAGAAGAGAACACTGTGCTGTCCCCCGCCTTAGG
GCCTGAATCCAGTACCTGTCAGAATGAGATTACCCTCCAGGTTCCAAATCCCTCAGAATTAAGA
GCCAAGCCACCTTCTTCTTCCTCCACCTGCACCGACTCGGCCACCCGGGACATCAGTGAGGGTG
GGGAGTCCCCCGTTGTTCAGTCCGATGAGGAGGAAGTTCAGGTGGACACTGCCCTGGCCACATC
ACACACTGACAGAGAGGCCACTCCGGATGGTGGTGAGGACAGCGACTCTTAAATTGGGACATGG
GCGTTGTCTGGCCACACTGGAATCCAGTTTTGGCTGTATGCGGAATTCCACCTGGAAAGCCAGG
TTGTTTTATAGAGGTTCTTGATTTTTACATAATTGCCAATAATGTGTGAGAAACTTAAAGAACA
GCTAACAATAAAGTGTGAGGACGGTAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_032122 ⟹ NP_115498

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	15,522,807 - 15,663,028 (-)	NCBI
GRCh37	6	15,523,032 - 15,663,289 (-)	ENTREZGENE
Build 36	6	15,631,017 - 15,771,250 (-)	NCBI Archive
HuRef	6	15,470,266 - 15,609,971 (-)	ENTREZGENE
CHM1_1	6	15,525,522 - 15,665,696 (-)	NCBI

Sequence:

show sequence

CGCGCGCGGGGCGGGAACGCGGAAGGGGCTGGGGTTGCGGCGCGGCGGCGAGGACCAGACCGGG
GGCGGGGCCGGTAGTGGGAGTGCGGGGCGCGCGGTGACAGCGCGGGGTTGGCGGCGTGGGACCC
AGGGGGCGACAGAGGCAGCAGCAGCCCGAGGCCTGAGGAGAGGAGACCGGCGGCGGCGGCAATG
CTGGAGACCCTTCGCGAGCGGCTGCTGAGCGTGCAGCAGGATTTCACCTCCGGGCTGAAGACTT
TAAGTGACAAGTCAAGAGAAGCAAAAGTGAAAAGCAAACCCAGGACTGTTCCATTTTTGCCAAA
GTACTCTGCTGGATTAGAATTACTTAGCAGGTATGAGGATACATGGGCTGCACTTCACAGAAGA
GCCAAAGACTGTGCAAGTGCTGGAGAGCTGGTGGATAGCGAGGTGGTCATGCTTTCTGCGCACT
GGGAGAAGAAAAAGACAAGCCTCGTGGAGCTGCAAGAGCAGCTCCAGCAGCTCCCAGCTTTAAT
CGCAGACTTAGAATCCATGACAGCAAATCTGACTCATTTAGAGGCGAGTTTTGAGGAGGTAGAG
AACAACCTGCTGCATCTGGAAGACTTATGTGGGCAGTGTGAATTAGAAAGATGCAAACATATGC
AGTCCCAGCAACTGGAGAATTACAAGAAAAATAAGAGGAAGGAACTTGAAACCTTCAAAGCTGA
ACTAGATGCAGAGCACGCCCAGAAGGTCCTGGAAATGGAGCACACCCAGCAAATGAAGCTGAAG
GAGCGGCAGAAGTTTTTTGAGGAAGCCTTCCAGCAGGACATGGAGCAGTACCTGTCCACTGGCT
ACCTGCAGATTGCAGAGCGGCGAGAGCCCATAGGCAGCATGTCATCCATGGAAGTGAACGTGGA
CATGCTGGAGCAGATGGACCTGATGGACATATCGGACCAGGAGGCCCTGGACGTCTTCCTGAAC
TCTGGAGGAGAAGAGAACACTGTGCTGTCCCCCGCCTTAGGGCCTGAATCCAGTACCTGTCAGA
ATGAGATTACCCTCCAGGTTCCAAATCCCTCAGAATTAAGAGCCAAGCCACCTTCTTCTTCCTC
CACCTGCACCGACTCGGCCACCCGGGACATCAGTGAGGGTGGGGAGTCCCCCGTTGTTCAGTCC
GATGAGGAGGAAGTTCAGGTGGACACTGCCCTGGCCACATCACACACTGACAGAGAGGCCACTC
CGGATGGTGGTGAGGACAGCGACTCTTAAATTGGGACATGGGCGTTGTCTGGCCACACTGGAAT
CCAGTTTTGGCTGTATGCGGAATTCCACCTGGAAAGCCAGGTTGTTTTATAGAGGTTCTTGATT
TTTACATAATTGCCAATAATGTGTGAGAAACTTAAAGAACAGCTAACAATAAAGTGTGAGGACG
GTAAACTGAGAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_183040 ⟹ NP_898861

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	15,523,563 - 15,663,058 (-)	NCBI
GRCh37	6	15,523,032 - 15,663,289 (-)	ENTREZGENE
Build 36	6	15,631,769 - 15,771,250 (-)	NCBI Archive
HuRef	6	15,470,266 - 15,609,971 (-)	ENTREZGENE
CHM1_1	6	15,526,299 - 15,665,696 (-)	NCBI

Sequence:

show sequence

CGCGCGCGGGGCGGGAACGCGGAAGGGGCTGGGGTTGCGGCGCGGCGGCGAGGACCAGACCGGG
GGCGGGGCCGGTAGTGGGAGTGCGGGGCGCGCGGTGACAGCGCGGGGTTGGCGGCGTGGGACCC
AGGGGGCGACAGAGGCAGCAGCAGCCCGAGGCCTGAGGAGAGGAGACCGGCGGCGGCGGCAATG
CTGGAGACCCTTCGCGAGCGGCTGCTGAGCGTGCAGCAGGATTTCACCTCCGGGCTGAAGACTT
TAAGTGACAAGTCAAGAGAAGCAAAAGTGAAAAGCAAACCCAGGACTGTTCCATTTTTGCCAAA
GTACTCTGCTGGATTAGAATTACTTAGCAGGTATGAGGATACATGGGCTGCACTTCACAGAAGA
GCCAAAGACTGTGCAAGTGCTGGAGAGCTGGTGGATAGCGAGGTGGTCATGCTTTCTGCGCACT
GGGAGAAGAAAAAGACAAGCCTCGTGGAGCTGCAAGAGCAGCTCCAGCAGCTCCCAGCTTTAAT
CGCAGACTTAGAATCCATGACAGCAAATCTGACTCATTTAGAGGCGAGTTTTGAGGAGGTAGAG
AACAACCTGCTGCATCTGGAAGACTTATGTGGGCAGTGTGAATTAGAAAGATGCAAACATATGC
AGTCCCAGCAACTGGAGAATTACAAGAAAAATAAGAGGAAGGAACTTGAAACCTTCAAAGCTGA
ACTAGATGCAGAGCACGCCCAGAAGGTCCTGGAAATGGAGCACACCCAGCAAATGAAGCTGAAG
GAGCGGCAGAAGTTTTTTGAGGAAGCCTTCCAGCAGGACATGGAGCAGTACCTGTCCACTGGCT
ACCTGCAGATTGCAGAGCGGCGAGAGCCCATAGGCAGCATGTCATCCATGGAAGTGAACGTGGA
CATGCTGGAGCAGATGGACCTGATGGACATATCGGACCAGGAGGCCCTGGACGTCTTCCTGAAC
TCTGGAGGAGAAGAGAACACTGTGCTGTCCCCCGCCTTAGGTAGGGTTGACAAACTTGCATTAG
CTGAACCAGGGCAGTATCGATGCCACTCCCCTCCAAAGGTGAGACGTGAGAACCATCTGCCAGT
CACTTACGCATAAACCCCCAAGCTCACAGCCAGCTCCTGGCTCCCTAACCCCACGGTTCCACAC
GGCTGTGTGGCAGCTGCAACAGTGGTGTGGTTCCGTCATGAATTCTTCTCAAAGATTTGACATG
CTCCACTCCGGTAACTTTGGTGAGTTGAGAGCTTTCTTGTTTGTTTTCCCTCCTTTACCACCCA
GAAATCCATTTGAGTCTGCTCCTTGTGGTTAAGGACTGGCGTTTGCAGGGAGGTGCGGACTCTC
CTGCGGGGCTCACGGGAAACTCTTCCCTCTTCGTGCGACAGGCATTTAGGGGCGTGCCTGCCAT
GGGCAAAGCCATGGTGTGTGTTCAGCTCTTGGCCTGTGTTGTAAACTTAGTTGCACTTCAGTTC
CTTTCATCCCTTCACAAAATTTTGTTTCACATTCATGCAGCAAATATGGGCTGAGGTGCCAGAC
CTGTACCTGGGCTTGGTGCGTTTCAAATTTCAGACCAGTTCTTTGGGCTGGGTCAAGGCAAAGC
TCAGTCGTCCCAGCAGCACCTCAGCCATCTGTAGAAGGTTCTACCATTACCACGGTTTCAGCTT
CCTCTAAACTTCTCACCCGCTTCTCCTGGCAATCTGTCAGAACGGTGTCATCCTGGGGAAGAGA
AGGAGCTTGGGTGCATTTGCCCTCATCCTGAGAAGGCCAGAATACTGGAGACCAGCGTGAACCC
TCACCCAGAGTCAGGGGAAGATTTAGAAACAGTGACACCTGCATATAGAATTTTGATTCCTTGA
AGAGCCTATTTAGTTCCATAAAATTGGAGAACTGCTGAAGGTCAGTAATTCCGACTTTCTCAGC
AGTGGTGTCTCTGAATTACTGCAAAGGGTAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NR_036448

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	15,523,581 - 15,663,028 (-)	NCBI
GRCh37	6	15,523,032 - 15,663,289 (-)	ENTREZGENE
HuRef	6	15,470,266 - 15,609,971 (-)	ENTREZGENE
CHM1_1	6	15,526,299 - 15,665,696 (-)	NCBI

Sequence:

show sequence

CGCGCGCGGGGCGGGAACGCGGAAGGGGCTGGGGTTGCGGCGCGGCGGCGAGGACCAGACCGGG
GGCGGGGCCGGTAGTGGGAGTGCGGGGCGCGCGGTGACAGCGCGGGGTTGGCGGCGTGGGACCC
AGGGGGCGACAGAGGCAGCAGCAGCCCGAGGCCTGAGGAGAGGAGACCGGCGGCGGCGGCAATG
CTGGAGACCCTTCGCGAGCGGCTGCTGAGCGTGCAGCAGGATTTCACCTCCGGGTCACTTTCAG
CTGACAAACCACTGGACTGTCAGTGTGTGCCATTAGCCTGTCACCTGGTGGAGAAACAACTCAT
CTCCAAGTGATGTCAGTCTCCCAGTAGACCCGGACCTCTAGTGCCTGATGTTCACTTTCTTCAG
GCTGAAGACTTTAAGTGACAAGTCAAGAGAAGCAAAAGTGAAAAGCAAACCCAGGACTGTTCCA
TTTTTGCCAAAGTACTCTGCTGGATTAGAATTACTTAGCAGGTATGAGGATACATGGGCTGCAC
TTCACAGAAGAGCCAAAGACTGTGCAAGTGCTGGAGAGCTGGTGGATAGCGAGGTGGTCATGCT
TTCTGCGCACTGGGAGAAGAAAAAGACAAGCCTCGTGGAGCTGCAAGAGCAGCTCCAGCAGCTC
CCAGCTTTAATCGCAGACTTAGAATCCATGACAGCAAATCTGACTCATTTAGAGGCGAGTTTTG
AGGAGGTAGAGAACAACCTGCTGCATCTGGAAGACTTATGTGGGCAGTGTGAATTAGAAAGATG
CAAACATATGCAGTCCCAGCAACTGGAGAATTACAAGAAAAATAAGAGGAAGGAACTTGAAACC
TTCAAAGCTGAACTAGATGCAGAGCACGCCCAGAAGGTCCTGGAAATGGAGCACACCCAGCAAA
TGAAGCTGAAGGAGCGGCAGAAGTTTTTTGAGGAAGCCTTCCAGCAGGACATGGAGCAGTACCT
GTCCACTGGCTACCTGCAGATTGCAGAGCGGCGAGAGCCCATAGGCAGCATGTCATCCATGGAA
GTGAACGTGGACATGCTGGAGCAGATGGACCTGATGGACATATCGGACCAGGAGGCCCTGGACG
TCTTCCTGAACTCTGGAGGAGAAGAGAACACTGTGCTGTCCCCCGCCTTAGGTAGGGTTGACAA
ACTTGCATTAGCTGAACCAGGGCAGTATCGATGCCACTCCCCTCCAAAGGTGAGACGTGAGAAC
CATCTGCCAGTCACTTACGCATAAACCCCCAAGCTCACAGCCAGCTCCTGGCTCCCTAACCCCA
CGGTTCCACACGGCTGTGTGGCAGCTGCAACAGTGGTGTGGTTCCGTCATGAATTCTTCTCAAA
GATTTGACATGCTCCACTCCGGTAACTTTGGTGAGTTGAGAGCTTTCTTGTTTGTTTTCCCTCC
TTTACCACCCAGAAATCCATTTGAGTCTGCTCCTTGTGGTTAAGGACTGGCGTTTGCAGGGAGG
TGCGGACTCTCCTGCGGGGCTCACGGGAAACTCTTCCCTCTTCGTGCGACAGGCATTTAGGGGC
GTGCCTGCCATGGGCAAAGCCATGGTGTGTGTTCAGCTCTTGGCCTGTGTTGTAAACTTAGTTG
CACTTCAGTTCCTTTCATCCCTTCACAAAATTTTGTTTCACATTCATGCAGCAAATATGGGCTG
AGGTGCCAGACCTGTACCTGGGCTTGGTGCGTTTCAAATTTCAGACCAGTTCTTTGGGCTGGGT
CAAGGCAAAGCTCAGTCGTCCCAGCAGCACCTCAGCCATCTGTAGAAGGTTCTACCATTACCAC
GGTTTCAGCTTCCTCTAAACTTCTCACCCGCTTCTCCTGGCAATCTGTCAGAACGGTGTCATCC
TGGGGAAGAGAAGGAGCTTGGGTGCATTTGCCCTCATCCTGAGAAGGCCAGAATACTGGAGACC
AGCGTGAACCCTCACCCAGAGTCAGGGGAAGATTTAGAAACAGTGACACCTGCATATAGAATTT
TGATTCCTTGAAGAGCCTATTTAGTTCCATAAAATTGGAGAACTGCTGAAGGTCAGTAATTCCG
ACTTTCTCAGCAGTGGTGTCTCTGAATTACTGCAAAGGGTAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

XM_005249447 ⟹ XP_005249504

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	15,522,803 - 15,662,920 (-)	NCBI
GRCh37	6	15,523,032 - 15,663,289 (-)	NCBI

Sequence:

show sequence

AGAGGCAGCAGCAGCCCGAGGCCTGAGGAGAGGAGACCGGCGGCGGCGGCAATGCTGGAGACCC
TTCGCGAGCGGCTGCTGAGCGTGCAGCAGGATTTCACCTCCGGGTCACTTTCAGCTGACAAACC
ACTGGACTGTCAGTGTGTGCCATTAGCCTGTCACCTGGTGGAGAAACAACTCATCTCCAAGTGA
TGTCAGTCTCCCAGTAGACCCGGACCTCTAGTGCCTGATGTTCACTTTCTTCAGGCTGAAGACT
TTAAGTGACAAGTCAAGAGAAGCAAAAGTGAAAAGCAAACCCAGGACTGTTCCATTTTTGCCAA
AGTACTCTGCTGGATTAGAATTACTTAGCAGGTATGAGGATACATGGGCTGCACTTCACAGAAG
AGCCAAAGACTGTGCAAGTGCTGGAGAGCTGGTGGATAGCGAGGTGGTCATGCTTTCTGCGCAC
TGGGAGAAGAAAAAGACAAGCCTCGTGGAGCTGCAAGAGCAGCTCCAGCAGCTCCCAGCTTTAA
TCGCAGACTTAGAATCCATGACAGCAAATCTGACTCATTTAGAGGCGAGTTTTGAGGAGGTAGA
GAACAACCTGCTGCATCTGGAAGACTTATGTGGGCAGTGTGAATTAGAAAGATGCAAACATATG
CAGTCCCAGCAACTGGAGAATTACAAGAAAAATAAGAGGAAGGAACTTGAAACCTTCAAAGCTG
AACTAGATGCAGAGCACGCCCAGAAGGTCCTGGAAATGGAGCACACCCAGCAAATGAAGCTGAA
GGAGCGGCAGAAGTTTTTTGAGGAAGCCTTCCAGCAGGACATGGAGCAGTACCTGTCCACTGGC
TACCTGCAGATTGCAGAGCGGCGAGAGCCCATAGGCAGCATGTCATCCATGGAAGTGAACGTGG
ACATGCTGGAGCAGATGGACCTGATGGACATATCGGACCAGGAGGCCCTGGACGTCTTCCTGAA
CTCTGGAGGAGAAGAGAACACTGTGCTGTCCCCCGCCTTAGGGCCTGAATCCAGTACCTGTCAG
AATGAGATTACCCTCCAGGTTCCAAATCCCTCAGAATTAAGAGCCAAGCCACCTTCTTCTTCCT
CCACCTGCACCGACTCGGCCACCCGGGACATCAGTGAGGGTGGGGAGTCCCCCGTTGTTCAGTC
CGATGAGGAGGAAGTTCAGGTGGACACTGCCCTGGCCACATCACACACTGACAGAGAGGCCACT
CCGGATGGTGGTGAGGACAGCGACTCTTAAATTGGGACATGGGCGTTGTCTGGCCACACTGGAA
TCCAGTTTTGGCTGTATGCGGAATTCCACCTGGAAAGCCAGGTTGTTTTATAGAGGTTCTTGAT
TTTTACATAATTGCCAATAATGTGTGAGAAACTTAAAGAACAGCTAACAATAAAGTGTGAGGAC
GGTAAACTGA

hide sequence

RefSeq Acc Id:

XM_011514936 ⟹ XP_011513238

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	15,522,803 - 15,662,956 (-)	NCBI

Sequence:

show sequence

AGCGCGGGGTTGGCGGCGTGGGACCCAGGGGGCGACAGAGGCAGCAGCAGCCCGAGGCCTGAGG
AGAGGAGACCGGCGGCGGCGGCAATGCTGGAGACCCTTCGCGAGCGGCTGCTGAGCGTGCAGCA
GGATTTCACCTCCGGGTCACTTTCAGCTGACAAACCACTGGACTGTCAGTGTGTGCCATTAGCC
TGTCACCTGGTGGAGAAACAACTCATCTCCAAGTGATGTCAGTCTCCCAGTAGACCCGGACCTC
TAGTGCCTGATGTTCACTTTCTTCAGGCTGAAGACTTTAAGTGACAAGTCAAGAGAAGCAAAAG
TGAAAAGCAAACCCAGGTATGAGGATACATGGGCTGCACTTCACAGAAGAGCCAAAGACTGTGC
AAGTGCTGGAGAGCTGGTGGATAGCGAGGTGGTCATGCTTTCTGCGCACTGGGAGAAGAAAAAG
ACAAGCCTCGTGGAGCTGCAAGAGCAGCTCCAGCAGCTCCCAGCTTTAATCGCAGACTTAGAAT
CCATGACAGCAAATCTGACTCATTTAGAGGCGAGTTTTGAGGAGGTAGAGAACAACCTGCTGCA
TCTGGAAGACTTATGTGGGCAGTGTGAATTAGAAAGATGCAAACATATGCAGTCCCAGCAACTG
GAGAATTACAAGAAAAATAAGAGGAAGGAACTTGAAACCTTCAAAGCTGAACTAGATGCAGAGC
ACGCCCAGAAGGTCCTGGAAATGGAGCACACCCAGCAAATGAAGCTGAAGGAGCGGCAGAAGTT
TTTTGAGGAAGCCTTCCAGCAGGACATGGAGCAGTACCTGTCCACTGGCTACCTGCAGATTGCA
GAGCGGCGAGAGCCCATAGGCAGCATGTCATCCATGGAAGTGAACGTGGACATGCTGGAGCAGA
TGGACCTGATGGACATATCGGACCAGGAGGCCCTGGACGTCTTCCTGAACTCTGGAGGAGAAGA
GAACACTGTGCTGTCCCCCGCCTTAGGGCCTGAATCCAGTACCTGTCAGAATGAGATTACCCTC
CAGGTTCCAAATCCCTCAGAATTAAGAGCCAAGCCACCTTCTTCTTCCTCCACCTGCACCGACT
CGGCCACCCGGGACATCAGTGAGGGTGGGGAGTCCCCCGTTGTTCAGTCCGATGAGGAGGAAGT
TCAGGTGGACACTGCCCTGGCCACATCACACACTGACAGAGAGGCCACTCCGGATGGTGGTGAG
GACAGCGACTCTTAAATTGGGACATGGGCGTTGTCTGGCCACACTGGAATCCAGTTTTGGCTGT
ATGCGGAATTCCACCTGGAAAGCCAGGTTGTTTTATAGAGGTTCTTGATTTTTACATAATTGCC
AATAATGTGTGAGAAACTTAAAGAACAGCTAACAATAAAGTGTGAGGACGGTAAACTGA

hide sequence

RefSeq Acc Id:

XM_011514937 ⟹ XP_011513239

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	15,522,803 - 15,586,181 (-)	NCBI

Sequence:

show sequence

TTTTATGTTACTACTTTCAAACAGCAAGATTTCATCTCTCTTTTGCTGTGTTACTAAAGCATCT
TTGTACCTAGATGACAAATTCTGTTGGATTTAGTTATTTTCAGCCTTCCCTCCCCTCCATTTTG
AGCTGCATTTGGTATGGTCCCAGACCGGTGCATACATCTTTGCACACTAGAGCCCCTGAGAGCT
TGCATTTTGCTTTTATAGAGGCAGTAGATTCCAATGTATATCTGCTTAAGCCATCAGCAAAAAA
CTAATAGGCTTACTACAATTTCTTTGGAAAAACCTGCTTCTGGCTTCAGCCTCACTTCCTTTGT
TCTACATCCCAGAAGATGCACGTGAGGGCAGCTGCCTGGTAACTGGAGGCTTCACTTGACCAGC
ACTGAGCTTCTGTTCACTCCTTCAGGTCTCACATCCATGTCATCTCCAGGACTCACCGAAAATA
GTCAGAGGGATCCCTCTGAACTAGATGCAGAGCACGCCCAGAAGGTCCTGGAAATGGAGCACAC
CCAGCAAATGAAGCTGAAGGAGCGGCAGAAGTTTTTTGAGGAAGCCTTCCAGCAGGACATGGAG
CAGTACCTGTCCACTGGCTACCTGCAGATTGCAGAGCGGCGAGAGCCCATAGGCAGCATGTCAT
CCATGGAAGTGAACGTGGACATGCTGGAGCAGATGGACCTGATGGACATATCGGACCAGGAGGC
CCTGGACGTCTTCCTGAACTCTGGAGGAGAAGAGAACACTGTGCTGTCCCCCGCCTTAGGGCCT
GAATCCAGTACCTGTCAGAATGAGATTACCCTCCAGGTTCCAAATCCCTCAGAATTAAGAGCCA
AGCCACCTTCTTCTTCCTCCACCTGCACCGACTCGGCCACCCGGGACATCAGTGAGGGTGGGGA
GTCCCCCGTTGTTCAGTCCGATGAGGAGGAAGTTCAGGTGGACACTGCCCTGGCCACATCACAC
ACTGACAGAGAGGCCACTCCGGATGGTGGTGAGGACAGCGACTCTTAAATTGGGACATGGGCGT
TGTCTGGCCACACTGGAATCCAGTTTTGGCTGTATGCGGAATTCCACCTGGAAAGCCAGGTTGT
TTTATAGAGGTTCTTGATTTTTACATAATTGCCAATAATGTGTGAGAAACTTAAAGAACAGCTA
ACAATAAAGTGTGAGGACGGTAAACTGA

hide sequence

RefSeq Acc Id:

XM_017011348 ⟹ XP_016866837

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	15,522,803 - 15,533,865 (-)	NCBI

Sequence:

show sequence

GTCATACATGGTCACAGTCTTGCAGGGACTCCAAATCCTTAGCAATTGCACTGCAATTTTTGTA
AGTCAGCTGCAAAAGTCTAAACACAGGGATGTGGAAACATCTGGATGGAGCAGCAGACTCCACT
GGAGTTAGTAGAAGGACGACCTGAGAAGCTGGTCTTGGAAGCTGAACTAGATGCAGAGCACGCC
CAGAAGGTCCTGGAAATGGAGCACACCCAGCAAATGAAGCTGAAGGAGCGGCAGAAGTTTTTTG
AGGAAGCCTTCCAGCAGGACATGGAGCAGTACCTGTCCACTGGCTACCTGCAGATTGCAGAGCG
GCGAGAGCCCATAGGCAGCATGTCATCCATGGAAGTGAACGTGGACATGCTGGAGCAGATGGAC
CTGATGGACATATCGGACCAGGAGGCCCTGGACGTCTTCCTGAACTCTGGAGGAGAAGAGAACA
CTGTGCTGTCCCCCGCCTTAGGGCCTGAATCCAGTACCTGTCAGAATGAGATTACCCTCCAGGT
TCCAAATCCCTCAGAATTAAGAGCCAAGCCACCTTCTTCTTCCTCCACCTGCACCGACTCGGCC
ACCCGGGACATCAGTGAGGGTGGGGAGTCCCCCGTTGTTCAGTCCGATGAGGAGGAAGTTCAGG
TGGACACTGCCCTGGCCACATCACACACTGACAGAGAGGCCACTCCGGATGGTGGTGAGGACAG
CGACTCTTAAATTGGGACATGGGCGTTGTCTGGCCACACTGGAATCCAGTTTTGGCTGTATGCG
GAATTCCACCTGGAAAGCCAGGTTGTTTTATAGAGGTTCTTGATTTTTACATAATTGCCAATAA
TGTGTGAGAAACTTAAAGAACAGCTAACAATAAAGTGTGAGGACGGTAAACTGA

hide sequence

RefSeq Acc Id:

XM_017011349 ⟹ XP_016866838

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	15,522,803 - 15,533,707 (-)	NCBI

Sequence:

show sequence

GGTCTTGGAAGGTGAACAGCTGTTTGTGACTGATGAATGGGCGATGCGGGTGGGAAGGTCGTTC
CAGCAAAGGGAACAGCACATGCAAAGCTGAACTAGATGCAGAGCACGCCCAGAAGGTCCTGGAA
ATGGAGCACACCCAGCAAATGAAGCTGAAGGAGCGGCAGAAGTTTTTTGAGGAAGCCTTCCAGC
AGGACATGGAGCAGTACCTGTCCACTGGCTACCTGCAGATTGCAGAGCGGCGAGAGCCCATAGG
CAGCATGTCATCCATGGAAGTGAACGTGGACATGCTGGAGCAGATGGACCTGATGGACATATCG
GACCAGGAGGCCCTGGACGTCTTCCTGAACTCTGGAGGAGAAGAGAACACTGTGCTGTCCCCCG
CCTTAGGGCCTGAATCCAGTACCTGTCAGAATGAGATTACCCTCCAGGTTCCAAATCCCTCAGA
ATTAAGAGCCAAGCCACCTTCTTCTTCCTCCACCTGCACCGACTCGGCCACCCGGGACATCAGT
GAGGGTGGGGAGTCCCCCGTTGTTCAGTCCGATGAGGAGGAAGTTCAGGTGGACACTGCCCTGG
CCACATCACACACTGACAGAGAGGCCACTCCGGATGGTGGTGAGGACAGCGACTCTTAAATTGG
GACATGGGCGTTGTCTGGCCACACTGGAATCCAGTTTTGGCTGTATGCGGAATTCCACCTGGAA
AGCCAGGTTGTTTTATAGAGGTTCTTGATTTTTACATAATTGCCAATAATGTGTGAGAAACTTA
AAGAACAGCTAACAATAAAGTGTGAGGACGGTAAACTGA

hide sequence

RefSeq Acc Id:

XM_024446567 ⟹ XP_024302335

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	15,522,803 - 15,554,012 (-)	NCBI

Sequence:

show sequence

CTTATTTGAGATAGAGTCCTTTCTCTCCATGTGTAGGGTTGGCGTCTCTCACATGAGGATCTTG
TGTCCTGCTTCAGGAGAAAATGAGAAGATCCTTCCTAGGTTTTATGCCTGCCTCAGGGGAGAAG
GGCAAGGGGAAGCTGAACTAGATGCAGAGCACGCCCAGAAGGTCCTGGAAATGGAGCACACCCA
GCAAATGAAGCTGAAGGAGCGGCAGAAGTTTTTTGAGGAAGCCTTCCAGCAGGACATGGAGCAG
TACCTGTCCACTGGCTACCTGCAGATTGCAGAGCGGCGAGAGCCCATAGGCAGCATGTCATCCA
TGGAAGTGAACGTGGACATGCTGGAGCAGATGGACCTGATGGACATATCGGACCAGGAGGCCCT
GGACGTCTTCCTGAACTCTGGAGGAGAAGAGAACACTGTGCTGTCCCCCGCCTTAGGGCCTGAA
TCCAGTACCTGTCAGAATGAGATTACCCTCCAGGTTCCAAATCCCTCAGAATTAAGAGCCAAGC
CACCTTCTTCTTCCTCCACCTGCACCGACTCGGCCACCCGGGACATCAGTGAGGGTGGGGAGTC
CCCCGTTGTTCAGTCCGATGAGGAGGAAGTTCAGGTGGACACTGCCCTGGCCACATCACACACT
GACAGAGAGGCCACTCCGGATGGTGGTGAGGACAGCGACTCTTAAATTGGGACATGGGCGTTGT
CTGGCCACACTGGAATCCAGTTTTGGCTGTATGCGGAATTCCACCTGGAAAGCCAGGTTGTTTT
ATAGAGGTTCTTGATTTTTACATAATTGCCAATAATGTGTGAGAAACTTAAAGAACAGCTAACA
ATAAAGTGTGAGGACGGTAAACTGA

hide 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:	show sequence MLETLRERLLSVQQDFTSGLKTLSDKSREAKVKSKPRTVPFLPKYSAGLELLSRYEDTWAALHR RAKDCASAGELVDSEVVMLSAHWEKKKTSLVELQEQLQQLPALIADLESMTANLTHLEASFEEV ENNLLHLEDLCGQCELERCKHMQSQQLENYKKNKRKELETFKAELDAEHAQKVLEMEHTQQMKL KERQKFFEEAFQQDMEQYLSTGYLQIAERREPIGSMSSMEVNVDMLEQMDLMDISDQEALDVFL NSGGEENTVLSPALGPESSTCQNEITLQVPNPSELRAKPPSSSSTCTDSATRDISEGGESPVVQ SDEEEVQVDTALATSHTDREATPDGGEDSDS hide sequence

RefSeq Acc Id:	NP_898861 ⟸ NM_183040
- Peptide Label:	isoform b
- UniProtKB:	Q96EV8 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLETLRERLLSVQQDFTSGLKTLSDKSREAKVKSKPRTVPFLPKYSAGLELLSRYEDTWAALHR RAKDCASAGELVDSEVVMLSAHWEKKKTSLVELQEQLQQLPALIADLESMTANLTHLEASFEEV ENNLLHLEDLCGQCELERCKHMQSQQLENYKKNKRKELETFKAELDAEHAQKVLEMEHTQQMKL KERQKFFEEAFQQDMEQYLSTGYLQIAERREPIGSMSSMEVNVDMLEQMDLMDISDQEALDVFL NSGGEENTVLSPALGRVDKLALAEPGQYRCHSPPKVRRENHLPVTYA hide sequence

RefSeq Acc Id:	NP_001258598 ⟸ NM_001271669
- Peptide Label:	isoform e
- UniProtKB:	Q96EV8 (UniProtKB/Swiss-Prot), A0A087WYP9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLETLRERLLSVQQDFTSGYEDTWAALHRRAKDCASAGELVDSEVVMLSAHWEKKKTSLVELQE QLQQLPALIADLESMTANLTHLEASFEEVENNLLHLEDLCGQCELERCKHMQSQQLENYKKNKR KELETFKAELDAEHAQKVLEMEHTQQMKLKERQKFFEEAFQQDMEQYLSTGYLQIAERREPIGS MSSMEVNVDMLEQMDLMDISDQEALDVFLNSGGEENTVLSPALGPESSTCQNEITLQVPNPSEL RAKPPSSSSTCTDSATRDISEGGESPVVQSDEEEVQVDTALATSHTDREATPDGGEDSDS hide sequence

RefSeq Acc Id:	NP_001258597 ⟸ NM_001271668
- Peptide Label:	isoform d
- UniProtKB:	Q96EV8 (UniProtKB/Swiss-Prot), A6NFV8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLETLRERLLSVQQDFTSGLKTLSDKSREAKVKSKPRYEDTWAALHRRAKDCASAGELVDSEVV MLSAHWEKKKTSLVELQEQLQQLPALIADLESMTANLTHLEASFEEVENNLLHLEDLCGQCELE RCKHMQSQQLENYKKNKRKELETFKAELDAEHAQKVLEMEHTQQMKLKERQKFFEEAFQQDMEQ YLSTGYLQIAERREPIGSMSSMEVNVDMLEQMDLMDISDQEALDVFLNSGGEENTVLSPALGPE SSTCQNEITLQVPNPSELRAKPPSSSSTCTDSATRDISEGGESPVVQSDEEEVQVDTALATSHT DREATPDGGEDSDS hide sequence

RefSeq Acc Id:	NP_001258596 ⟸ NM_001271667
- Peptide Label:	isoform C
- UniProtKB:	Q96EV8 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLSAHWEKKKTSLVELQEQLQQLPALIADLESMTANLTHLEASFEEVENNLLHLEDLCGQCELE RCKHMQSQQLENYKKNKRKELETFKAELDAEHAQKVLEMEHTQQMKLKERQKFFEEAFQQDMEQ YLSTGYLQIAERREPIGSMSSMEVNVDMLEQMDLMDISDQEALDVFLNSGGEENTVLSPALGPE SSTCQNEITLQVPNPSELRAKPPSSSSTCTDSATRDISEGGESPVVQSDEEEVQVDTALATSHT DREATPDGGEDSDS hide sequence

RefSeq Acc Id:

XP_005249504 ⟸ XM_005249447

- Peptide Label:

isoform X1

- Sequence:

show sequence

MFTFFRLKTLSDKSREAKVKSKPRTVPFLPKYSAGLELLSRYEDTWAALHRRAKDCASAGELVD
SEVVMLSAHWEKKKTSLVELQEQLQQLPALIADLESMTANLTHLEASFEEVENNLLHLEDLCGQ
CELERCKHMQSQQLENYKKNKRKELETFKAELDAEHAQKVLEMEHTQQMKLKERQKFFEEAFQQ
DMEQYLSTGYLQIAERREPIGSMSSMEVNVDMLEQMDLMDISDQEALDVFLNSGGEENTVLSPA
LGPESSTCQNEITLQVPNPSELRAKPPSSSSTCTDSATRDISEGGESPVVQSDEEEVQVDTALA
TSHTDREATPDGGEDSDS

hide sequence

RefSeq Acc Id:

XP_011513238 ⟸ XM_011514936

- Peptide Label:

isoform X2

- Sequence:

show sequence

MFTFFRLKTLSDKSREAKVKSKPRYEDTWAALHRRAKDCASAGELVDSEVVMLSAHWEKKKTSL
VELQEQLQQLPALIADLESMTANLTHLEASFEEVENNLLHLEDLCGQCELERCKHMQSQQLENY
KKNKRKELETFKAELDAEHAQKVLEMEHTQQMKLKERQKFFEEAFQQDMEQYLSTGYLQIAERR
EPIGSMSSMEVNVDMLEQMDLMDISDQEALDVFLNSGGEENTVLSPALGPESSTCQNEITLQVP
NPSELRAKPPSSSSTCTDSATRDISEGGESPVVQSDEEEVQVDTALATSHTDREATPDGGEDSD
S

hide sequence

RefSeq Acc Id:	XP_011513239 ⟸ XM_011514937
- Peptide Label:	isoform X6
- UniProtKB:	D6RJC6 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSSPGLTENSQRDPSELDAEHAQKVLEMEHTQQMKLKERQKFFEEAFQQDMEQYLSTGYLQIAE RREPIGSMSSMEVNVDMLEQMDLMDISDQEALDVFLNSGGEENTVLSPALGPESSTCQNEITLQ VPNPSELRAKPPSSSSTCTDSATRDISEGGESPVVQSDEEEVQVDTALATSHTDREATPDGGED SDS hide sequence

RefSeq Acc Id:

XP_016866837 ⟸ XM_017011348

- Peptide Label:

isoform X4

- Sequence:

show sequence

MEQQTPLELVEGRPEKLVLEAELDAEHAQKVLEMEHTQQMKLKERQKFFEEAFQQDMEQYLSTG
YLQIAERREPIGSMSSMEVNVDMLEQMDLMDISDQEALDVFLNSGGEENTVLSPALGPESSTCQ
NEITLQVPNPSELRAKPPSSSSTCTDSATRDISEGGESPVVQSDEEEVQVDTALATSHTDREAT
PDGGEDSDS

hide sequence

RefSeq Acc Id:

XP_016866838 ⟸ XM_017011349

- Peptide Label:

isoform X5

- Sequence:

show sequence

MNGRCGWEGRSSKGNSTCKAELDAEHAQKVLEMEHTQQMKLKERQKFFEEAFQQDMEQYLSTGY
LQIAERREPIGSMSSMEVNVDMLEQMDLMDISDQEALDVFLNSGGEENTVLSPALGPESSTCQN
EITLQVPNPSELRAKPPSSSSTCTDSATRDISEGGESPVVQSDEEEVQVDTALATSHTDREATP
DGGEDSDS

hide sequence

RefSeq Acc Id:

XP_024302335 ⟸ XM_024446567

- Peptide Label:

isoform X3

- Sequence:

show sequence

MCRVGVSHMRILCPASGENEKILPRFYACLRGEGQGEAELDAEHAQKVLEMEHTQQMKLKERQK
FFEEAFQQDMEQYLSTGYLQIAERREPIGSMSSMEVNVDMLEQMDLMDISDQEALDVFLNSGGE
ENTVLSPALGPESSTCQNEITLQVPNPSELRAKPPSSSSTCTDSATRDISEGGESPVVQSDEEE
VQVDTALATSHTDREATPDGGEDSDS

hide 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 Assembly	Chr	Position (strand)	Source
GRCh38	6	15,662,982 - 15,663,042	EPDNEW

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 Assembly	Chr	Position (strand)	Source
Build 36	6	15,770,906 - 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

External Database Links

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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM