NPBWR1 (neuropeptides B and W receptor 1) - Rat Genome Database

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Gene: NPBWR1 (neuropeptides B and W receptor 1) Homo sapiens
Analyze
Symbol: NPBWR1
Name: neuropeptides B and W receptor 1
RGD ID: 1314235
HGNC Page HGNC:4522
Description: Predicted to enable G protein-coupled receptor activity and neuropeptide binding activity. Involved in G protein-coupled receptor signaling pathway. Predicted to be located in plasma membrane. Predicted to be active in neuron projection.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: G protein-coupled receptor 7; G-protein coupled receptor 7; GPR7; MGC129755; neuropeptide B/W receptor 1; neuropeptides B/W receptor 1; neuropeptides B/W receptor type 1; opioid-somatostatin-like receptor 7
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
GRCh38852,939,182 - 52,943,734 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl852,939,182 - 52,943,734 (+)EnsemblGRCh38hg38GRCh38
GRCh37853,851,742 - 53,856,294 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36854,015,021 - 54,016,007 (+)NCBINCBI36Build 36hg18NCBI36
Build 34854,015,020 - 54,016,007NCBI
Celera849,843,313 - 49,844,299 (+)NCBICelera
Cytogenetic Map8q11.23NCBI
HuRef849,319,868 - 49,320,854 (+)NCBIHuRef
CHM1_1853,904,190 - 53,905,176 (+)NCBICHM1_1
T2T-CHM13v2.0853,315,605 - 53,320,157 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (IC,IEA)
neuron projection  (IBA,IEA)
plasma membrane  (IBA,IEA,TAS)
synapse  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7590751   PMID:12118011   PMID:12130646   PMID:12401809   PMID:12477932   PMID:12719537   PMID:15607941   PMID:15797961   PMID:17437806   PMID:18240029   PMID:18577758   PMID:21873635  
PMID:22545105   PMID:23563248   PMID:24081945   PMID:25231870   PMID:32296183  


Genomics

Comparative Map Data
NPBWR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38852,939,182 - 52,943,734 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl852,939,182 - 52,943,734 (+)EnsemblGRCh38hg38GRCh38
GRCh37853,851,742 - 53,856,294 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36854,015,021 - 54,016,007 (+)NCBINCBI36Build 36hg18NCBI36
Build 34854,015,020 - 54,016,007NCBI
Celera849,843,313 - 49,844,299 (+)NCBICelera
Cytogenetic Map8q11.23NCBI
HuRef849,319,868 - 49,320,854 (+)NCBIHuRef
CHM1_1853,904,190 - 53,905,176 (+)NCBICHM1_1
T2T-CHM13v2.0853,315,605 - 53,320,157 (+)NCBIT2T-CHM13v2.0
Npbwr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3915,983,926 - 5,987,617 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl15,983,926 - 5,987,617 (-)EnsemblGRCm39 Ensembl
GRCm3815,913,707 - 5,917,398 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl15,913,707 - 5,917,398 (-)EnsemblGRCm38mm10GRCm38
MGSCv3715,903,788 - 5,907,479 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3615,903,788 - 5,907,479 (-)NCBIMGSCv36mm8
Celera15,903,854 - 5,907,545 (-)NCBICelera
Cytogenetic Map1A1NCBI
cM Map11.89NCBI
Npbwr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8518,282,180 - 18,285,622 (+)NCBIGRCr8
mRatBN7.2513,495,319 - 13,498,761 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl513,495,426 - 13,496,415 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx515,661,002 - 15,661,991 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0517,305,633 - 17,306,622 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0516,995,703 - 16,996,692 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0513,379,772 - 13,380,761 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl513,379,772 - 13,380,761 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0518,149,038 - 18,150,027 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4513,637,094 - 13,638,083 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1513,637,093 - 13,638,082 (+)NCBI
Celera512,903,127 - 12,904,116 (+)NCBICelera
Cytogenetic Map5q12NCBI
Npbwr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495545412,453,047 - 12,453,676 (+)NCBIChiLan1.0ChiLan1.0
NPBWR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2768,574,398 - 68,579,711 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1844,299,388 - 44,301,866 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0849,363,390 - 49,368,499 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1846,745,428 - 46,746,949 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl846,745,428 - 46,746,414 (+)Ensemblpanpan1.1panPan2
NPBWR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1294,772,851 - 4,774,412 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl294,773,409 - 4,774,404 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha295,213,096 - 5,214,096 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0294,843,580 - 4,844,580 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl294,843,585 - 4,844,580 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1294,776,129 - 4,777,129 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0294,997,715 - 4,998,715 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0295,078,264 - 5,079,264 (+)NCBIUU_Cfam_GSD_1.0
Npbwr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530374,810,294 - 74,849,609 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493659036,377 - 38,899 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493659038,185 - 38,899 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NPBWR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl477,539,087 - 77,540,079 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1477,539,000 - 77,540,691 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2484,561,705 - 84,562,872 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NPBWR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1849,049,142 - 49,053,037 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl849,049,238 - 49,050,224 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603992,938,770 - 92,945,140 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Npbwr1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247352,574,026 - 2,575,018 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247352,573,992 - 2,576,509 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NPBWR1
19 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
NM_005285.3(NPBWR1):c.849G>A (p.Pro283=) single nucleotide variant Malignant melanoma [RCV000068340] Chr8:52940756 [GRCh38]
Chr8:53853316 [GRCh37]
Chr8:54015869 [NCBI36]
Chr8:8q11.23		 not provided
GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 copy number gain See cases [RCV000133720] Chr8:46031334..69303787 [GRCh38]
Chr8:46942956..70216022 [GRCh37]
Chr8:47062121..70378576 [NCBI36]
Chr8:8q11.1-13.2		 pathogenic
GRCh38/hg38 8q11.23(chr8:52910511-53030364)x3 copy number gain See cases [RCV000135122] Chr8:52910511..53030364 [GRCh38]
Chr8:53823071..53942924 [GRCh37]
Chr8:53985624..54105477 [NCBI36]
Chr8:8q11.23		 benign
GRCh38/hg38 8q11.23(chr8:52875424-53454793)x3 copy number gain See cases [RCV000135687] Chr8:52875424..53454793 [GRCh38]
Chr8:53787984..54367353 [GRCh37]
Chr8:53950537..54529906 [NCBI36]
Chr8:8q11.23		 uncertain significance
GRCh38/hg38 8q11.23(chr8:52294744-53104010)x3 copy number gain See cases [RCV000137448] Chr8:52294744..53104010 [GRCh38]
Chr8:53207304..54016570 [GRCh37]
Chr8:53369857..54179123 [NCBI36]
Chr8:8q11.23		 pathogenic|likely benign
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8q11.23(chr8:52387273-52944183)x3 copy number gain See cases [RCV000139568] Chr8:52387273..52944183 [GRCh38]
Chr8:53299833..53856743 [GRCh37]
Chr8:53462386..54019296 [NCBI36]
Chr8:8q11.23		 likely benign
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 copy number gain See cases [RCV000139582] Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1		 pathogenic
GRCh38/hg38 8q11.23(chr8:52387348-52986011)x3 copy number gain See cases [RCV000139781] Chr8:52387348..52986011 [GRCh38]
Chr8:53299908..53898571 [GRCh37]
Chr8:53462461..54061124 [NCBI36]
Chr8:8q11.23		 uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1 copy number loss See cases [RCV000142642] Chr8:49471778..57825470 [GRCh38]
Chr8:50384337..58738029 [GRCh37]
Chr8:50546890..58900583 [NCBI36]
Chr8:8q11.21-12.1		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3 copy number gain See cases [RCV000239428] Chr8:53436131..65195953 [GRCh37]
Chr8:8q11.23-12.3		 pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q11.23(chr8:53348708-53892198)x3 copy number gain See cases [RCV000448340] Chr8:53348708..53892198 [GRCh37]
Chr8:8q11.23		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q11.23(chr8:53716052-54365675)x3 copy number gain See cases [RCV000511871] Chr8:53716052..54365675 [GRCh37]
Chr8:8q11.23		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_005285.5(NPBWR1):c.862A>G (p.Ile288Val) single nucleotide variant Inborn genetic diseases [RCV003248905] Chr8:52940769 [GRCh38]
Chr8:53853329 [GRCh37]
Chr8:8q11.23		 likely benign
NM_005285.5(NPBWR1):c.436C>G (p.Arg146Gly) single nucleotide variant Inborn genetic diseases [RCV003275799] Chr8:52940343 [GRCh38]
Chr8:53852903 [GRCh37]
Chr8:8q11.23		 uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q11.1-11.23(chr8:46863521-55218838)x3 copy number gain not provided [RCV000683033] Chr8:46863521..55218838 [GRCh37]
Chr8:8q11.1-11.23		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
Single allele duplication Schizophrenia [RCV000754352] Chr8:52698006..53562665 [GRCh38]
Chr8:8q11.23		 likely pathogenic
Single allele duplication Schizophrenia [RCV000754353] Chr8:52714195..52957953 [GRCh38]
Chr8:8q11.23		 likely pathogenic
GRCh37/hg19 8q11.23(chr8:53375405-53946170)x3 copy number gain not provided [RCV000747560] Chr8:53375405..53946170 [GRCh37]
Chr8:8q11.23		 benign
GRCh37/hg19 8q11.23(chr8:53718942-54366491)x3 copy number gain not provided [RCV000747568] Chr8:53718942..54366491 [GRCh37]
Chr8:8q11.23		 benign
GRCh37/hg19 8q11.21-12.1(chr8:49822483-58822602)x1 copy number loss not provided [RCV000747540] Chr8:49822483..58822602 [GRCh37]
Chr8:8q11.21-12.1		 pathogenic
GRCh37/hg19 8q11.23(chr8:53303885-53887419)x3 copy number gain not provided [RCV000747558] Chr8:53303885..53887419 [GRCh37]
Chr8:8q11.23		 benign
GRCh37/hg19 8q11.23(chr8:53303885-53911985)x3 copy number gain not provided [RCV000747559] Chr8:53303885..53911985 [GRCh37]
Chr8:8q11.23		 benign
NM_005285.5(NPBWR1):c.934G>T (p.Ala312Ser) single nucleotide variant Inborn genetic diseases [RCV003246080] Chr8:52940841 [GRCh38]
Chr8:53853401 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_005285.5(NPBWR1):c.955C>T (p.Arg319Cys) single nucleotide variant not provided [RCV000972450] Chr8:52940862 [GRCh38]
Chr8:53853422 [GRCh37]
Chr8:8q11.23		 benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3 copy number gain not provided [RCV000846266] Chr8:39555657..64049089 [GRCh37]
Chr8:8p11.22-q12.3		 pathogenic
GRCh37/hg19 8q11.23(chr8:53548484-54017118)x1 copy number loss not provided [RCV000846296] Chr8:53548484..54017118 [GRCh37]
Chr8:8q11.23		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q11.23(chr8:53383339-53856239)x3 copy number gain not provided [RCV001006105] Chr8:53383339..53856239 [GRCh37]
Chr8:8q11.23		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q11.23(chr8:52605905-54913501)x3 copy number gain not provided [RCV001258408] Chr8:52605905..54913501 [GRCh37]
Chr8:8q11.23		 uncertain significance
GRCh37/hg19 8q11.23(chr8:53348708-53892198) copy number gain not specified [RCV002053763] Chr8:53348708..53892198 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_005285.5(NPBWR1):c.620C>A (p.Thr207Lys) single nucleotide variant Inborn genetic diseases [RCV003283240] Chr8:52940527 [GRCh38]
Chr8:53853087 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_005285.5(NPBWR1):c.505G>C (p.Val169Leu) single nucleotide variant Inborn genetic diseases [RCV002777373] Chr8:52940412 [GRCh38]
Chr8:53852972 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_005285.5(NPBWR1):c.613C>T (p.Leu205Phe) single nucleotide variant Inborn genetic diseases [RCV002781905] Chr8:52940520 [GRCh38]
Chr8:53853080 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_005285.5(NPBWR1):c.374A>G (p.Tyr125Cys) single nucleotide variant Inborn genetic diseases [RCV002784094] Chr8:52940281 [GRCh38]
Chr8:53852841 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_005285.5(NPBWR1):c.842A>G (p.Gln281Arg) single nucleotide variant Inborn genetic diseases [RCV002850032] Chr8:52940749 [GRCh38]
Chr8:53853309 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_005285.5(NPBWR1):c.973C>G (p.Arg325Gly) single nucleotide variant Inborn genetic diseases [RCV002789028] Chr8:52940880 [GRCh38]
Chr8:53853440 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_005285.5(NPBWR1):c.437G>A (p.Arg146Gln) single nucleotide variant Inborn genetic diseases [RCV002670687] Chr8:52940344 [GRCh38]
Chr8:53852904 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_005285.5(NPBWR1):c.946A>G (p.Arg316Gly) single nucleotide variant Inborn genetic diseases [RCV002747467] Chr8:52940853 [GRCh38]
Chr8:53853413 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_005285.5(NPBWR1):c.773C>T (p.Ala258Val) single nucleotide variant Inborn genetic diseases [RCV002831970] Chr8:52940680 [GRCh38]
Chr8:53853240 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_005285.5(NPBWR1):c.367A>C (p.Ser123Arg) single nucleotide variant Inborn genetic diseases [RCV002939203] Chr8:52940274 [GRCh38]
Chr8:53852834 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_005285.5(NPBWR1):c.224T>A (p.Phe75Tyr) single nucleotide variant Inborn genetic diseases [RCV002677533] Chr8:52940131 [GRCh38]
Chr8:53852691 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_005285.5(NPBWR1):c.971G>A (p.Cys324Tyr) single nucleotide variant Inborn genetic diseases [RCV003256281] Chr8:52940878 [GRCh38]
Chr8:53853438 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_005285.5(NPBWR1):c.749C>A (p.Thr250Asn) single nucleotide variant Inborn genetic diseases [RCV003211569] Chr8:52940656 [GRCh38]
Chr8:53853216 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_005285.5(NPBWR1):c.715G>A (p.Ala239Thr) single nucleotide variant Inborn genetic diseases [RCV003309186] Chr8:52940622 [GRCh38]
Chr8:53853182 [GRCh37]
Chr8:8q11.23		 uncertain significance
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q11.23(chr8:53384715-53917710)x3 copy number gain not provided [RCV003885520] Chr8:53384715..53917710 [GRCh37]
Chr8:8q11.23		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:348
Count of miRNA genes:319
Interacting mature miRNAs:341
Transcripts:ENST00000331251
Prediction methods: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.

Markers in Region
RH71213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37853,853,265 - 53,853,388UniSTSGRCh37
Build 36854,015,818 - 54,015,941RGDNCBI36
Celera849,844,110 - 49,844,233RGD
Cytogenetic Map8p22-q21.13UniSTS
HuRef849,320,665 - 49,320,788UniSTS
GeneMap99-GB4 RH Map8296.88UniSTS
NCBI RH Map8720.2UniSTS
UniSTS:481712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37853,852,468 - 53,853,454UniSTSGRCh37
Celera849,843,313 - 49,844,299UniSTS
HuRef849,319,868 - 49,320,854UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 3 1 2 3 19 5
Low 13 2 291 170 23 156 674 4 331 43 95 101 18 1 241
Below cutoff 733 533 626 328 476 194 1584 502 1691 106 728 598 135 458 888 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000331251   ⟹   ENSP00000330284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl852,938,431 - 52,941,117 (+)Ensembl
RefSeq Acc Id: ENST00000674939   ⟹   ENSP00000501711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl852,939,182 - 52,943,734 (+)Ensembl
RefSeq Acc Id: NM_005285   ⟹   NP_005276
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38852,939,182 - 52,943,734 (+)NCBI
GRCh37853,852,468 - 53,853,454 (+)RGD
Build 36854,015,021 - 54,016,007 (+)NCBI Archive
Celera849,843,313 - 49,844,299 (+)RGD
HuRef849,319,868 - 49,320,854 (+)RGD
CHM1_1853,904,190 - 53,905,176 (+)NCBI
T2T-CHM13v2.0853,315,605 - 53,320,157 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_005276 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC50197 (Get FASTA)   NCBI Sequence Viewer  
  AAH69117 (Get FASTA)   NCBI Sequence Viewer  
  AAI07102 (Get FASTA)   NCBI Sequence Viewer  
  AFF59482 (Get FASTA)   NCBI Sequence Viewer  
  EAW86722 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000501711
  ENSP00000501711.1
GenBank Protein P48145 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_005276   ⟸   NM_005285
- UniProtKB: Q6NTC7 (UniProtKB/Swiss-Prot),   P48145 (UniProtKB/Swiss-Prot),   H9NIL7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000330284   ⟸   ENST00000331251
RefSeq Acc Id: ENSP00000501711   ⟸   ENST00000674939
Protein Domains
G-protein coupled receptors family 1 profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P48145-F1-model_v2 AlphaFold P48145 1-328 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4522 AgrOrtholog
COSMIC NPBWR1 COSMIC
Ensembl Genes ENSG00000183729 Ensembl
  ENSG00000288611 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000674939 ENTREZGENE
  ENST00000674939.1 UniProtKB/Swiss-Prot
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000183729 GTEx
  ENSG00000288611 GTEx
HGNC ID HGNC:4522 ENTREZGENE
Human Proteome Map NPBWR1 Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neuropept_B/W_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2831 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2831 ENTREZGENE
OMIM 600730 OMIM
PANTHER NEUROPEPTIDES RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24229:SF47 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28912 PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NRPEPTIDEWR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt H9NIL7 ENTREZGENE, UniProtKB/TrEMBL
  NPBW1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6NTC7 ENTREZGENE
UniProt Secondary Q6NTC7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-12-27 NPBWR1  neuropeptides B and W receptor 1    neuropeptides B/W receptor 1  Symbol and/or name change 5135510 APPROVED