PRB1 (proline rich protein BstNI subfamily 1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: PRB1 (proline rich protein BstNI subfamily 1) Homo sapiens
Analyze
Symbol: PRB1
Name: proline rich protein BstNI subfamily 1
RGD ID: 1348170
HGNC Page HGNC:9337
Description: Predicted to be located in extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: basic proline-rich protein; basic salivary proline-rich protein 1; BstNI type basic salivary proline-rich protein 1; parotid middle band protein; PM; PMF; PMS; PRB1 large length copy; PRB1L; PRB1M; proline rich protein BstNI subfamily 1 (gene/pseudogene); proline-rich protein BstNI subfamily 1; salivary proline-rich protein 1; salivary protein Pe
RGD Orthologs
Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381211,351,821 - 11,355,591 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1211,351,823 - 11,355,591 (-)EnsemblGRCh38hg38GRCh38
GRCh371211,504,755 - 11,508,525 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361211,396,024 - 11,399,791 (-)NCBINCBI36Build 36hg18NCBI36
Build 341211,396,023 - 11,399,791NCBI
Celera1216,647,011 - 16,650,779 (-)NCBICelera
Cytogenetic Map12p13.2NCBI
HuRef1211,269,097 - 11,272,891 (-)NCBIHuRef
CHM1_11211,469,942 - 11,473,466 (-)NCBICHM1_1
T2T-CHM13v2.01211,221,005 - 11,224,775 (-)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

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:877561   PMID:1618808   PMID:2851479   PMID:2993301   PMID:3055850   PMID:3521730   PMID:6089212   PMID:6671974   PMID:6810092   PMID:6924859   PMID:7118863   PMID:8317492  
PMID:8422499   PMID:9487127   PMID:9796777   PMID:11329013   PMID:11422372   PMID:12477932   PMID:12549820   PMID:25416956   PMID:26186194   PMID:26598620   PMID:27588265   PMID:28514442  
PMID:28625976   PMID:32296183   PMID:33961781  


Genomics

Comparative Map Data
PRB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381211,351,821 - 11,355,591 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1211,351,823 - 11,355,591 (-)EnsemblGRCh38hg38GRCh38
GRCh371211,504,755 - 11,508,525 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361211,396,024 - 11,399,791 (-)NCBINCBI36Build 36hg18NCBI36
Build 341211,396,023 - 11,399,791NCBI
Celera1216,647,011 - 16,650,779 (-)NCBICelera
Cytogenetic Map12p13.2NCBI
HuRef1211,269,097 - 11,272,891 (-)NCBIHuRef
CHM1_11211,469,942 - 11,473,466 (-)NCBICHM1_1
T2T-CHM13v2.01211,221,005 - 11,224,775 (-)NCBIT2T-CHM13v2.0
Prb1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84167,240,337 - 167,243,803 (-)NCBIGRCr8
mRatBN7.24165,508,927 - 165,512,393 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4165,509,298 - 165,512,393 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4171,793,725 - 171,797,191 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04167,576,742 - 167,580,208 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04166,210,778 - 166,214,244 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04165,985,029 - 165,988,466 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4165,985,348 - 165,988,472 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04228,551,785 - 228,554,903 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44169,555,514 - 169,558,606 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14169,800,449 - 169,803,542 (-)NCBI
Celera4154,106,655 - 154,109,747 (-)NCBICelera
Cytogenetic Map4q42NCBI

Variants

.
Variants in PRB1
28 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006248.4(PRB2):c.503A>T (p.Asn168Ile) single nucleotide variant Inborn genetic diseases [RCV002989734] Chr12:11353849 [GRCh38]
Chr12:11506783 [GRCh37]
Chr12:12p13.2		 uncertain significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22		 pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1 copy number loss See cases [RCV000142882] Chr12:11121039..15908154 [GRCh38]
Chr12:11273638..16061088 [GRCh37]
Chr12:11164905..15952355 [NCBI36]
Chr12:12p13.2-12.3		 likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
chr12:10074776-18800953 complex variant complex Breast ductal adenocarcinoma [RCV000207105] Chr12:10074776..18800953 [GRCh37]
Chr12:12p13.31-12.3		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1 copy number loss not provided [RCV002292878] Chr12:10853887..24103810 [GRCh37]
Chr12:12p13.2-12.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.2(chr12:11047687-11751920)x4 copy number gain See cases [RCV000510534] Chr12:11047687..11751920 [GRCh37]
Chr12:12p13.2		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1		 likely pathogenic
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 copy number gain See cases [RCV000510853] Chr12:173786..11677456 [GRCh37]
Chr12:12p13.33-13.2		 pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22		 pathogenic
NM_006248.4(PRB2):c.382= (p.Gln128=) single nucleotide variant Inborn genetic diseases [RCV003240817] Chr12:11353967 [GRCh38]
Chr12:11506901 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_006248.4(PRB2):c.1064A>T (p.Lys355Met) single nucleotide variant Inborn genetic diseases [RCV003301033] Chr12:11353294 [GRCh38]
Chr12:11506228 [GRCh37]
Chr12:12p13.2		 uncertain significance
GRCh37/hg19 12p13.2-13.1(chr12:10717428-14032860)x1 copy number loss not provided [RCV000683470] Chr12:10717428..14032860 [GRCh37]
Chr12:12p13.2-13.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.2(chr12:11329633-11776232)x3 copy number gain not provided [RCV000737776] Chr12:11329633..11776232 [GRCh37]
Chr12:12p13.2		 benign
GRCh37/hg19 12p13.2(chr12:11411923-11912896)x3 copy number gain not provided [RCV000737777] Chr12:11411923..11912896 [GRCh37]
Chr12:12p13.2		 benign
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21		 pathogenic
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3		 pathogenic
GRCh37/hg19 12p13.2-13.1(chr12:10336209-13535349) copy number loss Multiple endocrine neoplasia type 4 [RCV000767604] Chr12:10336209..13535349 [GRCh37]
Chr12:12p13.2-13.1		 pathogenic
NM_006248.4(PRB2):c.1147C>A (p.Pro383Thr) single nucleotide variant Inborn genetic diseases [RCV003271109] Chr12:11353211 [GRCh38]
Chr12:11506145 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_006248.4(PRB2):c.1204C>A (p.Pro402Thr) single nucleotide variant Inborn genetic diseases [RCV003247546] Chr12:11353154 [GRCh38]
Chr12:11506088 [GRCh37]
Chr12:12p13.2		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_006248.4(PRB2):c.4C>T (p.Leu2=) single nucleotide variant not provided [RCV000891745] Chr12:11355550 [GRCh38]
Chr12:11508484 [GRCh37]
Chr12:12p13.2		 benign
NM_006248.4(PRB2):c.439G>A (p.Gly147Ser) single nucleotide variant Inborn genetic diseases [RCV003272927] Chr12:11353910 [GRCh38]
Chr12:11506844 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_006248.4(PRB2):c.1205C>A (p.Pro402Gln) single nucleotide variant Inborn genetic diseases [RCV003241192] Chr12:11353153 [GRCh38]
Chr12:11506087 [GRCh37]
Chr12:12p13.2		 uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NM_006248.4(PRB2):c.377G>A (p.Gly126Asp) single nucleotide variant Inborn genetic diseases [RCV003294768] Chr12:11353972 [GRCh38]
Chr12:11506906 [GRCh37]
Chr12:12p13.2		 uncertain significance
GRCh37/hg19 12p13.2(chr12:11503224-11714709)x3 copy number gain not provided [RCV001006481] Chr12:11503224..11714709 [GRCh37]
Chr12:12p13.2		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.2-13.1(chr12:11463270-14019142) copy number loss Intellectual disability [RCV003320282] Chr12:11463270..14019142 [GRCh37]
Chr12:12p13.2-13.1		 pathogenic
NM_006248.4(PRB2):c.550C>T (p.Pro184Ser) single nucleotide variant Inborn genetic diseases [RCV002773620] Chr12:11353802 [GRCh38]
Chr12:11506736 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_006248.4(PRB2):c.497G>C (p.Gly166Ala) single nucleotide variant Inborn genetic diseases [RCV002906087] Chr12:11353852 [GRCh38]
Chr12:11506786 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_005039.4(PRB1):c.824G>A (p.Arg275Gln) single nucleotide variant Inborn genetic diseases [RCV002951019] Chr12:11353279 [GRCh38]
Chr12:11506213 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_006248.4(PRB2):c.952C>A (p.Pro318Thr) single nucleotide variant Inborn genetic diseases [RCV002844942] Chr12:11353406 [GRCh38]
Chr12:11506340 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_006248.4(PRB2):c.1114C>A (p.Gln372Lys) single nucleotide variant Inborn genetic diseases [RCV002888024] Chr12:11353244 [GRCh38]
Chr12:11506178 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_006248.4(PRB2):c.1003A>C (p.Lys335Gln) single nucleotide variant Inborn genetic diseases [RCV002821637] Chr12:11353355 [GRCh38]
Chr12:11506289 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_006248.4(PRB2):c.40A>G (p.Ser14Gly) single nucleotide variant Inborn genetic diseases [RCV002977747] Chr12:11355514 [GRCh38]
Chr12:11508448 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_006248.4(PRB2):c.41G>A (p.Ser14Asn) single nucleotide variant Inborn genetic diseases [RCV002757702] Chr12:11355513 [GRCh38]
Chr12:11508447 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_006248.4(PRB2):c.583C>T (p.Pro195Ser) single nucleotide variant Inborn genetic diseases [RCV002955495] Chr12:11353769 [GRCh38]
Chr12:11506703 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_006248.4(PRB2):c.995G>A (p.Gly332Glu) single nucleotide variant Inborn genetic diseases [RCV002701949] Chr12:11353363 [GRCh38]
Chr12:11506297 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_006248.4(PRB2):c.760C>A (p.Gln254Lys) single nucleotide variant Inborn genetic diseases [RCV002891809] Chr12:11353595 [GRCh38]
Chr12:11506529 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_006248.4(PRB2):c.1211G>A (p.Arg404His) single nucleotide variant Inborn genetic diseases [RCV002984879] Chr12:11353147 [GRCh38]
Chr12:11506081 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_006248.4(PRB2):c.352C>A (p.Pro118Thr) single nucleotide variant Inborn genetic diseases [RCV002873632] Chr12:11353997 [GRCh38]
Chr12:11506931 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_006248.4(PRB2):c.1121G>A (p.Gly374Asp) single nucleotide variant Inborn genetic diseases [RCV002941345] Chr12:11353237 [GRCh38]
Chr12:11506171 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_006248.4(PRB2):c.835C>G (p.Pro279Ala) single nucleotide variant Inborn genetic diseases [RCV002668692] Chr12:11353520 [GRCh38]
Chr12:11506454 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_006248.4(PRB2):c.1223G>C (p.Gly408Ala) single nucleotide variant Inborn genetic diseases [RCV002719020] Chr12:11353135 [GRCh38]
Chr12:11506069 [GRCh37]
Chr12:12p13.2		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_006248.4(PRB2):c.374G>A (p.Gly125Glu) single nucleotide variant Inborn genetic diseases [RCV003218345] Chr12:11353975 [GRCh38]
Chr12:11506909 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_006248.4(PRB2):c.925C>G (p.Pro309Ala) single nucleotide variant Inborn genetic diseases [RCV003172902] Chr12:11353433 [GRCh38]
Chr12:11506367 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_006248.4(PRB2):c.460C>T (p.Pro154Ser) single nucleotide variant Inborn genetic diseases [RCV003194468] Chr12:11353889 [GRCh38]
Chr12:11506823 [GRCh37]
Chr12:12p13.2		 uncertain significance
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.2(chr12:10588512-11788901)x3 copy number gain not provided [RCV003484864] Chr12:10588512..11788901 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_006248.4(PRB2):c.86C>T (p.Pro29Leu) single nucleotide variant not provided [RCV003396226] Chr12:11354533 [GRCh38]
Chr12:11507467 [GRCh37]
Chr12:12p13.2		 likely benign
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:436
Count of miRNA genes:191
Interacting mature miRNAs:200
Transcripts:ENST00000240636, ENST00000500254, ENST00000545626, ENST00000546254
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
D12S1808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371211,545,662 - 11,545,755UniSTSGRCh37
GRCh371211,505,942 - 11,506,035UniSTSGRCh37
Build 361211,397,209 - 11,397,302RGDNCBI36
Celera1216,648,197 - 16,648,290RGD
Celera1216,687,916 - 16,688,009UniSTS
Cytogenetic Map12p13.2UniSTS
HuRef1211,270,126 - 11,270,219UniSTS
HuRef1211,310,153 - 11,310,246UniSTS
RH66398  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371211,545,759 - 11,545,901UniSTSGRCh37
GRCh371211,506,039 - 11,506,181UniSTSGRCh37
Build 361211,397,306 - 11,397,448RGDNCBI36
Celera1216,648,294 - 16,648,436RGD
Celera1216,688,013 - 16,688,155UniSTS
Cytogenetic Map12p13.2UniSTS
HuRef1211,270,223 - 11,270,365UniSTS
HuRef1211,310,250 - 11,310,392UniSTS
GeneMap99-GB4 RH Map1253.21UniSTS
RH39754  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371211,545,758 - 11,545,895UniSTSGRCh37
GRCh371211,506,038 - 11,506,175UniSTSGRCh37
Build 361211,397,305 - 11,397,442RGDNCBI36
Celera1216,648,293 - 16,648,430RGD
Celera1216,688,012 - 16,688,149UniSTS
Cytogenetic Map12p13.2UniSTS
HuRef1211,270,222 - 11,270,359UniSTS
HuRef1211,310,249 - 11,310,386UniSTS
G41283  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371211,545,193 - 11,545,403UniSTSGRCh37
GRCh371211,505,473 - 11,505,683UniSTSGRCh37
Build 361211,396,740 - 11,396,950RGDNCBI36
Celera1216,647,728 - 16,647,938RGD
Celera1216,687,447 - 16,687,657UniSTS
Cytogenetic Map12p13.2UniSTS
RH71399  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371211,544,416 - 11,544,560UniSTSGRCh37
GRCh371211,504,697 - 11,504,841UniSTSGRCh37
Build 361211,395,964 - 11,396,108RGDNCBI36
Celera1216,646,951 - 16,647,095RGD
Celera1216,686,670 - 16,686,814UniSTS
Cytogenetic Map12p13.2UniSTS
HuRef1211,269,037 - 11,269,181UniSTS
HuRef1211,308,754 - 11,308,898UniSTS
GeneMap99-GB4 RH Map1255.23UniSTS


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 pharyngeal arch
High 2
Medium 1 2 2 2 2 1
Low 12 4 7 4 4 2 554 4 537 1 23 12 2 1 369
Below cutoff 163 190 202 81 164 30 1161 172 1650 19 405 130 54 119 738

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_005039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_160307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC238694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH001524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC141917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG216715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX485626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX487087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K03204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K03205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K03206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M97220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S52986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S62928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S62929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S62941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000240636   ⟹   ENSP00000485971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1211,351,823 - 11,355,590 (-)Ensembl
RefSeq Acc Id: ENST00000500254   ⟹   ENSP00000420826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1211,351,823 - 11,355,591 (-)Ensembl
RefSeq Acc Id: ENST00000545626   ⟹   ENSP00000444249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1211,351,823 - 11,355,586 (-)Ensembl
RefSeq Acc Id: ENST00000546254   ⟹   ENSP00000442127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1211,351,823 - 11,395,566 (-)Ensembl
RefSeq Acc Id: NR_160307
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381211,351,821 - 11,355,591 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047446043   ⟹   XP_047301999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01211,221,005 - 11,224,775 (-)NCBI
RefSeq Acc Id: XM_047446044   ⟹   XP_047302000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01211,221,005 - 11,224,775 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: ENSP00000485971   ⟸   ENST00000240636
RefSeq Acc Id: ENSP00000444249   ⟸   ENST00000545626
RefSeq Acc Id: ENSP00000442127   ⟸   ENST00000546254
RefSeq Acc Id: ENSP00000420826   ⟸   ENST00000500254
RefSeq Acc Id: XP_047302000   ⟸   XM_047446044
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047301999   ⟸   XM_047446043
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P04280-F1-model_v2 AlphaFold P04280 1-392 view protein structure

Promoters
RGD ID:7223207
Promoter ID:EPDNEW_H17348
Type:multiple initiation site
Name:PRB1_1
Description:proline rich protein BstNI subfamily 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381211,355,591 - 11,355,651EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9337 AgrOrtholog
COSMIC PRB1 COSMIC
Ensembl Genes ENSG00000251655 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
  ENSG00000275517 UniProtKB/TrEMBL
  ENSG00000282673 UniProtKB/TrEMBL
Ensembl Transcript ENST00000240636 ENTREZGENE
  ENST00000240636.10 UniProtKB/TrEMBL
  ENST00000500254.6 UniProtKB/TrEMBL
  ENST00000545626.5 UniProtKB/TrEMBL
  ENST00000612920.2 UniProtKB/TrEMBL
  ENST00000615646.4 UniProtKB/TrEMBL
  ENST00000620127.3 UniProtKB/TrEMBL
  ENST00000622081.2 UniProtKB/TrEMBL
  ENST00000625471.2 UniProtKB/TrEMBL
  ENST00000628976.2 UniProtKB/TrEMBL
  ENST00000632933.1 UniProtKB/TrEMBL
  ENST00000633958.1 UniProtKB/TrEMBL
GTEx ENSG00000251655 GTEx
  ENSG00000275517 GTEx
  ENSG00000282673 GTEx
HGNC ID HGNC:9337 ENTREZGENE
Human Proteome Map PRB1 Human Proteome Map
InterPro Pro-rich UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5542 UniProtKB/Swiss-Prot
NCBI Gene 5542 ENTREZGENE
OMIM 180989 OMIM
PANTHER BASIC SALIVARY PROLINE-RICH PROTEIN 1-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23203 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Pro-rich UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33699 PharmGKB
SMART Pro-rich UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0D9SET1_HUMAN UniProtKB/TrEMBL
  A0A0G2JM13_HUMAN UniProtKB/TrEMBL
  A0A0G2JMN8_HUMAN UniProtKB/TrEMBL
  A0A0G2JQ42_HUMAN UniProtKB/TrEMBL
  A0A0G2JR74_HUMAN UniProtKB/TrEMBL
  A0A0G2JRP6_HUMAN UniProtKB/TrEMBL
  A0A4W8X8U3_HUMAN UniProtKB/TrEMBL
  A5D903_HUMAN UniProtKB/TrEMBL
  G3V1M9 ENTREZGENE, UniProtKB/TrEMBL
  G3V1R1_HUMAN UniProtKB/TrEMBL
  P04280 ENTREZGENE, UniProtKB/Swiss-Prot
  Q86YA1_HUMAN UniProtKB/TrEMBL
UniProt Secondary G5E9X6 UniProtKB/Swiss-Prot
  Q08805 UniProtKB/Swiss-Prot
  Q15186 UniProtKB/Swiss-Prot
  Q15187 UniProtKB/Swiss-Prot
  Q15214 UniProtKB/Swiss-Prot
  Q15215 UniProtKB/Swiss-Prot
  Q16038 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-05-11 PRB1  proline rich protein BstNI subfamily 1  PRB1  proline rich protein BstNI subfamily 1 (gene/pseudogene)  Symbol and/or name change 19259463 PROVISIONAL
2019-01-15 PRB1  proline rich protein BstNI subfamily 1 (gene/pseudogene)    proline rich protein BstNI subfamily 1  Symbol and/or name change 5135510 APPROVED
2016-05-17 PRB1  proline rich protein BstNI subfamily 1    proline-rich protein BstNI subfamily 1  Symbol and/or name change 5135510 APPROVED