BOP1 (BOP1 ribosomal biogenesis factor) - Rat Genome Database

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Gene: BOP1 (BOP1 ribosomal biogenesis factor) Homo sapiens
Analyze
Symbol: BOP1
Name: BOP1 ribosomal biogenesis factor
RGD ID: 1321585
HGNC Page HGNC
Description: Exhibits RNA binding activity. Involved in regulation of cell cycle; regulation of signal transduction by p53 class mediator; and ribosomal large subunit biogenesis. Localizes to PeBoW complex; chromosome; and nucleoplasm; PARTICIPATES IN ribosome biogenesis pathway; INTERACTS WITH 5-fluorouracil; acrylamide; afimoxifene.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: block of proliferation 1; block of proliferation 1 protein; block of proliferation 1 pseudogene; KIAA0124; ribosome biogenesis protein BOP1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,262,045 - 144,291,438 (-)EnsemblGRCh38hg38GRCh38
GRCh388144,262,045 - 144,291,438 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,316,948 - 145,331,183 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,456,864 - 145,485,928 (-)NCBINCBI36hg18NCBI36
Build 348145,456,863 - 145,485,928NCBI
Celera8141,660,871 - 141,689,893 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,600,632 - 140,629,634 (-)NCBIHuRef
CHM1_18145,358,001 - 145,553,302 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8590280   PMID:9829985   PMID:11237751   PMID:11390653   PMID:11522832   PMID:11790298   PMID:12048210   PMID:12429849   PMID:12477932   PMID:15225545   PMID:15489334   PMID:15635413  
PMID:16043514   PMID:16344560   PMID:16565220   PMID:16738141   PMID:16804918   PMID:16964243   PMID:17081983   PMID:17353269   PMID:17353931   PMID:18809582   PMID:19615732   PMID:21145461  
PMID:21386990   PMID:21520196   PMID:21873635   PMID:21900206   PMID:22586326   PMID:22658674   PMID:22863883   PMID:22939629   PMID:23166591   PMID:24120868   PMID:24457600   PMID:24711643  
PMID:25332235   PMID:25665578   PMID:25693804   PMID:25825154   PMID:25900982   PMID:25921289   PMID:26186194   PMID:26601951   PMID:27248496   PMID:28077445   PMID:28514442   PMID:28675297  
PMID:28695742   PMID:28977666   PMID:29117863   PMID:29298432   PMID:29395067   PMID:29467282   PMID:29509190   PMID:29568061   PMID:29802200   PMID:30021884   PMID:30209976   PMID:30463901  
PMID:30782837   PMID:30948266   PMID:31091453   PMID:31239290   PMID:31343991   PMID:31527615   PMID:31586073   PMID:32249768   PMID:32416067   PMID:32529326   PMID:32805281   PMID:32877691  
PMID:33039351  


Genomics

Comparative Map Data
BOP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,262,045 - 144,291,438 (-)EnsemblGRCh38hg38GRCh38
GRCh388144,262,045 - 144,291,438 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,316,948 - 145,331,183 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,456,864 - 145,485,928 (-)NCBINCBI36hg18NCBI36
Build 348145,456,863 - 145,485,928NCBI
Celera8141,660,871 - 141,689,893 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,600,632 - 140,629,634 (-)NCBIHuRef
CHM1_18145,358,001 - 145,553,302 (-)NCBICHM1_1
Bop1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,337,188 - 76,361,449 (-)NCBIGRCm39mm39
GRCm39 Ensembl1576,337,189 - 76,361,477 (-)Ensembl
GRCm381576,452,988 - 76,477,249 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,452,989 - 76,477,277 (-)EnsemblGRCm38mm10GRCm38
MGSCv371576,283,426 - 76,307,699 (-)NCBIGRCm37mm9NCBIm37
MGSCv361576,280,251 - 76,304,524 (-)NCBImm8
Celera1577,953,429 - 77,977,780 (-)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1535.91NCBI
Bop1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27108,172,062 - 108,195,875 (-)NCBI
Rnor_6.0 Ensembl7117,514,533 - 117,538,342 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07117,514,529 - 117,538,342 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,502,160 - 117,525,973 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,500,155 - 114,524,030 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17114,534,386 - 114,558,260 (-)NCBI
Celera7104,523,713 - 104,547,502 (-)NCBICelera
Cytogenetic Map7q34NCBI
Bop1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,882,755 - 2,907,081 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,882,694 - 2,907,177 (-)NCBIChiLan1.0ChiLan1.0
BOP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18144,015,518 - 144,043,278 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8144,015,601 - 144,043,280 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08141,024,518 - 141,055,173 (-)NCBIMhudiblu_PPA_v0panPan3
BOP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,698,635 - 37,723,803 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,698,698 - 37,724,457 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,662,427 - 37,688,100 (-)NCBI
ROS_Cfam_1.01338,174,993 - 38,200,746 (-)NCBI
UMICH_Zoey_3.11337,847,179 - 37,871,825 (-)NCBI
UNSW_CanFamBas_1.01337,975,815 - 38,001,527 (-)NCBI
UU_Cfam_GSD_1.01338,452,110 - 38,477,850 (-)NCBI
Bop1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303524,835 - 551,088 (+)NCBI
SpeTri2.0NW_0049364707,950,952 - 7,977,186 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BOP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.14486,562 - 507,141 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24681,204 - 684,059 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BOP1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,473,377 - 138,503,715 (-)NCBI
ChlSab1.1 Ensembl8138,473,441 - 138,503,661 (-)Ensembl
Bop1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,562,734 - 12,586,544 (+)NCBI

Position Markers
WI-17683  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,486,060 - 145,486,209UniSTSGRCh37
GRCh378145,317,007 - 145,317,156UniSTSGRCh37
Build 368145,388,995 - 145,389,144RGDNCBI36
Celera8141,660,875 - 141,661,024RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,600,636 - 140,600,785UniSTS
Whitehead-RH Map8721.6UniSTS
RH25347  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q24.3UniSTS
GeneMap99-GB4 RH Map8563.39UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3270
Count of miRNA genes:951
Interacting mature miRNAs:1187
Transcripts:ENST00000307404, ENST00000524861, ENST00000525016, ENST00000526471, ENST00000526552, ENST00000529231, ENST00000529245, ENST00000530355, ENST00000533125
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 2290 2206 1355 296 1317 155 4308 2008 3229 135 1255 1454 153 1181 2780 3
Low 61 778 129 137 457 120 10 185 435 47 5 9 18 23 8 1
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_015201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB060694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC110280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC145291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC231662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC233992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI937005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE280443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ711345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ961780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D50914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA510177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000563210
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,264,934 - 144,266,086 (-)Ensembl
RefSeq Acc Id: ENST00000568812
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,262,616 - 144,263,557 (-)Ensembl
RefSeq Acc Id: ENST00000569160
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,264,544 - 144,265,459 (-)Ensembl
RefSeq Acc Id: ENST00000569403   ⟹   ENSP00000456082
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,264,342 - 144,291,370 (-)Ensembl
RefSeq Acc Id: ENST00000569669   ⟹   ENSP00000455106
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,262,045 - 144,291,438 (-)Ensembl
RefSeq Acc Id: ENST00000569712
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,281,684 - 144,291,367 (-)Ensembl
RefSeq Acc Id: NM_015201   ⟹   NP_056016
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,262,045 - 144,291,438 (-)NCBI
GRCh378145,486,056 - 145,515,120 (-)ENTREZGENE
Build 368145,456,864 - 145,485,928 (-)NCBI Archive
HuRef8140,600,632 - 140,629,634 (-)ENTREZGENE
CHM1_18145,358,001 - 145,553,302 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_056016   ⟸   NM_015201
- UniProtKB: Q14137 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000455106   ⟸   ENST00000569669
RefSeq Acc Id: ENSP00000456082   ⟸   ENST00000569403
Protein Domains
BOP1NT   WD_REPEATS_REGION

Promoters
RGD ID:7214445
Promoter ID:EPDNEW_H12969
Type:initiation region
Name:BOP1_1
Description:block of proliferation 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,291,438 - 144,291,498EPDNEW
RGD ID:6806521
Promoter ID:HG_KWN:62330
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_005526,   NM_015201,   UC003ZBU.2
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,485,031 - 145,486,857 (-)MPROMDB
RGD ID:6852902
Promoter ID:EP74269
Type:initiation region
Name:HS_BOP1
Description:Block of proliferation 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,485,879 - 145,485,939EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
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 8q24.3(chr8:144287919-144723120)x3 copy number gain See cases [RCV000052187] Chr8:144287919..144723120 [GRCh38]
Chr8:145511620..145948505 [GRCh37]
Chr8:145482428..145919314 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
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
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 8q24.3(chr8:143684819-144287978)x1 copy number loss See cases [RCV000054310] Chr8:143684819..144287978 [GRCh38]
Chr8:144940777..145511679 [GRCh37]
Chr8:144838977..145482487 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1 copy number loss See cases [RCV000134352] Chr8:144264907..144668170 [GRCh38]
Chr8:145319810..145893555 [GRCh37]
Chr8:145391798..145864363 [NCBI36]
Chr8:8q24.3
benign
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
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 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144132479-144277712)x3 copy number gain See cases [RCV000140817] Chr8:144132479..144277712 [GRCh38]
Chr8:145319810..145493555 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting data from submitters
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
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 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely 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 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
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
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144725942-145508436)x3 copy number gain See cases [RCV000447256] Chr8:144725942..145508436 [GRCh37]
Chr8:8q24.3
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 8q24.3(chr8:145487123-145554934)x3 copy number gain See cases [RCV000445849] Chr8:145487123..145554934 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
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 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
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
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
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 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
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 8q24.3(chr8:145513753-145753161)x3 copy number gain not provided [RCV000748009] Chr8:145513753..145753161 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145513753-145758661)x3 copy number gain not provided [RCV000748011] Chr8:145513753..145758661 [GRCh37]
Chr8:8q24.3
benign
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
GRCh37/hg19 8q24.3(chr8:145513753-145758635)x3 copy number gain not provided [RCV000748010] Chr8:145513753..145758635 [GRCh37]
Chr8:8q24.3
benign
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
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NC_000008.10:g.(?_144990325)_(145700664_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV000808636] Chr8:144990325..145700664 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
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 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145287199-145705521)x3 copy number gain not provided [RCV001006156] Chr8:145287199..145705521 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV001327821] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_145047561)_(145701149_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV001301200] Chr8:145047561..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15519 AgrOrtholog
COSMIC BOP1 COSMIC
Ensembl Genes ENSG00000261236 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000285301 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000455106 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000456082 UniProtKB/TrEMBL
  ENSP00000495401 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000569403 UniProtKB/TrEMBL
  ENST00000569669 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000642409 UniProtKB/Swiss-Prot
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000261236 GTEx
  ENSG00000285301 GTEx
HGNC ID HGNC:15519 ENTREZGENE
Human Proteome Map BOP1 Human Proteome Map
InterPro BOP1/Erb1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BOP1_N_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23246 UniProtKB/Swiss-Prot
NCBI Gene 23246 ENTREZGENE
OMIM 610596 OMIM
PANTHER PTHR17605 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BOP1NT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25398 PharmGKB
PROSITE WD_REPEATS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BOP1NT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A075B729_HUMAN UniProtKB/TrEMBL
  A8K3R2_HUMAN UniProtKB/TrEMBL
  B2RDN4_HUMAN UniProtKB/TrEMBL
  B4DEN9_HUMAN UniProtKB/TrEMBL
  BOP1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q4G0D9_HUMAN UniProtKB/TrEMBL
  Q6DKJ9_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q969Z6 UniProtKB/Swiss-Prot
  Q96IS8 UniProtKB/Swiss-Prot
  Q96Q25 UniProtKB/Swiss-Prot
  Q9BSA7 UniProtKB/Swiss-Prot
  Q9BVM0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-11-06 BOP1  BOP1 ribosomal biogenesis factor    block of proliferation 1  Symbol and/or name change 5135510 APPROVED