POP1 (POP1 homolog, ribonuclease P/MRP subunit) - Rat Genome Database

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Gene: POP1 (POP1 homolog, ribonuclease P/MRP subunit) Homo sapiens
Analyze
Symbol: POP1
Name: POP1 homolog, ribonuclease P/MRP subunit
RGD ID: 1318482
HGNC Page HGNC
Description: Exhibits ribonuclease P RNA binding activity. Contributes to ribonuclease P activity. Involved in tRNA 5'-leader removal and tRNA catabolic process. Localizes to nucleolar ribonuclease P complex and ribonuclease MRP complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ANXD2; hPOP1; KIAA0061; MGC17365; processing of precursor 1, ribonuclease P/MRP subunit; processing of precursors 1; ribonucleases P/MRP protein subunit POP1
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 Ensembl898,117,293 - 98,159,835 (+)EnsemblGRCh38hg38GRCh38
GRCh38898,117,293 - 98,159,835 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37899,129,521 - 99,172,063 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36899,199,244 - 99,239,816 (+)NCBINCBI36hg18NCBI36
Build 34899,199,243 - 99,239,814NCBI
Celera895,315,383 - 95,357,929 (+)NCBI
Cytogenetic Map8q22.2NCBI
HuRef894,333,090 - 94,375,569 (+)NCBIHuRef
CHM1_1899,170,273 - 99,212,813 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7584044   PMID:8918471   PMID:9405234   PMID:9725903   PMID:10199568   PMID:11455963   PMID:11694598   PMID:11790298   PMID:12477932   PMID:12483731   PMID:15096576   PMID:15302935  
PMID:15342556   PMID:15635413   PMID:16723659   PMID:17178784   PMID:19380743   PMID:20360068   PMID:20453000   PMID:21053045   PMID:21081503   PMID:21145461   PMID:21182205   PMID:21509594  
PMID:21873635   PMID:22210626   PMID:22586326   PMID:22658674   PMID:22664934   PMID:22751105   PMID:22863883   PMID:22939629   PMID:22991464   PMID:23667531   PMID:24163370   PMID:24778252  
PMID:25609649   PMID:25665578   PMID:25693804   PMID:25825154   PMID:25839653   PMID:25921289   PMID:26186194   PMID:26275995   PMID:26344197   PMID:26472760   PMID:26496610   PMID:26725010  
PMID:26949251   PMID:27248496   PMID:27380734   PMID:27684187   PMID:27926873   PMID:28067412   PMID:28514442   PMID:28515276   PMID:28695742   PMID:29229926   PMID:29467282   PMID:29507755  
PMID:29509190   PMID:29568061   PMID:29676528   PMID:29802200   PMID:29845934   PMID:30021884   PMID:30209976   PMID:30454648   PMID:30463901   PMID:30471916   PMID:30575818   PMID:30804502  
PMID:30833792   PMID:30890647   PMID:31046837   PMID:31059266   PMID:31076518   PMID:31091453   PMID:31239290   PMID:31343991   PMID:31527615   PMID:31586073   PMID:31685992   PMID:31822558  
PMID:31980649   PMID:32134183  


Genomics

Comparative Map Data
POP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl898,117,293 - 98,159,835 (+)EnsemblGRCh38hg38GRCh38
GRCh38898,117,293 - 98,159,835 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37899,129,521 - 99,172,063 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36899,199,244 - 99,239,816 (+)NCBINCBI36hg18NCBI36
Build 34899,199,243 - 99,239,814NCBI
Celera895,315,383 - 95,357,929 (+)NCBI
Cytogenetic Map8q22.2NCBI
HuRef894,333,090 - 94,375,569 (+)NCBIHuRef
CHM1_1899,170,273 - 99,212,813 (+)NCBICHM1_1
Pop1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391534,495,457 - 34,530,799 (+)NCBIGRCm39mm39
GRCm39 Ensembl1534,495,450 - 34,530,794 (+)Ensembl
GRCm381534,495,311 - 34,530,653 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1534,495,304 - 34,530,648 (+)EnsemblGRCm38mm10GRCm38
MGSCv371534,425,066 - 34,460,408 (+)NCBIGRCm37mm9NCBIm37
MGSCv361534,439,912 - 34,475,237 (+)NCBImm8
Celera1535,123,159 - 35,157,920 (+)NCBICelera
Cytogenetic Map15B3.1NCBI
Pop1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2765,705,348 - 65,733,143 (+)NCBI
Rnor_6.0 Ensembl773,270,455 - 73,298,239 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0773,270,403 - 73,298,209 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0773,436,473 - 73,473,185 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4769,944,414 - 69,979,794 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1769,965,163 - 70,000,525 (+)NCBI
Celera762,806,384 - 62,834,025 (+)NCBICelera
Cytogenetic Map7q22NCBI
Pop1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541713,823,057 - 13,856,448 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541713,823,027 - 13,856,448 (+)NCBIChiLan1.0ChiLan1.0
POP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1896,938,574 - 96,980,896 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl896,944,588 - 96,979,328 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0894,754,028 - 94,796,374 (+)NCBIMhudiblu_PPA_v0panPan3
POP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.113361,095 - 398,214 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl13361,157 - 396,628 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha13354,500 - 400,369 (+)NCBI
ROS_Cfam_1.013509,663 - 555,581 (+)NCBI
UMICH_Zoey_3.113353,061 - 398,925 (+)NCBI
UNSW_CanFamBas_1.013461,025 - 506,891 (+)NCBI
UU_Cfam_GSD_1.013467,078 - 512,927 (+)NCBI
Pop1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530337,250,693 - 37,284,328 (-)NCBI
SpeTri2.0NW_00493647044,676,798 - 44,710,397 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
POP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl438,607,706 - 38,656,151 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1438,608,536 - 38,656,204 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2441,668,276 - 41,807,928 (-)NCBISscrofa10.2Sscrofa10.2susScr3
POP1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1893,031,600 - 93,074,700 (+)NCBI
ChlSab1.1 Ensembl893,043,277 - 93,074,818 (+)Ensembl
Pop1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247635,264,003 - 5,299,000 (+)NCBI

Position Markers
D8S1778  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37899,168,088 - 99,168,293UniSTSGRCh37
Build 36899,237,264 - 99,237,469RGDNCBI36
Celera895,353,948 - 95,354,153RGD
Cytogenetic Map8q22.1UniSTS
HuRef894,371,585 - 94,371,794UniSTS
Marshfield Genetic Map8110.2RGD
Marshfield Genetic Map8110.2UniSTS
Genethon Genetic Map8108.8UniSTS
deCODE Assembly Map8104.28UniSTS
Whitehead-YAC Contig Map8 UniSTS
STS-T86935  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37899,130,024 - 99,130,268UniSTSGRCh37
Build 36899,199,200 - 99,199,444RGDNCBI36
Celera895,315,886 - 95,316,130RGD
Cytogenetic Map8q22UniSTS
Cytogenetic Map8q22.1UniSTS
HuRef894,333,593 - 94,333,837UniSTS
GeneMap99-GB4 RH Map8438.0UniSTS
NCBI RH Map81217.2UniSTS
RH66205  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37899,128,160 - 99,128,280UniSTSGRCh37
Build 36899,197,336 - 99,197,456RGDNCBI36
Celera895,314,022 - 95,314,142RGD
Cytogenetic Map8q22UniSTS
Cytogenetic Map8q22.1UniSTS
HuRef894,331,729 - 94,331,849UniSTS
GeneMap99-GB4 RH Map8435.82UniSTS
NCBI RH Map81027.7UniSTS
RH25294  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37899,170,685 - 99,170,919UniSTSGRCh37
Build 36899,239,861 - 99,240,095RGDNCBI36
Celera895,356,545 - 95,356,779RGD
Cytogenetic Map8q22.1UniSTS
HuRef894,374,185 - 94,374,419UniSTS
SHGC-152514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37899,168,125 - 99,168,424UniSTSGRCh37
Build 36899,237,301 - 99,237,600RGDNCBI36
Celera895,353,985 - 95,354,284RGD
Cytogenetic Map8q22.1UniSTS
HuRef894,371,622 - 94,371,925UniSTS
TNG Radiation Hybrid Map13687.0UniSTS
D8S1634  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37899,144,776 - 99,144,977UniSTSGRCh37
Build 36899,213,952 - 99,214,153RGDNCBI36
Celera895,330,637 - 95,330,838RGD
Cytogenetic Map8q22.1UniSTS
HuRef894,348,345 - 94,348,546UniSTS
Whitehead-YAC Contig Map8 UniSTS
RH17435  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37899,171,618 - 99,171,871UniSTSGRCh37
Build 36899,240,794 - 99,241,047RGDNCBI36
Celera895,357,478 - 95,357,731RGD
Cytogenetic Map8q22.1UniSTS
HuRef894,375,118 - 94,375,371UniSTS
GeneMap99-GB4 RH Map8442.14UniSTS
NCBI RH Map81122.7UniSTS
D8S1954  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37899,171,632 - 99,171,734UniSTSGRCh37
Build 36899,240,808 - 99,240,910RGDNCBI36
Celera895,357,492 - 95,357,594RGD
Cytogenetic Map8q22.1UniSTS
HuRef894,375,132 - 94,375,234UniSTS
GeneMap99-GB4 RH Map8443.97UniSTS
Whitehead-RH Map8577.6UniSTS
Whitehead-YAC Contig Map8 UniSTS
NCBI RH Map81016.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1236
Count of miRNA genes:815
Interacting mature miRNAs:932
Transcripts:ENST00000349693, ENST00000401707, ENST00000517435, ENST00000522319
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 135 6 31 21 595 25 255 55 130 61 192 231 9 5 3
Low 2298 2588 1691 599 1060 436 4046 2011 3500 355 1268 1380 166 1 1199 2730 6 2
Below cutoff 6 396 4 4 296 4 55 131 104 3 2 55

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK000837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF511088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP249298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP280616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D31765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X99302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000349693   ⟹   ENSP00000339529
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,117,840 - 98,158,412 (+)Ensembl
RefSeq Acc Id: ENST00000401707   ⟹   ENSP00000385787
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,117,293 - 98,159,835 (+)Ensembl
RefSeq Acc Id: ENST00000517435
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,155,958 - 98,157,667 (+)Ensembl
RefSeq Acc Id: ENST00000522319   ⟹   ENSP00000428945
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,117,297 - 98,130,040 (+)Ensembl
RefSeq Acc Id: NM_001145860   ⟹   NP_001139332
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,117,293 - 98,159,835 (+)NCBI
GRCh37899,129,521 - 99,172,069 (+)ENTREZGENE
HuRef894,333,090 - 94,375,569 (+)ENTREZGENE
CHM1_1899,170,273 - 99,212,813 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001145861   ⟹   NP_001139333
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,117,293 - 98,159,835 (+)NCBI
GRCh37899,129,521 - 99,172,069 (+)ENTREZGENE
HuRef894,333,090 - 94,375,569 (+)ENTREZGENE
CHM1_1899,170,273 - 99,212,813 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015029   ⟹   NP_055844
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,117,840 - 98,159,835 (+)NCBI
GRCh37899,129,521 - 99,172,069 (+)ENTREZGENE
Build 36899,199,244 - 99,239,816 (+)NCBI Archive
HuRef894,333,090 - 94,375,569 (+)ENTREZGENE
CHM1_1899,170,820 - 99,212,813 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516801   ⟹   XP_011515103
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,117,293 - 98,141,264 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001139332   ⟸   NM_001145860
- UniProtKB: Q99575 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001139333   ⟸   NM_001145861
- UniProtKB: Q99575 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_055844   ⟸   NM_015029
- UniProtKB: Q99575 (UniProtKB/Swiss-Prot),   Q96F88 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515103   ⟸   XM_011516801
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000339529   ⟸   ENST00000349693
RefSeq Acc Id: ENSP00000385787   ⟸   ENST00000401707
RefSeq Acc Id: ENSP00000428945   ⟸   ENST00000522319
Protein Domains
POP1   POPLD

Promoters
RGD ID:7213857
Promoter ID:EPDNEW_H12674
Type:initiation region
Name:POP1_1
Description:POP1 homolog, ribonuclease P/MRP subunit
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
GRCh38898,117,297 - 98,117,357EPDNEW
RGD ID:6806803
Promoter ID:HG_KWN:61776
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001145860,   NM_001145861,   NM_005836,   NM_015029
Position:
Human AssemblyChrPosition (strand)Source
Build 36899,198,561 - 99,199,452 (-)MPROMDB

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 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 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 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 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely 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 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 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 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
NM_001145860.2(POP1):c.163C>T (p.Arg55Ter) single nucleotide variant not provided [RCV000274726] Chr8:98127615 [GRCh38]
Chr8:99139843 [GRCh37]
Chr8:8q22.2
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
NM_001145860.2(POP1):c.1573C>T (p.Pro525Ser) single nucleotide variant Anauxetic dysplasia 2 [RCV000445637] Chr8:98140867 [GRCh38]
Chr8:99153095 [GRCh37]
Chr8:8q22.2
pathogenic|uncertain significance
NM_001145860.2(POP1):c.1748G>A (p.Gly583Glu) single nucleotide variant Anauxetic dysplasia 2 [RCV000445638] Chr8:98148852 [GRCh38]
Chr8:99161080 [GRCh37]
Chr8:8q22.2
pathogenic|uncertain significance
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
NM_001145860.2(POP1):c.2607del (p.Glu870fs) deletion Anauxetic dysplasia 2 [RCV000477720] Chr8:98157800 [GRCh38]
Chr8:99170028 [GRCh37]
Chr8:8q22.2
pathogenic
NM_001145860.2(POP1):c.1531G>T (p.Asp511Tyr) single nucleotide variant Anauxetic dysplasia 2 [RCV000477675] Chr8:98140825 [GRCh38]
Chr8:99153053 [GRCh37]
Chr8:8q22.2
pathogenic
NM_001145860.2(POP1):c.1744C>T (p.Pro582Ser) single nucleotide variant Anauxetic dysplasia 2 [RCV000477695] Chr8:98148848 [GRCh38]
Chr8:99161076 [GRCh37]
Chr8:8q22.2
pathogenic
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 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
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 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
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 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
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
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
NM_001145860.2(POP1):c.327A>G (p.Gln109=) single nucleotide variant not provided [RCV000901550] Chr8:98128381 [GRCh38]
Chr8:99140609 [GRCh37]
Chr8:8q22.2
likely benign
NM_001145860.2(POP1):c.1379A>C (p.Glu460Ala) single nucleotide variant not provided [RCV000971181] Chr8:98140094 [GRCh38]
Chr8:99152322 [GRCh37]
Chr8:8q22.2
benign
NM_001145860.2(POP1):c.1128T>A (p.Pro376=) single nucleotide variant not provided [RCV000959682] Chr8:98136598 [GRCh38]
Chr8:99148826 [GRCh37]
Chr8:8q22.2
benign
NM_001145860.2(POP1):c.27C>T (p.His9=) single nucleotide variant not provided [RCV000932011] Chr8:98123364 [GRCh38]
Chr8:99135592 [GRCh37]
Chr8:8q22.2
likely benign
NM_001145860.2(POP1):c.2428A>G (p.Lys810Glu) single nucleotide variant not provided [RCV000896645] Chr8:98157624 [GRCh38]
Chr8:99169852 [GRCh37]
Chr8:8q22.2
likely benign
NM_001145860.2(POP1):c.221A>G (p.Gln74Arg) single nucleotide variant not provided [RCV000880733] Chr8:98127673 [GRCh38]
Chr8:99139901 [GRCh37]
Chr8:8q22.2
benign
NM_001145860.2(POP1):c.1362+7G>A single nucleotide variant not provided [RCV000964502] Chr8:98136961 [GRCh38]
Chr8:99149189 [GRCh37]
Chr8:8q22.2
benign
NM_001145860.2(POP1):c.487G>A (p.Ala163Thr) single nucleotide variant not provided [RCV000910007] Chr8:98129978 [GRCh38]
Chr8:99142206 [GRCh37]
Chr8:8q22.2
likely benign
NM_001145860.2(POP1):c.933C>T (p.Ile311=) single nucleotide variant not provided [RCV000893696] Chr8:98134581 [GRCh38]
Chr8:99146809 [GRCh37]
Chr8:8q22.2
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 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001145860.2(POP1):c.2013G>C (p.Leu671=) single nucleotide variant not provided [RCV000955189] Chr8:98150595 [GRCh38]
Chr8:99162823 [GRCh37]
Chr8:8q22.2
benign
NM_001145860.2(POP1):c.258A>G (p.Gly86=) single nucleotide variant not provided [RCV000896840] Chr8:98127710 [GRCh38]
Chr8:99139938 [GRCh37]
Chr8:8q22.2
likely benign
NM_001145860.2(POP1):c.2212C>T (p.Leu738=) single nucleotide variant not provided [RCV000929998] Chr8:98156204 [GRCh38]
Chr8:99168432 [GRCh37]
Chr8:8q22.2
likely benign
NM_001145860.2(POP1):c.953C>T (p.Pro318Leu) single nucleotide variant not provided [RCV000938893] Chr8:98134601 [GRCh38]
Chr8:99146829 [GRCh37]
Chr8:8q22.2
likely benign
NM_001145860.2(POP1):c.10G>A (p.Ala4Thr) single nucleotide variant not provided [RCV000898374] Chr8:98123347 [GRCh38]
Chr8:99135575 [GRCh37]
Chr8:8q22.2
benign
NM_001145860.2(POP1):c.1113C>T (p.Ser371=) single nucleotide variant not provided [RCV000914011] Chr8:98136583 [GRCh38]
Chr8:99148811 [GRCh37]
Chr8:8q22.2
likely benign
NM_001145860.2(POP1):c.1795T>C (p.Leu599=) single nucleotide variant not provided [RCV000956651] Chr8:98148899 [GRCh38]
Chr8:99161127 [GRCh37]
Chr8:8q22.2
benign
NM_001145860.2(POP1):c.171G>A (p.Arg57=) single nucleotide variant not provided [RCV000912930] Chr8:98127623 [GRCh38]
Chr8:99139851 [GRCh37]
Chr8:8q22.2
benign
NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter) single nucleotide variant Anauxetic dysplasia 2 [RCV001330594] Chr8:98140831 [GRCh38]
Chr8:99153059 [GRCh37]
Chr8:8q22.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30129 AgrOrtholog
COSMIC POP1 COSMIC
Ensembl Genes ENSG00000104356 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000339529 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000385787 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428945 UniProtKB/TrEMBL
Ensembl Transcript ENST00000349693 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000401707 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000522319 UniProtKB/TrEMBL
GTEx ENSG00000104356 GTEx
HGNC ID HGNC:30129 ENTREZGENE
Human Proteome Map POP1 Human Proteome Map
InterPro Pop1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pop1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POPLD_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10940 UniProtKB/Swiss-Prot
NCBI Gene 10940 ENTREZGENE
OMIM 602486 OMIM
  617396 OMIM
PANTHER PTHR22731 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam POP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POPLD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134907403 PharmGKB
UniProt E5RK39_HUMAN UniProtKB/TrEMBL
  POP1_HUMAN UniProtKB/Swiss-Prot
  Q96F88 ENTREZGENE, UniProtKB/TrEMBL
  Q99575 ENTREZGENE
UniProt Secondary A8K5W9 UniProtKB/Swiss-Prot
  Q15037 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-07-14 POP1  POP1 homolog, ribonuclease P/MRP subunit    processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED
2011-08-17 POP1  processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)  POP1  processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED