RPAP2 (RNA polymerase II associated protein 2) - 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 Behavioral & Substance Use Disorder 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 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
Advanced Search (OLGA)
Gene: RPAP2 (RNA polymerase II associated protein 2) Homo sapiens
Analyze
Symbol: RPAP2
Name: RNA polymerase II associated protein 2
RGD ID: 1602679
HGNC Page HGNC:25791
Description: Enables RNA polymerase II CTD heptapeptide repeat phosphatase activity. Involved in PERK-mediated unfolded protein response and snRNA transcription. Located in cilium; cytosol; and nucleolus. Part of transcription preinitiation complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C1orf82; FLJ13150; putative RNA polymerase II subunit B1 CTD phosphatase RPAP2; RNA polymerase II-associated protein 2; Rtr1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: RPAP2P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38192,299,059 - 92,402,056 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl192,299,028 - 92,402,056 (+)Ensemblhg38GRCh38
GRCh37192,764,616 - 92,867,613 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36192,537,193 - 92,626,317 (+)NCBIBuild 36Build 36hg18NCBI36
Celera191,010,952 - 91,106,077 (+)NCBICelera
Cytogenetic Map1p22.1NCBI
HuRef190,884,969 - 90,974,879 (+)NCBIHuRef
CHM1_1192,879,299 - 92,968,461 (+)NCBICHM1_1
T2T-CHM13v2.0192,143,968 - 92,246,943 (+)NCBIT2T-CHM13v2.0
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cilium  (IDA)
cytoplasm  (IBA,IDA,IEA)
cytosol  (IDA)
nucleolus  (IDA)
nucleoplasm  (TAS)
nucleus  (IBA,IDA,IEA)
transcription preinitiation complex  (IDA)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Updating the RNA polymerase CTD code: adding gene-specific layers. Egloff S, etal., Trends Genet. 2012 Jul;28(7):333-41. doi: 10.1016/j.tig.2012.03.007. Epub 2012 May 21.
2. The writers, readers, and functions of the RNA polymerase II C-terminal domain code. Jeronimo C, etal., Chem Rev. 2013 Nov 13;113(11):8491-522. doi: 10.1021/cr4001397. Epub 2013 Jul 10.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16055720   PMID:16710414   PMID:17643375   PMID:19615732   PMID:21873635   PMID:22137580   PMID:22231121   PMID:22781759  
PMID:22990118   PMID:24656813   PMID:24981860   PMID:24997600   PMID:25071155   PMID:25281560   PMID:25544563   PMID:25639305   PMID:26186194   PMID:26496610   PMID:26638075   PMID:26673895  
PMID:26972000   PMID:27432908   PMID:27609421   PMID:27684187   PMID:28514442   PMID:28515276   PMID:28533407   PMID:28561026   PMID:28611215   PMID:29229926   PMID:29395067   PMID:30118681  
PMID:31048545   PMID:31753913   PMID:32143485   PMID:32296183   PMID:32460013   PMID:32572027   PMID:33729478   PMID:33742100   PMID:33961781   PMID:34079125   PMID:34244565   PMID:34373451  
PMID:34591612   PMID:34597346   PMID:34672954   PMID:35013218   PMID:35256949   PMID:35271311   PMID:35831314   PMID:35944360   PMID:36543142   PMID:37689310   PMID:37827155   PMID:37866880  
PMID:38280479   PMID:38580884  


Genomics

Comparative Map Data
RPAP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38192,299,059 - 92,402,056 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl192,299,028 - 92,402,056 (+)Ensemblhg38GRCh38
GRCh37192,764,616 - 92,867,613 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36192,537,193 - 92,626,317 (+)NCBIBuild 36Build 36hg18NCBI36
Celera191,010,952 - 91,106,077 (+)NCBICelera
Cytogenetic Map1p22.1NCBI
HuRef190,884,969 - 90,974,879 (+)NCBIHuRef
CHM1_1192,879,299 - 92,968,461 (+)NCBICHM1_1
T2T-CHM13v2.0192,143,968 - 92,246,943 (+)NCBIT2T-CHM13v2.0
Rpap2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395107,745,239 - 107,809,719 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5107,745,239 - 107,809,704 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm385107,597,373 - 107,661,853 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5107,597,373 - 107,661,838 (+)Ensemblmm10GRCm38
MGSCv375108,026,399 - 108,090,857 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv365107,838,037 - 107,902,138 (+)NCBIMGSCv36mm8
Celera5104,709,740 - 104,774,242 (+)NCBICelera
Cytogenetic Map5FNCBI
cM Map552.23NCBI
Rpap2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8142,253,966 - 2,332,251 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl142,253,968 - 2,332,356 (-)EnsemblGRCr8
mRatBN7.2142,109,044 - 2,187,343 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl142,109,053 - 2,187,350 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx141,987,484 - 2,065,871 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0143,289,301 - 3,367,686 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0141,985,869 - 2,064,466 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0143,125,595 - 3,204,590 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl143,124,622 - 3,204,588 (-)Ensemblrn6Rnor6.0
Rnor_5.0143,126,061 - 3,205,485 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4142,664,860 - 2,744,461 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera142,127,947 - 2,207,709 (-)NCBICelera
RGSC_v3.1142,664,860 - 2,744,461 (-)NCBI
Cytogenetic Map14p22NCBI
Rpap2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554232,101,780 - 2,195,390 (-)Ensembl
ChiLan1.0NW_0049554232,062,163 - 2,195,351 (-)NCBIChiLan1.0ChiLan1.0
RPAP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21134,634,757 - 134,722,997 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11133,774,458 - 133,877,685 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0194,962,964 - 95,102,307 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1193,701,765 - 93,790,323 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl193,701,765 - 93,790,323 (+)EnsemblpanPan2panpan1.1
RPAP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1656,564,310 - 56,644,382 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha659,264,179 - 59,343,537 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0656,941,722 - 57,021,916 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl656,873,999 - 57,021,872 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1656,621,561 - 56,701,635 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0656,600,482 - 56,680,323 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0657,060,629 - 57,140,708 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Rpap2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405058102,169,688 - 102,255,994 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365376,692,000 - 6,778,275 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RPAP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4124,690,317 - 124,773,887 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.14124,691,655 - 124,773,914 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24136,360,271 - 136,442,510 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RPAP2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12040,863,401 - 40,950,981 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2040,863,719 - 40,950,879 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366603377,056,891 - 77,145,495 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rpap2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247425,338,997 - 5,434,936 (-)NCBIHetGla 1.0HetGla 1.0hetGla2
Rpap2
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v11117,356,580 - 17,426,924 (+)NCBIRrattus_CSIRO_v1

Variants

.
Variants in RPAP2
52 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p22.1(chr1:91811903-92334237)x3 copy number gain See cases [RCV000051524] Chr1:91811903..92334237 [GRCh38]
Chr1:92277460..92799794 [GRCh37]
Chr1:92050048..92572382 [NCBI36]
Chr1:1p22.1		 uncertain significance
GRCh38/hg38 1p31.1-13.3(chr1:72661709-107456880)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|See cases [RCV000051825] Chr1:72661709..107456880 [GRCh38]
Chr1:73127392..107999502 [GRCh37]
Chr1:72899980..107801025 [NCBI36]
Chr1:1p31.1-13.3		 pathogenic
GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3 copy number gain See cases [RCV000135654] Chr1:83457325..104273917 [GRCh38]
Chr1:83923008..104816539 [GRCh37]
Chr1:83695596..104618062 [NCBI36]
Chr1:1p31.1-21.1		 pathogenic
GRCh38/hg38 1p22.1(chr1:91626400-92362203)x3 copy number gain See cases [RCV000135598] Chr1:91626400..92362203 [GRCh38]
Chr1:92091957..92827760 [GRCh37]
Chr1:91864545..92600348 [NCBI36]
Chr1:1p22.1		 uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
GRCh37/hg19 1p22.1(chr1:92752706-92772798)x3 copy number gain See cases [RCV000447707] Chr1:92752706..92772798 [GRCh37]
Chr1:1p22.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p22.1(chr1:92751767-92958556)x3 copy number gain See cases [RCV000511890] Chr1:92751767..92958556 [GRCh37]
Chr1:1p22.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_024813.3(RPAP2):c.1511G>C (p.Arg504Pro) single nucleotide variant not specified [RCV004327597] Chr1:92333446 [GRCh38]
Chr1:92799003 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.1202C>T (p.Ser401Phe) single nucleotide variant not specified [RCV004312102] Chr1:92324122 [GRCh38]
Chr1:92789679 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.1714A>G (p.Lys572Glu) single nucleotide variant not specified [RCV004287801] Chr1:92380749 [GRCh38]
Chr1:92846306 [GRCh37]
Chr1:1p22.1		 uncertain significance
GRCh37/hg19 1p22.1(chr1:92064829-92836061)x3 copy number gain not provided [RCV000684600] Chr1:92064829..92836061 [GRCh37]
Chr1:1p22.1		 uncertain significance
GRCh37/hg19 1p22.2-22.1(chr1:91668330-93539185)x3 copy number gain not provided [RCV000684599] Chr1:91668330..93539185 [GRCh37]
Chr1:1p22.2-22.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
GRCh37/hg19 1p22.1(chr1:92405898-94018197)x1 copy number loss Diamond-Blackfan anemia 6 [RCV001263220] Chr1:92405898..94018197 [GRCh37]
Chr1:1p22.1		 pathogenic
GRCh37/hg19 1p22.1(chr1:92626657-93345442) copy number loss not specified [RCV002053491] Chr1:92626657..93345442 [GRCh37]
Chr1:1p22.1		 pathogenic
NM_024813.3(RPAP2):c.1747T>C (p.Phe583Leu) single nucleotide variant not specified [RCV004313074] Chr1:92380782 [GRCh38]
Chr1:92846339 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.865G>A (p.Glu289Lys) single nucleotide variant not specified [RCV004226528] Chr1:92323785 [GRCh38]
Chr1:92789342 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.1511G>T (p.Arg504Leu) single nucleotide variant not specified [RCV004178563] Chr1:92333446 [GRCh38]
Chr1:92799003 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.208A>G (p.Ile70Val) single nucleotide variant not specified [RCV004112959] Chr1:92301564 [GRCh38]
Chr1:92767121 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.1798A>G (p.Ser600Gly) single nucleotide variant not specified [RCV004216917] Chr1:92380833 [GRCh38]
Chr1:92846390 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.209T>A (p.Ile70Asn) single nucleotide variant not specified [RCV004157763] Chr1:92301565 [GRCh38]
Chr1:92767122 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.4G>A (p.Ala2Thr) single nucleotide variant not specified [RCV004074840] Chr1:92299077 [GRCh38]
Chr1:92764634 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.1337T>C (p.Leu446Pro) single nucleotide variant not specified [RCV004147603] Chr1:92324257 [GRCh38]
Chr1:92789814 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.286A>G (p.Ile96Val) single nucleotide variant not specified [RCV004140930] Chr1:92304028 [GRCh38]
Chr1:92769585 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.38A>G (p.Lys13Arg) single nucleotide variant not specified [RCV004196796] Chr1:92299111 [GRCh38]
Chr1:92764668 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.1364A>T (p.Glu455Val) single nucleotide variant not specified [RCV004176377] Chr1:92324284 [GRCh38]
Chr1:92789841 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.862T>C (p.Cys288Arg) single nucleotide variant not specified [RCV004226135] Chr1:92323782 [GRCh38]
Chr1:92789339 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.983G>A (p.Gly328Asp) single nucleotide variant not specified [RCV004085875] Chr1:92323903 [GRCh38]
Chr1:92789460 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.281G>A (p.Arg94His) single nucleotide variant not specified [RCV004075307] Chr1:92304023 [GRCh38]
Chr1:92769580 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.268G>A (p.Val90Ile) single nucleotide variant not specified [RCV004273789] Chr1:92304010 [GRCh38]
Chr1:92769567 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.53G>A (p.Arg18His) single nucleotide variant not specified [RCV004318125] Chr1:92299126 [GRCh38]
Chr1:92764683 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.739A>G (p.Ile247Val) single nucleotide variant not specified [RCV004294726] Chr1:92323659 [GRCh38]
Chr1:92789216 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.1162G>A (p.Gly388Ser) single nucleotide variant not specified [RCV004449746] Chr1:92324082 [GRCh38]
Chr1:92789639 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.1362A>C (p.Lys454Asn) single nucleotide variant not specified [RCV004449747] Chr1:92324282 [GRCh38]
Chr1:92789839 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.1408C>T (p.Arg470Trp) single nucleotide variant not specified [RCV004449748] Chr1:92324328 [GRCh38]
Chr1:92789885 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.1510C>T (p.Arg504Cys) single nucleotide variant not specified [RCV004449749] Chr1:92333445 [GRCh38]
Chr1:92799002 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.167G>A (p.Arg56Lys) single nucleotide variant not specified [RCV004449750] Chr1:92301523 [GRCh38]
Chr1:92767080 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.1754A>T (p.Asp585Val) single nucleotide variant not specified [RCV004449752] Chr1:92380789 [GRCh38]
Chr1:92846346 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.431C>T (p.Ser144Phe) single nucleotide variant not specified [RCV004449753] Chr1:92307219 [GRCh38]
Chr1:92772776 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.640G>A (p.Asp214Asn) single nucleotide variant not specified [RCV004449754] Chr1:92323560 [GRCh38]
Chr1:92789117 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.772T>C (p.Ser258Pro) single nucleotide variant not specified [RCV004449755] Chr1:92323692 [GRCh38]
Chr1:92789249 [GRCh37]
Chr1:1p22.1		 uncertain significance
NC_000001.10:g.(?_92457801)_(92949044_?)dup duplication Neutropenia, severe congenital, 2, autosomal dominant [RCV004584074] Chr1:92457801..92949044 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.307C>G (p.Pro103Ala) single nucleotide variant not specified [RCV004665680] Chr1:92304049 [GRCh38]
Chr1:92769606 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.1068G>C (p.Gln356His) single nucleotide variant not specified [RCV004665681] Chr1:92323988 [GRCh38]
Chr1:92789545 [GRCh37]
Chr1:1p22.1		 uncertain significance
NC_000001.10:g.(?_91726847)_(93307422_?)dup duplication Diamond-Blackfan anemia [RCV004584002] Chr1:91726847..93307422 [GRCh37]
Chr1:1p22.2-22.1		 uncertain significance
NM_024813.3(RPAP2):c.1028A>C (p.Lys343Thr) single nucleotide variant not specified [RCV004860787] Chr1:92323948 [GRCh38]
Chr1:92789505 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.686C>T (p.Pro229Leu) single nucleotide variant not specified [RCV004860784] Chr1:92323606 [GRCh38]
Chr1:92789163 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.1418T>G (p.Leu473Trp) single nucleotide variant not specified [RCV004860786] Chr1:92324338 [GRCh38]
Chr1:92789895 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.1594C>T (p.Leu532Phe) single nucleotide variant not specified [RCV004860783] Chr1:92336402 [GRCh38]
Chr1:92801959 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.265G>A (p.Asp89Asn) single nucleotide variant not specified [RCV004854768] Chr1:92304007 [GRCh38]
Chr1:92769564 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.805G>C (p.Asp269His) single nucleotide variant not specified [RCV004854771] Chr1:92323725 [GRCh38]
Chr1:92789282 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.583G>A (p.Asp195Asn) single nucleotide variant not specified [RCV004854765] Chr1:92323503 [GRCh38]
Chr1:92789060 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.1159T>C (p.Tyr387His) single nucleotide variant not specified [RCV004854766] Chr1:92324079 [GRCh38]
Chr1:92789636 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.563C>T (p.Ala188Val) single nucleotide variant not specified [RCV004854767] Chr1:92323483 [GRCh38]
Chr1:92789040 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.493C>T (p.Pro165Ser) single nucleotide variant not specified [RCV004854770] Chr1:92320603 [GRCh38]
Chr1:92786160 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.173C>T (p.Ala58Val) single nucleotide variant not specified [RCV004854772] Chr1:92301529 [GRCh38]
Chr1:92767086 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.125C>T (p.Ala42Val) single nucleotide variant not specified [RCV005272245] Chr1:92301481 [GRCh38]
Chr1:92767038 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.1610G>A (p.Arg537Gln) single nucleotide variant not specified [RCV005272243] Chr1:92336418 [GRCh38]
Chr1:92801975 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.89G>A (p.Ser30Asn) single nucleotide variant not specified [RCV005272244] Chr1:92300209 [GRCh38]
Chr1:92765766 [GRCh37]
Chr1:1p22.1		 uncertain significance
NM_024813.3(RPAP2):c.1016G>C (p.Arg339Thr) single nucleotide variant not specified [RCV005272246] Chr1:92323936 [GRCh38]
Chr1:92789493 [GRCh37]
Chr1:1p22.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:5427
Count of miRNA genes:1336
Interacting mature miRNAs:1758
Transcripts:ENST00000477322, ENST00000484158, ENST00000610020
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597600156GWAS1657016_Hbasophil measurement QTL GWAS1657016 (human)4e-22basophil morphology trait (VT:0002422)19237681092376811Human
628868728GWAS2776957_H4-acetylphenol sulfate measurement QTL GWAS2776957 (human)0.00000034-acetylphenol sulfate measurement19230655992306560Human
407036737GWAS685713_Hmyeloid white cell count QTL GWAS685713 (human)3e-16myeloid white cell count19237681092376811Human
407019585GWAS668561_Hage of onset of asthma QTL GWAS668561 (human)2e-08age of onset of asthma19237681092376811Human
628441200GWAS2349429_Hlymphocyte count QTL GWAS2349429 (human)5e-12lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)19237643492376435Human
407134274GWAS783250_HC-reactive protein measurement, multiple sclerosis QTL GWAS783250 (human)9e-08C-reactive protein measurement, multiple sclerosis19236294892362949Human
597597335GWAS1654195_Hlymphocyte count QTL GWAS1654195 (human)3e-23lymphocyte count19237681092376811Human
597600151GWAS1657011_Hbasophil measurement QTL GWAS1657011 (human)6e-32basophil morphology trait (VT:0002422)19237681092376811Human
628804979GWAS2713208_Hage of onset of asthma QTL GWAS2713208 (human)2e-08age of onset of asthma19237681092376811Human
628944493GWAS2852722_Hleukocyte quantity QTL GWAS2852722 (human)3e-18leukocyte quantity19237681092376811Human
628623466GWAS2531695_HC-reactive protein measurement, multiple sclerosis QTL GWAS2531695 (human)9e-08C-reactive protein amount (VT:0010036)blood C-reactive protein level (CMO:0003160)19236294892362949Human
616568788GWAS1965371_HCD86 molecule level QTL GWAS1965371 (human)6e-33CD86 molecule level19237681092376811Human
628464993GWAS2373222_Hblood protein amount QTL GWAS2373222 (human)1e-19blood protein amount19237681092376811Human
628992104GWAS2900333_Hbasophil measurement QTL GWAS2900333 (human)5e-17basophil morphology trait (VT:0002422)19237681092376811Human
597610633GWAS1667493_Hmonocyte count QTL GWAS1667493 (human)1e-226monocyte count19237681092376811Human
2292793PRSTS24_HProstate tumor susceptibility QTL 24 (human)Prostate tumor susceptibilitylate onset16853299294532992Human
628958048GWAS2866277_Hmonocyte count QTL GWAS2866277 (human)4e-194monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)19237681092376811Human
597083784GWAS1179858_Hmyeloid white cell count QTL GWAS1179858 (human)3e-16myeloid white cell count19237681092376811Human
597580223GWAS1637083_Hlymphocyte count QTL GWAS1637083 (human)3e-15lymphocyte count19237681092376811Human
407106663GWAS755639_Hneutrophil percentage of leukocytes QTL GWAS755639 (human)1e-16neutrophil percentage of leukocytes19230088192300882Human
616563428GWAS1960011_Hblood protein amount QTL GWAS1960011 (human)3e-24blood protein amount19230088192300882Human
628464989GWAS2373218_Hblood protein amount QTL GWAS2373218 (human)8e-19blood protein amount19237681092376811Human
407245162GWAS894138_Hneutrophil-to-lymphocyte ratio QTL GWAS894138 (human)2e-13neutrophil-to-lymphocyte ratio19237681092376811Human
628714324GWAS2622553_Hlevel of T-cell surface glycoprotein CD1c in blood serum QTL GWAS2622553 (human)6e-14level of T-cell surface glycoprotein CD1c in blood serum19237681092376811Human
597609902GWAS1666762_Hbasophil measurement QTL GWAS1666762 (human)9e-56basophil measurement19237681092376811Human
617116152GWAS2133651_Hlevel of T-cell surface glycoprotein CD1c in blood serum QTL GWAS2133651 (human)6e-14level of T-cell surface glycoprotein CD1c in blood serum19237681092376811Human
597211818GWAS1307892_Hblood protein measurement QTL GWAS1307892 (human)1e-19blood protein measurement19237681092376811Human
597145005GWAS1241079_Hage of onset of asthma QTL GWAS1241079 (human)2e-08age of onset of asthma19237681092376811Human
407204990GWAS853966_Hblood protein measurement QTL GWAS853966 (human)8e-19blood protein measurement19237681092376811Human
597238434GWAS1334508_Hlymphocyte:monocyte ratio QTL GWAS1334508 (human)9e-220lymphocyte:monocyte ratio19237681092376811Human
597602978GWAS1659838_Hmonocyte count QTL GWAS1659838 (human)8e-15monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)19237681092376811Human
597211814GWAS1307888_Hblood protein measurement QTL GWAS1307888 (human)8e-19blood protein measurement19237681092376811Human
628811333GWAS2719562_Hneutrophil percentage of leukocytes QTL GWAS2719562 (human)2e-14neutrophil quantity (VT:0000222)blood neutrophil count to total leukocyte count ratio (CMO:0000370)19236465892364659Human
616544255GWAS1940838_Hlevel of T-cell surface glycoprotein CD1c in blood serum QTL GWAS1940838 (human)6e-14level of T-cell surface glycoprotein CD1c in blood serum19237681092376811Human
407297026GWAS946002_Hlymphocyte count QTL GWAS946002 (human)7e-10lymphocyte count19237643492376435Human
628937269GWAS2845498_Hleukocyte quantity QTL GWAS2845498 (human)4e-23leukocyte quantity19237681092376811Human
628822576GWAS2730805_Hleukocyte quantity QTL GWAS2730805 (human)5e-10leukocyte quantity19237681092376811Human
628961329GWAS2869558_Hlymphocyte count QTL GWAS2869558 (human)3e-15basophil morphology trait (VT:0002422)blood lymphocyte count (CMO:0000031)19237681092376811Human
406957838GWAS606814_Hgranulocyte percentage of myeloid white cells QTL GWAS606814 (human)3e-34granulocyte quantity (VT:0000334)19230088192300882Human
597605841GWAS1662701_Hleukocyte count QTL GWAS1662701 (human)4e-23leukocyte count19237681092376811Human
407236630GWAS885606_Hlymphocyte:monocyte ratio QTL GWAS885606 (human)5e-08lymphocyte:monocyte ratio19235731392357314Human
617092507GWAS2110006_Hneutrophil percentage of leukocytes QTL GWAS2110006 (human)2e-14neutrophil percentage of leukocytes19236465892364659Human
597254081GWAS1350155_Htype 1 diabetes mellitus QTL GWAS1350155 (human)1e-08type 1 diabetes mellitus19235814192358142Human
628776995GWAS2685224_Htype 1 diabetes mellitus QTL GWAS2685224 (human)1e-08type 1 diabetes mellitus19235814192358142Human
628953117GWAS2861346_Hmonocyte count QTL GWAS2861346 (human)1e-226monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)19237681092376811Human
628948766GWAS2856995_Hbasophil measurement QTL GWAS2856995 (human)2e-27basophil morphology trait (VT:0002422)19237681092376811Human
617118636GWAS2136135_HCD86 molecule level QTL GWAS2136135 (human)6e-33CD86 molecule level19237681092376811Human
628786708GWAS2694937_Hmonocyte count QTL GWAS2694937 (human)5e-176monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)19237681092376811Human
616507599GWAS1904182_Hblood protein amount QTL GWAS1904182 (human)2e-72blood protein amount19237681092376811Human
598041047GWAS1760346_Hleukocyte quantity QTL GWAS1760346 (human)4e-23leukocyte quantity19237681092376811Human
597195243GWAS1291317_Htelomere length QTL GWAS1291317 (human)3e-24telomere length19237681092376811Human
628957449GWAS2865678_Hmonocyte count QTL GWAS2865678 (human)2e-299monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)19237681092376811Human
597314543GWAS1410617_Hleukocyte count QTL GWAS1410617 (human)5e-10leukocyte count19237681092376811Human
617138110GWAS2155609_Hblood protein amount QTL GWAS2155609 (human)3e-24blood protein amount19230088192300882Human
616507592GWAS1904175_Hblood protein amount QTL GWAS1904175 (human)1e-19blood protein amount19237681092376811Human
2316890GLUCO302_HGlucose level QTL 302 (human)0.005Glucose level16853299294532992Human
2289499BW445_HBody weight QTL 445 (human)2.26Body morphometrywaist to hip ratio16853299294532992Human
616507588GWAS1904171_Hblood protein amount QTL GWAS1904171 (human)8e-19blood protein amount19237681092376811Human
628549130GWAS2457359_Hblood protein amount QTL GWAS2457359 (human)3e-24blood protein amount19230088192300882Human
597082856GWAS1178930_Hlymphocyte count QTL GWAS1178930 (human)7e-10lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)19237643492376435Human
597101800GWAS1197874_Hneutrophil percentage of leukocytes QTL GWAS1197874 (human)1e-16neutrophil quantity (VT:0000222)blood neutrophil count to total leukocyte count ratio (CMO:0000370)19230088192300882Human
628735481GWAS2643710_Hlymphocyte:monocyte ratio QTL GWAS2643710 (human)5e-08leukocyte quantity (VT:0000217)19235731392357314Human
597609502GWAS1666362_Hmonocyte count QTL GWAS1666362 (human)4e-194monocyte count19237681092376811Human
628956925GWAS2865154_Hmonocyte count QTL GWAS2865154 (human)6e-249monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)19237681092376811Human
597138706GWAS1234780_H4-acetylphenol sulfate measurement QTL GWAS1234780 (human)0.00000034-acetylphenol sulfate measurement19230655992306560Human
597610519GWAS1667379_Hleukocyte count QTL GWAS1667379 (human)3e-18leukocyte count19237681092376811Human
407232200GWAS881176_Htype 1 diabetes mellitus QTL GWAS881176 (human)1e-08type 1 diabetes mellitus19235814192358142Human
628783863GWAS2692092_Hlymphocyte:monocyte ratio QTL GWAS2692092 (human)9e-220leukocyte quantity (VT:0000217)19237681092376811Human
597600522GWAS1657382_Hbasophil measurement QTL GWAS1657382 (human)4e-39basophil morphology trait (VT:0002422)19237681092376811Human
616382249GWAS1862491_Hobsolete_blood protein measurement QTL GWAS1862491 (human)2e-72obsolete_blood protein measurement19237681092376811Human
628947432GWAS2855661_Hbasophil measurement QTL GWAS2855661 (human)3e-42basophil morphology trait (VT:0002422)19237681092376811Human
617139293GWAS2156792_Hmatrix extracellular phosphoglycoprotein amount QTL GWAS2156792 (human)4e-19matrix extracellular phosphoglycoprotein amount19238823692388237Human
628948970GWAS2857199_Hbasophil measurement QTL GWAS2857199 (human)9e-56basophil morphology trait (VT:0002422)19237681092376811Human
597608195GWAS1665055_Hbasophil measurement QTL GWAS1665055 (human)3e-17basophil measurement19237681092376811Human
616382242GWAS1862484_Hobsolete_blood protein measurement QTL GWAS1862484 (human)1e-19obsolete_blood protein measurement19237681092376811Human
597079604GWAS1175678_Hmyeloid white cell count QTL GWAS1175678 (human)5e-18myeloid white cell count19237681092376811Human
616382238GWAS1862480_Hobsolete_blood protein measurement QTL GWAS1862480 (human)8e-19obsolete_blood protein measurement19237681092376811Human
616566116GWAS1962699_Hmatrix extracellular phosphoglycoprotein amount QTL GWAS1962699 (human)4e-19matrix extracellular phosphoglycoprotein amount19238823692388237Human
597599291GWAS1656151_Hbasophil measurement QTL GWAS1656151 (human)5e-17basophil measurement19237681092376811Human
597608504GWAS1665364_Hbasophil measurement QTL GWAS1665364 (human)2e-27basophil measurement19237681092376811Human
1559226SLEP4_HSerum leptin concentration QTL 4 (human)3.4Hormone levelleptin181532913107532913Human
597589296GWAS1646156_Hmonocyte count QTL GWAS1646156 (human)2e-299monocyte count19237681092376811Human
628715991GWAS2624220_HCD86 molecule level QTL GWAS2624220 (human)6e-33CD86 molecule level19237681092376811Human
628948942GWAS2857171_Hbasophil measurement QTL GWAS2857171 (human)3e-17basophil morphology trait (VT:0002422)19237681092376811Human
407192830GWAS841806_Hmonocyte count QTL GWAS841806 (human)5e-176monocyte count19237681092376811Human
598040862GWAS1760161_Hleukocyte quantity QTL GWAS1760161 (human)3e-18leukocyte quantity19237681092376811Human
596980778GWAS1100297_Htelomere length QTL GWAS1100297 (human)3e-24telomere length19237681092376811Human
628959933GWAS2868162_Hmonocyte count QTL GWAS2868162 (human)5e-304monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)19237681092376811Human
597603674GWAS1660534_Hmonocyte count QTL GWAS1660534 (human)1e-323monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)19237681092376811Human
597248094GWAS1344168_Hlymphocyte:monocyte ratio QTL GWAS1344168 (human)5e-08lymphocyte:monocyte ratio19235731392357314Human
407204994GWAS853970_Hblood protein measurement QTL GWAS853970 (human)1e-19blood protein measurement19237681092376811Human
406913676GWAS562652_H4-acetylphenol sulfate measurement QTL GWAS562652 (human)0.00000034-acetylphenol sulfate measurement19230655992306560Human
597031002GWAS1127076_HC-reactive protein measurement, multiple sclerosis QTL GWAS1127076 (human)9e-08C-reactive protein measurement, multiple sclerosis19236294892362949Human
407205002GWAS853978_Hblood protein measurement QTL GWAS853978 (human)2e-72blood protein measurement19237681092376811Human
407238026GWAS887002_Hlymphocyte:monocyte ratio QTL GWAS887002 (human)9e-220lymphocyte:monocyte ratio19237681092376811Human
597610065GWAS1666925_Hmonocyte count QTL GWAS1666925 (human)6e-249monocyte count19237681092376811Human
628465056GWAS2373285_Hblood protein amount QTL GWAS2373285 (human)2e-72blood protein amount19237681092376811Human
407034004GWAS682980_Hmyeloid white cell count QTL GWAS682980 (human)5e-18myeloid white cell count19237681092376811Human
407336094GWAS985070_Hleukocyte count QTL GWAS985070 (human)5e-10leukocyte count19237681092376811Human
597237826GWAS1333900_Hneutrophil-to-lymphocyte ratio QTL GWAS1333900 (human)2e-13neutrophil-to-lymphocyte ratio19237681092376811Human
597608257GWAS1665117_Hbasophil measurement QTL GWAS1665117 (human)3e-42basophil measurement19237681092376811Human
628778395GWAS2686624_Hneutrophil-to-lymphocyte ratio QTL GWAS2686624 (human)2e-13neutrophil quantity (VT:0000222)19237681092376811Human
597238397GWAS1334471_Hmonocyte count QTL GWAS1334471 (human)5e-176monocyte count19237681092376811Human
597601915GWAS1658775_Hmonocyte count QTL GWAS1658775 (human)6e-15monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)19237681092376811Human
406971046GWAS620022_Hmonocyte count QTL GWAS620022 (human)1e-20monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)19230088192300882Human
598086735GWAS1806034_Hchromosome, telomeric region length QTL GWAS1806034 (human)3e-24chromosome, telomeric region length19237681092376811Human
597602677GWAS1659537_Hmonocyte count QTL GWAS1659537 (human)8e-24monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)19237681092376811Human
598015311GWAS1734610_Hmyeloid leukocyte count QTL GWAS1734610 (human)5e-18myeloid leukocyte count19237681092376811Human
598090061GWAS1809360_Hleukocyte quantity QTL GWAS1809360 (human)5e-10leukocyte quantity19237681092376811Human
598017865GWAS1737164_Hmyeloid leukocyte count QTL GWAS1737164 (human)3e-16myeloid leukocyte count19237681092376811Human
597212009GWAS1308083_Hblood protein measurement QTL GWAS1308083 (human)2e-72blood protein measurement19237681092376811Human
406893748GWAS542724_Hneutrophil percentage of leukocytes QTL GWAS542724 (human)2e-11neutrophil quantity (VT:0000222)blood neutrophil count to total leukocyte count ratio (CMO:0000370)19230088192300882Human
407250352GWAS899328_Hlymphocyte count QTL GWAS899328 (human)5e-12lymphocyte count19237643492376435Human
597589348GWAS1646208_Hmonocyte count QTL GWAS1646208 (human)5e-304monocyte count19237681092376811Human
1581539BP75_HBlood pressure QTL 75 (human)2.40.001Blood pressurepulse pressure16853299294532992Human
628991361GWAS2899590_Hlymphocyte count QTL GWAS2899590 (human)3e-23lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)19237681092376811Human
616524610GWAS1921193_Hneutrophil percentage of leukocytes QTL GWAS1921193 (human)2e-14neutrophil percentage of leukocytes19236465892364659Human

Markers in Region
AL009350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37192,800,729 - 92,800,918UniSTSGRCh37
Build 36192,573,317 - 92,573,506RGDNCBI36
Celera191,047,155 - 91,047,344RGD
Cytogenetic Map1p22.1UniSTS
HuRef190,921,896 - 90,922,085UniSTS
D1S2246  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37192,852,949 - 92,853,065UniSTSGRCh37
Build 36192,625,537 - 92,625,653RGDNCBI36
Celera191,105,294 - 91,105,410RGD
Cytogenetic Map1p22.1UniSTS
HuRef190,974,096 - 90,974,212UniSTS
GeneMap99-GB4 RH Map1259.64UniSTS
NCBI RH Map1645.1UniSTS
AL033567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37192,817,668 - 92,817,759UniSTSGRCh37
Build 36192,590,256 - 92,590,347RGDNCBI36
Celera191,064,092 - 91,064,183RGD
Cytogenetic Map1p22.1UniSTS
HuRef190,938,824 - 90,938,915UniSTS
RH103075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37192,852,611 - 92,852,758UniSTSGRCh37
Build 36192,625,199 - 92,625,346RGDNCBI36
Celera191,104,956 - 91,105,103RGD
Cytogenetic Map1p22.1UniSTS
HuRef190,973,758 - 90,973,905UniSTS
GeneMap99-GB4 RH Map1259.64UniSTS
RH123892  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37192,814,238 - 92,814,564UniSTSGRCh37
Build 36192,586,826 - 92,587,152RGDNCBI36
Celera191,060,664 - 91,060,990RGD
Cytogenetic Map1p22.1UniSTS
HuRef190,935,396 - 90,935,722UniSTS
TNG Radiation Hybrid Map150535.0UniSTS
RH123904  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37192,814,365 - 92,814,636UniSTSGRCh37
Build 36192,586,953 - 92,587,224RGDNCBI36
Celera191,060,791 - 91,061,062RGD
Cytogenetic Map1p22.1UniSTS
HuRef190,935,523 - 90,935,794UniSTS
TNG Radiation Hybrid Map150539.0UniSTS
SHGC-31200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37192,822,683 - 92,822,826UniSTSGRCh37
Build 36192,595,271 - 92,595,414RGDNCBI36
Celera191,069,109 - 91,069,252RGD
Cytogenetic Map1p22.1UniSTS
HuRef190,943,841 - 90,943,984UniSTS
Stanford-G3 RH Map14491.0UniSTS
GeneMap99-GB4 RH Map1263.67UniSTS
GeneMap99-GB4 RH Map1259.64UniSTS
Whitehead-RH Map1272.7UniSTS
NCBI RH Map1652.0UniSTS
GeneMap99-G3 RH Map14447.0UniSTS
RH69967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37192,827,035 - 92,827,160UniSTSGRCh37
Build 36192,599,623 - 92,599,748RGDNCBI36
Celera191,073,460 - 91,073,585RGD
Cytogenetic Map1p22.1UniSTS
HuRef190,948,190 - 90,948,315UniSTS
GeneMap99-GB4 RH Map1258.1UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4942 1723 2345 4 622 1948 464 2268 7281 6454 52 3708 847 1731 1612 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_024813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005271223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_246295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC104456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI612918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL451010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000477322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,333,242 - 92,387,233 (+)Ensembl
Ensembl Acc Id: ENST00000484158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,299,085 - 92,324,084 (+)Ensembl
Ensembl Acc Id: ENST00000610020   ⟹   ENSP00000476948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,299,059 - 92,402,056 (+)Ensembl
Ensembl Acc Id: ENST00000885052   ⟹   ENSP00000555111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,299,036 - 92,388,159 (+)Ensembl
Ensembl Acc Id: ENST00000915697   ⟹   ENSP00000585756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,299,042 - 92,387,432 (+)Ensembl
Ensembl Acc Id: ENST00000915698   ⟹   ENSP00000585757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,299,052 - 92,387,327 (+)Ensembl
Ensembl Acc Id: ENST00000957710   ⟹   ENSP00000627769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,299,052 - 92,388,377 (+)Ensembl
Ensembl Acc Id: ENST00000957711   ⟹   ENSP00000627770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,299,039 - 92,388,218 (+)Ensembl
Ensembl Acc Id: ENST00000957712   ⟹   ENSP00000627771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,299,043 - 92,388,169 (+)Ensembl
Ensembl Acc Id: ENST00000957713   ⟹   ENSP00000627772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,299,028 - 92,387,323 (+)Ensembl
Ensembl Acc Id: ENST00000957714   ⟹   ENSP00000627773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,299,059 - 92,387,315 (+)Ensembl
RefSeq Acc Id: NM_024813   ⟹   NP_079089
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38192,299,059 - 92,402,056 (+)NCBI
GRCh37192,764,522 - 92,853,732 (+)RGD
Build 36192,537,193 - 92,626,317 (+)NCBI Archive
Celera191,010,952 - 91,106,077 (+)RGD
HuRef190,884,969 - 90,974,879 (+)ENTREZGENE
CHM1_1192,879,299 - 92,968,461 (+)NCBI
T2T-CHM13v2.0192,143,968 - 92,246,943 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542167   ⟹   XP_011540469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38192,299,059 - 92,351,876 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002363   ⟹   XP_016857852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38192,299,059 - 92,357,898 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002364   ⟹   XP_016857853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38192,299,059 - 92,350,693 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047430820   ⟹   XP_047286776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38192,299,059 - 92,380,873 (+)NCBI
RefSeq Acc Id: XM_054338798   ⟹   XP_054194773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0192,143,968 - 92,225,758 (+)NCBI
RefSeq Acc Id: XM_054338799   ⟹   XP_054194774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0192,143,968 - 92,202,801 (+)NCBI
RefSeq Acc Id: XM_054338800   ⟹   XP_054194775
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0192,143,968 - 92,202,453 (+)NCBI
RefSeq Acc Id: XM_054338801   ⟹   XP_054194776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0192,143,968 - 92,195,596 (+)NCBI
RefSeq Acc Id: NP_079089   ⟸   NM_024813
- UniProtKB: Q49AS7 (UniProtKB/Swiss-Prot),   C9JKB5 (UniProtKB/Swiss-Prot),   Q9H8Y2 (UniProtKB/Swiss-Prot),   Q8IXW5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011540469   ⟸   XM_011542167
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016857852   ⟸   XM_017002363
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016857853   ⟸   XM_017002364
- Peptide Label: isoform X4
- Sequence:
Ensembl Acc Id: ENSP00000476948   ⟸   ENST00000610020
RefSeq Acc Id: XP_047286776   ⟸   XM_047430820
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054194773   ⟸   XM_054338798
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054194774   ⟸   XM_054338799
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054194775   ⟸   XM_054338800
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054194776   ⟸   XM_054338801
- Peptide Label: isoform X4
Ensembl Acc Id: ENSP00000627771   ⟸   ENST00000957712
Ensembl Acc Id: ENSP00000627773   ⟸   ENST00000957714
Ensembl Acc Id: ENSP00000627769   ⟸   ENST00000957710
Ensembl Acc Id: ENSP00000627770   ⟸   ENST00000957711
Ensembl Acc Id: ENSP00000585756   ⟸   ENST00000915697
Ensembl Acc Id: ENSP00000627772   ⟸   ENST00000957713
Ensembl Acc Id: ENSP00000585757   ⟸   ENST00000915698
Ensembl Acc Id: ENSP00000555111   ⟸   ENST00000885052

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IXW5-F1-model_v2 AlphaFold Q8IXW5 1-612 view protein structure

Promoters
RGD ID:6856214
Promoter ID:EPDNEW_H1272
Type:initiation region
Name:RPAP2_1
Description:RNA polymerase II associated protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1268  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38192,299,059 - 92,299,119EPDNEW
RGD ID:6786737
Promoter ID:HG_KWN:3633
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000394482,   NM_024813,   OTTHUMT00000028369,   UC009WDH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36192,536,829 - 92,537,329 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25791 AgrOrtholog
COSMIC RPAP2 COSMIC
Ensembl Genes ENSG00000122484 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000610020 ENTREZGENE
  ENST00000610020.2 UniProtKB/Swiss-Prot
  ENST00000915697 ENTREZGENE
Gene3D-CATH 1.25.40.820 UniProtKB/Swiss-Prot
GTEx ENSG00000122484 GTEx
HGNC ID HGNC:25791 ENTREZGENE
Human Proteome Map RPAP2 Human Proteome Map
InterPro Rtr1/RPAP2 UniProtKB/Swiss-Prot
  Rtr1/RPAP2_dom UniProtKB/Swiss-Prot
  Rtr1/RPAP2_sf UniProtKB/Swiss-Prot
KEGG Report hsa:79871 UniProtKB/Swiss-Prot
NCBI Gene 79871 ENTREZGENE
OMIM 611476 OMIM
PANTHER PTHR14732 UniProtKB/Swiss-Prot
  RNA POLYMERASE II SUBUNIT B1 CTD PHOSPHATASE RPAP2-RELATED UniProtKB/Swiss-Prot
Pfam RPAP2_Rtr1 UniProtKB/Swiss-Prot
PharmGKB PA162401981 PharmGKB
PROSITE ZF_RTR1 UniProtKB/Swiss-Prot
UniProt C9JKB5 ENTREZGENE
  Q49AS7 ENTREZGENE
  Q8IXW5 ENTREZGENE
  Q9H8Y2 ENTREZGENE
  RPAP2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary C9JKB5 UniProtKB/Swiss-Prot
  Q49AS7 UniProtKB/Swiss-Prot
  Q9H8Y2 UniProtKB/Swiss-Prot