RRP1B (ribosomal RNA processing 1B) - Rat Genome Database

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Gene: RRP1B (ribosomal RNA processing 1B) Homo sapiens
Analyze
Symbol: RRP1B
Name: ribosomal RNA processing 1B
RGD ID: 1313777
HGNC Page HGNC:23818
Description: Enables transcription coactivator activity. Involved in cellular response to virus; positive regulation of apoptotic process; and positive regulation of transcription by RNA polymerase II. Located in chromosome; granular component; and nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: KIAA0179; Nnp1; NNP1L; PPP1R136; ribosomal RNA processing 1 homolog B; ribosomal RNA processing protein 1 homolog B; RRP1; RRP1-like protein B
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382143,659,560 - 43,696,079 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2143,659,560 - 43,696,079 (+)EnsemblGRCh38hg38GRCh38
GRCh372145,079,441 - 45,115,960 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362143,903,860 - 43,940,388 (+)NCBINCBI36Build 36hg18NCBI36
Build 342143,903,859 - 43,940,386NCBI
Celera2130,185,262 - 30,221,795 (+)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2130,447,279 - 30,483,760 (+)NCBIHuRef
CHM1_12144,640,173 - 44,676,715 (+)NCBICHM1_1
T2T-CHM13v2.02142,015,103 - 42,051,622 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8724849   PMID:10637318   PMID:11790298   PMID:12429849   PMID:12477932   PMID:14702039   PMID:15174051   PMID:15231747   PMID:15489334   PMID:15635413   PMID:16565220   PMID:16780588  
PMID:16964243   PMID:17081983   PMID:18029348   PMID:18081427   PMID:19322201   PMID:19389623   PMID:19710015   PMID:19825179   PMID:20040599   PMID:20379614   PMID:20926688   PMID:21145461  
PMID:21182205   PMID:21873635   PMID:21907836   PMID:22113938   PMID:22552340   PMID:22586326   PMID:22658674   PMID:22681889   PMID:23080069   PMID:23443559   PMID:23455922   PMID:23537643  
PMID:23602568   PMID:23604122   PMID:24260471   PMID:24366813   PMID:24457600   PMID:24711643   PMID:24778252   PMID:24927568   PMID:24981860   PMID:25017104   PMID:25092915   PMID:25277657  
PMID:25659154   PMID:25665578   PMID:25693804   PMID:25798074   PMID:25825154   PMID:25921289   PMID:26167880   PMID:26186194   PMID:26311876   PMID:26496610   PMID:26511642   PMID:26725010  
PMID:26901824   PMID:27025967   PMID:27049334   PMID:27173435   PMID:27248496   PMID:27684187   PMID:27880917   PMID:28330616   PMID:28416769   PMID:28514442   PMID:28515276   PMID:28675297  
PMID:28977666   PMID:29180619   PMID:29298432   PMID:29395067   PMID:29478914   PMID:29507755   PMID:29509190   PMID:29564676   PMID:29568061   PMID:29764992   PMID:29802200   PMID:29845934  
PMID:29911972   PMID:30021884   PMID:30209976   PMID:30344098   PMID:30415952   PMID:30425250   PMID:30463901   PMID:30554943   PMID:30585729   PMID:30804502   PMID:30833792   PMID:30948266  
PMID:31048545   PMID:31059266   PMID:31091453   PMID:31239290   PMID:31363146   PMID:31527615   PMID:31586073   PMID:31665637   PMID:31822558   PMID:31871319   PMID:32129710   PMID:32460013  
PMID:32538781   PMID:32687490   PMID:32707033   PMID:32780723   PMID:32807901   PMID:32877691   PMID:32994395   PMID:33080218   PMID:33301849   PMID:33306668   PMID:33545068   PMID:33658012  
PMID:33729478   PMID:33777788   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34244482   PMID:34244565   PMID:34650049   PMID:34718347   PMID:34728620   PMID:34901782   PMID:35013218  
PMID:35140242   PMID:35182466   PMID:35235311   PMID:35271311   PMID:35384245   PMID:35439318   PMID:35487060   PMID:35509820   PMID:35652658   PMID:35681168   PMID:35819319   PMID:35850772  
PMID:35944360   PMID:36057605   PMID:36089195   PMID:36114006   PMID:36168627   PMID:36215168   PMID:36244648   PMID:36273042   PMID:36373674   PMID:36424410   PMID:36526897   PMID:36538041  
PMID:36574265   PMID:36736316   PMID:36912080   PMID:36964488   PMID:37616343   PMID:37689310   PMID:37827155   PMID:38113892   PMID:38172120  


Genomics

Comparative Map Data
RRP1B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382143,659,560 - 43,696,079 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2143,659,560 - 43,696,079 (+)EnsemblGRCh38hg38GRCh38
GRCh372145,079,441 - 45,115,960 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362143,903,860 - 43,940,388 (+)NCBINCBI36Build 36hg18NCBI36
Build 342143,903,859 - 43,940,386NCBI
Celera2130,185,262 - 30,221,795 (+)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2130,447,279 - 30,483,760 (+)NCBIHuRef
CHM1_12144,640,173 - 44,676,715 (+)NCBICHM1_1
T2T-CHM13v2.02142,015,103 - 42,051,622 (+)NCBIT2T-CHM13v2.0
Rrp1b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391732,255,087 - 32,281,839 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1732,255,074 - 32,281,839 (+)EnsemblGRCm39 Ensembl
GRCm381732,036,162 - 32,062,865 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1732,036,100 - 32,062,865 (+)EnsemblGRCm38mm10GRCm38
MGSCv371732,173,107 - 32,199,807 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361731,765,265 - 31,789,709 (+)NCBIMGSCv36mm8
Celera1732,952,734 - 32,979,435 (+)NCBICelera
Cytogenetic Map17B1NCBI
cM Map1717.34NCBI
Rrp1b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82010,122,825 - 10,148,404 (+)NCBIGRCr8
mRatBN7.22010,123,111 - 10,148,704 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2010,123,125 - 10,147,928 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.02010,844,234 - 10,869,830 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2010,844,266 - 10,869,821 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02013,016,065 - 13,041,641 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42010,454,161 - 10,478,482 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12010,454,391 - 10,477,785 (+)NCBI
Celera2011,633,485 - 11,659,795 (+)NCBICelera
Cytogenetic Map20p12NCBI
Rrp1b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540738,553,814 - 38,577,465 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540738,553,866 - 38,577,547 (-)NCBIChiLan1.0ChiLan1.0
RRP1B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22239,665,934 - 39,702,638 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12134,516,644 - 34,553,263 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02129,916,109 - 29,952,749 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12143,217,516 - 43,251,192 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2143,217,516 - 43,251,192 (+)Ensemblpanpan1.1panPan2
RRP1B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13137,652,584 - 37,670,396 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3137,652,863 - 37,667,895 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3136,799,783 - 36,824,798 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03137,188,500 - 37,213,308 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3137,188,492 - 37,213,306 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13137,056,330 - 37,081,115 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03137,041,715 - 37,066,909 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03137,534,281 - 37,559,052 (+)NCBIUU_Cfam_GSD_1.0
Rrp1b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497136,867,262 - 36,893,378 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936500575,401 - 601,108 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936500574,445 - 600,555 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RRP1B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13206,629,204 - 206,651,123 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113206,629,176 - 206,653,374 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213216,628,871 - 216,653,088 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RRP1B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1287,434,214 - 87,471,553 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl287,434,304 - 87,471,627 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605415,500,819 - 15,537,728 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rrp1b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474527,365,141 - 27,387,173 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474527,362,820 - 27,387,258 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RRP1B
37 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 copy number loss See cases [RCV000050746] Chr21:42232926..46670405 [GRCh38]
Chr21:43653036..48090317 [GRCh37]
Chr21:42526105..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 copy number loss See cases [RCV000051022] Chr21:41285201..46670405 [GRCh38]
Chr21:42657128..48090317 [GRCh37]
Chr21:41578998..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:43651490-43783031)x3 copy number gain See cases [RCV000052829] Chr21:43651490..43783031 [GRCh38]
Chr21:45071371..45202912 [GRCh37]
Chr21:43895799..44027340 [NCBI36]
Chr21:21q22.3		 uncertain significance
GRCh38/hg38 21q22.3(chr21:43675516-43976023)x3 copy number gain See cases [RCV000052830] Chr21:43675516..43976023 [GRCh38]
Chr21:45095397..45395904 [GRCh37]
Chr21:43919825..44220332 [NCBI36]
Chr21:21q22.3		 uncertain significance
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 copy number loss See cases [RCV000052839] Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
NM_015056.2(RRP1B):c.855C>T (p.Asp285=) single nucleotide variant Malignant melanoma [RCV000063845] Chr21:43683337 [GRCh38]
Chr21:45103218 [GRCh37]
Chr21:43927646 [NCBI36]
Chr21:21q22.3		 not provided
GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1 copy number loss See cases [RCV000133675] Chr21:43071168..46670405 [GRCh38]
Chr21:44491278..48090317 [GRCh37]
Chr21:43364347..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 copy number loss See cases [RCV000137341] Chr21:41733640..46671060 [GRCh38]
Chr21:43153800..48090972 [GRCh37]
Chr21:42026869..46915400 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 copy number loss See cases [RCV000139158] Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3		 uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 copy number loss See cases [RCV000142311] Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1 copy number loss See cases [RCV000142600] Chr21:42913213..46670405 [GRCh38]
Chr21:44333323..48090317 [GRCh37]
Chr21:43206392..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1 copy number loss See cases [RCV000142650] Chr21:39375937..44246148 [GRCh38]
Chr21:40747863..45666031 [GRCh37]
Chr21:39669733..44490459 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1 copy number loss See cases [RCV000143335] Chr21:42129699..46671060 [GRCh38]
Chr21:43549809..48090972 [GRCh37]
Chr21:42422878..46915400 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:43427322-43837467)x1 copy number loss See cases [RCV000143569] Chr21:43427322..43837467 [GRCh38]
Chr21:44847202..45257348 [GRCh37]
Chr21:43671630..44081776 [NCBI36]
Chr21:21q22.3		 likely benign|uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44264486-45945979)x1 copy number loss See cases [RCV000240216] Chr21:44264486..45945979 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:44828064-48097372)x1 copy number loss See cases [RCV000449026] Chr21:44828064..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_015056.3(RRP1B):c.1550G>A (p.Gly517Glu) single nucleotide variant not specified [RCV004288452] Chr21:43687924 [GRCh38]
Chr21:45107805 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:44995057-45454894)x3 copy number gain See cases [RCV000446915] Chr21:44995057..45454894 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 copy number loss See cases [RCV000448694] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1 copy number loss See cases [RCV000512071] Chr21:43498966..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 copy number loss See cases [RCV000510684] Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 copy number loss See cases [RCV000511808] Chr21:41254101..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44715783-46385971)x3 copy number gain See cases [RCV000511056] Chr21:44715783..46385971 [GRCh37]
Chr21:21q22.3		 uncertain significance
Single allele duplication not provided [RCV000768458] Chr21:43010560..48093051 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_015056.3(RRP1B):c.842G>A (p.Arg281Lys) single nucleotide variant not specified [RCV004294742] Chr21:43683324 [GRCh38]
Chr21:45103205 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.1994C>T (p.Thr665Ile) single nucleotide variant not specified [RCV004289147] Chr21:43690415 [GRCh38]
Chr21:45110296 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1 copy number loss not provided [RCV000684163] Chr21:43687353..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 copy number loss not provided [RCV000684165] Chr21:42335622..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
Single allele duplication Autism [RCV000754229] Chr21:43403441..46673937 [GRCh38]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44847202-45265689)x1 copy number loss not provided [RCV001007143] Chr21:44847202..45265689 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NC_000021.8:g.(?_44838120)_(45629566_?)del deletion Progressive myoclonic epilepsy [RCV001031044] Chr21:44838120..45629566 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_44838120)_(45629566_?)dup duplication Developmental and epileptic encephalopathy, 30 [RCV003117708]|Progressive myoclonic epilepsy [RCV001032749] Chr21:44838120..45629566 [GRCh37]
Chr21:21q22.3		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787406] Chr21:44627837..46920235 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.246C>T (p.Val82=) single nucleotide variant not provided [RCV000974154] Chr21:43672340 [GRCh38]
Chr21:45092221 [GRCh37]
Chr21:21q22.3		 benign
NC_000021.8:g.(?_43892908)_(45629566_?)del deletion Developmental and epileptic encephalopathy, 30 [RCV001346941]|Primary ciliary dyskinesia [RCV000802591] Chr21:43892908..45629566 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance|no classifications from unflagged records
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43756585-46240105)x1 copy number loss not provided [RCV000849014] Chr21:43756585..46240105 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_44836602)_(45629566_?)del deletion Developmental and epileptic encephalopathy, 30 [RCV001031043] Chr21:44836602..45629566 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44577746-45120173)x3 copy number gain not provided [RCV000848696] Chr21:44577746..45120173 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:44735958-45448138)x3 copy number gain not provided [RCV000849244] Chr21:44735958..45448138 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:44310057-47503155)x1 copy number loss not provided [RCV000847671] Chr21:44310057..47503155 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_015056.3(RRP1B):c.358-8T>A single nucleotide variant not provided [RCV000952790] Chr21:43674628 [GRCh38]
Chr21:45094509 [GRCh37]
Chr21:21q22.3		 benign
NM_015056.3(RRP1B):c.1892T>C (p.Leu631Pro) single nucleotide variant not provided [RCV000952791] Chr21:43690313 [GRCh38]
Chr21:45110194 [GRCh37]
Chr21:21q22.3		 benign
NC_000021.8:g.(?_43792871)_(46330697_?)dup duplication not provided [RCV001031286] Chr21:43792871..46330697 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.1557A>G (p.Gln519=) single nucleotide variant not provided [RCV001532457] Chr21:43687931 [GRCh38]
Chr21:45107812 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1 copy number loss not provided [RCV001007138] Chr21:43472147..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1 copy number loss not provided [RCV001007132] Chr21:39410438..45171756 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3 copy number gain See cases [RCV001007433] Chr21:42044877..48100155 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 copy number gain Complete trisomy 21 syndrome [RCV002284306] Chr21:14420615..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NC_000021.8:g.(?_44838130)_(45196150_?)dup duplication Developmental and epileptic encephalopathy, 30 [RCV001365199]|Progressive myoclonic epilepsy [RCV001364734] Chr21:44838130..45196150 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.2123C>T (p.Thr708Met) single nucleotide variant not provided [RCV001532458] Chr21:43693229 [GRCh38]
Chr21:45113110 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 copy number gain See cases [RCV001780078] Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372) copy number loss not specified [RCV002052739] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
NC_000021.8:g.(?_44838120)_(47865240_?)del deletion not provided [RCV001987971] Chr21:44838120..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372) copy number gain not specified [RCV002052723] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45071606-45703897) copy number gain not specified [RCV002052742] Chr21:45071606..45703897 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372) copy number gain not specified [RCV002052724] Chr21:15041209..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NC_000021.8:g.(?_43160998)_(47865240_?)dup duplication Cataract 9 multiple types [RCV001913783]|Developmental and epileptic encephalopathy, 30 [RCV003120744]|Primary ciliary dyskinesia [RCV001913782] Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372) copy number gain not specified [RCV002052725] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV001829203] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44850469-45257348) copy number loss not specified [RCV002052741] Chr21:44850469..45257348 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_43160998)_(47865240_?)del deletion HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV001956307] Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3		 pathogenic
NC_000021.8:g.(?_44473990)_(47865240_?)dup duplication not provided [RCV002011965] Chr21:44473990..47865240 [GRCh37]
Chr21:21q22.3		 uncertain significance
NC_000021.8:g.(?_43160998)_(47754702_?)del deletion Developmental and epileptic encephalopathy, 30 [RCV003119312]|Progressive myoclonic epilepsy [RCV003119311] Chr21:43160998..47754702 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:42046399-45109188)x1 copy number loss not provided [RCV002472503] Chr21:42046399..45109188 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
NM_015056.3(RRP1B):c.997G>T (p.Asp333Tyr) single nucleotide variant not specified [RCV004170104] Chr21:43685777 [GRCh38]
Chr21:45105658 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.1426C>T (p.Arg476Trp) single nucleotide variant not specified [RCV004159173] Chr21:43687800 [GRCh38]
Chr21:45107681 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.2011G>T (p.Ala671Ser) single nucleotide variant not specified [RCV004182633] Chr21:43690432 [GRCh38]
Chr21:45110313 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.1480C>G (p.Pro494Ala) single nucleotide variant not specified [RCV004111160] Chr21:43687854 [GRCh38]
Chr21:45107735 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.1420C>T (p.Arg474Trp) single nucleotide variant not specified [RCV004242542] Chr21:43687794 [GRCh38]
Chr21:45107675 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.997G>A (p.Asp333Asn) single nucleotide variant not specified [RCV004170767] Chr21:43685777 [GRCh38]
Chr21:45105658 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.400C>G (p.Arg134Gly) single nucleotide variant not specified [RCV004125120] Chr21:43674678 [GRCh38]
Chr21:45094559 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.2146G>A (p.Asp716Asn) single nucleotide variant not specified [RCV004072807] Chr21:43693252 [GRCh38]
Chr21:45113133 [GRCh37]
Chr21:21q22.3		 likely benign
NM_015056.3(RRP1B):c.1843G>A (p.Glu615Lys) single nucleotide variant not specified [RCV004197384] Chr21:43688217 [GRCh38]
Chr21:45108098 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.1918A>G (p.Ser640Gly) single nucleotide variant not specified [RCV004130206] Chr21:43690339 [GRCh38]
Chr21:45110220 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.2193C>G (p.Ser731Arg) single nucleotide variant not specified [RCV004133372] Chr21:43693299 [GRCh38]
Chr21:45113180 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.748C>A (p.Pro250Thr) single nucleotide variant not specified [RCV004178357] Chr21:43676866 [GRCh38]
Chr21:45096747 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.641G>A (p.Arg214Gln) single nucleotide variant not specified [RCV004160226] Chr21:43676759 [GRCh38]
Chr21:45096640 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.772A>G (p.Arg258Gly) single nucleotide variant not specified [RCV004202337] Chr21:43676890 [GRCh38]
Chr21:45096771 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.1549G>A (p.Gly517Arg) single nucleotide variant not specified [RCV004171777] Chr21:43687923 [GRCh38]
Chr21:45107804 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.1951C>G (p.Pro651Ala) single nucleotide variant not specified [RCV004217560] Chr21:43690372 [GRCh38]
Chr21:45110253 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.2029A>G (p.Thr677Ala) single nucleotide variant not specified [RCV004080109] Chr21:43691448 [GRCh38]
Chr21:45111329 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.1216A>C (p.Lys406Gln) single nucleotide variant not specified [RCV004194572] Chr21:43687590 [GRCh38]
Chr21:45107471 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.985A>C (p.Lys329Gln) single nucleotide variant not specified [RCV004074586] Chr21:43684646 [GRCh38]
Chr21:45104527 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.142C>G (p.Gln48Glu) single nucleotide variant not specified [RCV004078224] Chr21:43669895 [GRCh38]
Chr21:45089776 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.1065C>A (p.Asp355Glu) single nucleotide variant not specified [RCV004090131] Chr21:43686859 [GRCh38]
Chr21:45106740 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.1693C>A (p.Pro565Thr) single nucleotide variant not specified [RCV004232946] Chr21:43688067 [GRCh38]
Chr21:45107948 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.86A>G (p.Lys29Arg) single nucleotide variant not specified [RCV004249455] Chr21:43659750 [GRCh38]
Chr21:45079631 [GRCh37]
Chr21:21q22.3		 likely benign
NM_015056.3(RRP1B):c.692C>T (p.Thr231Met) single nucleotide variant not specified [RCV004349280] Chr21:43676810 [GRCh38]
Chr21:45096691 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1 copy number loss not provided [RCV003483381] Chr21:40681179..48097372 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45087062-45164936)x1 copy number loss not provided [RCV003483387] Chr21:45087062..45164936 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:44925905-45717716)x3 copy number gain not provided [RCV003485228] Chr21:44925905..45717716 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3 copy number gain not provided [RCV003485218] Chr21:15006458..45674637 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3 copy number gain not provided [RCV003485222] Chr21:33015681..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3 copy number gain not provided [RCV003485225] Chr21:43687354..48097372 [GRCh37]
Chr21:21q22.3		 likely pathogenic
GRCh37/hg19 21q22.3(chr21:44968648-45268475)x3 copy number gain not provided [RCV003485229] Chr21:44968648..45268475 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.266C>T (p.Ala89Val) single nucleotide variant not provided [RCV003431525] Chr21:43672360 [GRCh38]
Chr21:45092241 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1 copy number loss not specified [RCV003986157] Chr21:35872675..48097372 [GRCh37]
Chr21:21q22.12-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3 copy number gain not specified [RCV003986149] Chr21:30685776..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3 copy number gain not specified [RCV003986152] Chr21:26929299..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1 copy number loss not specified [RCV003986155] Chr21:43369956..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1 copy number loss not specified [RCV003986156] Chr21:45102309..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1 copy number loss not specified [RCV003986159] Chr21:44577746..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1 copy number loss not specified [RCV003986150] Chr21:43603041..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_015056.3(RRP1B):c.1472T>C (p.Val491Ala) single nucleotide variant not specified [RCV004452390] Chr21:43687846 [GRCh38]
Chr21:45107727 [GRCh37]
Chr21:21q22.3		 likely benign
NM_015056.3(RRP1B):c.1797G>C (p.Met599Ile) single nucleotide variant not specified [RCV004452391] Chr21:43688171 [GRCh38]
Chr21:45108052 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.343G>A (p.Asp115Asn) single nucleotide variant not specified [RCV004452392] Chr21:43673941 [GRCh38]
Chr21:45093822 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.968G>A (p.Arg323His) single nucleotide variant not specified [RCV004452394] Chr21:43684629 [GRCh38]
Chr21:45104510 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_015056.3(RRP1B):c.1306C>G (p.Leu436Val) single nucleotide variant not specified [RCV004452388] Chr21:43687680 [GRCh38]
Chr21:45107561 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NC_000021.8:g.(?_43892908)_(45629566_?)dup duplication Primary ciliary dyskinesia [RCV000552378] Chr21:43892908..45629566 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:43268694-48097372)x1 copy number loss See cases [RCV000446372] Chr21:43268694..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:43598607-48097372)x1 copy number loss See cases [RCV000447618] Chr21:43598607..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:44891717-46043454)x1 copy number loss See cases [RCV000448917] Chr21:44891717..46043454 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745) copy number loss not provided [RCV000767626] Chr21:41537095..46914745 [GRCh37]
Chr21:21q22.2-22.3		 pathogenic
GRCh37/hg19 21q22.3(chr21:42679089-48097372) copy number loss Delayed speech and language development [RCV002280704] Chr21:42679089..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_015056.3(RRP1B):c.1573C>T (p.Arg525Trp) single nucleotide variant not specified [RCV004222861] Chr21:43687947 [GRCh38]
Chr21:45107828 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3 copy number gain not specified [RCV003986160] Chr21:15023401..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3 copy number gain not specified [RCV003986158] Chr21:34092685..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
NM_015056.3(RRP1B):c.1241C>G (p.Pro414Arg) single nucleotide variant not specified [RCV004452387] Chr21:43687615 [GRCh38]
Chr21:45107496 [GRCh37]
Chr21:21q22.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1193
Count of miRNA genes:798
Interacting mature miRNAs:885
Transcripts:ENST00000340648, ENST00000470886
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
D21S1995  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,115,945 - 45,116,060UniSTSGRCh37
Build 362143,940,373 - 43,940,488RGDNCBI36
Celera2130,221,780 - 30,221,895RGD
Cytogenetic Map21q22.3UniSTS
HuRef2130,483,745 - 30,483,860UniSTS
Stanford-G3 RH Map211597.0UniSTS
D21S1875  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,093,745 - 45,093,996UniSTSGRCh37
Build 362143,918,173 - 43,918,424RGDNCBI36
Celera2130,199,575 - 30,199,826RGD
Cytogenetic Map21q22.3UniSTS
HuRef2130,461,593 - 30,461,844UniSTS
D21S1871  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,093,625 - 45,093,813UniSTSGRCh37
Build 362143,918,053 - 43,918,241RGDNCBI36
Celera2130,199,455 - 30,199,643RGD
Cytogenetic Map21q22.3UniSTS
HuRef2130,461,473 - 30,461,661UniSTS
TNG Radiation Hybrid Map2118090.0UniSTS
Stanford-G3 RH Map211650.0UniSTS
NCBI RH Map21407.7UniSTS
SHGC-52104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,115,787 - 45,115,880UniSTSGRCh37
Build 362143,940,215 - 43,940,308RGDNCBI36
Celera2130,221,622 - 30,221,715RGD
Cytogenetic Map21q22.3UniSTS
HuRef2130,483,587 - 30,483,680UniSTS
TNG Radiation Hybrid Map2118017.0UniSTS
RH25394  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,115,777 - 45,115,934UniSTSGRCh37
Build 362143,940,205 - 43,940,362RGDNCBI36
Celera2130,221,612 - 30,221,769RGD
Cytogenetic Map21q22.3UniSTS
HuRef2130,483,577 - 30,483,734UniSTS
SHGC-81310  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,113,067 - 45,113,343UniSTSGRCh37
Build 362143,937,495 - 43,937,771RGDNCBI36
Celera2130,218,899 - 30,219,175RGD
Cytogenetic Map21q22.3UniSTS
HuRef2130,480,860 - 30,481,136UniSTS
TNG Radiation Hybrid Map2118017.0UniSTS
G34629  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,089,352 - 45,089,494UniSTSGRCh37
Build 362143,913,780 - 43,913,922RGDNCBI36
Celera2130,195,182 - 30,195,324RGD
Cytogenetic Map21q22.3UniSTS
HuRef2130,457,200 - 30,457,342UniSTS
G34564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,112,684 - 45,112,776UniSTSGRCh37
Build 362143,937,112 - 43,937,204RGDNCBI36
Celera2130,218,516 - 30,218,608RGD
Cytogenetic Map21q22.3UniSTS
HuRef2130,480,477 - 30,480,569UniSTS
SHGC-51780  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,115,937 - 45,116,102UniSTSGRCh37
Build 362143,940,365 - 43,940,530RGDNCBI36
Celera2130,221,772 - 30,221,937RGD
Cytogenetic Map21q22.3UniSTS
HuRef2130,483,737 - 30,483,902UniSTS
TNG Radiation Hybrid Map2117997.0UniSTS
SHGC-7009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,112,651 - 45,112,775UniSTSGRCh37
Build 362143,937,079 - 43,937,203RGDNCBI36
Celera2130,218,483 - 30,218,607RGD
Cytogenetic Map21q22.3UniSTS
HuRef2130,480,444 - 30,480,568UniSTS
TNG Radiation Hybrid Map2118032.0UniSTS
SHGC-51981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372145,096,074 - 45,096,307UniSTSGRCh37
Build 362143,920,502 - 43,920,735RGDNCBI36
Celera2130,201,905 - 30,202,138RGD
Cytogenetic Map21q22.3UniSTS
HuRef2130,463,924 - 30,464,157UniSTS
TNG Radiation Hybrid Map2118060.0UniSTS


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 1877 1265 1254 295 1184 164 3825 1200 1956 211 1428 1487 147 1 1110 2302 4 2
Low 562 1715 472 329 756 301 532 997 1778 208 32 126 28 94 486 2
Below cutoff 11 11

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000340648   ⟹   ENSP00000339145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2143,659,560 - 43,696,079 (+)Ensembl
RefSeq Acc Id: ENST00000470886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2143,686,132 - 43,696,077 (+)Ensembl
RefSeq Acc Id: NM_015056   ⟹   NP_055871
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382143,659,560 - 43,696,079 (+)NCBI
GRCh372145,079,432 - 45,115,960 (+)RGD
Build 362143,903,860 - 43,940,388 (+)NCBI Archive
Celera2130,185,262 - 30,221,795 (+)RGD
HuRef2130,447,279 - 30,483,760 (+)RGD
CHM1_12144,640,173 - 44,676,715 (+)NCBI
T2T-CHM13v2.02142,015,103 - 42,051,622 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_055871   ⟸   NM_015056
- UniProtKB: Q8TBZ4 (UniProtKB/Swiss-Prot),   Q14684 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000339145   ⟸   ENST00000340648

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14684-F1-model_v2 AlphaFold Q14684 1-758 view protein structure

Promoters
RGD ID:13602978
Promoter ID:EPDNEW_H27673
Type:initiation region
Name:RRP1B_1
Description:ribosomal RNA processing 1B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382143,659,564 - 43,659,624EPDNEW
RGD ID:6799563
Promoter ID:HG_KWN:41099
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_007031,   OTTHUMT00000195621,   OTTHUMT00000195651
Position:
Human AssemblyChrPosition (strand)Source
Build 362143,903,036 - 43,904,492 (+)MPROMDB
RGD ID:6799559
Promoter ID:HG_KWN:41100
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:UC002ZDL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362143,930,511 - 43,931,011 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23818 AgrOrtholog
COSMIC RRP1B COSMIC
Ensembl Genes ENSG00000160208 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000340648 ENTREZGENE
  ENST00000340648.6 UniProtKB/Swiss-Prot
GTEx ENSG00000160208 GTEx
HGNC ID HGNC:23818 ENTREZGENE
Human Proteome Map RRP1B Human Proteome Map
InterPro Nop52 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23076 UniProtKB/Swiss-Prot
NCBI Gene 23076 ENTREZGENE
OMIM 610654 OMIM
PANTHER PTHR13026 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RIBOSOMAL RNA PROCESSING PROTEIN 1 HOMOLOG B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Nop52 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162402138 PharmGKB
UniProt Q14684 ENTREZGENE
  Q6PJM8_HUMAN UniProtKB/TrEMBL
  Q8TBZ4 ENTREZGENE
  RRP1B_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q8TBZ4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-07-09 RRP1B  ribosomal RNA processing 1B    ribosomal RNA processing 1 homolog B (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED