RRAGB (Ras related GTP binding B) - Rat Genome Database

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Gene: RRAGB (Ras related GTP binding B) Homo sapiens
Analyze
Symbol: RRAGB
Name: Ras related GTP binding B
RGD ID: 1343212
HGNC Page HGNC
Description: Exhibits GTP binding activity; GTPase activity; and GTPase binding activity. Involved in several processes, including cellular response to amino acid stimulus; cellular response to leucine starvation; and positive regulation of TORC1 signaling. Localizes to lysosome.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: bA465E19.1; GTP-binding protein ragB; rag B; RAGB; Ras-related GTP binding B; ras-related GTP-binding protein B
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX55,717,739 - 55,758,774 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX55,717,749 - 55,758,774 (+)EnsemblGRCh38hg38GRCh38
GRCh38X55,717,747 - 55,760,209 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X55,744,182 - 55,785,207 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X55,760,904 - 55,801,932 (+)NCBINCBI36hg18NCBI36
Build 34X55,627,199 - 55,668,227NCBI
CeleraX59,582,631 - 59,623,721 (+)NCBI
Cytogenetic MapXp11.21NCBI
HuRefX52,797,429 - 52,838,892 (+)NCBIHuRef
CHM1_1X55,734,228 - 55,775,318 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:9394008   PMID:11073942   PMID:12477932   PMID:12766061   PMID:15489334   PMID:15772651   PMID:16344560   PMID:17897319   PMID:18029348   PMID:18187620   PMID:18497260   PMID:20381137  
PMID:21832049   PMID:21873635   PMID:21981924   PMID:22424946   PMID:22575674   PMID:22749528   PMID:22863883   PMID:22980980   PMID:23394946   PMID:23723238   PMID:24337580   PMID:24529380  
PMID:24665060   PMID:25259925   PMID:25561175   PMID:25567906   PMID:26186194   PMID:26582740   PMID:27693506   PMID:28199315   PMID:28514442   PMID:28716898   PMID:28808055   PMID:29940807  
PMID:31617661  


Genomics

Comparative Map Data
RRAGB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX55,717,739 - 55,758,774 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX55,717,749 - 55,758,774 (+)EnsemblGRCh38hg38GRCh38
GRCh38X55,717,747 - 55,760,209 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X55,744,182 - 55,785,207 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X55,760,904 - 55,801,932 (+)NCBINCBI36hg18NCBI36
Build 34X55,627,199 - 55,668,227NCBI
CeleraX59,582,631 - 59,623,721 (+)NCBI
Cytogenetic MapXp11.21NCBI
HuRefX52,797,429 - 52,838,892 (+)NCBIHuRef
CHM1_1X55,734,228 - 55,775,318 (+)NCBICHM1_1
Rragb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X151,920,640 - 151,973,188 (+)NCBIGRCm39mm39
GRCm39 EnsemblX151,922,977 - 151,954,939 (+)Ensembl
GRCm38X153,137,644 - 153,190,192 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX153,139,981 - 153,171,943 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X149,574,501 - 149,606,486 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X148,480,716 - 148,512,659 (+)NCBImm8
CeleraX136,082,622 - 136,114,670 (-)NCBICelera
Cytogenetic MapXF3NCBI
RragB
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X18,184,619 - 18,234,639 (-)NCBI
Rnor_6.0 EnsemblX19,101,522 - 19,134,869 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 EnsemblX19,336,372 - 19,369,746 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X19,085,913 - 19,135,049 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X20,103,258 - 20,136,624 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X38,352,967 - 38,384,643 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X38,406,474 - 38,438,064 (-)NCBI
CeleraX18,476,842 - 18,508,518 (-)NCBICelera
Cytogenetic MapXq12NCBI
Rragb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554752,662,868 - 2,696,364 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554752,662,969 - 2,692,253 (+)NCBIChiLan1.0ChiLan1.0
RRAGB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X56,155,662 - 56,194,335 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX56,155,662 - 56,194,335 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X48,003,566 - 48,042,285 (+)NCBIMhudiblu_PPA_v0panPan3
RRAGB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X47,323,427 - 47,361,551 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX47,323,269 - 47,361,138 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX38,516,639 - 38,554,727 (+)NCBI
ROS_Cfam_1.0X47,577,861 - 47,616,565 (+)NCBI
UMICH_Zoey_3.1X46,816,268 - 46,854,351 (+)NCBI
UNSW_CanFamBas_1.0X47,554,657 - 47,592,735 (+)NCBI
UU_Cfam_GSD_1.0X47,476,313 - 47,514,405 (+)NCBI
Rragb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X40,046,042 - 40,078,894 (+)NCBI
SpeTri2.0NW_004936819946,874 - 988,531 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RRAGB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX48,286,592 - 48,330,195 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X48,286,584 - 48,330,196 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X54,154,898 - 54,165,886 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RRAGB
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X51,806,561 - 51,848,263 (+)NCBI
ChlSab1.1 EnsemblX51,806,596 - 51,848,502 (+)Ensembl
Rragb
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624910726,467 - 760,293 (+)NCBI

Position Markers
RH91912  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X55,784,953 - 55,785,089UniSTSGRCh37
Build 36X55,801,678 - 55,801,814RGDNCBI36
CeleraX59,623,467 - 59,623,603RGD
Cytogenetic MapXp11.21UniSTS
HuRefX52,838,638 - 52,838,774UniSTS
GeneMap99-GB4 RH MapX180.62UniSTS
DXS7036E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X55,744,240 - 55,744,483UniSTSGRCh37
Build 36X55,760,965 - 55,761,208RGDNCBI36
CeleraX59,582,761 - 59,583,004RGD
Cytogenetic MapXp11.21UniSTS
HuRefX52,797,559 - 52,797,802UniSTS
GeneMap99-GB4 RH MapX171.81UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:617
Count of miRNA genes:425
Interacting mature miRNAs:456
Transcripts:ENST00000262850, ENST00000374941, ENST00000414239, ENST00000474757, ENST00000475061, ENST00000498762
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1762 1412 1293 170 903 78 3347 953 2841 301 1279 1488 101 1 1053 2007 1
Low 675 1570 433 454 1039 387 1010 1242 893 118 181 124 74 151 781 5 2
Below cutoff 9 7 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001354011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_244464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK289407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL159987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL831926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX641797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD676755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB246060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB252202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X90530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262850   ⟹   ENSP00000262850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX55,717,885 - 55,758,348 (+)Ensembl
RefSeq Acc Id: ENST00000374941   ⟹   ENSP00000364077
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX55,717,739 - 55,758,774 (+)Ensembl
RefSeq Acc Id: ENST00000414239   ⟹   ENSP00000410630
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX55,717,749 - 55,753,475 (+)Ensembl
RefSeq Acc Id: ENST00000474757
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX55,731,401 - 55,751,623 (+)Ensembl
RefSeq Acc Id: ENST00000475061
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX55,755,810 - 55,758,382 (+)Ensembl
RefSeq Acc Id: ENST00000498762
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX55,722,191 - 55,731,708 (+)Ensembl
RefSeq Acc Id: NM_001354011   ⟹   NP_001340940
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,717,749 - 55,758,774 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354013   ⟹   NP_001340942
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,717,749 - 55,758,774 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006064   ⟹   NP_006055
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,717,749 - 55,758,774 (+)NCBI
GRCh37X55,744,110 - 55,785,766 (+)NCBI
Build 36X55,760,904 - 55,801,932 (+)NCBI Archive
CeleraX59,582,631 - 59,623,721 (+)RGD
HuRefX52,797,429 - 52,838,892 (+)ENTREZGENE
CHM1_1X55,734,228 - 55,775,318 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016656   ⟹   NP_057740
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,717,749 - 55,758,774 (+)NCBI
GRCh37X55,744,110 - 55,785,766 (+)NCBI
Build 36X55,760,904 - 55,801,932 (+)NCBI Archive
CeleraX59,582,631 - 59,623,721 (+)RGD
HuRefX52,797,429 - 52,838,892 (+)ENTREZGENE
CHM1_1X55,734,228 - 55,775,318 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148683
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,717,749 - 55,758,774 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148684
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,717,749 - 55,758,774 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148685
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,717,749 - 55,758,774 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148686
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,717,749 - 55,758,774 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148687
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,717,749 - 55,758,774 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148688
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,717,749 - 55,758,774 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148689
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,717,749 - 55,758,774 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148690
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,717,749 - 55,758,774 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148691
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,717,749 - 55,758,774 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148692
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,717,749 - 55,758,774 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029218   ⟹   XP_016884707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,717,747 - 55,755,061 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755636
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,717,747 - 55,760,209 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755641
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,717,747 - 55,760,209 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755643
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,717,747 - 55,758,292 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755646
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,717,747 - 55,758,772 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002958762
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,717,747 - 55,760,209 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002958763
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,717,747 - 55,758,292 (+)NCBI
Sequence:
RefSeq Acc Id: XR_244464
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,717,747 - 55,757,331 (+)NCBI
GRCh37X55,744,110 - 55,785,766 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_057740   ⟸   NM_016656
- Peptide Label: long isoform
- UniProtKB: Q5VZM2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_006055   ⟸   NM_006064
- Peptide Label: short isoform
- UniProtKB: Q5VZM2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884707   ⟸   XM_017029218
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001340940   ⟸   NM_001354011
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001340942   ⟸   NM_001354013
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: ENSP00000364077   ⟸   ENST00000374941
RefSeq Acc Id: ENSP00000410630   ⟸   ENST00000414239
RefSeq Acc Id: ENSP00000262850   ⟸   ENST00000262850

Promoters
RGD ID:13605450
Promoter ID:EPDNEW_H28909
Type:initiation region
Name:RRAGB_1
Description:Ras related GTP binding B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28908  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X55,717,749 - 55,717,809EPDNEW
RGD ID:6809243
Promoter ID:HG_KWN:67004
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_006064,   NM_016656,   OTTHUMT00000056882
Position:
Human AssemblyChrPosition (strand)Source
Build 36X55,760,911 - 55,761,492 (+)MPROMDB
RGD ID:6809242
Promoter ID:HG_KWN:67007
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000056883
Position:
Human AssemblyChrPosition (strand)Source
Build 36X55,797,861 - 55,798,361 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.22-11.21(chrX:51664377-58055036)x3 copy number gain See cases [RCV000052392] ChrX:51664377..58055036 [GRCh38]
ChrX:51407309..58081470 [GRCh37]
ChrX:51424049..58098195 [NCBI36]
ChrX:Xp11.22-11.21
pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2 copy number gain See cases [RCV000052393] ChrX:52363196..58455952 [GRCh38]
ChrX:52175778..58482385 [GRCh37]
ChrX:52123054..58499110 [NCBI36]
ChrX:Xp11.22-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 Xp11.22-11.21(chrX:53764152-58014767)x2 copy number gain See cases [RCV000135877] ChrX:53764152..58014767 [GRCh38]
ChrX:53790650..58041201 [GRCh37]
ChrX:53807375..58057926 [NCBI36]
ChrX:Xp11.22-11.21
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp11.22-q11.1(chrX:53750365-63089185)x2 copy number gain See cases [RCV000137412] ChrX:53750365..63089185 [GRCh38]
ChrX:53776863..62203737 [GRCh37]
ChrX:53793588..62225380 [NCBI36]
ChrX:Xp11.22-q11.1
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:51654792-58469500)x1 copy number loss See cases [RCV000142036] ChrX:51654792..58469500 [GRCh38]
ChrX:51397726..58495933 [GRCh37]
ChrX:51414466..58512658 [NCBI36]
ChrX:Xp11.22-11.1
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3 copy number gain See cases [RCV000142756] ChrX:52809123..65305544 [GRCh38]
ChrX:52838147..64525424 [GRCh37]
ChrX:52854872..64442149 [NCBI36]
ChrX:Xp11.22-q11.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2 copy number gain See cases [RCV000239889] ChrX:53085607..67176333 [GRCh37]
ChrX:Xp11.22-q12
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22-11.21(chrX:53220822-58066465)x3 copy number gain See cases [RCV000240407] ChrX:53220822..58066465 [GRCh37]
ChrX:Xp11.22-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp11.21(chrX:55745691-55932670)x3 copy number gain See cases [RCV000448605] ChrX:55745691..55932670 [GRCh37]
ChrX:Xp11.21
likely benign
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_006064.5(RRAGB):c.736-4A>G single nucleotide variant not provided [RCV000897784] ChrX:55755837 [GRCh38]
ChrX:55782270 [GRCh37]
ChrX:Xp11.21
benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19901 AgrOrtholog
COSMIC RRAGB COSMIC
Ensembl Genes ENSG00000083750 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000262850 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000364077 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000410630 UniProtKB/TrEMBL
Ensembl Transcript ENST00000262850 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000374941 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000414239 UniProtKB/TrEMBL
GTEx ENSG00000083750 GTEx
HGNC ID HGNC:19901 ENTREZGENE
Human Proteome Map RRAGB Human Proteome Map
InterPro Gtr1_RagA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RagA/B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10325 UniProtKB/Swiss-Prot
NCBI Gene 10325 ENTREZGENE
OMIM 300725 OMIM
PANTHER PTHR11259 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Gtr1_RagA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134902397 PharmGKB
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt Q5VZM0_HUMAN UniProtKB/TrEMBL
  Q5VZM2 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K042 UniProtKB/Swiss-Prot
  Q15348 UniProtKB/Swiss-Prot
  Q8N3T0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-29 RRAGB  Ras related GTP binding B    Ras-related GTP binding B  Symbol and/or name change 5135510 APPROVED
2011-09-01 RRAGB  Ras-related GTP binding B  RRAGB  Ras-related GTP binding B  Symbol and/or name change 5135510 APPROVED