RBMX (RNA binding motif protein X-linked) - Rat Genome Database

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Gene: RBMX (RNA binding motif protein X-linked) Homo sapiens
Analyze
Symbol: RBMX
Name: RNA binding motif protein X-linked
RGD ID: 1349812
HGNC Page HGNC
Description: Exhibits several functions, including chromatin binding activity; identical protein binding activity; and nucleic acid binding activity. Involved in several processes, including cellular response to interleukin-1; membrane protein ectodomain proteolysis; and regulation of RNA metabolic process. Localizes to euchromatin; extracellular exosome; and spliceosomal complex. Implicated in syndromic X-linked intellectual disability Shashi type.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: glycoprotein p43; heterogeneous nuclear ribonucleoprotein G; hnRNP G; hnRNP-G; HNRNPG; HNRPG; mental retardation, X-linked, syndromic 11; MRXS11; RBMXP1; RBMXRT; RNA binding motif protein, X chromosome; RNA binding motif protein, X-linked; RNA-binding motif protein, X chromosome; RNMX
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: RBMXP1   RBMXP2   RBMXP3   RBMXP4   RBMXP5  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX136,848,004 - 136,880,764 (-)EnsemblGRCh38hg38GRCh38
GRCh38X136,869,192 - 136,880,725 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X135,951,351 - 135,962,884 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X135,783,285 - 135,790,605 (-)NCBINCBI36hg18NCBI36
Build 34X135,681,138 - 135,688,459NCBI
CeleraX136,315,008 - 136,326,547 (-)NCBI
Cytogenetic MapXq26.3NCBI
HuRefX125,221,196 - 125,232,578 (-)NCBIHuRef
CHM1_1X135,863,032 - 135,874,620 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1551662   PMID:7692398   PMID:8889549   PMID:10332027   PMID:10391206   PMID:10391207   PMID:MRXS11   PMID:10749975   PMID:11101529   PMID:11118435   PMID:11420617   PMID:11991638  
PMID:12165565   PMID:12226669   PMID:12388589   PMID:12477932   PMID:12761049   PMID:14559993   PMID:14702039   PMID:15144186   PMID:15231747   PMID:15302935   PMID:15489334   PMID:15772651  
PMID:15782174   PMID:16159877   PMID:16189514   PMID:16210410   PMID:16230076   PMID:16344560   PMID:16491274   PMID:16552754   PMID:16677675   PMID:16964243   PMID:17081983   PMID:17332742  
PMID:17353931   PMID:17387044   PMID:17643375   PMID:18445477   PMID:18541147   PMID:19282290   PMID:19615732   PMID:19738201   PMID:19961560   PMID:20020773   PMID:20211142   PMID:20360068  
PMID:20467437   PMID:20562859   PMID:21081503   PMID:21081666   PMID:21145461   PMID:21182205   PMID:21327109   PMID:21516116   PMID:21642987   PMID:21840245   PMID:21873635   PMID:21907836  
PMID:21988832   PMID:22113938   PMID:22268729   PMID:22344029   PMID:22365833   PMID:22446626   PMID:22558309   PMID:22586326   PMID:22623428   PMID:22658674   PMID:22681889   PMID:22751105  
PMID:22832223   PMID:22939629   PMID:23084401   PMID:23125841   PMID:23151878   PMID:23398456   PMID:23443559   PMID:23580065   PMID:23602568   PMID:23825951   PMID:24457600   PMID:24550385  
PMID:24711643   PMID:24965446   PMID:25256757   PMID:25315684   PMID:25336651   PMID:25416956   PMID:25437307   PMID:25515538   PMID:25538220   PMID:25609649   PMID:25662211   PMID:25678563  
PMID:25884434   PMID:25910212   PMID:25921289   PMID:25963833   PMID:26167880   PMID:26186194   PMID:26318153   PMID:26333388   PMID:26354767   PMID:26496610   PMID:26549023   PMID:26638075  
PMID:26641092   PMID:26693507   PMID:26979993   PMID:26990986   PMID:27025967   PMID:27107012   PMID:27107014   PMID:27342126   PMID:27460707   PMID:27542412   PMID:27545878   PMID:27591049  
PMID:27609421   PMID:27684187   PMID:27976729   PMID:28192407   PMID:28225217   PMID:28242625   PMID:28302793   PMID:28334903   PMID:28416769   PMID:28514442   PMID:28515276   PMID:28675297  
PMID:28977666   PMID:29117863   PMID:29228324   PMID:29229926   PMID:29298432   PMID:29331416   PMID:29383807   PMID:29395067   PMID:29467281   PMID:29467282   PMID:29478914   PMID:29507755  
PMID:29511296   PMID:29721183   PMID:29802200   PMID:29844126   PMID:29845934   PMID:29884807   PMID:29892012   PMID:30021884   PMID:30196744   PMID:30209976   PMID:30320910   PMID:30349055  
PMID:30442662   PMID:30463901   PMID:30502052   PMID:30804502   PMID:30948266   PMID:30995489   PMID:31006538   PMID:31048545   PMID:31059266   PMID:31091453   PMID:31180492   PMID:31239290  
PMID:31300519   PMID:31343408   PMID:31445886   PMID:31586073   PMID:31980649   PMID:32051553   PMID:32129710   PMID:32296183   PMID:32780723   PMID:32814053   PMID:32877691  


Genomics

Comparative Map Data
RBMX
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX136,848,004 - 136,880,764 (-)EnsemblGRCh38hg38GRCh38
GRCh38X136,869,192 - 136,880,725 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X135,951,351 - 135,962,884 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X135,783,285 - 135,790,605 (-)NCBINCBI36hg18NCBI36
Build 34X135,681,138 - 135,688,459NCBI
CeleraX136,315,008 - 136,326,547 (-)NCBI
Cytogenetic MapXq26.3NCBI
HuRefX125,221,196 - 125,232,578 (-)NCBIHuRef
CHM1_1X135,863,032 - 135,874,620 (-)NCBICHM1_1
Rbmx
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X56,428,708 - 56,438,405 (-)NCBIGRCm39mm39
GRCm39 EnsemblX56,428,890 - 56,438,396 (-)Ensembl
GRCm38X57,383,348 - 57,393,046 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX57,383,530 - 57,393,036 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X54,636,525 - 54,646,213 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X53,733,142 - 53,739,810 (-)NCBImm8
CeleraX43,859,557 - 43,869,048 (-)NCBICelera
Cytogenetic MapXA6NCBI
Rbmx
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X135,305,237 - 135,314,806 (-)NCBI
Rnor_6.0 EnsemblX159,884,885 - 159,891,326 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X159,881,835 - 159,891,405 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X154,508,654 - 154,518,218 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X142,112,807 - 142,119,267 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX143,341,911 - 143,347,131 (-)NCBICelera
Cytogenetic MapXq37NCBI
Rbmx
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554898,280,842 - 8,286,252 (+)NCBIChiLan1.0ChiLan1.0
RBMX
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X136,264,406 - 136,275,360 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX136,264,406 - 136,275,360 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X125,997,989 - 126,009,525 (-)NCBIMhudiblu_PPA_v0panPan3
RBMX
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X107,173,599 - 107,182,404 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX107,175,634 - 107,182,347 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX92,994,761 - 93,003,581 (-)NCBI
ROS_Cfam_1.0X109,152,874 - 109,161,692 (-)NCBI
UMICH_Zoey_3.1X106,293,550 - 106,302,363 (-)NCBI
UNSW_CanFamBas_1.0X108,485,256 - 108,494,069 (-)NCBI
UU_Cfam_GSD_1.0X108,127,392 - 108,136,215 (-)NCBI
Rbmx
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X105,172,114 - 105,184,736 (-)NCBI
SpeTri2.0NW_00493651310,429,862 - 10,442,509 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RBMX
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX111,962,632 - 112,011,262 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X111,965,859 - 111,974,544 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X127,896,442 - 127,905,102 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RBMX
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X111,880,859 - 111,892,660 (-)NCBI
Rbmx
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462480810,176,695 - 10,185,847 (+)NCBI

Position Markers
G42696  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,956,742 - 135,956,829UniSTSGRCh37
Build 36X135,784,408 - 135,784,495RGDNCBI36
CeleraX136,320,398 - 136,320,485RGD
Cytogenetic MapXq26.3UniSTS
HuRefX125,226,915 - 125,227,002UniSTS
RH45175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,954,978 - 135,955,174UniSTSGRCh37
Build 36X135,782,644 - 135,782,840RGDNCBI36
CeleraX136,318,633 - 136,318,829RGD
Cytogenetic MapXq26.3UniSTS
GeneMap99-GB4 RH MapX326.51UniSTS
WI-11365  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,961,623 - 135,961,749UniSTSGRCh37
Build 36X135,789,289 - 135,789,415RGDNCBI36
CeleraX136,325,231 - 136,325,357RGD
Cytogenetic MapXq26.3UniSTS
HuRefX125,231,262 - 125,231,388UniSTS
GeneMap99-GB4 RH MapX326.51UniSTS
Whitehead-RH MapX301.7UniSTS
DXS7491  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq26.3UniSTS
GeneMap99-GB4 RH MapX326.61UniSTS
Whitehead-RH MapX304.4UniSTS
NCBI RH MapX716.1UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR126hsa-miR-126-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:7779
Count of miRNA genes:1445
Interacting mature miRNAs:1936
Transcripts:ENST00000320676, ENST00000419968, ENST00000431446, ENST00000464781, ENST00000496459, ENST00000561733, ENST00000562646, ENST00000563370, ENST00000565438, ENST00000565907, ENST00000567262, ENST00000568578, ENST00000570135
Prediction methods:Microtar, Miranda, Pita, 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.


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 2439 2791 1706 604 1822 445 4357 2128 3591 417 1460 1613 175 1 1204 2788 6 2
Low 200 20 20 129 20 69 143 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001164803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_028476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_028477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA160187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL683813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY464692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM147410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM993214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU587845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA925805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC337568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z23064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000320676   ⟹   ENSP00000359645
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,873,461 - 136,880,725 (-)Ensembl
RefSeq Acc Id: ENST00000419968   ⟹   ENSP00000405117
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,872,275 - 136,879,431 (-)Ensembl
RefSeq Acc Id: ENST00000431446   ⟹   ENSP00000411989
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,869,187 - 136,880,725 (-)Ensembl
RefSeq Acc Id: ENST00000464781   ⟹   ENSP00000456048
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,873,449 - 136,880,725 (-)Ensembl
RefSeq Acc Id: ENST00000496459
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,869,192 - 136,873,982 (-)Ensembl
RefSeq Acc Id: ENST00000561733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,848,004 - 136,873,425 (-)Ensembl
RefSeq Acc Id: ENST00000562646   ⟹   ENSP00000457051
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,873,958 - 136,880,725 (-)Ensembl
RefSeq Acc Id: ENST00000563370   ⟹   ENSP00000454777
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,877,916 - 136,880,725 (-)Ensembl
RefSeq Acc Id: ENST00000565438   ⟹   ENSP00000457866
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,873,978 - 136,880,764 (-)Ensembl
RefSeq Acc Id: ENST00000565907
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,879,017 - 136,880,722 (-)Ensembl
RefSeq Acc Id: ENST00000567262
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,876,600 - 136,880,725 (-)Ensembl
RefSeq Acc Id: ENST00000568578   ⟹   ENSP00000457691
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,869,194 - 136,880,722 (-)Ensembl
RefSeq Acc Id: NM_001164803   ⟹   NP_001158275
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,869,192 - 136,880,725 (-)NCBI
GRCh37X135,951,353 - 135,962,939 (-)ENTREZGENE
HuRefX125,221,196 - 125,232,578 (-)ENTREZGENE
CHM1_1X135,863,032 - 135,874,620 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002139   ⟹   NP_002130
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,873,461 - 136,880,725 (-)NCBI
GRCh37X135,951,353 - 135,962,939 (-)ENTREZGENE
Build 36X135,783,285 - 135,790,605 (-)NCBI Archive
HuRefX125,221,196 - 125,232,578 (-)ENTREZGENE
CHM1_1X135,867,284 - 135,874,620 (-)NCBI
Sequence:
RefSeq Acc Id: NR_028476
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,873,461 - 136,880,725 (-)NCBI
GRCh37X135,951,353 - 135,962,939 (-)ENTREZGENE
HuRefX125,221,196 - 125,232,578 (-)ENTREZGENE
CHM1_1X135,867,284 - 135,874,620 (-)NCBI
Sequence:
RefSeq Acc Id: NR_028477
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,873,461 - 136,880,725 (-)NCBI
GRCh37X135,951,353 - 135,962,939 (-)ENTREZGENE
HuRefX125,221,196 - 125,232,578 (-)ENTREZGENE
CHM1_1X135,867,284 - 135,874,620 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001158275   ⟸   NM_001164803
- Peptide Label: isoform 2
- UniProtKB: P38159 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002130   ⟸   NM_002139
- Peptide Label: isoform 1
- UniProtKB: P38159 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000456048   ⟸   ENST00000464781
RefSeq Acc Id: ENSP00000359645   ⟸   ENST00000320676
RefSeq Acc Id: ENSP00000405117   ⟸   ENST00000419968
RefSeq Acc Id: ENSP00000457051   ⟸   ENST00000562646
RefSeq Acc Id: ENSP00000454777   ⟸   ENST00000563370
RefSeq Acc Id: ENSP00000411989   ⟸   ENST00000431446
RefSeq Acc Id: ENSP00000457866   ⟸   ENST00000565438
RefSeq Acc Id: ENSP00000457691   ⟸   ENST00000568578
Protein Domains
RBM1CTR   RRM

Promoters
RGD ID:6809175
Promoter ID:HG_KWN:68225
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000058509
Position:
Human AssemblyChrPosition (strand)Source
Build 36X135,784,876 - 135,785,617 (-)MPROMDB
RGD ID:6814840
Promoter ID:HG_XEF:8762
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_001025663,   NM_001079728,   NM_001091512,   NM_001107420,   NM_001173457,   NM_009033,   NM_212598,   NR_002903
Position:
Human AssemblyChrPosition (strand)Source
Build 36X135,789,796 - 135,790,296 (-)MPROMDB
RGD ID:6809173
Promoter ID:HG_KWN:68226
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_001164803,   NM_002139,   NR_028476,   NR_028477,   UC004FAD.1,   UC004FAG.1,   UC010NSF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X135,790,436 - 135,791,237 (-)MPROMDB
RGD ID:6851634
Promoter ID:EP73619
Type:single initiation site
Name:HS_RBMX
Description:RNA binding motif protein, X chromosome.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36X135,790,550 - 135,790,610EPD
RGD ID:13628226
Promoter ID:EPDNEW_H29389
Type:initiation region
Name:RBMX_1
Description:RNA binding motif protein, X-linked
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
GRCh38X136,880,725 - 136,880,785EPDNEW

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 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
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 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
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 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq26.3-27.1(chrX:136522136-140417943)x2 copy number gain See cases [RCV000052469] ChrX:136522136..140417943 [GRCh38]
ChrX:135604295..139500108 [GRCh37]
ChrX:135431961..139327774 [NCBI36]
ChrX:Xq26.3-27.1
pathogenic
GRCh38/hg38 Xq26.3(chrX:136613664-137581772)x3 copy number gain See cases [RCV000052470] ChrX:136613664..137581772 [GRCh38]
ChrX:135695823..136663931 [GRCh37]
ChrX:135523489..136491597 [NCBI36]
ChrX:Xq26.3
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-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-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 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
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 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
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 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
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 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
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 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
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 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
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 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
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 Xq26.2-26.3(chrX:133532321-137519462)x2 copy number gain See cases [RCV000140818] ChrX:133532321..137519462 [GRCh38]
ChrX:132666349..136601621 [GRCh37]
ChrX:132494015..136429287 [NCBI36]
ChrX:Xq26.2-26.3
likely 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 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
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 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
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-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 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
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 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
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
Single allele duplication Chromosome Xq26.3 duplication syndrome [RCV000235066] ChrX:135601430..136192229 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xq26.3(chrX:135602028-136259908)x2 copy number gain Chromosome Xq26.3 duplication syndrome [RCV000210453] ChrX:135602028..136259908 [GRCh37]
ChrX:Xq26.3
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 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 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
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
NM_002139.4(RBMX):c.782+4A>C single nucleotide variant not specified [RCV000611109] ChrX:136875254 [GRCh38]
ChrX:135957413 [GRCh37]
ChrX:Xq26.3
likely benign
NM_002139.4(RBMX):c.389-8T>C single nucleotide variant Syndromic X-linked intellectual disability Shashi type [RCV000625831] ChrX:136876663 [GRCh38]
ChrX:135958822 [GRCh37]
ChrX:Xq26.3
likely pathogenic|uncertain significance
RBMX, 23-BP DEL, EX9 deletion Syndromic X-linked intellectual disability Shashi type [RCV000412659] ChrX:Xq26.3 pathogenic
Single allele duplication Chromosome Xq26.3 duplication syndrome [RCV000415468] ChrX:135622314..136191699 [GRCh37]
ChrX:Xq26.3
likely pathogenic
Single allele duplication Chromosome Xq26.3 duplication syndrome [RCV000415470] ChrX:135533330..136123779 [GRCh37]
ChrX:Xq26.3
likely pathogenic
Single allele duplication Chromosome Xq26.3 duplication syndrome [RCV000415471] ChrX:135596446..136254970 [GRCh37]
ChrX:Xq26.3
likely pathogenic
Single allele duplication Chromosome Xq26.3 duplication syndrome [RCV000415472] ChrX:135549274..136126345 [GRCh37]
ChrX:Xq26.3
likely pathogenic
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 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
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-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 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-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 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
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 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
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 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
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 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_002139.4(RBMX):c.891A>G (p.Thr297=) single nucleotide variant not specified [RCV000455488] ChrX:136874427 [GRCh38]
ChrX:135956586 [GRCh37]
ChrX:Xq26.3
likely benign
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 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
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 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
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 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
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
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
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
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
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-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_002139.4(RBMX):c.866-2_866-1insTATGAGAGTTAT insertion CIC-DUX Sarcoma [RCV000993824] ChrX:136874453..136874454 [GRCh38]
ChrX:135956612..135956613 [GRCh37]
ChrX:Xq26.3
not provided
NM_002139.4(RBMX):c.-1del deletion CIC-DUX Sarcoma [RCV000993821] ChrX:136879428 [GRCh38]
ChrX:135961587 [GRCh37]
ChrX:Xq26.3
not provided
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely 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 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_002139.4(RBMX):c.591A>G (p.Glu197=) single nucleotide variant Syndromic X-linked intellectual disability Shashi type [RCV001328661] ChrX:136875536 [GRCh38]
ChrX:135957695 [GRCh37]
ChrX:Xq26.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9910 AgrOrtholog
COSMIC RBMX COSMIC
Ensembl Genes ENSG00000147274 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000359645 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000405117 UniProtKB/TrEMBL
  ENSP00000411989 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000454777 UniProtKB/TrEMBL
  ENSP00000456048 UniProtKB/TrEMBL
  ENSP00000457051 UniProtKB/TrEMBL
  ENSP00000457691 UniProtKB/TrEMBL
  ENSP00000457866 UniProtKB/TrEMBL
Ensembl Transcript ENST00000320676 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000419968 UniProtKB/TrEMBL
  ENST00000431446 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000464781 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000562646 UniProtKB/TrEMBL
  ENST00000563370 UniProtKB/TrEMBL
  ENST00000565438 UniProtKB/TrEMBL
  ENST00000568578 UniProtKB/TrEMBL
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147274 GTEx
HGNC ID HGNC:9910 ENTREZGENE
Human Proteome Map RBMX Human Proteome Map
InterPro Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBM1CTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:27316 UniProtKB/Swiss-Prot
NCBI Gene 27316 ENTREZGENE
OMIM 300199 OMIM
  300238 OMIM
Pfam RBM1CTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34277 PharmGKB, RGD
PROSITE RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt H0Y6E7_HUMAN UniProtKB/TrEMBL
  H3BNC1_HUMAN UniProtKB/TrEMBL
  H3BR27_HUMAN UniProtKB/TrEMBL
  H3BT71_HUMAN UniProtKB/TrEMBL
  H3BUY5_HUMAN UniProtKB/TrEMBL
  P38159 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4E3U4 UniProtKB/Swiss-Prot
  D3DWH0 UniProtKB/Swiss-Prot
  E9PG86 UniProtKB/Swiss-Prot
  Q5JQ67 UniProtKB/Swiss-Prot
  Q8N8Y7 UniProtKB/Swiss-Prot
  Q969R3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 RBMX  RNA binding motif protein X-linked    RNA binding motif protein, X-linked  Symbol and/or name change 5135510 APPROVED
2017-08-24 RBMX  RNA binding motif protein, X-linked  MRXS11  mental retardation, X-linked, syndromic 11  Data Merged 737654 PROVISIONAL