RPS4X (ribosomal protein S4 X-linked) - Rat Genome Database

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Gene: RPS4X (ribosomal protein S4 X-linked) Homo sapiens
Analyze
Symbol: RPS4X
Name: ribosomal protein S4 X-linked
RGD ID: 1353859
HGNC Page HGNC
Description: A structural constituent of ribosome. Involved in several processes, including positive regulation of cell population proliferation; positive regulation of translation; and translation. Localizes to cytoplasmic ribonucleoprotein granule; cytosolic small ribosomal subunit; and polysome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 40S ribosomal protein S4, X isoform; CCG2; cell cycle gene 2; DXS306; FLJ40595; ribosomal protein S4, X-linked; ribosomal protein S4X isoform; RPS4; S4; SCAR; SCR10; single copy abundant mRNA protein; single-copy abundant mRNA; small ribosomal subunit protein eS4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: RPS4XP1   RPS4XP10   RPS4XP11   RPS4XP12   RPS4XP13   RPS4XP14   RPS4XP15   RPS4XP16   RPS4XP17   RPS4XP18   RPS4XP19   RPS4XP20   RPS4XP21   RPS4XP22   RPS4XP23   RPS4XP3   RPS4XP4   RPS4XP5   RPS4XP6   RPS4XP7   RPS4XP8   RPS4XP9  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX72,255,679 - 72,277,248 (-)EnsemblGRCh38hg38GRCh38
GRCh38X72,272,042 - 72,277,248 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X71,491,892 - 71,497,098 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X71,409,178 - 71,413,866 (-)NCBINCBI36hg18NCBI36
Build 34X71,275,474 - 71,280,162NCBI
CeleraX71,835,666 - 71,840,357 (-)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX65,247,573 - 65,252,264 (-)NCBIHuRef
CHM1_1X71,385,460 - 71,390,151 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

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:1795030   PMID:2124517   PMID:2829364   PMID:6188845   PMID:8076819   PMID:8125298   PMID:8139551   PMID:8358435   PMID:8557258   PMID:8706699   PMID:8722009   PMID:8808278  
PMID:9582194   PMID:9889097   PMID:11401437   PMID:11721045   PMID:11790298   PMID:12477932   PMID:12588972   PMID:12777385   PMID:14660691   PMID:14702039   PMID:15121898   PMID:15189156  
PMID:15489334   PMID:15883184   PMID:16169070   PMID:16263121   PMID:17289661   PMID:17620599   PMID:17643375   PMID:18259216   PMID:18457437   PMID:19725029   PMID:19738201   PMID:19946888  
PMID:20020773   PMID:20308691   PMID:20434207   PMID:20458337   PMID:21081503   PMID:21081666   PMID:21145461   PMID:21182203   PMID:21182205   PMID:21280222   PMID:21319273   PMID:21423176  
PMID:21873635   PMID:21988832   PMID:22145905   PMID:22174317   PMID:22268729   PMID:22586326   PMID:22623428   PMID:22658674   PMID:22681889   PMID:22863883   PMID:22939629   PMID:23125841  
PMID:23184937   PMID:23246001   PMID:23376485   PMID:23398456   PMID:23438482   PMID:23443559   PMID:23455922   PMID:23463506   PMID:23800275   PMID:23979707   PMID:24457600   PMID:24503063  
PMID:24625528   PMID:24657165   PMID:24711643   PMID:24965446   PMID:25144556   PMID:25147182   PMID:25324306   PMID:25437307   PMID:25670202   PMID:25731206   PMID:25796446   PMID:25798074  
PMID:25921289   PMID:25940091   PMID:25963833   PMID:26186194   PMID:26209609   PMID:26344197   PMID:26381412   PMID:26460568   PMID:26496610   PMID:26549023   PMID:26561776   PMID:26673895  
PMID:26693507   PMID:26725010   PMID:26816005   PMID:26979993   PMID:27025967   PMID:27049334   PMID:27545878   PMID:27591049   PMID:27684187   PMID:27976729   PMID:28302793   PMID:28416769  
PMID:28443643   PMID:28514442   PMID:28515276   PMID:28581483   PMID:28902428   PMID:28927264   PMID:28977470   PMID:28977666   PMID:29117863   PMID:29212245   PMID:29228324   PMID:29229926  
PMID:29331416   PMID:29449217   PMID:29467282   PMID:29507755   PMID:29511296   PMID:29568061   PMID:29669786   PMID:29721183   PMID:29777862   PMID:29802200   PMID:29844126   PMID:29845934  
PMID:29859926   PMID:29955894   PMID:30021884   PMID:30209976   PMID:30258100   PMID:30320910   PMID:30344098   PMID:30425250   PMID:30455355   PMID:30459231   PMID:30463901   PMID:30575818  
PMID:30619335   PMID:30699358   PMID:30804502   PMID:30940648   PMID:30948266   PMID:30997501   PMID:31048545   PMID:31059266   PMID:31091453   PMID:31152661   PMID:31180492   PMID:31239290  
PMID:31253590   PMID:31391242   PMID:31405213   PMID:31501420   PMID:31586073   PMID:31640799   PMID:31685992   PMID:31732153   PMID:31995728   PMID:32041737   PMID:32120844   PMID:32129710  
PMID:32457219   PMID:32529326   PMID:32786267   PMID:32788342   PMID:32814053  


Genomics

Comparative Map Data
RPS4X
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX72,255,679 - 72,277,248 (-)EnsemblGRCh38hg38GRCh38
GRCh38X72,272,042 - 72,277,248 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X71,491,892 - 71,497,098 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X71,409,178 - 71,413,866 (-)NCBINCBI36hg18NCBI36
Build 34X71,275,474 - 71,280,162NCBI
CeleraX71,835,666 - 71,840,357 (-)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX65,247,573 - 65,252,264 (-)NCBIHuRef
CHM1_1X71,385,460 - 71,390,151 (-)NCBICHM1_1
Rps4x
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X101,228,547 - 101,232,997 (-)NCBIGRCm39mm39
GRCm39 EnsemblX101,228,547 - 101,233,000 (-)Ensembl
GRCm38X102,184,941 - 102,189,391 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX102,184,941 - 102,189,394 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X99,380,282 - 99,384,645 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X98,387,662 - 98,392,025 (-)NCBImm8
CeleraX89,097,025 - 89,101,322 (-)NCBICelera
Cytogenetic MapXDNCBI
cM MapX45.2NCBI
Rps4x
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X67,298,522 - 67,302,965 (-)NCBI
Rnor_6.0 EnsemblX72,074,108 - 72,078,551 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl435,729,628 - 35,730,599 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X72,074,108 - 72,078,551 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X72,916,030 - 72,920,452 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X90,249,368 - 90,253,817 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX67,652,304 - 67,656,747 (-)NCBICelera
Cytogenetic MapXq22NCBI
Rps4x
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547511,655,813 - 11,662,391 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547511,656,537 - 11,661,803 (-)NCBIChiLan1.0ChiLan1.0
RPS4X
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X71,593,324 - 71,598,042 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX71,593,324 - 71,598,042 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X61,508,955 - 61,513,689 (-)NCBIMhudiblu_PPA_v0panPan3
RPS4X
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X56,290,914 - 56,296,267 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX56,182,729 - 56,296,274 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX47,117,017 - 47,122,368 (-)NCBI
ROS_Cfam_1.0X57,345,348 - 57,350,715 (-)NCBI
UMICH_Zoey_3.1X55,253,287 - 55,258,639 (-)NCBI
UNSW_CanFamBas_1.0X56,663,284 - 56,668,634 (-)NCBI
UU_Cfam_GSD_1.0X56,505,786 - 56,511,141 (-)NCBI
Rps4x
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X45,610,931 - 45,615,597 (+)NCBI
SpeTri2.0NW_0049367621,364,238 - 1,368,858 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RPS4X
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX58,149,308 - 58,155,193 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X58,149,302 - 58,155,179 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X65,859,070 - 65,864,948 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RPS4X
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X62,093,900 - 62,098,528 (-)NCBI
ChlSab1.1 EnsemblX62,093,902 - 62,097,466 (-)Ensembl
Rps4x
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249032,511,238 - 2,516,401 (-)NCBI

Position Markers
G36429  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,496,946 - 71,497,057UniSTSGRCh37
Build 36X71,413,671 - 71,413,782RGDNCBI36
CeleraX71,840,162 - 71,840,273RGD
Cytogenetic MapXq13.1UniSTS
HuRefX65,252,069 - 65,252,180UniSTS
RPS4X-chi  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,496,926 - 71,497,025UniSTSGRCh37
Build 36X71,413,651 - 71,413,750RGDNCBI36
CeleraX71,840,142 - 71,840,241RGD
HuRefX65,252,049 - 65,252,148UniSTS
RH48402  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,492,068 - 71,492,201UniSTSGRCh37
Build 36X71,408,793 - 71,408,926RGDNCBI36
CeleraX71,835,281 - 71,835,414RGD
Cytogenetic MapXq13.1UniSTS
HuRefX65,247,188 - 65,247,321UniSTS
GeneMap99-GB4 RH MapX243.89UniSTS
DXS6724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,493,614 - 71,493,862UniSTSGRCh37
Build 36X71,410,339 - 71,410,587RGDNCBI36
CeleraX71,836,827 - 71,837,075RGD
Cytogenetic MapXq13.1UniSTS
HuRefX65,248,734 - 65,248,982UniSTS
Stanford-G3 RH MapX2738.0UniSTS
GeneMap99-GB4 RH MapX244.16UniSTS
Whitehead-RH MapX180.9UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX481.4UniSTS
RPS4X  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,494,947 - 71,495,440UniSTSGRCh37
Build 36X71,411,672 - 71,412,165RGDNCBI36
CeleraX71,838,160 - 71,838,656RGD
HuRefX65,250,067 - 65,250,563UniSTS
STS-N95431  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,492,462 - 71,493,146UniSTSGRCh37
CeleraX71,835,675 - 71,836,359UniSTS
Cytogenetic MapXq13.1UniSTS
HuRefX65,247,582 - 65,248,266UniSTS
GeneMap99-GB4 RH Map649.55UniSTS
NCBI RH Map6114.4UniSTS
GDB:192505  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq13.1UniSTS
GDB:451634  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq13.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1511
Count of miRNA genes:914
Interacting mature miRNAs:1056
Transcripts:ENST00000316084, ENST00000373626, ENST00000470671, ENST00000486733, ENST00000492695
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 380 344 292 57 787 48 1604 103 210 125 771 387 14 214 773 2
Medium 2052 2640 1431 565 1161 416 2751 2090 3498 293 677 1221 157 990 2015 2
Low 7 6 3 1 3 1 1 3 25 1 12 5 4 1 1 1
Below cutoff 1 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF041428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL135749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU192706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L24369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M22146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M58458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z70767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000316084   ⟹   ENSP00000362744
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX72,272,042 - 72,277,248 (-)Ensembl
RefSeq Acc Id: ENST00000373626
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX72,274,255 - 72,277,248 (-)Ensembl
RefSeq Acc Id: ENST00000470671
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX72,255,679 - 72,273,371 (-)Ensembl
RefSeq Acc Id: ENST00000486733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX72,272,713 - 72,276,227 (-)Ensembl
RefSeq Acc Id: ENST00000492695
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX72,255,784 - 72,272,723 (-)Ensembl
RefSeq Acc Id: NM_001007   ⟹   NP_000998
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,272,042 - 72,277,248 (-)NCBI
GRCh37X71,492,453 - 71,497,141 (-)ENTREZGENE
Build 36X71,409,178 - 71,413,866 (-)NCBI Archive
HuRefX65,247,573 - 65,252,264 (-)ENTREZGENE
CHM1_1X71,385,460 - 71,390,151 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000998   ⟸   NM_001007
- UniProtKB: P62701 (UniProtKB/Swiss-Prot),   B2R491 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000362744   ⟸   ENST00000316084
Protein Domains
S4 RNA-binding

Promoters
RGD ID:6809238
Promoter ID:HG_KWN:67231
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000057192
Position:
Human AssemblyChrPosition (strand)Source
Build 36X71,408,836 - 71,410,187 (-)MPROMDB
RGD ID:6809237
Promoter ID:HG_KWN:67232
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000057191
Position:
Human AssemblyChrPosition (strand)Source
Build 36X71,409,896 - 71,410,947 (-)MPROMDB
RGD ID:6809236
Promoter ID:HG_KWN:67233
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:OTTHUMT00000057190
Position:
Human AssemblyChrPosition (strand)Source
Build 36X71,412,416 - 71,413,767 (-)MPROMDB
RGD ID:6808774
Promoter ID:HG_KWN:67234
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562,   Lymphoblastoid
Transcripts:ENST00000373626,   OTTHUMT00000057188
Position:
Human AssemblyChrPosition (strand)Source
Build 36X71,413,541 - 71,414,041 (-)MPROMDB
RGD ID:6850778
Promoter ID:EP73183
Type:multiple initiation site
Name:HS_RPS4X
Description:Ribosomal protein S4, X-linked.
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 36X71,413,793 - 71,413,853EPD
RGD ID:13627446
Promoter ID:EPDNEW_H28998
Type:initiation region
Name:RPS4X_1
Description:ribosomal protein S4, 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
GRCh38X72,277,218 - 72,277,278EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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:10679-156022206)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)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:10679-156013167)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 Xp11.21-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 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 Xq12-21.1(chrX:67621041-76868590)x2 copy number gain See cases [RCV000052416] ChrX:67621041..76868590 [GRCh38]
ChrX:66840883..76009501 [GRCh37]
ChrX:66757608..76005403 [NCBI36]
ChrX:Xq12-21.1
pathogenic
GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2 copy number gain See cases [RCV000052417] ChrX:68382004..75243150 [GRCh38]
ChrX:67601846..74462985 [GRCh37]
ChrX:67518571..74379710 [NCBI36]
ChrX:Xq12-13.3
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-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)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: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: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: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: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 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1
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 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 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 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 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-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-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 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 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 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 Xq13.1(chrX:71810439-72381499)x3 copy number gain See cases [RCV000138759] ChrX:71810439..72381499 [GRCh38]
ChrX:71030289..71530833 [GRCh37]
ChrX:70947014..71518074 [NCBI36]
ChrX:Xq13.1
likely benign
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 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 Xq13.1(chrX:71991402-72276492)x2 copy number gain See cases [RCV000141397] ChrX:71991402..72276492 [GRCh38]
ChrX:71211252..71496342 [GRCh37]
ChrX:71127977..71413067 [NCBI36]
ChrX:Xq13.1
uncertain significance
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 Xq12-21.1(chrX:66445907-78172208)x3 copy number gain See cases [RCV000142336] ChrX:66445907..78172208 [GRCh38]
ChrX:65665749..77427705 [GRCh37]
ChrX:65582474..77314361 [NCBI36]
ChrX:Xq12-21.1
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 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-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 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3
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 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
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 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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
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 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 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:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [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 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..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 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-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: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: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:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [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:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-21.1(chrX:71316395-84337550)x3 copy number gain See cases [RCV000447565] ChrX:71316395..84337550 [GRCh37]
ChrX:Xq13.1-21.1
uncertain significance
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:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
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
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-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 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.1-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
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
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 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 Xp22.31-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 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
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 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
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:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
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 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:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
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 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
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 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
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 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001007.5(RPS4X):c.82-7G>T single nucleotide variant not provided [RCV000933563] ChrX:72275731 [GRCh38]
ChrX:71495581 [GRCh37]
ChrX:Xq13.1
benign
GRCh37/hg19 Xq13.1(chrX:71401787-71617388)x2 copy number gain not provided [RCV001249396] ChrX:71401787..71617388 [GRCh37]
ChrX:Xq13.1
not provided
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 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10424 AgrOrtholog
COSMIC RPS4X COSMIC
Ensembl Genes ENSG00000198034 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000362744 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000316084 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.30.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.40.50.740 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198034 GTEx
HGNC ID HGNC:10424 ENTREZGENE
Human Proteome Map RPS4X Human Proteome Map
InterPro 40S_S4_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KOW UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KOW_RPS4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rib_L2_dom2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S4e UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S4e_central_region UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S4e_central_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S4e_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S4e_N_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S4_RNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6191 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6191 ENTREZGENE
OMIM 312760 OMIM
PANTHER PTHR11581 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 40S_S4_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KOW UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF01479 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S4e UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RS4NT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34839 PharmGKB
PIRSF Ribosomal_S4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PS50889 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RIBOSOMAL_S4E UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00363 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R491 ENTREZGENE, UniProtKB/TrEMBL
  P62701 ENTREZGENE
  Q96IR1_HUMAN UniProtKB/TrEMBL
  RS4X_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary P12631 UniProtKB/Swiss-Prot
  P12750 UniProtKB/Swiss-Prot
  P27576 UniProtKB/Swiss-Prot
  P55831 UniProtKB/Swiss-Prot
  Q14727 UniProtKB/Swiss-Prot
  Q6IPY4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 RPS4X  ribosomal protein S4 X-linked    ribosomal protein S4, X-linked  Symbol and/or name change 5135510 APPROVED
2011-08-17 RPS4X  ribosomal protein S4, X-linked  RPS4X  ribosomal protein S4, X-linked  Symbol and/or name change 5135510 APPROVED