DDX3X (DEAD-box helicase 3 X-linked) - Rat Genome Database

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Gene: DDX3X (DEAD-box helicase 3 X-linked) Homo sapiens
Analyze
Symbol: DDX3X
Name: DEAD-box helicase 3 X-linked
RGD ID: 1352934
HGNC Page HGNC
Description: Exhibits several functions, including eukaryotic initiation factor 4E binding activity; nucleic acid binding activity; and nucleoside-triphosphatase activity. Involved in several processes, including positive regulation of type I interferon production; regulation of cellular protein metabolic process; and regulation of signal transduction. Localizes to several cellular components, including centrosome; cytoplasmic stress granule; and nucleoplasm. Colocalizes with cytosolic small ribosomal subunit and eukaryotic translation initiation factor 3 complex. Implicated in syndromic X-linked intellectual disability.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATP-dependent RNA helicase DDX3X; CAP-Rf; DBX; DDX14; DDX3; DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked; DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked; DEAD box protein 3, X-chromosomal; DEAD box, X isoform; DEAD-box helicase 3, X-linked; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3; DEAD/H box-3; helicase like protein 2; helicase-like protein 2; HLP2; MRX102; MRXSSB
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: DDX3P3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX41,333,284 - 41,364,472 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX41,333,348 - 41,364,472 (+)EnsemblGRCh38hg38GRCh38
GRCh38X41,333,308 - 41,364,472 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X41,192,561 - 41,223,725 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X41,077,595 - 41,094,471 (+)NCBINCBI36hg18NCBI36
Build 34X40,948,904 - 40,979,978NCBI
CeleraX45,333,407 - 45,350,283 (+)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX38,924,970 - 38,941,587 (+)NCBIHuRef
CHM1_1X41,225,277 - 41,256,447 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process
cell differentiation  (IBA)
cellular response to arsenic-containing substance  (IDA)
cellular response to osmotic stress  (IDA)
cellular response to virus  (IDA)
chromosome segregation  (IMP)
DNA duplex unwinding  (IEA)
extrinsic apoptotic signaling pathway via death domain receptors  (IMP)
gamete generation  (IBA)
innate immune response  (IMP)
intracellular signal transduction  (IDA)
intrinsic apoptotic signaling pathway  (IMP)
lipid homeostasis  (IMP)
mature ribosome assembly  (IMP)
negative regulation by host of viral genome replication  (ISO)
negative regulation of apoptotic process  (IMP)
negative regulation of cell growth  (IDA)
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  (IMP)
negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  (IMP)
negative regulation of intrinsic apoptotic signaling pathway  (IMP)
negative regulation of NIK/NF-kappaB signaling  (IMP)
negative regulation of protein-containing complex assembly  (IDA)
negative regulation of translation  (IMP)
neutrophil degranulation  (TAS)
positive regulation of apoptotic process  (IMP)
positive regulation of canonical Wnt signaling pathway  (IMP)
positive regulation of cell growth  (IMP)
positive regulation of chemokine (C-C motif) ligand 5 production  (TAS)
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  (IMP)
positive regulation of G1/S transition of mitotic cell cycle  (IMP)
positive regulation of gene expression  (IDA)
positive regulation of interferon-alpha production  (IDA)
positive regulation of interferon-beta production  (IDA,TAS)
positive regulation of NIK/NF-kappaB signaling  (IMP)
positive regulation of NLRP3 inflammasome complex assembly  (ISS)
positive regulation of protein acetylation  (IMP)
positive regulation of protein autophosphorylation  (IDA)
positive regulation of protein K63-linked ubiquitination  (IDA)
positive regulation of protein serine/threonine kinase activity  (IDA)
positive regulation of toll-like receptor 7 signaling pathway  (IDA)
positive regulation of toll-like receptor 8 signaling pathway  (IDA)
positive regulation of transcription by RNA polymerase II  (IDA,IMP)
positive regulation of transcription, DNA-templated  (ISO)
positive regulation of translation  (IDA,IMP)
positive regulation of translation in response to endoplasmic reticulum stress  (IMP)
positive regulation of translational initiation  (IMP)
positive regulation of viral genome replication  (IMP)
primary miRNA processing  (IEA,ISO)
protein localization to cytoplasmic stress granule  (IMP)
response to virus  (IDA)
RNA secondary structure unwinding  (IDA)
stress granule assembly  (IDA)
translational initiation  (IMP)
Wnt signaling pathway  (IMP)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:9381176   PMID:9730595   PMID:10074132   PMID:10329544   PMID:10336476   PMID:10859333   PMID:11256614   PMID:11710523   PMID:12477932   PMID:14559993   PMID:14729942   PMID:14743216  
PMID:15047060   PMID:15161933   PMID:15231748   PMID:15489334   PMID:15507209   PMID:15516266   PMID:15588285   PMID:15592455   PMID:15998806   PMID:16055720   PMID:16094384   PMID:16097034  
PMID:16159877   PMID:16301996   PMID:16341674   PMID:16344560   PMID:16354571   PMID:16611982   PMID:16712791   PMID:16818630   PMID:17108031   PMID:17353931   PMID:17357160   PMID:17401195  
PMID:17620599   PMID:17631897   PMID:17661632   PMID:17667941   PMID:17696464   PMID:17855521   PMID:18029348   PMID:18187620   PMID:18247557   PMID:18259889   PMID:18264132   PMID:18320585  
PMID:18377426   PMID:18508616   PMID:18583960   PMID:18596238   PMID:18628297   PMID:18632687   PMID:18636090   PMID:18729074   PMID:18845156   PMID:18846110   PMID:18976975   PMID:18985028  
PMID:19056867   PMID:19135240   PMID:19149558   PMID:19199708   PMID:19322201   PMID:19380743   PMID:19394292   PMID:19454010   PMID:19738201   PMID:19782656   PMID:19793905   PMID:19913487  
PMID:19961560   PMID:20018238   PMID:20020773   PMID:20080577   PMID:20127681   PMID:20131911   PMID:20308691   PMID:20348541   PMID:20458337   PMID:20508642   PMID:20657822   PMID:20811636  
PMID:20837705   PMID:20862261   PMID:20890123   PMID:21080425   PMID:21081503   PMID:21081666   PMID:21145461   PMID:21170385   PMID:21182205   PMID:21237216   PMID:21280222   PMID:21319273  
PMID:21358275   PMID:21360055   PMID:21428961   PMID:21448281   PMID:21549307   PMID:21575865   PMID:21589879   PMID:21698775   PMID:21726808   PMID:21730191   PMID:21873635   PMID:21883093  
PMID:21942715   PMID:22113938   PMID:22145905   PMID:22174317   PMID:22210892   PMID:22268729   PMID:22270009   PMID:22323517   PMID:22412018   PMID:22492871   PMID:22616990   PMID:22623428  
PMID:22658674   PMID:22681889   PMID:22810585   PMID:22863883   PMID:22872150   PMID:22939629   PMID:23084401   PMID:23125841   PMID:23151878   PMID:23330003   PMID:23402259   PMID:23410059  
PMID:23413191   PMID:23438482   PMID:23463506   PMID:23478265   PMID:23527197   PMID:23584477   PMID:23606618   PMID:23608157   PMID:23673860   PMID:23754689   PMID:23816991   PMID:23840900  
PMID:23974721   PMID:24140279   PMID:24169621   PMID:24183723   PMID:24189637   PMID:24244333   PMID:24330569   PMID:24332808   PMID:24418539   PMID:24457600   PMID:24584351   PMID:24639526  
PMID:24711643   PMID:24855944   PMID:24965446   PMID:25039764   PMID:25043297   PMID:25144556   PMID:25188302   PMID:25208899   PMID:25231298   PMID:25315684   PMID:25324306   PMID:25343452  
PMID:25377784   PMID:25382417   PMID:25437271   PMID:25437307   PMID:25468996   PMID:25496916   PMID:25515538   PMID:25538732   PMID:25631074   PMID:25678563   PMID:25723178   PMID:25724843  
PMID:25740981   PMID:25756610   PMID:25796446   PMID:25820276   PMID:25918862   PMID:25921289   PMID:25948554   PMID:25963833   PMID:26030138   PMID:26087195   PMID:26100019   PMID:26167880  
PMID:26174373   PMID:26192917   PMID:26209609   PMID:26217791   PMID:26235985   PMID:26290144   PMID:26311743   PMID:26337079   PMID:26344197   PMID:26364611   PMID:26454002   PMID:26496610  
PMID:26598523   PMID:26638075   PMID:26643866   PMID:26673895   PMID:26693507   PMID:26760575   PMID:26777405   PMID:26816005   PMID:27007150   PMID:27012366   PMID:27025967   PMID:27058758  
PMID:27105836   PMID:27118832   PMID:27159028   PMID:27180681   PMID:27300509   PMID:27344963   PMID:27507811   PMID:27545878   PMID:27546789   PMID:27586307   PMID:27591049   PMID:27609421  
PMID:27684187   PMID:27736973   PMID:27976729   PMID:27980081   PMID:27999982   PMID:28027390   PMID:28128295   PMID:28148788   PMID:28327206   PMID:28371085   PMID:28380382   PMID:28402257  
PMID:28416769   PMID:28431233   PMID:28435452   PMID:28515276   PMID:28533407   PMID:28611246   PMID:28718761   PMID:28733330   PMID:28842590   PMID:28902428   PMID:28927264   PMID:28977666  
PMID:28986522   PMID:29053956   PMID:29062139   PMID:29203243   PMID:29222110   PMID:29228324   PMID:29229926   PMID:29261807   PMID:29331416   PMID:29395067   PMID:29490693   PMID:29491746  
PMID:29507755   PMID:29511296   PMID:29580812   PMID:29621097   PMID:29735542   PMID:29782654   PMID:29802200   PMID:29844126   PMID:29845934   PMID:29884807   PMID:29899501   PMID:29921696  
PMID:29955894   PMID:30001425   PMID:30131165   PMID:30209976   PMID:30256975   PMID:30320910   PMID:30341167   PMID:30349055   PMID:30425250   PMID:30429220   PMID:30442662   PMID:30459231  
PMID:30462309   PMID:30463901   PMID:30531905   PMID:30559450   PMID:30575818   PMID:30585729   PMID:30619335   PMID:30711629   PMID:30734472   PMID:30737378   PMID:30804502   PMID:30809309  
PMID:30816053   PMID:30926334   PMID:30936465   PMID:30940648   PMID:30948266   PMID:30979777   PMID:31048545   PMID:31059266   PMID:31091453   PMID:31172579   PMID:31178390   PMID:31180492  
PMID:31216476   PMID:31235588   PMID:31239290   PMID:31253590   PMID:31300519   PMID:31300642   PMID:31391454   PMID:31501420   PMID:31511697   PMID:31568920   PMID:31575075   PMID:31587919  
PMID:31620119   PMID:31762063   PMID:31974865   PMID:32041737   PMID:32051553   PMID:32135084   PMID:32529326   PMID:32553121   PMID:32626994   PMID:32780723   PMID:32786267   PMID:32814053  
PMID:32852922   PMID:33106406   PMID:33137198  


Genomics

Comparative Map Data
DDX3X
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX41,333,284 - 41,364,472 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX41,333,348 - 41,364,472 (+)EnsemblGRCh38hg38GRCh38
GRCh38X41,333,308 - 41,364,472 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X41,192,561 - 41,223,725 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X41,077,595 - 41,094,471 (+)NCBINCBI36hg18NCBI36
Build 34X40,948,904 - 40,979,978NCBI
CeleraX45,333,407 - 45,350,283 (+)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX38,924,970 - 38,941,587 (+)NCBIHuRef
CHM1_1X41,225,277 - 41,256,447 (+)NCBICHM1_1
Ddx3x
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X13,147,261 - 13,160,222 (+)NCBIGRCm39mm39
GRCm39 EnsemblX13,147,209 - 13,160,291 (+)Ensembl
GRCm38X13,280,496 - 13,293,988 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX13,280,970 - 13,294,052 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X12,858,148 - 12,871,109 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X12,437,997 - 12,449,573 (+)NCBImm8
CeleraX10,940,806 - 10,968,272 (+)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX8.17NCBI
Ddx3x
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X9,479,532 - 9,493,455 (-)NCBI
Rnor_6.0 EnsemblX10,400,366 - 10,413,995 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X10,400,363 - 10,414,010 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X11,198,745 - 11,212,383 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X21,495,072 - 21,508,690 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX10,011,280 - 10,024,898 (-)NCBICelera
Cytogenetic MapXq12NCBI
Ddx3x
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555651,386,973 - 1,404,220 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555651,387,043 - 1,403,624 (-)NCBIChiLan1.0ChiLan1.0
DDX3X
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X41,474,515 - 41,491,479 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX41,475,116 - 41,505,837 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X33,780,381 - 33,796,829 (+)NCBIMhudiblu_PPA_v0panPan3
DDX3X
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X35,759,367 - 35,789,759 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX35,759,416 - 35,789,774 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX23,107,814 - 23,138,223 (+)NCBI
ROS_Cfam_1.0X35,809,592 - 35,840,330 (+)NCBI
UMICH_Zoey_3.1X35,887,325 - 35,918,053 (+)NCBI
UNSW_CanFamBas_1.0X35,859,851 - 35,889,927 (+)NCBI
UU_Cfam_GSD_1.0X35,902,946 - 35,933,679 (+)NCBI
Ddx3x
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X27,967,669 - 27,979,844 (+)NCBI
SpeTri2.0NW_0049365027,770,896 - 7,820,555 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DDX3X
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX36,988,031 - 37,044,769 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X36,988,031 - 37,005,496 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X41,162,232 - 41,177,756 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DDX3X
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X38,513,251 - 38,539,982 (+)NCBI
Ddx3x
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476214,290,267 - 14,305,437 (-)NCBI

Position Markers
U42386  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,208,503 - 41,208,653UniSTSGRCh37
Build 36X41,093,447 - 41,093,597RGDNCBI36
CeleraX45,349,259 - 45,349,409RGD
HuRefX38,940,682 - 38,940,832UniSTS
SHGC-33274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37826,922,488 - 26,922,612UniSTSGRCh37
GRCh37X41,208,339 - 41,208,463UniSTSGRCh37
Build 36X41,093,283 - 41,093,407RGDNCBI36
CeleraX45,349,095 - 45,349,219RGD
Celera825,885,419 - 25,885,543UniSTS
Cytogenetic MapXp11.3-p11.23UniSTS
HuRef825,467,239 - 25,467,363UniSTS
HuRefX38,940,518 - 38,940,642UniSTS
TNG Radiation Hybrid Map1057118.0UniSTS
DDX3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X74,898,162 - 74,898,350UniSTSGRCh37
GRCh37X41,209,188 - 41,209,373UniSTSGRCh37
Build 36X41,094,132 - 41,094,317RGDNCBI36
CeleraX45,349,944 - 45,350,129RGD
CeleraX75,181,486 - 75,181,674UniSTS
HuRefX38,941,248 - 38,941,433UniSTS
HuRefX68,532,194 - 68,532,382UniSTS
HuRefX38,939,324 - 38,939,595UniSTS
RH78345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37826,922,489 - 26,922,612UniSTSGRCh37
GRCh37X41,208,339 - 41,208,462UniSTSGRCh37
Build 36X41,093,283 - 41,093,406RGDNCBI36
CeleraX45,349,095 - 45,349,218RGD
Celera825,885,420 - 25,885,543UniSTS
Cytogenetic MapXp11.3-p11.23UniSTS
HuRef825,467,240 - 25,467,363UniSTS
HuRefX38,940,518 - 38,940,641UniSTS
GeneMap99-GB4 RH Map8104.64UniSTS
G34988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,223,624 - 41,223,722UniSTSGRCh37
Build 36X41,108,568 - 41,108,666RGDNCBI36
CeleraX45,364,387 - 45,364,485RGD
Cytogenetic MapXp11.3-p11.23UniSTS
HuRefX38,954,897 - 38,954,995UniSTS
DXS7525  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,191,163 - 41,191,339UniSTSGRCh37
Build 36X41,076,107 - 41,076,283RGDNCBI36
CeleraX45,331,919 - 45,332,095RGD
Cytogenetic MapXp11.3-p11.23UniSTS
HuRefX38,923,482 - 38,923,658UniSTS
Whitehead-RH MapX42.2UniSTS
NCBI RH MapX149.6UniSTS
UniSTS:51773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,209,347 - 41,209,463UniSTSGRCh37
GRCh3710118,781,751 - 118,781,867UniSTSGRCh37
Build 36X41,094,291 - 41,094,407RGDNCBI36
CeleraX45,350,103 - 45,350,219RGD
Celera10112,511,095 - 112,511,211UniSTS
HuRef10112,409,880 - 112,409,996UniSTS
HuRefX38,941,407 - 38,941,523UniSTS
DBX  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,209,110 - 41,209,205UniSTSGRCh37
GRCh37X74,898,333 - 74,898,429UniSTSGRCh37
Build 36X41,094,054 - 41,094,149RGDNCBI36
CeleraX45,349,866 - 45,349,961RGD
CeleraX75,181,657 - 75,181,754UniSTS
G41926  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.3-p11.23UniSTS
DDX3X  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,204,449 - 41,205,516UniSTSGRCh37
CeleraX45,345,205 - 45,346,272UniSTS
Cytogenetic MapXp11.3-p11.23UniSTS
G49473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,201,783 - 41,203,030UniSTSGRCh37
CeleraX45,342,539 - 45,343,786UniSTS
Cytogenetic MapXp11.3-p11.23UniSTS
HuRefX38,934,102 - 38,935,349UniSTS
DDX3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X74,898,162 - 74,898,350UniSTSGRCh37
GRCh37X41,209,188 - 41,209,373UniSTSGRCh37
Build 36X41,094,132 - 41,094,317RGDNCBI36
CeleraX45,349,944 - 45,350,129RGD
CeleraX75,181,486 - 75,181,674UniSTS
HuRefX38,941,248 - 38,941,433UniSTS
HuRefX68,532,194 - 68,532,382UniSTS
HuRefX38,939,324 - 38,939,595UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR629hsa-miR-629-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:3023
Count of miRNA genes:1179
Interacting mature miRNAs:1446
Transcripts:ENST00000399959, ENST00000441189, ENST00000457138, ENST00000478993, ENST00000480592, ENST00000542215
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 1 1
Medium 2432 2881 1714 613 1902 455 4354 2137 3604 417 1447 1608 171 1204 2788 4
Low 2 106 12 10 46 9 2 57 126 2 11 3 1 2 1
Below cutoff 3 1 1 2 1 1 4 1 2 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_126093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_126094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA481139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB208983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF000982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF000983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF061337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI698207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL391647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU144400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY776161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC055083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF980241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM454841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM833870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ921695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB107740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA232063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB065845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L37696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U50553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z93015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000399959   ⟹   ENSP00000382840
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,162 - 41,350,274 (+)Ensembl
RefSeq Acc Id: ENST00000441189   ⟹   ENSP00000414281
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,162 - 41,349,860 (+)Ensembl
RefSeq Acc Id: ENST00000457138   ⟹   ENSP00000392494
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,333,913 - 41,350,224 (+)Ensembl
RefSeq Acc Id: ENST00000478993   ⟹   ENSP00000478443
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,333,398 - 41,364,472 (+)Ensembl
RefSeq Acc Id: ENST00000480592
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,162 - 41,339,604 (+)Ensembl
RefSeq Acc Id: ENST00000542215   ⟹   ENSP00000493687
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,591 - 41,346,551 (+)Ensembl
RefSeq Acc Id: ENST00000610559
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,333,348 - 41,341,494 (+)Ensembl
RefSeq Acc Id: ENST00000611546
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,333,349 - 41,341,596 (+)Ensembl
RefSeq Acc Id: ENST00000611968   ⟹   ENSP00000479790
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,346,320 - 41,348,138 (+)Ensembl
RefSeq Acc Id: ENST00000615313   ⟹   ENSP00000496257
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,610 - 41,342,542 (+)Ensembl
RefSeq Acc Id: ENST00000615742   ⟹   ENSP00000480647
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,162 - 41,342,506 (+)Ensembl
RefSeq Acc Id: ENST00000616050   ⟹   ENSP00000487626
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,345,486 - 41,364,463 (+)Ensembl
RefSeq Acc Id: ENST00000622198
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,614 - 41,342,744 (+)Ensembl
RefSeq Acc Id: ENST00000622373
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,610 - 41,336,738 (+)Ensembl
RefSeq Acc Id: ENST00000625837   ⟹   ENSP00000486306
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,333,348 - 41,364,472 (+)Ensembl
RefSeq Acc Id: ENST00000626301   ⟹   ENSP00000486443
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,333,348 - 41,364,472 (+)Ensembl
RefSeq Acc Id: ENST00000629496   ⟹   ENSP00000487224
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,333,348 - 41,350,287 (+)Ensembl
RefSeq Acc Id: ENST00000629785   ⟹   ENSP00000486516
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,333,348 - 41,364,472 (+)Ensembl
RefSeq Acc Id: ENST00000630255   ⟹   ENSP00000486720
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,333,348 - 41,364,472 (+)Ensembl
RefSeq Acc Id: ENST00000630370   ⟹   ENSP00000487062
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,333,348 - 41,364,472 (+)Ensembl
RefSeq Acc Id: ENST00000630858   ⟹   ENSP00000486514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,333,348 - 41,364,472 (+)Ensembl
RefSeq Acc Id: ENST00000631641
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,162 - 41,344,531 (+)Ensembl
RefSeq Acc Id: ENST00000642161
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,340,012 - 41,350,255 (+)Ensembl
RefSeq Acc Id: ENST00000642322   ⟹   ENSP00000496052
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,613 - 41,349,891 (+)Ensembl
RefSeq Acc Id: ENST00000642424   ⟹   ENSP00000496356
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,340,009 - 41,350,195 (+)Ensembl
RefSeq Acc Id: ENST00000642589
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,339,943 - 41,349,884 (+)Ensembl
RefSeq Acc Id: ENST00000642597
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,162 - 41,349,886 (+)Ensembl
RefSeq Acc Id: ENST00000642624
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,257 - 41,343,409 (+)Ensembl
RefSeq Acc Id: ENST00000642687
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,342,640 - 41,350,205 (+)Ensembl
RefSeq Acc Id: ENST00000642722
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,162 - 41,349,886 (+)Ensembl
RefSeq Acc Id: ENST00000642763
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,341,320 - 41,347,782 (+)Ensembl
RefSeq Acc Id: ENST00000642793   ⟹   ENSP00000493976
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,162 - 41,350,243 (+)Ensembl
RefSeq Acc Id: ENST00000642801
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,343,024 - 41,350,200 (+)Ensembl
RefSeq Acc Id: ENST00000643820
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,343,989 - 41,347,694 (+)Ensembl
RefSeq Acc Id: ENST00000643821   ⟹   ENSP00000493997
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,012 - 41,338,780 (+)Ensembl
RefSeq Acc Id: ENST00000643963   ⟹   ENSP00000495264
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,164 - 41,350,247 (+)Ensembl
RefSeq Acc Id: ENST00000644073   ⟹   ENSP00000493475
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,606 - 41,349,886 (+)Ensembl
RefSeq Acc Id: ENST00000644074   ⟹   ENSP00000496663
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,162 - 41,350,265 (+)Ensembl
RefSeq Acc Id: ENST00000644109   ⟹   ENSP00000494952
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,162 - 41,349,886 (+)Ensembl
RefSeq Acc Id: ENST00000644260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,341,505 - 41,343,441 (+)Ensembl
RefSeq Acc Id: ENST00000644307
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,162 - 41,350,168 (+)Ensembl
RefSeq Acc Id: ENST00000644513   ⟹   ENSP00000493819
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,162 - 41,349,884 (+)Ensembl
RefSeq Acc Id: ENST00000644677   ⟹   ENSP00000496524
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,610 - 41,349,850 (+)Ensembl
RefSeq Acc Id: ENST00000644876   ⟹   ENSP00000494040
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,333,284 - 41,351,668 (+)Ensembl
RefSeq Acc Id: ENST00000644958
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,162 - 41,349,886 (+)Ensembl
RefSeq Acc Id: ENST00000645080   ⟹   ENSP00000494767
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,162 - 41,349,891 (+)Ensembl
RefSeq Acc Id: ENST00000645120
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,621 - 41,349,886 (+)Ensembl
RefSeq Acc Id: ENST00000645253
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,339,910 - 41,342,836 (+)Ensembl
RefSeq Acc Id: ENST00000645338
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,162 - 41,350,258 (+)Ensembl
RefSeq Acc Id: ENST00000645380
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,339,948 - 41,349,886 (+)Ensembl
RefSeq Acc Id: ENST00000645561
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,162 - 41,349,897 (+)Ensembl
RefSeq Acc Id: ENST00000645574
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,340,022 - 41,349,851 (+)Ensembl
RefSeq Acc Id: ENST00000645589   ⟹   ENSP00000494588
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,162 - 41,349,867 (+)Ensembl
RefSeq Acc Id: ENST00000645783   ⟹   ENSP00000494905
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,245 - 41,341,543 (+)Ensembl
RefSeq Acc Id: ENST00000646093
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,344,191 - 41,346,259 (+)Ensembl
RefSeq Acc Id: ENST00000646107   ⟹   ENSP00000494518
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,634 - 41,349,694 (+)Ensembl
RefSeq Acc Id: ENST00000646122   ⟹   ENSP00000496222
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,162 - 41,349,886 (+)Ensembl
RefSeq Acc Id: ENST00000646196
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,162 - 41,350,254 (+)Ensembl
RefSeq Acc Id: ENST00000646223   ⟹   ENSP00000496043
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,164 - 41,351,668 (+)Ensembl
RefSeq Acc Id: ENST00000646319   ⟹   ENSP00000495377
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,175 - 41,350,209 (+)Ensembl
RefSeq Acc Id: ENST00000646390
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,340,006 - 41,348,583 (+)Ensembl
RefSeq Acc Id: ENST00000646627   ⟹   ENSP00000493795
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,335,123 - 41,348,158 (+)Ensembl
RefSeq Acc Id: ENST00000646679   ⟹   ENSP00000494887
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,341,070 - 41,350,163 (+)Ensembl
RefSeq Acc Id: ENST00000646822
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,162 - 41,349,739 (+)Ensembl
RefSeq Acc Id: ENST00000646940
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,162 - 41,350,205 (+)Ensembl
RefSeq Acc Id: ENST00000647219
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,334,162 - 41,341,869 (+)Ensembl
RefSeq Acc Id: ENST00000647286
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,342,320 - 41,349,889 (+)Ensembl
RefSeq Acc Id: ENST00000647373   ⟹   ENSP00000496076
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,342,737 - 41,344,109 (+)Ensembl
RefSeq Acc Id: ENST00000647477
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,345,495 - 41,349,881 (+)Ensembl
RefSeq Acc Id: NM_001193416   ⟹   NP_001180345
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,334,162 - 41,351,668 (+)NCBI
GRCh37X41,192,561 - 41,209,527 (+)NCBI
HuRefX38,924,970 - 38,941,587 (+)ENTREZGENE
CHM1_1X41,226,131 - 41,242,255 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001193417   ⟹   NP_001180346
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,334,162 - 41,351,668 (+)NCBI
GRCh37X41,192,561 - 41,209,527 (+)NCBI
HuRefX38,924,970 - 38,941,587 (+)ENTREZGENE
CHM1_1X41,226,131 - 41,242,255 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001356   ⟹   NP_001347
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,334,162 - 41,350,274 (+)NCBI
GRCh37X41,192,561 - 41,209,527 (+)NCBI
Build 36X41,077,595 - 41,094,471 (+)NCBI Archive
HuRefX38,924,970 - 38,941,587 (+)ENTREZGENE
CHM1_1X41,225,277 - 41,242,255 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363819   ⟹   NP_001350748
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,334,166 - 41,350,287 (+)NCBI
RefSeq Acc Id: NR_126093
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,333,308 - 41,364,472 (+)NCBI
CHM1_1X41,225,277 - 41,256,447 (+)NCBI
Sequence:
RefSeq Acc Id: NR_126094
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,334,162 - 41,338,777 (+)NCBI
CHM1_1X41,226,131 - 41,230,537 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543892   ⟹   XP_011542194
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,334,131 - 41,350,267 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029313   ⟹   XP_016884802
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,333,308 - 41,350,211 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001347   ⟸   NM_001356
- Peptide Label: isoform 1
- UniProtKB: O00571 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001180345   ⟸   NM_001193416
- Peptide Label: isoform 2
- UniProtKB: O00571 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001180346   ⟸   NM_001193417
- Peptide Label: isoform 3
- UniProtKB: O00571 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542194   ⟸   XM_011543892
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016884802   ⟸   XM_017029313
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001350748   ⟸   NM_001363819
- Peptide Label: isoform 4
RefSeq Acc Id: ENSP00000382840   ⟸   ENST00000399959
RefSeq Acc Id: ENSP00000493687   ⟸   ENST00000542215
RefSeq Acc Id: ENSP00000478443   ⟸   ENST00000478993
RefSeq Acc Id: ENSP00000486306   ⟸   ENST00000625837
RefSeq Acc Id: ENSP00000479790   ⟸   ENST00000611968
RefSeq Acc Id: ENSP00000486443   ⟸   ENST00000626301
RefSeq Acc Id: ENSP00000414281   ⟸   ENST00000441189
RefSeq Acc Id: ENSP00000392494   ⟸   ENST00000457138
RefSeq Acc Id: ENSP00000487224   ⟸   ENST00000629496
RefSeq Acc Id: ENSP00000496257   ⟸   ENST00000615313
RefSeq Acc Id: ENSP00000486516   ⟸   ENST00000629785
RefSeq Acc Id: ENSP00000480647   ⟸   ENST00000615742
RefSeq Acc Id: ENSP00000487626   ⟸   ENST00000616050
RefSeq Acc Id: ENSP00000496356   ⟸   ENST00000642424
RefSeq Acc Id: ENSP00000496052   ⟸   ENST00000642322
RefSeq Acc Id: ENSP00000493976   ⟸   ENST00000642793
RefSeq Acc Id: ENSP00000495264   ⟸   ENST00000643963
RefSeq Acc Id: ENSP00000493997   ⟸   ENST00000643821
RefSeq Acc Id: ENSP00000496524   ⟸   ENST00000644677
RefSeq Acc Id: ENSP00000493819   ⟸   ENST00000644513
RefSeq Acc Id: ENSP00000487062   ⟸   ENST00000630370
RefSeq Acc Id: ENSP00000494040   ⟸   ENST00000644876
RefSeq Acc Id: ENSP00000486720   ⟸   ENST00000630255
RefSeq Acc Id: ENSP00000494952   ⟸   ENST00000644109
RefSeq Acc Id: ENSP00000493475   ⟸   ENST00000644073
RefSeq Acc Id: ENSP00000496663   ⟸   ENST00000644074
RefSeq Acc Id: ENSP00000486514   ⟸   ENST00000630858
RefSeq Acc Id: ENSP00000494905   ⟸   ENST00000645783
RefSeq Acc Id: ENSP00000494767   ⟸   ENST00000645080
RefSeq Acc Id: ENSP00000494588   ⟸   ENST00000645589
RefSeq Acc Id: ENSP00000495377   ⟸   ENST00000646319
RefSeq Acc Id: ENSP00000496043   ⟸   ENST00000646223
RefSeq Acc Id: ENSP00000494518   ⟸   ENST00000646107
RefSeq Acc Id: ENSP00000496222   ⟸   ENST00000646122
RefSeq Acc Id: ENSP00000494887   ⟸   ENST00000646679
RefSeq Acc Id: ENSP00000493795   ⟸   ENST00000646627
RefSeq Acc Id: ENSP00000496076   ⟸   ENST00000647373
Promoters
RGD ID:6808626
Promoter ID:HG_KWN:66486
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_001356,   OTTHUMT00000056254,   UC004DFD.1,   UC004DFF.1,   UC010NHF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X41,077,061 - 41,078,432 (+)MPROMDB
RGD ID:6814829
Promoter ID:HG_XEF:8574
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_001086814,   NM_001101775,   NM_203865
Position:
Human AssemblyChrPosition (strand)Source
Build 36X41,080,526 - 41,081,026 (+)MPROMDB
RGD ID:6813786
Promoter ID:HG_ACW:83731
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:DDX3X.OAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36X41,082,281 - 41,082,781 (+)MPROMDB
RGD ID:13605082
Promoter ID:EPDNEW_H28725
Type:initiation region
Name:DDX3X_2
Description:DEAD-box helicase 3, X-linked
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28726  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,333,353 - 41,333,413EPDNEW
RGD ID:13605084
Promoter ID:EPDNEW_H28726
Type:initiation region
Name:DDX3X_1
Description:DEAD-box helicase 3, X-linked
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28725  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,334,162 - 41,334,222EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001193416.3(DDX3X):c.1181G>A (p.Arg394His) single nucleotide variant not provided [RCV000519312] ChrX:41345414 [GRCh38]
ChrX:41204667 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001193416.3(DDX3X):c.979C>G (p.Leu327Val) single nucleotide variant not provided [RCV000523594] ChrX:41344353 [GRCh38]
ChrX:41203606 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001193416.3(DDX3X):c.1423C>T (p.Arg475Cys) single nucleotide variant not provided [RCV000523821] ChrX:41346336 [GRCh38]
ChrX:41205589 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_001356.4(DDX3X):c.874C>T (p.Arg292Ter) single nucleotide variant History of neurodevelopmental disorder [RCV000718415]|Mental retardation, X-linked 102 [RCV001174975]|not provided [RCV000519583] ChrX:41344248 [GRCh38]
ChrX:41203501 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_001356.4(DDX3X):c.1601dup (p.Val535fs) duplication Inborn genetic diseases [RCV000624510] ChrX:41346607..41346608 [GRCh38]
ChrX:41205860..41205861 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.679+3_679+4inv inversion not provided [RCV000523217] ChrX:41343354..41343355 [GRCh38]
ChrX:41202607..41202608 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001193416.3(DDX3X):c.1865G>T (p.Ser622Ile) single nucleotide variant not provided [RCV000523261] ChrX:41347410 [GRCh38]
ChrX:41206663 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001193416.3(DDX3X):c.544-1G>T single nucleotide variant not provided [RCV000521736] ChrX:41343215 [GRCh38]
ChrX:41202468 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.1769+1G>A single nucleotide variant Inborn genetic diseases [RCV000624644]|not provided [RCV000519464] ChrX:41347013 [GRCh38]
ChrX:41206266 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.1575T>A (p.Tyr525Ter) single nucleotide variant Mental retardation, X-linked 102 [RCV001196847] ChrX:41346582 [GRCh38]
ChrX:41205835 [GRCh37]
ChrX:Xp11.4
likely pathogenic
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 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
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: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:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_001356.4(DDX3X):c.1486G>A (p.Val496Met) single nucleotide variant Mental retardation, X-linked 102 [RCV000660645] ChrX:41346399 [GRCh38]
ChrX:41205652 [GRCh37]
ChrX:Xp11.4
likely 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
NM_001356.4(DDX3X):c.1520T>C (p.Ile507Thr) single nucleotide variant Mental retardation, X-linked 102 [RCV000190551] ChrX:41346527 [GRCh38]
ChrX:41205780 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.977G>A (p.Arg326His) single nucleotide variant Inborn genetic diseases [RCV000623237]|Mental retardation, X-linked 102 [RCV000190552]|not provided [RCV000521776] ChrX:41344351 [GRCh38]
ChrX:41203604 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.873C>A (p.Tyr291Ter) single nucleotide variant Mental retardation, X-linked 102 [RCV000190553] ChrX:41344247 [GRCh38]
ChrX:41203500 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.1084C>T (p.Arg362Cys) single nucleotide variant Mental retardation, X-linked 102 [RCV000190554] ChrX:41345238 [GRCh38]
ChrX:41204491 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001363819.1(DDX3X):c.-357_-354dup duplication not provided [RCV000514961] ChrX:41341532..41341533 [GRCh38]
ChrX:41200785..41200786 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001193417.3(DDX3X):c.856G>A (p.Gly286Ser) single nucleotide variant Mental retardation, X-linked 102 [RCV000211100] ChrX:41344278 [GRCh38]
ChrX:41203531 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001356.5(DDX3X):c.846C>A (p.Ile282=) single nucleotide variant Mental retardation, X-linked 102 [RCV001332989] ChrX:41344110 [GRCh38]
ChrX:41203363 [GRCh37]
ChrX:Xp11.4
uncertain 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: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 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
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
NM_001356.4(DDX3X):c.577G>T (p.Gly193Ter) single nucleotide variant Mental retardation, X-linked 102 [RCV000211113] ChrX:41343249 [GRCh38]
ChrX:41202502 [GRCh37]
ChrX:Xp11.4
pathogenic|likely 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: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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 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 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp11.4(chrX:40883294-41689223)x2 copy number gain See cases [RCV000135419] ChrX:40883294..41689223 [GRCh38]
ChrX:40742547..41548476 [GRCh37]
ChrX:40627491..41433420 [NCBI36]
ChrX:Xp11.4
uncertain significance
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-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: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-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 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
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 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] 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)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001193416.3(DDX3X):c.635C>A (p.Pro212His) single nucleotide variant not provided [RCV000255056] ChrX:41343307 [GRCh38]
ChrX:41202560 [GRCh37]
ChrX:Xp11.4
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
NM_001193416.2(DDX3X):c.698C>T (p.Ala233Val) single nucleotide variant not provided [RCV000190100] ChrX:41343755 [GRCh38]
ChrX:41203008 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001193416.2(DDX3X):c.704T>C (p.Leu235Pro) single nucleotide variant not provided [RCV000190101] ChrX:41343761 [GRCh38]
ChrX:41203014 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001193416.2(DDX3X):c.944G>T (p.Arg315Leu) single nucleotide variant not provided [RCV000190102] ChrX:41344318 [GRCh38]
ChrX:41203571 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001193416.3(DDX3X):c.1541T>C (p.Ile514Thr) single nucleotide variant Neurodevelopmental abnormality [RCV001264651]|not provided [RCV000190103] ChrX:41346548 [GRCh38]
ChrX:41205801 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.1321del (p.Asp441fs) deletion not provided [RCV000190104] ChrX:41346233 [GRCh38]
ChrX:41205486 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001193416.2(DDX3X):c.1383dupA (p.Tyr462Ilefs) duplication not provided [RCV000190105] ChrX:41346296 [GRCh38]
ChrX:41205549 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.1384_1385dupTA (p.His463Thrfs) duplication not provided [RCV000190106] ChrX:41346297..41346298 [GRCh38]
ChrX:41205550..41205551 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs) deletion History of neurodevelopmental disorder [RCV000718596]|Mental retardation, X-linked 102 [RCV001093539]|Rare genetic intellectual disability [RCV001256979]|not provided [RCV000190107] ChrX:41346542..41346543 [GRCh38]
ChrX:41205795..41205796 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.1126C>T (p.Arg376Cys) single nucleotide variant Congenital cerebellar hypoplasia [RCV001257982]|Mental retardation, X-linked 102 [RCV000190550]|not provided [RCV001310709] ChrX:41345280 [GRCh38]
ChrX:41204533 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_001193416.2(DDX3X):c.1175T>C (p.Leu392Pro) single nucleotide variant not provided [RCV000190109] ChrX:41345408 [GRCh38]
ChrX:41204661 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001193416.2(DDX3X):c.1250A>C (p.Gln417Pro) single nucleotide variant not provided [RCV000190110] ChrX:41345483 [GRCh38]
ChrX:41204736 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.1462C>T (p.Arg488Cys) single nucleotide variant Inborn genetic diseases [RCV001266548]|not provided [RCV000505799] ChrX:41346375 [GRCh38]
ChrX:41205628 [GRCh37]
ChrX:Xp11.4
pathogenic|uncertain significance
NM_001193416.3(DDX3X):c.1463G>A (p.Arg488His) single nucleotide variant Mental retardation, X-linked 102 [RCV000656416]|not provided [RCV000190112] ChrX:41346376 [GRCh38]
ChrX:41205629 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001356.4(DDX3X):c.1490C>T (p.Ala497Val) single nucleotide variant Inborn genetic diseases [RCV001265760] ChrX:41346403 [GRCh38]
ChrX:41205656 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.599dupA (p.Tyr200Terfs) duplication not provided [RCV000190114] ChrX:41343271 [GRCh38]
ChrX:41202524 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.1210del (p.Ala404fs) deletion not provided [RCV000505734] ChrX:41345442 [GRCh38]
ChrX:41204695 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001193416.2(DDX3X):c.9_15delTGTGGCA (p.His3Glnfs) deletion not provided [RCV000190116] ChrX:41334261..41334267 [GRCh38]
ChrX:41193514..41193520 [GRCh37]
ChrX:Xp11.4
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 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001356.4(DDX3X):c.745G>T (p.Glu249Ter) single nucleotide variant Mental retardation, X-linked 102 [RCV000209908] ChrX:41343802 [GRCh38]
ChrX:41203055 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.619C>T (p.Gln207Ter) single nucleotide variant Mental retardation, X-linked 102 [RCV000209890] ChrX:41343291 [GRCh38]
ChrX:41202544 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.865-1G>C single nucleotide variant Inborn genetic diseases [RCV000623458]|not provided [RCV001093495] ChrX:41344238 [GRCh38]
ChrX:41203491 [GRCh37]
ChrX:Xp11.4
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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [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
NM_001193416.3(DDX3X):c.543+5G>A single nucleotide variant not provided [RCV000579039] ChrX:41342841 [GRCh38]
ChrX:41202094 [GRCh37]
ChrX:Xp11.4
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
NM_001193416.3(DDX3X):c.1600C>T (p.Arg534Cys) single nucleotide variant Mental retardation, X-linked 102 [RCV000625959] ChrX:41346607 [GRCh38]
ChrX:41205860 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-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
NM_001356.4(DDX3X):c.1462del (p.Arg488fs) deletion not provided [RCV000327317] ChrX:41346374 [GRCh38]
ChrX:41205627 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001193416.3(DDX3X):c.1804C>T (p.Arg602Ter) single nucleotide variant Intellectual disability [RCV001260598]|Mental retardation, X-linked 102 [RCV000767345]|not provided [RCV000328364] ChrX:41347349 [GRCh38]
ChrX:41206602 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001363819.1(DDX3X):c.-1824dup duplication not provided [RCV000368239] ChrX:41337441..41337442 [GRCh38]
ChrX:41196694..41196695 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.233C>G (p.Ser78Ter) single nucleotide variant Inborn genetic diseases [RCV001266460]|not provided [RCV000371670] ChrX:41341565 [GRCh38]
ChrX:41200818 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.1712T>C (p.Leu571Ser) single nucleotide variant not provided [RCV000263868] ChrX:41346955 [GRCh38]
ChrX:41206208 [GRCh37]
ChrX:Xp11.4
likely 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
NM_001193416.3(DDX3X):c.1493C>T (p.Thr498Ile) single nucleotide variant not provided [RCV000489888] ChrX:41346406 [GRCh38]
ChrX:41205659 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.569T>G (p.Ile190Ser) single nucleotide variant Inborn genetic diseases [RCV000623644]|not provided [RCV001327010] ChrX:41343241 [GRCh38]
ChrX:41202494 [GRCh37]
ChrX:Xp11.4
uncertain significance
NC_000023.10:g.(?_39911342)_(41782261_?)dup duplication Mental retardation, X-linked, syndromic, Hedera type [RCV000640920] ChrX:39911342..41782261 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001193416.3(DDX3X):c.869C>G (p.Ser290Ter) single nucleotide variant not provided [RCV000598714] ChrX:41344243 [GRCh38]
ChrX:41203496 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001193416.3(DDX3X):c.40C>T (p.Gln14Ter) single nucleotide variant Intellectual disability [RCV001260599]|not provided [RCV000598857] ChrX:41334292 [GRCh38]
ChrX:41193545 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001193416.3(DDX3X):c.241_242insCTT (p.Lys81delinsThrTer) insertion not provided [RCV000598952] ChrX:41341573..41341574 [GRCh38]
ChrX:41200826..41200827 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.819delinsCT (p.Pro274fs) indel not provided [RCV000598898] ChrX:41344083 [GRCh38]
ChrX:41203336 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001193416.3(DDX3X):c.1675_1677CTT[1] (p.Leu560del) microsatellite Intellectual disability [RCV001260756]|Mental retardation, X-linked 102 [RCV001255961]|not provided [RCV000599287] ChrX:41346917..41346919 [GRCh38]
ChrX:41206170..41206172 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_001193416.3(DDX3X):c.592A>C (p.Thr198Pro) single nucleotide variant not provided [RCV000522090] ChrX:41343264 [GRCh38]
ChrX:41202517 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001193417.3(DDX3X):c.103+1575GC[3] microsatellite PARP Inhibitor response [RCV000626446] ChrX:41339039..41339040 [GRCh38]
ChrX:41198292..41198293 [GRCh37]
ChrX:Xp11.4
drug response
NM_001193416.3(DDX3X):c.489C>G (p.Tyr163Ter) single nucleotide variant not provided [RCV000627323] ChrX:41342782 [GRCh38]
ChrX:41202035 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001356.4(DDX3X):c.1052G>A (p.Arg351Gln) single nucleotide variant Mental retardation, X-linked 102 [RCV000414932] ChrX:41345206 [GRCh38]
ChrX:41204459 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001356.4(DDX3X):c.959_961TAG[1] (p.Val321del) microsatellite Inborn genetic diseases [RCV001267128]|not provided [RCV000523985] ChrX:41344333..41344335 [GRCh38]
ChrX:41203586..41203588 [GRCh37]
ChrX:Xp11.4
pathogenic|uncertain significance
NM_001363819.1(DDX3X):c.-187_-186del deletion not provided [RCV000413210] ChrX:41342581..41342582 [GRCh38]
ChrX:41201834..41201835 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001193416.3(DDX3X):c.1484T>C (p.Leu495Ser) single nucleotide variant not provided [RCV000413345] ChrX:41346397 [GRCh38]
ChrX:41205650 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001356.4(DDX3X):c.1033G>C (p.Val345Leu) single nucleotide variant Medulloblastoma [RCV000505622] ChrX:41345187 [GRCh38]
ChrX:41204440 [GRCh37]
ChrX:Xp11.4
other
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_001356.4(DDX3X):c.1592G>A (p.Arg531His) single nucleotide variant Medulloblastoma [RCV000505558] ChrX:41346599 [GRCh38]
ChrX:41205852 [GRCh37]
ChrX:Xp11.4
other
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..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 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001356.4(DDX3X):c.770dup (p.Asn257fs) duplication Mental retardation, X-linked 102 [RCV000505230] ChrX:41344030..41344031 [GRCh38]
ChrX:41203283..41203284 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.1099dup (p.Gln367fs) duplication Mental retardation, X-linked 102 [RCV000505208] ChrX:41345252..41345253 [GRCh38]
ChrX:41204505..41204506 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001193416.3(DDX3X):c.1667T>C (p.Leu556Ser) single nucleotide variant not provided [RCV000424111] ChrX:41346910 [GRCh38]
ChrX:41206163 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001193416.3(DDX3X):c.675A>G (p.Gln225=) single nucleotide variant not specified [RCV000419369] ChrX:41343347 [GRCh38]
ChrX:41202600 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001356.4(DDX3X):c.1226G>A (p.Gly409Asp) single nucleotide variant Inborn genetic diseases [RCV000624401]|not provided [RCV000433202] ChrX:41345459 [GRCh38]
ChrX:41204712 [GRCh37]
ChrX:Xp11.4
likely pathogenic|uncertain significance
GRCh37/hg19 Xp21.1-11.3(chrX:36667388-44316141)x1 copy number loss See cases [RCV000446005] ChrX:36667388..44316141 [GRCh37]
ChrX:Xp21.1-11.3
pathogenic
NM_001193416.3(DDX3X):c.968C>T (p.Thr323Ile) single nucleotide variant not provided [RCV000434513] ChrX:41344342 [GRCh38]
ChrX:41203595 [GRCh37]
ChrX:Xp11.4
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001356.4(DDX3X):c.1703C>T (p.Pro568Leu) single nucleotide variant Inborn genetic diseases [RCV000622529]|Mental retardation, X-linked 102 [RCV000416455]|not provided [RCV001093496] ChrX:41346946 [GRCh38]
ChrX:41206199 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.362G>T (p.Arg121Leu) single nucleotide variant Mental retardation, X-linked 102 [RCV000416457] ChrX:41342572 [GRCh38]
ChrX:41201825 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001363819.1(DDX3X):c.-367dup duplication Mental retardation, X-linked 102 [RCV000416474] ChrX:41341521..41341522 [GRCh38]
ChrX:41200774..41200775 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp11.4-11.3(chrX:40933552-45379179)x2 copy number gain See cases [RCV000448864] ChrX:40933552..45379179 [GRCh37]
ChrX:Xp11.4-11.3
likely 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
NM_001193416.3(DDX3X):c.659T>C (p.Leu220Ser) single nucleotide variant not provided [RCV000482407] ChrX:41343331 [GRCh38]
ChrX:41202584 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001193416.3(DDX3X):c.443A>G (p.Gln148Arg) single nucleotide variant not provided [RCV000484338] ChrX:41342653 [GRCh38]
ChrX:41201906 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001193416.3(DDX3X):c.1676T>A (p.Leu559His) single nucleotide variant not provided [RCV000482989] ChrX:41346919 [GRCh38]
ChrX:41206172 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001193416.3(DDX3X):c.875G>A (p.Arg292Gln) single nucleotide variant not provided [RCV000484846] ChrX:41344249 [GRCh38]
ChrX:41203502 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001356.4(DDX3X):c.121C>T (p.Pro41Ser) single nucleotide variant Mental retardation, X-linked 102 [RCV001253449]|not provided [RCV000483467] ChrX:41339053 [GRCh38]
ChrX:41198306 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_001193416.3(DDX3X):c.1595C>T (p.Thr532Met) single nucleotide variant Mental retardation, X-linked 102 [RCV001310278]|not provided [RCV000484531] ChrX:41346602 [GRCh38]
ChrX:41205855 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_001193416.3(DDX3X):c.1582C>T (p.Arg528Cys) single nucleotide variant not provided [RCV000484659] ChrX:41346589 [GRCh38]
ChrX:41205842 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001193416.3(DDX3X):c.148A>T (p.Lys50Ter) single nucleotide variant not provided [RCV000484981] ChrX:41339080 [GRCh38]
ChrX:41198333 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.1256del (p.Val419fs) deletion not provided [RCV000477995] ChrX:41345489 [GRCh38]
ChrX:41204742 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001193416.3(DDX3X):c.119C>G (p.Pro40Arg) single nucleotide variant not provided [RCV000478349] ChrX:41339051 [GRCh38]
ChrX:41198304 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001193416.3(DDX3X):c.1438A>G (p.Arg480Gly) single nucleotide variant not provided [RCV000478814] ChrX:41346351 [GRCh38]
ChrX:41205604 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001193416.3(DDX3X):c.1481T>G (p.Ile494Ser) single nucleotide variant not provided [RCV000485793] ChrX:41346394 [GRCh38]
ChrX:41205647 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001193416.3(DDX3X):c.1513C>G (p.Leu505Val) single nucleotide variant not provided [RCV000478952] ChrX:41346520 [GRCh38]
ChrX:41205773 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001193416.3(DDX3X):c.862A>G (p.Lys288Glu) single nucleotide variant not provided [RCV000479176] ChrX:41344126 [GRCh38]
ChrX:41203379 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.236G>A (p.Arg79Lys) single nucleotide variant Mental retardation, X-linked 102 [RCV001093533]|not provided [RCV000478243] ChrX:41341568 [GRCh38]
ChrX:41200821 [GRCh37]
ChrX:Xp11.4
pathogenic|uncertain significance
NM_001356.4(DDX3X):c.1423C>G (p.Arg475Gly) single nucleotide variant Inborn genetic diseases [RCV001266615]|not provided [RCV000486655] ChrX:41346336 [GRCh38]
ChrX:41205589 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001193416.3(DDX3X):c.1144A>C (p.Ser382Arg) single nucleotide variant not provided [RCV000480302] ChrX:41345298 [GRCh38]
ChrX:41204551 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.1203_1205CTT[1] (p.Phe402del) microsatellite not provided [RCV000480376] ChrX:41345435..41345437 [GRCh38]
ChrX:41204688..41204690 [GRCh37]
ChrX:Xp11.4
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
NM_001356.4(DDX3X):c.1710G>A (p.Trp570Ter) single nucleotide variant DDX3X-Related Disorder [RCV000509440] ChrX:41346953 [GRCh38]
ChrX:41206206 [GRCh37]
ChrX:Xp11.4
not provided
NM_001193416.3(DDX3X):c.172T>G (p.Ser58Ala) single nucleotide variant not provided [RCV000497901] ChrX:41341504 [GRCh38]
ChrX:41200757 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001193416.3(DDX3X):c.1334T>G (p.Leu445Ter) single nucleotide variant not provided [RCV000497906] ChrX:41346247 [GRCh38]
ChrX:41205500 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
NM_001356.4(DDX3X):c.623del (p.Lys208fs) deletion not provided [RCV000498348] ChrX:41343292 [GRCh38]
ChrX:41202545 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.864+1delinsTTC indel not provided [RCV000493498] ChrX:41344129 [GRCh38]
ChrX:41203382 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001356.4(DDX3X):c.1498-2A>G single nucleotide variant Inborn genetic diseases [RCV000624206]|not provided [RCV000493731] ChrX:41346503 [GRCh38]
ChrX:41205756 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_001363819.1(DDX3X):c.-304del deletion Mental retardation, X-linked 102 [RCV000678322]|not provided [RCV000493746] ChrX:41341587 [GRCh38]
ChrX:41200840 [GRCh37]
ChrX:Xp11.4
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
NM_001356.4(DDX3X):c.1588G>T (p.Gly530Cys) single nucleotide variant Medulloblastoma [RCV000505686] ChrX:41346595 [GRCh38]
ChrX:41205848 [GRCh37]
ChrX:Xp11.4
other
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 Xp11.4-11.23(chrX:41150139-46528262)x1 copy number loss See cases [RCV000511364] ChrX:41150139..46528262 [GRCh37]
ChrX:Xp11.4-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001193416.3(DDX3X):c.748G>A (p.Ala250Thr) single nucleotide variant not specified [RCV000492974] ChrX:41343805 [GRCh38]
ChrX:41203058 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001193416.3(DDX3X):c.152-1G>C single nucleotide variant not provided [RCV000493150] ChrX:41341483 [GRCh38]
ChrX:41200736 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001356.4(DDX3X):c.641_643delinsCC (p.Ile214fs) indel DDX3X-Related Disorder [RCV001249289]|not provided [RCV000493357] ChrX:41343313..41343315 [GRCh38]
ChrX:41202566..41202568 [GRCh37]
ChrX:Xp11.4
pathogenic|not provided
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001356.4(DDX3X):c.1276_1279del (p.Asp426fs) deletion Inborn genetic diseases [RCV000624480] ChrX:41345507..41345510 [GRCh38]
ChrX:41204760..41204763 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.3G>C (p.Met1Ile) single nucleotide variant Inborn genetic diseases [RCV000622971] ChrX:41334255 [GRCh38]
ChrX:41193508 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.976C>T (p.Arg326Cys) single nucleotide variant Inborn genetic diseases [RCV000624280]|Mental retardation, X-linked 102 [RCV001007875] ChrX:41344350 [GRCh38]
ChrX:41203603 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_001356.4(DDX3X):c.113A>G (p.Tyr38Cys) single nucleotide variant Mental retardation, X-linked 102 [RCV000656409] ChrX:41339045 [GRCh38]
ChrX:41198298 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001193416.3(DDX3X):c.766-11T>C single nucleotide variant not specified [RCV000608143] ChrX:41344019 [GRCh38]
ChrX:41203272 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001356.4(DDX3X):c.784C>T (p.Arg262Cys) single nucleotide variant Inborn genetic diseases [RCV000623442] ChrX:41344048 [GRCh38]
ChrX:41203301 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001356.4(DDX3X):c.616G>A (p.Val206Met) single nucleotide variant Inborn genetic diseases [RCV000623907] ChrX:41343288 [GRCh38]
ChrX:41202541 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.284+1G>C single nucleotide variant Inborn genetic diseases [RCV000624748] ChrX:41341617 [GRCh38]
ChrX:41200870 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.749_750insGCCTC (p.Leu251fs) insertion not provided [RCV000656239] ChrX:41343805..41343806 [GRCh38]
ChrX:41203058..41203059 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001356.4(DDX3X):c.1454dup (p.His485fs) duplication not provided [RCV000627502] ChrX:41346366..41346367 [GRCh38]
ChrX:41205619..41205620 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.1699G>C (p.Val567Leu) single nucleotide variant not provided [RCV000659154] ChrX:41346942 [GRCh38]
ChrX:41206195 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001356.4(DDX3X):c.1616-4_1616-3del deletion not provided [RCV000658325] ChrX:41346853..41346854 [GRCh38]
ChrX:41206106..41206107 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001356.4(DDX3X):c.1284dup (p.Ser429fs) duplication not provided [RCV000657547] ChrX:41345515..41345516 [GRCh38]
ChrX:41204768..41204769 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.820C>T (p.Pro274Ser) single nucleotide variant Mental retardation, X-linked 102 [RCV000677413] ChrX:41344084 [GRCh38]
ChrX:41203337 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001356.4(DDX3X):c.1429C>G (p.Gln477Glu) single nucleotide variant Mental retardation, X-linked 102 [RCV000677395] ChrX:41346342 [GRCh38]
ChrX:41205595 [GRCh37]
ChrX:Xp11.4
pathogenic
Single allele duplication not provided [RCV000677963] ChrX:41194996..41504859 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
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 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_001356.4(DDX3X):c.1538T>C (p.Val513Ala) single nucleotide variant History of neurodevelopmental disorder [RCV000717944] ChrX:41346545 [GRCh38]
ChrX:41205798 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001356.4(DDX3X):c.1770-3T>C single nucleotide variant History of neurodevelopmental disorder [RCV000717928]|not provided [RCV000964156] ChrX:41347309 [GRCh38]
ChrX:41206562 [GRCh37]
ChrX:Xp11.4
benign
NM_001356.4(DDX3X):c.234A>T (p.Ser78=) single nucleotide variant History of neurodevelopmental disorder [RCV000718845]|not provided [RCV000915566] ChrX:41341566 [GRCh38]
ChrX:41200819 [GRCh37]
ChrX:Xp11.4
benign
NM_001356.4(DDX3X):c.969T>C (p.Thr323=) single nucleotide variant History of neurodevelopmental disorder [RCV000716413]|not provided [RCV000908959] ChrX:41344343 [GRCh38]
ChrX:41203596 [GRCh37]
ChrX:Xp11.4
benign|likely benign
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_001356.4(DDX3X):c.536_543+5inv inversion History of neurodevelopmental disorder [RCV000719186] ChrX:41342829..41342841 [GRCh38]
ChrX:41202082..41202094 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001356.4(DDX3X):c.284+3A>T single nucleotide variant History of neurodevelopmental disorder [RCV000719311] ChrX:41341619 [GRCh38]
ChrX:41200872 [GRCh37]
ChrX:Xp11.4
likely benign|uncertain significance
NM_001356.4(DDX3X):c.1170+4C>T single nucleotide variant History of neurodevelopmental disorder [RCV000719426] ChrX:41345328 [GRCh38]
ChrX:41204581 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
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 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001193416.3(DDX3X):c.136C>T (p.Arg46Ter) single nucleotide variant Mental retardation, X-linked 102 [RCV000990793]|not provided [RCV000760483] ChrX:41339068 [GRCh38]
ChrX:41198321 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.744C>T (p.Gly248=) single nucleotide variant not provided [RCV000762623] ChrX:41343801 [GRCh38]
ChrX:41203054 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001356.4(DDX3X):c.822_824del (p.Thr275del) deletion not provided [RCV000762624] ChrX:41344085..41344087 [GRCh38]
ChrX:41203338..41203340 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001356.4(DDX3X):c.912C>T (p.Ala304=) single nucleotide variant not provided [RCV000762625] ChrX:41344286 [GRCh38]
ChrX:41203539 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001193416.3(DDX3X):c.104-3dup duplication not provided [RCV000959722] ChrX:41339026..41339027 [GRCh38]
ChrX:41198279..41198280 [GRCh37]
ChrX:Xp11.4
benign
NM_001193416.3(DDX3X):c.104-10A>T single nucleotide variant not provided [RCV000882844] ChrX:41339026 [GRCh38]
ChrX:41198279 [GRCh37]
ChrX:Xp11.4
benign
NM_001193416.3(DDX3X):c.1935T>C (p.Asp645=) single nucleotide variant not provided [RCV000882845] ChrX:41347668 [GRCh38]
ChrX:41206921 [GRCh37]
ChrX:Xp11.4
benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001356.5(DDX3X):c.1148C>G (p.Ala383Gly) single nucleotide variant Mental retardation, X-linked 102 [RCV000995528] ChrX:41345302 [GRCh38]
ChrX:41204555 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.1316-2A>G single nucleotide variant Mental retardation, X-linked 102 [RCV000995529] ChrX:41346227 [GRCh38]
ChrX:41205480 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.1600C>G (p.Arg534Gly) single nucleotide variant Mental retardation, X-linked 102 [RCV000856741] ChrX:41346607 [GRCh38]
ChrX:41205860 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.1746del (p.Ser583fs) deletion Global developmental delay [RCV001089641] ChrX:41346989 [GRCh38]
ChrX:41206242 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.1439G>C (p.Arg480Thr) single nucleotide variant Cerebellar vermis hypoplasia [RCV000779659]|Congenital cerebellar hypoplasia [RCV001257983] ChrX:41346352 [GRCh38]
ChrX:41205605 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_001356.4(DDX3X):c.833dup (p.Leu278fs) duplication Mental retardation, X-linked 102 [RCV000824881] ChrX:41344095..41344096 [GRCh38]
ChrX:41203348..41203349 [GRCh37]
ChrX:Xp11.4
likely 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
NM_001193416.3(DDX3X):c.849C>T (p.Tyr283=) single nucleotide variant not provided [RCV000899881] ChrX:41344113 [GRCh38]
ChrX:41203366 [GRCh37]
ChrX:Xp11.4
benign
NM_001193416.3(DDX3X):c.1944A>C (p.Gly648=) single nucleotide variant not provided [RCV000919173] ChrX:41347677 [GRCh38]
ChrX:41206930 [GRCh37]
ChrX:Xp11.4
likely benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001356.4(DDX3X):c.826_827AG[2] (p.Glu277fs) microsatellite Mental retardation, X-linked 102 [RCV000824883] ChrX:41344089..41344090 [GRCh38]
ChrX:41203342..41203343 [GRCh37]
ChrX:Xp11.4
likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_001356.4(DDX3X):c.1563dup (p.Ile522fs) duplication Mental retardation, X-linked 102 [RCV000824983] ChrX:41346569..41346570 [GRCh38]
ChrX:41205822..41205823 [GRCh37]
ChrX:Xp11.4
likely 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
NM_001356.5(DDX3X):c.269dup (p.Ser90fs) duplication Mental retardation, X-linked 102 [RCV000990795] ChrX:41341600..41341601 [GRCh38]
ChrX:41200853..41200854 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.4(DDX3X):c.58G>T (p.Asp20Tyr) single nucleotide variant Mental retardation, X-linked 102 [RCV000785091] ChrX:41337420 [GRCh38]
ChrX:41196673 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1 copy number loss not provided [RCV001007291] ChrX:32849282..43713387 [GRCh37]
ChrX:Xp21.1-11.3
pathogenic
NM_001356.5(DDX3X):c.79C>T (p.Gln27Ter) single nucleotide variant not provided [RCV000999402] ChrX:41337441 [GRCh38]
ChrX:41196694 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001193416.3(DDX3X):c.397dup (p.Glu133fs) duplication not provided [RCV000800968] ChrX:41342606..41342607 [GRCh38]
ChrX:41201859..41201860 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001193417.3(DDX3X):c.103+1614del deletion Marfanoid habitus and intellectual disability [RCV000850466] ChrX:41339079 [GRCh38]
ChrX:41198332 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001356.4(DDX3X):c.1180_1185dup (p.Arg394_Asp395dup) duplication Mental retardation, X-linked 102 [RCV000850545] ChrX:41345411..41345412 [GRCh38]
ChrX:41204664..41204665 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001193416.3(DDX3X):c.887G>C (p.Arg296Pro) single nucleotide variant Mental retardation, X-linked 102 [RCV000824882] ChrX:41344261 [GRCh38]
ChrX:41203514 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001193416.3(DDX3X):c.1171-1G>C single nucleotide variant Mental retardation, X-linked 102 [RCV000790479] ChrX:41345403 [GRCh38]
ChrX:41204656 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001193416.3(DDX3X):c.1489G>C (p.Ala497Pro) single nucleotide variant not provided [RCV000819612] ChrX:41346402 [GRCh38]
ChrX:41205655 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001356.5(DDX3X):c.80_81AG[1] (p.Ser28fs) microsatellite not provided [RCV001009107] ChrX:41337442..41337443 [GRCh38]
ChrX:41196695..41196696 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.95_98CAGC[3] (p.Lys35fs) microsatellite Mental retardation, X-linked 102 [RCV000990792] ChrX:41337456..41337457 [GRCh38]
ChrX:41196709..41196710 [GRCh37]
ChrX:Xp11.4
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_001356.5(DDX3X):c.118C>T (p.Pro40Ser) single nucleotide variant not provided [RCV000999403] ChrX:41339050 [GRCh38]
ChrX:41198303 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001356.5(DDX3X):c.67_71dup (p.Asp25fs) duplication not provided [RCV001171565] ChrX:41337427..41337428 [GRCh38]
ChrX:41196680..41196681 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001356.5(DDX3X):c.623_626del (p.Lys208fs) deletion not provided [RCV001171597] ChrX:41343294..41343297 [GRCh38]
ChrX:41202547..41202550 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter) single nucleotide variant Mental retardation, X-linked 102 [RCV000990794] ChrX:41341505 [GRCh38]
ChrX:41200758 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.1503_1504insTGCT (p.Ala502fs) insertion not provided [RCV001008488] ChrX:41346510..41346511 [GRCh38]
ChrX:41205763..41205764 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.95del (p.Thr32fs) deletion not provided [RCV001093492] ChrX:41337457 [GRCh38]
ChrX:41196710 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.641_643del (p.Ile214del) deletion Mental retardation, X-linked 102 [RCV001093537] ChrX:41343312..41343314 [GRCh38]
ChrX:41202565..41202567 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001193416.3(DDX3X):c.966C>T (p.Ala322=) single nucleotide variant not provided [RCV000914891] ChrX:41344340 [GRCh38]
ChrX:41203593 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001193416.3(DDX3X):c.1434G>A (p.Arg478=) single nucleotide variant not provided [RCV000911682] ChrX:41346347 [GRCh38]
ChrX:41205600 [GRCh37]
ChrX:Xp11.4
benign
NM_001356.5(DDX3X):c.1424G>A (p.Arg475His) single nucleotide variant not provided [RCV000999404] ChrX:41346337 [GRCh38]
ChrX:41205590 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001356.5(DDX3X):c.168_169del (p.Asp56fs) deletion not provided [RCV001008615] ChrX:41341499..41341500 [GRCh38]
ChrX:41200752..41200753 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.285-12T>A single nucleotide variant Autistic disorder of childhood onset [RCV001263371] ChrX:41342483 [GRCh38]
ChrX:41201736 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001356.5(DDX3X):c.373dup (p.Ser125fs) duplication not provided [RCV001009206] ChrX:41342582..41342583 [GRCh38]
ChrX:41201835..41201836 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.751_752dup (p.Leu251fs) duplication not provided [RCV001009290] ChrX:41343806..41343807 [GRCh38]
ChrX:41203059..41203060 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.1390G>T (p.Glu464Ter) single nucleotide variant not provided [RCV001007997] ChrX:41346303 [GRCh38]
ChrX:41205556 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.581A>G (p.Asn194Ser) single nucleotide variant not provided [RCV001093494] ChrX:41343253 [GRCh38]
ChrX:41202506 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001356.5(DDX3X):c.1720A>G (p.Met574Val) single nucleotide variant not provided [RCV001093497] ChrX:41346963 [GRCh38]
ChrX:41206216 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001356.5(DDX3X):c.651_652del (p.Asp219fs) deletion Mental retardation, X-linked 102 [RCV001252462] ChrX:41343321..41343322 [GRCh38]
ChrX:41202574..41202575 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.674A>G (p.Gln225Arg) single nucleotide variant Mental retardation, X-linked 102 [RCV001252463] ChrX:41343346 [GRCh38]
ChrX:41202599 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.1127G>A (p.Arg376His) single nucleotide variant Mental retardation, X-linked 102 [RCV001093534] ChrX:41345281 [GRCh38]
ChrX:41204534 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.1511G>A (p.Gly504Glu) single nucleotide variant Mental retardation, X-linked 102 [RCV001093535] ChrX:41346518 [GRCh38]
ChrX:41205771 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.1436_1439delinsTCTC (p.Asp479_Arg480delinsValSer) indel Mental retardation, X-linked 102 [RCV001093536] ChrX:41346349..41346352 [GRCh38]
ChrX:41205602..41205605 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.857C>A (p.Ala286Asp) single nucleotide variant Mental retardation, X-linked 102 [RCV001199268] ChrX:41344121 [GRCh38]
ChrX:41203374 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001356.5(DDX3X):c.643A>T (p.Lys215Ter) single nucleotide variant Mental retardation, X-linked 102 [RCV001197879] ChrX:41343315 [GRCh38]
ChrX:41202568 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.197dup (p.Asp67fs) duplication not provided [RCV001200319] ChrX:41341527..41341528 [GRCh38]
ChrX:41200780..41200781 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.1071_1170+24del deletion Inborn genetic diseases [RCV001267579]|not provided [RCV001042118] ChrX:41345223..41345346 [GRCh38]
ChrX:41204476..41204599 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_001356.5(DDX3X):c.1326A>G (p.Ser442=) single nucleotide variant not provided [RCV001200320] ChrX:41346239 [GRCh38]
ChrX:41205492 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001356.5(DDX3X):c.389_393del (p.Lys130fs) deletion not provided [RCV001093493] ChrX:41342597..41342601 [GRCh38]
ChrX:41201850..41201854 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001356.5(DDX3X):c.589del (p.Thr198fs) deletion Mental retardation, X-linked 102 [RCV001093538] ChrX:41343261 [GRCh38]
ChrX:41202514 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.454dup (p.Ser152fs) duplication Rare genetic intellectual disability [RCV001256998] ChrX:41342743..41342744 [GRCh38]
ChrX:41201996..41201997 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001356.5(DDX3X):c.596G>A (p.Arg199His) single nucleotide variant Mental retardation, X-linked 102 [RCV001255809] ChrX:41343268 [GRCh38]
ChrX:41202521 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001356.5(DDX3X):c.122C>A (p.Pro41His) single nucleotide variant Mental retardation, X-linked 102 [RCV001253093] ChrX:41339054 [GRCh38]
ChrX:41198307 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001356.5(DDX3X):c.780T>G (p.Tyr260Ter) single nucleotide variant Mental retardation, X-linked 102 [RCV001254065] ChrX:41344044 [GRCh38]
ChrX:41203297 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.1454A>C (p.His485Pro) single nucleotide variant Mental retardation, X-linked 102 [RCV001253728] ChrX:41346367 [GRCh38]
ChrX:41205620 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001356.5(DDX3X):c.692C>G (p.Thr231Ser) single nucleotide variant Mental retardation, X-linked 102 [RCV001253654] ChrX:41343749 [GRCh38]
ChrX:41203002 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4-11.3(chrX:41150139-43976458) copy number loss Microcephaly [RCV001252950] ChrX:41150139..43976458 [GRCh37]
ChrX:Xp11.4-11.3
pathogenic
NM_001356.5(DDX3X):c.1448C>A (p.Ala483Asp) single nucleotide variant Mental retardation, X-linked 102 [RCV001252461] ChrX:41346361 [GRCh38]
ChrX:41205614 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.931C>T (p.Arg311Ter) single nucleotide variant Intellectual disability [RCV001260602]|Mental retardation, X-linked 102 [RCV001332990]|not provided [RCV001310708] ChrX:41344305 [GRCh38]
ChrX:41203558 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.1415A>C (p.His472Pro) single nucleotide variant Inborn genetic diseases [RCV001265801] ChrX:41346328 [GRCh38]
ChrX:41205581 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001356.5(DDX3X):c.527C>G (p.Pro176Arg) single nucleotide variant Inborn genetic diseases [RCV001266038] ChrX:41342820 [GRCh38]
ChrX:41202073 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001356.5(DDX3X):c.1298_1299dup (p.Leu434fs) duplication Inborn genetic diseases [RCV001266926] ChrX:41345530..41345531 [GRCh38]
ChrX:41204783..41204784 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.1424G>T (p.Arg475Leu) single nucleotide variant Rare genetic intellectual disability [RCV001257004] ChrX:41346337 [GRCh38]
ChrX:41205590 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001356.5(DDX3X):c.1343T>A (p.Val448Glu) single nucleotide variant Intellectual disability [RCV001260596] ChrX:41346256 [GRCh38]
ChrX:41205509 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001356.5(DDX3X):c.1543A>G (p.Asn515Asp) single nucleotide variant Intellectual disability [RCV001260759] ChrX:41346550 [GRCh38]
ChrX:41205803 [GRCh37]
ChrX:Xp11.4
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001356.5(DDX3X):c.865-2A>G single nucleotide variant Global developmental delay [RCV001255408] ChrX:41344237 [GRCh38]
ChrX:41203490 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.765+1G>A single nucleotide variant Intellectual disability [RCV001260754] ChrX:41343823 [GRCh38]
ChrX:41203076 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.1429C>T (p.Gln477Ter) single nucleotide variant Inborn genetic diseases [RCV001267145] ChrX:41346342 [GRCh38]
ChrX:41205595 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.1537G>A (p.Val513Ile) single nucleotide variant Intellectual disability [RCV001260601] ChrX:41346544 [GRCh38]
ChrX:41205797 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001356.5(DDX3X):c.103+2T>C single nucleotide variant Intellectual disability [RCV001260755] ChrX:41337467 [GRCh38]
ChrX:41196720 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.1537_1541del (p.Val513fs) deletion Intellectual disability [RCV001260758] ChrX:41346542..41346546 [GRCh38]
ChrX:41205795..41205799 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.968_972dup (p.Gly325fs) duplication Intellectual disability [RCV001260597] ChrX:41344338..41344339 [GRCh38]
ChrX:41203591..41203592 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.1195_1199dup (p.Tyr400Ter) duplication Intellectual disability [RCV001260603] ChrX:41345427..41345428 [GRCh38]
ChrX:41204680..41204681 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.1601_1611del (p.Arg534fs) deletion Neurodevelopmental abnormality [RCV001264625] ChrX:41346606..41346616 [GRCh38]
ChrX:41205859..41205869 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.442C>T (p.Gln148Ter) single nucleotide variant not provided [RCV001268469] ChrX:41342652 [GRCh38]
ChrX:41201905 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.77del (p.Asn26fs) deletion not provided [RCV001268169] ChrX:41337438 [GRCh38]
ChrX:41196691 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.1315+1G>C single nucleotide variant not provided [RCV001268641] ChrX:41345549 [GRCh38]
ChrX:41204802 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001356.5(DDX3X):c.828_831del (p.Arg276fs) microsatellite Mental retardation, X-linked 102 [RCV001093538] ChrX:41344089..41344092 [GRCh38]
ChrX:41203342..41203345 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.600T>A (p.Tyr200Ter) single nucleotide variant not provided [RCV001269948] ChrX:41343272 [GRCh38]
ChrX:41202525 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.380G>A (p.Trp127Ter) single nucleotide variant Inborn genetic diseases [RCV001267612] ChrX:41342590 [GRCh38]
ChrX:41201843 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.1859dup (p.Ser620fs) duplication Inborn genetic diseases [RCV001266343] ChrX:41347400..41347401 [GRCh38]
ChrX:41206653..41206654 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001356.5(DDX3X):c.1770-2A>G single nucleotide variant Inborn genetic diseases [RCV001266369] ChrX:41347310 [GRCh38]
ChrX:41206563 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001356.5(DDX3X):c.1839del (p.Phe613fs) deletion Inborn genetic diseases [RCV001267361] ChrX:41347381 [GRCh38]
ChrX:41206634 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001356.5(DDX3X):c.1190_1196del (p.Leu397fs) deletion Inborn genetic diseases [RCV001267423] ChrX:41345423..41345429 [GRCh38]
ChrX:41204676..41204682 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.1398_1401del (p.Ala467fs) deletion Intellectual disability [RCV001260600] ChrX:41346310..41346313 [GRCh38]
ChrX:41205563..41205566 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.543+3_543+6del deletion Intellectual disability [RCV001260757] ChrX:41342837..41342840 [GRCh38]
ChrX:41202090..41202093 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001356.5(DDX3X):c.1315+4A>G single nucleotide variant not provided [RCV001305383] ChrX:41345552 [GRCh38]
ChrX:41204805 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4-11.3(chrX:39645568-44199000) copy number loss Cardiomyopathy [RCV001352652] ChrX:39645568..44199000 [GRCh37]
ChrX:Xp11.4-11.3
pathogenic
NM_001356.5(DDX3X):c.1728T>G (p.Tyr576Ter) single nucleotide variant Mental retardation, X-linked 102 [RCV001281103] ChrX:41346971 [GRCh38]
ChrX:41206224 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.824C>T (p.Thr275Met) single nucleotide variant Mental retardation, X-linked 102 [RCV001336294] ChrX:41344088 [GRCh38]
ChrX:41203341 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001356.5(DDX3X):c.544-8_544-6del deletion Mental retardation, X-linked 102 [RCV001310275] ChrX:41343206..41343208 [GRCh38]
ChrX:41202459..41202461 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001356.5(DDX3X):c.1497+5G>A single nucleotide variant not provided [RCV001310710] ChrX:41346415 [GRCh38]
ChrX:41205668 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001356.5(DDX3X):c.1304T>C (p.Leu435Pro) single nucleotide variant Mental retardation, X-linked 102 [RCV001269284] ChrX:41345537 [GRCh38]
ChrX:41204790 [GRCh37]
ChrX:Xp11.4
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001356.5(DDX3X):c.1574A>G (p.Tyr525Cys) single nucleotide variant Mental retardation, X-linked 102 [RCV001270420] ChrX:41346581 [GRCh38]
ChrX:41205834 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001356.5(DDX3X):c.1658_1662del (p.Thr553fs) deletion not provided [RCV001269944] ChrX:41346901..41346905 [GRCh38]
ChrX:41206154..41206158 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001356.5(DDX3X):c.544T>G (p.Phe182Val) single nucleotide variant Mental retardation, X-linked 102 [RCV001336293] ChrX:41343216 [GRCh38]
ChrX:41202469 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001356.5(DDX3X):c.1815_1817del (p.Ser606del) deletion not provided [RCV001340987] ChrX:41347355..41347357 [GRCh38]
ChrX:41206608..41206610 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001356.5(DDX3X):c.1537G>C (p.Val513Leu) single nucleotide variant Mental retardation, X-linked 102 [RCV001310221] ChrX:41346544 [GRCh38]
ChrX:41205797 [GRCh37]
ChrX:Xp11.4
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2745 AgrOrtholog
COSMIC DDX3X COSMIC
Ensembl Genes ENSG00000215301 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000382840 UniProtKB/TrEMBL
  ENSP00000392494 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000414281 UniProtKB/TrEMBL
  ENSP00000478443 UniProtKB/Swiss-Prot
  ENSP00000479790 UniProtKB/TrEMBL
  ENSP00000480647 UniProtKB/TrEMBL
  ENSP00000486306 UniProtKB/TrEMBL
  ENSP00000486443 UniProtKB/TrEMBL
  ENSP00000486514 UniProtKB/TrEMBL
  ENSP00000486516 UniProtKB/Swiss-Prot
  ENSP00000486720 UniProtKB/Swiss-Prot
  ENSP00000487062 UniProtKB/TrEMBL
  ENSP00000487224 UniProtKB/Swiss-Prot
  ENSP00000487626 UniProtKB/TrEMBL
  ENSP00000493475 UniProtKB/TrEMBL
  ENSP00000493687 UniProtKB/TrEMBL
  ENSP00000493795 UniProtKB/TrEMBL
  ENSP00000493819 UniProtKB/TrEMBL
  ENSP00000493976 UniProtKB/TrEMBL
  ENSP00000493997 UniProtKB/TrEMBL
  ENSP00000494040 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000494518 UniProtKB/TrEMBL
  ENSP00000494588 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000494767 UniProtKB/TrEMBL
  ENSP00000494887 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000494905 UniProtKB/TrEMBL
  ENSP00000494952 UniProtKB/TrEMBL
  ENSP00000495264 UniProtKB/TrEMBL
  ENSP00000495377 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000496043 UniProtKB/TrEMBL
  ENSP00000496052 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000496076 UniProtKB/TrEMBL
  ENSP00000496222 UniProtKB/TrEMBL
  ENSP00000496257 UniProtKB/TrEMBL
  ENSP00000496356 UniProtKB/TrEMBL
  ENSP00000496524 UniProtKB/TrEMBL
  ENSP00000496663 UniProtKB/TrEMBL
Ensembl Transcript ENST00000399959 UniProtKB/TrEMBL
  ENST00000441189 UniProtKB/TrEMBL
  ENST00000457138 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000478993 UniProtKB/Swiss-Prot
  ENST00000542215 UniProtKB/TrEMBL
  ENST00000611968 UniProtKB/TrEMBL
  ENST00000615313 UniProtKB/TrEMBL
  ENST00000615742 UniProtKB/TrEMBL
  ENST00000616050 UniProtKB/TrEMBL
  ENST00000625837 UniProtKB/TrEMBL
  ENST00000626301 UniProtKB/TrEMBL
  ENST00000629496 UniProtKB/Swiss-Prot
  ENST00000629785 UniProtKB/Swiss-Prot
  ENST00000630255 UniProtKB/Swiss-Prot
  ENST00000630370 UniProtKB/TrEMBL
  ENST00000630858 UniProtKB/TrEMBL
  ENST00000642322 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000642424 UniProtKB/TrEMBL
  ENST00000642793 UniProtKB/TrEMBL
  ENST00000643821 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000643963 UniProtKB/TrEMBL
  ENST00000644073 UniProtKB/TrEMBL
  ENST00000644074 UniProtKB/TrEMBL
  ENST00000644109 UniProtKB/TrEMBL
  ENST00000644513 UniProtKB/TrEMBL
  ENST00000644677 UniProtKB/TrEMBL
  ENST00000644876 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000645080 UniProtKB/TrEMBL
  ENST00000645589 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000645783 UniProtKB/TrEMBL
  ENST00000646107 UniProtKB/TrEMBL
  ENST00000646122 UniProtKB/TrEMBL
  ENST00000646223 UniProtKB/TrEMBL
  ENST00000646319 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000646627 UniProtKB/TrEMBL
  ENST00000646679 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000647373 UniProtKB/TrEMBL
GTEx ENSG00000215301 GTEx
HGNC ID HGNC:2745 ENTREZGENE
Human Proteome Map DDX3X Human Proteome Map
InterPro DEAD/DEAH_box_helicase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_ATP-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA-helicase_DEAD-box_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_helicase_DEAD_Q_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1654 UniProtKB/Swiss-Prot
NCBI Gene 1654 ENTREZGENE
OMIM 300160 OMIM
  300958 OMIM
Pfam DEAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27216 PharmGKB
PROSITE DEAD_ATP_HELICASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICASE_ATP_BIND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICASE_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Q_MOTIF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DEXDc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WVZ1_HUMAN UniProtKB/TrEMBL
  A0A087WX09_HUMAN UniProtKB/TrEMBL
  A0A0D9SF53_HUMAN UniProtKB/TrEMBL
  A0A0D9SFB3_HUMAN UniProtKB/TrEMBL
  A0A0D9SG12_HUMAN UniProtKB/TrEMBL
  A0A0J9YVQ7_HUMAN UniProtKB/TrEMBL
  A0A2R8Y4A4_HUMAN UniProtKB/TrEMBL
  A0A2R8Y4D2_HUMAN UniProtKB/TrEMBL
  A0A2R8Y5G6_HUMAN UniProtKB/TrEMBL
  A0A2R8Y645_HUMAN UniProtKB/TrEMBL
  A0A2R8Y650_HUMAN UniProtKB/TrEMBL
  A0A2R8Y770_HUMAN UniProtKB/TrEMBL
  A0A2R8Y7T2_HUMAN UniProtKB/TrEMBL
  A0A2R8YCU0_HUMAN UniProtKB/TrEMBL
  A0A2R8YCW1_HUMAN UniProtKB/TrEMBL
  A0A2R8YDH3_HUMAN UniProtKB/TrEMBL
  A0A2R8YDT5_HUMAN UniProtKB/TrEMBL
  A0A2R8YF31_HUMAN UniProtKB/TrEMBL
  A0A2R8YF78_HUMAN UniProtKB/TrEMBL
  A0A2R8YF89_HUMAN UniProtKB/TrEMBL
  A0A2R8YFR4_HUMAN UniProtKB/TrEMBL
  A0A2R8YFS5_HUMAN UniProtKB/TrEMBL
  A0A2R8YGJ1_HUMAN UniProtKB/TrEMBL
  A0A2U3TZJ9_HUMAN UniProtKB/TrEMBL
  B5BTY4_HUMAN UniProtKB/TrEMBL
  DDX3X_HUMAN UniProtKB/Swiss-Prot
  F6S8Q4_HUMAN UniProtKB/TrEMBL
  O00571 ENTREZGENE
UniProt Secondary A8K538 UniProtKB/Swiss-Prot
  B4E3E8 UniProtKB/Swiss-Prot
  O15536 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 DDX3X  DEAD-box helicase 3 X-linked    DEAD-box helicase 3, X-linked  Symbol and/or name change 5135510 APPROVED
2016-01-12 DDX3X  DEAD-box helicase 3, X-linked    DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked  Symbol and/or name change 5135510 APPROVED
2013-07-23 DDX3X  DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked    DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked  Symbol and/or name change 5135510 APPROVED