ZFX (zinc finger protein X-linked) - Rat Genome Database

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Gene: ZFX (zinc finger protein X-linked) Homo sapiens
Analyze
Symbol: ZFX
Name: zinc finger protein X-linked
RGD ID: 1344344
HGNC Page HGNC
Description: Predicted to have chromatin insulator sequence binding activity. Predicted to be involved in germ cell development and regulation of transcription by RNA polymerase II. Localizes to nucleolus and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: X-linked zinc finger protein; zinc finger protein, X-linked; zinc finger X-chromosomal protein; ZNF926
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX24,149,173 - 24,216,255 (+)EnsemblGRCh38hg38GRCh38
GRCh38X24,148,982 - 24,216,255 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X24,167,099 - 24,234,372 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X24,077,824 - 24,142,549 (+)NCBINCBI36hg18NCBI36
Build 34X23,929,464 - 23,989,474NCBI
CeleraX28,291,063 - 28,357,675 (+)NCBI
Cytogenetic MapXp22.11NCBI
HuRefX21,911,587 - 21,977,093 (+)NCBIHuRef
CHM1_1X24,199,109 - 24,265,719 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromosome  (IBA)
nucleolus  (IDA)
nucleoplasm  (IDA)
nucleus  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:2041734   PMID:2105457   PMID:2308929   PMID:2497060   PMID:2500252   PMID:2512506   PMID:9364438   PMID:11214319   PMID:12477932   PMID:14660691   PMID:15060604   PMID:15302935  
PMID:15342556   PMID:16344560   PMID:18029348   PMID:19274049   PMID:21873635   PMID:22009483   PMID:22185393   PMID:22357206   PMID:22879936   PMID:22955854   PMID:23322077   PMID:23461064  
PMID:23587796   PMID:23860324   PMID:23866268   PMID:24228108   PMID:24585547   PMID:24831540   PMID:25031734   PMID:25355536   PMID:25441684   PMID:25916205   PMID:26097576   PMID:26496610  
PMID:26540164   PMID:26823701   PMID:26876532   PMID:26912059   PMID:26967242   PMID:27365365   PMID:27775603   PMID:27797721   PMID:28156061   PMID:28229969   PMID:28514442   PMID:28611094  
PMID:28631575   PMID:29117863   PMID:29507755   PMID:29753316   PMID:29758928   PMID:30007968   PMID:30270106   PMID:30520073   PMID:30804502   PMID:31310241   PMID:31432109   PMID:32406922  
PMID:32694731  


Genomics

Comparative Map Data
ZFX
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX24,149,173 - 24,216,255 (+)EnsemblGRCh38hg38GRCh38
GRCh38X24,148,982 - 24,216,255 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X24,167,099 - 24,234,372 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X24,077,824 - 24,142,549 (+)NCBINCBI36hg18NCBI36
Build 34X23,929,464 - 23,989,474NCBI
CeleraX28,291,063 - 28,357,675 (+)NCBI
Cytogenetic MapXp22.11NCBI
HuRefX21,911,587 - 21,977,093 (+)NCBIHuRef
CHM1_1X24,199,109 - 24,265,719 (+)NCBICHM1_1
Zfx
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X93,118,237 - 93,194,250 (-)NCBIGRCm39mm39
GRCm39 EnsemblX93,118,237 - 93,167,308 (-)Ensembl
GRCm38X94,074,631 - 94,150,645 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX94,074,631 - 94,123,702 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X91,319,970 - 91,368,746 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X90,327,351 - 90,375,619 (-)NCBImm8
CeleraX80,975,763 - 81,039,081 (-)NCBICelera
Cytogenetic MapXC3NCBI
cM MapX41.48NCBI
Zfx
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X58,804,690 - 58,853,155 (-)NCBI
Rnor_6.0 EnsemblX63,158,976 - 63,204,530 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X63,158,368 - 63,204,971 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X63,749,779 - 63,797,636 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X81,430,210 - 81,477,028 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX59,240,896 - 59,287,404 (-)NCBICelera
Cytogenetic MapXq22NCBI
Zfx
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555094,505,235 - 4,571,513 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555094,545,468 - 4,571,513 (+)NCBIChiLan1.0ChiLan1.0
ZFX
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X24,118,870 - 24,183,804 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX24,118,956 - 24,183,804 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X16,745,872 - 16,813,486 (+)NCBIMhudiblu_PPA_v0panPan3
ZFX
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X19,722,172 - 19,793,059 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX19,760,045 - 19,790,196 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X19,654,055 - 19,750,307 (+)NCBI
UMICH_Zoey_3.1X19,692,562 - 19,787,144 (+)NCBI
UNSW_CanFamBas_1.0X19,726,301 - 19,820,841 (+)NCBI
UU_Cfam_GSD_1.0X19,782,461 - 19,877,301 (+)NCBI
Zfx
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X12,680,909 - 12,740,663 (+)NCBI
SpeTri2.0NW_004936624417,164 - 471,638 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZFX
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX20,220,853 - 20,275,185 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X20,220,812 - 20,273,689 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X21,713,386 - 21,749,342 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ZFX
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X22,626,683 - 22,630,119 (+)NCBI
Vero_WHO_p1.0NW_02366605624,506,189 - 24,574,127 (+)NCBI
Zfx
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624897503,741 - 550,027 (+)NCBI

Position Markers
RH98610  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X24,168,786 - 24,168,921UniSTSGRCh37
Build 36X24,078,707 - 24,078,842RGDNCBI36
CeleraX28,292,087 - 28,292,222RGD
Cytogenetic MapXp21.3UniSTS
HuRefX21,912,138 - 21,912,273UniSTS
GeneMap99-GB4 RH MapX100.43UniSTS
ZFX  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X24,229,515 - 24,229,817UniSTSGRCh37
Build 36X24,139,436 - 24,139,738RGDNCBI36
CeleraX28,352,818 - 28,353,120RGD
Cytogenetic MapXp21.3UniSTS
HuRefX21,972,236 - 21,972,538UniSTS
G42693  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X24,229,505 - 24,229,716UniSTSGRCh37
Build 36X24,139,426 - 24,139,637RGDNCBI36
CeleraX28,352,808 - 28,353,019RGD
Cytogenetic MapXp21.3UniSTS
HuRefX21,972,226 - 21,972,437UniSTS
GDB:216882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X24,229,515 - 24,229,817UniSTSGRCh37
Build 36X24,139,436 - 24,139,738RGDNCBI36
CeleraX28,352,818 - 28,353,120RGD
Cytogenetic MapXp21.3UniSTS
HuRefX21,972,236 - 21,972,538UniSTS
PMC24149P10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X24,234,364 - 24,234,563UniSTSGRCh37
Build 36X24,144,285 - 24,144,484RGDNCBI36
CeleraX28,357,667 - 28,357,866RGD
Cytogenetic MapXp21.3UniSTS
HuRefX21,977,085 - 21,977,284UniSTS
PMC24149P7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X24,166,605 - 24,166,883UniSTSGRCh37
Build 36X24,076,526 - 24,076,804RGDNCBI36
CeleraX28,289,906 - 28,290,184RGD
Cytogenetic MapXp21.3UniSTS
HuRefX21,910,430 - 21,910,708UniSTS
PMC24149P8  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X24,190,424 - 24,190,573UniSTSGRCh37
Build 36X24,100,345 - 24,100,494RGDNCBI36
CeleraX28,313,726 - 28,313,875RGD
Cytogenetic MapXp21.3UniSTS
HuRefX21,934,069 - 21,934,218UniSTS
PMC24149P9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X24,227,785 - 24,228,103UniSTSGRCh37
Build 36X24,137,706 - 24,138,024RGDNCBI36
CeleraX28,351,088 - 28,351,406RGD
Cytogenetic MapXp21.3UniSTS
HuRefX21,970,506 - 21,970,824UniSTS
ZFX_2118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X24,229,063 - 24,229,912UniSTSGRCh37
Build 36X24,138,984 - 24,139,833RGDNCBI36
CeleraX28,352,366 - 28,353,215RGD
HuRefX21,971,784 - 21,972,633UniSTS
DXS7788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X24,190,561 - 24,190,649UniSTSGRCh37
Build 36X24,100,482 - 24,100,570RGDNCBI36
CeleraX28,313,863 - 28,313,951RGD
Cytogenetic MapXp21.3UniSTS
HuRefX21,934,206 - 21,934,294UniSTS
G10526  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X24,230,952 - 24,231,334UniSTSGRCh37
Build 36X24,140,873 - 24,141,255RGDNCBI36
CeleraX28,354,255 - 28,354,637RGD
Cytogenetic MapXp21.3UniSTS
HuRefX21,973,673 - 21,974,055UniSTS
Fabian_Werner_1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X24,228,729 - 24,228,782UniSTSGRCh37
Build 36X24,138,650 - 24,138,703RGDNCBI36
CeleraX28,352,032 - 28,352,085RGD
HuRefX21,971,450 - 21,971,503UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR144hsa-miR-144-3pOncomiRDBexternal_infoNANA22955854

Predicted Target Of
Summary Value
Count of predictions:11029
Count of miRNA genes:1353
Interacting mature miRNAs:1732
Transcripts:ENST00000304543, ENST00000338565, ENST00000379177, ENST00000379188, ENST00000419690, ENST00000428571, ENST00000459724, ENST00000474385, ENST00000480195, ENST00000497813, ENST00000539115, ENST00000540034
Prediction methods:Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1073 752 653 107 854 88 1816 679 819 155 971 992 31 625 1139 2
Low 1366 2216 1073 517 1076 377 2540 1516 2915 264 489 621 144 1 579 1649 4 2
Below cutoff 23 21 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA873535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC002404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF022232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF026806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF045781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF454948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF454949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF454950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF505615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF505616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF505617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF505618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF505619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY012072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY072770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP311445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP374479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA847701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA848249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA995443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX404987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M26946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M30608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U00241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X59738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X59739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X59740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000304543   ⟹   ENSP00000304985
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,149,790 - 24,211,700 (+)Ensembl
RefSeq Acc Id: ENST00000338565   ⟹   ENSP00000343384
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,172,715 - 24,211,986 (+)Ensembl
RefSeq Acc Id: ENST00000379177   ⟹   ENSP00000368475
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,149,745 - 24,216,089 (+)Ensembl
RefSeq Acc Id: ENST00000379188   ⟹   ENSP00000368486
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,149,724 - 24,216,255 (+)Ensembl
RefSeq Acc Id: ENST00000419690   ⟹   ENSP00000416298
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,149,729 - 24,179,219 (+)Ensembl
RefSeq Acc Id: ENST00000428571   ⟹   ENSP00000411637
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,149,629 - 24,179,530 (+)Ensembl
RefSeq Acc Id: ENST00000459724
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,149,854 - 24,209,001 (+)Ensembl
RefSeq Acc Id: ENST00000474385
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,172,756 - 24,179,550 (+)Ensembl
RefSeq Acc Id: ENST00000480195
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,151,426 - 24,172,914 (+)Ensembl
RefSeq Acc Id: ENST00000497813
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,149,173 - 24,150,819 (+)Ensembl
RefSeq Acc Id: ENST00000539115   ⟹   ENSP00000438233
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX24,149,645 - 24,216,255 (+)Ensembl
RefSeq Acc Id: NM_001178084   ⟹   NP_001171555
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,149,729 - 24,216,255 (+)NCBI
GRCh37X24,167,047 - 24,234,372 (+)NCBI
HuRefX21,911,587 - 21,977,093 (+)ENTREZGENE
CHM1_1X24,199,188 - 24,265,719 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001178085   ⟹   NP_001171556
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,149,729 - 24,216,255 (+)NCBI
GRCh37X24,167,047 - 24,234,372 (+)NCBI
HuRefX21,911,587 - 21,977,093 (+)ENTREZGENE
CHM1_1X24,199,193 - 24,265,719 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001178086   ⟹   NP_001171557
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,149,729 - 24,216,255 (+)NCBI
GRCh37X24,167,047 - 24,234,372 (+)NCBI
HuRefX21,911,587 - 21,977,093 (+)ENTREZGENE
CHM1_1X24,199,109 - 24,265,719 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001178095   ⟹   NP_001171566
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,149,729 - 24,216,255 (+)NCBI
GRCh37X24,167,047 - 24,234,372 (+)NCBI
HuRefX21,911,587 - 21,977,093 (+)ENTREZGENE
CHM1_1X24,199,109 - 24,265,719 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330327   ⟹   NP_001317256
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,148,982 - 24,216,255 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003410   ⟹   NP_003401
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,149,729 - 24,216,255 (+)NCBI
GRCh37X24,167,047 - 24,234,372 (+)NCBI
Build 36X24,077,824 - 24,142,549 (+)NCBI Archive
HuRefX21,911,587 - 21,977,093 (+)ENTREZGENE
CHM1_1X24,199,201 - 24,265,719 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274591   ⟹   XP_005274648
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,149,461 - 24,216,089 (+)NCBI
GRCh37X24,167,047 - 24,234,372 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274592   ⟹   XP_005274649
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,148,994 - 24,216,089 (+)NCBI
GRCh37X24,167,047 - 24,234,372 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274594   ⟹   XP_005274651
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,177,267 - 24,216,089 (+)NCBI
GRCh37X24,167,047 - 24,234,372 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724513   ⟹   XP_006724576
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,149,459 - 24,216,089 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545579   ⟹   XP_011543881
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,151,138 - 24,216,089 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545581   ⟹   XP_011543883
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,149,047 - 24,216,089 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545583   ⟹   XP_011543885
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,176,566 - 24,216,089 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029788   ⟹   XP_016885277
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,151,560 - 24,216,089 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029789   ⟹   XP_016885278
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,150,551 - 24,216,089 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029790   ⟹   XP_016885279
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,149,459 - 24,216,089 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029791   ⟹   XP_016885280
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,149,459 - 24,216,089 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029792   ⟹   XP_016885281
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,149,038 - 24,216,089 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029793   ⟹   XP_016885282
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,160,563 - 24,216,089 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029794   ⟹   XP_016885283
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,150,004 - 24,216,089 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029795   ⟹   XP_016885284
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,160,563 - 24,216,089 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029796   ⟹   XP_016885285
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,161,794 - 24,216,089 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029797   ⟹   XP_016885286
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,149,461 - 24,216,089 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029798   ⟹   XP_016885287
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,149,461 - 24,216,089 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029799   ⟹   XP_016885288
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,148,994 - 24,216,089 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029800   ⟹   XP_016885289
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,149,460 - 24,216,089 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029801   ⟹   XP_016885290
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,190,305 - 24,216,089 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452440   ⟹   XP_024308208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,151,691 - 24,216,089 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001171555 (Get FASTA)   NCBI Sequence Viewer  
  NP_001171556 (Get FASTA)   NCBI Sequence Viewer  
  NP_001171557 (Get FASTA)   NCBI Sequence Viewer  
  NP_001171566 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317256 (Get FASTA)   NCBI Sequence Viewer  
  NP_003401 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274648 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274649 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274651 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724576 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543881 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543883 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543885 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885277 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885278 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885279 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885280 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885281 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885282 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885283 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885284 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885285 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885286 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885287 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885288 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885289 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885290 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308208 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA61309 (Get FASTA)   NCBI Sequence Viewer  
  AAC03062 (Get FASTA)   NCBI Sequence Viewer  
  AAG38815 (Get FASTA)   NCBI Sequence Viewer  
  AAI36309 (Get FASTA)   NCBI Sequence Viewer  
  AAI36310 (Get FASTA)   NCBI Sequence Viewer  
  AAL51082 (Get FASTA)   NCBI Sequence Viewer  
  AAL51083 (Get FASTA)   NCBI Sequence Viewer  
  AAL51084 (Get FASTA)   NCBI Sequence Viewer  
  AAL62492 (Get FASTA)   NCBI Sequence Viewer  
  AAL67136 (Get FASTA)   NCBI Sequence Viewer  
  AAM33383 (Get FASTA)   NCBI Sequence Viewer  
  AAM33384 (Get FASTA)   NCBI Sequence Viewer  
  AAM33385 (Get FASTA)   NCBI Sequence Viewer  
  AAM33386 (Get FASTA)   NCBI Sequence Viewer  
  AAM33387 (Get FASTA)   NCBI Sequence Viewer  
  BAD93129 (Get FASTA)   NCBI Sequence Viewer  
  CAA42416 (Get FASTA)   NCBI Sequence Viewer  
  CAA42417 (Get FASTA)   NCBI Sequence Viewer  
  CAA42418 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43214 (Get FASTA)   NCBI Sequence Viewer  
  EAW99013 (Get FASTA)   NCBI Sequence Viewer  
  EAW99014 (Get FASTA)   NCBI Sequence Viewer  
  EAW99015 (Get FASTA)   NCBI Sequence Viewer  
  EAW99016 (Get FASTA)   NCBI Sequence Viewer  
  P17010 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001171566   ⟸   NM_001178095
- Peptide Label: isoform 3
- UniProtKB: Q59EB9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171556   ⟸   NM_001178085
- Peptide Label: isoform 1
- UniProtKB: P17010 (UniProtKB/Swiss-Prot),   A0A024RC04 (UniProtKB/TrEMBL),   Q59EB9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003401   ⟸   NM_003410
- Peptide Label: isoform 1
- UniProtKB: P17010 (UniProtKB/Swiss-Prot),   A0A024RC04 (UniProtKB/TrEMBL),   Q8WXB7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171555   ⟸   NM_001178084
- Peptide Label: isoform 1
- UniProtKB: P17010 (UniProtKB/Swiss-Prot),   A0A024RC04 (UniProtKB/TrEMBL),   Q59EB9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171557   ⟸   NM_001178086
- Peptide Label: isoform 2
- UniProtKB: P17010 (UniProtKB/Swiss-Prot),   Q59EB9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274649   ⟸   XM_005274592
- Peptide Label: isoform X3
- UniProtKB: P17010 (UniProtKB/Swiss-Prot),   A0A024RC04 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274648   ⟸   XM_005274591
- Peptide Label: isoform X3
- UniProtKB: P17010 (UniProtKB/Swiss-Prot),   A0A024RC04 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274651   ⟸   XM_005274594
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_006724576   ⟸   XM_006724513
- Peptide Label: isoform X1
- UniProtKB: P17010 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011543883   ⟸   XM_011545581
- Peptide Label: isoform X3
- UniProtKB: P17010 (UniProtKB/Swiss-Prot),   A0A024RC04 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543881   ⟸   XM_011545579
- Peptide Label: isoform X3
- UniProtKB: P17010 (UniProtKB/Swiss-Prot),   A0A024RC04 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543885   ⟸   XM_011545583
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016885288   ⟸   XM_017029799
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016885281   ⟸   XM_017029792
- Peptide Label: isoform X1
- UniProtKB: P17010 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885280   ⟸   XM_017029791
- Peptide Label: isoform X1
- UniProtKB: P17010 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885279   ⟸   XM_017029790
- Peptide Label: isoform X1
- UniProtKB: P17010 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885289   ⟸   XM_017029800
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016885286   ⟸   XM_017029797
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016885287   ⟸   XM_017029798
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016885283   ⟸   XM_017029794
- Peptide Label: isoform X3
- UniProtKB: P17010 (UniProtKB/Swiss-Prot),   A0A024RC04 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885278   ⟸   XM_017029789
- Peptide Label: isoform X1
- UniProtKB: P17010 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885277   ⟸   XM_017029788
- Peptide Label: isoform X1
- UniProtKB: P17010 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885282   ⟸   XM_017029793
- Peptide Label: isoform X1
- UniProtKB: P17010 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885284   ⟸   XM_017029795
- Peptide Label: isoform X3
- UniProtKB: P17010 (UniProtKB/Swiss-Prot),   A0A024RC04 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885285   ⟸   XM_017029796
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016885290   ⟸   XM_017029801
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: NP_001317256   ⟸   NM_001330327
- Peptide Label: isoform 4
- UniProtKB: P17010 (UniProtKB/Swiss-Prot),   Q59EB9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308208   ⟸   XM_024452440
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000411637   ⟸   ENST00000428571
RefSeq Acc Id: ENSP00000343384   ⟸   ENST00000338565
RefSeq Acc Id: ENSP00000368475   ⟸   ENST00000379177
RefSeq Acc Id: ENSP00000368486   ⟸   ENST00000379188
RefSeq Acc Id: ENSP00000416298   ⟸   ENST00000419690
RefSeq Acc Id: ENSP00000438233   ⟸   ENST00000539115
RefSeq Acc Id: ENSP00000304985   ⟸   ENST00000304543
Protein Domains
C2H2-type   Zfx_Zfy_act

Promoters
RGD ID:6809419
Promoter ID:HG_KWN:66268
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid
Transcripts:NM_001178084,   NM_001178085,   NM_001178086,   NM_001178095,   NM_003410,   OTTHUMT00000056087,   OTTHUMT00000056090,   OTTHUMT00000056091,   OTTHUMT00000056092,   UC004DBD.1,   UC010NFX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X24,076,446 - 24,077,782 (+)MPROMDB
RGD ID:6808657
Promoter ID:HG_KWN:66270
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000313152,   ENST00000379188,   OTTHUMT00000056089
Position:
Human AssemblyChrPosition (strand)Source
Build 36X24,078,466 - 24,079,547 (+)MPROMDB
RGD ID:6808659
Promoter ID:HG_KWN:66271
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:ENST00000338565,   OTTHUMT00000056088,   UC010NFY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X24,100,129 - 24,100,629 (+)MPROMDB
RGD ID:13604946
Promoter ID:EPDNEW_H28657
Type:initiation region
Name:ZFX_1
Description:zinc finger protein, X-linked
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28656  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X24,149,729 - 24,149,789EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003410.3(ZFX):c.*4341G>T single nucleotide variant Lung cancer [RCV000102479] ChrX:24215717 [GRCh38]
ChrX:24233834 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 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:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.3(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 Xp22.11-11.4(chrX:22420237-38834728)x1 copy number loss See cases [RCV000053063] ChrX:22420237..38834728 [GRCh38]
ChrX:22438354..38693981 [GRCh37]
ChrX:22348275..38578925 [NCBI36]
ChrX:Xp22.11-11.4
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: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: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: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_003410.3(ZFX):c.1368C>T (p.Tyr456=) single nucleotide variant Malignant melanoma [RCV000073153] ChrX:24210326 [GRCh38]
ChrX:24228443 [GRCh37]
ChrX:24138364 [NCBI36]
ChrX:Xp22.11
not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(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:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(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 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 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 Xp22.31-11.22(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-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 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
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 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-11.22(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-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 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
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 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(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-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 Xp22.33-11.21(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 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [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 Xp22.11(chrX:23693142-24483640)x2 copy number gain See cases [RCV000240160] ChrX:23693142..24483640 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-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:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.11-21.3(chrX:24006637-25035452)x2 copy number gain See cases [RCV000240096] ChrX:24006637..25035452 [GRCh37]
ChrX:Xp22.11-21.3
uncertain significance
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:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
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 Xp22.33-11.3(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:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [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 Xp22.33-11.21(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:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2 copy number gain See cases [RCV000511443] ChrX:15290524..29747172 [GRCh37]
ChrX:Xp22.2-21.2
likely pathogenic
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
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.11-21.3(chrX:23371361-25493197)x3 copy number gain not provided [RCV000684291] ChrX:23371361..25493197 [GRCh37]
ChrX:Xp22.11-21.3
uncertain significance
GRCh37/hg19 Xp22.11(chrX:23373804-24332336)x2 copy number gain not provided [RCV000684292] ChrX:23373804..24332336 [GRCh37]
ChrX:Xp22.11
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 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
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
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
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
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_003410.4(ZFX):c.1587T>C (p.Ala529=) single nucleotide variant not provided [RCV000906050] ChrX:24210545 [GRCh38]
ChrX:24228662 [GRCh37]
ChrX:Xp22.11
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
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_003410.4(ZFX):c.192C>A (p.Ile64=) single nucleotide variant not provided [RCV000883480] ChrX:24179316 [GRCh38]
ChrX:24197433 [GRCh37]
ChrX:Xp22.11
benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.12-21.1(chrX:20925922-35511818)x1 copy number loss not provided [RCV000847678] ChrX:20925922..35511818 [GRCh37]
ChrX:Xp22.12-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.11(chrX:24205066-24424092)x2 copy number gain not provided [RCV001007276] ChrX:24205066..24424092 [GRCh37]
ChrX:Xp22.11
uncertain significance
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
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12869 AgrOrtholog
COSMIC ZFX COSMIC
Ensembl Genes ENSG00000005889 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000304985 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000343384 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000368475 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000368486 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000411637 UniProtKB/TrEMBL
  ENSP00000416298 UniProtKB/TrEMBL
  ENSP00000438233 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000304543 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000338565 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000379177 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000379188 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000419690 UniProtKB/TrEMBL
  ENST00000428571 UniProtKB/TrEMBL
  ENST00000539115 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000005889 GTEx
HGNC ID HGNC:12869 ENTREZGENE
Human Proteome Map ZFX Human Proteome Map
InterPro Transcrp_activ_Zfx/Zfy-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7543 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7543 ENTREZGENE
OMIM 314980 OMIM
Pfam zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zfx_Zfy_act UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37458 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RC04 ENTREZGENE, UniProtKB/TrEMBL
  B7ZKJ5_HUMAN UniProtKB/TrEMBL
  C9J682_HUMAN UniProtKB/TrEMBL
  C9JGU9_HUMAN UniProtKB/TrEMBL
  E9PEP7_HUMAN UniProtKB/TrEMBL
  L8E7U7_HUMAN UniProtKB/TrEMBL
  P17010 ENTREZGENE
  Q59EB9 ENTREZGENE, UniProtKB/TrEMBL
  Q8NHZ1_HUMAN UniProtKB/TrEMBL
  Q8NHZ2_HUMAN UniProtKB/TrEMBL
  Q8NHZ3_HUMAN UniProtKB/TrEMBL
  Q8NHZ4_HUMAN UniProtKB/TrEMBL
  Q8NHZ5_HUMAN UniProtKB/TrEMBL
  Q8WWU0_HUMAN UniProtKB/TrEMBL
  Q8WXB7 ENTREZGENE, UniProtKB/TrEMBL
  Q8WXB8_HUMAN UniProtKB/TrEMBL
  Q8WXB9_HUMAN UniProtKB/TrEMBL
  Q9BYX9_HUMAN UniProtKB/TrEMBL
  ZFX_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B9EG97 UniProtKB/Swiss-Prot
  O43668 UniProtKB/Swiss-Prot
  Q8WYJ8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 ZFX  zinc finger protein X-linked    zinc finger protein, X-linked  Symbol and/or name change 5135510 APPROVED