BCLAF3 (BCLAF1 and THRAP3 family member 3) - Rat Genome Database

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Gene: BCLAF3 (BCLAF1 and THRAP3 family member 3) Homo sapiens
Analyze
Symbol: BCLAF3
Name: BCLAF1 and THRAP3 family member 3
RGD ID: 1348660
HGNC Page HGNC
Description: Predicted to have DNA binding activity and transcription coregulator activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to localize to mediator complex; INTERACTS WITH aflatoxin B1; aflatoxin B2; benzo[a]pyrene.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: chromosome X open reading frame 23; CXorf23; hypothetical protein LOC256643; uncharacterized protein CXorf23
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 EnsemblX19,912,860 - 19,970,298 (-)EnsemblGRCh38hg38GRCh38
GRCh38X19,912,860 - 19,991,040 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X19,930,978 - 19,988,382 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X19,844,039 - 19,898,303 (-)NCBINCBI36hg18NCBI36
Build 34X19,694,032 - 19,744,081NCBI
CeleraX24,055,008 - 24,111,271 (-)NCBI
Cytogenetic MapXp22.12NCBI
HuRefX17,676,894 - 17,734,223 (-)NCBIHuRef
CHM1_1X19,961,497 - 20,018,900 (-)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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:20360068   PMID:21873635   PMID:26496610  


Genomics

Comparative Map Data
BCLAF3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX19,912,860 - 19,970,298 (-)EnsemblGRCh38hg38GRCh38
GRCh38X19,912,860 - 19,991,040 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X19,930,978 - 19,988,382 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X19,844,039 - 19,898,303 (-)NCBINCBI36hg18NCBI36
Build 34X19,694,032 - 19,744,081NCBI
CeleraX24,055,008 - 24,111,271 (-)NCBI
Cytogenetic MapXp22.12NCBI
HuRefX17,676,894 - 17,734,223 (-)NCBIHuRef
CHM1_1X19,961,497 - 20,018,900 (-)NCBICHM1_1
Bclaf3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X158,315,639 - 158,376,077 (+)NCBIGRCm39mm39
GRCm39 EnsemblX158,309,684 - 158,376,077 (+)Ensembl
GRCm38X159,532,642 - 159,593,081 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX159,526,688 - 159,593,081 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X155,970,600 - 156,031,013 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X154,876,824 - 154,936,499 (+)NCBImm8
CeleraX142,778,765 - 142,838,393 (+)NCBICelera
Cytogenetic MapXF4NCBI
Bclaf3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X35,257,228 - 35,328,883 (-)NCBI
Rnor_6.0 EnsemblX38,295,365 - 38,353,461 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X38,294,009 - 38,353,525 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X38,603,666 - 38,662,435 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X56,464,425 - 56,528,474 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX35,924,185 - 35,966,239 (-)NCBICelera
Cytogenetic MapXq14NCBI
Bclaf3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955509381,959 - 417,347 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955509383,083 - 435,163 (-)NCBIChiLan1.0ChiLan1.0
BCLAF3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X19,899,762 - 19,969,576 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX19,899,762 - 19,949,483 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X12,537,084 - 12,609,183 (-)NCBIMhudiblu_PPA_v0panPan3
BCLAF3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X15,844,064 - 15,903,535 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX15,845,098 - 15,903,806 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X15,804,297 - 15,863,758 (-)NCBI
UMICH_Zoey_3.1X15,852,690 - 15,912,143 (-)NCBI
UNSW_CanFamBas_1.0X15,854,593 - 15,919,961 (-)NCBI
UU_Cfam_GSD_1.0X15,922,227 - 15,981,703 (-)NCBI
Bclaf3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X8,919,864 - 8,980,338 (-)NCBI
SpeTri2.0NW_0049366244,177,596 - 4,238,016 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BCLAF3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX16,252,414 - 16,312,439 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X16,252,407 - 16,312,426 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X17,516,127 - 17,576,125 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BCLAF3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X18,384,122 - 18,458,518 (-)NCBI
ChlSab1.1 EnsemblX18,382,527 - 18,437,138 (-)Ensembl
Vero_WHO_p1.0NW_02366605620,240,649 - 20,315,719 (-)NCBI
Bclaf3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248294,749,176 - 4,809,482 (-)NCBI

Position Markers
DXS1459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,950,177 - 19,950,341UniSTSGRCh37
Build 36X19,860,098 - 19,860,262RGDNCBI36
Cytogenetic MapXp22.12UniSTS
HuRefX17,696,096 - 17,696,259UniSTS
DXS6761  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,945,503 - 19,945,654UniSTSGRCh37
Build 36X19,855,424 - 19,855,575RGDNCBI36
CeleraX24,069,534 - 24,069,685RGD
Cytogenetic MapXp22.12UniSTS
HuRefX17,691,422 - 17,691,573UniSTS
STS-R68627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,934,422 - 19,934,567UniSTSGRCh37
Build 36X19,844,343 - 19,844,488RGDNCBI36
CeleraX24,058,306 - 24,058,451RGD
Cytogenetic MapXp22.12UniSTS
HuRefX17,680,338 - 17,680,483UniSTS
GeneMap99-GB4 RH MapX92.32UniSTS
L17809  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map9q34.13UniSTS
D11S2843  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp22.12UniSTS
L17877  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map9q21.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map17q25.3UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
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Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7927
Count of miRNA genes:1435
Interacting mature miRNAs:1891
Transcripts:ENST00000340625, ENST00000356980, ENST00000379682, ENST00000379687, ENST00000466702, ENST00000471203, ENST00000472158
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 27 64 29 5 101 6 412 15 531 28 164 62 17 369
Low 2405 2826 1688 612 1778 453 3942 2153 3176 390 1284 1546 170 1187 2419 4
Below cutoff 94 6 5 69 5 1 25 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_950427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_950429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK094661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL732366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL772197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000340625   ⟹   ENSP00000342104
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,928,981 - 19,965,142 (-)Ensembl
RefSeq Acc Id: ENST00000379682   ⟹   ENSP00000369004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,916,258 - 19,970,298 (-)Ensembl
RefSeq Acc Id: ENST00000379687   ⟹   ENSP00000369009
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,912,860 - 19,970,298 (-)Ensembl
RefSeq Acc Id: ENST00000451208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,913,149 - 19,916,164 (-)Ensembl
RefSeq Acc Id: ENST00000456553
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,914,163 - 19,915,035 (-)Ensembl
RefSeq Acc Id: ENST00000466702
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,916,740 - 19,929,898 (-)Ensembl
RefSeq Acc Id: ENST00000471203
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,917,171 - 19,935,576 (-)Ensembl
RefSeq Acc Id: ENST00000472158   ⟹   ENSP00000437272
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,916,255 - 19,965,295 (-)Ensembl
RefSeq Acc Id: NM_001367774   ⟹   NP_001354703
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,912,860 - 19,970,264 (-)NCBI
RefSeq Acc Id: NM_198279   ⟹   NP_938020
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,912,860 - 19,970,264 (-)NCBI
GRCh37X19,930,978 - 19,988,427 (-)NCBI
Build 36X19,844,039 - 19,898,303 (-)NCBI Archive
CeleraX24,055,008 - 24,111,271 (-)RGD
HuRefX17,676,894 - 17,734,223 (-)RGD
CHM1_1X19,961,497 - 20,018,900 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274473   ⟹   XP_005274530
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,912,860 - 19,988,501 (-)NCBI
GRCh37X19,930,978 - 19,988,427 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274474   ⟹   XP_005274531
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,912,860 - 19,988,501 (-)NCBI
GRCh37X19,930,978 - 19,988,427 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274475   ⟹   XP_005274532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,912,860 - 19,988,501 (-)NCBI
GRCh37X19,930,978 - 19,988,427 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545475   ⟹   XP_011543777
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,912,860 - 19,991,040 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545476   ⟹   XP_011543778
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,912,860 - 19,990,549 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545477   ⟹   XP_011543779
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,914,521 - 19,988,499 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545478   ⟹   XP_011543780
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,912,860 - 19,988,501 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545479   ⟹   XP_011543781
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,912,860 - 19,988,500 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545482   ⟹   XP_011543784
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,912,860 - 19,988,499 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029390   ⟹   XP_016884879
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,912,860 - 19,988,499 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029391   ⟹   XP_016884880
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,912,860 - 19,988,501 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029392   ⟹   XP_016884881
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,959,082 - 19,988,499 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755678
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,912,860 - 19,988,501 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755679
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,912,860 - 19,988,501 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755680
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,912,860 - 19,988,501 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755681
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,929,785 - 19,988,501 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002958771
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,929,801 - 19,988,501 (-)NCBI
Sequence:
RefSeq Acc Id: XR_950427
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,912,860 - 19,988,501 (-)NCBI
Sequence:
RefSeq Acc Id: XR_950429
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,929,801 - 19,988,501 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_938020   ⟸   NM_198279
- Peptide Label: isoform 1
- UniProtKB: A2AJT9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274531   ⟸   XM_005274474
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005274532   ⟸   XM_005274475
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_005274530   ⟸   XM_005274473
- Peptide Label: isoform X1
- UniProtKB: A2AJT9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011543779   ⟸   XM_011545477
- Peptide Label: isoform X3
- UniProtKB: A2AJT9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011543777   ⟸   XM_011545475
- Peptide Label: isoform X1
- UniProtKB: A2AJT9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011543778   ⟸   XM_011545476
- Peptide Label: isoform X1
- UniProtKB: A2AJT9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011543784   ⟸   XM_011545482
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011543781   ⟸   XM_011545479
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011543780   ⟸   XM_011545478
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016884880   ⟸   XM_017029391
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016884879   ⟸   XM_017029390
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016884881   ⟸   XM_017029392
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: NP_001354703   ⟸   NM_001367774
- Peptide Label: isoform 2
RefSeq Acc Id: ENSP00000369009   ⟸   ENST00000379687
RefSeq Acc Id: ENSP00000369004   ⟸   ENST00000379682
RefSeq Acc Id: ENSP00000437272   ⟸   ENST00000472158
RefSeq Acc Id: ENSP00000342104   ⟸   ENST00000340625

Promoters
RGD ID:6808594
Promoter ID:HG_KWN:66201
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:OTTHUMT00000055987,   UC004CZO.1,   UC010NFN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X19,893,666 - 19,894,166 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX: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: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)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: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: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: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: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 Xp22.12(chrX:19624798-20573750)x3 copy number gain See cases [RCV000052384] ChrX:19624798..20573750 [GRCh38]
ChrX:19642916..20591868 [GRCh37]
ChrX:19552837..20501789 [NCBI36]
ChrX:Xp22.12
pathogenic
GRCh38/hg38 Xp22.12(chrX:19878110-20395102)x3 copy number gain See cases [RCV000052385] ChrX:19878110..20395102 [GRCh38]
ChrX:19896228..20413220 [GRCh37]
ChrX:19806149..20323141 [NCBI36]
ChrX:Xp22.12
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:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX: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 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
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 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
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-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 Xp22.33-11.22(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_198279.3(CXorf23):c.383A>T (p.Asn128Ile) single nucleotide variant Malignant melanoma [RCV000073148] ChrX:19966308 [GRCh38]
ChrX:19984426 [GRCh37]
ChrX:19894347 [NCBI36]
ChrX:Xp22.12
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
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
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)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)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-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: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-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 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 Xp22.2-22.11(chrX:15173626-23952585)x2 copy number gain See cases [RCV000134875] ChrX:15173626..23952585 [GRCh38]
ChrX:15191748..23970702 [GRCh37]
ChrX:15101669..23880623 [NCBI36]
ChrX:Xp22.2-22.11
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 Xp22.33-11.22(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 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
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 Xp22.33-11.23(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-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 Xp22.2-21.2(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 Xp22.12(chrX:19970925-20240102)x2 copy number gain See cases [RCV000138669] ChrX:19970925..20240102 [GRCh38]
ChrX:19989043..20258220 [GRCh37]
ChrX:19898964..20168141 [NCBI36]
ChrX:Xp22.12
uncertain significance
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-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 Xp22.33-11.22(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-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 Xp22.33-11.22(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:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-21.1(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)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
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(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 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
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
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: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: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-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..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
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:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [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 Xp22.33-11.21(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:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.12(chrX:19855485-20154502)x3 copy number gain See cases [RCV000446019] ChrX:19855485..20154502 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(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:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-11.1(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 Xp22.33-11.21(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-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.12(chrX:19938254-20640014)x2 copy number gain See cases [RCV000511476] ChrX:19938254..20640014 [GRCh37]
ChrX:Xp22.12
conflicting data from submitters
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:168546-54996659)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 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
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
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 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.12(chrX:19561853-19949936)x3 copy number gain not provided [RCV000753416] ChrX:19561853..19949936 [GRCh37]
ChrX:Xp22.12
benign
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-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
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely 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
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
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-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849766] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849768] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:15330714-21915234)x2 copy number gain not provided [RCV000846517] ChrX:15330714..21915234 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.12(chrX:19665569-19942210)x3 copy number gain not provided [RCV000846563] ChrX:19665569..19942210 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh37/hg19 Xp22.12(chrX:19560561-19952212)x2 copy number gain not provided [RCV000846452] ChrX:19560561..19952212 [GRCh37]
ChrX:Xp22.12
uncertain significance
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 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp22.13-22.12(chrX:19258311-20193960)x2 copy number gain not provided [RCV000845973] ChrX:19258311..20193960 [GRCh37]
ChrX:Xp22.13-22.12
uncertain significance
GRCh37/hg19 Xp22.2-22.12(chrX:16194993-20640014)x2 copy number gain not provided [RCV001007268] ChrX:16194993..20640014 [GRCh37]
ChrX:Xp22.2-22.12
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
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
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
GRCh37/hg19 Xp22.13-22.12(chrX:19183657-20215858) copy number gain Unilateral renal agenesis [RCV001291960] ChrX:19183657..20215858 [GRCh37]
ChrX:Xp22.13-22.12
pathogenic
NC_000023.10:g.(?_17393881)_(20284750_?)dup duplication Early infantile epileptic encephalopathy 2 [RCV001345684] ChrX:17393881..20284750 [GRCh37]
ChrX:Xp22.13-22.12
uncertain significance
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:27413 AgrOrtholog
COSMIC BCLAF3 COSMIC
Ensembl Genes ENSG00000173681 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000342104 UniProtKB/TrEMBL
  ENSP00000369004 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000369009 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000437272 UniProtKB/TrEMBL
Ensembl Transcript ENST00000340625 UniProtKB/TrEMBL
  ENST00000379682 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000379687 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000472158 UniProtKB/TrEMBL
GTEx ENSG00000173681 GTEx
HGNC ID HGNC:27413 ENTREZGENE
Human Proteome Map BCLAF3 Human Proteome Map
InterPro THRAP3_BCLAF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:256643 UniProtKB/Swiss-Prot
NCBI Gene 256643 ENTREZGENE
PANTHER PTHR15268 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam THRAP3_BCLAF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134885371 PharmGKB
UniProt A2AJT9 ENTREZGENE, UniProtKB/Swiss-Prot
  F2Z385_HUMAN UniProtKB/TrEMBL
  H7BXX2_HUMAN UniProtKB/TrEMBL
UniProt Secondary A1A4E8 UniProtKB/Swiss-Prot
  Q5VSM7 UniProtKB/Swiss-Prot
  Q5VSN1 UniProtKB/Swiss-Prot
  Q6ZS60 UniProtKB/Swiss-Prot
  Q8N1W7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-06-13 BCLAF3  BCLAF1 and THRAP3 family member 3  CXorf23  chromosome X open reading frame 23  Symbol and/or name change 5135510 APPROVED