WNK3 (WNK lysine deficient protein kinase 3) - Rat Genome Database

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Gene: WNK3 (WNK lysine deficient protein kinase 3) Homo sapiens
Analyze
Symbol: WNK3
Name: WNK lysine deficient protein kinase 3
RGD ID: 1346670
HGNC Page HGNC
Description: Exhibits chloride channel inhibitor activity and protein serine/threonine kinase activity. Involved in several processes, including osmosensory signaling pathway; positive regulation of peptidyl-threonine phosphorylation; and regulation of ion transport. Localizes to cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ30437; FLJ42662; KIAA1566; PRKWNK3; protein kinase with no lysine 3; serine/threonine-protein kinase WNK3
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 EnsemblX54,192,823 - 54,358,642 (-)EnsemblGRCh38hg38GRCh38
GRCh38X54,192,823 - 54,358,695 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X54,219,256 - 54,384,479 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X54,239,580 - 54,401,163 (-)NCBINCBI36hg18NCBI36
Build 34X54,105,875 - 54,267,459NCBI
CeleraX58,050,484 - 58,215,673 (-)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX51,270,978 - 51,435,935 (-)NCBIHuRef
CHM1_1X54,209,950 - 54,375,102 (-)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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:7757816   PMID:10997877   PMID:11498583   PMID:11571656   PMID:14702039   PMID:15194194   PMID:15772651   PMID:16275913   PMID:16501604   PMID:17673510   PMID:17961084   PMID:17975670  
PMID:18498374   PMID:18701621   PMID:18768590   PMID:19470686   PMID:19636250   PMID:19913121   PMID:20094755   PMID:20525693   PMID:20628086   PMID:20819979   PMID:21613606   PMID:21813709  
PMID:21873635   PMID:22864523   PMID:23387299   PMID:23482566   PMID:23838290   PMID:24641320   PMID:24920754   PMID:26069258   PMID:26186194   PMID:27337956   PMID:27378340   PMID:27467688  
PMID:27782176   PMID:28514442   PMID:30021884   PMID:30253317   PMID:30258100   PMID:31073040   PMID:32296183   PMID:32314908  


Genomics

Comparative Map Data
WNK3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX54,192,823 - 54,358,642 (-)EnsemblGRCh38hg38GRCh38
GRCh38X54,192,823 - 54,358,695 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X54,219,256 - 54,384,479 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X54,239,580 - 54,401,163 (-)NCBINCBI36hg18NCBI36
Build 34X54,105,875 - 54,267,459NCBI
CeleraX58,050,484 - 58,215,673 (-)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX51,270,978 - 51,435,935 (-)NCBIHuRef
CHM1_1X54,209,950 - 54,375,102 (-)NCBICHM1_1
Wnk3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X149,951,774 - 150,103,190 (+)NCBIGRCm39mm39
GRCm39 EnsemblX149,981,074 - 150,103,148 (+)Ensembl
GRCm38X151,168,777 - 151,320,194 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX151,198,078 - 151,320,152 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X147,632,683 - 147,754,695 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X146,538,856 - 146,660,908 (+)NCBImm8
CeleraX133,089,421 - 133,204,703 (-)NCBICelera
Cytogenetic MapXF3NCBI
Wnk3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X20,156,260 - 20,299,252 (+)NCBI
Rnor_6.0 EnsemblX20,316,893 - 20,454,357 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X20,316,081 - 20,459,245 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X21,060,886 - 21,204,035 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X40,531,972 - 40,635,583 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX20,447,903 - 20,550,458 (+)NCBICelera
Cytogenetic MapXq12NCBI
Wnk3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554751,446,498 - 1,642,061 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554751,441,068 - 1,641,599 (-)NCBIChiLan1.0ChiLan1.0
WNK3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X54,629,583 - 54,789,185 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX54,629,583 - 54,789,185 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X46,391,870 - 46,555,232 (-)NCBIMhudiblu_PPA_v0panPan3
WNK3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X45,951,049 - 46,111,643 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX45,571,840 - 46,081,994 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX37,410,899 - 37,499,944 (-)NCBI
ROS_Cfam_1.0X46,278,707 - 46,332,213 (-)NCBI
UMICH_Zoey_3.1X45,770,039 - 45,930,806 (-)NCBI
UNSW_CanFamBas_1.0X46,220,590 - 46,381,230 (-)NCBI
UU_Cfam_GSD_1.0X46,287,717 - 46,448,493 (-)NCBI
Wnk3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X38,755,261 - 38,927,032 (-)NCBI
SpeTri2.0NW_0049367511,095,578 - 1,266,772 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WNK3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX46,920,350 - 47,096,022 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X46,923,587 - 47,096,265 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X52,773,667 - 52,939,547 (-)NCBISscrofa10.2Sscrofa10.2susScr3
WNK3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X50,320,585 - 50,452,911 (-)NCBI
ChlSab1.1 EnsemblX50,320,674 - 50,452,943 (-)Ensembl
Wnk3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249091,886,372 - 2,107,582 (-)NCBI

Position Markers
DXS1013E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,285,655 - 54,285,873UniSTSGRCh37
Build 36X54,302,380 - 54,302,598RGDNCBI36
CeleraX58,116,873 - 58,117,091RGD
Cytogenetic MapXp11.22UniSTS
HuRefX51,337,214 - 51,337,432UniSTS
Stanford-G3 RH MapX2344.0UniSTS
NCBI RH MapX286.0UniSTS
GeneMap99-G3 RH MapX1574.0UniSTS
RH98462  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,221,410 - 54,221,585UniSTSGRCh37
Build 36X54,238,135 - 54,238,310RGDNCBI36
CeleraX58,052,638 - 58,052,813RGD
Cytogenetic MapXp11.22UniSTS
HuRefX51,273,132 - 51,273,307UniSTS
RH26059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,224,296 - 54,224,526UniSTSGRCh37
Build 36X54,241,021 - 54,241,251RGDNCBI36
CeleraX58,055,524 - 58,055,754RGD
Cytogenetic MapXp11.22UniSTS
HuRefX51,276,018 - 51,276,248UniSTS
RH99195  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,219,255 - 54,219,443UniSTSGRCh37
Build 36X54,235,980 - 54,236,168RGDNCBI36
CeleraX58,050,483 - 58,050,671RGD
Cytogenetic MapXp11.22UniSTS
HuRefX51,270,977 - 51,271,165UniSTS
GeneMap99-GB4 RH MapX174.65UniSTS
DXS7567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,285,669 - 54,285,762UniSTSGRCh37
Build 36X54,302,394 - 54,302,487RGDNCBI36
CeleraX58,116,887 - 58,116,980RGD
Cytogenetic MapXp11.22UniSTS
HuRefX51,337,228 - 51,337,321UniSTS
SHGC-106582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,262,151 - 54,262,456UniSTSGRCh37
Build 36X54,278,876 - 54,279,181RGDNCBI36
CeleraX58,093,374 - 58,093,679RGD
Cytogenetic MapXp11.22UniSTS
HuRefX51,313,606 - 51,313,902UniSTS
TNG Radiation Hybrid MapX8615.0UniSTS
SHGC-144031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,345,891 - 54,346,087UniSTSGRCh37
Build 36X54,362,616 - 54,362,812RGDNCBI36
CeleraX58,177,116 - 58,177,312RGD
Cytogenetic MapXp11.22UniSTS
TNG Radiation Hybrid MapX8635.0UniSTS
X99131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,304,341 - 54,304,610UniSTSGRCh37
Build 36X54,321,066 - 54,321,335RGDNCBI36
CeleraX58,135,558 - 58,135,827RGD
Cytogenetic MapXp11.22UniSTS
HuRefX51,355,771 - 51,356,041UniSTS
DXS7533  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,289,420 - 54,289,547UniSTSGRCh37
Build 36X54,306,145 - 54,306,272RGDNCBI36
CeleraX58,120,637 - 58,120,764RGD
Cytogenetic MapXp11.22UniSTS
HuRefX51,340,841 - 51,340,968UniSTS
Whitehead-YAC Contig MapX UniSTS
SGC31719  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,222,888 - 54,223,013UniSTSGRCh37
Build 36X54,239,613 - 54,239,738RGDNCBI36
CeleraX58,054,116 - 58,054,241RGD
Cytogenetic MapXp11.22UniSTS
HuRefX51,274,610 - 51,274,735UniSTS
GeneMap99-GB4 RH MapX171.58UniSTS
Whitehead-RH MapX96.8UniSTS
STS-M78294  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,285,668 - 54,285,766UniSTSGRCh37
Build 36X54,302,393 - 54,302,491RGDNCBI36
CeleraX58,116,886 - 58,116,984RGD
Cytogenetic MapXp11.22UniSTS
HuRefX51,337,227 - 51,337,325UniSTS
GeneMap99-GB4 RH MapX172.04UniSTS
DXS8325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,386,050 - 54,386,300UniSTSGRCh37
Build 36X54,402,775 - 54,403,025RGDNCBI36
CeleraX58,217,285 - 58,217,535RGD
Cytogenetic MapXp11.22UniSTS
HuRefX51,437,550 - 51,437,800UniSTS
Whitehead-RH MapX97.7UniSTS
Whitehead-YAC Contig MapX UniSTS
D1S3688  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq13UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16q21UniSTS
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
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
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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

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR21hsa-miR-21-5pMirtarbaseexternal_infoMicroarrayFunctional MTI (Weak)21544242

Predicted Target Of
Summary Value
Count of predictions:4367
Count of miRNA genes:1065
Interacting mature miRNAs:1284
Transcripts:ENST00000354646, ENST00000375159, ENST00000375169, ENST00000458404
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 13 5 6 5 157 7 32 9 394 12
Low 1421 1601 1632 502 165 412 2113 748 3504 260 976 1140 96 1 421 1554 2 2
Below cutoff 902 1291 70 112 1537 40 2072 1428 192 119 65 408 73 783 1233 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001002838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB046786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ409088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY082340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY352048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R44257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z44479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z84469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000354646   ⟹   ENSP00000346667
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,192,825 - 54,358,005 (-)Ensembl
RefSeq Acc Id: ENST00000375159   ⟹   ENSP00000364301
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,198,324 - 54,333,673 (-)Ensembl
RefSeq Acc Id: ENST00000375169   ⟹   ENSP00000364312
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,192,823 - 54,358,005 (-)Ensembl
RefSeq Acc Id: ENST00000458404   ⟹   ENSP00000401816
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,333,178 - 54,358,642 (-)Ensembl
RefSeq Acc Id: ENST00000620763   ⟹   ENSP00000481888
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,198,324 - 54,333,673 (-)Ensembl
RefSeq Acc Id: NM_001002838   ⟹   NP_001002838
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,192,823 - 54,358,046 (-)NCBI
GRCh37X54,219,256 - 54,384,438 (-)ENTREZGENE
Build 36X54,239,580 - 54,401,163 (-)NCBI Archive
HuRefX51,270,978 - 51,435,935 (-)ENTREZGENE
CHM1_1X54,209,950 - 54,375,102 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020922   ⟹   NP_065973
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,192,823 - 54,358,046 (-)NCBI
GRCh37X54,219,256 - 54,384,438 (-)ENTREZGENE
Build 36X54,239,580 - 54,401,163 (-)NCBI Archive
HuRefX51,270,978 - 51,435,935 (-)ENTREZGENE
CHM1_1X54,209,950 - 54,375,102 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724593   ⟹   XP_006724656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,192,823 - 54,358,056 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530802   ⟹   XP_011529104
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,192,823 - 54,358,056 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029741   ⟹   XP_016885230
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,192,823 - 54,358,057 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029742   ⟹   XP_016885231
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,192,823 - 54,358,057 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029743   ⟹   XP_016885232
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,192,823 - 54,358,057 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029744   ⟹   XP_016885233
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,192,823 - 54,358,695 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029745   ⟹   XP_016885234
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,192,823 - 54,358,056 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001002838   ⟸   NM_001002838
- Peptide Label: isoform 2
- UniProtKB: Q9BYP7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_065973   ⟸   NM_020922
- Peptide Label: isoform 1
- UniProtKB: Q9BYP7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006724656   ⟸   XM_006724593
- Peptide Label: isoform X4
- UniProtKB: Q9BYP7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529104   ⟸   XM_011530802
- Peptide Label: isoform X3
- UniProtKB: Q9BYP7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885233   ⟸   XM_017029744
- Peptide Label: isoform X1
- UniProtKB: Q9BYP7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885232   ⟸   XM_017029743
- Peptide Label: isoform X1
- UniProtKB: Q9BYP7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885230   ⟸   XM_017029741
- Peptide Label: isoform X1
- UniProtKB: Q9BYP7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885231   ⟸   XM_017029742
- Peptide Label: isoform X1
- UniProtKB: Q9BYP7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885234   ⟸   XM_017029745
- Peptide Label: isoform X2
- UniProtKB: Q9BYP7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000481888   ⟸   ENST00000620763
RefSeq Acc Id: ENSP00000364301   ⟸   ENST00000375159
RefSeq Acc Id: ENSP00000364312   ⟸   ENST00000375169
RefSeq Acc Id: ENSP00000401816   ⟸   ENST00000458404
RefSeq Acc Id: ENSP00000346667   ⟸   ENST00000354646
Protein Domains
Protein kinase

Promoters
RGD ID:13605394
Promoter ID:EPDNEW_H28881
Type:multiple initiation site
Name:WNK3_4
Description:WNK lysine deficient protein kinase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28882  EPDNEW_H28883  EPDNEW_H28884  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,344,780 - 54,344,840EPDNEW
RGD ID:13605396
Promoter ID:EPDNEW_H28882
Type:initiation region
Name:WNK3_1
Description:WNK lysine deficient protein kinase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28881  EPDNEW_H28883  EPDNEW_H28884  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,358,046 - 54,358,106EPDNEW
RGD ID:13605398
Promoter ID:EPDNEW_H28883
Type:multiple initiation site
Name:WNK3_2
Description:WNK lysine deficient protein kinase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28881  EPDNEW_H28882  EPDNEW_H28884  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,359,182 - 54,359,242EPDNEW
RGD ID:6809412
Promoter ID:HG_KWN:66963
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:ENST00000358751,   NM_020922,   OTTHUMT00000056798
Position:
Human AssemblyChrPosition (strand)Source
Build 36X54,401,711 - 54,402,211 (-)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:10679-156013167)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-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 Xp11.22-11.21(chrX:51664377-58055036)x3 copy number gain See cases [RCV000052392] ChrX:51664377..58055036 [GRCh38]
ChrX:51407309..58081470 [GRCh37]
ChrX:51424049..58098195 [NCBI36]
ChrX:Xp11.22-11.21
pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2 copy number gain See cases [RCV000052393] ChrX:52363196..58455952 [GRCh38]
ChrX:52175778..58482385 [GRCh37]
ChrX:52123054..58499110 [NCBI36]
ChrX:Xp11.22-11.1
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-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(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-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(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 Xp22.33-11.1(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 Xp22.33-11.21(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
NM_020922.4(WNK3):c.4128A>G (p.Ala1376=) single nucleotide variant Malignant melanoma [RCV000073222] ChrX:54237438 [GRCh38]
ChrX:54263871 [GRCh37]
ChrX:54280596 [NCBI36]
ChrX:Xp11.22
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-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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-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: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 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 Xp11.22-11.21(chrX:53764152-58014767)x2 copy number gain See cases [RCV000135877] ChrX:53764152..58014767 [GRCh38]
ChrX:53790650..58041201 [GRCh37]
ChrX:53807375..58057926 [NCBI36]
ChrX:Xp11.22-11.21
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xp22.33-11.21(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 Xp11.22-q11.1(chrX:53750365-63089185)x2 copy number gain See cases [RCV000137412] ChrX:53750365..63089185 [GRCh38]
ChrX:53776863..62203737 [GRCh37]
ChrX:53793588..62225380 [NCBI36]
ChrX:Xp11.22-q11.1
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-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-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 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 Xp11.22-11.1(chrX:51654792-58469500)x1 copy number loss See cases [RCV000142036] ChrX:51654792..58469500 [GRCh38]
ChrX:51397726..58495933 [GRCh37]
ChrX:51414466..58512658 [NCBI36]
ChrX:Xp11.22-11.1
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3 copy number gain See cases [RCV000142756] ChrX:52809123..65305544 [GRCh38]
ChrX:52838147..64525424 [GRCh37]
ChrX:52854872..64442149 [NCBI36]
ChrX:Xp11.22-q11.2
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 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)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-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2 copy number gain See cases [RCV000239889] ChrX:53085607..67176333 [GRCh37]
ChrX:Xp11.22-q12
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 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xp11.22-11.21(chrX:53220822-58066465)x3 copy number gain See cases [RCV000240407] ChrX:53220822..58066465 [GRCh37]
ChrX:Xp11.22-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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: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:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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
NM_020922.4(WNK3):c.4267A>C (p.Ser1423Arg) single nucleotide variant not provided [RCV000425408] ChrX:54237299 [GRCh38]
ChrX:54263732 [GRCh37]
ChrX:Xp11.22
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 Xp11.22(chrX:53797930-54608609)x3 copy number gain See cases [RCV000448260] ChrX:53797930..54608609 [GRCh37]
ChrX:Xp11.22
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 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 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(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 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 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:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_020922.4(WNK3):c.4331C>A (p.Ala1444Asp) single nucleotide variant not provided [RCV000584908] ChrX:54237235 [GRCh38]
ChrX:54263668 [GRCh37]
ChrX:Xp11.22
uncertain significance
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 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
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
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 duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_020922.4(WNK3):c.1521G>T (p.Arg507Ser) single nucleotide variant not provided [RCV000904930] ChrX:54294725 [GRCh38]
ChrX:54321158 [GRCh37]
ChrX:Xp11.22
likely benign
NM_020922.4(WNK3):c.3652-54TTTGT[6] microsatellite not provided [RCV000884924] ChrX:54239109..54239123 [GRCh38]
ChrX:54265542..54265556 [GRCh37]
ChrX:Xp11.22
benign
NM_020922.4(WNK3):c.1590C>T (p.Pro530=) single nucleotide variant not provided [RCV000900573] ChrX:54294656 [GRCh38]
ChrX:54321089 [GRCh37]
ChrX:Xp11.22
benign
NM_020922.4(WNK3):c.2837T>C (p.Ile946Thr) single nucleotide variant not provided [RCV000884228] ChrX:54249511 [GRCh38]
ChrX:54275944 [GRCh37]
ChrX:Xp11.22
benign
NM_020922.4(WNK3):c.2112A>T (p.Gln704His) single nucleotide variant not provided [RCV000882848] ChrX:54255878 [GRCh38]
ChrX:54282311 [GRCh37]
ChrX:Xp11.22
benign
NM_020922.4(WNK3):c.3652-54TTTGT[7] microsatellite not provided [RCV000966812] ChrX:54239109..54239118 [GRCh38]
ChrX:54265542..54265551 [GRCh37]
ChrX:Xp11.22
benign
NM_020922.4(WNK3):c.3652-54TTTGT[10] microsatellite not provided [RCV000950879] ChrX:54239108..54239109 [GRCh38]
ChrX:54265541..54265542 [GRCh37]
ChrX:Xp11.22
benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_020922.4(WNK3):c.4227T>C (p.Asn1409=) single nucleotide variant not provided [RCV000980875] ChrX:54237339 [GRCh38]
ChrX:54263772 [GRCh37]
ChrX:Xp11.22
likely benign
NM_020922.4(WNK3):c.2157A>G (p.Pro719=) single nucleotide variant not provided [RCV000882847] ChrX:54255833 [GRCh38]
ChrX:54282266 [GRCh37]
ChrX:Xp11.22
benign
NM_020922.4(WNK3):c.4015-9A>G single nucleotide variant not provided [RCV000926065] ChrX:54237560 [GRCh38]
ChrX:54263993 [GRCh37]
ChrX:Xp11.22
likely 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
NM_020922.4(WNK3):c.2739A>G (p.Glu913=) single nucleotide variant not provided [RCV000958806] ChrX:54249609 [GRCh38]
ChrX:54276042 [GRCh37]
ChrX:Xp11.22
benign
GRCh37/hg19 Xp11.22(chrX:54113305-54246572)x2 copy number gain not provided [RCV000846671] ChrX:54113305..54246572 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_020922.4(WNK3):c.2699G>A (p.Arg900Gln) single nucleotide variant not provided [RCV000995923] ChrX:54250008 [GRCh38]
ChrX:54276441 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_020922.4(WNK3):c.3522A>G (p.Gln1174=) single nucleotide variant not provided [RCV000917441] ChrX:54248826 [GRCh38]
ChrX:54275259 [GRCh37]
ChrX:Xp11.22
likely benign
NM_020922.4(WNK3):c.3652-54TTTGT[11] microsatellite not provided [RCV000954327] ChrX:54239108..54239109 [GRCh38]
ChrX:54265541..54265542 [GRCh37]
ChrX:Xp11.22
benign
NM_020922.4(WNK3):c.2169C>A (p.Gly723=) single nucleotide variant not provided [RCV000963539] ChrX:54255821 [GRCh38]
ChrX:54282254 [GRCh37]
ChrX:Xp11.22
benign
NM_020922.4(WNK3):c.1239G>A (p.Val413=) single nucleotide variant not provided [RCV000980047] ChrX:54298334 [GRCh38]
ChrX:54324767 [GRCh37]
ChrX:Xp11.22
benign
NM_020922.4(WNK3):c.3652-54TTTGT[12] microsatellite not provided [RCV000901435] ChrX:54239108..54239109 [GRCh38]
ChrX:54265541..54265542 [GRCh37]
ChrX:Xp11.22
benign
NM_020922.4(WNK3):c.219A>G (p.Glu73=) single nucleotide variant not provided [RCV000919723] ChrX:54333455 [GRCh38]
ChrX:54359888 [GRCh37]
ChrX:Xp11.22
likely benign
NM_020922.4(WNK3):c.4501G>A (p.Glu1501Lys) single nucleotide variant not provided [RCV000910385] ChrX:54237065 [GRCh38]
ChrX:54263498 [GRCh37]
ChrX:Xp11.22
likely benign
NM_020922.4(WNK3):c.2688G>T (p.Ala896=) single nucleotide variant not provided [RCV000929452] ChrX:54250019 [GRCh38]
ChrX:54276452 [GRCh37]
ChrX:Xp11.22
likely benign
NM_020922.4(WNK3):c.4015-4T>C single nucleotide variant not provided [RCV000891184] ChrX:54237555 [GRCh38]
ChrX:54263988 [GRCh37]
ChrX:Xp11.22
likely benign
NM_020922.4(WNK3):c.5373T>C (p.Asn1791=) single nucleotide variant not provided [RCV000935281] ChrX:54198354 [GRCh38]
ChrX:54224787 [GRCh37]
ChrX:Xp11.22
likely benign
NM_020922.4(WNK3):c.4239C>G (p.Pro1413=) single nucleotide variant not provided [RCV000891072] ChrX:54237327 [GRCh38]
ChrX:54263760 [GRCh37]
ChrX:Xp11.22
benign
NM_020922.4(WNK3):c.3461C>T (p.Ser1154Phe) single nucleotide variant not provided [RCV001092788] ChrX:54248887 [GRCh38]
ChrX:54275320 [GRCh37]
ChrX:Xp11.22
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:14543 AgrOrtholog
COSMIC WNK3 COSMIC
Ensembl Genes ENSG00000196632 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000346667 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000364301 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000364312 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000401816 UniProtKB/TrEMBL
  ENSP00000481888 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000354646 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000375159 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000375169 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000458404 UniProtKB/TrEMBL
  ENST00000620763 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000196632 GTEx
HGNC ID HGNC:14543 ENTREZGENE
Human Proteome Map WNK3 Human Proteome Map
InterPro Kinase-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase_OSR1/WNK_CCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:65267 UniProtKB/Swiss-Prot
NCBI Gene 65267 ENTREZGENE
OMIM 300358 OMIM
Pfam OSR1_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33784 PharmGKB
PROSITE PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Kinase_like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WYK2_HUMAN UniProtKB/TrEMBL
  B1AQN8_HUMAN UniProtKB/TrEMBL
  Q9BYP7 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B1AKG2 UniProtKB/Swiss-Prot
  Q5JRC1 UniProtKB/Swiss-Prot
  Q6JP76 UniProtKB/Swiss-Prot
  Q8TCX6 UniProtKB/Swiss-Prot
  Q9HCK6 UniProtKB/Swiss-Prot