PAK3 (p21 (RAC1) activated kinase 3) - Rat Genome Database
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Gene: PAK3 (p21 (RAC1) activated kinase 3) Homo sapiens
Analyze
Symbol: PAK3
Name: p21 (RAC1) activated kinase 3
RGD ID: 731864
HGNC Page HGNC
Description: Exhibits MAP kinase kinase activity. Involved in regulation of actin filament polymerization. Predicted to localize to cytosol and plasma membrane. Implicated in non-syndromic X-linked intellectual disability 30.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: adriamycin resistance-associated; ARA; beta-PAK; bPAK; CDKN1A; hPAK3; mental retardation, X-linked 47; MRX30; MRX47; oligophrenin-3; OPHN3; p21 (CDKN1A)-activated kinase 3; p21 protein (Cdc42/Rac)-activated kinase 3; p21-activated kinase 3; PAK-3; PAK3beta; serine/threonine-protein kinase PAK 3
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 EnsemblX110,944,285 - 111,227,361 (+)EnsemblGRCh38hg38GRCh38
GRCh38X110,944,324 - 111,227,361 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X110,187,625 - 110,470,589 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X110,226,256 - 110,350,816 (+)NCBINCBI36hg18NCBI36
Build 34X110,145,744 - 110,270,305NCBI
CeleraX110,667,132 - 110,943,790 (+)NCBI
Cytogenetic MapXq23NCBI
HuRefX99,807,691 - 100,086,683 (+)NCBIHuRef
CHM1_1X110,098,813 - 110,382,089 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IEA)
cytosol  (TAS)
endosome  (IEA,ISO)
glutamatergic synapse  (IEA,ISO)
plasma membrane  (TAS)
postsynaptic density  (IEA,ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe syndactyly  (IAGP)
Aggressive behavior  (IAGP)
Agitation  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autistic behavior  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Broad nasal tip  (IAGP)
Clinodactyly of the 2nd toe  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed gross motor development  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Downslanted palpebral fissures  (IAGP)
Drooling  (IAGP)
Facial palsy  (IAGP)
Flat face  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Global developmental delay  (IAGP)
High palate  (IAGP)
Hyperactivity  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Long palpebral fissure  (IAGP)
Long philtrum  (IAGP)
Macrocephaly  (IAGP)
Macrotia  (IAGP)
Meckel diverticulum  (IAGP)
Microcephaly  (IAGP)
Midface retrusion  (IAGP)
Mild neurosensory hearing impairment  (IAGP)
Moderate sensorineural hearing impairment  (IAGP)
Obesity  (IAGP)
Open mouth  (IAGP)
Periorbital fullness  (IAGP)
Pes planus  (IAGP)
Poor speech  (IAGP)
Psychosis  (IAGP)
Pyloric stenosis  (IAGP)
Restlessness  (IAGP)
Seizure  (IAGP)
Short attention span  (IAGP)
Short nose  (IAGP)
Shortening of all distal phalanges of the fingers  (IAGP)
Small for gestational age  (IAGP)
Thick lower lip vermilion  (IAGP)
Thin upper lip vermilion  (IAGP)
Urinary incontinence  (IAGP)
Variable expressivity  (IAGP)
Widened subarachnoid space  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:7559638   PMID:8107774   PMID:8619474   PMID:8687195   PMID:8826460   PMID:9065412   PMID:9110174   PMID:9234708   PMID:9332663   PMID:9659915   PMID:9722579   PMID:9726964  
PMID:9731525   PMID:9823899   PMID:10075701   PMID:10205168   PMID:10461188   PMID:10896954   PMID:10946356   PMID:11096073   PMID:11157984   PMID:11259591   PMID:11278486   PMID:11278553  
PMID:11478794   PMID:11517222   PMID:11733498   PMID:11741931   PMID:11862216   PMID:12237306   PMID:12464619   PMID:12477932   PMID:12777533   PMID:12884430   PMID:12890786   PMID:14530271  
PMID:14673471   PMID:14702039   PMID:15099969   PMID:15548136   PMID:15574732   PMID:15772651   PMID:15824104   PMID:16344560   PMID:17452356   PMID:17853471   PMID:18082144   PMID:18507705  
PMID:18523455   PMID:18541383   PMID:18586681   PMID:18639460   PMID:18805672   PMID:19036346   PMID:20936779   PMID:20960100   PMID:21115725   PMID:21177870   PMID:21873635   PMID:21949127  
PMID:23622267   PMID:23818969   PMID:24184505   PMID:25109462   PMID:25301945   PMID:25596744   PMID:25659154   PMID:25666757   PMID:25981171   PMID:27474226   PMID:27753653   PMID:28481730  
PMID:28514442   PMID:28611215   PMID:29169729   PMID:30858169   PMID:31051214   PMID:31410926   PMID:31678216   PMID:31897927   PMID:32050918   PMID:32296183  


Genomics

Comparative Map Data
PAK3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX110,944,285 - 111,227,361 (+)EnsemblGRCh38hg38GRCh38
GRCh38X110,944,324 - 111,227,361 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X110,187,625 - 110,470,589 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X110,226,256 - 110,350,816 (+)NCBINCBI36hg18NCBI36
Build 34X110,145,744 - 110,270,305NCBI
CeleraX110,667,132 - 110,943,790 (+)NCBI
Cytogenetic MapXq23NCBI
HuRefX99,807,691 - 100,086,683 (+)NCBIHuRef
CHM1_1X110,098,813 - 110,382,089 (+)NCBICHM1_1
Pak3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X142,301,370 - 142,580,792 (+)NCBIGRCm39mm39
GRCm39 EnsemblX142,301,587 - 142,580,792 (+)Ensembl
GRCm38X143,518,366 - 143,797,796 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX143,518,591 - 143,797,796 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X140,127,830 - 140,226,347 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X138,912,113 - 139,038,179 (+)NCBImm8
CeleraX127,648,772 - 127,747,962 (+)NCBICelera
Cytogenetic MapXF2NCBI
Pak3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X107,116,308 - 107,374,342 (+)NCBI
Rnor_6.0 EnsemblX114,929,029 - 115,036,669 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X114,784,452 - 115,042,683 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X113,227,320 - 113,495,881 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X34,734,814 - 34,842,093 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X34,788,282 - 34,895,562 (-)NCBI
CeleraX106,660,352 - 106,767,478 (+)NCBICelera
Cytogenetic MapXq33NCBI
Pak3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554904,545,457 - 4,662,862 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554904,538,933 - 4,833,851 (-)NCBIChiLan1.0ChiLan1.0
PAK3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X110,672,659 - 110,804,815 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX110,672,664 - 110,797,992 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X100,060,647 - 100,345,491 (+)NCBIMhudiblu_PPA_v0panPan3
PAK3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 EnsemblX84,074,001 - 84,329,951 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1X84,074,146 - 84,335,699 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Pak3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049364994,079,127 - 4,328,580 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PAK3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX90,942,232 - 91,239,440 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X90,941,976 - 91,244,331 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PAK3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X98,743,525 - 99,031,056 (+)NCBI
ChlSab1.1 EnsemblX98,911,447 - 99,027,769 (+)Ensembl
Pak3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248034,386,035 - 4,700,450 (-)NCBI

Position Markers
DXS7481  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X110,367,929 - 110,368,202UniSTSGRCh37
Build 36X110,254,585 - 110,254,858RGDNCBI36
CeleraX110,847,543 - 110,847,817RGD
Cytogenetic MapXq23UniSTS
HuRefX99,990,571 - 99,990,845UniSTS
Whitehead-YAC Contig MapX UniSTS
AL031080  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X110,449,958 - 110,450,099UniSTSGRCh37
Build 36X110,336,614 - 110,336,755RGDNCBI36
CeleraX110,929,575 - 110,929,716RGD
Cytogenetic MapXq23UniSTS
HuRefX100,072,485 - 100,072,626UniSTS
DXS7037E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X110,369,092 - 110,369,292UniSTSGRCh37
Build 36X110,255,748 - 110,255,948RGDNCBI36
CeleraX110,848,707 - 110,848,907RGD
Cytogenetic MapXq23UniSTS
HuRefX99,991,735 - 99,991,935UniSTS
AL032605  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X110,374,798 - 110,374,938UniSTSGRCh37
Build 36X110,261,454 - 110,261,594RGDNCBI36
CeleraX110,854,413 - 110,854,553RGD
Cytogenetic MapXq23UniSTS
HuRefX99,997,362 - 99,997,502UniSTS
DXS6944E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X110,245,044 - 110,245,145UniSTSGRCh37
Build 36X110,131,700 - 110,131,801RGDNCBI36
CeleraX110,724,678 - 110,724,779RGD
Cytogenetic MapXq23UniSTS
U39738  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X110,463,756 - 110,463,949UniSTSGRCh37
Build 36X110,350,412 - 110,350,605RGDNCBI36
CeleraX110,943,373 - 110,943,566RGD
HuRefX100,086,266 - 100,086,459UniSTS
G66773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X110,444,499 - 110,444,774UniSTSGRCh37
Build 36X110,331,155 - 110,331,430RGDNCBI36
CeleraX110,924,116 - 110,924,391RGD
Cytogenetic MapXq23UniSTS
HuRefX100,067,001 - 100,067,276UniSTS
RH66644  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X110,398,211 - 110,398,371UniSTSGRCh37
Build 36X110,284,867 - 110,285,027RGDNCBI36
CeleraX110,877,827 - 110,877,987RGD
Cytogenetic MapXq23UniSTS
HuRefX100,020,566 - 100,020,726UniSTS
GeneMap99-GB4 RH MapX287.52UniSTS
NCBI RH MapX561.2UniSTS
PAK3_2323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X110,463,622 - 110,464,339UniSTSGRCh37
Build 36X110,350,278 - 110,350,995RGDNCBI36
CeleraX110,943,239 - 110,943,955RGD
HuRefX100,086,132 - 100,086,848UniSTS
AFM317wb9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X110,229,780 - 110,230,041UniSTSGRCh37
Build 36X110,116,436 - 110,116,697RGDNCBI36
CeleraX110,709,406 - 110,709,669RGD
Cytogenetic MapXq23UniSTS
Whitehead-RH MapX268.2UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX561.2UniSTS
SHGC-32136  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X110,370,523 - 110,370,671UniSTSGRCh37
Build 36X110,257,179 - 110,257,327RGDNCBI36
CeleraX110,850,138 - 110,850,286RGD
Cytogenetic MapXq23UniSTS
HuRefX99,993,166 - 99,993,314UniSTS
GeneMap99-G3 RH MapX3821.0UniSTS
DXS8346  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X110,362,621 - 110,362,821UniSTSGRCh37
Build 36X110,249,277 - 110,249,477RGDNCBI36
CeleraX110,842,235 - 110,842,435RGD
Cytogenetic MapXq23UniSTS
HuRefX99,985,262 - 99,985,462UniSTS
Whitehead-RH MapX267.4UniSTS
Whitehead-YAC Contig MapX UniSTS
DCX  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X110,463,869 - 110,464,066UniSTSGRCh37
CeleraX110,943,486 - 110,943,683UniSTS
HuRefX100,086,379 - 100,086,576UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4989
Count of miRNA genes:1211
Interacting mature miRNAs:1565
Transcripts:ENST00000262836, ENST00000360648, ENST00000372007, ENST00000372010, ENST00000417227, ENST00000425146, ENST00000429193, ENST00000446737, ENST00000484442, ENST00000487802, ENST00000518291, ENST00000519681
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 7 677 3 1 3 412 2 1645 6 8 424 411
Low 1519 1328 535 187 336 42 2889 674 1916 128 1245 803 149 1 925 1556 3 1
Below cutoff 840 1537 444 366 1087 352 1041 1503 170 230 155 357 23 279 821 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB074169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF068864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF070581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF155651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI298548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL357774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM943850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM943851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM943852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ268758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA022842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA957724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB053586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB563607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF491800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF491818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF681781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF681782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262836   ⟹   ENSP00000262836
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,123,077 - 111,220,918 (+)Ensembl
RefSeq Acc Id: ENST00000360648   ⟹   ENSP00000353864
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,123,077 - 111,220,918 (+)Ensembl
RefSeq Acc Id: ENST00000372007   ⟹   ENSP00000361077
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,096,191 - 111,227,361 (+)Ensembl
RefSeq Acc Id: ENST00000372010   ⟹   ENSP00000361080
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,096,360 - 111,220,931 (+)Ensembl
RefSeq Acc Id: ENST00000417227   ⟹   ENSP00000389172
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,123,077 - 111,220,918 (+)Ensembl
RefSeq Acc Id: ENST00000425146   ⟹   ENSP00000401982
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX110,944,285 - 111,220,918 (+)Ensembl
RefSeq Acc Id: ENST00000429193   ⟹   ENSP00000405642
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,123,076 - 111,152,416 (+)Ensembl
RefSeq Acc Id: ENST00000446737   ⟹   ENSP00000410853
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX110,944,285 - 111,220,918 (+)Ensembl
RefSeq Acc Id: ENST00000484442
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,096,325 - 111,098,786 (+)Ensembl
RefSeq Acc Id: ENST00000487802
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,142,143 - 111,152,762 (+)Ensembl
RefSeq Acc Id: ENST00000518291   ⟹   ENSP00000428921
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,097,387 - 111,220,447 (+)Ensembl
RefSeq Acc Id: ENST00000519681   ⟹   ENSP00000429113
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,096,360 - 111,220,945 (+)Ensembl
RefSeq Acc Id: ENST00000620137   ⟹   ENSP00000484798
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX111,123,104 - 111,220,945 (+)Ensembl
RefSeq Acc Id: NM_001128166   ⟹   NP_001121638
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,944,397 - 111,227,361 (+)NCBI
GRCh37X110,187,513 - 110,470,590 (+)NCBI
HuRefX99,807,691 - 100,086,683 (+)ENTREZGENE
CHM1_1X110,098,813 - 110,382,089 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001128167   ⟹   NP_001121639
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,944,397 - 111,227,361 (+)NCBI
GRCh37X110,187,513 - 110,470,590 (+)NCBI
HuRefX99,807,691 - 100,086,683 (+)ENTREZGENE
CHM1_1X110,098,813 - 110,382,089 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001128168   ⟹   NP_001121640
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,191 - 111,227,361 (+)NCBI
GRCh37X110,187,513 - 110,470,590 (+)NCBI
HuRefX99,807,691 - 100,086,683 (+)ENTREZGENE
CHM1_1X110,250,894 - 110,382,089 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001128172   ⟹   NP_001121644
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,123,077 - 111,227,361 (+)NCBI
GRCh37X110,187,513 - 110,470,590 (+)NCBI
HuRefX99,807,691 - 100,086,683 (+)ENTREZGENE
CHM1_1X110,277,805 - 110,382,089 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001128173   ⟹   NP_001121645
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,191 - 111,227,361 (+)NCBI
GRCh37X110,187,513 - 110,470,590 (+)NCBI
HuRefX99,807,691 - 100,086,683 (+)ENTREZGENE
CHM1_1X110,250,894 - 110,382,089 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324325   ⟹   NP_001311254
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,944,397 - 111,227,361 (+)NCBI
CHM1_1X110,098,813 - 110,382,089 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324326   ⟹   NP_001311255
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,191 - 111,227,361 (+)NCBI
CHM1_1X110,250,894 - 110,382,089 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324327   ⟹   NP_001311256
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,191 - 111,227,361 (+)NCBI
CHM1_1X110,250,894 - 110,382,089 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324328   ⟹   NP_001311257
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,191 - 111,227,361 (+)NCBI
CHM1_1X110,250,894 - 110,382,089 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324329   ⟹   NP_001311258
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,191 - 111,227,361 (+)NCBI
CHM1_1X110,250,894 - 110,382,089 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324330   ⟹   NP_001311259
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,944,397 - 111,227,361 (+)NCBI
CHM1_1X110,098,813 - 110,382,089 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324331   ⟹   NP_001311260
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,191 - 111,227,361 (+)NCBI
CHM1_1X110,250,894 - 110,382,089 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324332   ⟹   NP_001311261
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,191 - 111,227,361 (+)NCBI
CHM1_1X110,250,894 - 110,382,089 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324333   ⟹   NP_001311262
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,191 - 111,227,361 (+)NCBI
CHM1_1X110,250,894 - 110,382,089 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324334   ⟹   NP_001311263
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,191 - 111,227,361 (+)NCBI
CHM1_1X110,250,894 - 110,382,089 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002578   ⟹   NP_002569
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,191 - 111,227,361 (+)NCBI
GRCh37X110,187,513 - 110,470,590 (+)NCBI
Build 36X110,226,256 - 110,350,816 (+)NCBI Archive
HuRefX99,807,691 - 100,086,683 (+)ENTREZGENE
CHM1_1X110,250,894 - 110,382,089 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136740
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,191 - 111,129,203 (+)NCBI
CHM1_1X110,250,894 - 110,283,934 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136741
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,191 - 111,129,203 (+)NCBI
CHM1_1X110,250,894 - 110,283,934 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136742
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,191 - 111,129,203 (+)NCBI
CHM1_1X110,250,894 - 110,283,934 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136743
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,191 - 111,129,203 (+)NCBI
CHM1_1X110,250,894 - 110,283,934 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136744
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,191 - 111,129,203 (+)NCBI
CHM1_1X110,250,894 - 110,283,934 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136745
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,191 - 111,129,203 (+)NCBI
CHM1_1X110,250,894 - 110,283,934 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136746
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,191 - 111,129,203 (+)NCBI
CHM1_1X110,250,894 - 110,283,934 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136747
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,191 - 111,227,361 (+)NCBI
CHM1_1X110,250,894 - 110,382,089 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136748
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,103,159 - 111,227,361 (+)NCBI
CHM1_1X110,257,905 - 110,382,089 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005262132   ⟹   XP_005262189
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,147 - 111,217,494 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005262133   ⟹   XP_005262190
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,147 - 111,217,494 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724654   ⟹   XP_006724717
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,152 - 111,217,494 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724655   ⟹   XP_006724718
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,142 - 111,217,494 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530962   ⟹   XP_011529264
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,152 - 111,217,494 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530967   ⟹   XP_011529269
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,142 - 111,217,494 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530968   ⟹   XP_011529270
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,944,339 - 111,217,494 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530969   ⟹   XP_011529271
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,944,324 - 111,217,494 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530971   ⟹   XP_011529273
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,147 - 111,184,406 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029557   ⟹   XP_016885046
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,944,324 - 111,227,361 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029558   ⟹   XP_016885047
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,152 - 111,217,494 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029559   ⟹   XP_016885048
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,944,324 - 111,217,494 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029560   ⟹   XP_016885049
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,142 - 111,217,494 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029561   ⟹   XP_016885050
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X110,944,345 - 111,227,361 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029562   ⟹   XP_016885051
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,147 - 111,217,631 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029563   ⟹   XP_016885052
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,147 - 111,227,361 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001121638 (Get FASTA)   NCBI Sequence Viewer  
  NP_001121639 (Get FASTA)   NCBI Sequence Viewer  
  NP_001121640 (Get FASTA)   NCBI Sequence Viewer  
  NP_001121644 (Get FASTA)   NCBI Sequence Viewer  
  NP_001121645 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311254 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311255 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311256 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311257 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311258 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311259 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311260 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311261 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311262 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311263 (Get FASTA)   NCBI Sequence Viewer  
  NP_002569 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262189 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262190 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724717 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724718 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529264 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529269 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529270 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529271 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529273 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885046 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885047 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885048 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885049 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885050 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885051 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885052 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC36097 (Get FASTA)   NCBI Sequence Viewer  
  AAF67008 (Get FASTA)   NCBI Sequence Viewer  
  BAC80720 (Get FASTA)   NCBI Sequence Viewer  
  BAC80721 (Get FASTA)   NCBI Sequence Viewer  
  BAC80722 (Get FASTA)   NCBI Sequence Viewer  
  BAC80723 (Get FASTA)   NCBI Sequence Viewer  
  BAC80724 (Get FASTA)   NCBI Sequence Viewer  
  BAC80725 (Get FASTA)   NCBI Sequence Viewer  
  BAC80726 (Get FASTA)   NCBI Sequence Viewer  
  BAC80727 (Get FASTA)   NCBI Sequence Viewer  
  BAC80728 (Get FASTA)   NCBI Sequence Viewer  
  BAC80729 (Get FASTA)   NCBI Sequence Viewer  
  BAC80730 (Get FASTA)   NCBI Sequence Viewer  
  BAC80731 (Get FASTA)   NCBI Sequence Viewer  
  BAC80732 (Get FASTA)   NCBI Sequence Viewer  
  BAC80733 (Get FASTA)   NCBI Sequence Viewer  
  BAC80734 (Get FASTA)   NCBI Sequence Viewer  
  BAC80735 (Get FASTA)   NCBI Sequence Viewer  
  BAC80736 (Get FASTA)   NCBI Sequence Viewer  
  BAC80737 (Get FASTA)   NCBI Sequence Viewer  
  BAC80738 (Get FASTA)   NCBI Sequence Viewer  
  BAC80739 (Get FASTA)   NCBI Sequence Viewer  
  BAC80750 (Get FASTA)   NCBI Sequence Viewer  
  BAC80751 (Get FASTA)   NCBI Sequence Viewer  
  BAC80752 (Get FASTA)   NCBI Sequence Viewer  
  BAC80753 (Get FASTA)   NCBI Sequence Viewer  
  BAC80754 (Get FASTA)   NCBI Sequence Viewer  
  BAC80755 (Get FASTA)   NCBI Sequence Viewer  
  BAC80756 (Get FASTA)   NCBI Sequence Viewer  
  BAC80757 (Get FASTA)   NCBI Sequence Viewer  
  BAC80758 (Get FASTA)   NCBI Sequence Viewer  
  BAC80759 (Get FASTA)   NCBI Sequence Viewer  
  BAC80760 (Get FASTA)   NCBI Sequence Viewer  
  BAC80761 (Get FASTA)   NCBI Sequence Viewer  
  BAC80762 (Get FASTA)   NCBI Sequence Viewer  
  BAC80763 (Get FASTA)   NCBI Sequence Viewer  
  BAC80764 (Get FASTA)   NCBI Sequence Viewer  
  BAC80765 (Get FASTA)   NCBI Sequence Viewer  
  BAC80766 (Get FASTA)   NCBI Sequence Viewer  
  BAC80767 (Get FASTA)   NCBI Sequence Viewer  
  BAC80768 (Get FASTA)   NCBI Sequence Viewer  
  BAC80769 (Get FASTA)   NCBI Sequence Viewer  
  BAC80780 (Get FASTA)   NCBI Sequence Viewer  
  BAC80781 (Get FASTA)   NCBI Sequence Viewer  
  BAC80782 (Get FASTA)   NCBI Sequence Viewer  
  BAC80783 (Get FASTA)   NCBI Sequence Viewer  
  BAC80784 (Get FASTA)   NCBI Sequence Viewer  
  BAC80785 (Get FASTA)   NCBI Sequence Viewer  
  BAC80786 (Get FASTA)   NCBI Sequence Viewer  
  BAC80787 (Get FASTA)   NCBI Sequence Viewer  
  BAC80788 (Get FASTA)   NCBI Sequence Viewer  
  BAC80789 (Get FASTA)   NCBI Sequence Viewer  
  BAC80790 (Get FASTA)   NCBI Sequence Viewer  
  BAC80791 (Get FASTA)   NCBI Sequence Viewer  
  BAC80792 (Get FASTA)   NCBI Sequence Viewer  
  BAC80793 (Get FASTA)   NCBI Sequence Viewer  
  BAC80794 (Get FASTA)   NCBI Sequence Viewer  
  BAC80795 (Get FASTA)   NCBI Sequence Viewer  
  BAC80796 (Get FASTA)   NCBI Sequence Viewer  
  BAC80797 (Get FASTA)   NCBI Sequence Viewer  
  BAC80798 (Get FASTA)   NCBI Sequence Viewer  
  BAC80799 (Get FASTA)   NCBI Sequence Viewer  
  BAC81128 (Get FASTA)   NCBI Sequence Viewer  
  BAF83193 (Get FASTA)   NCBI Sequence Viewer  
  BAG37693 (Get FASTA)   NCBI Sequence Viewer  
  CAQ16016 (Get FASTA)   NCBI Sequence Viewer  
  CAQ16017 (Get FASTA)   NCBI Sequence Viewer  
  CAQ16018 (Get FASTA)   NCBI Sequence Viewer  
  EAX02653 (Get FASTA)   NCBI Sequence Viewer  
  EAX02654 (Get FASTA)   NCBI Sequence Viewer  
  O75914 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001121638   ⟸   NM_001128166
- Peptide Label: isoform a
- UniProtKB: O75914 (UniProtKB/Swiss-Prot),   B2RCU6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001121639   ⟸   NM_001128167
- Peptide Label: isoform a
- UniProtKB: O75914 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002569   ⟸   NM_002578
- Peptide Label: isoform a
- UniProtKB: O75914 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001121640   ⟸   NM_001128168
- Peptide Label: isoform b
- UniProtKB: O75914 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001121644   ⟸   NM_001128172
- Peptide Label: isoform c
- UniProtKB: O75914 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001121645   ⟸   NM_001128173
- Peptide Label: isoform d
- UniProtKB: O75914 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262189   ⟸   XM_005262132
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005262190   ⟸   XM_005262133
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006724718   ⟸   XM_006724655
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006724717   ⟸   XM_006724654
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011529271   ⟸   XM_011530969
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011529270   ⟸   XM_011530968
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011529269   ⟸   XM_011530967
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011529273   ⟸   XM_011530971
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011529264   ⟸   XM_011530962
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001311254   ⟸   NM_001324325
- Peptide Label: isoform a
- UniProtKB: O75914 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001311259   ⟸   NM_001324330
- Peptide Label: isoform a
- UniProtKB: O75914 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001311261   ⟸   NM_001324332
- Peptide Label: isoform a
- UniProtKB: O75914 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001311258   ⟸   NM_001324329
- Peptide Label: isoform d
- UniProtKB: O75914 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001311256   ⟸   NM_001324327
- Peptide Label: isoform d
- UniProtKB: O75914 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001311260   ⟸   NM_001324331
- Peptide Label: isoform a
- UniProtKB: O75914 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001311262   ⟸   NM_001324333
- Peptide Label: isoform d
- UniProtKB: O75914 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001311263   ⟸   NM_001324334
- Peptide Label: isoform a
- UniProtKB: O75914 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001311257   ⟸   NM_001324328
- Peptide Label: isoform d
- UniProtKB: O75914 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001311255   ⟸   NM_001324326
- Peptide Label: isoform a
- UniProtKB: O75914 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885046   ⟸   XM_017029557
- Peptide Label: isoform X2
- UniProtKB: O75914 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885048   ⟸   XM_017029559
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016885050   ⟸   XM_017029561
- Peptide Label: isoform X4
- UniProtKB: O75914 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885049   ⟸   XM_017029560
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016885052   ⟸   XM_017029563
- Peptide Label: isoform X7
- UniProtKB: O75914 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885051   ⟸   XM_017029562
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016885047   ⟸   XM_017029558
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000484798   ⟸   ENST00000620137
RefSeq Acc Id: ENSP00000401982   ⟸   ENST00000425146
RefSeq Acc Id: ENSP00000361077   ⟸   ENST00000372007
RefSeq Acc Id: ENSP00000361080   ⟸   ENST00000372010
RefSeq Acc Id: ENSP00000428921   ⟸   ENST00000518291
RefSeq Acc Id: ENSP00000429113   ⟸   ENST00000519681
RefSeq Acc Id: ENSP00000353864   ⟸   ENST00000360648
RefSeq Acc Id: ENSP00000405642   ⟸   ENST00000429193
RefSeq Acc Id: ENSP00000389172   ⟸   ENST00000417227
RefSeq Acc Id: ENSP00000410853   ⟸   ENST00000446737
RefSeq Acc Id: ENSP00000262836   ⟸   ENST00000262836
Protein Domains
CRIB   Protein kinase

Promoters
RGD ID:6809105
Promoter ID:HG_KWN:67762
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000262836,   ENST00000360648,   ENST00000372010,   NM_002578,   OTTHUMT00000057920
Position:
Human AssemblyChrPosition (strand)Source
Build 36X110,225,991 - 110,226,491 (+)MPROMDB
RGD ID:13627874
Promoter ID:EPDNEW_H29211
Type:initiation region
Name:PAK3_1
Description:p21 activated kinase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29212  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,191 - 111,096,251EPDNEW
RGD ID:13627872
Promoter ID:EPDNEW_H29212
Type:initiation region
Name:PAK3_2
Description:p21 activated kinase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29211  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X111,096,309 - 111,096,369EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002578.5(PAK3):c.1255C>T (p.Arg419Ter) single nucleotide variant Mental retardation 30, X-linked [RCV000012324]|not provided [RCV000656321] ChrX:111196488 [GRCh38]
ChrX:110439716 [GRCh37]
ChrX:Xq23
pathogenic
NM_002578.5(PAK3):c.199C>T (p.Arg67Cys) single nucleotide variant Mental retardation 30, X-linked [RCV000012325] ChrX:111142119 [GRCh38]
ChrX:110385347 [GRCh37]
ChrX:Xq23
pathogenic
NM_002578.5(PAK3):c.1094C>A (p.Ala365Glu) single nucleotide variant Mental retardation 30, X-linked [RCV000012326] ChrX:111194402 [GRCh38]
ChrX:110437630 [GRCh37]
ChrX:Xq23
pathogenic
NM_002578.5(PAK3):c.1337G>C (p.Trp446Ser) single nucleotide variant Mental retardation 30, X-linked [RCV000012327] ChrX:111196570 [GRCh38]
ChrX:110439798 [GRCh37]
ChrX:Xq23
pathogenic
NM_002578.5(PAK3):c.276+4A>G single nucleotide variant Intellectual disability [RCV001257660]|Mental retardation 30, X-linked [RCV000012328] ChrX:111142200 [GRCh38]
ChrX:110385428 [GRCh37]
ChrX:Xq23
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
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 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
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-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq23(chrX:110874013-111175998)x3 copy number gain See cases [RCV000054231] ChrX:110874013..111175998 [GRCh38]
ChrX:110117241..110419226 [GRCh37]
ChrX:110003897..110305882 [NCBI36]
ChrX:Xq23
uncertain significance
NM_001128166.1(PAK3):c.-101+3605A>G single nucleotide variant Lung cancer [RCV000102172] ChrX:110948233 [GRCh38]
ChrX:110191461 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001128166.1(PAK3):c.-100-15554A>T single nucleotide variant Lung cancer [RCV000102173] ChrX:110998274 [GRCh38]
ChrX:110241502 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001128166.1(PAK3):c.-28+44149G>T single nucleotide variant Lung cancer [RCV000102174] ChrX:111058049 [GRCh38]
ChrX:110301277 [GRCh37]
ChrX:Xq23
uncertain significance
NM_001128166.1(PAK3):c.-27-30645C>A single nucleotide variant Lung cancer [RCV000102175] ChrX:111092432 [GRCh38]
ChrX:110335660 [GRCh37]
ChrX:Xq23
uncertain significance
NM_002578.5(PAK3):c.1185C>T (p.Leu395=) single nucleotide variant History of neurodevelopmental disorder [RCV000717604]|Mental retardation 30, X-linked [RCV001169825]|not provided [RCV000966117]|not specified [RCV000117890] ChrX:111195916 [GRCh38]
ChrX:110439144 [GRCh37]
ChrX:Xq23
benign|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
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 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
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 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23
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 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
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 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23(chrX:110450492-111001421)x2 copy number gain See cases [RCV000137308] ChrX:110450492..111001421 [GRCh38]
ChrX:109693720..110244649 [GRCh37]
ChrX:109580376..110131305 [NCBI36]
ChrX:Xq23
uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
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 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
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 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23
pathogenic
GRCh38/hg38 Xq23(chrX:110359806-111260954)x3 copy number gain See cases [RCV000140082] ChrX:110359806..111260954 [GRCh38]
ChrX:109603034..110504182 [GRCh37]
ChrX:109489690..110390838 [NCBI36]
ChrX:Xq23
uncertain significance
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 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq23(chrX:110132832-111177628)x3 copy number gain See cases [RCV000141767] ChrX:110132832..111177628 [GRCh38]
ChrX:109376060..110420856 [GRCh37]
ChrX:109262716..110307512 [NCBI36]
ChrX:Xq23
uncertain significance
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 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
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 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
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 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
NM_002578.5(PAK3):c.601-10G>T single nucleotide variant not specified [RCV000153639] ChrX:111163552 [GRCh38]
ChrX:110406780 [GRCh37]
ChrX:Xq23
benign
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
NM_002578.5(PAK3):c.101C>T (p.Pro34Leu) single nucleotide variant not provided [RCV000178869] ChrX:111123204 [GRCh38]
ChrX:110366432 [GRCh37]
ChrX:Xq23
uncertain significance
NM_002578.5(PAK3):c.531G>A (p.Glu177=) single nucleotide variant History of neurodevelopmental disorder [RCV000717172]|Mental retardation 30, X-linked [RCV000362663]|not provided [RCV000710168]|not specified [RCV000195153] ChrX:111162977 [GRCh38]
ChrX:110406205 [GRCh37]
ChrX:Xq23
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
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 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_002578.5(PAK3):c.780T>C (p.Ser260=) single nucleotide variant History of neurodevelopmental disorder [RCV000716729] ChrX:111173031 [GRCh38]
ChrX:110416259 [GRCh37]
ChrX:Xq23
likely benign
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [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 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_002578.5(PAK3):c.601-3dup duplication Non-syndromic X-linked intellectual disability [RCV000270374] ChrX:111163552..111163553 [GRCh38]
ChrX:110406780..110406781 [GRCh37]
ChrX:Xq23
uncertain significance
NM_002578.5(PAK3):c.-15T>C single nucleotide variant Mental retardation 30, X-linked [RCV000359136] ChrX:111123089 [GRCh38]
ChrX:110366317 [GRCh37]
ChrX:Xq23
benign|likely benign
NM_002578.5(PAK3):c.*83C>T single nucleotide variant Mental retardation 30, X-linked [RCV000273385] ChrX:111220530 [GRCh38]
ChrX:110463758 [GRCh37]
ChrX:Xq23
uncertain significance
NM_002578.5(PAK3):c.786G>A (p.Gly262=) single nucleotide variant not provided [RCV000345281] ChrX:111173037 [GRCh38]
ChrX:110416265 [GRCh37]
ChrX:Xq23
uncertain significance
NM_002578.5(PAK3):c.665C>A (p.Pro222Gln) single nucleotide variant Mental retardation 30, X-linked [RCV000327728] ChrX:111163626 [GRCh38]
ChrX:110406854 [GRCh37]
ChrX:Xq23
benign|uncertain significance
NM_002578.5(PAK3):c.*452del deletion Non-syndromic X-linked intellectual disability [RCV000330766] ChrX:111220890 [GRCh38]
ChrX:110464118 [GRCh37]
ChrX:Xq23
uncertain significance
NM_002578.5(PAK3):c.1518G>A (p.Arg506=) single nucleotide variant Mental retardation 30, X-linked [RCV000384629]|not provided [RCV000896223] ChrX:111216531 [GRCh38]
ChrX:110459759 [GRCh37]
ChrX:Xq23
benign|likely benign
NM_002578.5(PAK3):c.483A>G (p.Ala161=) single nucleotide variant Mental retardation 30, X-linked [RCV000266619]|not provided [RCV000488411] ChrX:111162929 [GRCh38]
ChrX:110406157 [GRCh37]
ChrX:Xq23
benign|likely benign
NM_002578.5(PAK3):c.492T>A (p.Pro164=) single nucleotide variant Mental retardation 30, X-linked [RCV000305378] ChrX:111162938 [GRCh38]
ChrX:110406166 [GRCh37]
ChrX:Xq23
uncertain significance
NM_002578.5(PAK3):c.554A>C (p.Asn185Thr) single nucleotide variant not provided [RCV000489603] ChrX:111163000 [GRCh38]
ChrX:110406228 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_002578.5(PAK3):c.*515del deletion Non-syndromic X-linked intellectual disability [RCV000406868] ChrX:111220946 [GRCh38]
ChrX:110464174 [GRCh37]
ChrX:Xq23
benign
NM_002578.5(PAK3):c.534_536AGA[4] (p.Glu182del) microsatellite Mental retardation 30, X-linked [RCV000625953] ChrX:111162978..111162980 [GRCh38]
ChrX:110406206..110406208 [GRCh37]
ChrX:Xq23
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_002578.5(PAK3):c.1403T>G (p.Leu468Arg) single nucleotide variant not provided [RCV000656290] ChrX:111196636 [GRCh38]
ChrX:110439864 [GRCh37]
ChrX:Xq23
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xq22.3-23(chrX:107370001-110989043)x1 copy number loss See cases [RCV000447004] ChrX:107370001..110989043 [GRCh37]
ChrX:Xq22.3-23
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_002578.5(PAK3):c.298C>T (p.Arg100Ter) single nucleotide variant Mental retardation 30, X-linked [RCV000505239] ChrX:111147758 [GRCh38]
ChrX:110390986 [GRCh37]
ChrX:Xq23
likely pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_002578.5(PAK3):c.1064C>A (p.Thr355Lys) single nucleotide variant not provided [RCV000432791] ChrX:111194372 [GRCh38]
ChrX:110437600 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
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 Xq22.2-23(chrX:103158718-111556067)x2 copy number gain See cases [RCV000448592] ChrX:103158718..111556067 [GRCh37]
ChrX:Xq22.2-23
pathogenic
NM_002578.5(PAK3):c.767-12_767-9del microsatellite not specified [RCV000485035] ChrX:111173002..111173005 [GRCh38]
ChrX:110416230..110416233 [GRCh37]
ChrX:Xq23
likely benign
NM_002578.5(PAK3):c.10G>A (p.Gly4Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000716514]|Mental retardation 30, X-linked [RCV001169822]|not specified [RCV000499388] ChrX:111123113 [GRCh38]
ChrX:110366341 [GRCh37]
ChrX:Xq23
benign|likely benign
NM_002578.5(PAK3):c.1323G>A (p.Pro441=) single nucleotide variant not provided [RCV000940012]|not specified [RCV000501867] ChrX:111196556 [GRCh38]
ChrX:110439784 [GRCh37]
ChrX:Xq23
likely benign
NM_002578.5(PAK3):c.1468G>A (p.Ala490Thr) single nucleotide variant not specified [RCV000499611] ChrX:111216481 [GRCh38]
ChrX:110459709 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_002578.5(PAK3):c.68G>A (p.Arg23Gln) single nucleotide variant not specified [RCV000502998] ChrX:111123171 [GRCh38]
ChrX:110366399 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23
pathogenic|uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
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 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
NM_002578.5(PAK3):c.1159G>A (p.Asp387Asn) single nucleotide variant not provided [RCV000524035] ChrX:111195890 [GRCh38]
ChrX:110439118 [GRCh37]
ChrX:Xq23
likely pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_002578.5(PAK3):c.1579A>G (p.Ser527Gly) single nucleotide variant Mental retardation 30, X-linked [RCV000655945]|not provided [RCV000927169] ChrX:111220391 [GRCh38]
ChrX:110463619 [GRCh37]
ChrX:Xq23
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002578.5(PAK3):c.307C>A (p.Gln103Lys) single nucleotide variant Inborn genetic diseases [RCV000624388] ChrX:111147767 [GRCh38]
ChrX:110390995 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_002578.5(PAK3):c.276+2679A>T single nucleotide variant not provided [RCV000658051] ChrX:111144875 [GRCh38]
ChrX:110388103 [GRCh37]
ChrX:Xq23
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_002578.5(PAK3):c.717G>A (p.Arg239=) single nucleotide variant History of neurodevelopmental disorder [RCV000717816] ChrX:111163678 [GRCh38]
ChrX:110406906 [GRCh37]
ChrX:Xq23
likely benign
NM_002578.5(PAK3):c.525_527del (p.Asp175del) deletion History of neurodevelopmental disorder [RCV000719181] ChrX:111162969..111162971 [GRCh38]
ChrX:110406197..110406199 [GRCh37]
ChrX:Xq23
uncertain significance
NM_002578.5(PAK3):c.264C>T (p.Thr88=) single nucleotide variant History of neurodevelopmental disorder [RCV000718597]|not provided [RCV000899883] ChrX:111142184 [GRCh38]
ChrX:110385412 [GRCh37]
ChrX:Xq23
likely benign
NM_002578.5(PAK3):c.276+2659T>C single nucleotide variant History of neurodevelopmental disorder [RCV000720999]|not provided [RCV000992500] ChrX:111144855 [GRCh38]
ChrX:110388083 [GRCh37]
ChrX:Xq23
benign
NM_002578.5(PAK3):c.276+5G>A single nucleotide variant History of neurodevelopmental disorder [RCV000721067] ChrX:111142201 [GRCh38]
ChrX:110385429 [GRCh37]
ChrX:Xq23
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Schizophrenia