CDK16 (cyclin dependent kinase 16) - Rat Genome Database

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Gene: CDK16 (cyclin dependent kinase 16) Homo sapiens
Analyze
Symbol: CDK16
Name: cyclin dependent kinase 16
RGD ID: 734014
HGNC Page HGNC
Description: Exhibits protein serine/threonine kinase activity. Involved in regulation of insulin secretion involved in cellular response to glucose stimulus. Localizes to cytosol; extrinsic component of cytoplasmic side of plasma membrane; and microtubule cytoskeleton. Predicted to colocalize with synaptic vesicle.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cell division protein kinase 16; cyclin-dependent kinase 16; FLJ16665; PCTAIRE; PCTAIRE-motif protein kinase 1; PCTAIRE1; PCTGAIRE; PCTK1; serine/threonine-protein kinase PCTAIRE-1; testis secretory sperm-binding protein Li 224n
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 EnsemblX47,217,860 - 47,229,997 (+)EnsemblGRCh38hg38GRCh38
GRCh38X47,217,881 - 47,229,997 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X47,077,702 - 47,089,396 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X46,962,576 - 46,974,340 (+)NCBINCBI36hg18NCBI36
Build 34X46,834,368 - 46,845,646NCBI
CeleraX51,272,820 - 51,284,689 (+)NCBI
Cytogenetic MapXp11.3NCBI
HuRefX44,787,880 - 44,799,166 (+)NCBIHuRef
CHM1_1X47,109,023 - 47,120,894 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1437147   PMID:1639063   PMID:7656587   PMID:8088790   PMID:8852665   PMID:8889548   PMID:9197417   PMID:9244435   PMID:9738006   PMID:9799109   PMID:10099831   PMID:12084709  
PMID:12154078   PMID:12477932   PMID:14530271   PMID:14702039   PMID:15489334   PMID:15772651   PMID:16091426   PMID:16169070   PMID:16344560   PMID:16461345   PMID:17081983   PMID:17192257  
PMID:18029348   PMID:19299420   PMID:19460752   PMID:19531213   PMID:19884882   PMID:20360068   PMID:21335063   PMID:21461837   PMID:21832049   PMID:21873635   PMID:22184064   PMID:22412018  
PMID:22796189   PMID:22798068   PMID:22990118   PMID:23602568   PMID:23692340   PMID:24255178   PMID:24931367   PMID:25184681   PMID:25205104   PMID:25402633   PMID:25416956   PMID:25495526  
PMID:25605337   PMID:25809707   PMID:25852190   PMID:26186194   PMID:26205494   PMID:26496610   PMID:26546806   PMID:26638075   PMID:26673895   PMID:27173435   PMID:28274513   PMID:28514442  
PMID:29344296   PMID:29674275   PMID:29845934   PMID:30194290   PMID:30411496   PMID:30880224   PMID:30992425   PMID:31091453   PMID:31106900   PMID:31586073   PMID:31882554   PMID:32098961  
PMID:32203420   PMID:32296183  


Genomics

Comparative Map Data
CDK16
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX47,217,860 - 47,229,997 (+)EnsemblGRCh38hg38GRCh38
GRCh38X47,217,881 - 47,229,997 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X47,077,702 - 47,089,396 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X46,962,576 - 46,974,340 (+)NCBINCBI36hg18NCBI36
Build 34X46,834,368 - 46,845,646NCBI
CeleraX51,272,820 - 51,284,689 (+)NCBI
Cytogenetic MapXp11.3NCBI
HuRefX44,787,880 - 44,799,166 (+)NCBIHuRef
CHM1_1X47,109,023 - 47,120,894 (+)NCBICHM1_1
Cdk16
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X20,554,156 - 20,566,119 (+)NCBIGRCm39mm39
GRCm39 EnsemblX20,554,193 - 20,566,119 (+)Ensembl
GRCm38X20,687,917 - 20,699,880 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX20,687,954 - 20,699,880 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X20,265,619 - 20,277,003 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X19,845,452 - 19,856,836 (+)NCBImm8
CeleraX18,818,515 - 18,829,822 (+)NCBICelera
Cytogenetic MapXA1.3NCBI
cM MapX16.18NCBI
Cdk16
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X1,492,814 - 1,504,309 (-)NCBI
Rnor_6.0 EnsemblX1,707,289 - 1,718,637 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X1,707,285 - 1,718,821 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X2,500,716 - 2,512,252 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X12,910,972 - 12,916,939 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X12,915,537 - 12,927,071 (-)NCBI
CeleraX2,056,946 - 2,068,298 (-)NCBICelera
Cytogenetic MapXq11NCBI
Cdk16
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955516860,480 - 873,338 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955516860,474 - 873,338 (-)NCBIChiLan1.0ChiLan1.0
CDK16
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X47,512,540 - 47,524,742 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX47,512,647 - 47,524,742 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X39,655,119 - 39,666,878 (+)NCBIMhudiblu_PPA_v0panPan3
CDK16
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X40,810,107 - 40,822,130 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX40,810,500 - 40,842,700 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX15,185,265 - 15,197,292 (+)NCBI
ROS_Cfam_1.0X40,944,129 - 40,956,156 (+)NCBI
UMICH_Zoey_3.1X40,931,813 - 40,943,840 (+)NCBI
UNSW_CanFamBas_1.0X40,919,670 - 40,931,696 (+)NCBI
UU_Cfam_GSD_1.0X41,012,774 - 41,024,801 (+)NCBI
Cdk16
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X33,147,088 - 33,159,436 (+)NCBI
SpeTri2.0NW_00493650212,987,736 - 13,000,186 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CDK16
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX41,835,887 - 41,848,580 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X41,836,268 - 41,848,580 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X46,765,046 - 46,776,665 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CDK16
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X44,405,672 - 44,416,478 (+)NCBI
ChlSab1.1 EnsemblX44,410,598 - 44,416,818 (+)Ensembl
Cdk16
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248873,986,218 - 3,998,379 (+)NCBI

Position Markers
PCTK1_8525  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,088,702 - 47,089,577UniSTSGRCh37
Build 36X46,973,646 - 46,974,521RGDNCBI36
CeleraX51,283,995 - 51,284,870RGD
HuRefX44,798,472 - 44,799,347UniSTS
RH71290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,087,995 - 47,088,243UniSTSGRCh37
Build 36X46,972,939 - 46,973,187RGDNCBI36
CeleraX51,283,288 - 51,283,536RGD
Cytogenetic MapXp11UniSTS
HuRefX44,797,765 - 44,798,013UniSTS
GeneMap99-GB4 RH MapX137.29UniSTS
DXS6977E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,088,153 - 47,088,261UniSTSGRCh37
Build 36X46,973,097 - 46,973,205RGDNCBI36
CeleraX51,283,446 - 51,283,554RGD
Cytogenetic MapXp11UniSTS
HuRefX44,797,923 - 44,798,031UniSTS
GeneMap99-GB4 RH MapX138.25UniSTS
NCBI RH MapX165.2UniSTS
MARC_6347-6348:992007242:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,084,408 - 47,085,205UniSTSGRCh37
CeleraX51,279,700 - 51,280,497UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9517
Count of miRNA genes:1297
Interacting mature miRNAs:1699
Transcripts:ENST00000276052, ENST00000357227, ENST00000428400, ENST00000457458, ENST00000462483, ENST00000462827, ENST00000493213, ENST00000517426, ENST00000517479, ENST00000517997, ENST00000518022, ENST00000518391, ENST00000519758, ENST00000520141, ENST00000520295, ENST00000520893, ENST00000522234, ENST00000522883, ENST00000523034, ENST00000523344, ENST00000523543, ENST00000523699
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 2
Medium 2429 2833 1584 485 1835 327 4355 2142 3604 414 1445 1608 171 1204 2788 3
Low 9 155 141 138 115 138 1 54 126 5 13 1 4 1 2 1
Below cutoff 1 1 1 4 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001170460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_949017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL096791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG029956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ187876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA816614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA900611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X66363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000276052   ⟹   ENSP00000276052
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,223,018 - 47,229,993 (+)Ensembl
RefSeq Acc Id: ENST00000357227   ⟹   ENSP00000349762
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,218,681 - 47,229,997 (+)Ensembl
RefSeq Acc Id: ENST00000428400
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,222,853 - 47,228,990 (+)Ensembl
RefSeq Acc Id: ENST00000457458   ⟹   ENSP00000405798
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,218,233 - 47,229,997 (+)Ensembl
RefSeq Acc Id: ENST00000462483
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,228,204 - 47,228,816 (+)Ensembl
RefSeq Acc Id: ENST00000462827   ⟹   ENSP00000430824
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,227,181 - 47,229,471 (+)Ensembl
RefSeq Acc Id: ENST00000493213
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,227,123 - 47,228,143 (+)Ensembl
RefSeq Acc Id: ENST00000517426   ⟹   ENSP00000429985
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,218,718 - 47,229,415 (+)Ensembl
RefSeq Acc Id: ENST00000517479
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,218,027 - 47,222,330 (+)Ensembl
RefSeq Acc Id: ENST00000517997
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,217,860 - 47,222,380 (+)Ensembl
RefSeq Acc Id: ENST00000518022   ⟹   ENSP00000429751
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,223,009 - 47,228,990 (+)Ensembl
RefSeq Acc Id: ENST00000518391   ⟹   ENSP00000429044
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,222,132 - 47,225,036 (+)Ensembl
RefSeq Acc Id: ENST00000519758   ⟹   ENSP00000429259
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,218,691 - 47,224,731 (+)Ensembl
RefSeq Acc Id: ENST00000520141   ⟹   ENSP00000430988
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,227,181 - 47,228,991 (+)Ensembl
RefSeq Acc Id: ENST00000520295   ⟹   ENSP00000430966
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,218,387 - 47,224,473 (+)Ensembl
RefSeq Acc Id: ENST00000520893   ⟹   ENSP00000428351
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,218,710 - 47,224,740 (+)Ensembl
RefSeq Acc Id: ENST00000522234
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,218,776 - 47,226,578 (+)Ensembl
RefSeq Acc Id: ENST00000522883   ⟹   ENSP00000431085
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,218,311 - 47,223,728 (+)Ensembl
RefSeq Acc Id: ENST00000523034   ⟹   ENSP00000430486
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,223,638 - 47,225,044 (+)Ensembl
RefSeq Acc Id: ENST00000523344   ⟹   ENSP00000428349
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,225,965 - 47,229,251 (+)Ensembl
RefSeq Acc Id: ENST00000523543
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,226,492 - 47,227,452 (+)Ensembl
RefSeq Acc Id: ENST00000523699
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,226,096 - 47,227,223 (+)Ensembl
RefSeq Acc Id: ENST00000622098   ⟹   ENSP00000482886
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,218,716 - 47,229,993 (+)Ensembl
RefSeq Acc Id: NM_001170460   ⟹   NP_001163931
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,223,051 - 47,229,997 (+)NCBI
GRCh37X47,077,445 - 47,089,396 (+)NCBI
HuRefX44,787,880 - 44,799,166 (+)ENTREZGENE
CHM1_1X47,113,915 - 47,120,894 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006201   ⟹   NP_006192
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,218,681 - 47,229,997 (+)NCBI
GRCh37X47,077,445 - 47,089,396 (+)NCBI
Build 36X46,963,059 - 46,974,340 (+)NCBI Archive
HuRefX44,787,880 - 44,799,166 (+)ENTREZGENE
CHM1_1X47,109,571 - 47,120,894 (+)NCBI
Sequence:
RefSeq Acc Id: NM_033018   ⟹   NP_148978
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,218,303 - 47,229,997 (+)NCBI
GRCh37X47,077,445 - 47,089,396 (+)NCBI
Build 36X46,962,576 - 46,974,340 (+)NCBI Archive
HuRefX44,787,880 - 44,799,166 (+)ENTREZGENE
CHM1_1X47,109,023 - 47,120,894 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543920   ⟹   XP_011542222
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,222,998 - 47,229,997 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543921   ⟹   XP_011542223
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,218,046 - 47,229,997 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543922   ⟹   XP_011542224
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,218,046 - 47,229,997 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543923   ⟹   XP_011542225
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,218,053 - 47,229,997 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543924   ⟹   XP_011542226
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,218,683 - 47,229,997 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543925   ⟹   XP_011542227
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,218,681 - 47,229,997 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543926   ⟹   XP_011542228
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,220,909 - 47,229,997 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543927   ⟹   XP_011542229
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,218,681 - 47,229,997 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543928   ⟹   XP_011542230
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,217,881 - 47,229,997 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029569   ⟹   XP_016885058
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,218,046 - 47,229,997 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029570   ⟹   XP_016885059
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,218,681 - 47,229,997 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029571   ⟹   XP_016885060
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,220,909 - 47,229,997 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029572   ⟹   XP_016885061
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,218,681 - 47,229,997 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029573   ⟹   XP_016885062
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,217,881 - 47,229,997 (+)NCBI
Sequence:
RefSeq Acc Id: XR_949017
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,222,991 - 47,229,997 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001163931 (Get FASTA)   NCBI Sequence Viewer  
  NP_006192 (Get FASTA)   NCBI Sequence Viewer  
  NP_148978 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542222 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542223 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542224 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542225 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542226 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542227 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542228 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542229 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542230 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885058 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885059 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885060 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885061 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885062 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH01048 (Get FASTA)   NCBI Sequence Viewer  
  AAH06190 (Get FASTA)   NCBI Sequence Viewer  
  AAH09852 (Get FASTA)   NCBI Sequence Viewer  
  AAH15607 (Get FASTA)   NCBI Sequence Viewer  
  AAP35473 (Get FASTA)   NCBI Sequence Viewer  
  AEE61234 (Get FASTA)   NCBI Sequence Viewer  
  BAD18631 (Get FASTA)   NCBI Sequence Viewer  
  BAD92702 (Get FASTA)   NCBI Sequence Viewer  
  BAF82834 (Get FASTA)   NCBI Sequence Viewer  
  BAH12447 (Get FASTA)   NCBI Sequence Viewer  
  BAH13564 (Get FASTA)   NCBI Sequence Viewer  
  BAH14066 (Get FASTA)   NCBI Sequence Viewer  
  CAA47006 (Get FASTA)   NCBI Sequence Viewer  
  EAW59294 (Get FASTA)   NCBI Sequence Viewer  
  EAW59295 (Get FASTA)   NCBI Sequence Viewer  
  EAW59296 (Get FASTA)   NCBI Sequence Viewer  
  EAW59297 (Get FASTA)   NCBI Sequence Viewer  
  EAW59298 (Get FASTA)   NCBI Sequence Viewer  
  Q00536 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_148978   ⟸   NM_033018
- Peptide Label: isoform 2
- UniProtKB: Q00536 (UniProtKB/Swiss-Prot),   A0A024R183 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_006192   ⟸   NM_006201
- Peptide Label: isoform 1
- UniProtKB: Q00536 (UniProtKB/Swiss-Prot),   A0A140VK97 (UniProtKB/TrEMBL),   Q9BRL4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001163931   ⟸   NM_001170460
- Peptide Label: isoform 3
- UniProtKB: Q00536 (UniProtKB/Swiss-Prot),   Q9BRL4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542230   ⟸   XM_011543928
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011542223   ⟸   XM_011543921
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011542224   ⟸   XM_011543922
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011542225   ⟸   XM_011543923
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011542226   ⟸   XM_011543924
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011542229   ⟸   XM_011543927
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011542227   ⟸   XM_011543925
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011542228   ⟸   XM_011543926
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011542222   ⟸   XM_011543920
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016885062   ⟸   XM_017029573
- Peptide Label: isoform X7
- UniProtKB: Q00536 (UniProtKB/Swiss-Prot),   A0A140VK97 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885058   ⟸   XM_017029569
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016885061   ⟸   XM_017029572
- Peptide Label: isoform X7
- UniProtKB: Q00536 (UniProtKB/Swiss-Prot),   A0A140VK97 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885059   ⟸   XM_017029570
- Peptide Label: isoform X7
- UniProtKB: Q00536 (UniProtKB/Swiss-Prot),   A0A140VK97 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885060   ⟸   XM_017029571
- Peptide Label: isoform X7
- UniProtKB: Q00536 (UniProtKB/Swiss-Prot),   A0A140VK97 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000430824   ⟸   ENST00000462827
RefSeq Acc Id: ENSP00000429985   ⟸   ENST00000517426
RefSeq Acc Id: ENSP00000482886   ⟸   ENST00000622098
RefSeq Acc Id: ENSP00000429751   ⟸   ENST00000518022
RefSeq Acc Id: ENSP00000429044   ⟸   ENST00000518391
RefSeq Acc Id: ENSP00000429259   ⟸   ENST00000519758
RefSeq Acc Id: ENSP00000430966   ⟸   ENST00000520295
RefSeq Acc Id: ENSP00000430988   ⟸   ENST00000520141
RefSeq Acc Id: ENSP00000428351   ⟸   ENST00000520893
RefSeq Acc Id: ENSP00000405798   ⟸   ENST00000457458
RefSeq Acc Id: ENSP00000431085   ⟸   ENST00000522883
RefSeq Acc Id: ENSP00000428349   ⟸   ENST00000523344
RefSeq Acc Id: ENSP00000430486   ⟸   ENST00000523034
RefSeq Acc Id: ENSP00000276052   ⟸   ENST00000276052
RefSeq Acc Id: ENSP00000349762   ⟸   ENST00000357227
Protein Domains
Protein kinase

Promoters
RGD ID:6809119
Promoter ID:HG_KWN:66590
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000056406,   OTTHUMT00000056407
Position:
Human AssemblyChrPosition (strand)Source
Build 36X46,961,821 - 46,963,177 (+)MPROMDB
RGD ID:6808568
Promoter ID:HG_KWN:66591
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_001170460
Position:
Human AssemblyChrPosition (strand)Source
Build 36X46,967,391 - 46,967,891 (+)MPROMDB
RGD ID:6814827
Promoter ID:HG_XEF:8587
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_001004132,   NM_001094997,   NM_001097316
Position:
Human AssemblyChrPosition (strand)Source
Build 36X46,967,929 - 46,968,429 (+)MPROMDB
RGD ID:6809120
Promoter ID:HG_KWN:66592
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000056408,   OTTHUMT00000056410
Position:
Human AssemblyChrPosition (strand)Source
Build 36X46,970,516 - 46,971,722 (+)MPROMDB
RGD ID:6809121
Promoter ID:HG_KWN:66593
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000056409
Position:
Human AssemblyChrPosition (strand)Source
Build 36X46,971,816 - 46,972,992 (+)MPROMDB
RGD ID:13605156
Promoter ID:EPDNEW_H28762
Type:initiation region
Name:CDK16_2
Description:cyclin dependent kinase 16
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28763  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,218,303 - 47,218,363EPDNEW
RGD ID:13605158
Promoter ID:EPDNEW_H28763
Type:initiation region
Name:CDK16_1
Description:cyclin dependent kinase 16
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28762  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,218,712 - 47,218,772EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xp11.4-11.23(chrX:41434043-47880733)x1 copy number loss See cases [RCV000053088] ChrX:41434043..47880733 [GRCh38]
ChrX:41293296..47619970 [GRCh37]
ChrX:41178240..47625076 [NCBI36]
ChrX:Xp11.4-11.23
pathogenic
NM_006201.5(CDK16):c.-6-279C>T single nucleotide variant not specified [RCV000173231] ChrX:47223273 [GRCh38]
ChrX:47082672 [GRCh37]
ChrX:Xp11.3
benign
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_006201.5(CDK16):c.727C>T (p.Leu243=) single nucleotide variant not provided [RCV000079598] ChrX:47225864 [GRCh38]
ChrX:47085263 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.3(chrX:46464096-47419599)x2 copy number gain See cases [RCV000139661] ChrX:46464096..47419599 [GRCh38]
ChrX:46323531..47278998 [GRCh37]
ChrX:46208475..47163942 [NCBI36]
ChrX:Xp11.3
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp11.3-11.23(chrX:44632305-47607180)x2 copy number gain See cases [RCV000143089] ChrX:44632305..47607180 [GRCh38]
ChrX:44491551..47466579 [GRCh37]
ChrX:44376495..47351523 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
NM_006201.5(CDK16):c.793-5C>T single nucleotide variant not specified [RCV000152956] ChrX:47226274 [GRCh38]
ChrX:47085673 [GRCh37]
ChrX:Xp11.3
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_006201.5(CDK16):c.-6-335C>G single nucleotide variant not specified [RCV000152953] ChrX:47223217 [GRCh38]
ChrX:47082616 [GRCh37]
ChrX:Xp11.3
benign|uncertain significance
NM_006201.5(CDK16):c.1240C>T (p.Arg414Ter) single nucleotide variant not provided [RCV000152957] ChrX:47227098 [GRCh38]
ChrX:47086497 [GRCh37]
ChrX:Xp11.3
pathogenic|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 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_006201.5(CDK16):c.1027A>T (p.Ile343Phe) single nucleotide variant not provided [RCV000482546] ChrX:47226693 [GRCh38]
ChrX:47086092 [GRCh37]
ChrX:Xp11.3
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
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 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
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 Xp11.3-11.23(chrX:46326268-48801984)x2 copy number gain See cases [RCV000511234] ChrX:46326268..48801984 [GRCh37]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_006201.5(CDK16):c.1291G>A (p.Gly431Ser) single nucleotide variant not provided [RCV000595626] ChrX:47227385 [GRCh38]
ChrX:47086784 [GRCh37]
ChrX:Xp11.3
uncertain significance
NM_006201.5(CDK16):c.1376-10C>T single nucleotide variant not provided [RCV000880341]|not specified [RCV000595935] ChrX:47228557 [GRCh38]
ChrX:47087956 [GRCh37]
ChrX:Xp11.3
benign
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(chrX:46647617-47413846)x2 copy number gain not provided [RCV000684329] ChrX:46647617..47413846 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.33-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
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
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
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) copy number gain not provided [RCV000767648] ChrX:43507300..48929622 [GRCh37]
ChrX:Xp11.3-11.23
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 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_006201.5(CDK16):c.462+7A>T single nucleotide variant not provided [RCV000972994] ChrX:47224750 [GRCh38]
ChrX:47084149 [GRCh37]
ChrX:Xp11.3
benign
NM_006201.5(CDK16):c.-6-416C>T single nucleotide variant Intellectual disability [RCV001256146] ChrX:47223136 [GRCh38]
ChrX:47082535 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp11.23(chrX:46942052-47379255)x3 copy number gain not provided [RCV001258952] ChrX:46942052..47379255 [GRCh37]
ChrX:Xp11.23
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
NM_006201.5(CDK16):c.209T>C (p.Val70Ala) single nucleotide variant not provided [RCV001311065] ChrX:47224391 [GRCh38]
ChrX:47083790 [GRCh37]
ChrX:Xp11.3
uncertain significance
NC_000023.10:g.(?_46696536)_(47436910_?)dup duplication Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV001309817] ChrX:46696536..47436910 [GRCh37]
ChrX:Xp11.23
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8749 AgrOrtholog
COSMIC CDK16 COSMIC
Ensembl Genes ENSG00000102225 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000276052 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000349762 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000405798 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428349 UniProtKB/TrEMBL
  ENSP00000428351 UniProtKB/TrEMBL
  ENSP00000429044 UniProtKB/TrEMBL
  ENSP00000429259 UniProtKB/TrEMBL
  ENSP00000429751 UniProtKB/Swiss-Prot
  ENSP00000429985 UniProtKB/TrEMBL
  ENSP00000430486 UniProtKB/TrEMBL
  ENSP00000430824 UniProtKB/TrEMBL
  ENSP00000430966 UniProtKB/TrEMBL
  ENSP00000430988 UniProtKB/TrEMBL
  ENSP00000431085 UniProtKB/TrEMBL
  ENSP00000482886 UniProtKB/TrEMBL
Ensembl Transcript ENST00000276052 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000357227 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000457458 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000462827 UniProtKB/TrEMBL
  ENST00000517426 UniProtKB/TrEMBL
  ENST00000518022 UniProtKB/Swiss-Prot
  ENST00000518391 UniProtKB/TrEMBL
  ENST00000519758 UniProtKB/TrEMBL
  ENST00000520141 UniProtKB/TrEMBL
  ENST00000520295 UniProtKB/TrEMBL
  ENST00000520893 UniProtKB/TrEMBL
  ENST00000522883 UniProtKB/TrEMBL
  ENST00000523034 UniProtKB/TrEMBL
  ENST00000523344 UniProtKB/TrEMBL
  ENST00000622098 UniProtKB/TrEMBL
GTEx ENSG00000102225 GTEx
HGNC ID HGNC:8749 ENTREZGENE
Human Proteome Map CDK16 Human Proteome Map
InterPro Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5127 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5127 ENTREZGENE
OMIM 311550 OMIM
Pfam Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33095 PharmGKB
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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 SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R183 ENTREZGENE, UniProtKB/TrEMBL
  A0A087WZU2_HUMAN UniProtKB/TrEMBL
  A0A140VK97 ENTREZGENE, UniProtKB/TrEMBL
  CDK16_HUMAN UniProtKB/Swiss-Prot
  E5RGN0_HUMAN UniProtKB/TrEMBL
  E5RGV7_HUMAN UniProtKB/TrEMBL
  E5RIU4_HUMAN UniProtKB/TrEMBL
  E5RIY8_HUMAN UniProtKB/TrEMBL
  E5RJM2_HUMAN UniProtKB/TrEMBL
  E5RJQ8_HUMAN UniProtKB/TrEMBL
  H0YAZ9_HUMAN UniProtKB/TrEMBL
  H0YBX5_HUMAN UniProtKB/TrEMBL
  H0YC36_HUMAN UniProtKB/TrEMBL
  H0YC60_HUMAN UniProtKB/TrEMBL
  Q00536 ENTREZGENE
  Q9BRL4 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8K280 UniProtKB/Swiss-Prot
  B7Z7C8 UniProtKB/Swiss-Prot
  J3KN74 UniProtKB/Swiss-Prot
  J3KQP7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-21 CDK16  cyclin dependent kinase 16    cyclin-dependent kinase 16  Symbol and/or name change 5135510 APPROVED
2011-08-17 CDK16  cyclin-dependent kinase 16  CDK16  cyclin-dependent kinase 16  Symbol and/or name change 5135510 APPROVED
2011-07-27 CDK16  cyclin-dependent kinase 16  PCTK1  PCTAIRE protein kinase 1  Symbol and/or name change 5135510 APPROVED