PPEF1 (protein phosphatase with EF-hand domain 1) - Rat Genome Database

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Gene: PPEF1 (protein phosphatase with EF-hand domain 1) Homo sapiens
Analyze
Symbol: PPEF1
Name: protein phosphatase with EF-hand domain 1
RGD ID: 1606579
HGNC Page HGNC
Description: Predicted to have protein serine/threonine phosphatase activity. Predicted to be involved in protein dephosphorylation and regulation of rhodopsin mediated signaling pathway. Predicted to localize to cytosol and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: PP7; PPEF; PPP7C; PPP7CA; protein phosphatase 7, catalytic subunit, alpha isozyme; protein phosphatase with EF calcium-binding domain; protein phosphatase, serine/threonine type, with EF-hands; serine/threonine protein phosphatase 7; serine/threonine-protein phosphatase 7; serine/threonine-protein phosphatase with EF-hands 1
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 EnsemblX18,675,909 - 18,827,921 (+)EnsemblGRCh38hg38GRCh38
GRCh38X18,675,067 - 18,827,921 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X18,693,187 - 18,846,035 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X18,618,966 - 18,755,956 (+)NCBINCBI36hg18NCBI36
CeleraX22,829,137 - 22,966,124 (+)NCBI
Cytogenetic MapXp22.13NCBI
HuRefX16,462,688 - 16,598,790 (+)NCBIHuRef
CHM1_1X18,740,148 - 18,877,076 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (IBA,TAS)
nucleus  (IBA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9215685   PMID:9326663   PMID:9430683   PMID:10617768   PMID:11713293   PMID:12051765   PMID:12477932   PMID:12665801   PMID:14759258   PMID:15489334   PMID:15772651   PMID:21873635  
PMID:22292511   PMID:25416956   PMID:27880917   PMID:28051100   PMID:28330616   PMID:28514442   PMID:28675297   PMID:32814053  


Genomics

Comparative Map Data
PPEF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX18,675,909 - 18,827,921 (+)EnsemblGRCh38hg38GRCh38
GRCh38X18,675,067 - 18,827,921 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X18,693,187 - 18,846,035 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X18,618,966 - 18,755,956 (+)NCBINCBI36hg18NCBI36
CeleraX22,829,137 - 22,966,124 (+)NCBI
Cytogenetic MapXp22.13NCBI
HuRefX16,462,688 - 16,598,790 (+)NCBIHuRef
CHM1_1X18,740,148 - 18,877,076 (+)NCBICHM1_1
Ppef1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X159,404,997 - 159,534,286 (-)NCBIGRCm39mm39
GRCm39 EnsemblX159,406,090 - 159,518,761 (-)Ensembl
GRCm38X160,622,419 - 160,751,290 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX160,623,094 - 160,735,765 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X157,061,026 - 157,157,904 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X155,967,609 - 156,038,528 (-)NCBImm8
CeleraX143,864,055 - 143,960,973 (-)NCBICelera
Cytogenetic MapXF4NCBI
cM MapX73.95NCBI
Ppef1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X33,994,503 - 34,151,704 (+)NCBI
Rnor_6.0 EnsemblX35,869,538 - 35,947,282 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X35,822,687 - 35,947,690 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X36,142,176 - 36,270,449 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X55,347,219 - 55,436,212 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX34,715,653 - 34,830,012 (+)NCBICelera
Cytogenetic MapXq14NCBI
Ppef1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955586597,164 - 760,136 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955586597,620 - 761,433 (-)NCBIChiLan1.0ChiLan1.0
PPEF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X18,675,714 - 18,812,412 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX18,675,714 - 18,812,412 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X11,311,905 - 11,448,676 (+)NCBIMhudiblu_PPA_v0panPan3
PPEF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X14,752,768 - 14,876,297 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX14,760,452 - 14,875,997 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X14,719,061 - 14,842,205 (+)NCBI
UMICH_Zoey_3.1X14,779,855 - 14,902,913 (+)NCBI
UNSW_CanFamBas_1.0X14,773,051 - 14,900,714 (+)NCBI
UU_Cfam_GSD_1.0X14,836,884 - 14,960,026 (+)NCBI
Ppef1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X7,827,299 - 7,954,506 (+)NCBI
SpeTri2.0NW_004936844316,889 - 444,043 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPEF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX15,111,328 - 15,251,232 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X15,111,230 - 15,251,415 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X16,319,828 - 16,459,831 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PPEF1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X17,130,694 - 17,265,097 (+)NCBI
ChlSab1.1 EnsemblX17,175,007 - 17,264,701 (+)Ensembl
Ppef1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248293,520,439 - 3,666,568 (+)NCBI

Position Markers
DXS999  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,835,096 - 18,835,363UniSTSGRCh37
GRCh37X18,835,177 - 18,835,343UniSTSGRCh37
Build 36X18,745,098 - 18,745,264RGDNCBI36
CeleraX22,955,189 - 22,955,457UniSTS
Cytogenetic MapXp22UniSTS
HuRefX16,588,126 - 16,588,401UniSTS
HuRefX16,588,207 - 16,588,381UniSTS
Marshfield Genetic MapX23.26UniSTS
Marshfield Genetic MapX23.26RGD
Genethon Genetic MapX28.1UniSTS
TNG Radiation Hybrid MapX6540.0UniSTS
deCODE Assembly MapX31.92UniSTS
Stanford-G3 RH MapX1013.0UniSTS
GeneMap99-GB4 RH MapX92.32UniSTS
Whitehead-RH MapX5.5UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX411.4UniSTS
GeneMap99-G3 RH MapX199.0UniSTS
DXS8001  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,799,779 - 18,800,015UniSTSGRCh37
Build 36X18,709,700 - 18,709,936RGDNCBI36
CeleraX22,919,876 - 22,920,112RGD
Cytogenetic MapXp22UniSTS
HuRefX16,553,612 - 16,553,863UniSTS
DXS7765  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,843,606 - 18,843,679UniSTSGRCh37
Build 36X18,753,527 - 18,753,600RGDNCBI36
CeleraX22,963,697 - 22,963,770RGD
Cytogenetic MapXp22UniSTS
HuRefX16,596,363 - 16,596,436UniSTS
PPEF1__5756  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,845,423 - 18,846,072UniSTSGRCh37
Build 36X18,755,344 - 18,755,993RGDNCBI36
CeleraX22,965,512 - 22,966,161RGD
HuRefX16,598,178 - 16,598,827UniSTS
DXS999  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp22UniSTS
Cytogenetic MapXp11UniSTS
TNG Radiation Hybrid MapX6540.0UniSTS
Stanford-G3 RH MapX1013.0UniSTS
NCBI RH MapX411.4UniSTS
GeneMap99-G3 RH MapX199.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2224
Count of miRNA genes:875
Interacting mature miRNAs:1038
Transcripts:ENST00000349874, ENST00000359763, ENST00000361511, ENST00000379962, ENST00000470157, ENST00000471570, ENST00000472826, ENST00000486029, ENST00000496075, ENST00000496616, ENST00000543630, ENST00000544635
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 adipose tissue appendage entire extraembryonic component
High
Medium 1 2 1 4 1 1 2 94 339 3
Low 326 151 477 23 334 21 258 316 1742 87 344 525 3 14 98
Below cutoff 1998 2638 1102 455 1423 304 3806 1607 1858 265 680 1016 155 1089 2476 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF023455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF027977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL096700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X97867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z94056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000349874   ⟹   ENSP00000341892
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,690,926 - 18,827,917 (+)Ensembl
RefSeq Acc Id: ENST00000361511   ⟹   ENSP00000354871
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,690,913 - 18,827,921 (+)Ensembl
RefSeq Acc Id: ENST00000379962
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,730,164 - 18,827,660 (+)Ensembl
RefSeq Acc Id: ENST00000470157   ⟹   ENSP00000419273
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,818,095 - 18,827,547 (+)Ensembl
RefSeq Acc Id: ENST00000471570
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,700,051 - 18,749,952 (+)Ensembl
RefSeq Acc Id: ENST00000472826   ⟹   ENSP00000419948
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,707,654 - 18,761,576 (+)Ensembl
RefSeq Acc Id: ENST00000486029
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,675,909 - 18,697,909 (+)Ensembl
RefSeq Acc Id: ENST00000496075   ⟹   ENSP00000418623
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,707,658 - 18,789,200 (+)Ensembl
RefSeq Acc Id: ENST00000496616
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX18,700,051 - 18,749,955 (+)Ensembl
RefSeq Acc Id: NM_001377986   ⟹   NP_001364915
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,675,067 - 18,827,917 (+)NCBI
GRCh38X18,686,135 - 18,827,917 (+)NCBI
RefSeq Acc Id: NM_001377993   ⟹   NP_001364922
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,700,065 - 18,827,917 (+)NCBI
RefSeq Acc Id: NM_001377994   ⟹   NP_001364923
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,707,645 - 18,827,917 (+)NCBI
RefSeq Acc Id: NM_001377995   ⟹   NP_001364924
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,707,645 - 18,827,917 (+)NCBI
RefSeq Acc Id: NM_001377996   ⟹   NP_001364925
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,707,645 - 18,827,917 (+)NCBI
RefSeq Acc Id: NM_001378381   ⟹   NP_001365310
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,682,131 - 18,827,917 (+)NCBI
RefSeq Acc Id: NM_001378382   ⟹   NP_001365311
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,675,067 - 18,827,917 (+)NCBI
RefSeq Acc Id: NM_001389620   ⟹   NP_001376549
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,700,065 - 18,827,917 (+)NCBI
RefSeq Acc Id: NM_001389621   ⟹   NP_001376550
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,700,065 - 18,827,917 (+)NCBI
RefSeq Acc Id: NM_001389623   ⟹   NP_001376552
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,700,065 - 18,827,917 (+)NCBI
RefSeq Acc Id: NM_001389624   ⟹   NP_001376553
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,700,065 - 18,827,917 (+)NCBI
RefSeq Acc Id: NM_006240   ⟹   NP_006231
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,690,963 - 18,827,917 (+)NCBI
GRCh37X18,704,257 - 18,846,039 (+)NCBI
Build 36X18,618,966 - 18,755,956 (+)NCBI Archive
CeleraX22,829,137 - 22,966,124 (+)RGD
HuRefX16,462,688 - 16,598,790 (+)RGD
CHM1_1X18,740,148 - 18,877,076 (+)NCBI
Sequence:
RefSeq Acc Id: NM_152224   ⟹   NP_689410
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,690,963 - 18,827,917 (+)NCBI
GRCh37X18,704,257 - 18,846,039 (+)NCBI
Build 36X18,618,966 - 18,755,956 (+)NCBI Archive
CeleraX22,829,137 - 22,966,124 (+)RGD
HuRefX16,462,688 - 16,598,790 (+)RGD
CHM1_1X18,740,148 - 18,877,076 (+)NCBI
Sequence:
RefSeq Acc Id: NM_152226   ⟹   NP_689412
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,690,963 - 18,827,917 (+)NCBI
GRCh37X18,704,257 - 18,846,039 (+)NCBI
Build 36X18,618,966 - 18,755,956 (+)NCBI Archive
CeleraX22,829,137 - 22,966,124 (+)RGD
HuRefX16,462,688 - 16,598,790 (+)RGD
CHM1_1X18,740,148 - 18,877,076 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029612   ⟹   XP_016885101
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,675,909 - 18,827,921 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001364915 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364922 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364923 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364924 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364925 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365310 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365311 (Get FASTA)   NCBI Sequence Viewer  
  NP_001376549 (Get FASTA)   NCBI Sequence Viewer  
  NP_001376550 (Get FASTA)   NCBI Sequence Viewer  
  NP_001376552 (Get FASTA)   NCBI Sequence Viewer  
  NP_001376553 (Get FASTA)   NCBI Sequence Viewer  
  NP_006231 (Get FASTA)   NCBI Sequence Viewer  
  NP_689410 (Get FASTA)   NCBI Sequence Viewer  
  NP_689412 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885101 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB82795 (Get FASTA)   NCBI Sequence Viewer  
  AAC05825 (Get FASTA)   NCBI Sequence Viewer  
  AAH36026 (Get FASTA)   NCBI Sequence Viewer  
  BAF83152 (Get FASTA)   NCBI Sequence Viewer  
  BAF84924 (Get FASTA)   NCBI Sequence Viewer  
  BAF98700 (Get FASTA)   NCBI Sequence Viewer  
  BAH12089 (Get FASTA)   NCBI Sequence Viewer  
  BAH13353 (Get FASTA)   NCBI Sequence Viewer  
  CAA66461 (Get FASTA)   NCBI Sequence Viewer  
  EAW98943 (Get FASTA)   NCBI Sequence Viewer  
  EAW98944 (Get FASTA)   NCBI Sequence Viewer  
  EAW98945 (Get FASTA)   NCBI Sequence Viewer  
  EAW98946 (Get FASTA)   NCBI Sequence Viewer  
  EAW98947 (Get FASTA)   NCBI Sequence Viewer  
  EAW98948 (Get FASTA)   NCBI Sequence Viewer  
  EAW98949 (Get FASTA)   NCBI Sequence Viewer  
  O14829 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_689410   ⟸   NM_152224
- Peptide Label: isoform 1b
- UniProtKB: O14829 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_689412   ⟸   NM_152226
- Peptide Label: isoform 3
- UniProtKB: O14829 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_006231   ⟸   NM_006240
- Peptide Label: isoform 1
- UniProtKB: O14829 (UniProtKB/Swiss-Prot),   A0A024RBZ9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885101   ⟸   XM_017029612
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001365311   ⟸   NM_001378382
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001365310   ⟸   NM_001378381
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001364915   ⟸   NM_001377986
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001364922   ⟸   NM_001377993
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001364925   ⟸   NM_001377996
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001364924   ⟸   NM_001377995
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001364923   ⟸   NM_001377994
- Peptide Label: isoform 2
RefSeq Acc Id: ENSP00000341892   ⟸   ENST00000349874
RefSeq Acc Id: ENSP00000354871   ⟸   ENST00000361511
RefSeq Acc Id: ENSP00000418623   ⟸   ENST00000496075
RefSeq Acc Id: ENSP00000419273   ⟸   ENST00000470157
RefSeq Acc Id: ENSP00000419948   ⟸   ENST00000472826
RefSeq Acc Id: NP_001376550   ⟸   NM_001389621
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001376552   ⟸   NM_001389623
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001376553   ⟸   NM_001389624
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001376549   ⟸   NM_001389620
- Peptide Label: isoform 1
Protein Domains
EF-hand   IQ   PPP5   SER_THR_PHOSPHATASE

Promoters
RGD ID:6809142
Promoter ID:HG_KWN:66158
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000055955
Position:
Human AssemblyChrPosition (strand)Source
Build 36X18,627,126 - 18,628,127 (+)MPROMDB
RGD ID:6809141
Promoter ID:HG_KWN:66159
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000379962,   OTTHUMT00000055956
Position:
Human AssemblyChrPosition (strand)Source
Build 36X18,635,611 - 18,636,111 (+)MPROMDB
RGD ID:13604868
Promoter ID:EPDNEW_H28619
Type:initiation region
Name:PPEF1_1
Description:protein phosphatase with EF-hand domain 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28620  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,690,963 - 18,691,023EPDNEW
RGD ID:13604872
Promoter ID:EPDNEW_H28620
Type:initiation region
Name:PPEF1_2
Description:protein phosphatase with EF-hand domain 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28619  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X18,707,657 - 18,707,717EPDNEW

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 Xp22.13-22.12(chrX:18660565-19743908)x1 copy number loss See cases [RCV000051384] ChrX:18660565..19743908 [GRCh38]
ChrX:18678685..19762026 [GRCh37]
ChrX:18588606..19671947 [NCBI36]
ChrX:Xp22.13-22.12
pathogenic|uncertain significance
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 Xp22.13(chrX:18643580-18838741)x2 copy number gain See cases [RCV000052365] ChrX:18643580..18838741 [GRCh38]
ChrX:18661700..18856859 [GRCh37]
ChrX:18571621..18766780 [NCBI36]
ChrX:Xp22.13
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.2-22.13(chrX:17167171-18804175)x1 copy number loss See cases [RCV000053060] ChrX:17167171..18804175 [GRCh38]
ChrX:17185294..18822293 [GRCh37]
ChrX:17095215..18732214 [NCBI36]
ChrX:Xp22.2-22.13
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(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
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 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 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.2-22.11(chrX:15173626-23952585)x2 copy number gain See cases [RCV000134875] ChrX:15173626..23952585 [GRCh38]
ChrX:15191748..23970702 [GRCh37]
ChrX:15101669..23880623 [NCBI36]
ChrX:Xp22.2-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.13(chrX:18644112-18804034)x3 copy number gain See cases [RCV000136634] ChrX:18644112..18804034 [GRCh38]
ChrX:18662232..18822152 [GRCh37]
ChrX:18572153..18732073 [NCBI36]
ChrX:Xp22.13
uncertain significance
GRCh38/hg38 Xp22.13(chrX:18644112-18804034)x2 copy number gain See cases [RCV000136635] ChrX:18644112..18804034 [GRCh38]
ChrX:18662232..18822152 [GRCh37]
ChrX:18572153..18732073 [NCBI36]
ChrX:Xp22.13
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.2-22.13(chrX:15789793-18902428)x1 copy number loss See cases [RCV000141732] ChrX:15789793..18902428 [GRCh38]
ChrX:15807916..18920546 [GRCh37]
ChrX:15717837..18830467 [NCBI36]
ChrX:Xp22.2-22.13
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.2-22.12(chrX:12856740-19380317)x2 copy number gain See cases [RCV000143774] ChrX:12856740..19380317 [GRCh38]
ChrX:12874859..19398435 [GRCh37]
ChrX:12784780..19308356 [NCBI36]
ChrX:Xp22.2-22.12
likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.13(chrX:18644112-18676976)x1 copy number loss See cases [RCV000138345] ChrX:18644112..18676976 [GRCh38]
ChrX:18662232..18695095 [GRCh37]
ChrX:18572153..18605016 [NCBI36]
ChrX:Xp22.13
pathogenic|likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-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:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xp22.33-11.22(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:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-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: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
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
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2 copy number gain See cases [RCV000511443] ChrX:15290524..29747172 [GRCh37]
ChrX:Xp22.2-21.2
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.13(chrX:18590650-18727244)x2 copy number gain See cases [RCV000511304] ChrX:18590650..18727244 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.13(chrX:18456527-19119902)x2 copy number gain not provided [RCV000684285] ChrX:18456527..19119902 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.13(chrX:17921530-18947424)x2 copy number gain not provided [RCV000753400] ChrX:17921530..18947424 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
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 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.13(chrX:17557444-19260546)x2 copy number gain not provided [RCV000849199] ChrX:17557444..19260546 [GRCh37]
ChrX:Xp22.13
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849766] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849768] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:15330714-21915234)x2 copy number gain not provided [RCV000846517] ChrX:15330714..21915234 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.2-22.12(chrX:16194993-20640014)x2 copy number gain not provided [RCV001007268] ChrX:16194993..20640014 [GRCh37]
ChrX:Xp22.2-22.12
pathogenic
GRCh37/hg19 Xp22.33-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_006240.3(PPEF1):c.900A>G (p.Val300=) single nucleotide variant not provided [RCV000885365] ChrX:18784036 [GRCh38]
ChrX:18802154 [GRCh37]
ChrX:Xp22.13
benign
NM_006240.3(PPEF1):c.567C>T (p.Leu189=) single nucleotide variant not provided [RCV000887314] ChrX:18779018 [GRCh38]
ChrX:18797136 [GRCh37]
ChrX:Xp22.13
benign
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NC_000023.10:g.(?_18660114)_(19377781_?)del deletion Pyruvate dehydrogenase E1-alpha deficiency [RCV001033913] ChrX:18660114..19377781 [GRCh37]
ChrX:Xp22.13-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.13-22.12(chrX:18582617-19417295)x3 copy number gain not provided [RCV001259459] ChrX:18582617..19417295 [GRCh37]
ChrX:Xp22.13-22.12
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
NC_000023.10:g.(?_17393881)_(20284750_?)dup duplication Early infantile epileptic encephalopathy 2 [RCV001345684] ChrX:17393881..20284750 [GRCh37]
ChrX:Xp22.13-22.12
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9243 AgrOrtholog
COSMIC PPEF1 COSMIC
Ensembl Genes ENSG00000086717 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000341892 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000354871 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000418623 UniProtKB/TrEMBL
  ENSP00000419273 UniProtKB/TrEMBL
  ENSP00000419948 UniProtKB/TrEMBL
Ensembl Transcript ENST00000349874 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000361511 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000379962 ENTREZGENE
  ENST00000470157 UniProtKB/TrEMBL
  ENST00000472826 UniProtKB/TrEMBL
  ENST00000496075 UniProtKB/TrEMBL
Gene3D-CATH 3.60.21.10 UniProtKB/TrEMBL
GTEx ENSG00000086717 GTEx
HGNC ID HGNC:9243 ENTREZGENE
Human Proteome Map PPEF1 Human Proteome Map
InterPro Calcineurin-like_PHP_ApaH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IQ_motif_EF-hand-BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Metallo-depent_PP-like UniProtKB/TrEMBL
  PPP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr-Pase_EF-hand_contain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr-sp_prot-phosphatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5475 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5475 ENTREZGENE
OMIM 300109 OMIM
Pfam EF-hand_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Metallophos UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00612 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPP5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33564 PharmGKB
PIRSF PPEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS STPHPHTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50096 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SER_THR_PHOSPHATASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EFh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PP2Ac UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00015 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RBZ9 ENTREZGENE, UniProtKB/TrEMBL
  C9JY08_HUMAN UniProtKB/TrEMBL
  F8WC69_HUMAN UniProtKB/TrEMBL
  H7C592_HUMAN UniProtKB/TrEMBL
  O14829 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NHP4 UniProtKB/Swiss-Prot
  A8K348 UniProtKB/Swiss-Prot
  O15253 UniProtKB/Swiss-Prot
  Q9NU21 UniProtKB/Swiss-Prot
  Q9UJH0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-29 PPEF1  protein phosphatase with EF-hand domain 1  PPEF1  protein phosphatase, EF-hand calcium binding domain 1  Symbol and/or name change 5135510 APPROVED