MTMR1 (myotubularin related protein 1) - Rat Genome Database

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Gene: MTMR1 (myotubularin related protein 1) Homo sapiens
Analyze
Symbol: MTMR1
Name: myotubularin related protein 1
RGD ID: 1315259
HGNC Page HGNC
Description: Exhibits phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity; phosphatidylinositol-3-phosphatase activity; and protein homodimerization activity. Involved in phosphatidylinositol dephosphorylation and regulation of phosphatidylinositol dephosphorylation. Localizes to cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: myotubularin-related protein 1; phosphatidylinositol-3,5-bisphosphate 3-phosphatase; phosphatidylinositol-3-phosphate phosphatase
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 EnsemblX150,692,971 - 150,765,108 (+)EnsemblGRCh38hg38GRCh38
GRCh38X150,692,962 - 150,765,108 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X149,861,435 - 149,933,581 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X149,612,527 - 149,684,233 (+)NCBINCBI36hg18NCBI36
Build 34X149,532,414 - 149,604,136NCBI
CeleraX150,109,440 - 150,181,123 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX138,746,677 - 138,793,029 (+)NCBIHuRef
CHM1_1X149,736,187 - 149,807,919 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA,IEA,ISS)
cytosol  (TAS)
membrane  (IEA)
plasma membrane  (ISS)

Molecular Function

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

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:8640223   PMID:9736772   PMID:9828128   PMID:9847074   PMID:11275328   PMID:11733541   PMID:11846405   PMID:12217958   PMID:12477932   PMID:12925573   PMID:14702039   PMID:16787938  
PMID:20685272   PMID:21873635   PMID:23443559   PMID:25515538   PMID:25609649   PMID:25659891   PMID:26186194   PMID:27018598   PMID:27432908   PMID:27880917   PMID:28065597   PMID:28514442  
PMID:28675297   PMID:29568061   PMID:30639242   PMID:31678930  


Genomics

Comparative Map Data
MTMR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX150,692,971 - 150,765,108 (+)EnsemblGRCh38hg38GRCh38
GRCh38X150,692,962 - 150,765,108 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X149,861,435 - 149,933,581 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X149,612,527 - 149,684,233 (+)NCBINCBI36hg18NCBI36
Build 34X149,532,414 - 149,604,136NCBI
CeleraX150,109,440 - 150,181,123 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX138,746,677 - 138,793,029 (+)NCBIHuRef
CHM1_1X149,736,187 - 149,807,919 (+)NCBICHM1_1
Mtmr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X70,408,332 - 70,462,802 (+)NCBIGRCm39mm39
GRCm39 EnsemblX70,408,366 - 70,462,802 (+)Ensembl
GRCm38X71,364,760 - 71,419,196 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX71,364,760 - 71,419,196 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X68,617,935 - 68,672,371 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X67,625,316 - 67,679,752 (+)NCBImm8
CeleraX62,344,835 - 62,399,305 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
Mtmr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.218215,031 - 248,541 (+)NCBI
Rnor_6.0 Ensembl18291,780 - 325,377 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.018291,785 - 325,415 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.018337,401 - 371,027 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.418205,546 - 238,997 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.118205,641 - 237,603 (+)NCBI
Celera18210,086 - 243,538 (+)NCBICelera
Cytogenetic Map18p13NCBI
Mtmr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554986,462,626 - 6,528,380 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554986,462,706 - 6,528,297 (+)NCBIChiLan1.0ChiLan1.0
MTMR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X150,281,374 - 150,346,900 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX150,279,183 - 150,346,900 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X140,343,740 - 140,415,134 (+)NCBIMhudiblu_PPA_v0panPan3
MTMR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X118,936,865 - 118,999,630 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX118,937,470 - 118,999,920 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX104,316,768 - 104,380,906 (+)NCBI
ROS_Cfam_1.0X121,155,483 - 121,219,628 (+)NCBI
UMICH_Zoey_3.1X117,881,398 - 117,945,410 (+)NCBI
UNSW_CanFamBas_1.0X120,359,465 - 120,423,334 (+)NCBI
UU_Cfam_GSD_1.0X120,241,922 - 120,305,948 (+)NCBI
Mtmr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X116,483,467 - 116,562,518 (+)NCBI
SpeTri2.0NW_0049367141,693,919 - 1,772,974 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MTMR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX122,394,921 - 122,453,905 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X122,394,768 - 122,455,266 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X140,009,688 - 140,070,233 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MTMR1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X125,276,674 - 125,354,065 (+)NCBI
ChlSab1.1 EnsemblX125,281,758 - 125,354,377 (+)Ensembl
Mtmr1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249231,073,009 - 1,143,183 (+)NCBI

Position Markers
A005E38  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,933,214 - 149,933,344UniSTSGRCh37
Build 36X149,683,872 - 149,684,002RGDNCBI36
CeleraX150,180,762 - 150,180,892RGD
Cytogenetic MapXq28UniSTS
HuRefX138,792,668 - 138,792,798UniSTS
GeneMap99-GB4 RH MapX347.01UniSTS
Whitehead-RH MapX314.8UniSTS
RH98480  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,920,843 - 149,920,964UniSTSGRCh37
Build 36X149,671,501 - 149,671,622RGDNCBI36
CeleraX150,168,399 - 150,168,520RGD
Cytogenetic MapXq28UniSTS
HuRefX138,780,233 - 138,780,354UniSTS
GeneMap99-GB4 RH MapX345.35UniSTS
DXS1281  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,881,837 - 149,881,996UniSTSGRCh37
Build 36X149,632,495 - 149,632,654RGDNCBI36
CeleraX150,129,401 - 150,129,560RGD
Cytogenetic MapXq28UniSTS
HuRefX138,741,529 - 138,741,688UniSTS
RH68511  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,932,108 - 149,932,254UniSTSGRCh37
Build 36X149,682,766 - 149,682,912RGDNCBI36
CeleraX150,179,657 - 150,179,803RGD
Cytogenetic MapXq28UniSTS
HuRefX138,791,563 - 138,791,709UniSTS
GeneMap99-GB4 RH MapX347.43UniSTS
DXS7026E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,933,198 - 149,933,313UniSTSGRCh37
Build 36X149,683,856 - 149,683,971RGDNCBI36
CeleraX150,180,746 - 150,180,861RGD
Cytogenetic MapXq28UniSTS
HuRefX138,792,652 - 138,792,767UniSTS
GeneMap99-GB4 RH MapX347.01UniSTS
NCBI RH MapX733.4UniSTS
DXS7445E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,884,948 - 149,885,054UniSTSGRCh37
Build 36X149,635,606 - 149,635,712RGDNCBI36
CeleraX150,132,510 - 150,132,616RGD
Cytogenetic MapXq28UniSTS
HuRefX138,744,492 - 138,744,598UniSTS
GeneMap99-GB4 RH MapX347.01UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7364
Count of miRNA genes:1345
Interacting mature miRNAs:1722
Transcripts:ENST00000370387, ENST00000370390, ENST00000429965, ENST00000434699, ENST00000436701, ENST00000438018, ENST00000439546, ENST00000445323, ENST00000451863, ENST00000485376, ENST00000488357, ENST00000490316, ENST00000493480, ENST00000493995, ENST00000538506, ENST00000541925, ENST00000542156, ENST00000544228
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, Pita,Targetscan, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1943 1593 1153 224 1376 77 3699 1265 2603 229 1399 1576 163 1 737 2314 6 2
Low 496 1393 573 400 573 388 658 928 1131 189 61 37 11 467 474
Below cutoff 5 2 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001306144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001306145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA731515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA748701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF002223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF057354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ224979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR000536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF454938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U58032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000370387
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,735,399 - 150,751,289 (+)Ensembl
RefSeq Acc Id: ENST00000370390   ⟹   ENSP00000359417
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,693,374 - 150,765,103 (+)Ensembl
RefSeq Acc Id: ENST00000429965   ⟹   ENSP00000390736
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,692,983 - 150,730,122 (+)Ensembl
RefSeq Acc Id: ENST00000434699   ⟹   ENSP00000405946
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,693,009 - 150,730,120 (+)Ensembl
RefSeq Acc Id: ENST00000436701   ⟹   ENSP00000414925
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,699,208 - 150,727,765 (+)Ensembl
RefSeq Acc Id: ENST00000438018   ⟹   ENSP00000389884
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,699,208 - 150,727,765 (+)Ensembl
RefSeq Acc Id: ENST00000439546   ⟹   ENSP00000404599
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,692,978 - 150,730,129 (+)Ensembl
RefSeq Acc Id: ENST00000445323   ⟹   ENSP00000414178
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,693,396 - 150,765,108 (+)Ensembl
RefSeq Acc Id: ENST00000485376   ⟹   ENSP00000434105
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,693,366 - 150,765,102 (+)Ensembl
RefSeq Acc Id: ENST00000488357   ⟹   ENSP00000434514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,718,677 - 150,764,924 (+)Ensembl
RefSeq Acc Id: ENST00000490316   ⟹   ENSP00000436957
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,693,379 - 150,727,770 (+)Ensembl
RefSeq Acc Id: ENST00000493480
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,727,113 - 150,730,565 (+)Ensembl
RefSeq Acc Id: ENST00000493995   ⟹   ENSP00000431992
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,692,971 - 150,731,475 (+)Ensembl
RefSeq Acc Id: ENST00000542156   ⟹   ENSP00000445281
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,693,396 - 150,735,499 (+)Ensembl
RefSeq Acc Id: NM_001306144   ⟹   NP_001293073
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,693,396 - 150,765,108 (+)NCBI
CHM1_1X149,736,187 - 149,807,740 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001306145   ⟹   NP_001293074
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,693,396 - 150,735,701 (+)NCBI
CHM1_1X149,736,187 - 149,778,514 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353990   ⟹   NP_001340919
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,693,396 - 150,765,108 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353991   ⟹   NP_001340920
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,692,962 - 150,765,103 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353992   ⟹   NP_001340921
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,692,962 - 150,765,103 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353993   ⟹   NP_001340922
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,692,962 - 150,765,103 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353994   ⟹   NP_001340923
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,692,962 - 150,765,103 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353995   ⟹   NP_001340924
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,711,755 - 150,765,103 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353996   ⟹   NP_001340925
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,711,755 - 150,765,103 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003828   ⟹   NP_003819
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,693,396 - 150,765,059 (+)NCBI
GRCh37X149,861,837 - 149,933,575 (+)NCBI
Build 36X149,612,527 - 149,684,233 (+)NCBI Archive
CeleraX150,109,440 - 150,181,123 (+)RGD
HuRefX138,746,677 - 138,793,029 (+)RGD
CHM1_1X149,736,187 - 149,807,919 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148676
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,693,396 - 150,765,059 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274765   ⟹   XP_005274822
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,693,402 - 150,764,925 (+)NCBI
GRCh37X149,861,837 - 149,933,575 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274766   ⟹   XP_005274823
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,693,403 - 150,764,925 (+)NCBI
GRCh37X149,861,837 - 149,933,575 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724855   ⟹   XP_006724918
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,693,364 - 150,764,925 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531210   ⟹   XP_011529512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,693,400 - 150,736,588 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029920   ⟹   XP_016885409
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,693,402 - 150,752,512 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029921   ⟹   XP_016885410
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,699,207 - 150,764,925 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029923   ⟹   XP_016885412
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,699,219 - 150,764,925 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029924   ⟹   XP_016885413
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,693,384 - 150,736,588 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755740
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,693,364 - 150,764,925 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001293073 (Get FASTA)   NCBI Sequence Viewer  
  NP_001293074 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340919 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340920 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340921 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340922 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340923 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340924 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340925 (Get FASTA)   NCBI Sequence Viewer  
  NP_003819 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274822 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274823 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724918 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529512 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885409 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885410 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885412 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885413 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC79117 (Get FASTA)   NCBI Sequence Viewer  
  AAD40368 (Get FASTA)   NCBI Sequence Viewer  
  AAH32947 (Get FASTA)   NCBI Sequence Viewer  
  BAG50981 (Get FASTA)   NCBI Sequence Viewer  
  BAH12171 (Get FASTA)   NCBI Sequence Viewer  
  CAA12271 (Get FASTA)   NCBI Sequence Viewer  
  EAW99381 (Get FASTA)   NCBI Sequence Viewer  
  EAW99382 (Get FASTA)   NCBI Sequence Viewer  
  EAW99383 (Get FASTA)   NCBI Sequence Viewer  
  EAW99384 (Get FASTA)   NCBI Sequence Viewer  
  EAW99385 (Get FASTA)   NCBI Sequence Viewer  
  EAW99386 (Get FASTA)   NCBI Sequence Viewer  
  EAW99387 (Get FASTA)   NCBI Sequence Viewer  
  EAW99388 (Get FASTA)   NCBI Sequence Viewer  
  Q13613 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_003819   ⟸   NM_003828
- Peptide Label: isoform 2
- UniProtKB: Q13613 (UniProtKB/Swiss-Prot),   Q8NEC6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274822   ⟸   XM_005274765
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005274823   ⟸   XM_005274766
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006724918   ⟸   XM_006724855
- Peptide Label: isoform X3
- UniProtKB: Q13613 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529512   ⟸   XM_011531210
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: NP_001293073   ⟸   NM_001306144
- Peptide Label: isoform 1
- UniProtKB: F8WA39 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001293074   ⟸   NM_001306145
- Peptide Label: isoform 3
- UniProtKB: Q8NEC6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885413   ⟸   XM_017029924
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016885409   ⟸   XM_017029920
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016885410   ⟸   XM_017029921
- Peptide Label: isoform X5
- UniProtKB: B7Z3D5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885412   ⟸   XM_017029923
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001340921   ⟸   NM_001353992
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001340920   ⟸   NM_001353991
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001340923   ⟸   NM_001353994
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001340922   ⟸   NM_001353993
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001340919   ⟸   NM_001353990
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001340924   ⟸   NM_001353995
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001340925   ⟸   NM_001353996
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: ENSP00000359417   ⟸   ENST00000370390
RefSeq Acc Id: ENSP00000389884   ⟸   ENST00000438018
RefSeq Acc Id: ENSP00000445281   ⟸   ENST00000542156
RefSeq Acc Id: ENSP00000404599   ⟸   ENST00000439546
RefSeq Acc Id: ENSP00000436957   ⟸   ENST00000490316
RefSeq Acc Id: ENSP00000431992   ⟸   ENST00000493995
RefSeq Acc Id: ENSP00000390736   ⟸   ENST00000429965
RefSeq Acc Id: ENSP00000414178   ⟸   ENST00000445323
RefSeq Acc Id: ENSP00000434105   ⟸   ENST00000485376
RefSeq Acc Id: ENSP00000405946   ⟸   ENST00000434699
RefSeq Acc Id: ENSP00000434514   ⟸   ENST00000488357
RefSeq Acc Id: ENSP00000414925   ⟸   ENST00000436701
Promoters
RGD ID:6809064
Promoter ID:HG_KWN:68412
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000060851,   OTTHUMT00000060863,   UC004FEG.1,   UC004FEH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X149,611,826 - 149,612,997 (+)MPROMDB
RGD ID:13628326
Promoter ID:EPDNEW_H29438
Type:initiation region
Name:MTMR1_1
Description:myotubularin related protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,693,396 - 150,693,456EPDNEW

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 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
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 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)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)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 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:150449408-150750615)x3 copy number gain See cases [RCV000054287] ChrX:150449408..150750615 [GRCh38]
ChrX:149617674..149782550 [GRCh37]
ChrX:149368332..149669745 [NCBI36]
ChrX:Xq28
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
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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-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 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
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 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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-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 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 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 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:150574214-150838596)x2 copy number gain See cases [RCV000141404] ChrX:150574214..150838596 [GRCh38]
ChrX:149742664..150007069 [GRCh37]
ChrX:149493322..149757727 [NCBI36]
ChrX:Xq28
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-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
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: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:71267-155224766)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 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
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 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
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-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:149535674-149896019)x3 copy number gain not provided [RCV000684733] ChrX:149535674..149896019 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:149913184-149933341)x0 copy number loss not provided [RCV000753902] ChrX:149913184..149933341 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:149917987-149931106)x0 copy number loss not provided [RCV000753903] ChrX:149917987..149931106 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:149838580-150125188)x2 copy number gain not provided [RCV000848881] ChrX:149838580..150125188 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_149761067)_(150573540_?)dup duplication Severe X-linked myotubular myopathy [RCV001031813] ChrX:149761067..150573540 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
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 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_001306144.3(MTMR1):c.1081-4G>A single nucleotide variant not provided [RCV000957472] ChrX:150736591 [GRCh38]
ChrX:149905063 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq28(chrX:149702307-149971697)x3 copy number gain not provided [RCV001258417] ChrX:149702307..149971697 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:149747506-150037141)x3 copy number gain not provided [RCV001260063] ChrX:149747506..150037141 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7449 AgrOrtholog
COSMIC MTMR1 COSMIC
Ensembl Genes ENSG00000063601 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000359417 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000389884 UniProtKB/TrEMBL
  ENSP00000390736 UniProtKB/TrEMBL
  ENSP00000404599 UniProtKB/TrEMBL
  ENSP00000405946 UniProtKB/TrEMBL
  ENSP00000414178 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000414925 UniProtKB/TrEMBL
  ENSP00000431992 UniProtKB/TrEMBL
  ENSP00000434105 UniProtKB/Swiss-Prot
  ENSP00000434514 UniProtKB/TrEMBL
  ENSP00000436957 UniProtKB/TrEMBL
  ENSP00000445281 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000370390 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000429965 UniProtKB/TrEMBL
  ENST00000434699 UniProtKB/TrEMBL
  ENST00000436701 UniProtKB/TrEMBL
  ENST00000438018 UniProtKB/TrEMBL
  ENST00000439546 UniProtKB/TrEMBL
  ENST00000445323 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000485376 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000488357 UniProtKB/TrEMBL
  ENST00000490316 UniProtKB/TrEMBL
  ENST00000493995 UniProtKB/TrEMBL
  ENST00000542156 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000063601 GTEx
HGNC ID HGNC:7449 ENTREZGENE
Human Proteome Map MTMR1 Human Proteome Map
InterPro GRAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MTMR1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MTMR1_PH-GRAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myotubularin-like_Pase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myotubularin_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot-tyrosine_phosphatase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8776 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8776 ENTREZGENE
OMIM 300171 OMIM
PANTHER PTHR10807 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10807:SF40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GRAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myotub-related UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31252 PharmGKB
PROSITE PPASE_MYOTUBULARIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART GRAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPc_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52799 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7Z3D5 ENTREZGENE, UniProtKB/TrEMBL
  E9PIH9_HUMAN UniProtKB/TrEMBL
  E9PPP8_HUMAN UniProtKB/TrEMBL
  F8W764_HUMAN UniProtKB/TrEMBL
  F8W8S8_HUMAN UniProtKB/TrEMBL
  F8WA39 ENTREZGENE, UniProtKB/TrEMBL
  H0YDX3_HUMAN UniProtKB/TrEMBL
  H7BZJ1_HUMAN UniProtKB/TrEMBL
  H7C406_HUMAN UniProtKB/TrEMBL
  MTMR1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8NEC6 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A0A024RC07 UniProtKB/Swiss-Prot
  Q9UBX6 UniProtKB/Swiss-Prot
  Q9UEM0 UniProtKB/Swiss-Prot
  Q9UQD5 UniProtKB/Swiss-Prot