PQBP1 (polyglutamine binding protein 1) - Rat Genome Database

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Gene: PQBP1 (polyglutamine binding protein 1) Homo sapiens
Analyze
Symbol: PQBP1
Name: polyglutamine binding protein 1
RGD ID: 1604644
HGNC Page HGNC
Description: Exhibits double-stranded DNA binding activity and ribonucleoprotein complex binding activity. Involved in several processes, including cellular response to exogenous dsRNA; regulation of defense response; and regulation of gene expression. Localizes to nuclear speck. Implicated in Renpenning syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 38 kDa nuclear protein containing a WW domain; mental retardation, X-linked 2 (non-dysmorphic); mental retardation, X-linked 55; MRX2; MRX55; MRXS3; MRXS8; NPW38; nuclear protein containing WW domain 38 kD; polyglutamine tract-binding protein 1; polyglutamine-binding protein 1; PQBP-1; Renpenning syndrome 1; RENS1; SHS
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 EnsemblX48,890,197 - 48,903,143 (+)EnsemblGRCh38hg38GRCh38
GRCh38X48,897,862 - 48,903,143 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,755,213 - 48,760,420 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,640,139 - 48,645,364 (+)NCBINCBI36hg18NCBI36
CeleraX52,903,108 - 52,908,335 (-)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,411,224 - 46,416,455 (+)NCBIHuRef
CHM1_1X48,786,337 - 48,791,564 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Human Phenotype
Anal atresia  (IAGP)
Anxiety  (IAGP)
Arachnodactyly  (IAGP)
Atrial septal defect  (IAGP)
Blindness  (IAGP)
Brachycephaly  (IAGP)
Brittle hair  (IAGP)
Bulbous nose  (IAGP)
Camptodactyly  (IAGP)
Cataract  (IAGP)
Cerebral atrophy  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coloboma  (IAGP)
Cupped ear  (IAGP)
Death in childhood  (IAGP)
Death in infancy  (IAGP)
Decreased body weight  (IAGP)
Decreased testicular size  (IAGP)
Dry hair  (IAGP)
Epicanthus  (IAGP)
Frontal balding  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
High palate  (IAGP)
Hypermetropia  (IAGP)
Hyperreflexia  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypospadias  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, severe  (IAGP)
Joint contracture of the hand  (IAGP)
Long face  (IAGP)
Low hanging columella  (IAGP)
Macrodontia  (IAGP)
Macroglossia  (IAGP)
Macrotia  (IAGP)
Malar flattening  (IAGP)
Mandibular prognathia  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Nail dystrophy  (IAGP)
Narrow face  (IAGP)
Narrow foot  (IAGP)
Narrow mouth  (IAGP)
Nasal speech  (IAGP)
Pectus excavatum  (IAGP)
Pes cavus  (IAGP)
Phimosis  (IAGP)
Poor suck  (IAGP)
Protruding ear  (IAGP)
Renal hypoplasia  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Situs inversus totalis  (IAGP)
Small for gestational age  (IAGP)
Sparse hair  (IAGP)
Sparse lateral eyebrow  (IAGP)
Spastic diplegia  (IAGP)
Spasticity  (IAGP)
Strabismus  (IAGP)
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal  (IAGP)
Telecanthus  (IAGP)
Tetralogy of Fallot  (IAGP)
Thin upper lip vermilion  (IAGP)
Triangular face  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventricular septal defect  (IAGP)
Wide nasal bridge  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:1605216   PMID:3177465   PMID:7211958   PMID:9545405   PMID:9599645   PMID:9875212   PMID:10198427   PMID:10332029   PMID:10593949   PMID:10873650   PMID:11054566   PMID:11163963  
PMID:12062018   PMID:12477932   PMID:14634649   PMID:15024694   PMID:15146197   PMID:15355434   PMID:15489334   PMID:15635413   PMID:15782410   PMID:16055720   PMID:16104847   PMID:16169070  
PMID:16493439   PMID:16713569   PMID:17033686   PMID:17332742   PMID:18029348   PMID:18599155   PMID:19119319   PMID:19366705   PMID:19377476   PMID:19847789   PMID:20211142   PMID:20307692  
PMID:20348541   PMID:20410308   PMID:20886605   PMID:20950397   PMID:21204222   PMID:21267006   PMID:21315190   PMID:21832049   PMID:21873635   PMID:21933836   PMID:22365833   PMID:22889411  
PMID:22901698   PMID:22939629   PMID:23512658   PMID:24711643   PMID:24781215   PMID:24999758   PMID:25416956   PMID:26046437   PMID:26288249   PMID:26344197   PMID:26496610   PMID:26687479  
PMID:26871637   PMID:27173435   PMID:27314904   PMID:27456546   PMID:27634302   PMID:27880917   PMID:28073926   PMID:28302793   PMID:28514442   PMID:28515276   PMID:29128334   PMID:29298432  
PMID:29395067   PMID:29568061   PMID:29807326   PMID:30244542   PMID:30344098   PMID:30804502   PMID:30951824   PMID:31239290   PMID:31527615   PMID:31718390   PMID:31840915   PMID:31840929  
PMID:31940111   PMID:32041777   PMID:32296183   PMID:32416067   PMID:32694731   PMID:32814053   PMID:33662272   PMID:33668121  


Genomics

Comparative Map Data
PQBP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX48,890,197 - 48,903,143 (+)EnsemblGRCh38hg38GRCh38
GRCh38X48,897,862 - 48,903,143 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,755,213 - 48,760,420 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,640,139 - 48,645,364 (+)NCBINCBI36hg18NCBI36
CeleraX52,903,108 - 52,908,335 (-)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,411,224 - 46,416,455 (+)NCBIHuRef
CHM1_1X48,786,337 - 48,791,564 (+)NCBICHM1_1
Pqbp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X7,760,758 - 7,765,508 (-)NCBIGRCm39mm39
GRCm39 EnsemblX7,760,758 - 7,765,508 (-)Ensembl
GRCm38X7,894,519 - 7,899,269 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX7,894,519 - 7,899,269 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X7,471,649 - 7,476,354 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X4,142,378 - 4,147,084 (-)NCBImm8
MGSCv36X7,051,482 - 7,056,187 (-)NCBImm8
CeleraX3,570,308 - 3,575,379 (+)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX3.56NCBI
Pqbp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X14,603,516 - 14,608,091 (+)NCBI
Rnor_6.0 EnsemblX15,348,138 - 15,453,130 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X15,448,570 - 15,453,130 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X16,229,838 - 16,234,365 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X26,638,460 - 26,642,640 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX14,688,668 - 14,692,848 (+)NCBICelera
Cytogenetic MapXq12NCBI
Pqbp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955543430,853 - 434,205 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955543430,324 - 434,205 (+)NCBIChiLan1.0ChiLan1.0
PQBP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X49,046,351 - 49,058,587 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX49,053,030 - 49,058,585 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X41,188,244 - 41,200,312 (+)NCBIMhudiblu_PPA_v0panPan3
PQBP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X42,056,660 - 42,060,508 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX42,056,708 - 42,121,818 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX16,432,105 - 16,435,949 (+)NCBI
ROS_Cfam_1.0X42,192,893 - 42,196,738 (+)NCBI
UMICH_Zoey_3.1X42,179,100 - 42,182,944 (+)NCBI
UNSW_CanFamBas_1.0X42,167,381 - 42,171,226 (+)NCBI
UU_Cfam_GSD_1.0X42,261,589 - 42,265,433 (+)NCBI
Pqbp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X34,585,253 - 34,589,621 (+)NCBI
SpeTri2.0NW_004936721825,171 - 830,010 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PQBP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX42,975,410 - 42,981,725 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X42,976,086 - 42,981,732 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X47,831,705 - 47,837,374 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PQBP1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X46,014,664 - 46,020,204 (+)NCBI
ChlSab1.1 EnsemblX46,015,250 - 46,023,988 (+)Ensembl
Vero_WHO_p1.0NW_02366607611,499,628 - 11,505,316 (+)NCBI
Pqbp1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624893680,929 - 684,251 (+)NCBI

Position Markers
DXS1068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X38,908,227 - 38,908,332UniSTSGRCh37
GRCh37X38,908,117 - 38,908,364UniSTSGRCh37
GRCh37X38,908,118 - 38,908,368UniSTSGRCh37
Build 36X38,793,062 - 38,793,312RGDNCBI36
CeleraX43,045,867 - 43,045,972UniSTS
CeleraX43,045,757 - 43,046,004UniSTS
CeleraX43,045,758 - 43,046,008RGD
HuRefX36,651,042 - 36,651,147UniSTS
HuRefX36,650,932 - 36,651,179UniSTS
HuRefX36,650,933 - 36,651,183UniSTS
Marshfield Genetic MapX37.33RGD
Genethon Genetic MapX56.2UniSTS
TNG Radiation Hybrid MapX10368.0UniSTS
deCODE Assembly MapX60.25UniSTS
Stanford-G3 RH MapX1640.0UniSTS
GeneMap99-GB4 RH MapX117.66UniSTS
Whitehead-RH MapX37.8UniSTS
NCBI RH MapX124.0UniSTS
GeneMap99-G3 RH MapX840.0UniSTS
STS-R01143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,760,557 - 48,760,706UniSTSGRCh37
Build 36X48,645,501 - 48,645,650RGDNCBI36
CeleraX52,902,824 - 52,902,973RGD
Cytogenetic MapXp11.23UniSTS
Cytogenetic MapXp11.23-p11.22UniSTS
HuRefX46,416,590 - 46,416,739UniSTS
GeneMap99-GB4 RH MapX140.77UniSTS
NCBI RH MapX268.1UniSTS
PQBP1__5573  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,759,655 - 48,760,404UniSTSGRCh37
Build 36X48,644,599 - 48,645,348RGDNCBI36
CeleraX52,903,126 - 52,903,875RGD
HuRefX46,415,688 - 46,416,437UniSTS
D11S2593  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.23UniSTS
D11S2591  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.23UniSTS
D11S2846  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.23UniSTS
D11S2920  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.23UniSTS
D11S2618  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.23UniSTS
DXS1039  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.2-q12UniSTS
Cytogenetic MapXp11.23UniSTS
Marshfield Genetic MapX50.33UniSTS
Genethon Genetic MapX82.6UniSTS
deCODE Assembly MapX75.79UniSTS
GeneMap99-GB4 RH MapX145.05UniSTS
NCBI RH MapX197.4UniSTS
DXS1068  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11UniSTS
Cytogenetic MapXp11.23UniSTS
Marshfield Genetic MapX37.33UniSTS
Genethon Genetic MapX56.2UniSTS
deCODE Assembly MapX60.25UniSTS
GeneMap99-GB4 RH MapX117.66UniSTS
Whitehead-RH MapX37.8UniSTS
NCBI RH MapX124.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5242
Count of miRNA genes:754
Interacting mature miRNAs:876
Transcripts:ENST00000218224, ENST00000247140, ENST00000376548, ENST00000376563, ENST00000376566, ENST00000396763, ENST00000443648, ENST00000447146, ENST00000456306, ENST00000463529, ENST00000465859, ENST00000470059, ENST00000470062, ENST00000472742, ENST00000473764, ENST00000474671, ENST00000477997, ENST00000486150
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system appendage entire extraembryonic component pharyngeal arch
High
Medium 224 40 306 236 768 239 303 72 190 309 348 382 13 1 2 6 2
Low
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_015968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001032381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001032382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001032383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001032384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001167989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001167990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001167992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_144495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB016533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB041832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB041833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB041834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB041835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB041836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC233300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF207550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ973593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ973594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ973595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ973596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ973597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ973598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ973599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ973600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ973601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ973602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ973603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ973604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ973605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ973606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ973607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE385548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE396796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI818141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX362311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX369697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD051018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD365745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN292761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN292769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS691419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000218224   ⟹   ENSP00000218224
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,898,253 - 48,903,142 (+)Ensembl
RefSeq Acc Id: ENST00000247140   ⟹   ENSP00000247140
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,897,940 - 48,903,142 (+)Ensembl
RefSeq Acc Id: ENST00000376563   ⟹   ENSP00000365747
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,897,912 - 48,903,142 (+)Ensembl
RefSeq Acc Id: ENST00000376566   ⟹   ENSP00000365750
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,897,912 - 48,903,142 (+)Ensembl
RefSeq Acc Id: ENST00000396763   ⟹   ENSP00000379985
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,898,256 - 48,903,142 (+)Ensembl
RefSeq Acc Id: ENST00000443648   ⟹   ENSP00000414861
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,898,260 - 48,902,793 (+)Ensembl
RefSeq Acc Id: ENST00000447146   ⟹   ENSP00000391759
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,897,931 - 48,903,136 (+)Ensembl
RefSeq Acc Id: ENST00000456306   ⟹   ENSP00000393013
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,898,318 - 48,903,056 (+)Ensembl
RefSeq Acc Id: ENST00000463529
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,898,510 - 48,903,084 (+)Ensembl
RefSeq Acc Id: ENST00000465859
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,898,510 - 48,903,084 (+)Ensembl
RefSeq Acc Id: ENST00000470059
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,898,510 - 48,903,084 (+)Ensembl
RefSeq Acc Id: ENST00000470062
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,897,996 - 48,903,098 (+)Ensembl
RefSeq Acc Id: ENST00000472742
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,897,943 - 48,902,793 (+)Ensembl
RefSeq Acc Id: ENST00000473764
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,897,938 - 48,903,142 (+)Ensembl
RefSeq Acc Id: ENST00000474671
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,898,041 - 48,903,143 (+)Ensembl
RefSeq Acc Id: ENST00000477997
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,897,952 - 48,903,143 (+)Ensembl
RefSeq Acc Id: ENST00000486150
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,897,946 - 48,901,606 (+)Ensembl
RefSeq Acc Id: ENST00000651767   ⟹   ENSP00000498362
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,890,197 - 48,903,105 (+)Ensembl
RefSeq Acc Id: NM_001032381   ⟹   NP_001027553
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,897,930 - 48,903,143 (+)NCBI
GRCh37X48,755,160 - 48,760,422 (+)NCBI
Build 36X48,640,139 - 48,645,364 (+)NCBI Archive
HuRefX46,411,224 - 46,416,455 (+)ENTREZGENE
CHM1_1X48,786,337 - 48,791,562 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001032382   ⟹   NP_001027554
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,897,930 - 48,903,143 (+)NCBI
GRCh37X48,755,160 - 48,760,422 (+)NCBI
Build 36X48,640,139 - 48,645,364 (+)NCBI Archive
HuRefX46,411,224 - 46,416,455 (+)ENTREZGENE
CHM1_1X48,786,337 - 48,791,562 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001032383   ⟹   NP_001027555
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,897,930 - 48,903,143 (+)NCBI
GRCh37X48,755,160 - 48,760,422 (+)NCBI
Build 36X48,640,139 - 48,645,364 (+)NCBI Archive
HuRefX46,411,224 - 46,416,455 (+)ENTREZGENE
CHM1_1X48,786,337 - 48,791,562 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001032384   ⟹   NP_001027556
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,898,256 - 48,903,143 (+)NCBI
GRCh37X48,755,160 - 48,760,422 (+)NCBI
Build 36X48,640,483 - 48,645,364 (+)NCBI Archive
HuRefX46,411,224 - 46,416,455 (+)ENTREZGENE
CHM1_1X48,786,681 - 48,791,562 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001167989   ⟹   NP_001161461
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,897,930 - 48,903,143 (+)NCBI
GRCh37X48,755,160 - 48,760,422 (+)NCBI
HuRefX46,411,224 - 46,416,455 (+)ENTREZGENE
CHM1_1X48,786,337 - 48,791,564 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001167990   ⟹   NP_001161462
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,897,930 - 48,903,143 (+)NCBI
GRCh37X48,755,160 - 48,760,422 (+)NCBI
HuRefX46,411,224 - 46,416,455 (+)ENTREZGENE
CHM1_1X48,786,355 - 48,791,562 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001167992   ⟹   NP_001161464
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,898,492 - 48,903,143 (+)NCBI
GRCh37X48,755,160 - 48,760,422 (+)NCBI
HuRefX46,411,224 - 46,416,455 (+)ENTREZGENE
CHM1_1X48,786,917 - 48,791,562 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005710   ⟹   NP_005701
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,898,256 - 48,903,143 (+)NCBI
GRCh37X48,755,160 - 48,760,422 (+)NCBI
Build 36X48,640,483 - 48,645,364 (+)NCBI Archive
HuRefX46,411,224 - 46,416,455 (+)ENTREZGENE
CHM1_1X48,786,681 - 48,791,562 (+)NCBI
Sequence:
RefSeq Acc Id: NM_144495   ⟹   NP_652766
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,897,930 - 48,903,143 (+)NCBI
GRCh37X48,755,160 - 48,760,422 (+)NCBI
HuRefX46,411,224 - 46,416,455 (+)ENTREZGENE
CHM1_1X48,786,337 - 48,791,562 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005272571   ⟹   XP_005272628
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,897,917 - 48,903,143 (+)NCBI
GRCh37X48,755,160 - 48,760,422 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005272572   ⟹   XP_005272629
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,897,921 - 48,903,143 (+)NCBI
GRCh37X48,755,160 - 48,760,422 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543884   ⟹   XP_011542186
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,898,110 - 48,903,143 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029207   ⟹   XP_016884696
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,897,862 - 48,903,143 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001027553 (Get FASTA)   NCBI Sequence Viewer  
  NP_001027554 (Get FASTA)   NCBI Sequence Viewer  
  NP_001027555 (Get FASTA)   NCBI Sequence Viewer  
  NP_001027556 (Get FASTA)   NCBI Sequence Viewer  
  NP_001161461 (Get FASTA)   NCBI Sequence Viewer  
  NP_001161462 (Get FASTA)   NCBI Sequence Viewer  
  NP_001161464 (Get FASTA)   NCBI Sequence Viewer  
  NP_005701 (Get FASTA)   NCBI Sequence Viewer  
  NP_652766 (Get FASTA)   NCBI Sequence Viewer  
  XP_005272628 (Get FASTA)   NCBI Sequence Viewer  
  XP_005272629 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542186 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884696 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH12358 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33958 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33959 (Get FASTA)   NCBI Sequence Viewer  
  BAA76400 (Get FASTA)   NCBI Sequence Viewer  
  BAB16702 (Get FASTA)   NCBI Sequence Viewer  
  BAB16703 (Get FASTA)   NCBI Sequence Viewer  
  BAB16704 (Get FASTA)   NCBI Sequence Viewer  
  BAB16705 (Get FASTA)   NCBI Sequence Viewer  
  BAB16706 (Get FASTA)   NCBI Sequence Viewer  
  BAB16707 (Get FASTA)   NCBI Sequence Viewer  
  BAB16708 (Get FASTA)   NCBI Sequence Viewer  
  BAB16709 (Get FASTA)   NCBI Sequence Viewer  
  CAA06750 (Get FASTA)   NCBI Sequence Viewer  
  CAB44309 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00537 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00538 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00539 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00540 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00541 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00542 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00543 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00544 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00545 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00546 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00547 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00548 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00549 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00550 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00551 (Get FASTA)   NCBI Sequence Viewer  
  CAP12212 (Get FASTA)   NCBI Sequence Viewer  
  EAW50735 (Get FASTA)   NCBI Sequence Viewer  
  EAW50736 (Get FASTA)   NCBI Sequence Viewer  
  EAW50737 (Get FASTA)   NCBI Sequence Viewer  
  EAW50738 (Get FASTA)   NCBI Sequence Viewer  
  O60828 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001161461   ⟸   NM_001167989
- Peptide Label: isoform 4
- UniProtKB: O60828 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001027555   ⟸   NM_001032383
- Peptide Label: isoform 1
- UniProtKB: O60828 (UniProtKB/Swiss-Prot),   A0A0S2Z4V5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001027554   ⟸   NM_001032382
- Peptide Label: isoform 1
- UniProtKB: O60828 (UniProtKB/Swiss-Prot),   A0A0S2Z4V5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_652766   ⟸   NM_144495
- Peptide Label: isoform 3
- UniProtKB: O60828 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001027553   ⟸   NM_001032381
- Peptide Label: isoform 1
- UniProtKB: O60828 (UniProtKB/Swiss-Prot),   A0A0S2Z4V5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001161462   ⟸   NM_001167990
- Peptide Label: isoform 5
- UniProtKB: O60828 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_005701   ⟸   NM_005710
- Peptide Label: isoform 1
- UniProtKB: O60828 (UniProtKB/Swiss-Prot),   A0A0S2Z4V5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001027556   ⟸   NM_001032384
- Peptide Label: isoform 1
- UniProtKB: O60828 (UniProtKB/Swiss-Prot),   A0A0S2Z4V5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001161464   ⟸   NM_001167992
- Peptide Label: isoform 6
- UniProtKB: O60828 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005272629   ⟸   XM_005272572
- Peptide Label: isoform X3
- UniProtKB: O60828 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005272628   ⟸   XM_005272571
- Peptide Label: isoform X2
- UniProtKB: O60828 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542186   ⟸   XM_011543884
- Peptide Label: isoform X1
- UniProtKB: O60828 (UniProtKB/Swiss-Prot),   A0A0S2Z4V5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884696   ⟸   XM_017029207
- Peptide Label: isoform X2
- UniProtKB: O60828 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000218224   ⟸   ENST00000218224
RefSeq Acc Id: ENSP00000498362   ⟸   ENST00000651767
RefSeq Acc Id: ENSP00000365747   ⟸   ENST00000376563
RefSeq Acc Id: ENSP00000365750   ⟸   ENST00000376566
RefSeq Acc Id: ENSP00000393013   ⟸   ENST00000456306
RefSeq Acc Id: ENSP00000414861   ⟸   ENST00000443648
RefSeq Acc Id: ENSP00000247140   ⟸   ENST00000247140
RefSeq Acc Id: ENSP00000391759   ⟸   ENST00000447146
RefSeq Acc Id: ENSP00000379985   ⟸   ENST00000396763
Protein Domains
WW

Promoters
RGD ID:6808973
Promoter ID:HG_KWN:66713
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:ENST00000247140,   ENST00000376548,   ENST00000376564,   NM_001032381,   NM_001032382,   NM_001032383,   NM_001032384,   NM_001167989,   NM_001167990,   NM_144495,   OTTHUMT00000060780,   OTTHUMT00000060783,   OTTHUMT00000060785,   OTTHUMT00000060786,   OTTHUMT00000060787,   OTTHUMT00000060789,   UC004DLD.1,   UC004DLJ.1,   UC004DLK.1,   UC004DLL.1,   UC004DLM.1,   UC004DLN.1,   UC010NIH.1,   UC010NII.1,   UC010NIJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,639,944 - 48,640,444 (+)MPROMDB
RGD ID:6852894
Promoter ID:EP74265
Type:initiation region
Name:HS_PQBP1
Description:Polyglutamine binding protein 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,640,187 - 48,640,247EPD
RGD ID:13605252
Promoter ID:EPDNEW_H28811
Type:initiation region
Name:PQBP1_1
Description:polyglutamine binding 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
GRCh38X48,897,930 - 48,897,990EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_144495.2(PQBP1):c.293-341AG[7] microsatellite Renpenning syndrome 1 [RCV000011726]|not provided [RCV001008093] ChrX:48902390..48902391 [GRCh38]
ChrX:48759667..48759668 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_144495.2(PQBP1):c.293-341AG[4] microsatellite Hyperactivity [RCV000414864]|Inborn genetic diseases [RCV000623728]|Intellectual disability [RCV000850214]|Renpenning syndrome 1 [RCV000011727]|not provided [RCV000254782] ChrX:48902391..48902394 [GRCh38]
ChrX:48759668..48759671 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
NM_005710.2(PQBP1):c.451_452AG[5] (p.Glu154fs) microsatellite Renpenning syndrome 1 [RCV000011728] ChrX:48902391..48902392 [GRCh38]
ChrX:48759668..48759669 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_005710.2(PQBP1):c.640dup (p.Arg214fs) duplication Renpenning syndrome 1 [RCV000011729]|not provided [RCV000599325] ChrX:48902788..48902789 [GRCh38]
ChrX:48760065..48760066 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_005710.2(PQBP1):c.547_569del (p.Glu183fs) deletion Renpenning syndrome 1 [RCV000011730] ChrX:48902484..48902506 [GRCh38]
ChrX:48759761..48759783 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_005710.2(PQBP1):c.334_354del (p.Gly113_Arg119del) deletion Renpenning syndrome 1 [RCV000011731]|not provided [RCV000870932]|not specified [RCV000153765] ChrX:48902257..48902277 [GRCh38]
ChrX:48759534..48759554 [GRCh37]
ChrX:Xp11.23
pathogenic|benign|likely benign
NM_005710.2(PQBP1):c.194A>G (p.Tyr65Cys) single nucleotide variant Renpenning syndrome 1 [RCV000011732] ChrX:48901944 [GRCh38]
ChrX:48759221 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)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:10679-156013167)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 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:47859417-52789530)x3 copy number gain See cases [RCV000052390] ChrX:47859417..52789530 [GRCh38]
ChrX:47835880..52818575 [GRCh37]
ChrX:47603760..52835300 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2 copy number gain See cases [RCV000051992] ChrX:48344666..52664916 [GRCh38]
ChrX:48204101..52616581 [GRCh37]
ChrX:48089045..52710691 [NCBI36]
ChrX:Xp11.23-11.22
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 Xp22.33-11.21(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-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:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23(chrX:48612125-49292405)x2 copy number gain See cases [RCV000054185] ChrX:48612125..49292405 [GRCh38]
ChrX:48510591..49148873 [GRCh37]
ChrX:48355457..49035817 [NCBI36]
ChrX:Xp11.23
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_005710.2(PQBP1):c.*6C>T single nucleotide variant not provided [RCV000723652]|not specified [RCV000081325] ChrX:48903090 [GRCh38]
ChrX:48760367 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005710.2(PQBP1):c.180-3C>T single nucleotide variant History of neurodevelopmental disorder [RCV000715350]|Renpenning syndrome 1 [RCV000407634]|not provided [RCV000712843]|not specified [RCV000081326] ChrX:48901927 [GRCh38]
ChrX:48759204 [GRCh37]
ChrX:Xp11.23
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_005710.2(PQBP1):c.264G>A (p.Ser88=) single nucleotide variant Renpenning syndrome 1 [RCV000304418]|not provided [RCV000875524]|not specified [RCV000081327] ChrX:48902014 [GRCh38]
ChrX:48759291 [GRCh37]
ChrX:Xp11.23
benign|likely benign|conflicting interpretations of pathogenicity|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
NM_001032382.2(PQBP1):c.313C>T (p.Arg105Trp) single nucleotide variant Renpenning syndrome 1 [RCV001293773] ChrX:48902253 [GRCh38]
ChrX:48759530 [GRCh37]
ChrX:Xp11.23
uncertain significance
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 Xp22.33-11.22(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: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)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 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 Xp22.33-11.23(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 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48022053-52664916)x3 copy number gain See cases [RCV000135801] ChrX:48022053..52664916 [GRCh38]
ChrX:47881447..52616581 [GRCh37]
ChrX:47766391..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-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 Xp11.23-11.22(chrX:48260861-52664916)x2 copy number gain See cases [RCV000136829] ChrX:48260861..52664916 [GRCh38]
ChrX:48120296..52616581 [GRCh37]
ChrX:48005240..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX: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 Xp22.33-11.23(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 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3 copy number gain See cases [RCV000138106] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52616581 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1 copy number loss See cases [RCV000138107] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52693966 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
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 Xp11.23-11.22(chrX:48386298-52664916)x2 copy number gain See cases [RCV000139185] ChrX:48386298..52664916 [GRCh38]
ChrX:48245740..52616581 [GRCh37]
ChrX:48130684..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(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)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 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 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 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_005710.2(PQBP1):c.563C>T (p.Pro188Leu) single nucleotide variant not provided [RCV000178251] ChrX:48902503 [GRCh38]
ChrX:48759780 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005710.2(PQBP1):c.288T>C (p.Asn96=) single nucleotide variant not specified [RCV000194773] ChrX:48902038 [GRCh38]
ChrX:48759315 [GRCh37]
ChrX:Xp11.23
uncertain significance
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 Xp11.23-11.22(chrX:48310313-52614698)x1 copy number loss See cases [RCV000203435] ChrX:48310313..52614698 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
NM_005710.2(PQBP1):c.731C>T (p.Pro244Leu) single nucleotide variant Intellectual disability [RCV000224749] ChrX:48903017 [GRCh38]
ChrX:48760294 [GRCh37]
ChrX:Xp11.23
likely 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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005710.2(PQBP1):c.643G>C (p.Gly215Arg) single nucleotide variant not provided [RCV000520651] ChrX:48902929 [GRCh38]
ChrX:48760206 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005710.2(PQBP1):c.-214A>G single nucleotide variant Renpenning syndrome 1 [RCV000284428] ChrX:48898296 [GRCh38]
ChrX:48755579 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005710.2(PQBP1):c.585C>T (p.Ser195=) single nucleotide variant Renpenning syndrome 1 [RCV000353522]|not provided [RCV000970007] ChrX:48902739 [GRCh38]
ChrX:48760016 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_005710.2(PQBP1):c.492G>T (p.Gly164=) single nucleotide variant not provided [RCV000366700] ChrX:48902432 [GRCh38]
ChrX:48759709 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005710.2(PQBP1):c.-87C>T single nucleotide variant Renpenning syndrome 1 [RCV000339483] ChrX:48898423 [GRCh38]
ChrX:48755706 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_005710.2(PQBP1):c.778C>T (p.Arg260Ter) single nucleotide variant not provided [RCV000578765] ChrX:48903064 [GRCh38]
ChrX:48760341 [GRCh37]
ChrX:Xp11.23
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_005710.2(PQBP1):c.450_453del (p.Asp150fs) deletion not provided [RCV000369467] ChrX:48902387..48902390 [GRCh38]
ChrX:48759664..48759667 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_005710.2(PQBP1):c.230C>T (p.Ser77Phe) single nucleotide variant not provided [RCV000337563] ChrX:48901980 [GRCh38]
ChrX:48759257 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_144495.2(PQBP1):c.292+291_292+311del deletion not specified [RCV000325662] ChrX:48902317..48902337 [GRCh38]
ChrX:48759594..48759614 [GRCh37]
ChrX:Xp11.23
likely benign|conflicting interpretations of pathogenicity
NM_005710.2(PQBP1):c.743del (p.Pro248fs) deletion Inborn genetic diseases [RCV000622601]|not provided [RCV000805542] ChrX:48903026 [GRCh38]
ChrX:48760303 [GRCh37]
ChrX:Xp11.23
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_005710.2(PQBP1):c.458G>A (p.Arg153Lys) single nucleotide variant Inborn genetic diseases [RCV000623968] ChrX:48902398 [GRCh38]
ChrX:48759675 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005710.2(PQBP1):c.746G>A (p.Gly249Glu) single nucleotide variant not specified [RCV000414352] ChrX:48903032 [GRCh38]
ChrX:48760309 [GRCh37]
ChrX:Xp11.23
uncertain significance
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 Xp11.23-11.22(chrX:48317353-51497588)x3 copy number gain See cases [RCV000449147] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(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 Xp11.23-11.22(chrX:48317353-51497588)x2 copy number gain See cases [RCV000447617] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
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
NM_005710.2(PQBP1):c.690C>T (p.Gly230=) single nucleotide variant not specified [RCV000441903] ChrX:48902976 [GRCh38]
ChrX:48760253 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005710.2(PQBP1):c.356G>A (p.Arg119His) single nucleotide variant not provided [RCV000762633]|not specified [RCV000422167] ChrX:48902296 [GRCh38]
ChrX:48759573 [GRCh37]
ChrX:Xp11.23
likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_005710.2(PQBP1):c.738_742del (p.Ser247fs) deletion not provided [RCV000483388] ChrX:48903022..48903026 [GRCh38]
ChrX:48760299..48760303 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_005710.2(PQBP1):c.641+1G>A single nucleotide variant not provided [RCV000485365] ChrX:48902796 [GRCh38]
ChrX:48760073 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_005710.2(PQBP1):c.637_640dup (p.Arg214fs) duplication not provided [RCV000479677] ChrX:48902788..48902789 [GRCh38]
ChrX:48760065..48760066 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_005710.2(PQBP1):c.623_624del (p.Ser208fs) deletion not provided [RCV000480353] ChrX:48902777..48902778 [GRCh38]
ChrX:48760054..48760055 [GRCh37]
ChrX:Xp11.23
likely 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-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005710.2(PQBP1):c.489C>T (p.Arg163=) single nucleotide variant not specified [RCV000502523] ChrX:48902429 [GRCh38]
ChrX:48759706 [GRCh37]
ChrX:Xp11.23
uncertain significance
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 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2 copy number gain See cases [RCV000511234] ChrX:46326268..48801984 [GRCh37]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_005710.2(PQBP1):c.265G>T (p.Ala89Ser) single nucleotide variant Inborn genetic diseases [RCV000624423] ChrX:48902015 [GRCh38]
ChrX:48759292 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005710.2(PQBP1):c.232C>T (p.Pro78Ser) single nucleotide variant Inborn genetic diseases [RCV000622607] ChrX:48901982 [GRCh38]
ChrX:48759259 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_005710.2(PQBP1):c.586C>T (p.Arg196Ter) single nucleotide variant Renpenning syndrome 1 [RCV000680077]|not provided [RCV000656312] ChrX:48902740 [GRCh38]
ChrX:48760017 [GRCh37]
ChrX:Xp11.23
pathogenic
NC_000023.10:g.(?_48542223)_(48768933_?)dup duplication SLC35A2-CDG [RCV000651314] ChrX:48542223..48768933 [GRCh37]
ChrX:Xp11.23
uncertain significance
NC_000023.10:g.(?_48755773)_(48935774_?)dup duplication SLC35A2-CDG [RCV000651315] ChrX:48755773..48935774 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3 copy number gain See cases [RCV000512224] ChrX:48224454..52813336 [GRCh37]
ChrX:Xp11.23-11.22
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 Xp11.23-11.22(chrX:48290189-52154997)x4 copy number gain See cases [RCV000512561] ChrX:48290189..52154997 [GRCh37]
ChrX:Xp11.23-11.22
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
NM_005710.2(PQBP1):c.73G>A (p.Glu25Lys) single nucleotide variant History of neurodevelopmental disorder [RCV000719309]|not provided [RCV000513560] ChrX:48901195 [GRCh38]
ChrX:48758472 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005710.2(PQBP1):c.397C>T (p.Arg133Trp) single nucleotide variant Renpenning syndrome 1 [RCV000660228] ChrX:48902337 [GRCh38]
ChrX:48759614 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005710.2(PQBP1):c.541C>T (p.Arg181Trp) single nucleotide variant Renpenning syndrome 1 [RCV000680076] ChrX:48902481 [GRCh38]
ChrX:48759758 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1 copy number loss not provided [RCV000684331] ChrX:48156672..52672728 [GRCh37]
ChrX:Xp11.23-11.22
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
NM_005710.2(PQBP1):c.635C>A (p.Ala212Asp) single nucleotide variant History of neurodevelopmental disorder [RCV000716915] ChrX:48902789 [GRCh38]
ChrX:48760066 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_005710.2(PQBP1):c.249C>T (p.Ser83=) single nucleotide variant History of neurodevelopmental disorder [RCV000719343] ChrX:48901999 [GRCh38]
ChrX:48759276 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005710.2(PQBP1):c.266C>T (p.Ala89Val) single nucleotide variant History of neurodevelopmental disorder [RCV000719764] ChrX:48902016 [GRCh38]
ChrX:48759293 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_005710.2(PQBP1):c.784A>G (p.Lys262Glu) single nucleotide variant History of neurodevelopmental disorder [RCV000721025]|Renpenning syndrome 1 [RCV001332661] ChrX:48903070 [GRCh38]
ChrX:48760347 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001032382.2(PQBP1):c.463C>T (p.Arg155Ter) single nucleotide variant Inborn genetic diseases [RCV001266466]|Renpenning syndrome 1 [RCV001007842] ChrX:48902403 [GRCh38]
ChrX:48759680 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_005710.2(PQBP1):c.633C>T (p.Asp211=) single nucleotide variant not provided [RCV000896446] ChrX:48902787 [GRCh38]
ChrX:48760064 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005710.2(PQBP1):c.293-4C>T single nucleotide variant not provided [RCV000977961] ChrX:48902229 [GRCh38]
ChrX:48759506 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) copy number gain not provided [RCV000767648] ChrX:43507300..48929622 [GRCh37]
ChrX:Xp11.3-11.23
pathogenic
NM_005710.2(PQBP1):c.292+6T>G single nucleotide variant not provided [RCV000828447] ChrX:48902048 [GRCh38]
ChrX:48759325 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_005710.2(PQBP1):c.-303G>T single nucleotide variant not provided [RCV000836849] ChrX:48898207 [GRCh38]
ChrX:48755490 [GRCh37]
ChrX:Xp11.23
likely benign
NM_005710.2(PQBP1):c.384C>T (p.His128=) single nucleotide variant not provided [RCV000828012] ChrX:48902324 [GRCh38]
ChrX:48759601 [GRCh37]
ChrX:Xp11.23
likely benign
NM_144495.2(PQBP1):c.437_439AGC[1] (p.Gln147del) microsatellite Microcephaly [RCV000790435] ChrX:48903007..48903009 [GRCh38]
ChrX:48760284..48760286 [GRCh37]
ChrX:Xp11.23
likely pathogenic
GRCh37/hg19 Xp11.23(chrX:48491182-48772769)x3 copy number gain not provided [RCV000845674] ChrX:48491182..48772769 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001032382.2(PQBP1):c.642-5G>A single nucleotide variant not provided [RCV001091018] ChrX:48902923 [GRCh38]
ChrX:48760200 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001032382.2(PQBP1):c.102C>T (p.Asp34=) single nucleotide variant Renpenning syndrome 1 [RCV001169150] ChrX:48901224 [GRCh38]
ChrX:48758501 [GRCh37]
ChrX:Xp11.23
benign
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NM_001032382.2(PQBP1):c.508del (p.Arg170fs) deletion not provided [RCV001008469] ChrX:48902447 [GRCh38]
ChrX:48759724 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001032382.2(PQBP1):c.623C>A (p.Ser208Ter) single nucleotide variant Renpenning syndrome 1 [RCV001197974] ChrX:48902777 [GRCh38]
ChrX:48760054 [GRCh37]
ChrX:Xp11.23
likely 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
GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2 copy number gain not provided [RCV000847795] ChrX:48224266..52744574 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_005710.2(PQBP1):c.597_598AG[1] (p.Glu200fs) microsatellite Renpenning syndrome 1 [RCV000995613] ChrX:48902751..48902752 [GRCh38]
ChrX:48760028..48760029 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001032382.2(PQBP1):c.*8G>A single nucleotide variant Renpenning syndrome 1 [RCV001166220] ChrX:48903092 [GRCh38]
ChrX:48760369 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001032382.2(PQBP1):c.700A>C (p.Thr234Pro) single nucleotide variant not provided [RCV001205938] ChrX:48902986 [GRCh38]
ChrX:48760263 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001032382.2(PQBP1):c.475C>T (p.Arg159Trp) single nucleotide variant Renpenning syndrome 1 [RCV001195804]|not provided [RCV001311070] ChrX:48902415 [GRCh38]
ChrX:48759692 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3 copy number gain not provided [RCV001007303] ChrX:48307437..50657313 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_001032382.2(PQBP1):c.240C>G (p.Asp80Glu) single nucleotide variant not provided [RCV001171605] ChrX:48901990 [GRCh38]
ChrX:48759267 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001032382.2(PQBP1):c.267C>T (p.Ala89=) single nucleotide variant Renpenning syndrome 1 [RCV001166217] ChrX:48902017 [GRCh38]
ChrX:48759294 [GRCh37]
ChrX:Xp11.23
benign
NM_001032382.2(PQBP1):c.642-9C>A single nucleotide variant Renpenning syndrome 1 [RCV001166218] ChrX:48902919 [GRCh38]
ChrX:48760196 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001032382.2(PQBP1):c.*3C>T single nucleotide variant Renpenning syndrome 1 [RCV001166219] ChrX:48903087 [GRCh38]
ChrX:48760364 [GRCh37]
ChrX:Xp11.23
benign
NM_001032382.2(PQBP1):c.180-306G>A single nucleotide variant Renpenning syndrome 1 [RCV001255611] ChrX:48901624 [GRCh38]
ChrX:48758901 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2 copy number gain not provided [RCV001258953] ChrX:48102202..52685635 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2 copy number gain not provided [RCV001258954] ChrX:48178413..52686510 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_001032382.2(PQBP1):c.727C>T (p.Arg243Trp) single nucleotide variant Renpenning syndrome 1 [RCV001255844] ChrX:48903013 [GRCh38]
ChrX:48760290 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001032382.2(PQBP1):c.728G>A (p.Arg243Gln) single nucleotide variant Renpenning syndrome 1 [RCV001262513] ChrX:48903014 [GRCh38]
ChrX:48760291 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001032382.2(PQBP1):c.539G>A (p.Arg180His) single nucleotide variant Intellectual disability, mild [RCV001263095] ChrX:48902479 [GRCh38]
ChrX:48759756 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001032382.2(PQBP1):c.508C>T (p.Arg170Trp) single nucleotide variant Renpenning syndrome 1 [RCV001270371] ChrX:48902448 [GRCh38]
ChrX:48759725 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001032382.2(PQBP1):c.376A>T (p.Arg126Trp) single nucleotide variant Inborn genetic diseases [RCV001267537] ChrX:48902316 [GRCh38]
ChrX:48759593 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001032382.2(PQBP1):c.575A>C (p.Lys192Thr) single nucleotide variant Inborn genetic diseases [RCV001265954] ChrX:48902515 [GRCh38]
ChrX:48759792 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001032382.2(PQBP1):c.671G>A (p.Arg224Gln) single nucleotide variant Renpenning syndrome 1 [RCV001333443] ChrX:48902957 [GRCh38]
ChrX:48760234 [GRCh37]
ChrX:Xp11.23
uncertain significance
NC_000023.10:g.(?_48382160)_(49856876_?)dup duplication Neurodegeneration with brain iron accumulation 5 [RCV001305099]|SLC35A2-CDG [RCV001308190] ChrX:48382160..49856876 [GRCh37]
ChrX:Xp11.23-11.22
uncertain significance
NM_001032382.2(PQBP1):c.32T>C (p.Leu11Ser) single nucleotide variant Renpenning syndrome 1 [RCV001332660] ChrX:48898541 [GRCh38]
ChrX:48755824 [GRCh37]
ChrX:Xp11.23
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9330 AgrOrtholog
COSMIC PQBP1 COSMIC
Ensembl Genes ENSG00000102103 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000218224 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000247140 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000365747 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000365750 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379985 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000391759 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000393013 UniProtKB/TrEMBL
  ENSP00000414861 UniProtKB/TrEMBL
  ENSP00000498362 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000218224 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000247140 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000376563 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000376566 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000396763 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000443648 UniProtKB/TrEMBL
  ENST00000447146 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000456306 UniProtKB/TrEMBL
  ENST00000477997 ENTREZGENE
  ENST00000651767 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.30.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000102103 GTEx
HGNC ID HGNC:9330 ENTREZGENE
Human Proteome Map PQBP1 Human Proteome Map
InterPro Thioredoxin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10084 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10084 ENTREZGENE
OMIM 300463 OMIM
  309500 OMIM
PharmGKB PA33693 PharmGKB
PROSITE WW_DOMAIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00456 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51045 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z4V5 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z556_HUMAN UniProtKB/TrEMBL
  A0A5H1ZRR1_HUMAN UniProtKB/TrEMBL
  H7C053_HUMAN UniProtKB/TrEMBL
  O60828 ENTREZGENE, UniProtKB/Swiss-Prot
  Q4VY28_HUMAN UniProtKB/TrEMBL
UniProt Secondary C9JQA1 UniProtKB/Swiss-Prot
  Q4VY25 UniProtKB/Swiss-Prot
  Q4VY26 UniProtKB/Swiss-Prot
  Q4VY27 UniProtKB/Swiss-Prot
  Q4VY29 UniProtKB/Swiss-Prot
  Q4VY30 UniProtKB/Swiss-Prot
  Q4VY34 UniProtKB/Swiss-Prot
  Q4VY35 UniProtKB/Swiss-Prot
  Q4VY36 UniProtKB/Swiss-Prot
  Q4VY37 UniProtKB/Swiss-Prot
  Q4VY38 UniProtKB/Swiss-Prot
  Q9GZP2 UniProtKB/Swiss-Prot
  Q9GZU4 UniProtKB/Swiss-Prot
  Q9GZZ4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 PQBP1  polyglutamine binding protein 1  MRX55  mental retardation, X-linked 55  Data Merged 737654 PROVISIONAL
2016-04-05 PQBP1  polyglutamine binding protein 1  RENS1  Renpenning syndrome 1  Data Merged 737654 PROVISIONAL
2016-04-05 PQBP1  polyglutamine binding protein 1  MRX2  mental retardation, X-linked 2 (non-dysmorphic)  Data Merged 737654 PROVISIONAL
2011-07-27 PQBP1  polyglutamine binding protein 1  PQBP1  polyglutamine binding protein 1  Symbol and/or name change 5135510 APPROVED