UPRT (uracil phosphoribosyltransferase homolog) - Rat Genome Database
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Gene: UPRT (uracil phosphoribosyltransferase homolog) Homo sapiens
Analyze
Symbol: UPRT
Name: uracil phosphoribosyltransferase homolog
RGD ID: 1605870
HGNC Page HGNC
Description: Predicted to have kinase activity. Predicted to be involved in several processes, including lactation; nucleobase-containing small molecule metabolic process; and response to insulin. Localizes to nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp781E1243; FUR1; MGC23937; RP11-311P8.3; UMP pyrophosphorylase; UPP; UPRTase; uracil phosphoribosyltransferase (FUR1) homolog
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 EnsemblX75,156,388 - 75,304,885 (+)EnsemblGRCh38hg38GRCh38
GRCh38X75,156,369 - 75,304,897 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X74,376,204 - 74,524,732 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37X74,493,894 - 74,524,732 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X74,410,686 - 74,441,159 (+)NCBINCBI36hg18NCBI36
CeleraX74,777,320 - 74,808,158 (+)NCBI
Cytogenetic MapXq13.3NCBI
HuRefX68,128,874 - 68,159,480 (+)NCBIHuRef
CHM1_1X74,386,787 - 74,417,624 (+)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

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15489334   PMID:15772651   PMID:16189514   PMID:16344560   PMID:17384901   PMID:18626508   PMID:21516116   PMID:21873635   PMID:25416956   PMID:26186194  
PMID:26271729   PMID:28514442   PMID:29987050   PMID:31091453   PMID:31515488   PMID:32296183  


Genomics

Comparative Map Data
UPRT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX75,156,388 - 75,304,885 (+)EnsemblGRCh38hg38GRCh38
GRCh38X75,156,369 - 75,304,897 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X74,376,204 - 74,524,732 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37X74,493,894 - 74,524,732 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X74,410,686 - 74,441,159 (+)NCBINCBI36hg18NCBI36
CeleraX74,777,320 - 74,808,158 (+)NCBI
Cytogenetic MapXq13.3NCBI
HuRefX68,128,874 - 68,159,480 (+)NCBIHuRef
CHM1_1X74,386,787 - 74,417,624 (+)NCBICHM1_1
Uprt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X103,526,409 - 103,555,829 (+)NCBIGRCm39mm39
GRCm38X104,482,803 - 104,512,223 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX104,482,818 - 104,507,490 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X101,678,121 - 101,701,601 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X100,685,501 - 100,708,981 (+)NCBImm8
CeleraX91,375,831 - 91,399,185 (+)NCBICelera
Cytogenetic MapXDNCBI
Uprt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X69,516,573 - 69,546,811 (+)NCBI
Rnor_6.0 EnsemblX75,382,598 - 75,407,217 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X75,382,553 - 75,408,541 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X76,184,934 - 76,210,907 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X92,511,044 - 92,535,135 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX70,870,490 - 70,896,599 (+)NCBICelera
Cytogenetic MapXq22NCBI
Uprt
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555621,385,611 - 1,415,336 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555621,385,617 - 1,415,277 (+)NCBIChiLan1.0ChiLan1.0
UPRT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X74,639,179 - 74,675,221 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX74,639,179 - 74,675,221 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X64,524,889 - 64,561,439 (+)NCBIMhudiblu_PPA_v0panPan3
UPRT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 EnsemblX58,543,425 - 58,575,926 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1X58,570,623 - 58,576,980 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Uprt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049366831,432,004 - 1,454,004 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UPRT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX60,426,975 - 60,451,480 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X60,426,955 - 60,448,174 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X68,687,968 - 68,709,136 (+)NCBISscrofa10.2Sscrofa10.2susScr3
UPRT
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X64,815,163 - 64,846,198 (+)NCBI
ChlSab1.1 EnsemblX64,815,183 - 64,849,547 (+)Ensembl
Uprt
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248365,473,129 - 5,502,276 (-)NCBI

Position Markers
SHGC-36950  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X74,524,316 - 74,524,391UniSTSGRCh37
Build 36X74,441,041 - 74,441,116RGDNCBI36
CeleraX74,807,742 - 74,807,817RGD
Cytogenetic MapXq13.3UniSTS
Stanford-G3 RH MapX2648.0UniSTS
GeneMap99-GB4 RH MapX246.77UniSTS
Whitehead-RH MapX210.4UniSTS
NCBI RH MapX518.4UniSTS
GeneMap99-G3 RH MapX1992.0UniSTS
AB063065  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X74,523,752 - 74,523,958UniSTSGRCh37
Build 36X74,440,477 - 74,440,683RGDNCBI36
CeleraX74,807,178 - 74,807,384RGD

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3511
Count of miRNA genes:987
Interacting mature miRNAs:1208
Transcripts:ENST00000373373, ENST00000373379, ENST00000373383, ENST00000462237, ENST00000474175, ENST00000526850, ENST00000530743, ENST00000531704
Prediction methods:Microtar, Miranda, Pita, 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 230 222 506 42 731 35 495 58 595 195 261 526 12 50 208 2 1
Low 2208 2697 1219 581 1161 429 3860 2126 3139 223 1195 1083 161 1 1154 2580 4 1
Below cutoff 1 72 59 1 13 1 2 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001307944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_030774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA974609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL360179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY643714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK818555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA512889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000373373   ⟹   ENSP00000362471
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,274,127 - 75,293,514 (+)Ensembl
RefSeq Acc Id: ENST00000373379   ⟹   ENSP00000362477
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,274,090 - 75,304,600 (+)Ensembl
RefSeq Acc Id: ENST00000373383   ⟹   ENSP00000362481
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,274,085 - 75,304,885 (+)Ensembl
RefSeq Acc Id: ENST00000462237   ⟹   ENSP00000433987
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,274,116 - 75,303,519 (+)Ensembl
RefSeq Acc Id: ENST00000474175
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,293,472 - 75,303,922 (+)Ensembl
RefSeq Acc Id: ENST00000526850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,285,434 - 75,303,548 (+)Ensembl
RefSeq Acc Id: ENST00000530743   ⟹   ENSP00000434037
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,274,728 - 75,304,572 (+)Ensembl
RefSeq Acc Id: ENST00000531704
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,274,085 - 75,297,791 (+)Ensembl
RefSeq Acc Id: ENST00000652605   ⟹   ENSP00000498525
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX75,156,388 - 75,304,873 (+)Ensembl
RefSeq Acc Id: NM_001307944   ⟹   NP_001294873
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X75,274,059 - 75,304,897 (+)NCBI
CHM1_1X74,386,787 - 74,417,624 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363821   ⟹   NP_001350750
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X75,156,369 - 75,304,897 (+)NCBI
RefSeq Acc Id: NM_145052   ⟹   NP_659489
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X75,274,085 - 75,304,885 (+)NCBI
GRCh37X74,493,894 - 74,524,732 (+)RGD
Build 36X74,410,686 - 74,441,159 (+)NCBI Archive
CeleraX74,777,320 - 74,808,158 (+)RGD
HuRefX68,128,874 - 68,159,480 (+)ENTREZGENE
CHM1_1X74,386,787 - 74,417,624 (+)NCBI
Sequence:
RefSeq Acc Id: NR_030774
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X75,274,059 - 75,304,897 (+)NCBI
GRCh37X74,493,894 - 74,524,732 (+)RGD
CeleraX74,777,320 - 74,808,158 (+)RGD
HuRefX68,128,874 - 68,159,480 (+)ENTREZGENE
CHM1_1X74,386,787 - 74,417,624 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530867   ⟹   XP_011529169
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X75,274,086 - 75,296,334 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_659489   ⟸   NM_145052
- Peptide Label: isoform 1
- UniProtKB: Q96BW1 (UniProtKB/Swiss-Prot),   A8KAF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529169   ⟸   XM_011530867
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001294873   ⟸   NM_001307944
- Peptide Label: isoform 2
- UniProtKB: A0A0A0MRR5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001350750   ⟸   NM_001363821
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000434037   ⟸   ENST00000530743
RefSeq Acc Id: ENSP00000362471   ⟸   ENST00000373373
RefSeq Acc Id: ENSP00000362477   ⟸   ENST00000373379
RefSeq Acc Id: ENSP00000362481   ⟸   ENST00000373383
RefSeq Acc Id: ENSP00000498525   ⟸   ENST00000652605
RefSeq Acc Id: ENSP00000433987   ⟸   ENST00000462237

Promoters
RGD ID:6808680
Promoter ID:HG_KWN:67299
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000373373,   ENST00000373379,   NM_145052,   NR_030774,   UC004ECE.1,   UC010NLU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X74,410,136 - 74,410,972 (+)MPROMDB
RGD ID:13627486
Promoter ID:EPDNEW_H29018
Type:initiation region
Name:UPRT_1
Description:uracil phosphoribosyltransferase homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29019  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X75,274,085 - 75,274,145EPDNEW
RGD ID:13627488
Promoter ID:EPDNEW_H29019
Type:initiation region
Name:UPRT_2
Description:uracil phosphoribosyltransferase homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29018  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X75,274,223 - 75,274,283EPDNEW

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
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: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)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xq12-21.1(chrX:67621041-76868590)x2 copy number gain See cases [RCV000052416] ChrX:67621041..76868590 [GRCh38]
ChrX:66840883..76009501 [GRCh37]
ChrX:66757608..76005403 [NCBI36]
ChrX:Xq12-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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-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 Xq13.3(chrX:75243091-75431414)x3 copy number gain See cases [RCV000053698] ChrX:75243091..75431414 [GRCh38]
ChrX:74462926..74651249 [GRCh37]
ChrX:74379651..74567974 [NCBI36]
ChrX:Xq13.3
benign
GRCh38/hg38 Xq13.3(chrX:75243922-75372926)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054211]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054211]|See cases [RCV000054211] ChrX:75243922..75372926 [GRCh38]
ChrX:74463757..74592761 [GRCh37]
ChrX:Xq13.3
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
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: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)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: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 Xq13.3(chrX:75243922-75372926)x4 copy number gain See cases [RCV000054211] ChrX:75243922..75372926 [GRCh38]
ChrX:74463757..74592761 [GRCh37]
ChrX:74380482..74509486 [NCBI36]
ChrX:Xq13.3
uncertain significance
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 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1
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 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 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
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 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 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 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3(chrX:75140475-75296271)x2 copy number gain See cases [RCV000136742] ChrX:75140475..75296271 [GRCh38]
ChrX:74360310..74516106 [GRCh37]
ChrX:74277035..74432831 [NCBI36]
ChrX:Xq13.3
benign
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 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
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-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 Xq13.3(chrX:75243922-75431414)x2 copy number gain See cases [RCV000138818] ChrX:75243922..75431414 [GRCh38]
ChrX:74463757..74651249 [GRCh37]
ChrX:74380482..74567974 [NCBI36]
ChrX:Xq13.3
conflicting data from submitters
GRCh38/hg38 Xq13.3(chrX:75243922-75431414)x3 copy number gain See cases [RCV000138819] ChrX:75243922..75431414 [GRCh38]
ChrX:74463757..74651249 [GRCh37]
ChrX:74380482..74567974 [NCBI36]
ChrX:Xq13.3
uncertain significance|conflicting data from submitters
GRCh38/hg38 Xq13.3(chrX:75243922-75431414)x4 copy number gain See cases [RCV000138820] ChrX:75243922..75431414 [GRCh38]
ChrX:74463757..74651249 [GRCh37]
ChrX:74380482..74567974 [NCBI36]
ChrX:Xq13.3
uncertain significance
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 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 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 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3 copy number gain See cases [RCV000142336] ChrX:66445907..78172208 [GRCh38]
ChrX:65665749..77427705 [GRCh37]
ChrX:65582474..77314361 [NCBI36]
ChrX:Xq12-21.1
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 Xq13.3(chrX:75243922-75372926)x3 copy number gain See cases [RCV000142576] ChrX:75243922..75372926 [GRCh38]
ChrX:74463757..74592761 [GRCh37]
ChrX:74380482..74509486 [NCBI36]
ChrX:Xq13.3
uncertain significance
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 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 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)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3
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)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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
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:71267-155246643)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 Xp22.2-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:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3(chrX:74494014-74649521)x2 copy number gain See cases [RCV000240169] ChrX:74494014..74649521 [GRCh37]
ChrX:Xq13.3
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-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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1
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 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:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3(chrX:75201035-75243922)x3 copy number gain See cases [RCV000135228] ChrX:75201035..75243922 [GRCh38]
ChrX:74420870..74463757 [GRCh37]
ChrX:Xq13.3
likely benign
GRCh38/hg38 Xq13.3(chrX:75201035-75243922)x2 copy number gain See cases [RCV000135229] ChrX:75201035..75243922 [GRCh38]
ChrX:74420870..74463757 [GRCh37]
ChrX:74337595..74380482 [NCBI36]
ChrX:Xq13.3
likely benign
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-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 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
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:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-21.1(chrX:71316395-84337550)x3 copy number gain See cases [RCV000447565] ChrX:71316395..84337550 [GRCh37]
ChrX:Xq13.1-21.1
uncertain significance
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:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3(chrX:74494014-74649462)x3 copy number gain See cases [RCV000446515] ChrX:74494014..74649462 [GRCh37]
ChrX:Xq13.3
uncertain significance
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:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-13.3(chrX:73111197-74781209)x3 copy number gain See cases [RCV000445901] ChrX:73111197..74781209 [GRCh37]
ChrX:Xq13.2-13.3
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:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3(chrX:74465214-74654324)x3 copy number gain See cases [RCV000512088] ChrX:74465214..74654324 [GRCh37]
ChrX:Xq13.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [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 Xq13.3(chrX:74465214-74654324)x4 copy number gain See cases [RCV000511359] ChrX:74465214..74654324 [GRCh37]
ChrX:Xq13.3
likely benign
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 Xq13.3(chrX:74447410-74654324)x4 copy number gain See cases [RCV000511986] ChrX:74447410..74654324 [GRCh37]
ChrX:Xq13.3
likely benign
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 Xq13.3(chrX:74465713-74654324)x3 copy number gain See cases [RCV000511185] ChrX:74465713..74654324 [GRCh37]
ChrX:Xq13.3
uncertain significance
GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2 copy number gain See cases [RCV000052417] ChrX:68382004..75243150 [GRCh38]
ChrX:67601846..74462985 [GRCh37]
ChrX:67518571..74379710 [NCBI36]
ChrX:Xq12-13.3
pathogenic
GRCh38/hg38 Xq13.3(chrX:75012979-75197052)x2 copy number gain See cases [RCV000052419] ChrX:75012979..75197052 [GRCh38]
ChrX:74232814..74416887 [GRCh37]
ChrX:74149539..74333612 [NCBI36]
ChrX:Xq13.3
pathogenic
GRCh38/hg38 Xq13.2-13.3(chrX:74326571-75201094)x2 copy number gain See cases [RCV000143004] ChrX:74326571..75201094 [GRCh38]
ChrX:73546406..74420929 [GRCh37]
ChrX:73463131..74337654 [NCBI36]
ChrX:Xq13.2-13.3
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
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
Single allele duplication not provided [RCV000677997] ChrX:74494014..74649521 [GRCh37]
ChrX:Xq13.3
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
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 Xq13.3(chrX:74269157-74995370)x3 copy number gain not provided [RCV000753608] ChrX:74269157..74995370 [GRCh37]
ChrX:Xq13.3
benign
GRCh37/hg19 Xq13.3(chrX:74515957-74610826)x2 copy number gain not provided [RCV000753610] ChrX:74515957..74610826 [GRCh37]
ChrX:Xq13.3
benign
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)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
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
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 Xq13.3(chrX:74385903-74654323)x2 copy number gain not provided [RCV000848732] ChrX:74385903..74654323 [GRCh37]
ChrX:Xq13.3
uncertain significance
GRCh37/hg19 Xq13.3(chrX:74509925-74614674)x3 copy number gain not provided [RCV000847916] ChrX:74509925..74614674 [GRCh37]
ChrX:Xq13.3
uncertain significance
GRCh37/hg19 Xq13.3(chrX:74465706-74654319)x3 copy number gain not provided [RCV000848850] ChrX:74465706..74654319 [GRCh37]
ChrX:Xq13.3
uncertain significance
GRCh37/hg19 Xq13.3(chrX:74465706-74654324)x4 copy number gain not provided [RCV000847589] ChrX:74465706..74654324 [GRCh37]
ChrX:Xq13.3
uncertain significance
GRCh37/hg19 Xq13.3(chrX:74465706-74660886)x4 copy number gain not provided [RCV000847326] ChrX:74465706..74660886 [GRCh37]
ChrX:Xq13.3
uncertain significance
GRCh37/hg19 Xq13.3(chrX:74509925-74602347)x2 copy number gain not provided [RCV000845734] ChrX:74509925..74602347 [GRCh37]
ChrX:Xq13.3
uncertain significance
GRCh37/hg19 Xq13.3(chrX:74447412-74663203)x2 copy number gain not provided [RCV000847364] ChrX:74447412..74663203 [GRCh37]
ChrX:Xq13.3
uncertain significance
GRCh37/hg19 Xq13.3(chrX:74447412-74663203)x2 copy number gain not provided [RCV000847365] ChrX:74447412..74663203 [GRCh37]
ChrX:Xq13.3
uncertain significance
GRCh37/hg19 Xq13.3(chrX:74465706-74654324)x4 copy number gain not provided [RCV000847591] ChrX:74465706..74654324 [GRCh37]
ChrX:Xq13.3
uncertain significance
GRCh37/hg19 Xq13.3(chrX:74462977-74654323)x2 copy number gain not provided [RCV000849067] ChrX:74462977..74654323 [GRCh37]
ChrX:Xq13.3
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 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xq13.3(chrX:74465214-74654323)x2 copy number gain not provided [RCV000847506] ChrX:74465214..74654323 [GRCh37]
ChrX:Xq13.3
uncertain significance
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 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 Xq13.3(chrX:74427439-74720986)x2 copy number gain not provided [RCV001007315] ChrX:74427439..74720986 [GRCh37]
ChrX:Xq13.3
uncertain significance
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 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:28334 AgrOrtholog
COSMIC UPRT COSMIC
Ensembl Genes ENSG00000094841 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000362471 UniProtKB/TrEMBL
  ENSP00000362477 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000362481 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000433987 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000434037 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000498525 UniProtKB/TrEMBL
Ensembl Transcript ENST00000373373 UniProtKB/TrEMBL
  ENST00000373379 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000373383 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000462237 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000530743 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000652605 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.2020 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000094841 GTEx
HGNC ID HGNC:28334 ENTREZGENE
Human Proteome Map UPRT Human Proteome Map
InterPro PRibTrfase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRTase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:139596 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 139596 ENTREZGENE
OMIM 300656 OMIM
PharmGKB PA162408652 PharmGKB
Superfamily-SCOP SSF53271 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MRR5 ENTREZGENE, UniProtKB/TrEMBL
  A0A494C0H3_HUMAN UniProtKB/TrEMBL
  A8KAF9 ENTREZGENE, UniProtKB/TrEMBL
  E9PSD7_HUMAN UniProtKB/TrEMBL
  F8W6E9_HUMAN UniProtKB/TrEMBL
  Q96BW1 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q5JRL1 UniProtKB/Swiss-Prot
  Q5JRL3 UniProtKB/Swiss-Prot
  Q68DN0 UniProtKB/Swiss-Prot
  Q96MW2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 UPRT  uracil phosphoribosyltransferase homolog    uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED