PIR (pirin) - Rat Genome Database

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Gene: PIR (pirin) Homo sapiens
Analyze
Symbol: PIR
Name: pirin
RGD ID: 1342511
HGNC Page HGNC
Description: Exhibits metal ion binding activity; quercetin 2,3-dioxygenase activity; and transcription coregulator activity. Involved in monocyte differentiation. Localizes to cytosol and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: pirin (iron-binding nuclear protein); probable quercetin 2,3-dioxygenase PIR; probable quercetinase
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 EnsemblX15,384,799 - 15,493,564 (-)EnsemblGRCh38hg38GRCh38
GRCh38X15,384,799 - 15,493,333 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X15,402,921 - 15,511,456 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X15,312,842 - 15,421,385 (-)NCBINCBI36hg18NCBI36
Build 34X15,162,582 - 15,271,113NCBI
CeleraX19,518,436 - 19,626,837 (-)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX13,159,639 - 13,268,835 (-)NCBIHuRef
CHM1_1X15,433,843 - 15,542,647 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
1,4-phenylenediamine  (EXP)
1-chloro-2,4-dinitrobenzene  (EXP)
1-nitropyrene  (EXP)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (EXP)
2,4,6-trinitrotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-4,6-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-phenylprop-2-enal  (EXP)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxyphenyl retinamide  (EXP)
5-fluorouracil  (EXP)
9-cis-retinoic acid  (EXP)
acetamide  (ISO)
acrolein  (EXP)
acrylamide  (EXP)
adefovir pivoxil  (EXP)
aflatoxin B1  (EXP,ISO)
aflatoxin B2  (EXP)
all-trans-4-oxoretinoic acid  (EXP)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
ampicillin  (EXP)
antirheumatic drug  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
benzylpenicillin  (EXP)
beta-naphthoflavone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bortezomib  (EXP)
bromobenzene  (ISO)
cadmium dichloride  (EXP)
cadmium sulfate  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
cefaloridine  (ISO)
chloroacetaldehyde  (EXP)
chlorohydrocarbon  (ISO)
chloroprene  (ISO)
chlorpromazine  (ISO)
cidofovir anhydrous  (EXP)
cisplatin  (EXP)
clodronic acid  (EXP)
cobalt atom  (EXP)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
curcumin  (ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
diethyl maleate  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
fenofibrate  (ISO)
finasteride  (ISO)
fipronil  (ISO)
flutamide  (ISO)
formaldehyde  (EXP)
hydrogen peroxide  (EXP)
indole-3-methanol  (ISO)
indometacin  (EXP)
isoflavones  (EXP)
isoprenaline  (ISO)
isotretinoin  (EXP)
lead diacetate  (EXP)
leflunomide  (ISO)
mercury dibromide  (EXP)
mercury dichloride  (EXP)
metformin  (ISO)
methapyrilene  (EXP)
methylmercury chloride  (EXP,ISO)
mitomycin C  (EXP)
N(6)-dimethylallyladenine  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nevirapine  (ISO)
nickel sulfate  (EXP)
nimesulide  (ISO)
oxaliplatin  (ISO)
ozone  (EXP)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (ISO)
pentachlorophenol  (ISO)
phenobarbital  (ISO)
phenoxymethylpenicillin  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (EXP,ISO)
quercetin  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
sodium dodecyl sulfate  (EXP)
succimer  (EXP)
sulfamethoxazole  (EXP)
sulforaphane  (EXP)
sunitinib  (EXP)
tetrachloromethane  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
topotecan  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
Tungsten carbide  (EXP)
tunicamycin  (EXP)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vincaleukoblastine  (EXP)
vinclozolin  (ISO)
xylitol  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IDA)
cytosol  (IDA)
nucleoplasm  (TAS)
nucleus  (IBA,IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:9079676   PMID:10362352   PMID:12876364   PMID:14573596   PMID:15231748   PMID:15489334   PMID:15951572   PMID:16344560   PMID:17213182   PMID:19766747   PMID:20010624   PMID:20089166  
PMID:20711196   PMID:21514450   PMID:21873635   PMID:22658674   PMID:22939629   PMID:23716661   PMID:24272884   PMID:24390086   PMID:25680527   PMID:26186194   PMID:26344197   PMID:28514442  
PMID:28825294   PMID:30021884   PMID:30444038   PMID:30575818   PMID:31500513   PMID:33001583   PMID:33373853  


Genomics

Comparative Map Data
PIR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX15,384,799 - 15,493,564 (-)EnsemblGRCh38hg38GRCh38
GRCh38X15,384,799 - 15,493,333 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X15,402,921 - 15,511,456 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X15,312,842 - 15,421,385 (-)NCBINCBI36hg18NCBI36
Build 34X15,162,582 - 15,271,113NCBI
CeleraX19,518,436 - 19,626,837 (-)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX13,159,639 - 13,268,835 (-)NCBIHuRef
CHM1_1X15,433,843 - 15,542,647 (-)NCBICHM1_1
Pir
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X163,052,427 - 163,156,009 (+)NCBIGRCm39mm39
GRCm39 EnsemblX163,052,367 - 163,156,007 (+)Ensembl
GRCm38X164,269,431 - 164,373,013 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX164,269,371 - 164,373,011 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X160,707,363 - 160,810,945 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X159,613,542 - 159,717,010 (+)NCBImm8
CeleraX147,485,273 - 147,588,412 (+)NCBICelera
Cytogenetic MapXF5NCBI
Pir
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X30,108,536 - 30,219,269 (-)NCBI
Rnor_6.0 EnsemblX31,852,323 - 31,968,152 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X31,852,322 - 31,968,152 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X32,226,073 - 32,341,358 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X50,864,981 - 50,974,861 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X50,918,450 - 51,028,330 (-)NCBI
CeleraX30,455,202 - 30,563,741 (-)NCBICelera
Cytogenetic MapXq14NCBI
Pir
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555192,698,172 - 2,813,206 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555192,698,207 - 2,813,201 (+)NCBIChiLan1.0ChiLan1.0
PIR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X15,294,094 - 15,403,506 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX15,294,099 - 15,404,004 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X8,011,382 - 8,121,994 (-)NCBIMhudiblu_PPA_v0panPan3
PIR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X11,627,337 - 11,733,489 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX11,627,337 - 11,733,489 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX11,534,820 - 11,640,316 (-)NCBI
ROS_Cfam_1.0X11,589,671 - 11,695,482 (-)NCBI
UMICH_Zoey_3.1X11,652,577 - 11,758,046 (-)NCBI
UNSW_CanFamBas_1.0X11,643,915 - 11,752,389 (-)NCBI
UU_Cfam_GSD_1.0X11,672,015 - 11,777,580 (-)NCBI
Pir
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X4,794,803 - 4,902,157 (-)NCBI
SpeTri2.0NW_0049364704,794,803 - 4,902,211 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PIR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX11,934,161 - 12,033,746 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X11,934,157 - 12,034,629 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X12,894,760 - 12,994,430 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PIR
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X13,854,356 - 13,966,554 (-)NCBI
ChlSab1.1 EnsemblX13,854,236 - 13,966,506 (-)Ensembl
Pir
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624829181,918 - 286,348 (-)NCBI

Position Markers
DXS207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,416,739 - 15,416,845UniSTSGRCh37
GRCh37X15,429,106 - 15,429,615UniSTSGRCh37
GRCh37X15,429,086 - 15,429,333UniSTSGRCh37
Build 36X15,339,007 - 15,339,254RGDNCBI36
CeleraX19,544,617 - 19,545,126UniSTS
CeleraX19,544,597 - 19,544,844RGD
CeleraX19,532,251 - 19,532,357UniSTS
Cytogenetic MapXp22.2UniSTS
HuRefX13,174,356 - 13,174,472UniSTS
HuRefX13,186,251 - 13,186,498UniSTS
HuRefX13,186,271 - 13,186,780UniSTS
DXS7968  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,479,270 - 15,479,445UniSTSGRCh37
Build 36X15,389,191 - 15,389,366RGDNCBI36
CeleraX19,594,643 - 19,594,818RGD
Cytogenetic MapXp22.2UniSTS
HuRefX13,235,975 - 13,236,150UniSTS
DXS7169  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,443,180 - 15,443,415UniSTSGRCh37
Build 36X15,353,101 - 15,353,336RGDNCBI36
CeleraX19,558,688 - 19,558,923RGD
Cytogenetic MapXp22.2UniSTS
HuRefX13,200,348 - 13,200,583UniSTS
SHGC-111483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,431,353 - 15,431,651UniSTSGRCh37
Build 36X15,341,274 - 15,341,572RGDNCBI36
CeleraX19,546,864 - 19,547,162RGD
Cytogenetic MapXp22.2UniSTS
HuRefX13,188,518 - 13,188,816UniSTS
TNG Radiation Hybrid MapX4385.0UniSTS
STS-H69335  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,402,941 - 15,403,114UniSTSGRCh37
Build 36X15,312,862 - 15,313,035RGDNCBI36
CeleraX19,518,456 - 19,518,629RGD
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp22.2UniSTS
HuRefX13,159,659 - 13,159,832UniSTS
GeneMap99-GB4 RH MapX90.7UniSTS
NCBI RH MapX10.0UniSTS
PIR_8825  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,402,724 - 15,403,238UniSTSGRCh37
Build 36X15,312,645 - 15,313,159RGDNCBI36
CeleraX19,518,239 - 19,518,753RGD
HuRefX13,159,442 - 13,159,956UniSTS
AF020096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,510,039 - 15,510,123UniSTSGRCh37
Build 36X15,419,960 - 15,420,044RGDNCBI36
CeleraX19,625,412 - 19,625,496RGD
Cytogenetic MapXp22UniSTS
Cytogenetic MapXp22.2UniSTS
HuRefX13,267,239 - 13,267,323UniSTS
DXS6727  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,511,027 - 15,511,250UniSTSGRCh37
Build 36X15,420,948 - 15,421,171RGDNCBI36
CeleraX19,626,400 - 19,626,623RGD
Cytogenetic MapXp22.2UniSTS
HuRefX13,268,151 - 13,268,374UniSTS
Whitehead-RH MapX5.5UniSTS
NCBI RH MapX10.0UniSTS
SHGC-34929  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,402,937 - 15,403,066UniSTSGRCh37
Build 36X15,312,858 - 15,312,987RGDNCBI36
CeleraX19,518,452 - 19,518,581RGD
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp22.2UniSTS
HuRefX13,159,655 - 13,159,784UniSTS
GeneMap99-GB4 RH MapX88.99UniSTS
Whitehead-RH MapX5.5UniSTS
DXS7696  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,510,454 - 15,510,560UniSTSGRCh37
Build 36X15,420,375 - 15,420,481RGDNCBI36
CeleraX19,625,827 - 19,625,933RGD
Cytogenetic MapXp22.2UniSTS
HuRefX13,267,654 - 13,267,760UniSTS
DXS6757  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X15,492,122 - 15,492,339UniSTSGRCh37
Build 36X15,402,043 - 15,402,260RGDNCBI36
CeleraX19,607,495 - 19,607,712RGD
Cytogenetic MapXp22.2UniSTS
HuRefX13,248,828 - 13,249,045UniSTS
DXS207  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp22.2UniSTS
DXS207  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp22.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:644
Count of miRNA genes:457
Interacting mature miRNAs:493
Transcripts:ENST00000380420, ENST00000380421, ENST00000471725, ENST00000476381, ENST00000484433, ENST00000492432
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1078 1243 1134 221 683 188 2570 763 1801 193 822 1333 47 1 1054 1414 3
Low 1357 1118 589 403 490 277 1787 1428 1932 226 636 275 128 150 1374 3 2
Below cutoff 3 607 2 680 5 1 1 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001018109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC095351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC097625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX399859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA686501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DT217415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U75931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y07867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y07868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000380420   ⟹   ENSP00000369785
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,384,799 - 15,493,333 (-)Ensembl
RefSeq Acc Id: ENST00000380421   ⟹   ENSP00000369786
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,384,799 - 15,493,564 (-)Ensembl
RefSeq Acc Id: ENST00000471725
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,478,416 - 15,493,288 (-)Ensembl
RefSeq Acc Id: ENST00000476381
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,429,375 - 15,491,207 (-)Ensembl
RefSeq Acc Id: ENST00000484433
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,389,963 - 15,407,550 (-)Ensembl
RefSeq Acc Id: ENST00000492432
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX15,384,799 - 15,407,653 (-)Ensembl
RefSeq Acc Id: NM_001018109   ⟹   NP_001018119
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X15,384,799 - 15,493,333 (-)NCBI
GRCh37X15,402,921 - 15,511,711 (-)ENTREZGENE
Build 36X15,312,842 - 15,421,385 (-)NCBI Archive
HuRefX13,159,639 - 13,268,835 (-)ENTREZGENE
CHM1_1X15,433,843 - 15,542,647 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003662   ⟹   NP_003653
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X15,384,799 - 15,493,333 (-)NCBI
GRCh37X15,402,921 - 15,511,711 (-)ENTREZGENE
Build 36X15,312,842 - 15,421,385 (-)NCBI Archive
HuRefX13,159,639 - 13,268,835 (-)ENTREZGENE
CHM1_1X15,433,843 - 15,542,647 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001018119   ⟸   NM_001018109
- UniProtKB: O00625 (UniProtKB/Swiss-Prot),   A0A024RBX6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003653   ⟸   NM_003662
- UniProtKB: O00625 (UniProtKB/Swiss-Prot),   A0A024RBX6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000369786   ⟸   ENST00000380421
RefSeq Acc Id: ENSP00000369785   ⟸   ENST00000380420
Protein Domains
Pirin   Pirin_C

Promoters
RGD ID:6809128
Promoter ID:HG_KWN:66073
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000055861,   OTTHUMT00000055862,   OTTHUMT00000055863
Position:
Human AssemblyChrPosition (strand)Source
Build 36X15,421,104 - 15,421,604 (-)MPROMDB
RGD ID:13604794
Promoter ID:EPDNEW_H28581
Type:initiation region
Name:PIR_1
Description:pirin
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
GRCh38X15,493,255 - 15,493,315EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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 Xp22.31-22.2(chrX:9038047-16646589)x2 copy number gain See cases [RCV000052362] ChrX:9038047..16646589 [GRCh38]
ChrX:9006088..16664712 [GRCh37]
ChrX:8966088..16574633 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(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)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.2-22.11(chrX:15173626-23952585)x2 copy number gain See cases [RCV000134875] ChrX:15173626..23952585 [GRCh38]
ChrX:15191748..23970702 [GRCh37]
ChrX:15101669..23880623 [NCBI36]
ChrX:Xp22.2-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-22.2(chrX:2936461-17287323)x2 copy number gain See cases [RCV000135895] ChrX:2936461..17287323 [GRCh38]
ChrX:2854502..17305446 [GRCh37]
ChrX:2864502..17215367 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-16187419)x1 copy number loss See cases [RCV000137252] ChrX:10679..16187419 [GRCh38]
ChrX:60679..16205542 [GRCh37]
ChrX:679..16115463 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX: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 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9239101-16721153)x1 copy number loss See cases [RCV000137753] ChrX:9239101..16721153 [GRCh38]
ChrX:9207141..16739276 [GRCh37]
ChrX:9167141..16649197 [NCBI36]
ChrX:Xp22.31-22.2
uncertain significance
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.2(chrX:15360898-15685709)x2 copy number gain See cases [RCV000139559] ChrX:15360898..15685709 [GRCh38]
ChrX:15379020..15703832 [GRCh37]
ChrX:15288941..15613753 [NCBI36]
ChrX:Xp22.2
likely benign
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1 copy number loss See cases [RCV000142053] ChrX:251879..16967290 [GRCh38]
ChrX:168546..16985413 [GRCh37]
ChrX:108546..16895334 [NCBI36]
ChrX:Xp22.33-22.2
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 Xp22.2-22.12(chrX:12856740-19380317)x2 copy number gain See cases [RCV000143774] ChrX:12856740..19380317 [GRCh38]
ChrX:12874859..19398435 [GRCh37]
ChrX:12784780..19308356 [NCBI36]
ChrX:Xp22.2-22.12
likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(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 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2(chrX:15445440-16061424)x2 copy number gain See cases [RCV000445674] ChrX:15445440..16061424 [GRCh37]
ChrX:Xp22.2
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
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2 copy number gain See cases [RCV000511443] ChrX:15290524..29747172 [GRCh37]
ChrX:Xp22.2-21.2
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1 copy number loss not provided [RCV000684181] ChrX:168546..16404364 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.2(chrX:15448015-15714937)x3 copy number gain not provided [RCV000684276] ChrX:15448015..15714937 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:15486059-16018163)x3 copy number gain not provided [RCV000684277] ChrX:15486059..16018163 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.2(chrX:15256031-15472910)x2 copy number gain not provided [RCV000753390] ChrX:15256031..15472910 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.2(chrX:15290053-16071445)x3 copy number gain not provided [RCV000753391] ChrX:15290053..16071445 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_001018109.3(PIR):c.683T>C (p.Val228Ala) single nucleotide variant not provided [RCV000959719] ChrX:15397459 [GRCh38]
ChrX:15415581 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849766] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849768] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.2-22.13(chrX:15415636-18339030)x1 copy number loss not provided [RCV001007265] ChrX:15415636..18339030 [GRCh37]
ChrX:Xp22.2-22.13
uncertain significance
GRCh37/hg19 Xp22.2(chrX:14897121-15895646)x3 copy number gain not provided [RCV000846206] ChrX:14897121..15895646 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2-22.11(chrX:15330714-21915234)x2 copy number gain not provided [RCV000846517] ChrX:15330714..21915234 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.2(chrX:15172188-16136635)x2 copy number gain not provided [RCV000848087] ChrX:15172188..16136635 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:15334953-16221373)x2 copy number gain not provided [RCV000846122] ChrX:15334953..16221373 [GRCh37]
ChrX:Xp22.2
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 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_001018109.3(PIR):c.694G>A (p.Asp232Asn) single nucleotide variant not provided [RCV000955995] ChrX:15390251 [GRCh38]
ChrX:15408373 [GRCh37]
ChrX:Xp22.2
benign
NM_001018109.3(PIR):c.317G>T (p.Cys106Phe) single nucleotide variant not provided [RCV000890602] ChrX:15456011 [GRCh38]
ChrX:15474134 [GRCh37]
ChrX:Xp22.2
benign
NM_001018109.3(PIR):c.289C>T (p.Arg97Trp) single nucleotide variant not provided [RCV000890606] ChrX:15456039 [GRCh38]
ChrX:15474162 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.2(chrX:15319722-16018163)x2 copy number gain not provided [RCV001007264] ChrX:15319722..16018163 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 copy number loss not provided [RCV001007200] ChrX:168546..17502124 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30048 AgrOrtholog
COSMIC PIR COSMIC
Ensembl Genes ENSG00000087842 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000369785 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000369786 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000380420 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000380421 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.120.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000087842 GTEx
HGNC ID HGNC:30048 ENTREZGENE
Human Proteome Map PIR Human Proteome Map
InterPro Pirin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pirin_C_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pirin_N_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RmlC-like_jellyroll UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RmlC_Cupin_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8544 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8544 ENTREZGENE
OMIM 300931 OMIM
Pfam Pirin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pirin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134870022 PharmGKB
PIRSF Pirin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51182 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RBX6 ENTREZGENE, UniProtKB/TrEMBL
  O00625 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q5U0G0 UniProtKB/Swiss-Prot
  Q6FHD2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 PIR  pirin    pirin (iron-binding nuclear protein)  Symbol and/or name change 5135510 APPROVED
2011-08-17 PIR  pirin (iron-binding nuclear protein)  PIR  pirin (iron-binding nuclear protein)  Symbol and/or name change 5135510 APPROVED