RENBP (renin binding protein) - Rat Genome Database

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Gene: RENBP (renin binding protein) Homo sapiens
Analyze
Symbol: RENBP
Name: renin binding protein
RGD ID: 732186
HGNC Page HGNC
Description: Predicted to have N-acylglucosamine 2-epimerase activity and peptidase inhibitor activity. Predicted to be involved in N-acetylglucosamine metabolic process and N-acetylmannosamine metabolic process. Localizes to extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AGE; GlcNAc 2-epimerase; N-acetyl-D-glucosamine 2-epimerase; N-acylglucosamine 2-epimerase; RBP; renin-binding protein; RNBP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
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 EnsemblX153,935,269 - 153,944,687 (-)EnsemblGRCh38hg38GRCh38
GRCh38X153,935,263 - 153,944,643 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,200,722 - 153,210,095 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,853,917 - 152,863,426 (-)NCBINCBI36hg18NCBI36
Build 34X152,721,569 - 152,731,079NCBI
CeleraX153,434,439 - 153,443,945 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX141,853,485 - 141,862,600 (-)NCBIHuRef
CHM1_1X153,075,217 - 153,084,644 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:1618798   PMID:1723410   PMID:3924907   PMID:6756682   PMID:7721097   PMID:8088804   PMID:9285790   PMID:9305888   PMID:9990133   PMID:11098137   PMID:11256614   PMID:11467860  
PMID:11926999   PMID:12394950   PMID:12446192   PMID:12477932   PMID:12499362   PMID:12612874   PMID:15489334   PMID:16189514   PMID:18029348   PMID:19056867   PMID:19913121   PMID:20486282  
PMID:20628086   PMID:21873635   PMID:22692205   PMID:23376485   PMID:23969252   PMID:24043878   PMID:28514442   PMID:32296183  


Genomics

Comparative Map Data
RENBP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX153,935,269 - 153,944,687 (-)EnsemblGRCh38hg38GRCh38
GRCh38X153,935,263 - 153,944,643 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,200,722 - 153,210,095 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,853,917 - 152,863,426 (-)NCBINCBI36hg18NCBI36
Build 34X152,721,569 - 152,731,079NCBI
CeleraX153,434,439 - 153,443,945 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX141,853,485 - 141,862,600 (-)NCBIHuRef
CHM1_1X153,075,217 - 153,084,644 (-)NCBICHM1_1
Renbp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X72,965,727 - 72,974,465 (-)NCBIGRCm39mm39
GRCm39 EnsemblX72,965,727 - 72,974,456 (-)Ensembl
GRCm38X73,922,121 - 73,930,850 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX73,922,121 - 73,930,850 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X71,167,460 - 71,176,189 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X70,174,842 - 70,183,538 (-)NCBImm8
CeleraX65,174,555 - 65,183,285 (-)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX37.49NCBI
Renbp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X151,661,463 - 151,670,538 (-)NCBI
Rnor_6.0 EnsemblX156,854,594 - 156,863,528 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X156,854,490 - 156,863,548 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01152,602,562 - 152,611,616 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X159,849,355 - 159,858,288 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X159,924,790 - 159,933,724 (-)NCBI
Celera1136,221,770 - 136,230,703 (+)NCBICelera
Cytogenetic MapXq37NCBI
Renbp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955580609,964 - 615,027 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955580610,112 - 615,019 (-)NCBIChiLan1.0ChiLan1.0
RENBP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X153,376,853 - 153,386,214 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX153,376,847 - 153,386,214 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X143,490,103 - 143,499,487 (-)NCBIMhudiblu_PPA_v0panPan3
RENBP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X121,782,411 - 121,788,928 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX121,727,573 - 121,788,860 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX107,111,170 - 107,117,703 (-)NCBI
ROS_Cfam_1.0X124,923,691 - 124,930,226 (-)NCBI
UMICH_Zoey_3.1X120,692,968 - 120,699,499 (-)NCBI
UNSW_CanFamBas_1.0X123,208,364 - 123,214,895 (-)NCBI
UU_Cfam_GSD_1.0X122,969,701 - 122,976,234 (-)NCBI
LOC101971758
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,079,621 - 119,086,182 (-)NCBI
SpeTri2.0NW_004936809817,392 - 823,926 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RENBP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX124,657,675 - 124,672,235 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X124,662,957 - 124,670,522 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X142,227,781 - 142,235,348 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103232810
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X128,359,313 - 128,369,070 (-)NCBI
ChlSab1.1 EnsemblX128,359,396 - 128,368,581 (-)Ensembl

Position Markers
RH17361  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,206,936 - 153,207,068UniSTSGRCh37
Build 36X152,860,130 - 152,860,262RGDNCBI36
CeleraX153,440,652 - 153,440,784RGD
Cytogenetic MapXq28UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS
GDB:594112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,211,852 - 153,212,100UniSTSGRCh37
Build 36X152,865,046 - 152,865,294RGDNCBI36
CeleraX153,445,563 - 153,445,811RGD
Cytogenetic MapXq28UniSTS
ECD01379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,211,219 - 153,212,086UniSTSGRCh37
Build 36X152,864,413 - 152,865,280RGDNCBI36
CeleraX153,444,931 - 153,445,797RGD
Cytogenetic MapXq28UniSTS
HuRefX141,863,937 - 141,864,803UniSTS
ECD02002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,206,813 - 153,207,658UniSTSGRCh37
Build 36X152,860,007 - 152,860,852RGDNCBI36
CeleraX153,440,529 - 153,441,374RGD
Cytogenetic MapXq28UniSTS
HuRefX141,859,517 - 141,860,079UniSTS
ECD03606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,208,012 - 153,208,801UniSTSGRCh37
Build 36X152,861,206 - 152,861,995RGDNCBI36
CeleraX153,441,728 - 153,442,518RGD
Cytogenetic MapXq28UniSTS
HuRefX141,860,435 - 141,861,225UniSTS
ECD04434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,208,868 - 153,209,632UniSTSGRCh37
Build 36X152,862,062 - 152,862,826RGDNCBI36
CeleraX153,442,585 - 153,443,349RGD
Cytogenetic MapXq28UniSTS
HuRefX141,861,292 - 141,862,056UniSTS
ECD04542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,209,688 - 153,210,449UniSTSGRCh37
Build 36X152,862,882 - 152,863,643RGDNCBI36
CeleraX153,443,405 - 153,444,162RGD
Cytogenetic MapXq28UniSTS
ECD15242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,204,932 - 153,205,407UniSTSGRCh37
Build 36X152,858,126 - 152,858,601RGDNCBI36
CeleraX153,438,649 - 153,439,124RGD
Cytogenetic MapXq28UniSTS
HuRefX141,857,637 - 141,858,112UniSTS
ECD15651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,205,445 - 153,205,910UniSTSGRCh37
Build 36X152,858,639 - 152,859,104RGDNCBI36
CeleraX153,439,162 - 153,439,627RGD
Cytogenetic MapXq28UniSTS
HuRefX141,858,150 - 141,858,615UniSTS
ECD18938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,201,989 - 153,202,330UniSTSGRCh37
Build 36X152,855,183 - 152,855,524RGDNCBI36
CeleraX153,435,706 - 153,436,047RGD
Cytogenetic MapXq28UniSTS
HuRefX141,854,694 - 141,855,035UniSTS
ECD21378  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,200,810 - 153,201,061UniSTSGRCh37
Build 36X152,854,004 - 152,854,255RGDNCBI36
CeleraX153,434,527 - 153,434,778RGD
Cytogenetic MapXq28UniSTS
HuRefX141,853,515 - 141,853,766UniSTS
REN88230  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,200,725 - 153,200,970UniSTSGRCh37
Build 36X152,853,919 - 152,854,164RGDNCBI36
CeleraX153,434,442 - 153,434,687RGD
Cytogenetic MapXq28UniSTS
REN88231  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,200,942 - 153,201,190UniSTSGRCh37
Build 36X152,854,136 - 152,854,384RGDNCBI36
CeleraX153,434,659 - 153,434,907RGD
Cytogenetic MapXq28UniSTS
HuRefX141,853,647 - 141,853,895UniSTS
REN88232  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,201,031 - 153,201,274UniSTSGRCh37
Build 36X152,854,225 - 152,854,468RGDNCBI36
CeleraX153,434,748 - 153,434,991RGD
Cytogenetic MapXq28UniSTS
HuRefX141,853,736 - 141,853,979UniSTS
REN88233  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,201,987 - 153,202,215UniSTSGRCh37
Build 36X152,855,181 - 152,855,409RGDNCBI36
CeleraX153,435,704 - 153,435,932RGD
Cytogenetic MapXq28UniSTS
HuRefX141,854,692 - 141,854,920UniSTS
REN88234  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,202,136 - 153,202,373UniSTSGRCh37
Build 36X152,855,330 - 152,855,567RGDNCBI36
CeleraX153,435,853 - 153,436,090RGD
Cytogenetic MapXq28UniSTS
HuRefX141,854,841 - 141,855,078UniSTS
REN88235  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,202,224 - 153,202,470UniSTSGRCh37
Build 36X152,855,418 - 152,855,664RGDNCBI36
CeleraX153,435,941 - 153,436,187RGD
Cytogenetic MapXq28UniSTS
HuRefX141,854,929 - 141,855,175UniSTS
REN88236  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,203,478 - 153,203,702UniSTSGRCh37
Build 36X152,856,672 - 152,856,896RGDNCBI36
CeleraX153,437,195 - 153,437,419RGD
Cytogenetic MapXq28UniSTS
HuRefX141,856,183 - 141,856,407UniSTS
REN88237  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,203,698 - 153,203,943UniSTSGRCh37
Build 36X152,856,892 - 152,857,137RGDNCBI36
CeleraX153,437,415 - 153,437,660RGD
Cytogenetic MapXq28UniSTS
HuRefX141,856,403 - 141,856,648UniSTS
REN88238  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,203,934 - 153,204,183UniSTSGRCh37
Build 36X152,857,128 - 152,857,377RGDNCBI36
CeleraX153,437,651 - 153,437,900RGD
Cytogenetic MapXq28UniSTS
HuRefX141,856,639 - 141,856,888UniSTS
REN88239  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,204,611 - 153,204,875UniSTSGRCh37
Build 36X152,857,805 - 152,858,069RGDNCBI36
CeleraX153,438,328 - 153,438,592RGD
Cytogenetic MapXq28UniSTS
HuRefX141,857,316 - 141,857,580UniSTS
REN88240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,204,859 - 153,205,105UniSTSGRCh37
Build 36X152,858,053 - 152,858,299RGDNCBI36
CeleraX153,438,576 - 153,438,822RGD
Cytogenetic MapXq28UniSTS
HuRefX141,857,564 - 141,857,810UniSTS
REN88241  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,205,082 - 153,205,324UniSTSGRCh37
Build 36X152,858,276 - 152,858,518RGDNCBI36
CeleraX153,438,799 - 153,439,041RGD
Cytogenetic MapXq28UniSTS
HuRefX141,857,787 - 141,858,029UniSTS
REN88242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,205,295 - 153,205,556UniSTSGRCh37
Build 36X152,858,489 - 152,858,750RGDNCBI36
CeleraX153,439,012 - 153,439,273RGD
Cytogenetic MapXq28UniSTS
HuRefX141,858,000 - 141,858,261UniSTS
REN88243  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,205,534 - 153,205,776UniSTSGRCh37
Build 36X152,858,728 - 152,858,970RGDNCBI36
CeleraX153,439,251 - 153,439,493RGD
Cytogenetic MapXq28UniSTS
HuRefX141,858,239 - 141,858,481UniSTS
REN88244  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,205,705 - 153,205,962UniSTSGRCh37
Build 36X152,858,899 - 152,859,156RGDNCBI36
CeleraX153,439,422 - 153,439,679RGD
Cytogenetic MapXq28UniSTS
HuRefX141,858,410 - 141,858,667UniSTS
REN88245  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,205,934 - 153,206,196UniSTSGRCh37
Build 36X152,859,128 - 152,859,390RGDNCBI36
CeleraX153,439,651 - 153,439,913RGD
Cytogenetic MapXq28UniSTS
HuRefX141,858,639 - 141,858,901UniSTS
REN88246  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,205,982 - 153,206,206UniSTSGRCh37
Build 36X152,859,176 - 152,859,400RGDNCBI36
CeleraX153,439,699 - 153,439,923RGD
Cytogenetic MapXq28UniSTS
HuRefX141,858,687 - 141,858,911UniSTS
REN88247  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,206,741 - 153,206,965UniSTSGRCh37
Build 36X152,859,935 - 152,860,159RGDNCBI36
CeleraX153,440,457 - 153,440,681RGD
Cytogenetic MapXq28UniSTS
REN88248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,206,950 - 153,207,209UniSTSGRCh37
Build 36X152,860,144 - 152,860,403RGDNCBI36
CeleraX153,440,666 - 153,440,925RGD
Cytogenetic MapXq28UniSTS
REN88249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,207,205 - 153,207,474UniSTSGRCh37
Build 36X152,860,399 - 152,860,668RGDNCBI36
CeleraX153,440,921 - 153,441,190RGD
Cytogenetic MapXq28UniSTS
REN88250  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,207,453 - 153,207,682UniSTSGRCh37
Build 36X152,860,647 - 152,860,876RGDNCBI36
CeleraX153,441,169 - 153,441,398RGD
Cytogenetic MapXq28UniSTS
HuRefX141,859,874 - 141,860,103UniSTS
REN88251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,207,571 - 153,207,836UniSTSGRCh37
GRCh372033,753,748 - 33,754,971UniSTSGRCh37
Build 36X152,860,765 - 152,861,030RGDNCBI36
Celera2030,502,584 - 30,503,807UniSTS
CeleraX153,441,287 - 153,441,552RGD
Cytogenetic MapXq28UniSTS
HuRefX141,859,992 - 141,860,259UniSTS
REN88252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,207,988 - 153,208,212UniSTSGRCh37
Build 36X152,861,182 - 152,861,406RGDNCBI36
CeleraX153,441,704 - 153,441,928RGD
Cytogenetic MapXq28UniSTS
REN88253  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,208,201 - 153,208,425UniSTSGRCh37
Build 36X152,861,395 - 152,861,619RGDNCBI36
CeleraX153,441,918 - 153,442,142RGD
Cytogenetic MapXq28UniSTS
HuRefX141,860,625 - 141,860,849UniSTS
REN88254  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,208,394 - 153,208,641UniSTSGRCh37
Build 36X152,861,588 - 152,861,835RGDNCBI36
CeleraX153,442,111 - 153,442,358RGD
Cytogenetic MapXq28UniSTS
HuRefX141,860,818 - 141,861,065UniSTS
REN88255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,208,628 - 153,208,887UniSTSGRCh37
Build 36X152,861,822 - 152,862,081RGDNCBI36
CeleraX153,442,345 - 153,442,604RGD
Cytogenetic MapXq28UniSTS
HuRefX141,861,052 - 141,861,311UniSTS
REN88256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,208,866 - 153,209,125UniSTSGRCh37
Build 36X152,862,060 - 152,862,319RGDNCBI36
CeleraX153,442,583 - 153,442,842RGD
Cytogenetic MapXq28UniSTS
HuRefX141,861,290 - 141,861,549UniSTS
REN88257  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,209,103 - 153,209,361UniSTSGRCh37
Build 36X152,862,297 - 152,862,555RGDNCBI36
CeleraX153,442,820 - 153,443,078RGD
Cytogenetic MapXq28UniSTS
HuRefX141,861,527 - 141,861,785UniSTS
REN88258  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,209,338 - 153,209,576UniSTSGRCh37
Build 36X152,862,532 - 152,862,770RGDNCBI36
CeleraX153,443,055 - 153,443,293RGD
Cytogenetic MapXq28UniSTS
HuRefX141,861,762 - 141,862,000UniSTS
REN88259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,209,546 - 153,209,799UniSTSGRCh37
Build 36X152,862,740 - 152,862,993RGDNCBI36
CeleraX153,443,263 - 153,443,516RGD
Cytogenetic MapXq28UniSTS
HuRefX141,861,970 - 141,862,223UniSTS
REN88260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,209,777 - 153,210,015UniSTSGRCh37
Build 36X152,862,971 - 152,863,209RGDNCBI36
CeleraX153,443,494 - 153,443,732RGD
Cytogenetic MapXq28UniSTS
HuRefX141,862,201 - 141,862,439UniSTS
REN88261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,209,945 - 153,210,173UniSTSGRCh37
Build 36X152,863,139 - 152,863,367RGDNCBI36
CeleraX153,443,662 - 153,443,890RGD
Cytogenetic MapXq28UniSTS
HuRefX141,862,369 - 141,862,597UniSTS
REN88262  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,210,152 - 153,210,410UniSTSGRCh37
Build 36X152,863,346 - 152,863,604RGDNCBI36
CeleraX153,443,869 - 153,444,123RGD
Cytogenetic MapXq28UniSTS
REN88263  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,210,270 - 153,210,512UniSTSGRCh37
Build 36X152,863,464 - 152,863,706RGDNCBI36
CeleraX153,443,983 - 153,444,225RGD
Cytogenetic MapXq28UniSTS
REN88264  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,210,949 - 153,211,213UniSTSGRCh37
Build 36X152,864,143 - 152,864,407RGDNCBI36
CeleraX153,444,661 - 153,444,925RGD
Cytogenetic MapXq28UniSTS
HuRefX141,863,667 - 141,863,931UniSTS
REN88265  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,211,190 - 153,211,433UniSTSGRCh37
Build 36X152,864,384 - 152,864,627RGDNCBI36
CeleraX153,444,902 - 153,445,143RGD
Cytogenetic MapXq28UniSTS
HuRefX141,863,908 - 141,864,149UniSTS
REN88266  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,211,411 - 153,211,664UniSTSGRCh37
Build 36X152,864,605 - 152,864,858RGDNCBI36
CeleraX153,445,121 - 153,445,375RGD
Cytogenetic MapXq28UniSTS
HuRefX141,864,127 - 141,864,381UniSTS
REN88267  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,211,641 - 153,211,869UniSTSGRCh37
Build 36X152,864,835 - 152,865,063RGDNCBI36
CeleraX153,445,352 - 153,445,580RGD
Cytogenetic MapXq28UniSTS
HuRefX141,864,358 - 141,864,586UniSTS
REN88268  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,211,843 - 153,212,088UniSTSGRCh37
Build 36X152,865,037 - 152,865,282RGDNCBI36
CeleraX153,445,554 - 153,445,799RGD
Cytogenetic MapXq28UniSTS
HuRefX141,864,560 - 141,864,805UniSTS
stSG603705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,200,990 - 153,202,243UniSTSGRCh37
Build 36X152,854,184 - 152,855,437RGDNCBI36
CeleraX153,434,707 - 153,435,960RGD
HuRefX141,853,695 - 141,854,948UniSTS
stSG603707  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,203,567 - 153,205,061UniSTSGRCh37
Build 36X152,856,761 - 152,858,255RGDNCBI36
CeleraX153,437,284 - 153,438,778RGD
HuRefX141,856,272 - 141,857,766UniSTS
stSG603708  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,204,935 - 153,205,942UniSTSGRCh37
Build 36X152,858,129 - 152,859,136RGDNCBI36
CeleraX153,438,652 - 153,439,659RGD
HuRefX141,857,640 - 141,858,647UniSTS
stSG603710  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,207,326 - 153,208,636UniSTSGRCh37
Build 36X152,860,520 - 152,861,830RGDNCBI36
CeleraX153,441,042 - 153,442,353RGD
HuRefX141,859,747 - 141,861,060UniSTS
stSG603711  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,208,617 - 153,209,708UniSTSGRCh37
Build 36X152,861,811 - 152,862,902RGDNCBI36
CeleraX153,442,334 - 153,443,425RGD
HuRefX141,861,041 - 141,862,132UniSTS
stSG603712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,209,688 - 153,210,871UniSTSGRCh37
Build 36X152,862,882 - 152,864,065RGDNCBI36
CeleraX153,443,405 - 153,444,584RGD
HuRefX141,862,112 - 141,863,589UniSTS
stSG603713  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,210,851 - 153,211,237UniSTSGRCh37
Build 36X152,864,045 - 152,864,431RGDNCBI36
CeleraX153,444,564 - 153,444,949RGD
HuRefX141,863,569 - 141,863,955UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4923
Count of miRNA genes:1094
Interacting mature miRNAs:1370
Transcripts:ENST00000369997, ENST00000393700, ENST00000412763, ENST00000423624, ENST00000442361, ENST00000451114, ENST00000457282, ENST00000462086, ENST00000464227, ENST00000471056, ENST00000475904
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 1281 1858 609 99 1508 62 2693 463 1863 307 225 919 38 1095 1656 2
Low 1119 1124 1098 512 412 389 1633 1684 1841 82 1175 608 134 1 109 1113 4 2
Below cutoff 36 9 19 13 28 14 30 47 29 28 57 82 2 19

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000369997   ⟹   ENSP00000359014
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,935,283 - 153,944,687 (-)Ensembl
RefSeq Acc Id: ENST00000393700   ⟹   ENSP00000377303
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,935,269 - 153,944,643 (-)Ensembl
RefSeq Acc Id: ENST00000423624   ⟹   ENSP00000394220
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,935,286 - 153,944,626 (-)Ensembl
RefSeq Acc Id: ENST00000442361   ⟹   ENSP00000399278
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,935,999 - 153,943,943 (-)Ensembl
RefSeq Acc Id: ENST00000451114   ⟹   ENSP00000409034
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,935,333 - 153,940,215 (-)Ensembl
RefSeq Acc Id: ENST00000457282   ⟹   ENSP00000405759
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,935,275 - 153,941,969 (-)Ensembl
RefSeq Acc Id: ENST00000462086
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,942,245 - 153,943,632 (-)Ensembl
RefSeq Acc Id: ENST00000464227
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,943,058 - 153,944,232 (-)Ensembl
RefSeq Acc Id: ENST00000471056
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,943,535 - 153,944,611 (-)Ensembl
RefSeq Acc Id: ENST00000475904
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,943,614 - 153,944,643 (-)Ensembl
RefSeq Acc Id: NM_002910   ⟹   NP_002901
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,935,269 - 153,944,643 (-)NCBI
GRCh37X153,200,722 - 153,210,232 (-)ENTREZGENE
Build 36X152,853,917 - 152,863,426 (-)NCBI Archive
HuRefX141,853,485 - 141,862,600 (-)NCBI
CHM1_1X153,075,217 - 153,084,644 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029698   ⟹   XP_016885187
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,935,263 - 153,944,598 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002901   ⟸   NM_002910
- UniProtKB: P51606 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885187   ⟸   XM_017029698
- Peptide Label: isoform X1
- UniProtKB: P51606 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000394220   ⟸   ENST00000423624
RefSeq Acc Id: ENSP00000409034   ⟸   ENST00000451114
RefSeq Acc Id: ENSP00000399278   ⟸   ENST00000442361
RefSeq Acc Id: ENSP00000405759   ⟸   ENST00000457282
RefSeq Acc Id: ENSP00000377303   ⟸   ENST00000393700
RefSeq Acc Id: ENSP00000359014   ⟸   ENST00000369997

Promoters
RGD ID:6809176
Promoter ID:HG_KWN:68592
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000061104
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,859,956 - 152,860,456 (-)MPROMDB
RGD ID:6808689
Promoter ID:HG_KWN:68593
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000369997,   ENST00000393700,   OTTHUMT00000061107,   OTTHUMT00000129559,   OTTHUMT00000129560,   OTTHUMT00000129561,   OTTHUMT00000316203,   OTTHUMT00000316204
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,862,971 - 152,863,471 (-)MPROMDB
RGD ID:6850324
Promoter ID:EP39002
Type:single initiation site
Name:HS_RENBP
Description:Renin-binding protein, RENBP gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:kideny, liver, pituitary, adrenal gland
Experiment Methods:Primer extension with homologous sequence ladder
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,863,426 - 152,863,486EPD
RGD ID:13628560
Promoter ID:EPDNEW_H29518
Type:initiation region
Name:RENBP_1
Description:renin binding protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29519  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,944,643 - 153,944,703EPDNEW
RGD ID:13628562
Promoter ID:EPDNEW_H29519
Type:initiation region
Name:RENBP_2
Description:renin binding protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29518  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,944,780 - 153,944,840EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153929344-154367160)x3 copy number gain See cases [RCV000050852] ChrX:153929344..154367160 [GRCh38]
ChrX:153333946..153595528 [GRCh37]
ChrX:152847991..153248722 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153722500-154367160)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|See cases [RCV000052524] ChrX:153722500..154367160 [GRCh38]
ChrX:152641149..153248722 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153769547-154394658)x2 copy number gain See cases [RCV000052525] ChrX:153769547..154394658 [GRCh38]
ChrX:152688196..153276194 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153777340-154397779)x3 copy number gain See cases [RCV000052527] ChrX:153777340..154397779 [GRCh38]
ChrX:153333946..153626120 [GRCh37]
ChrX:152695989..153279314 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153787044-154397779)x2 copy number gain See cases [RCV000052528] ChrX:153787044..154397779 [GRCh38]
ChrX:153333946..153626120 [GRCh37]
ChrX:152705693..153279314 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153932045-155611794)x3 copy number gain See cases [RCV000052529] ChrX:153932045..155611794 [GRCh38]
ChrX:152850692..154494649 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153504314-154144797)x2 copy number gain See cases [RCV000052492] ChrX:153504314..154144797 [GRCh38]
ChrX:152422966..153063464 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] ChrX:153585420..154427385 [GRCh38]
ChrX:152864376..153655730 [GRCh37]
ChrX:152504072..153308924 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153590730-154380801)x2 copy number gain See cases [RCV000052522] ChrX:153590730..154380801 [GRCh38]
ChrX:152864376..153609161 [GRCh37]
ChrX:152509382..153262355 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153714542-154380803)x2 copy number gain See cases [RCV000052523] ChrX:153714542..154380803 [GRCh38]
ChrX:152633191..153262357 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq28(chrX:153855152-154092314)x2 copy number gain See cases [RCV000135840] ChrX:153855152..154092314 [GRCh38]
ChrX:152773801..153010966 [NCBI36]
ChrX:Xq28
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 Xq28(chrX:153296806-154604471)x2 copy number gain See cases [RCV000135451] ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 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 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 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 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28
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 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153667032-154394658)x2 copy number gain See cases [RCV000137536] ChrX:153667032..154394658 [GRCh38]
ChrX:152585681..153276194 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153813894-154140759)x2 copy number gain See cases [RCV000137153] ChrX:153813894..154140759 [GRCh38]
ChrX:152732543..153059427 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 copy number gain See cases [RCV000138393] ChrX:153727116..154555423 [GRCh38]
ChrX:153333946..153783638 [GRCh37]
ChrX:152645765..153436832 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153813894-154383071)x2 copy number gain See cases [RCV000140524] ChrX:153813894..154383071 [GRCh38]
ChrX:153079349..153611431 [GRCh37]
ChrX:152732543..153264625 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153451351-154230630)x2 copy number gain See cases [RCV000140532] ChrX:153451351..154230630 [GRCh38]
ChrX:152716809..153496099 [GRCh37]
ChrX:152370003..153149293 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153802827-154294817)x2 copy number gain See cases [RCV000140537] ChrX:153802827..154294817 [GRCh38]
ChrX:153068282..153523170 [GRCh37]
ChrX:152721476..153176364 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153861449-154140759)x2 copy number gain See cases [RCV000143114] ChrX:153861449..154140759 [GRCh38]
ChrX:152780098..153059427 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xq28(chrX:153047627-153555804)x2 copy number gain See cases [RCV000239929] ChrX:153047627..153555804 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152912867-153236360)x2 copy number gain See cases [RCV000239969] ChrX:152912867..153236360 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152993910-153555804)x2 copy number gain See cases [RCV000240396] ChrX:152993910..153555804 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:152970475-153524157)x2 copy number gain See cases [RCV000447506] ChrX:152970475..153524157 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)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 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:152886474-153368990)x2 copy number gain See cases [RCV000448796] ChrX:152886474..153368990 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:153097608-153681801)x2 copy number gain See cases [RCV000510362] ChrX:153097608..153681801 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:153138672-153665655) copy number gain Microcytic anemia [RCV000626549] ChrX:153138672..153665655 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152899437-153624564)x2 copy number gain See cases [RCV000512403] ChrX:152899437..153624564 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NC_000023.10:g.(?_153128098)_(153599633_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000645140] ChrX:153128098..153599633 [GRCh37]
ChrX:Xq28
pathogenic
Single allele duplication not provided [RCV000677999] ChrX:152912867..153236360 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152628304-153594168)x2 copy number gain not provided [RCV000684738] ChrX:152628304..153594168 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152941302-153438781)x3 copy number gain not provided [RCV000684739] ChrX:152941302..153438781 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:153123907-153431401)x2 copy number gain not provided [RCV000684741] ChrX:153123907..153431401 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152954010)_(153599633_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000707841] ChrX:152954010..153599633 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153128823)_(153416424_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000708432] ChrX:153128823..153416424 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153128118)_(153416424_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000707765] ChrX:153128118..153416424 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153170600)_(153409869_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000708104] ChrX:153170600..153409869 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153184286)_(153409869_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000708531] ChrX:153184286..153409869 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152806628-153626649)x2 copy number gain not provided [RCV000753922] ChrX:152806628..153626649 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153184816-153626794)x3 copy number gain not provided [RCV000753930] ChrX:153184816..153626794 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_002910.6(RENBP):c.1078-10G>T single nucleotide variant not provided [RCV000966814] ChrX:153935586 [GRCh38]
ChrX:153201039 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_002910.6(RENBP):c.1166-4G>A single nucleotide variant not provided [RCV000896941] ChrX:153935408 [GRCh38]
ChrX:153200861 [GRCh37]
ChrX:Xq28
benign
NM_002910.6(RENBP):c.629C>T (p.Ala210Val) single nucleotide variant not provided [RCV000968447] ChrX:153942913 [GRCh38]
ChrX:153208365 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:153174571-153609996) copy number gain Syndromic X-linked intellectual disability Lubs type [RCV000767661] ChrX:153174571..153609996 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NC_000023.10:g.(?_153137587)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000794134] ChrX:153137587..153363142 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153154008-153624566)x2 copy number gain not provided [RCV000846110] ChrX:153154008..153624566 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153128098)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000801357] ChrX:153128098..153363142 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152990712)_(153650075_?)del deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000823256] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153128108)_(153609567_?)dup duplication Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000795425] ChrX:153128108..153609567 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq28(chrX:153105400-153438105)x2 copy number gain not provided [RCV000846316] ChrX:153105400..153438105 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq28(chrX:153023149-153345755)x2 copy number gain not provided [RCV001007367] ChrX:153023149..153345755 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:153029046-153567369)x3 copy number gain not provided [RCV001007368] ChrX:153029046..153567369 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152954010)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001033929] ChrX:152954010..153363142 [GRCh37]
ChrX:Xq28
pathogenic
NM_002910.6(RENBP):c.304C>T (p.Leu102=) single nucleotide variant not provided [RCV001171652] ChrX:153943704 [GRCh38]
ChrX:153209156 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_152990712)_(153650075_?)dup duplication Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001031812] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq28(chrX:152516781-153368573)x2 copy number gain not provided [RCV001007365] ChrX:152516781..153368573 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153113943-153624215)x2 copy number gain not provided [RCV001260058] ChrX:153113943..153624215 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153135257-153594096)x3 copy number gain not provided [RCV001260059] ChrX:153135257..153594096 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152631130-153240286)x3 copy number gain not provided [RCV001260062] ChrX:152631130..153240286 [GRCh37]
ChrX:Xq28
uncertain significance
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:9959 AgrOrtholog
COSMIC RENBP COSMIC
Ensembl Genes ENSG00000102032 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000359014 UniProtKB/TrEMBL
  ENSP00000377303 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000394220 UniProtKB/TrEMBL
  ENSP00000399278 UniProtKB/TrEMBL
  ENSP00000405759 UniProtKB/TrEMBL
  ENSP00000409034 UniProtKB/TrEMBL
Ensembl Transcript ENST00000369997 UniProtKB/TrEMBL
  ENST00000393700 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000423624 UniProtKB/TrEMBL
  ENST00000442361 UniProtKB/TrEMBL
  ENST00000451114 UniProtKB/TrEMBL
  ENST00000457282 UniProtKB/TrEMBL
Gene3D-CATH 1.50.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000102032 GTEx
HGNC ID HGNC:9959 ENTREZGENE
Human Proteome Map RENBP Human Proteome Map
InterPro 6-hairpin_glycosidase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6hp_glycosidase-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AGE_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5973 UniProtKB/Swiss-Prot
NCBI Gene 5973 ENTREZGENE
OMIM 312420 OMIM
PharmGKB PA34325 PharmGKB
Superfamily-SCOP SSF48208 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6NKZ2_HUMAN UniProtKB/TrEMBL
  F8WE83_HUMAN UniProtKB/TrEMBL
  H7C1A7_HUMAN UniProtKB/TrEMBL
  H7C2G7_HUMAN UniProtKB/TrEMBL
  H7C317_HUMAN UniProtKB/TrEMBL
  P51606 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4DNZ3 UniProtKB/Swiss-Prot
  Q96BI6 UniProtKB/Swiss-Prot