ATP6AP1 (ATPase H+ transporting accessory protein 1) - Rat Genome Database

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Gene: ATP6AP1 (ATPase H+ transporting accessory protein 1) Homo sapiens
Analyze
Symbol: ATP6AP1
Name: ATPase H+ transporting accessory protein 1
RGD ID: 733467
HGNC Page HGNC
Description: Predicted to have small GTPase binding activity. Involved in cellular iron ion homeostasis and cellular response to increased oxygen levels. Localizes to extracellular exosome. Implicated in immunodeficiency 47.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 16A; Ac45; ATP6IP1; ATP6S1; ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1; ATPase, H+ transporting, lysosomal accessory protein 1; ATPase, H+ transporting, lysosomal interacting protein 1; CF2; H-ATPase subunit; MGC129781; V-ATPase Ac45 subunit; V-ATPase S1 accessory protein; V-ATPase subunit S1; V-type proton ATPase subunit S1; vacuolar proton pump subunit S1; VATPS1; XAP-3; XAP3
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 EnsemblX154,428,633 - 154,436,516 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX154,428,645 - 154,436,516 (+)EnsemblGRCh38hg38GRCh38
GRCh38X154,428,669 - 154,436,516 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,657,023 - 153,664,862 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,310,172 - 153,318,056 (+)NCBINCBI36hg18NCBI36
Build 34X153,177,867 - 153,183,641NCBI
CeleraX153,818,024 - 153,825,908 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,234,564 - 142,269,596 (+)NCBIHuRef
CHM1_1X153,568,616 - 153,576,501 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8034313   PMID:8248200   PMID:8281148   PMID:8733135   PMID:9210392   PMID:9442887   PMID:10221984   PMID:10224039   PMID:10336633   PMID:10340843   PMID:10440860   PMID:11076863  
PMID:11923311   PMID:11983866   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15489336   PMID:16169070   PMID:16303743   PMID:16344560   PMID:16381901   PMID:17290355   PMID:19056867  
PMID:19246570   PMID:19913121   PMID:20628086   PMID:21622230   PMID:21873635   PMID:21987572   PMID:21988832   PMID:22044156   PMID:22268729   PMID:22658674   PMID:22810585   PMID:22939629  
PMID:23284715   PMID:23376485   PMID:25437307   PMID:25496667   PMID:25640309   PMID:25713363   PMID:26186194   PMID:26496610   PMID:26598620   PMID:26638075   PMID:26972000   PMID:27231034  
PMID:27342126   PMID:27432908   PMID:27576135   PMID:27880917   PMID:28296633   PMID:28514442   PMID:28692057   PMID:29127204   PMID:29180619   PMID:29192153   PMID:29395067   PMID:29568061  
PMID:30033366   PMID:30166553   PMID:31056421   PMID:31527615   PMID:31536960   PMID:32058063   PMID:32353859   PMID:32814053   PMID:32877691   PMID:33060197   PMID:33144569  


Genomics

Comparative Map Data
ATP6AP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX154,428,633 - 154,436,516 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX154,428,645 - 154,436,516 (+)EnsemblGRCh38hg38GRCh38
GRCh38X154,428,669 - 154,436,516 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,657,023 - 153,664,862 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,310,172 - 153,318,056 (+)NCBINCBI36hg18NCBI36
Build 34X153,177,867 - 153,183,641NCBI
CeleraX153,818,024 - 153,825,908 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,234,564 - 142,269,596 (+)NCBIHuRef
CHM1_1X153,568,616 - 153,576,501 (+)NCBICHM1_1
Atp6ap1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X73,340,703 - 73,348,327 (+)NCBIGRCm39mm39
GRCm39 EnsemblX73,340,703 - 73,348,327 (+)Ensembl
GRCm38X74,297,097 - 74,304,721 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX74,297,097 - 74,304,721 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X71,542,436 - 71,550,060 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X70,549,866 - 70,557,411 (+)NCBImm8
CeleraX65,550,888 - 65,558,512 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX37.96NCBI
Atp6ap1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X152,079,954 - 152,087,034 (+)NCBI
Rnor_6.0 EnsemblX156,407,937 - 156,415,145 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X156,407,973 - 156,415,053 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01152,148,120 - 152,155,200 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X160,306,354 - 160,313,434 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X160,382,734 - 160,389,815 (-)NCBI
Celera1135,809,720 - 135,816,800 (-)NCBICelera
Cytogenetic MapXq37NCBI
Atp6ap1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955580927,114 - 934,734 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955580927,546 - 934,633 (+)NCBIChiLan1.0ChiLan1.0
ATP6AP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X153,740,751 - 153,748,621 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX153,740,751 - 153,748,621 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X143,870,421 - 143,878,288 (+)NCBIMhudiblu_PPA_v0panPan3
ATP6AP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X122,133,314 - 122,140,949 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX122,133,325 - 122,140,447 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X125,274,997 - 125,282,640 (+)NCBI
UMICH_Zoey_3.1X121,044,023 - 121,051,666 (+)NCBI
UNSW_CanFamBas_1.0X123,559,169 - 123,566,812 (+)NCBI
UU_Cfam_GSD_1.0X123,320,845 - 123,328,488 (+)NCBI
Atp6ap1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,441,750 - 119,450,401 (+)NCBI
SpeTri2.0NW_0049368091,179,507 - 1,188,172 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATP6AP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX124,952,500 - 124,960,344 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X124,952,532 - 124,960,344 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X143,693,025 - 143,696,039 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ATP6AP1
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Atp6ap1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624946885,400 - 902,082 (+)NCBI

Position Markers
WI-9327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,664,581 - 153,664,698UniSTSGRCh37
Build 36X153,317,775 - 153,317,892RGDNCBI36
CeleraX153,825,627 - 153,825,744RGD
Cytogenetic MapXq28UniSTS
GeneMap99-GB4 RH MapX353.15UniSTS
Whitehead-RH MapX324.6UniSTS
SGC34656  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,678,832 - 153,678,956UniSTSGRCh37
Build 36X153,332,026 - 153,332,150RGDNCBI36
CeleraX153,839,875 - 153,839,999RGD
Cytogenetic MapXq28UniSTS
HuRefX142,256,439 - 142,256,563UniSTS
GeneMap99-GB4 RH MapX353.15UniSTS
Whitehead-RH MapX324.7UniSTS
STS-M78866  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,664,646 - 153,664,733UniSTSGRCh37
Build 36X153,317,840 - 153,317,927RGDNCBI36
CeleraX153,825,692 - 153,825,779RGD
Cytogenetic MapXq28UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS
sWXD2362  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,664,187 - 153,664,785UniSTSGRCh37
Build 36X153,317,381 - 153,317,979RGDNCBI36
CeleraX153,825,233 - 153,825,831RGD
Cytogenetic MapXq28UniSTS
DXS7587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,664,646 - 153,664,733UniSTSGRCh37
Build 36X153,317,840 - 153,317,927RGDNCBI36
CeleraX153,825,692 - 153,825,779RGD
Cytogenetic MapXq28UniSTS
G65808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,658,788 - 153,659,688UniSTSGRCh37
Build 36X153,311,982 - 153,312,882RGDNCBI36
CeleraX153,819,834 - 153,820,734RGD
Cytogenetic MapXq28UniSTS
HuRefX142,236,374 - 142,237,274UniSTS
G65809  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,657,895 - 153,658,852UniSTSGRCh37
Build 36X153,311,089 - 153,312,046RGDNCBI36
CeleraX153,818,941 - 153,819,898RGD
Cytogenetic MapXq28UniSTS
HuRefX142,235,481 - 142,236,438UniSTS
G67208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,670,040 - 153,670,769UniSTSGRCh37
Build 36X153,323,234 - 153,323,963RGDNCBI36
CeleraX153,831,084 - 153,831,813RGD
Cytogenetic MapXq28UniSTS
HuRefX142,247,689 - 142,248,418UniSTS
G67209  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,668,601 - 153,669,748UniSTSGRCh37
Build 36X153,321,795 - 153,322,942RGDNCBI36
CeleraX153,829,645 - 153,830,792RGD
Cytogenetic MapXq28UniSTS
HuRefX142,246,250 - 142,247,397UniSTS
G67210  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,667,720 - 153,668,360UniSTSGRCh37
Build 36X153,320,914 - 153,321,554RGDNCBI36
CeleraX153,828,765 - 153,829,404RGD
Cytogenetic MapXq28UniSTS
HuRefX142,245,370 - 142,246,009UniSTS
G67211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,666,442 - 153,667,637UniSTSGRCh37
Build 36X153,319,636 - 153,320,831RGDNCBI36
CeleraX153,827,487 - 153,828,682RGD
Cytogenetic MapXq28UniSTS
HuRefX142,244,092 - 142,245,287UniSTS
ECD00841  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,690,434 - 153,691,322UniSTSGRCh37
Build 36X153,343,628 - 153,344,516RGDNCBI36
CeleraX153,851,485 - 153,852,373RGD
Cytogenetic MapXq28UniSTS
HuRefX142,267,597 - 142,268,485UniSTS
ECD01088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,688,606 - 153,689,484UniSTSGRCh37
Build 36X153,341,800 - 153,342,678RGDNCBI36
CeleraX153,849,657 - 153,850,535RGD
Cytogenetic MapXq28UniSTS
HuRefX142,265,769 - 142,266,647UniSTS
ECD01110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,691,525 - 153,692,402UniSTSGRCh37
Build 36X153,344,719 - 153,345,596RGDNCBI36
CeleraX153,852,576 - 153,853,453RGD
Cytogenetic MapXq28UniSTS
HuRefX142,268,688 - 142,269,566UniSTS
ECD01231  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,689,521 - 153,690,393UniSTSGRCh37
Build 36X153,342,715 - 153,343,587RGDNCBI36
CeleraX153,850,572 - 153,851,444RGD
Cytogenetic MapXq28UniSTS
HuRefX142,266,684 - 142,267,556UniSTS
ECD01433  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,686,765 - 153,687,630UniSTSGRCh37
Build 36X153,339,959 - 153,340,824RGDNCBI36
CeleraX153,847,816 - 153,848,681RGD
Cytogenetic MapXq28UniSTS
HuRefX142,263,928 - 142,264,793UniSTS
ECD02155  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,687,652 - 153,688,491UniSTSGRCh37
Build 36X153,340,846 - 153,341,685RGDNCBI36
CeleraX153,848,703 - 153,849,542RGD
Cytogenetic MapXq28UniSTS
HuRefX142,264,815 - 142,265,654UniSTS
ECD02625  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,663,396 - 153,664,219UniSTSGRCh37
Build 36X153,316,590 - 153,317,413RGDNCBI36
CeleraX153,824,442 - 153,825,265RGD
Cytogenetic MapXq28UniSTS
HuRefX142,240,982 - 142,241,805UniSTS
ECD02847  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,664,271 - 153,665,086UniSTSGRCh37
Build 36X153,317,465 - 153,318,280RGDNCBI36
CeleraX153,825,317 - 153,826,132RGD
Cytogenetic MapXq28UniSTS
ECD04436  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,669,103 - 153,669,867UniSTSGRCh37
Build 36X153,322,297 - 153,323,061RGDNCBI36
CeleraX153,830,147 - 153,830,911RGD
Cytogenetic MapXq28UniSTS
HuRefX142,246,752 - 142,247,516UniSTS
ECD04849  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,669,924 - 153,670,676UniSTSGRCh37
Build 36X153,323,118 - 153,323,870RGDNCBI36
CeleraX153,830,968 - 153,831,720RGD
Cytogenetic MapXq28UniSTS
HuRefX142,247,573 - 142,248,325UniSTS
ECD04850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,670,724 - 153,671,476UniSTSGRCh37
Build 36X153,323,918 - 153,324,670RGDNCBI36
CeleraX153,831,768 - 153,832,520RGD
Cytogenetic MapXq28UniSTS
HuRefX142,248,373 - 142,249,125UniSTS
ECD04987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,668,251 - 153,668,999UniSTSGRCh37
Build 36X153,321,445 - 153,322,193RGDNCBI36
CeleraX153,829,295 - 153,830,043RGD
Cytogenetic MapXq28UniSTS
HuRefX142,245,900 - 142,246,648UniSTS
ECD06265  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,662,448 - 153,663,161UniSTSGRCh37
Build 36X153,315,642 - 153,316,355RGDNCBI36
CeleraX153,823,494 - 153,824,207RGD
Cytogenetic MapXq28UniSTS
HuRefX142,240,034 - 142,240,747UniSTS
ECD06788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,661,679 - 153,662,378UniSTSGRCh37
Build 36X153,314,873 - 153,315,572RGDNCBI36
CeleraX153,822,725 - 153,823,424RGD
Cytogenetic MapXq28UniSTS
HuRefX142,239,265 - 142,239,964UniSTS
ECD07050  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,659,401 - 153,660,093UniSTSGRCh37
Build 36X153,312,595 - 153,313,287RGDNCBI36
CeleraX153,820,447 - 153,821,139RGD
Cytogenetic MapXq28UniSTS
HuRefX142,236,987 - 142,237,679UniSTS
ECD07086  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,676,733 - 153,677,424UniSTSGRCh37
Build 36X153,329,927 - 153,330,618RGDNCBI36
CeleraX153,837,776 - 153,838,467RGD
Cytogenetic MapXq28UniSTS
HuRefX142,254,305 - 142,254,997UniSTS
ECD07189  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,667,026 - 153,667,714UniSTSGRCh37
Build 36X153,320,220 - 153,320,908RGDNCBI36
CeleraX153,828,071 - 153,828,759RGD
Cytogenetic MapXq28UniSTS
HuRefX142,244,676 - 142,245,364UniSTS
ECD07225  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,660,888 - 153,661,575UniSTSGRCh37
Build 36X153,314,082 - 153,314,769RGDNCBI36
CeleraX153,821,934 - 153,822,621RGD
Cytogenetic MapXq28UniSTS
HuRefX142,238,474 - 142,239,161UniSTS
ECD07324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,671,574 - 153,672,258UniSTSGRCh37
Build 36X153,324,768 - 153,325,452RGDNCBI36
CeleraX153,832,618 - 153,833,302RGD
Cytogenetic MapXq28UniSTS
HuRefX142,249,223 - 142,249,907UniSTS
ECD07603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,660,137 - 153,660,814UniSTSGRCh37
Build 36X153,313,331 - 153,314,008RGDNCBI36
CeleraX153,821,183 - 153,821,860RGD
Cytogenetic MapXq28UniSTS
HuRefX142,237,723 - 142,238,400UniSTS
ECD08010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,666,347 - 153,667,013UniSTSGRCh37
Build 36X153,319,541 - 153,320,207RGDNCBI36
CeleraX153,827,392 - 153,828,058RGD
Cytogenetic MapXq28UniSTS
HuRefX142,243,997 - 142,244,663UniSTS
ECD09271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,674,172 - 153,674,805UniSTSGRCh37
Build 36X153,327,366 - 153,327,999RGDNCBI36
CeleraX153,835,215 - 153,835,848RGD
Cytogenetic MapXq28UniSTS
HuRefX142,251,757 - 142,252,390UniSTS
ECD09692  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,673,520 - 153,674,142UniSTSGRCh37
Build 36X153,326,714 - 153,327,336RGDNCBI36
CeleraX153,834,563 - 153,835,185RGD
Cytogenetic MapXq28UniSTS
HuRefX142,251,105 - 142,251,727UniSTS
ECD09883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,675,160 - 153,675,777UniSTSGRCh37
Build 36X153,328,354 - 153,328,971RGDNCBI36
CeleraX153,836,203 - 153,836,820RGD
Cytogenetic MapXq28UniSTS
HuRefX142,252,745 - 142,253,362UniSTS
ECD10047  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,679,265 - 153,679,878UniSTSGRCh37
Build 36X153,332,459 - 153,333,072RGDNCBI36
CeleraX153,840,308 - 153,840,921RGD
Cytogenetic MapXq28UniSTS
HuRefX142,256,872 - 142,257,485UniSTS
ECD13703  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,657,178 - 153,657,689UniSTSGRCh37
Build 36X153,310,372 - 153,310,883RGDNCBI36
CeleraX153,818,224 - 153,818,735RGD
Cytogenetic MapXq28UniSTS
HuRefX142,234,764 - 142,235,275UniSTS
ECD16655  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,655,540 - 153,655,971UniSTSGRCh37
Build 36X153,308,734 - 153,309,165RGDNCBI36
CeleraX153,816,587 - 153,817,018RGD
Cytogenetic MapXq28UniSTS
HuRefX142,233,424 - 142,233,855UniSTS
ECD17986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,657,932 - 153,658,309UniSTSGRCh37
Build 36X153,311,126 - 153,311,503RGDNCBI36
CeleraX153,818,978 - 153,819,355RGD
Cytogenetic MapXq28UniSTS
HuRefX142,235,518 - 142,235,895UniSTS
ECD21139  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,656,782 - 153,657,042UniSTSGRCh37
Build 36X153,309,976 - 153,310,236RGDNCBI36
CeleraX153,817,828 - 153,818,088RGD
Cytogenetic MapXq28UniSTS
HuRefX142,234,368 - 142,234,628UniSTS
ECD23405  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,655,246 - 153,655,436UniSTSGRCh37
Build 36X153,308,440 - 153,308,630RGDNCBI36
CeleraX153,816,293 - 153,816,483RGD
Cytogenetic MapXq28UniSTS
HuRefX142,233,130 - 142,233,320UniSTS
ECD23475  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,680,931 - 153,681,119UniSTSGRCh37
Build 36X153,334,125 - 153,334,313RGDNCBI36
CeleraX153,841,974 - 153,842,162RGD
Cytogenetic MapXq28UniSTS
HuRefX142,258,538 - 142,258,726UniSTS
ECD23672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,674,877 - 153,675,058UniSTSGRCh37
Build 36X153,328,071 - 153,328,252RGDNCBI36
CeleraX153,835,920 - 153,836,101RGD
Cytogenetic MapXq28UniSTS
HuRefX142,252,462 - 142,252,643UniSTS
ECD23906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,676,196 - 153,676,366UniSTSGRCh37
Build 36X153,329,390 - 153,329,560RGDNCBI36
CeleraX153,837,239 - 153,837,409RGD
Cytogenetic MapXq28UniSTS
HuRefX142,253,781 - 142,253,951UniSTS
REN89522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,655,222 - 153,655,459UniSTSGRCh37
Build 36X153,308,416 - 153,308,653RGDNCBI36
CeleraX153,816,269 - 153,816,506RGD
Cytogenetic MapXq28UniSTS
HuRefX142,233,106 - 142,233,343UniSTS
REN89523  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,655,437 - 153,655,668UniSTSGRCh37
Build 36X153,308,631 - 153,308,862RGDNCBI36
CeleraX153,816,484 - 153,816,715RGD
Cytogenetic MapXq28UniSTS
HuRefX142,233,321 - 142,233,552UniSTS
REN89524  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,655,648 - 153,655,888UniSTSGRCh37
Build 36X153,308,842 - 153,309,082RGDNCBI36
CeleraX153,816,695 - 153,816,935RGD
Cytogenetic MapXq28UniSTS
HuRefX142,233,532 - 142,233,772UniSTS
REN89525  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,655,742 - 153,655,973UniSTSGRCh37
Build 36X153,308,936 - 153,309,167RGDNCBI36
CeleraX153,816,789 - 153,817,020RGD
Cytogenetic MapXq28UniSTS
HuRefX142,233,626 - 142,233,857UniSTS
REN89526  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,655,906 - 153,656,141UniSTSGRCh37
Build 36X153,309,100 - 153,309,335RGDNCBI36
CeleraX153,816,953 - 153,817,187RGD
Cytogenetic MapXq28UniSTS
REN89527  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,656,291 - 153,656,531UniSTSGRCh37
Build 36X153,309,485 - 153,309,725RGDNCBI36
CeleraX153,817,337 - 153,817,577RGD
Cytogenetic MapXq28UniSTS
REN89528  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,656,529 - 153,656,778UniSTSGRCh37
Build 36X153,309,723 - 153,309,972RGDNCBI36
CeleraX153,817,575 - 153,817,824RGD
Cytogenetic MapXq28UniSTS
REN89529  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,656,776 - 153,657,001UniSTSGRCh37
Build 36X153,309,970 - 153,310,195RGDNCBI36
CeleraX153,817,822 - 153,818,047RGD
Cytogenetic MapXq28UniSTS
HuRefX142,234,362 - 142,234,587UniSTS
REN89530  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,656,787 - 153,657,044UniSTSGRCh37
Build 36X153,309,981 - 153,310,238RGDNCBI36
CeleraX153,817,833 - 153,818,090RGD
Cytogenetic MapXq28UniSTS
HuRefX142,234,373 - 142,234,630UniSTS
REN89531  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,657,178 - 153,657,435UniSTSGRCh37
Build 36X153,310,372 - 153,310,629RGDNCBI36
CeleraX153,818,224 - 153,818,481RGD
Cytogenetic MapXq28UniSTS
HuRefX142,234,764 - 142,235,021UniSTS
REN89532  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,657,417 - 153,657,650UniSTSGRCh37
Build 36X153,310,611 - 153,310,844RGDNCBI36
CeleraX153,818,463 - 153,818,696RGD
Cytogenetic MapXq28UniSTS
HuRefX142,235,003 - 142,235,236UniSTS
REN89533  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,657,614 - 153,657,865UniSTSGRCh37
Build 36X153,310,808 - 153,311,059RGDNCBI36
CeleraX153,818,660 - 153,818,911RGD
Cytogenetic MapXq28UniSTS
HuRefX142,235,200 - 142,235,451UniSTS
REN89534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,657,838 - 153,658,074UniSTSGRCh37
Build 36X153,311,032 - 153,311,268RGDNCBI36
CeleraX153,818,884 - 153,819,120RGD
Cytogenetic MapXq28UniSTS
HuRefX142,235,424 - 142,235,660UniSTS
REN89535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,658,048 - 153,658,309UniSTSGRCh37
Build 36X153,311,242 - 153,311,503RGDNCBI36
CeleraX153,819,094 - 153,819,355RGD
Cytogenetic MapXq28UniSTS
HuRefX142,235,634 - 142,235,895UniSTS
REN89536  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,658,211 - 153,658,436UniSTSGRCh37
Build 36X153,311,405 - 153,311,630RGDNCBI36
CeleraX153,819,257 - 153,819,482RGD
Cytogenetic MapXq28UniSTS
HuRefX142,235,797 - 142,236,022UniSTS
REN89537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,658,786 - 153,659,011UniSTSGRCh37
Build 36X153,311,980 - 153,312,205RGDNCBI36
CeleraX153,819,832 - 153,820,057RGD
Cytogenetic MapXq28UniSTS
HuRefX142,236,372 - 142,236,597UniSTS
REN89538  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,659,007 - 153,659,252UniSTSGRCh37
Build 36X153,312,201 - 153,312,446RGDNCBI36
CeleraX153,820,053 - 153,820,298RGD
Cytogenetic MapXq28UniSTS
HuRefX142,236,593 - 142,236,838UniSTS
REN89539  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,659,225 - 153,659,470UniSTSGRCh37
Build 36X153,312,419 - 153,312,664RGDNCBI36
CeleraX153,820,271 - 153,820,516RGD
Cytogenetic MapXq28UniSTS
HuRefX142,236,811 - 142,237,056UniSTS
REN89540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,659,449 - 153,659,690UniSTSGRCh37
Build 36X153,312,643 - 153,312,884RGDNCBI36
CeleraX153,820,495 - 153,820,736RGD
Cytogenetic MapXq28UniSTS
HuRefX142,237,035 - 142,237,276UniSTS
REN89541  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,659,667 - 153,659,919UniSTSGRCh37
Build 36X153,312,861 - 153,313,113RGDNCBI36
CeleraX153,820,713 - 153,820,965RGD
Cytogenetic MapXq28UniSTS
HuRefX142,237,253 - 142,237,505UniSTS
REN89542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,659,905 - 153,660,167UniSTSGRCh37
Build 36X153,313,099 - 153,313,361RGDNCBI36
CeleraX153,820,951 - 153,821,213RGD
Cytogenetic MapXq28UniSTS
HuRefX142,237,491 - 142,237,753UniSTS
REN89543  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,660,144 - 153,660,370UniSTSGRCh37
Build 36X153,313,338 - 153,313,564RGDNCBI36
CeleraX153,821,190 - 153,821,416RGD
Cytogenetic MapXq28UniSTS
HuRefX142,237,730 - 142,237,956UniSTS
REN89544  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,660,333 - 153,660,601UniSTSGRCh37
Build 36X153,313,527 - 153,313,795RGDNCBI36
CeleraX153,821,379 - 153,821,647RGD
Cytogenetic MapXq28UniSTS
HuRefX142,237,919 - 142,238,187UniSTS
REN89545  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,660,577 - 153,660,814UniSTSGRCh37
Build 36X153,313,771 - 153,314,008RGDNCBI36
CeleraX153,821,623 - 153,821,860RGD
Cytogenetic MapXq28UniSTS
HuRefX142,238,163 - 142,238,400UniSTS
REN89546  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,660,789 - 153,661,035UniSTSGRCh37
Build 36X153,313,983 - 153,314,229RGDNCBI36
CeleraX153,821,835 - 153,822,081RGD
Cytogenetic MapXq28UniSTS
HuRefX142,238,375 - 142,238,621UniSTS
REN89547  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,661,014 - 153,661,282UniSTSGRCh37
Build 36X153,314,208 - 153,314,476RGDNCBI36
CeleraX153,822,060 - 153,822,328RGD
Cytogenetic MapXq28UniSTS
HuRefX142,238,600 - 142,238,868UniSTS
REN89548  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,661,263 - 153,661,507UniSTSGRCh37
Build 36X153,314,457 - 153,314,701RGDNCBI36
CeleraX153,822,309 - 153,822,553RGD
Cytogenetic MapXq28UniSTS
HuRefX142,238,849 - 142,239,093UniSTS
REN89549  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,661,486 - 153,661,732UniSTSGRCh37
Build 36X153,314,680 - 153,314,926RGDNCBI36
CeleraX153,822,532 - 153,822,778RGD
Cytogenetic MapXq28UniSTS
HuRefX142,239,072 - 142,239,318UniSTS
REN89550  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,661,706 - 153,661,974UniSTSGRCh37
Build 36X153,314,900 - 153,315,168RGDNCBI36
CeleraX153,822,752 - 153,823,020RGD
Cytogenetic MapXq28UniSTS
HuRefX142,239,292 - 142,239,560UniSTS
REN89551  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,661,951 - 153,662,220UniSTSGRCh37
Build 36X153,315,145 - 153,315,414RGDNCBI36
CeleraX153,822,997 - 153,823,266RGD
Cytogenetic MapXq28UniSTS
HuRefX142,239,537 - 142,239,806UniSTS
REN89552  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,662,209 - 153,662,458UniSTSGRCh37
Build 36X153,315,403 - 153,315,652RGDNCBI36
CeleraX153,823,255 - 153,823,504RGD
Cytogenetic MapXq28UniSTS
HuRefX142,239,795 - 142,240,044UniSTS
REN89553  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,662,445 - 153,662,706UniSTSGRCh37
Build 36X153,315,639 - 153,315,900RGDNCBI36
CeleraX153,823,491 - 153,823,752RGD
Cytogenetic MapXq28UniSTS
HuRefX142,240,031 - 142,240,292UniSTS
REN89554  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,662,683 - 153,662,954UniSTSGRCh37
Build 36X153,315,877 - 153,316,148RGDNCBI36
CeleraX153,823,729 - 153,824,000RGD
Cytogenetic MapXq28UniSTS
HuRefX142,240,269 - 142,240,540UniSTS
REN89555  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,662,932 - 153,663,163UniSTSGRCh37
Build 36X153,316,126 - 153,316,357RGDNCBI36
CeleraX153,823,978 - 153,824,209RGD
Cytogenetic MapXq28UniSTS
HuRefX142,240,518 - 142,240,749UniSTS
REN89556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,663,146 - 153,663,415UniSTSGRCh37
Build 36X153,316,340 - 153,316,609RGDNCBI36
CeleraX153,824,192 - 153,824,461RGD
Cytogenetic MapXq28UniSTS
HuRefX142,240,732 - 142,241,001UniSTS
REN89557  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,663,390 - 153,663,629UniSTSGRCh37
Build 36X153,316,584 - 153,316,823RGDNCBI36
CeleraX153,824,436 - 153,824,675RGD
Cytogenetic MapXq28UniSTS
HuRefX142,240,976 - 142,241,215UniSTS
REN89558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,663,608 - 153,663,851UniSTSGRCh37
Build 36X153,316,802 - 153,317,045RGDNCBI36
CeleraX153,824,654 - 153,824,897RGD
Cytogenetic MapXq28UniSTS
HuRefX142,241,194 - 142,241,437UniSTS
REN89559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,663,831 - 153,664,076UniSTSGRCh37
Build 36X153,317,025 - 153,317,270RGDNCBI36
CeleraX153,824,877 - 153,825,122RGD
Cytogenetic MapXq28UniSTS
HuRefX142,241,417 - 142,241,662UniSTS
REN89560  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,664,073 - 153,664,325UniSTSGRCh37
Build 36X153,317,267 - 153,317,519RGDNCBI36
CeleraX153,825,119 - 153,825,371RGD
Cytogenetic MapXq28UniSTS
HuRefX142,241,659 - 142,241,911UniSTS
REN89561  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,664,312 - 153,664,578UniSTSGRCh37
Build 36X153,317,506 - 153,317,772RGDNCBI36
CeleraX153,825,358 - 153,825,624RGD
Cytogenetic MapXq28UniSTS
HuRefX142,241,898 - 142,242,164UniSTS
REN89562  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,664,577 - 153,664,825UniSTSGRCh37
Build 36X153,317,771 - 153,318,019RGDNCBI36
CeleraX153,825,623 - 153,825,871RGD
Cytogenetic MapXq28UniSTS
REN89563  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,664,822 - 153,665,086UniSTSGRCh37
Build 36X153,318,016 - 153,318,280RGDNCBI36
CeleraX153,825,868 - 153,826,132RGD
Cytogenetic MapXq28UniSTS
REN89564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,665,069 - 153,665,335UniSTSGRCh37
Build 36X153,318,263 - 153,318,529RGDNCBI36
CeleraX153,826,115 - 153,826,380RGD
Cytogenetic MapXq28UniSTS
REN89570  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,666,280 - 153,666,526UniSTSGRCh37
Build 36X153,319,474 - 153,319,720RGDNCBI36
CeleraX153,827,325 - 153,827,571RGD
Cytogenetic MapXq28UniSTS
HuRefX142,243,930 - 142,244,176UniSTS
REN89571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,666,503 - 153,666,745UniSTSGRCh37
Build 36X153,319,697 - 153,319,939RGDNCBI36
CeleraX153,827,548 - 153,827,790RGD
Cytogenetic MapXq28UniSTS
HuRefX142,244,153 - 142,244,395UniSTS
REN89572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,666,724 - 153,666,978UniSTSGRCh37
Build 36X153,319,918 - 153,320,172RGDNCBI36
CeleraX153,827,769 - 153,828,023RGD
Cytogenetic MapXq28UniSTS
HuRefX142,244,374 - 142,244,628UniSTS
REN89574  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,667,185 - 153,667,409UniSTSGRCh37
Build 36X153,320,379 - 153,320,603RGDNCBI36
CeleraX153,828,230 - 153,828,454RGD
Cytogenetic MapXq28UniSTS
HuRefX142,244,835 - 142,245,059UniSTS
REN89575  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,667,396 - 153,667,642UniSTSGRCh37
Build 36X153,320,590 - 153,320,836RGDNCBI36
CeleraX153,828,441 - 153,828,687RGD
Cytogenetic MapXq28UniSTS
HuRefX142,245,046 - 142,245,292UniSTS
REN89576  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,667,610 - 153,667,869UniSTSGRCh37
Build 36X153,320,804 - 153,321,063RGDNCBI36
CeleraX153,828,655 - 153,828,914RGD
Cytogenetic MapXq28UniSTS
HuRefX142,245,260 - 142,245,519UniSTS
REN89577  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,667,846 - 153,668,104UniSTSGRCh37
Build 36X153,321,040 - 153,321,298RGDNCBI36
CeleraX153,828,891 - 153,829,148RGD
Cytogenetic MapXq28UniSTS
HuRefX142,245,496 - 142,245,753UniSTS
REN89578  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,668,084 - 153,668,311UniSTSGRCh37
Build 36X153,321,278 - 153,321,505RGDNCBI36
CeleraX153,829,128 - 153,829,355RGD
Cytogenetic MapXq28UniSTS
HuRefX142,245,733 - 142,245,960UniSTS
REN89579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,668,284 - 153,668,555UniSTSGRCh37
Build 36X153,321,478 - 153,321,749RGDNCBI36
CeleraX153,829,328 - 153,829,599RGD
Cytogenetic MapXq28UniSTS
HuRefX142,245,933 - 142,246,204UniSTS
REN89581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,668,754 - 153,668,991UniSTSGRCh37
Build 36X153,321,948 - 153,322,185RGDNCBI36
CeleraX153,829,798 - 153,830,035RGD
Cytogenetic MapXq28UniSTS
HuRefX142,246,403 - 142,246,640UniSTS
REN89582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,668,963 - 153,669,210UniSTSGRCh37
Build 36X153,322,157 - 153,322,404RGDNCBI36
CeleraX153,830,007 - 153,830,254RGD
Cytogenetic MapXq28UniSTS
HuRefX142,246,612 - 142,246,859UniSTS
REN89583  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,669,182 - 153,669,407UniSTSGRCh37
Build 36X153,322,376 - 153,322,601RGDNCBI36
CeleraX153,830,226 - 153,830,451RGD
Cytogenetic MapXq28UniSTS
HuRefX142,246,831 - 142,247,056UniSTS
REN89584  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,669,388 - 153,669,620UniSTSGRCh37
Build 36X153,322,582 - 153,322,814RGDNCBI36
CeleraX153,830,432 - 153,830,664RGD
Cytogenetic MapXq28UniSTS
HuRefX142,247,037 - 142,247,269UniSTS
REN89585  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,669,603 - 153,669,869UniSTSGRCh37
Build 36X153,322,797 - 153,323,063RGDNCBI36
CeleraX153,830,647 - 153,830,913RGD
Cytogenetic MapXq28UniSTS
HuRefX142,247,252 - 142,247,518UniSTS
REN89586  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,669,859 - 153,670,113UniSTSGRCh37
Build 36X153,323,053 - 153,323,307RGDNCBI36
CeleraX153,830,903 - 153,831,157RGD
Cytogenetic MapXq28UniSTS
HuRefX142,247,508 - 142,247,762UniSTS
REN89587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,670,092 - 153,670,347UniSTSGRCh37
Build 36X153,323,286 - 153,323,541RGDNCBI36
CeleraX153,831,136 - 153,831,391RGD
Cytogenetic MapXq28UniSTS
HuRefX142,247,741 - 142,247,996UniSTS
REN89588  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,670,295 - 153,670,550UniSTSGRCh37
Build 36X153,323,489 - 153,323,744RGDNCBI36
CeleraX153,831,339 - 153,831,594RGD
Cytogenetic MapXq28UniSTS
HuRefX142,247,944 - 142,248,199UniSTS
REN89589  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,670,547 - 153,670,780UniSTSGRCh37
Build 36X153,323,741 - 153,323,974RGDNCBI36
CeleraX153,831,591 - 153,831,824RGD
Cytogenetic MapXq28UniSTS
HuRefX142,248,196 - 142,248,429UniSTS
REN89591  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,670,998 - 153,671,246UniSTSGRCh37
Build 36X153,324,192 - 153,324,440RGDNCBI36
CeleraX153,832,042 - 153,832,290RGD
Cytogenetic MapXq28UniSTS
HuRefX142,248,647 - 142,248,895UniSTS
REN89592  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,671,223 - 153,671,464UniSTSGRCh37
Build 36X153,324,417 - 153,324,658RGDNCBI36
CeleraX153,832,267 - 153,832,508RGD
Cytogenetic MapXq28UniSTS
HuRefX142,248,872 - 142,249,113UniSTS
REN89593  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,671,441 - 153,671,668UniSTSGRCh37
Build 36X153,324,635 - 153,324,862RGDNCBI36
CeleraX153,832,485 - 153,832,712RGD
Cytogenetic MapXq28UniSTS
HuRefX142,249,090 - 142,249,317UniSTS
REN89594  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,671,633 - 153,671,907UniSTSGRCh37
Build 36X153,324,827 - 153,325,101RGDNCBI36
CeleraX153,832,677 - 153,832,951RGD
Cytogenetic MapXq28UniSTS
HuRefX142,249,282 - 142,249,556UniSTS
REN89595  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,671,905 - 153,672,173UniSTSGRCh37
Build 36X153,325,099 - 153,325,367RGDNCBI36
CeleraX153,832,949 - 153,833,217RGD
Cytogenetic MapXq28UniSTS
HuRefX142,249,554 - 142,249,822UniSTS
REN89596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,672,060 - 153,672,285UniSTSGRCh37
Build 36X153,325,254 - 153,325,479RGDNCBI36
CeleraX153,833,104 - 153,833,329RGD
Cytogenetic MapXq28UniSTS
HuRefX142,249,709 - 142,249,934UniSTS
REN89601  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,673,089 - 153,673,340UniSTSGRCh37
Build 36X153,326,283 - 153,326,534RGDNCBI36
CeleraX153,834,132 - 153,834,383RGD
Cytogenetic MapXq28UniSTS
HuRefX142,250,674 - 142,250,925UniSTS
REN89602  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,673,316 - 153,673,588UniSTSGRCh37
Build 36X153,326,510 - 153,326,782RGDNCBI36
CeleraX153,834,359 - 153,834,631RGD
Cytogenetic MapXq28UniSTS
HuRefX142,250,901 - 142,251,173UniSTS
REN89603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,673,563 - 153,673,798UniSTSGRCh37
Build 36X153,326,757 - 153,326,992RGDNCBI36
CeleraX153,834,606 - 153,834,841RGD
Cytogenetic MapXq28UniSTS
HuRefX142,251,148 - 142,251,383UniSTS
REN89604  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,673,774 - 153,674,022UniSTSGRCh37
Build 36X153,326,968 - 153,327,216RGDNCBI36
CeleraX153,834,817 - 153,835,065RGD
Cytogenetic MapXq28UniSTS
HuRefX142,251,359 - 142,251,607UniSTS
REN89606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,674,230 - 153,674,480UniSTSGRCh37
Build 36X153,327,424 - 153,327,674RGDNCBI36
CeleraX153,835,273 - 153,835,523RGD
Cytogenetic MapXq28UniSTS
HuRefX142,251,815 - 142,252,065UniSTS
REN89607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,674,457 - 153,674,699UniSTSGRCh37
Build 36X153,327,651 - 153,327,893RGDNCBI36
CeleraX153,835,500 - 153,835,742RGD
Cytogenetic MapXq28UniSTS
HuRefX142,252,042 - 142,252,284UniSTS
REN89608  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,674,684 - 153,674,914UniSTSGRCh37
Build 36X153,327,878 - 153,328,108RGDNCBI36
CeleraX153,835,727 - 153,835,957RGD
Cytogenetic MapXq28UniSTS
HuRefX142,252,269 - 142,252,499UniSTS
REN89609  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,674,881 - 153,675,133UniSTSGRCh37
Build 36X153,328,075 - 153,328,327RGDNCBI36
CeleraX153,835,924 - 153,836,176RGD
Cytogenetic MapXq28UniSTS
HuRefX142,252,466 - 142,252,718UniSTS
REN89610  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,675,080 - 153,675,327UniSTSGRCh37
Build 36X153,328,274 - 153,328,521RGDNCBI36
CeleraX153,836,123 - 153,836,370RGD
Cytogenetic MapXq28UniSTS
HuRefX142,252,665 - 142,252,912UniSTS
REN89611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,675,277 - 153,675,531UniSTSGRCh37
Build 36X153,328,471 - 153,328,725RGDNCBI36
CeleraX153,836,320 - 153,836,574RGD
Cytogenetic MapXq28UniSTS
HuRefX142,252,862 - 142,253,116UniSTS
REN89612  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,675,484 - 153,675,735UniSTSGRCh37
Build 36X153,328,678 - 153,328,929RGDNCBI36
CeleraX153,836,527 - 153,836,778RGD
Cytogenetic MapXq28UniSTS
HuRefX142,253,069 - 142,253,320UniSTS
REN89613  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,675,716 - 153,675,978UniSTSGRCh37
Build 36X153,328,910 - 153,329,172RGDNCBI36
CeleraX153,836,759 - 153,837,021RGD
Cytogenetic MapXq28UniSTS
HuRefX142,253,301 - 142,253,563UniSTS
REN89614  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,675,951 - 153,676,200UniSTSGRCh37
Build 36X153,329,145 - 153,329,394RGDNCBI36
CeleraX153,836,994 - 153,837,243RGD
Cytogenetic MapXq28UniSTS
HuRefX142,253,536 - 142,253,785UniSTS
REN89615  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,676,114 - 153,676,365UniSTSGRCh37
Build 36X153,329,308 - 153,329,559RGDNCBI36
CeleraX153,837,157 - 153,837,408RGD
Cytogenetic MapXq28UniSTS
HuRefX142,253,699 - 142,253,950UniSTS
REN89617  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,676,463 - 153,676,708UniSTSGRCh37
Build 36X153,329,657 - 153,329,902RGDNCBI36
CeleraX153,837,506 - 153,837,751RGD
Cytogenetic MapXq28UniSTS
HuRefX142,254,048 - 142,254,280UniSTS
REN89618  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,676,674 - 153,676,914UniSTSGRCh37
Build 36X153,329,868 - 153,330,108RGDNCBI36
CeleraX153,837,717 - 153,837,957RGD
Cytogenetic MapXq28UniSTS
HuRefX142,254,246 - 142,254,486UniSTS
REN89620  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,677,104 - 153,677,371UniSTSGRCh37
Build 36X153,330,298 - 153,330,565RGDNCBI36
CeleraX153,838,147 - 153,838,414RGD
Cytogenetic MapXq28UniSTS
HuRefX142,254,677 - 142,254,944UniSTS
REN89622  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,677,580 - 153,677,831UniSTSGRCh37
Build 36X153,330,774 - 153,331,025RGDNCBI36
CeleraX153,838,623 - 153,838,874RGD
Cytogenetic MapXq28UniSTS
HuRefX142,255,153 - 142,255,404UniSTS
REN89628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,678,953 - 153,679,205UniSTSGRCh37
Build 36X153,332,147 - 153,332,399RGDNCBI36
CeleraX153,839,996 - 153,840,248RGD
Cytogenetic MapXq28UniSTS
HuRefX142,256,560 - 142,256,812UniSTS
REN89629  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,679,198 - 153,679,454UniSTSGRCh37
Build 36X153,332,392 - 153,332,648RGDNCBI36
CeleraX153,840,241 - 153,840,497RGD
Cytogenetic MapXq28UniSTS
HuRefX142,256,805 - 142,257,061UniSTS
REN89630  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,679,436 - 153,679,698UniSTSGRCh37
Build 36X153,332,630 - 153,332,892RGDNCBI36
CeleraX153,840,479 - 153,840,741RGD
Cytogenetic MapXq28UniSTS
HuRefX142,257,043 - 142,257,305UniSTS
REN89631  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,679,677 - 153,679,919UniSTSGRCh37
Build 36X153,332,871 - 153,333,113RGDNCBI36
CeleraX153,840,720 - 153,840,962RGD
Cytogenetic MapXq28UniSTS
HuRefX142,257,284 - 142,257,526UniSTS
REN89632  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,680,174 - 153,680,416UniSTSGRCh37
Build 36X153,333,368 - 153,333,610RGDNCBI36
CeleraX153,841,217 - 153,841,459RGD
Cytogenetic MapXq28UniSTS
HuRefX142,257,781 - 142,258,023UniSTS
REN89633  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,680,396 - 153,680,621UniSTSGRCh37
Build 36X153,333,590 - 153,333,815RGDNCBI36
CeleraX153,841,439 - 153,841,664RGD
Cytogenetic MapXq28UniSTS
HuRefX142,258,003 - 142,258,228UniSTS
REN89634  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,680,930 - 153,681,154UniSTSGRCh37
Build 36X153,334,124 - 153,334,348RGDNCBI36
CeleraX153,841,973 - 153,842,197RGD
Cytogenetic MapXq28UniSTS
HuRefX142,258,537 - 142,258,761UniSTS
REN89635  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,681,139 - 153,681,388UniSTSGRCh37
Build 36X153,334,333 - 153,334,582RGDNCBI36
CeleraX153,842,182 - 153,842,431RGD
Cytogenetic MapXq28UniSTS
HuRefX142,258,746 - 142,258,995UniSTS
REN89636  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,681,370 - 153,681,613UniSTSGRCh37
Build 36X153,334,564 - 153,334,807RGDNCBI36
CeleraX153,842,413 - 153,842,656RGD
Cytogenetic MapXq28UniSTS
HuRefX142,258,977 - 142,259,220UniSTS
REN89637  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,681,551 - 153,681,803UniSTSGRCh37
Build 36X153,334,745 - 153,334,997RGDNCBI36
CeleraX153,842,594 - 153,842,846RGD
HuRefX142,259,158 - 142,259,410UniSTS
REN89638  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,681,780 - 153,682,040UniSTSGRCh37
Build 36X153,334,974 - 153,335,234RGDNCBI36
CeleraX153,842,823 - 153,843,083RGD
Cytogenetic MapXq28UniSTS
HuRefX142,259,387 - 142,259,647UniSTS
REN89639  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,681,826 - 153,682,067UniSTSGRCh37
Build 36X153,335,020 - 153,335,261RGDNCBI36
CeleraX153,842,869 - 153,843,110RGD
Cytogenetic MapXq28UniSTS
HuRefX142,259,433 - 142,259,674UniSTS
REN89640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,682,513 - 153,682,747UniSTSGRCh37
Build 36X153,335,707 - 153,335,941RGDNCBI36
CeleraX153,843,557 - 153,843,791RGD
Cytogenetic MapXq28UniSTS
HuRefX142,260,121 - 142,260,355UniSTS
REN89641  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,682,706 - 153,682,955UniSTSGRCh37
Build 36X153,335,900 - 153,336,149RGDNCBI36
CeleraX153,843,750 - 153,843,999RGD
Cytogenetic MapXq28UniSTS
HuRefX142,260,314 - 142,260,563UniSTS
REN89642  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,682,934 - 153,683,194UniSTSGRCh37
Build 36X153,336,128 - 153,336,388RGDNCBI36
CeleraX153,843,978 - 153,844,238RGD
Cytogenetic MapXq28UniSTS
HuRefX142,260,542 - 142,260,802UniSTS
REN89643  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,683,064 - 153,683,302UniSTSGRCh37
Build 36X153,336,258 - 153,336,496RGDNCBI36
CeleraX153,844,108 - 153,844,346RGD
Cytogenetic MapXq28UniSTS
HuRefX142,260,672 - 142,260,910UniSTS
REN89649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,685,458 - 153,685,723UniSTSGRCh37
Build 36X153,338,652 - 153,338,917RGDNCBI36
CeleraX153,846,509 - 153,846,774RGD
Cytogenetic MapXq28UniSTS
HuRefX142,262,619 - 142,262,884UniSTS
REN89650  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,685,672 - 153,685,899UniSTSGRCh37
Build 36X153,338,866 - 153,339,093RGDNCBI36
CeleraX153,846,723 - 153,846,950RGD
Cytogenetic MapXq28UniSTS
HuRefX142,262,833 - 142,263,060UniSTS
REN89651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,686,764 - 153,687,012UniSTSGRCh37
Build 36X153,339,958 - 153,340,206RGDNCBI36
CeleraX153,847,815 - 153,848,063RGD
Cytogenetic MapXq28UniSTS
HuRefX142,263,927 - 142,264,175UniSTS
REN89652  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,687,000 - 153,687,272UniSTSGRCh37
Build 36X153,340,194 - 153,340,466RGDNCBI36
CeleraX153,848,051 - 153,848,323RGD
Cytogenetic MapXq28UniSTS
HuRefX142,264,163 - 142,264,435UniSTS
REN89653  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,687,263 - 153,687,492UniSTSGRCh37
Build 36X153,340,457 - 153,340,686RGDNCBI36
CeleraX153,848,314 - 153,848,543RGD
Cytogenetic MapXq28UniSTS
HuRefX142,264,426 - 142,264,655UniSTS
REN89654  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,687,471 - 153,687,738UniSTSGRCh37
Build 36X153,340,665 - 153,340,932RGDNCBI36
CeleraX153,848,522 - 153,848,789RGD
Cytogenetic MapXq28UniSTS
HuRefX142,264,634 - 142,264,901UniSTS
REN89655  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,687,668 - 153,687,918UniSTSGRCh37
Build 36X153,340,862 - 153,341,112RGDNCBI36
CeleraX153,848,719 - 153,848,969RGD
Cytogenetic MapXq28UniSTS
HuRefX142,264,831 - 142,265,081UniSTS
REN89656  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,687,897 - 153,688,132UniSTSGRCh37
Build 36X153,341,091 - 153,341,326RGDNCBI36
CeleraX153,848,948 - 153,849,183RGD
Cytogenetic MapXq28UniSTS
HuRefX142,265,060 - 142,265,295UniSTS
REN89657  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,688,103 - 153,688,334UniSTSGRCh37
Build 36X153,341,297 - 153,341,528RGDNCBI36
CeleraX153,849,154 - 153,849,385RGD
Cytogenetic MapXq28UniSTS
HuRefX142,265,266 - 142,265,497UniSTS
REN89658  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,688,313 - 153,688,561UniSTSGRCh37
Build 36X153,341,507 - 153,341,755RGDNCBI36
CeleraX153,849,364 - 153,849,612RGD
Cytogenetic MapXq28UniSTS
HuRefX142,265,476 - 142,265,724UniSTS
REN89659  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,688,528 - 153,688,757UniSTSGRCh37
Build 36X153,341,722 - 153,341,951RGDNCBI36
CeleraX153,849,579 - 153,849,808RGD
Cytogenetic MapXq28UniSTS
HuRefX142,265,691 - 142,265,920UniSTS
REN89660  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,688,738 - 153,688,990UniSTSGRCh37
Build 36X153,341,932 - 153,342,184RGDNCBI36
CeleraX153,849,789 - 153,850,041RGD
Cytogenetic MapXq28UniSTS
HuRefX142,265,901 - 142,266,153UniSTS
REN89661  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,688,968 - 153,689,204UniSTSGRCh37
Build 36X153,342,162 - 153,342,398RGDNCBI36
CeleraX153,850,019 - 153,850,255RGD
Cytogenetic MapXq28UniSTS
HuRefX142,266,131 - 142,266,367UniSTS
REN89662  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,689,198 - 153,689,462UniSTSGRCh37
Build 36X153,342,392 - 153,342,656RGDNCBI36
CeleraX153,850,249 - 153,850,513RGD
Cytogenetic MapXq28UniSTS
HuRefX142,266,361 - 142,266,625UniSTS
REN89663  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,689,436 - 153,689,683UniSTSGRCh37
Build 36X153,342,630 - 153,342,877RGDNCBI36
CeleraX153,850,487 - 153,850,734RGD
Cytogenetic MapXq28UniSTS
HuRefX142,266,599 - 142,266,846UniSTS
REN89664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,689,643 - 153,689,882UniSTSGRCh37
Build 36X153,342,837 - 153,343,076RGDNCBI36
CeleraX153,850,694 - 153,850,933RGD
Cytogenetic MapXq28UniSTS
HuRefX142,266,806 - 142,267,045UniSTS
REN89665  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,689,860 - 153,690,126UniSTSGRCh37
Build 36X153,343,054 - 153,343,320RGDNCBI36
CeleraX153,850,911 - 153,851,177RGD
Cytogenetic MapXq28UniSTS
HuRefX142,267,023 - 142,267,289UniSTS
REN89666  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,690,100 - 153,690,353UniSTSGRCh37
Build 36X153,343,294 - 153,343,547RGDNCBI36
CeleraX153,851,151 - 153,851,404RGD
Cytogenetic MapXq28UniSTS
HuRefX142,267,263 - 142,267,516UniSTS
REN89667  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,690,304 - 153,690,532UniSTSGRCh37
Build 36X153,343,498 - 153,343,726RGDNCBI36
CeleraX153,851,355 - 153,851,583RGD
Cytogenetic MapXq28UniSTS
HuRefX142,267,467 - 142,267,695UniSTS
REN89668  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,690,498 - 153,690,760UniSTSGRCh37
Build 36X153,343,692 - 153,343,954RGDNCBI36
CeleraX153,851,549 - 153,851,811RGD
Cytogenetic MapXq28UniSTS
HuRefX142,267,661 - 142,267,923UniSTS
REN89670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,690,977 - 153,691,202UniSTSGRCh37
Build 36X153,344,171 - 153,344,396RGDNCBI36
CeleraX153,852,028 - 153,852,253RGD
Cytogenetic MapXq28UniSTS
HuRefX142,268,140 - 142,268,365UniSTS
REN89671  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,691,168 - 153,691,413UniSTSGRCh37
Build 36X153,344,362 - 153,344,607RGDNCBI36
CeleraX153,852,219 - 153,852,464RGD
Cytogenetic MapXq28UniSTS
HuRefX142,268,331 - 142,268,576UniSTS
REN89672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,691,410 - 153,691,663UniSTSGRCh37
Build 36X153,344,604 - 153,344,857RGDNCBI36
CeleraX153,852,461 - 153,852,714RGD
Cytogenetic MapXq28UniSTS
HuRefX142,268,573 - 142,268,826UniSTS
REN89673  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,691,660 - 153,691,929UniSTSGRCh37
Build 36X153,344,854 - 153,345,123RGDNCBI36
CeleraX153,852,711 - 153,852,980RGD
Cytogenetic MapXq28UniSTS
HuRefX142,268,823 - 142,269,092UniSTS
REN89674  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,691,909 - 153,692,158UniSTSGRCh37
Build 36X153,345,103 - 153,345,352RGDNCBI36
CeleraX153,852,960 - 153,853,209RGD
Cytogenetic MapXq28UniSTS
HuRefX142,269,072 - 142,269,322UniSTS
REN89675  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,692,129 - 153,692,365UniSTSGRCh37
Build 36X153,345,323 - 153,345,559RGDNCBI36
CeleraX153,853,180 - 153,853,416RGD
Cytogenetic MapXq28UniSTS
HuRefX142,269,293 - 142,269,529UniSTS
REN89676  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,692,352 - 153,692,618UniSTSGRCh37
Build 36X153,345,546 - 153,345,812RGDNCBI36
CeleraX153,853,403 - 153,853,669RGD
Cytogenetic MapXq28UniSTS
HuRefX142,269,516 - 142,269,782UniSTS
REN89677  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,692,591 - 153,692,835UniSTSGRCh37
Build 36X153,345,785 - 153,346,029RGDNCBI36
CeleraX153,853,642 - 153,853,886RGD
Cytogenetic MapXq28UniSTS
HuRefX142,269,755 - 142,269,999UniSTS
stSG604043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,658,815 - 153,659,934UniSTSGRCh37
Build 36X153,312,009 - 153,313,128RGDNCBI36
CeleraX153,819,861 - 153,820,980RGD
Cytogenetic MapXq28UniSTS
HuRefX142,236,401 - 142,237,520UniSTS
stSG604044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,659,982 - 153,660,984UniSTSGRCh37
Build 36X153,313,176 - 153,314,178RGDNCBI36
CeleraX153,821,028 - 153,822,030RGD
HuRefX142,237,568 - 142,238,570UniSTS
stSG604045  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,660,980 - 153,662,133UniSTSGRCh37
Build 36X153,314,174 - 153,315,327RGDNCBI36
CeleraX153,822,026 - 153,823,179RGD
HuRefX142,238,566 - 142,239,719UniSTS
stSG604046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,662,114 - 153,663,498UniSTSGRCh37
Build 36X153,315,308 - 153,316,692RGDNCBI36
CeleraX153,823,160 - 153,824,544RGD
HuRefX142,239,700 - 142,241,084UniSTS
stSG604053  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,670,971 - 153,671,974UniSTSGRCh37
Build 36X153,324,165 - 153,325,168RGDNCBI36
CeleraX153,832,015 - 153,833,018RGD
HuRefX142,248,620 - 142,249,623UniSTS
stSG604055  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,673,404 - 153,673,682UniSTSGRCh37
Build 36X153,326,598 - 153,326,876RGDNCBI36
CeleraX153,834,447 - 153,834,725RGD
HuRefX142,250,989 - 142,251,267UniSTS
stSG604056  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,673,716 - 153,674,909UniSTSGRCh37
Build 36X153,326,910 - 153,328,103RGDNCBI36
CeleraX153,834,759 - 153,835,952RGD
HuRefX142,251,301 - 142,252,494UniSTS
stSG604057  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,674,890 - 153,676,345UniSTSGRCh37
Build 36X153,328,084 - 153,329,539RGDNCBI36
CeleraX153,835,933 - 153,837,388RGD
HuRefX142,252,475 - 142,253,930UniSTS
stSG604058  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,676,345 - 153,677,523UniSTSGRCh37
Build 36X153,329,539 - 153,330,717RGDNCBI36
CeleraX153,837,388 - 153,838,566RGD
HuRefX142,253,930 - 142,255,096UniSTS
stSG604062  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,681,102 - 153,682,565UniSTSGRCh37
Build 36X153,334,296 - 153,335,759RGDNCBI36
CeleraX153,842,145 - 153,843,609RGD
HuRefX142,258,709 - 142,260,173UniSTS
stSG604067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,688,798 - 153,690,155UniSTSGRCh37
Build 36X153,341,992 - 153,343,349RGDNCBI36
CeleraX153,849,849 - 153,851,206RGD
HuRefX142,265,961 - 142,267,318UniSTS
stSG604068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,690,136 - 153,691,208UniSTSGRCh37
Build 36X153,343,330 - 153,344,402RGDNCBI36
CeleraX153,851,187 - 153,852,259RGD
HuRefX142,267,299 - 142,268,371UniSTS
GDI1__6799  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,671,175 - 153,671,983UniSTSGRCh37
Build 36X153,324,369 - 153,325,177RGDNCBI36
CeleraX153,832,219 - 153,833,027RGD
HuRefX142,248,824 - 142,249,632UniSTS
DXS7072  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,656,335 - 153,656,494UniSTSGRCh37
Build 36X153,309,529 - 153,309,688RGDNCBI36
CeleraX153,817,381 - 153,817,540RGD
Cytogenetic MapXq28UniSTS
RH77733  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,671,663 - 153,671,806UniSTSGRCh37
Build 36X153,324,857 - 153,325,000RGDNCBI36
CeleraX153,832,707 - 153,832,850RGD
Cytogenetic MapXq28UniSTS
HuRefX142,249,312 - 142,249,455UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS
RH68908  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,664,432 - 153,664,612UniSTSGRCh37
Build 36X153,317,626 - 153,317,806RGDNCBI36
CeleraX153,825,478 - 153,825,658RGD
Cytogenetic MapXq28UniSTS
HuRefX142,242,018 - 142,242,198UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS
GDI1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,670,900 - 153,670,995UniSTSGRCh37
Build 36X153,324,094 - 153,324,189RGDNCBI36
CeleraX153,831,944 - 153,832,039RGD
HuRefX142,248,549 - 142,248,644UniSTS
ATP6AP1__4395  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,664,212 - 153,664,850UniSTSGRCh37
Build 36X153,317,406 - 153,318,044RGDNCBI36
CeleraX153,825,258 - 153,825,896RGD
DXS9771  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS
HuRefX142,256,440 - 142,256,585UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR1226hsa-miR-1226-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:6341
Count of miRNA genes:1452
Interacting mature miRNAs:1948
Transcripts:ENST00000369762, ENST00000422890, ENST00000429585, ENST00000439372, ENST00000446552, ENST00000449556, ENST00000455205, ENST00000484908, ENST00000491569
Prediction methods:Microtar, Miranda, Pita, Pita,Targetscan, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2439 2923 1700 599 1944 440 4350 2130 3657 418 1459 1613 175 1 1204 2781 6 2
Low 68 26 25 7 25 7 67 77 1 7
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC244090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX461330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX936347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX936385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D16469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA921677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB569252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X87195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000369762   ⟹   ENSP00000358777
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,428,677 - 154,436,516 (+)Ensembl
RefSeq Acc Id: ENST00000422890   ⟹   ENSP00000398511
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,428,645 - 154,435,379 (+)Ensembl
RefSeq Acc Id: ENST00000429585   ⟹   ENSP00000408470
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,428,741 - 154,435,379 (+)Ensembl
RefSeq Acc Id: ENST00000439372   ⟹   ENSP00000408317
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,428,687 - 154,431,600 (+)Ensembl
RefSeq Acc Id: ENST00000446552   ⟹   ENSP00000411209
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,428,689 - 154,431,879 (+)Ensembl
RefSeq Acc Id: ENST00000449556   ⟹   ENSP00000392375
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,428,663 - 154,434,219 (+)Ensembl
RefSeq Acc Id: ENST00000455205   ⟹   ENSP00000396643
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,428,698 - 154,436,515 (+)Ensembl
RefSeq Acc Id: ENST00000484908
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,431,722 - 154,434,269 (+)Ensembl
RefSeq Acc Id: ENST00000491569
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,428,845 - 154,436,515 (+)Ensembl
RefSeq Acc Id: ENST00000619046   ⟹   ENSP00000482243
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,430,584 - 154,436,515 (+)Ensembl
RefSeq Acc Id: ENST00000677332   ⟹   ENSP00000502914
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,429,082 - 154,436,508 (+)Ensembl
RefSeq Acc Id: ENST00000677342   ⟹   ENSP00000503173
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,428,633 - 154,436,516 (+)Ensembl
RefSeq Acc Id: ENST00000678317
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,429,047 - 154,436,508 (+)Ensembl
RefSeq Acc Id: ENST00000679241   ⟹   ENSP00000503588
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,428,677 - 154,436,508 (+)Ensembl
RefSeq Acc Id: NM_001183   ⟹   NP_001174
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,428,677 - 154,436,516 (+)NCBI
GRCh37X153,656,978 - 153,664,862 (+)ENTREZGENE
Build 36X153,310,172 - 153,318,056 (+)NCBI Archive
HuRefX142,234,564 - 142,269,596 (+)ENTREZGENE
CHM1_1X153,568,616 - 153,576,501 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531179   ⟹   XP_011529481
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,428,669 - 154,436,516 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001174   ⟸   NM_001183
- Peptide Label: precursor
- UniProtKB: Q15904 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529481   ⟸   XM_011531179
- Peptide Label: isoform X1
- UniProtKB: Q15904 (UniProtKB/Swiss-Prot),   A0A0C4DGX8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000408317   ⟸   ENST00000439372
RefSeq Acc Id: ENSP00000408470   ⟸   ENST00000429585
RefSeq Acc Id: ENSP00000396643   ⟸   ENST00000455205
RefSeq Acc Id: ENSP00000411209   ⟸   ENST00000446552
RefSeq Acc Id: ENSP00000358777   ⟸   ENST00000369762
RefSeq Acc Id: ENSP00000482243   ⟸   ENST00000619046
RefSeq Acc Id: ENSP00000392375   ⟸   ENST00000449556
RefSeq Acc Id: ENSP00000398511   ⟸   ENST00000422890
RefSeq Acc Id: ENSP00000502914   ⟸   ENST00000677332
RefSeq Acc Id: ENSP00000503173   ⟸   ENST00000677342
RefSeq Acc Id: ENSP00000503588   ⟸   ENST00000679241

Promoters
RGD ID:6808727
Promoter ID:HG_KWN:68651
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000360656,   ENST00000369759,   NM_001183,   OTTHUMT00000081641,   OTTHUMT00000144415,   OTTHUMT00000316574,   OTTHUMT00000316575,   OTTHUMT00000316577,   UC004FLD.2,   UC004FLE.2,   UC004FLG.1,   UC004FLH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,310,096 - 153,310,997 (+)MPROMDB
RGD ID:6853200
Promoter ID:EP74421
Type:initiation region
Name:HS_ATP6P1
Description:ATPase, H+ transporting, lysosomal interacting protein 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,310,242 - 153,310,302EPD
RGD ID:6808521
Promoter ID:HG_KWN:68652
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000316576
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,312,251 - 153,312,751 (+)MPROMDB
RGD ID:13628620
Promoter ID:EPDNEW_H29548
Type:initiation region
Name:ATP6AP1_1
Description:ATPase H+ transporting accessory protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,428,677 - 154,428,737EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 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 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 Xq28(chrX:154394598-154554969)x1 copy number loss See cases [RCV000051760] ChrX:154394598..154554969 [GRCh38]
ChrX:153622940..153783184 [GRCh37]
ChrX:153276134..153436378 [NCBI36]
ChrX:Xq28
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: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: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:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:154336596-154642063)x2 copy number gain See cases [RCV000054320] ChrX:154336596..154642063 [GRCh38]
ChrX:153564946..153870337 [GRCh37]
ChrX:153218140..153523531 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:154348522-154594454)x2 copy number gain See cases [RCV000054321] ChrX:154348522..154594454 [GRCh38]
ChrX:153576890..153822717 [GRCh37]
ChrX:153230084..153475911 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:154394598-154626056)x2 copy number gain See cases [RCV000054322] ChrX:154394598..154626056 [GRCh38]
ChrX:153622940..153854307 [GRCh37]
ChrX:153276134..153507501 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 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 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 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 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 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: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 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 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 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 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 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 Xq21.31-28(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 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 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:154348522-154770053)x2 copy number gain See cases [RCV000140492] ChrX:154348522..154770053 [GRCh38]
ChrX:153576890..153998328 [GRCh37]
ChrX:153230084..153651522 [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: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 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 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 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:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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: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
NM_001183.6(ATP6AP1):c.1284G>A (p.Met428Ile) single nucleotide variant Immunodeficiency 47 [RCV000225137] ChrX:154435762 [GRCh38]
ChrX:153664108 [GRCh37]
ChrX:Xq28
pathogenic
NM_001183.6(ATP6AP1):c.938A>G (p.Tyr313Cys) single nucleotide variant Immunodeficiency 47 [RCV000225189] ChrX:154435153 [GRCh38]
ChrX:153663499 [GRCh37]
ChrX:Xq28
pathogenic
NM_001183.6(ATP6AP1):c.431T>C (p.Leu144Pro) single nucleotide variant Immunodeficiency 47 [RCV000225250] ChrX:154432333 [GRCh38]
ChrX:153660679 [GRCh37]
ChrX:Xq28
pathogenic
NM_001183.6(ATP6AP1):c.1036G>A (p.Glu346Lys) single nucleotide variant Immunodeficiency 47 [RCV000225332] ChrX:154435338 [GRCh38]
ChrX:153663684 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153627408-154089925)x2 copy number gain See cases [RCV000240046] ChrX:153627408..154089925 [GRCh37]
ChrX:Xq28
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:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001183.6(ATP6AP1):c.361G>C (p.Glu121Gln) single nucleotide variant not provided [RCV000585197] ChrX:154431902 [GRCh38]
ChrX:153660248 [GRCh37]
ChrX:Xq28
conflicting interpretations of pathogenicity|uncertain significance
NM_001183.6(ATP6AP1):c.542T>G (p.Leu181Arg) single nucleotide variant Immunodeficiency 47 [RCV000590996] ChrX:154432444 [GRCh38]
ChrX:153660790 [GRCh37]
ChrX:Xq28
pathogenic
NM_001183.6(ATP6AP1):c.1113C>T (p.Cys371=) single nucleotide variant not provided [RCV000598739] ChrX:154435415 [GRCh38]
ChrX:153663761 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001183.6(ATP6AP1):c.43C>T (p.Arg15Trp) single nucleotide variant not provided [RCV000730697] ChrX:154428735 [GRCh38]
ChrX:153657081 [GRCh37]
ChrX:Xq28
conflicting interpretations of pathogenicity|uncertain significance
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 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:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28
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 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:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
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 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
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: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
NM_001183.6(ATP6AP1):c.831G>T (p.Ala277=) single nucleotide variant not specified [RCV000417694] ChrX:154434354 [GRCh38]
ChrX:153662700 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [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:70297-155246585)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 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153097608-153681801)x2 copy number gain See cases [RCV000510362] ChrX:153097608..153681801 [GRCh37]
ChrX:Xq28
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 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
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 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:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [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 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq21.1-28(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 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-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
NC_000023.10:g.(?_153295726)_(153786885_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000645139] ChrX:153295726..153786885 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153138672-153665655) copy number gain Microcytic anemia [RCV000626549] ChrX:153138672..153665655 [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
NM_001183.6(ATP6AP1):c.1213T>C (p.Phe405Leu) single nucleotide variant not provided [RCV000585372] ChrX:154435691 [GRCh38]
ChrX:153664037 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153576750-154563104)x1 copy number loss See cases [RCV000663390] ChrX:153576750..154563104 [GRCh37]
ChrX:Xq28
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 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq28(chrX:153621005-153868484)x4 copy number gain not provided [RCV000684414] ChrX:153621005..153868484 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xq28(chrX:153581543-153858492)x2 copy number gain not provided [RCV000684413] ChrX:153581543..153858492 [GRCh37]
ChrX:Xq28
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 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:153560741-153761134)x2 copy number gain not provided [RCV000684744] ChrX:153560741..153761134 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153560741-153858492)x2,3 copy number gain not provided [RCV000684745] ChrX:153560741..153858492 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
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 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
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:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
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
NM_001183.6(ATP6AP1):c.1162A>C (p.Thr388Pro) single nucleotide variant not provided [RCV000961854] ChrX:154435464 [GRCh38]
ChrX:153663810 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_001183.6(ATP6AP1):c.932T>A (p.Leu311Gln) single nucleotide variant ATP6AP1-related disorders [RCV000991196]|Immunodeficiency 47 [RCV001171365] ChrX:154435147 [GRCh38]
ChrX:153663493 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NM_001183.6(ATP6AP1):c.405C>T (p.Ala135=) single nucleotide variant not provided [RCV000915268] ChrX:154432307 [GRCh38]
ChrX:153660653 [GRCh37]
ChrX:Xq28
likely benign
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 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
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
NM_001183.6(ATP6AP1):c.1011G>A (p.Arg337=) single nucleotide variant not provided [RCV000923224] ChrX:154435313 [GRCh38]
ChrX:153663659 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153609873-153815499)x3 copy number gain not provided [RCV000847592] ChrX:153609873..153815499 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153566612-153731506)x2 copy number gain not provided [RCV000847027] ChrX:153566612..153731506 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
NM_001183.6(ATP6AP1):c.289-135= single nucleotide variant not provided [RCV000843501] ChrX:154431695 [GRCh38]
ChrX:153660041 [GRCh37]
ChrX:Xq28
benign
NM_001183.6(ATP6AP1):c.1157C>T (p.Ala386Val) single nucleotide variant not provided [RCV000976070] ChrX:154435459 [GRCh38]
ChrX:153663805 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:153556428-153868487)x2 copy number gain not provided [RCV000845970] ChrX:153556428..153868487 [GRCh37]
ChrX:Xq28
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 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
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
NM_001183.6(ATP6AP1):c.649T>A (p.Tyr217Asn) single nucleotide variant Immunodeficiency 47 [RCV001250487] ChrX:154433685 [GRCh38]
ChrX:153662031 [GRCh37]
ChrX:Xq28
pathogenic
NM_001183.6(ATP6AP1):c.221T>C (p.Leu74Pro) single nucleotide variant Immunodeficiency 47 [RCV001171364] ChrX:154429107 [GRCh38]
ChrX:153657453 [GRCh37]
ChrX:Xq28
pathogenic
NM_001183.6(ATP6AP1):c.45G>A (p.Arg15=) single nucleotide variant not provided [RCV000950036] ChrX:154428737 [GRCh38]
ChrX:153657083 [GRCh37]
ChrX:Xq28
benign
NM_001183.6(ATP6AP1):c.927C>T (p.Leu309=) single nucleotide variant not provided [RCV000915293] ChrX:154435142 [GRCh38]
ChrX:153663488 [GRCh37]
ChrX:Xq28
benign
NM_001183.6(ATP6AP1):c.499C>T (p.Leu167=) single nucleotide variant not provided [RCV000959745] ChrX:154432401 [GRCh38]
ChrX:153660747 [GRCh37]
ChrX:Xq28
likely benign
NM_001183.6(ATP6AP1):c.1140G>A (p.Lys380=) single nucleotide variant not provided [RCV000933454] ChrX:154435442 [GRCh38]
ChrX:153663788 [GRCh37]
ChrX:Xq28
likely benign
NM_001183.6(ATP6AP1):c.539G>A (p.Arg180His) single nucleotide variant not provided [RCV000891321] ChrX:154432441 [GRCh38]
ChrX:153660787 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_001183.6(ATP6AP1):c.674G>A (p.Arg225His) single nucleotide variant Immunodeficiency 47 [RCV001195771] ChrX:154433710 [GRCh38]
ChrX:153662056 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001183.6(ATP6AP1):c.1219G>A (p.Val407Ile) single nucleotide variant not provided [RCV001322194] ChrX:154435697 [GRCh38]
ChrX:153664043 [GRCh37]
ChrX:Xq28
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:868 AgrOrtholog
COSMIC ATP6AP1 COSMIC
Ensembl Genes ENSG00000071553 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000358777 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000392375 UniProtKB/TrEMBL
  ENSP00000396643 UniProtKB/TrEMBL
  ENSP00000398511 UniProtKB/TrEMBL
  ENSP00000408317 UniProtKB/TrEMBL
  ENSP00000408470 UniProtKB/TrEMBL
  ENSP00000411209 UniProtKB/TrEMBL
  ENSP00000482243 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000502914 UniProtKB/TrEMBL
  ENSP00000503173 UniProtKB/TrEMBL
  ENSP00000503588 UniProtKB/TrEMBL
Ensembl Transcript ENST00000369762 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000422890 UniProtKB/TrEMBL
  ENST00000429585 UniProtKB/TrEMBL
  ENST00000439372 UniProtKB/TrEMBL
  ENST00000446552 UniProtKB/TrEMBL
  ENST00000449556 UniProtKB/TrEMBL
  ENST00000455205 UniProtKB/TrEMBL
  ENST00000619046 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000677332 UniProtKB/TrEMBL
  ENST00000677342 UniProtKB/TrEMBL
  ENST00000679241 UniProtKB/TrEMBL
GTEx ENSG00000071553 GTEx
HGNC ID HGNC:868 ENTREZGENE
Human Proteome Map ATP6AP1 Human Proteome Map
InterPro ATPase_V1-cplx_s1su UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:537 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 537 ENTREZGENE
OMIM 300197 OMIM
  300972 OMIM
PANTHER PTHR12471 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ATP-synt_S1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25145 PharmGKB
UniProt A0A0C4DGX8 ENTREZGENE, UniProtKB/TrEMBL
  A0A384MQW4_HUMAN UniProtKB/TrEMBL
  A0A7I2V2G3_HUMAN UniProtKB/TrEMBL
  A0A7I2V3T8_HUMAN UniProtKB/TrEMBL
  A0A7I2YQA5_HUMAN UniProtKB/TrEMBL
  A6NLC6_HUMAN UniProtKB/TrEMBL
  A6QRJ1_HUMAN UniProtKB/TrEMBL
  F2Z3L8_HUMAN UniProtKB/TrEMBL
  H7C0T7_HUMAN UniProtKB/TrEMBL
  H7C2Y8_HUMAN UniProtKB/TrEMBL
  Q15904 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6ZKI4 UniProtKB/Swiss-Prot
  B0S8I9 UniProtKB/TrEMBL
  Q8NBT4 UniProtKB/Swiss-Prot
  Q9H0C7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 ATP6AP1  ATPase H+ transporting accessory protein 1    ATPase, H+ transporting, lysosomal accessory protein 1  Symbol and/or name change 5135510 APPROVED
2011-08-23 ATP6AP1  ATPase, H+ transporting, lysosomal accessory protein 1  ATP6AP1  ATPase, H+ transporting, lysosomal accessory protein 1  Symbol and/or name change 5135510 APPROVED