PLXNA3 (plexin A3) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: PLXNA3 (plexin A3) Homo sapiens
Analyze
Symbol: PLXNA3
Name: plexin A3
RGD ID: 1349180
HGNC Page HGNC
Description: Predicted to have semaphorin receptor activity. Predicted to be involved in several processes, including generation of neurons; regulation of GTPase activity; and regulation of cell shape. Predicted to localize to integral component of plasma membrane and semaphorin receptor complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 6.3; HSSEXGENE; plexin-4; plexin-A3; PLXN3; PLXN4; semaphorin receptor SEX; SEX; Sex chromosome X transmembrane protein of HGF receptor family 3; XAP-6
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 EnsemblX154,458,281 - 154,477,779 (+)EnsemblGRCh38hg38GRCh38
GRCh38X154,458,281 - 154,477,779 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,686,621 - 153,706,118 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,339,817 - 153,355,179 (+)NCBINCBI36hg18NCBI36
Build 34X153,250,326 - 153,265,688NCBI
CeleraX153,847,674 - 153,863,036 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,263,786 - 142,279,038 (+)NCBIHuRef
CHM1_1X153,598,265 - 153,613,630 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Microtia  (IAGP)
Schizophrenia  (IAGP)
Short stature  (IAGP)
References

Additional References at PubMed
PMID:8248200   PMID:8281148   PMID:8570614   PMID:8733135   PMID:8806646   PMID:10520995   PMID:10737800   PMID:11604131   PMID:15146197   PMID:15203218   PMID:19480842   PMID:19909241  
PMID:20138877   PMID:21873635   PMID:21900206   PMID:21925246   PMID:22199357   PMID:25518740   PMID:26186194   PMID:26496610   PMID:28514442   PMID:28536997   PMID:30745168   PMID:31391242  


Genomics

Comparative Map Data
PLXNA3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX154,458,281 - 154,477,779 (+)EnsemblGRCh38hg38GRCh38
GRCh38X154,458,281 - 154,477,779 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,686,621 - 153,706,118 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,339,817 - 153,355,179 (+)NCBINCBI36hg18NCBI36
Build 34X153,250,326 - 153,265,688NCBI
CeleraX153,847,674 - 153,863,036 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,263,786 - 142,279,038 (+)NCBIHuRef
CHM1_1X153,598,265 - 153,613,630 (+)NCBICHM1_1
Plxna3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X73,372,644 - 73,388,295 (+)NCBIGRCm39mm39
GRCm39 EnsemblX73,372,672 - 73,388,295 (+)Ensembl
GRCm38X74,328,290 - 74,344,689 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX74,329,066 - 74,344,689 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X71,574,405 - 71,590,028 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X70,581,819 - 70,596,483 (+)NCBImm8
CeleraX65,582,855 - 65,598,478 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX38.0NCBI
Plxna3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X152,115,699 - 152,131,608 (+)NCBI
Rnor_6.0 EnsemblX156,363,405 - 156,379,189 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X156,363,400 - 156,379,433 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01152,103,535 - 152,119,342 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X160,261,781 - 160,277,570 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1135,765,043 - 135,780,832 (-)NCBICelera
Cytogenetic MapXq37NCBI
Plxna3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955580957,860 - 972,772 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955580958,033 - 972,123 (+)NCBIChiLan1.0ChiLan1.0
PLXNA3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X153,772,700 - 153,786,167 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX153,772,700 - 153,786,167 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X143,900,029 - 143,915,391 (+)NCBIMhudiblu_PPA_v0panPan3
PLXNA3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X122,165,460 - 122,180,727 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX122,167,144 - 122,180,951 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X125,307,120 - 125,321,660 (+)NCBI
UMICH_Zoey_3.1X121,076,136 - 121,090,670 (+)NCBI
UNSW_CanFamBas_1.0X123,591,257 - 123,605,728 (+)NCBI
UU_Cfam_GSD_1.0X123,352,967 - 123,367,509 (+)NCBI
Plxna3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,471,987 - 119,488,955 (+)NCBI
SpeTri2.0NW_0049368091,209,787 - 1,226,726 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLXNA3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX124,984,190 - 124,997,067 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X124,982,307 - 124,997,098 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X143,588,358 - 143,603,211 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PLXNA3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X128,706,354 - 128,721,971 (+)NCBI
ChlSab1.1 EnsemblX128,708,424 - 128,721,971 (+)Ensembl
Plxna3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624946924,956 - 939,483 (+)NCBI

Position Markers
WI-13459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,701,834 - 153,701,968UniSTSGRCh37
Build 36X153,355,028 - 153,355,162RGDNCBI36
CeleraX153,862,885 - 153,863,019RGD
Cytogenetic MapXq28UniSTS
HuRefX142,278,887 - 142,279,021UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS
Whitehead-RH MapX323.2UniSTS
ECD00164  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,695,389 - 153,696,317UniSTSGRCh37
Build 36X153,348,583 - 153,349,511RGDNCBI36
CeleraX153,856,440 - 153,857,368RGD
Cytogenetic MapXq28UniSTS
HuRefX142,272,553 - 142,273,481UniSTS
ECD00210  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,699,325 - 153,700,249UniSTSGRCh37
Build 36X153,352,519 - 153,353,443RGDNCBI36
CeleraX153,860,376 - 153,861,300RGD
Cytogenetic MapXq28UniSTS
HuRefX142,276,489 - 142,277,302UniSTS
ECD00359  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,692,516 - 153,693,427UniSTSGRCh37
Build 36X153,345,710 - 153,346,621RGDNCBI36
CeleraX153,853,567 - 153,854,478RGD
Cytogenetic MapXq28UniSTS
HuRefX142,269,680 - 142,270,591UniSTS
ECD00412  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,698,309 - 153,699,217UniSTSGRCh37
Build 36X153,351,503 - 153,352,411RGDNCBI36
CeleraX153,859,360 - 153,860,268RGD
Cytogenetic MapXq28UniSTS
HuRefX142,275,473 - 142,276,381UniSTS
ECD00441  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,697,397 - 153,698,303UniSTSGRCh37
Build 36X153,350,591 - 153,351,497RGDNCBI36
CeleraX153,858,448 - 153,859,354RGD
Cytogenetic MapXq28UniSTS
HuRefX142,274,561 - 142,275,467UniSTS
ECD00573  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,696,397 - 153,697,296UniSTSGRCh37
Build 36X153,349,591 - 153,350,490RGDNCBI36
CeleraX153,857,448 - 153,858,347RGD
Cytogenetic MapXq28UniSTS
HuRefX142,273,561 - 142,274,460UniSTS
ECD00699  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,694,412 - 153,695,305UniSTSGRCh37
Build 36X153,347,606 - 153,348,499RGDNCBI36
CeleraX153,855,463 - 153,856,356RGD
Cytogenetic MapXq28UniSTS
HuRefX142,271,576 - 142,272,469UniSTS
ECD00726  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,693,458 - 153,694,350UniSTSGRCh37
Build 36X153,346,652 - 153,347,544RGDNCBI36
CeleraX153,854,509 - 153,855,401RGD
Cytogenetic MapXq28UniSTS
HuRefX142,270,622 - 142,271,514UniSTS
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
ECD10270  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,701,467 - 153,702,073UniSTSGRCh37
Build 36X153,354,661 - 153,355,267RGDNCBI36
CeleraX153,862,518 - 153,863,124RGD
Cytogenetic MapXq28UniSTS
HuRefX142,278,520 - 142,279,126UniSTS
ECD11845  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,700,860 - 153,701,420UniSTSGRCh37
Build 36X153,354,054 - 153,354,614RGDNCBI36
CeleraX153,861,911 - 153,862,471RGD
Cytogenetic MapXq28UniSTS
HuRefX142,277,913 - 142,278,473UniSTS
REN89648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,685,300 - 153,685,554UniSTSGRCh37
Build 36X153,338,494 - 153,338,748RGDNCBI36
CeleraX153,846,351 - 153,846,605RGD
Cytogenetic MapXq28UniSTS
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
REN89669  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,690,739 - 153,690,983UniSTSGRCh37
Build 36X153,343,933 - 153,344,177RGDNCBI36
CeleraX153,851,790 - 153,852,034RGD
Cytogenetic MapXq28UniSTS
HuRefX142,267,902 - 142,268,146UniSTS
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
REN89678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,692,834 - 153,693,090UniSTSGRCh37
Build 36X153,346,028 - 153,346,284RGDNCBI36
CeleraX153,853,885 - 153,854,141RGD
Cytogenetic MapXq28UniSTS
HuRefX142,269,998 - 142,270,254UniSTS
REN89679  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,693,059 - 153,693,292UniSTSGRCh37
Build 36X153,346,253 - 153,346,486RGDNCBI36
CeleraX153,854,110 - 153,854,343RGD
Cytogenetic MapXq28UniSTS
HuRefX142,270,223 - 142,270,456UniSTS
REN89680  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,693,285 - 153,693,547UniSTSGRCh37
Build 36X153,346,479 - 153,346,741RGDNCBI36
CeleraX153,854,336 - 153,854,598RGD
Cytogenetic MapXq28UniSTS
HuRefX142,270,449 - 142,270,711UniSTS
REN89681  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,693,535 - 153,693,791UniSTSGRCh37
Build 36X153,346,729 - 153,346,985RGDNCBI36
CeleraX153,854,586 - 153,854,842RGD
Cytogenetic MapXq28UniSTS
HuRefX142,270,699 - 142,270,955UniSTS
REN89682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,693,772 - 153,693,998UniSTSGRCh37
Build 36X153,346,966 - 153,347,192RGDNCBI36
CeleraX153,854,823 - 153,855,049RGD
Cytogenetic MapXq28UniSTS
HuRefX142,270,936 - 142,271,162UniSTS
REN89683  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,693,974 - 153,694,206UniSTSGRCh37
Build 36X153,347,168 - 153,347,400RGDNCBI36
CeleraX153,855,025 - 153,855,257RGD
Cytogenetic MapXq28UniSTS
HuRefX142,271,138 - 142,271,370UniSTS
REN89684  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,694,188 - 153,694,430UniSTSGRCh37
Build 36X153,347,382 - 153,347,624RGDNCBI36
CeleraX153,855,239 - 153,855,481RGD
Cytogenetic MapXq28UniSTS
HuRefX142,271,352 - 142,271,594UniSTS
REN89685  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,694,407 - 153,694,653UniSTSGRCh37
Build 36X153,347,601 - 153,347,847RGDNCBI36
CeleraX153,855,458 - 153,855,704RGD
Cytogenetic MapXq28UniSTS
HuRefX142,271,571 - 142,271,817UniSTS
REN89686  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,694,593 - 153,694,855UniSTSGRCh37
Build 36X153,347,787 - 153,348,049RGDNCBI36
CeleraX153,855,644 - 153,855,906RGD
Cytogenetic MapXq28UniSTS
HuRefX142,271,757 - 142,272,019UniSTS
REN89687  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,694,834 - 153,695,098UniSTSGRCh37
Build 36X153,348,028 - 153,348,292RGDNCBI36
CeleraX153,855,885 - 153,856,149RGD
Cytogenetic MapXq28UniSTS
HuRefX142,271,998 - 142,272,262UniSTS
REN89688  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,695,070 - 153,695,310UniSTSGRCh37
Build 36X153,348,264 - 153,348,504RGDNCBI36
CeleraX153,856,121 - 153,856,361RGD
Cytogenetic MapXq28UniSTS
HuRefX142,272,234 - 142,272,474UniSTS
REN89689  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,695,293 - 153,695,557UniSTSGRCh37
Build 36X153,348,487 - 153,348,751RGDNCBI36
CeleraX153,856,344 - 153,856,608RGD
Cytogenetic MapXq28UniSTS
HuRefX142,272,457 - 142,272,721UniSTS
REN89690  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,695,479 - 153,695,738UniSTSGRCh37
Build 36X153,348,673 - 153,348,932RGDNCBI36
CeleraX153,856,530 - 153,856,789RGD
Cytogenetic MapXq28UniSTS
HuRefX142,272,643 - 142,272,902UniSTS
REN89691  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,695,730 - 153,695,988UniSTSGRCh37
Build 36X153,348,924 - 153,349,182RGDNCBI36
CeleraX153,856,781 - 153,857,039RGD
Cytogenetic MapXq28UniSTS
HuRefX142,272,894 - 142,273,152UniSTS
REN89692  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,695,981 - 153,696,254UniSTSGRCh37
Build 36X153,349,175 - 153,349,448RGDNCBI36
CeleraX153,857,032 - 153,857,305RGD
Cytogenetic MapXq28UniSTS
HuRefX142,273,145 - 142,273,418UniSTS
REN89693  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,696,247 - 153,696,510UniSTSGRCh37
Build 36X153,349,441 - 153,349,704RGDNCBI36
CeleraX153,857,298 - 153,857,561RGD
Cytogenetic MapXq28UniSTS
HuRefX142,273,411 - 142,273,674UniSTS
REN89694  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,696,488 - 153,696,728UniSTSGRCh37
Build 36X153,349,682 - 153,349,922RGDNCBI36
CeleraX153,857,539 - 153,857,779RGD
Cytogenetic MapXq28UniSTS
HuRefX142,273,652 - 142,273,892UniSTS
REN89695  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,696,717 - 153,696,946UniSTSGRCh37
Build 36X153,349,911 - 153,350,140RGDNCBI36
CeleraX153,857,768 - 153,857,997RGD
Cytogenetic MapXq28UniSTS
HuRefX142,273,881 - 142,274,110UniSTS
REN89696  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,696,915 - 153,697,185UniSTSGRCh37
Build 36X153,350,109 - 153,350,379RGDNCBI36
CeleraX153,857,966 - 153,858,236RGD
Cytogenetic MapXq28UniSTS
HuRefX142,274,079 - 142,274,349UniSTS
REN89697  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,697,178 - 153,697,408UniSTSGRCh37
Build 36X153,350,372 - 153,350,602RGDNCBI36
CeleraX153,858,229 - 153,858,459RGD
Cytogenetic MapXq28UniSTS
HuRefX142,274,342 - 142,274,572UniSTS
REN89698  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,697,387 - 153,697,617UniSTSGRCh37
Build 36X153,350,581 - 153,350,811RGDNCBI36
CeleraX153,858,438 - 153,858,668RGD
Cytogenetic MapXq28UniSTS
HuRefX142,274,551 - 142,274,781UniSTS
REN89699  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,697,611 - 153,697,837UniSTSGRCh37
Build 36X153,350,805 - 153,351,031RGDNCBI36
CeleraX153,858,662 - 153,858,888RGD
Cytogenetic MapXq28UniSTS
HuRefX142,274,775 - 142,275,001UniSTS
REN89700  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,697,818 - 153,698,073UniSTSGRCh37
Build 36X153,351,012 - 153,351,267RGDNCBI36
CeleraX153,858,869 - 153,859,124RGD
Cytogenetic MapXq28UniSTS
HuRefX142,274,982 - 142,275,237UniSTS
REN89701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,698,061 - 153,698,313UniSTSGRCh37
Build 36X153,351,255 - 153,351,507RGDNCBI36
CeleraX153,859,112 - 153,859,364RGD
Cytogenetic MapXq28UniSTS
HuRefX142,275,225 - 142,275,477UniSTS
REN89702  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,698,309 - 153,698,568UniSTSGRCh37
Build 36X153,351,503 - 153,351,762RGDNCBI36
CeleraX153,859,360 - 153,859,619RGD
Cytogenetic MapXq28UniSTS
HuRefX142,275,473 - 142,275,732UniSTS
REN89703  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,698,508 - 153,698,774UniSTSGRCh37
Build 36X153,351,702 - 153,351,968RGDNCBI36
CeleraX153,859,559 - 153,859,825RGD
Cytogenetic MapXq28UniSTS
HuRefX142,275,672 - 142,275,938UniSTS
REN89704  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,698,752 - 153,699,010UniSTSGRCh37
Build 36X153,351,946 - 153,352,204RGDNCBI36
CeleraX153,859,803 - 153,860,061RGD
Cytogenetic MapXq28UniSTS
HuRefX142,275,916 - 142,276,174UniSTS
REN89705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,699,005 - 153,699,249UniSTSGRCh37
Build 36X153,352,199 - 153,352,443RGDNCBI36
CeleraX153,860,056 - 153,860,300RGD
Cytogenetic MapXq28UniSTS
HuRefX142,276,169 - 142,276,413UniSTS
REN89706  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,699,228 - 153,699,452UniSTSGRCh37
Build 36X153,352,422 - 153,352,646RGDNCBI36
CeleraX153,860,279 - 153,860,503RGD
Cytogenetic MapXq28UniSTS
HuRefX142,276,392 - 142,276,616UniSTS
REN89707  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,699,402 - 153,699,633UniSTSGRCh37
Build 36X153,352,596 - 153,352,827RGDNCBI36
CeleraX153,860,453 - 153,860,684RGD
Cytogenetic MapXq28UniSTS
REN89708  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,699,601 - 153,699,838UniSTSGRCh37
Build 36X153,352,795 - 153,353,032RGDNCBI36
CeleraX153,860,652 - 153,860,889RGD
Cytogenetic MapXq28UniSTS
REN89709  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,699,833 - 153,700,088UniSTSGRCh37
Build 36X153,353,027 - 153,353,282RGDNCBI36
CeleraX153,860,884 - 153,861,139RGD
Cytogenetic MapXq28UniSTS
HuRefX142,276,886 - 142,277,141UniSTS
REN89710  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,700,064 - 153,700,303UniSTSGRCh37
Build 36X153,353,258 - 153,353,497RGDNCBI36
CeleraX153,861,115 - 153,861,354RGD
Cytogenetic MapXq28UniSTS
HuRefX142,277,117 - 142,277,356UniSTS
REN89711  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,700,280 - 153,700,546UniSTSGRCh37
Build 36X153,353,474 - 153,353,740RGDNCBI36
CeleraX153,861,331 - 153,861,597RGD
Cytogenetic MapXq28UniSTS
HuRefX142,277,333 - 142,277,599UniSTS
REN89712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,700,496 - 153,700,753UniSTSGRCh37
Build 36X153,353,690 - 153,353,947RGDNCBI36
CeleraX153,861,547 - 153,861,804RGD
Cytogenetic MapXq28UniSTS
HuRefX142,277,549 - 142,277,806UniSTS
REN89713  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,700,736 - 153,701,006UniSTSGRCh37
Build 36X153,353,930 - 153,354,200RGDNCBI36
CeleraX153,861,787 - 153,862,057RGD
Cytogenetic MapXq28UniSTS
HuRefX142,277,789 - 142,278,059UniSTS
REN89714  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,700,984 - 153,701,208UniSTSGRCh37
Build 36X153,354,178 - 153,354,402RGDNCBI36
CeleraX153,862,035 - 153,862,259RGD
Cytogenetic MapXq28UniSTS
HuRefX142,278,037 - 142,278,261UniSTS
REN89715  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,701,184 - 153,701,425UniSTSGRCh37
Build 36X153,354,378 - 153,354,619RGDNCBI36
CeleraX153,862,235 - 153,862,476RGD
Cytogenetic MapXq28UniSTS
HuRefX142,278,237 - 142,278,478UniSTS
REN89716  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,701,409 - 153,701,662UniSTSGRCh37
Build 36X153,354,603 - 153,354,856RGDNCBI36
CeleraX153,862,460 - 153,862,713RGD
Cytogenetic MapXq28UniSTS
HuRefX142,278,462 - 142,278,715UniSTS
REN89717  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,701,639 - 153,701,870UniSTSGRCh37
Build 36X153,354,833 - 153,355,064RGDNCBI36
CeleraX153,862,690 - 153,862,921RGD
Cytogenetic MapXq28UniSTS
HuRefX142,278,692 - 142,278,923UniSTS
REN89718  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,701,836 - 153,702,080UniSTSGRCh37
Build 36X153,355,030 - 153,355,274RGDNCBI36
CeleraX153,862,887 - 153,863,131RGD
Cytogenetic MapXq28UniSTS
HuRefX142,278,889 - 142,279,133UniSTS
REN89719  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,702,052 - 153,702,282UniSTSGRCh37
Build 36X153,355,246 - 153,355,476RGDNCBI36
CeleraX153,863,103 - 153,863,333RGD
Cytogenetic MapXq28UniSTS
HuRefX142,279,105 - 142,279,335UniSTS
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
stSG604071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,693,794 - 153,695,002UniSTSGRCh37
Build 36X153,346,988 - 153,348,196RGDNCBI36
CeleraX153,854,845 - 153,856,053RGD
Cytogenetic MapXq28UniSTS
HuRefX142,270,958 - 142,272,166UniSTS
stSG604073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,696,298 - 153,697,320UniSTSGRCh37
Build 36X153,349,492 - 153,350,514RGDNCBI36
CeleraX153,857,349 - 153,858,371RGD
HuRefX142,273,462 - 142,274,484UniSTS
stSG604074  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,697,370 - 153,698,622UniSTSGRCh37
Build 36X153,350,564 - 153,351,816RGDNCBI36
CeleraX153,858,421 - 153,859,673RGD
HuRefX142,274,534 - 142,275,786UniSTS
stSG604075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,698,603 - 153,699,977UniSTSGRCh37
Build 36X153,351,797 - 153,353,171RGDNCBI36
CeleraX153,859,654 - 153,861,028RGD
HuRefX142,275,767 - 142,277,030UniSTS
stSG604076  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,699,958 - 153,701,420UniSTSGRCh37
Build 36X153,353,152 - 153,354,614RGDNCBI36
CeleraX153,861,009 - 153,862,471RGD
Cytogenetic MapXq28UniSTS
HuRefX142,277,011 - 142,278,473UniSTS
stSG604077  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,701,410 - 153,702,414UniSTSGRCh37
Build 36X153,354,604 - 153,355,608RGDNCBI36
CeleraX153,862,461 - 153,863,465RGD
HuRefX142,278,463 - 142,279,467UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3975
Count of miRNA genes:1160
Interacting mature miRNAs:1465
Transcripts:ENST00000369682, ENST00000467463, ENST00000478236, ENST00000480645, ENST00000482598, ENST00000491066, ENST00000493546, ENST00000495040, ENST00000497802
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1440 1382 1186 207 620 64 2863 512 1759 188 1173 1502 155 828 1783 4
Low 997 1542 534 411 1259 395 1454 1646 1974 223 287 110 20 1 376 970 2 2
Below cutoff 2 67 6 6 72 6 40 39 1 8 1 35

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_430556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC244090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW001914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF798844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG820285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ718472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ720233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX936365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB528571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD365141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD628272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN427843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN427844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN427848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN484803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY098587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY158513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X74609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X87197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X87852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000369682   ⟹   ENSP00000358696
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,458,281 - 154,477,779 (+)Ensembl
RefSeq Acc Id: ENST00000467463
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,466,419 - 154,467,175 (+)Ensembl
RefSeq Acc Id: ENST00000478236
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,466,091 - 154,466,765 (+)Ensembl
RefSeq Acc Id: ENST00000480645
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,468,617 - 154,468,869 (+)Ensembl
RefSeq Acc Id: ENST00000482598
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,464,449 - 154,464,980 (+)Ensembl
RefSeq Acc Id: ENST00000491066
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,468,661 - 154,469,350 (+)Ensembl
RefSeq Acc Id: ENST00000493546
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,469,082 - 154,470,708 (+)Ensembl
RefSeq Acc Id: ENST00000495040
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,458,284 - 154,461,374 (+)Ensembl
RefSeq Acc Id: ENST00000497802
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,470,847 - 154,472,696 (+)Ensembl
RefSeq Acc Id: NM_017514   ⟹   NP_059984
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,458,281 - 154,477,779 (+)NCBI
GRCh37X153,686,623 - 153,701,985 (+)RGD
Build 36X153,339,817 - 153,355,179 (+)NCBI Archive
CeleraX153,847,674 - 153,863,036 (+)RGD
HuRefX142,263,784 - 142,279,042 (+)NCBI
CHM1_1X153,598,265 - 153,613,630 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274705   ⟹   XP_005274762
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,458,287 - 154,473,642 (+)NCBI
GRCh37X153,686,623 - 153,701,985 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274706   ⟹   XP_005274763
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,458,337 - 154,473,642 (+)NCBI
GRCh37X153,686,623 - 153,701,985 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724829   ⟹   XP_006724892
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,458,287 - 154,473,642 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531183   ⟹   XP_011529485
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,460,649 - 154,473,642 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755709
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,458,287 - 154,472,602 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002958778
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,458,287 - 154,472,800 (+)NCBI
Sequence:
RefSeq Acc Id: XR_430556
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,458,287 - 154,467,893 (+)NCBI
Sequence:
RefSeq Acc Id: XR_938510
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,458,287 - 154,468,552 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_059984   ⟸   NM_017514
- Peptide Label: precursor
- UniProtKB: P51805 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274762   ⟸   XM_005274705
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005274763   ⟸   XM_005274706
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006724892   ⟸   XM_006724829
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011529485   ⟸   XM_011531183
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000358696   ⟸   ENST00000369682
Protein Domains
IPT/TIG   Sema

Promoters
RGD ID:6809132
Promoter ID:HG_KWN:68659
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000081634,   OTTHUMT00000286454
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,339,466 - 153,340,017 (+)MPROMDB
RGD ID:6809133
Promoter ID:HG_KWN:68660
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562
Transcripts:OTTHUMT00000316580
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,345,374 - 153,345,874 (+)MPROMDB
RGD ID:13628630
Promoter ID:EPDNEW_H29553
Type:initiation region
Name:PLXNA3_1
Description:plexin A3
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
GRCh38X154,458,281 - 154,458,341EPDNEW

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:10679-156013167)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 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 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 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 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 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 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 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 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:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX: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
NM_017514.4(PLXNA3):c.1383C>T (p.Pro461=) single nucleotide variant Malignant melanoma [RCV000073128] ChrX:154463456 [GRCh38]
ChrX:153691799 [GRCh37]
ChrX:153344993 [NCBI36]
ChrX:Xq28
not provided
GRCh37/hg19 Xq28(chrX:153576750-154563104)x1 copy number loss See cases [RCV000663390] ChrX:153576750..154563104 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 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 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 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 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 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 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:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 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 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 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 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 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 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 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 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 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 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 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 copy number gain See cases [RCV000138393] ChrX:153727116..154555423 [GRCh38]
ChrX:153333946..153783638 [GRCh37]
ChrX:152645765..153436832 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 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 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 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 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_017514.5(PLXNA3):c.1847G>A (p.Arg616Gln) single nucleotide variant Childhood-Onset Schizophrenia [RCV000202331] ChrX:154464420 [GRCh38]
ChrX:153692763 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153627408-154089925)x2 copy number gain See cases [RCV000240046] ChrX:153627408..154089925 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 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:168546-155233731)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 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_017514.5(PLXNA3):c.214G>A (p.Glu72Lys) single nucleotide variant Autistic disorder of childhood onset [RCV000477925] ChrX:154460397 [GRCh38]
ChrX:153688737 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NC_000023.10:g.(?_153295726)_(153786885_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000645139] ChrX:153295726..153786885 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_017514.5(PLXNA3):c.2936+8G>A single nucleotide variant not provided [RCV000513259] ChrX:154466520 [GRCh38]
ChrX:153694863 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq28(chrX:153581543-153858492)x2 copy number gain not provided [RCV000684413] ChrX:153581543..153858492 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153621005-153868484)x4 copy number gain not provided [RCV000684414] ChrX:153621005..153868484 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX: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
NM_017514.5(PLXNA3):c.1985C>T (p.Thr662Met) single nucleotide variant not provided [RCV000709913] ChrX:154464810 [GRCh38]
ChrX:153693153 [GRCh37]
ChrX:Xq28
not provided
NM_017514.5(PLXNA3):c.56G>A (p.Gly19Asp) single nucleotide variant Short stature [RCV000736201] ChrX:154460239 [GRCh38]
ChrX:153688579 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_017514.5(PLXNA3):c.1623G>C (p.Gln541His) single nucleotide variant Short stature [RCV000736200] ChrX:154464026 [GRCh38]
ChrX:153692369 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:153675171-153692561)x3 copy number gain not provided [RCV000753937] ChrX:153675171..153692561 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:153675171-153692834)x3 copy number gain not provided [RCV000753938] ChrX:153675171..153692834 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:153675171-153717512)x3 copy number gain not provided [RCV000753939] ChrX:153675171..153717512 [GRCh37]
ChrX:Xq28
benign
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:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_017514.5(PLXNA3):c.5478G>A (p.Ala1826=) single nucleotide variant not provided [RCV000896724] ChrX:154471596 [GRCh38]
ChrX:153699939 [GRCh37]
ChrX:Xq28
likely benign
NM_017514.5(PLXNA3):c.2342-8G>A single nucleotide variant not provided [RCV000884927] ChrX:154465649 [GRCh38]
ChrX:153693992 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.825C>T (p.Tyr275=) single nucleotide variant not provided [RCV000929542] ChrX:154461329 [GRCh38]
ChrX:153689669 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.1255G>A (p.Ala419Thr) single nucleotide variant not provided [RCV000903387] ChrX:154462248 [GRCh38]
ChrX:153690588 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.2245-7C>T single nucleotide variant not provided [RCV000904264] ChrX:154465417 [GRCh38]
ChrX:153693760 [GRCh37]
ChrX:Xq28
likely benign
NM_017514.5(PLXNA3):c.744G>A (p.Thr248=) single nucleotide variant not provided [RCV000972357] ChrX:154461248 [GRCh38]
ChrX:153689588 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.2721G>C (p.Pro907=) single nucleotide variant not provided [RCV000900614] ChrX:154466192 [GRCh38]
ChrX:153694535 [GRCh37]
ChrX:Xq28
likely benign
NM_017514.5(PLXNA3):c.1639A>G (p.Asn547Asp) single nucleotide variant not provided [RCV000901881] ChrX:154464042 [GRCh38]
ChrX:153692385 [GRCh37]
ChrX:Xq28
likely benign
NM_017514.5(PLXNA3):c.138C>T (p.Phe46=) single nucleotide variant not provided [RCV000925975] ChrX:154460321 [GRCh38]
ChrX:153688661 [GRCh37]
ChrX:Xq28
likely benign
NM_017514.5(PLXNA3):c.1958C>T (p.Pro653Leu) single nucleotide variant not provided [RCV000973066] ChrX:154464783 [GRCh38]
ChrX:153693126 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.4077C>T (p.Arg1359=) single nucleotide variant not provided [RCV000973067] ChrX:154468416 [GRCh38]
ChrX:153696759 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.882C>T (p.Ser294=) single nucleotide variant not provided [RCV000971096] ChrX:154461386 [GRCh38]
ChrX:153689726 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.1628G>A (p.Arg543Gln) single nucleotide variant not provided [RCV000905315] ChrX:154464031 [GRCh38]
ChrX:153692374 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.2289T>C (p.Phe763=) single nucleotide variant not provided [RCV000948168] ChrX:154465468 [GRCh38]
ChrX:153693811 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.2589G>C (p.Glu863Asp) single nucleotide variant not provided [RCV000948169] ChrX:154465991 [GRCh38]
ChrX:153694334 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.3723C>G (p.Ala1241=) single nucleotide variant not provided [RCV000948189] ChrX:154467904 [GRCh38]
ChrX:153696247 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.320G>A (p.Arg107His) single nucleotide variant not provided [RCV000901485] ChrX:154460503 [GRCh38]
ChrX:153688843 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_017514.5(PLXNA3):c.1121C>T (p.Pro374Leu) single nucleotide variant not provided [RCV000996074] ChrX:154461625 [GRCh38]
ChrX:153689965 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_017514.5(PLXNA3):c.3462T>G (p.Ala1154=) single nucleotide variant not provided [RCV000948188] ChrX:154467565 [GRCh38]
ChrX:153695908 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.1237G>A (p.Gly413Ser) single nucleotide variant not provided [RCV000898505] ChrX:154462230 [GRCh38]
ChrX:153690570 [GRCh37]
ChrX:Xq28
likely benign
NM_017514.5(PLXNA3):c.2202C>T (p.Ala734=) single nucleotide variant not provided [RCV000925325] ChrX:154465176 [GRCh38]
ChrX:153693519 [GRCh37]
ChrX:Xq28
likely benign
NM_017514.5(PLXNA3):c.2469G>A (p.Pro823=) single nucleotide variant not provided [RCV000908669] ChrX:154465784 [GRCh38]
ChrX:153694127 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.3513G>A (p.Pro1171=) single nucleotide variant not provided [RCV000892257] ChrX:154467616 [GRCh38]
ChrX:153695959 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.266G>A (p.Arg89His) single nucleotide variant not provided [RCV000901880] ChrX:154460449 [GRCh38]
ChrX:153688789 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.1150G>A (p.Gly384Ser) single nucleotide variant not provided [RCV000917701] ChrX:154462143 [GRCh38]
ChrX:153690483 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.2044-4G>A single nucleotide variant not provided [RCV000897702] ChrX:154465014 [GRCh38]
ChrX:153693357 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.1878G>A (p.Val626=) single nucleotide variant not provided [RCV000916826] ChrX:154464451 [GRCh38]
ChrX:153692794 [GRCh37]
ChrX:Xq28
likely benign
NM_017514.5(PLXNA3):c.5598C>T (p.Leu1866=) single nucleotide variant not provided [RCV000930158] ChrX:154472667 [GRCh38]
ChrX:153701010 [GRCh37]
ChrX:Xq28
likely benign
NM_017514.5(PLXNA3):c.402G>A (p.Pro134=) single nucleotide variant not provided [RCV000917381] ChrX:154460585 [GRCh38]
ChrX:153688925 [GRCh37]
ChrX:Xq28
likely benign
NM_017514.5(PLXNA3):c.5301G>A (p.Gly1767=) single nucleotide variant not provided [RCV000938153] ChrX:154471249 [GRCh38]
ChrX:153699592 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_017514.5(PLXNA3):c.71G>A (p.Arg24His) single nucleotide variant not provided [RCV000894389] ChrX:154460254 [GRCh38]
ChrX:153688594 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.1298G>A (p.Arg433His) single nucleotide variant not provided [RCV000963411] ChrX:154462291 [GRCh38]
ChrX:153690631 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.1740G>A (p.Ala580=) single nucleotide variant not provided [RCV000940694] ChrX:154464225 [GRCh38]
ChrX:153692568 [GRCh37]
ChrX:Xq28
likely benign
NM_017514.5(PLXNA3):c.12C>G (p.Val4=) single nucleotide variant not provided [RCV000958377] ChrX:154460195 [GRCh38]
ChrX:153688535 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:153556428-153868487)x2 copy number gain not provided [RCV000845970] ChrX:153556428..153868487 [GRCh37]
ChrX:Xq28
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 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq28(chrX:153566612-153731506)x2 copy number gain not provided [RCV000847027] ChrX:153566612..153731506 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153609873-153815499)x3 copy number gain not provided [RCV000847592] ChrX:153609873..153815499 [GRCh37]
ChrX:Xq28
uncertain significance
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)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_017514.5(PLXNA3):c.3441+5G>A single nucleotide variant not provided [RCV000927423] ChrX:154467476 [GRCh38]
ChrX:153695819 [GRCh37]
ChrX:Xq28
likely benign
NM_017514.5(PLXNA3):c.3219C>T (p.Asn1073=) single nucleotide variant not provided [RCV000974030] ChrX:154467249 [GRCh38]
ChrX:153695592 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.786C>T (p.Ile262=) single nucleotide variant not provided [RCV000974070] ChrX:154461290 [GRCh38]
ChrX:153689630 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.1737G>A (p.Ala579=) single nucleotide variant not provided [RCV000907920] ChrX:154464222 [GRCh38]
ChrX:153692565 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.4001G>A (p.Gly1334Glu) single nucleotide variant not provided [RCV000948170] ChrX:154468340 [GRCh38]
ChrX:153696683 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.933G>A (p.Pro311=) single nucleotide variant not provided [RCV000886382] ChrX:154461437 [GRCh38]
ChrX:153689777 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.1510G>A (p.Gly504Arg) single nucleotide variant not provided [RCV000898317] ChrX:154463653 [GRCh38]
ChrX:153691996 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.172C>T (p.Pro58Ser) single nucleotide variant not provided [RCV000953409] ChrX:154460355 [GRCh38]
ChrX:153688695 [GRCh37]
ChrX:Xq28
likely benign
NM_017514.5(PLXNA3):c.1896C>T (p.Asp632=) single nucleotide variant not provided [RCV000910447] ChrX:154464469 [GRCh38]
ChrX:153692812 [GRCh37]
ChrX:Xq28
likely benign
NM_017514.5(PLXNA3):c.1296G>A (p.Thr432=) single nucleotide variant not provided [RCV000890377] ChrX:154462289 [GRCh38]
ChrX:153690629 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.3405G>A (p.Val1135=) single nucleotide variant not provided [RCV000913996] ChrX:154467435 [GRCh38]
ChrX:153695778 [GRCh37]
ChrX:Xq28
benign
NM_017514.5(PLXNA3):c.720_734del (p.Leu241_Thr245del) deletion not provided [RCV001091836] ChrX:154461222..154461236 [GRCh38]
ChrX:153689562..153689576 [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
NM_017514.5(PLXNA3):c.2002C>G (p.His668Asp) single nucleotide variant Neurodevelopmental disorder [RCV001262953] ChrX:154464827 [GRCh38]
ChrX:153693170 [GRCh37]
ChrX:Xq28
uncertain significance
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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9101 AgrOrtholog
COSMIC PLXNA3 COSMIC
Ensembl Genes ENSG00000130827 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000358696 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000369682 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot
  2.60.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000130827 GTEx
HGNC ID HGNC:9101 ENTREZGENE
Human Proteome Map PLXNA3 Human Proteome Map
InterPro Ig-like_fold UniProtKB/Swiss-Prot
  Ig_E-set UniProtKB/Swiss-Prot
  IPT_dom UniProtKB/Swiss-Prot
  Plexin UniProtKB/Swiss-Prot
  Plexin_cytoplasmic_RasGAP_dom UniProtKB/Swiss-Prot
  Plexin_repeat UniProtKB/Swiss-Prot
  PSI UniProtKB/Swiss-Prot
  Rho_GTPase_activation_prot UniProtKB/Swiss-Prot
  Semap_dom UniProtKB/Swiss-Prot
  Semap_dom_sf UniProtKB/Swiss-Prot
  TIG1_plexin UniProtKB/Swiss-Prot
  TIG2_plexin UniProtKB/Swiss-Prot
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:55558 UniProtKB/Swiss-Prot
NCBI Gene 55558 ENTREZGENE
OMIM 300022 OMIM
PANTHER PTHR22625 UniProtKB/Swiss-Prot
Pfam Plexin_cytopl UniProtKB/Swiss-Prot
  PSI UniProtKB/Swiss-Prot
  Sema UniProtKB/Swiss-Prot
  TIG UniProtKB/Swiss-Prot
  TIG_2 UniProtKB/Swiss-Prot
  TIG_plexin UniProtKB/Swiss-Prot
PharmGKB PA33427 PharmGKB
PROSITE SEMA UniProtKB/Swiss-Prot
SMART IPT UniProtKB/Swiss-Prot
  PSI UniProtKB/Swiss-Prot
  Sema UniProtKB/Swiss-Prot
Superfamily-SCOP SSF101912 UniProtKB/Swiss-Prot
  SSF48350 UniProtKB/Swiss-Prot
  SSF81296 UniProtKB/Swiss-Prot
UniProt L8ECH0_HUMAN UniProtKB/TrEMBL
  P51805 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q5HY36 UniProtKB/Swiss-Prot