ARMCX2 (armadillo repeat containing X-linked 2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: ARMCX2 (armadillo repeat containing X-linked 2) Homo sapiens
Analyze
Symbol: ARMCX2
Name: armadillo repeat containing X-linked 2
RGD ID: 1602335
HGNC Page HGNC
Description: Predicted to localize to mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ALEX2; ARM protein lost in epithelial cancers on chromosome X 2; arm protein lost in epithelial cancers, X chromosome, 2; armadillo repeat containing, X-linked 2; armadillo repeat protein ALEX2; armadillo repeat-containing X-linked protein 2; GASP9; KIAA0512; MGC13343; MGC8742
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC347674  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX101,655,281 - 101,659,850 (-)EnsemblGRCh38hg38GRCh38
GRCh38X101,655,281 - 101,659,878 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X100,910,267 - 100,914,835 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X100,796,923 - 100,801,519 (-)NCBINCBI36hg18NCBI36
CeleraX101,430,845 - 101,435,442 (-)NCBI
Cytogenetic MapXq22.1NCBI
HuRefX90,717,786 - 90,722,384 (-)NCBIHuRef
CHM1_1X100,804,126 - 100,808,736 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:9628581   PMID:11162520   PMID:12477932   PMID:15146197   PMID:15383276   PMID:15489334   PMID:15772651   PMID:16221301   PMID:21516116   PMID:21873635   PMID:22249249  
PMID:22569362   PMID:23414517   PMID:27634302   PMID:29568061   PMID:29656893   PMID:30021884   PMID:31091453   PMID:31536960   PMID:31723608   PMID:32685472   PMID:32877691  


Genomics

Comparative Map Data
ARMCX2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX101,655,281 - 101,659,850 (-)EnsemblGRCh38hg38GRCh38
GRCh38X101,655,281 - 101,659,878 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X100,910,267 - 100,914,835 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X100,796,923 - 100,801,519 (-)NCBINCBI36hg18NCBI36
CeleraX101,430,845 - 101,435,442 (-)NCBI
Cytogenetic MapXq22.1NCBI
HuRefX90,717,786 - 90,722,384 (-)NCBIHuRef
CHM1_1X100,804,126 - 100,808,736 (-)NCBICHM1_1
Armcx2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X133,704,891 - 133,709,970 (-)NCBIGRCm39mm39
GRCm39 EnsemblX133,704,894 - 133,709,970 (-)Ensembl
GRCm38X134,804,142 - 134,809,221 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX134,804,145 - 134,809,221 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X131,338,681 - 131,343,760 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X130,150,511 - 130,155,358 (-)NCBImm8
CeleraX117,689,899 - 117,695,175 (-)NCBICelera
Cytogenetic MapXE3NCBI
Armcx2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X97,980,662 - 97,985,523 (-)NCBI
Rnor_6.0 EnsemblX105,617,385 - 105,622,156 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X105,617,383 - 105,622,209 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X105,506,649 - 105,511,422 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X122,260,901 - 122,266,470 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X122,334,335 - 122,339,903 (-)NCBI
CeleraX99,020,283 - 99,025,056 (-)NCBICelera
Cytogenetic MapXq32NCBI
Armcx2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555037,756,429 - 7,758,366 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555037,756,032 - 7,760,573 (-)NCBIChiLan1.0ChiLan1.0
ARMCX2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X100,984,392 - 100,988,995 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0X90,855,629 - 90,860,260 (-)NCBIMhudiblu_PPA_v0panPan3
ARMCX2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X75,517,183 - 75,521,486 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX75,517,407 - 75,519,218 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X76,937,039 - 76,941,529 (-)NCBI
UMICH_Zoey_3.1X74,501,328 - 74,505,818 (-)NCBI
UNSW_CanFamBas_1.0X76,161,775 - 76,166,267 (-)NCBI
UU_Cfam_GSD_1.0X75,924,469 - 75,928,961 (-)NCBI
Armcx2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X62,820,100 - 62,825,624 (+)NCBI
SpeTri2.0NW_004936813649,463 - 655,013 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARMCX2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX83,213,939 - 83,224,392 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X83,213,939 - 83,218,601 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X97,075,719 - 97,085,641 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ARMCX2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X89,972,285 - 89,975,126 (-)NCBI
Armcx2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624902861,362 - 865,926 (+)NCBI

Position Markers
G19687  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,910,339 - 100,910,458UniSTSGRCh37
Build 36X100,796,995 - 100,797,114RGDNCBI36
CeleraX101,430,917 - 101,431,036RGD
Cytogenetic MapXq21.33-q22.2UniSTS
HuRefX90,717,858 - 90,717,977UniSTS
A001V26  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,910,339 - 100,910,458UniSTSGRCh37
Build 36X100,796,995 - 100,797,114RGDNCBI36
CeleraX101,430,917 - 101,431,036RGD
Cytogenetic MapXq21.33-q22.2UniSTS
HuRefX90,717,858 - 90,717,977UniSTS
GeneMap99-GB4 RH MapX272.33UniSTS
DXS7453  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,910,300 - 100,910,453UniSTSGRCh37
Build 36X100,796,956 - 100,797,109RGDNCBI36
CeleraX101,430,878 - 101,431,031RGD
Cytogenetic MapXq21.33-q22.2UniSTS
HuRefX90,717,819 - 90,717,972UniSTS
SGC30561  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,910,301 - 100,910,406UniSTSGRCh37
Build 36X100,796,957 - 100,797,062RGDNCBI36
CeleraX101,430,879 - 101,430,984RGD
Cytogenetic MapXq21.33-q22.2UniSTS
HuRefX90,717,820 - 90,717,925UniSTS
GeneMap99-GB4 RH MapX271.74UniSTS
Whitehead-RH MapX253.6UniSTS
ARMCX2_8998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,910,457 - 100,911,181UniSTSGRCh37
Build 36X100,797,113 - 100,797,837RGDNCBI36
CeleraX101,431,035 - 101,431,759RGD
HuRefX90,717,976 - 90,718,700UniSTS
RH46199  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,910,359 - 100,910,511UniSTSGRCh37
Build 36X100,797,015 - 100,797,167RGDNCBI36
CeleraX101,430,937 - 101,431,089RGD
Cytogenetic MapXq21.33-q22.2UniSTS
HuRefX90,717,878 - 90,718,030UniSTS
GeneMap99-GB4 RH MapX272.95UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3709
Count of miRNA genes:1017
Interacting mature miRNAs:1229
Transcripts:ENST00000328766, ENST00000330154, ENST00000356824, ENST00000413506, ENST00000431597, ENST00000433318, ENST00000440675, ENST00000458024, ENST00000467416, ENST00000475854, ENST00000479333, ENST00000488982, ENST00000496581
Prediction methods:Microtar, Miranda, Pita, 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 1832 1919 1281 168 839 26 2343 1119 3268 340 1106 1476 149 1 945 1453 3 2
Low 513 748 418 429 635 410 2006 1067 462 57 321 95 22 259 1334 1
Below cutoff 38 323 20 20 376 21 4 7 10 13 24 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_177949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005278109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005278110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005278111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005278113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005278114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005278115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005278116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005278117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB011084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC234775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL709063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG548388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM676866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN391032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000328766   ⟹   ENSP00000331662
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,655,281 - 101,659,844 (-)Ensembl
RefSeq Acc Id: ENST00000330154   ⟹   ENSP00000328631
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,655,281 - 101,658,649 (-)Ensembl
RefSeq Acc Id: ENST00000356824   ⟹   ENSP00000349281
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,655,281 - 101,659,850 (-)Ensembl
RefSeq Acc Id: ENST00000413506   ⟹   ENSP00000412481
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,657,087 - 101,659,834 (-)Ensembl
RefSeq Acc Id: ENST00000431597   ⟹   ENSP00000405376
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,657,401 - 101,659,796 (-)Ensembl
RefSeq Acc Id: ENST00000433318   ⟹   ENSP00000410151
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,657,093 - 101,658,621 (-)Ensembl
RefSeq Acc Id: ENST00000440675   ⟹   ENSP00000393778
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,657,275 - 101,659,835 (-)Ensembl
RefSeq Acc Id: ENST00000458024   ⟹   ENSP00000415490
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,657,311 - 101,659,831 (-)Ensembl
RefSeq Acc Id: ENST00000467416
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,657,357 - 101,658,594 (-)Ensembl
RefSeq Acc Id: ENST00000475854
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,659,200 - 101,659,830 (-)Ensembl
RefSeq Acc Id: ENST00000479333
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,657,518 - 101,659,836 (-)Ensembl
RefSeq Acc Id: ENST00000488982
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,658,081 - 101,659,177 (-)Ensembl
RefSeq Acc Id: ENST00000496581
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX101,657,667 - 101,659,833 (-)Ensembl
RefSeq Acc Id: NM_001282231   ⟹   NP_001269160
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,659,850 (-)NCBI
HuRefX90,717,786 - 90,722,397 (-)NCBI
CHM1_1X100,804,126 - 100,808,736 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014782   ⟹   NP_055597
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,659,850 (-)NCBI
GRCh37X100,910,267 - 100,914,894 (-)NCBI
Build 36X100,796,923 - 100,801,519 (-)NCBI Archive
CeleraX101,430,845 - 101,435,442 (-)RGD
HuRefX90,717,786 - 90,722,397 (-)NCBI
CHM1_1X100,804,126 - 100,808,736 (-)NCBI
Sequence:
RefSeq Acc Id: NM_177949   ⟹   NP_808818
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,659,850 (-)NCBI
GRCh37X100,910,267 - 100,914,894 (-)NCBI
Build 36X100,796,923 - 100,801,519 (-)NCBI Archive
CeleraX101,430,845 - 101,435,442 (-)RGD
HuRefX90,717,786 - 90,722,397 (-)NCBI
CHM1_1X100,804,126 - 100,808,736 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005278109   ⟹   XP_005278166
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,659,878 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005278110   ⟹   XP_005278167
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,659,878 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005278111   ⟹   XP_005278168
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,659,878 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005278113   ⟹   XP_005278170
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,659,878 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005278114   ⟹   XP_005278171
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,659,878 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005278115   ⟹   XP_005278172
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,659,878 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005278116   ⟹   XP_005278173
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,659,878 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005278117   ⟹   XP_005278174
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,659,878 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531071   ⟹   XP_011529373
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,659,878 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531072   ⟹   XP_011529374
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,659,878 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029987   ⟹   XP_016885476
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,659,855 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029988   ⟹   XP_016885477
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,659,855 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029989   ⟹   XP_016885478
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,659,850 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029990   ⟹   XP_016885479
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,659,878 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029991   ⟹   XP_016885480
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,659,878 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029992   ⟹   XP_016885481
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,659,878 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029993   ⟹   XP_016885482
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,659,850 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029994   ⟹   XP_016885483
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,659,850 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029995   ⟹   XP_016885484
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,659,849 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029996   ⟹   XP_016885485
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,659,147 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029997   ⟹   XP_016885486
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,658,469 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452483   ⟹   XP_024308251
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,659,878 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452484   ⟹   XP_024308252
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,655,281 - 101,659,830 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001269160 (Get FASTA)   NCBI Sequence Viewer  
  NP_055597 (Get FASTA)   NCBI Sequence Viewer  
  NP_808818 (Get FASTA)   NCBI Sequence Viewer  
  XP_005278166 (Get FASTA)   NCBI Sequence Viewer  
  XP_005278167 (Get FASTA)   NCBI Sequence Viewer  
  XP_005278168 (Get FASTA)   NCBI Sequence Viewer  
  XP_005278170 (Get FASTA)   NCBI Sequence Viewer  
  XP_005278171 (Get FASTA)   NCBI Sequence Viewer  
  XP_005278172 (Get FASTA)   NCBI Sequence Viewer  
  XP_005278173 (Get FASTA)   NCBI Sequence Viewer  
  XP_005278174 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529373 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529374 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885476 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885477 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885478 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885479 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885480 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885481 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885482 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885483 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885484 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885485 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885486 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308251 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308252 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH12541 (Get FASTA)   NCBI Sequence Viewer  
  AAH15926 (Get FASTA)   NCBI Sequence Viewer  
  BAA25438 (Get FASTA)   NCBI Sequence Viewer  
  BAF84031 (Get FASTA)   NCBI Sequence Viewer  
  CAI42019 (Get FASTA)   NCBI Sequence Viewer  
  CAI42020 (Get FASTA)   NCBI Sequence Viewer  
  CAI42021 (Get FASTA)   NCBI Sequence Viewer  
  CAI42022 (Get FASTA)   NCBI Sequence Viewer  
  CAI42023 (Get FASTA)   NCBI Sequence Viewer  
  CAI42024 (Get FASTA)   NCBI Sequence Viewer  
  EAX02885 (Get FASTA)   NCBI Sequence Viewer  
  EAX02886 (Get FASTA)   NCBI Sequence Viewer  
  EAX02887 (Get FASTA)   NCBI Sequence Viewer  
  EAX02888 (Get FASTA)   NCBI Sequence Viewer  
  EAX02889 (Get FASTA)   NCBI Sequence Viewer  
  EAX02890 (Get FASTA)   NCBI Sequence Viewer  
  EAX02891 (Get FASTA)   NCBI Sequence Viewer  
  Q7L311 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_808818   ⟸   NM_177949
- UniProtKB: Q7L311 (UniProtKB/Swiss-Prot),   A0A024RCG7 (UniProtKB/TrEMBL),   A8K5M7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_055597   ⟸   NM_014782
- UniProtKB: Q7L311 (UniProtKB/Swiss-Prot),   A0A024RCG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269160   ⟸   NM_001282231
- UniProtKB: Q7L311 (UniProtKB/Swiss-Prot),   A0A024RCG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005278170   ⟸   XM_005278113
- Peptide Label: isoform X1
- UniProtKB: Q7L311 (UniProtKB/Swiss-Prot),   A0A024RCG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005278172   ⟸   XM_005278115
- Peptide Label: isoform X1
- UniProtKB: Q7L311 (UniProtKB/Swiss-Prot),   A0A024RCG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005278171   ⟸   XM_005278114
- Peptide Label: isoform X1
- UniProtKB: Q7L311 (UniProtKB/Swiss-Prot),   A0A024RCG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005278174   ⟸   XM_005278117
- Peptide Label: isoform X1
- UniProtKB: Q7L311 (UniProtKB/Swiss-Prot),   A0A024RCG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005278168   ⟸   XM_005278111
- Peptide Label: isoform X1
- UniProtKB: Q7L311 (UniProtKB/Swiss-Prot),   A0A024RCG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005278167   ⟸   XM_005278110
- Peptide Label: isoform X1
- UniProtKB: Q7L311 (UniProtKB/Swiss-Prot),   A0A024RCG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005278173   ⟸   XM_005278116
- Peptide Label: isoform X1
- UniProtKB: Q7L311 (UniProtKB/Swiss-Prot),   A0A024RCG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005278166   ⟸   XM_005278109
- Peptide Label: isoform X1
- UniProtKB: Q7L311 (UniProtKB/Swiss-Prot),   A0A024RCG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529373   ⟸   XM_011531071
- Peptide Label: isoform X1
- UniProtKB: Q7L311 (UniProtKB/Swiss-Prot),   A0A024RCG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529374   ⟸   XM_011531072
- Peptide Label: isoform X1
- UniProtKB: Q7L311 (UniProtKB/Swiss-Prot),   A0A024RCG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885480   ⟸   XM_017029991
- Peptide Label: isoform X1
- UniProtKB: Q7L311 (UniProtKB/Swiss-Prot),   A0A024RCG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885479   ⟸   XM_017029990
- Peptide Label: isoform X1
- UniProtKB: Q7L311 (UniProtKB/Swiss-Prot),   A0A024RCG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885481   ⟸   XM_017029992
- Peptide Label: isoform X1
- UniProtKB: Q7L311 (UniProtKB/Swiss-Prot),   A0A024RCG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885477   ⟸   XM_017029988
- Peptide Label: isoform X1
- UniProtKB: Q7L311 (UniProtKB/Swiss-Prot),   A0A024RCG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885476   ⟸   XM_017029987
- Peptide Label: isoform X1
- UniProtKB: Q7L311 (UniProtKB/Swiss-Prot),   A0A024RCG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885483   ⟸   XM_017029994
- Peptide Label: isoform X1
- UniProtKB: Q7L311 (UniProtKB/Swiss-Prot),   A0A024RCG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885482   ⟸   XM_017029993
- Peptide Label: isoform X1
- UniProtKB: Q7L311 (UniProtKB/Swiss-Prot),   A0A024RCG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885478   ⟸   XM_017029989
- Peptide Label: isoform X1
- UniProtKB: Q7L311 (UniProtKB/Swiss-Prot),   A0A024RCG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885484   ⟸   XM_017029995
- Peptide Label: isoform X1
- UniProtKB: Q7L311 (UniProtKB/Swiss-Prot),   A0A024RCG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885485   ⟸   XM_017029996
- Peptide Label: isoform X1
- UniProtKB: Q7L311 (UniProtKB/Swiss-Prot),   A0A024RCG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885486   ⟸   XM_017029997
- Peptide Label: isoform X1
- UniProtKB: Q7L311 (UniProtKB/Swiss-Prot),   A0A024RCG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308251   ⟸   XM_024452483
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024308252   ⟸   XM_024452484
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000412481   ⟸   ENST00000413506
RefSeq Acc Id: ENSP00000393778   ⟸   ENST00000440675
RefSeq Acc Id: ENSP00000415490   ⟸   ENST00000458024
RefSeq Acc Id: ENSP00000405376   ⟸   ENST00000431597
RefSeq Acc Id: ENSP00000331662   ⟸   ENST00000328766
RefSeq Acc Id: ENSP00000410151   ⟸   ENST00000433318
RefSeq Acc Id: ENSP00000349281   ⟸   ENST00000356824
RefSeq Acc Id: ENSP00000328631   ⟸   ENST00000330154
Protein Domains
Arm_2

Promoters
RGD ID:6808508
Promoter ID:HG_KWN:67523
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:UC010NNU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X100,798,036 - 100,799,767 (-)MPROMDB
RGD ID:6808507
Promoter ID:HG_KWN:67524
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:ENST00000330154,   OTTHUMT00000057582,   OTTHUMT00000057583,   OTTHUMT00000057585
Position:
Human AssemblyChrPosition (strand)Source
Build 36X100,800,376 - 100,801,567 (-)MPROMDB
RGD ID:6808505
Promoter ID:HG_KWN:67525
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000057576,   OTTHUMT00000057577,   OTTHUMT00000057578,   OTTHUMT00000057579,   OTTHUMT00000057580,   OTTHUMT00000057581,   OTTHUMT00000057584,   OTTHUMT00000057586,   OTTHUMT00000057587,   UC004EIG.2,   UC010NNT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X100,801,196 - 100,801,696 (-)MPROMDB
RGD ID:13627652
Promoter ID:EPDNEW_H29101
Type:multiple initiation site
Name:ARMCX2_1
Description:armadillo repeat containing, X-linked 2
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
GRCh38X101,659,850 - 101,659,910EPDNEW

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 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
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 Xq22.1-22.3(chrX:101407698-106274188)x1 copy number loss See cases [RCV000051715] ChrX:101407698..106274188 [GRCh38]
ChrX:100772737..105517404 [GRCh37]
ChrX:100549342..105404060 [NCBI36]
ChrX:Xq22.1-22.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xq21.31-22.3(chrX:89372737-106174548)x3 copy number gain See cases [RCV000052440] ChrX:89372737..106174548 [GRCh38]
ChrX:88627736..105418541 [GRCh37]
ChrX:88514392..105305197 [NCBI36]
ChrX:Xq21.31-22.3
pathogenic
GRCh38/hg38 Xq22.1-22.3(chrX:101620923-107632397)x3 copy number gain See cases [RCV000052441] ChrX:101620923..107632397 [GRCh38]
ChrX:100875913..106875627 [GRCh37]
ChrX:100762569..106762283 [NCBI36]
ChrX:Xq22.1-22.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)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 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 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 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 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 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 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 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 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 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 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 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-22.3(chrX:95823036-104957737)x1 copy number loss See cases [RCV000139979] ChrX:95823036..104957737 [GRCh38]
ChrX:95078035..104202418 [GRCh37]
ChrX:94964691..104089074 [NCBI36]
ChrX:Xq21.33-22.3
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 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23
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 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 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-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 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
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 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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
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: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 Xq22.1-22.2(chrX:99611312-103506684) copy number gain See cases [RCV000447561] ChrX:99611312..103506684 [GRCh37]
ChrX:Xq22.1-22.2
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 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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23
pathogenic|uncertain significance
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 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:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
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 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
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
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq22.1(chrX:100852505-101986687)x0 copy number loss See cases [RCV000512439] ChrX:100852505..101986687 [GRCh37]
ChrX:Xq22.1
likely 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 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 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [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: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
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.1-22.2(chrX:100866604-103411980)x1 copy number loss Early Onset Neurological Disease Trait [RCV000993772] ChrX:100866604..103411980 [GRCh37]
ChrX:Xq22.1-22.2
pathogenic
GRCh37/hg19 Xq22.1(chrX:100868897-102422345)x1 copy number loss not provided [RCV000846776] ChrX:100868897..102422345 [GRCh37]
ChrX:Xq22.1
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 Xq22.1(chrX:100713166-101024110)x2 copy number gain not provided [RCV000847086] ChrX:100713166..101024110 [GRCh37]
ChrX:Xq22.1
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 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
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 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
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:16869 AgrOrtholog
COSMIC ARMCX2 COSMIC
Ensembl Genes ENSG00000184867 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000328631 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000331662 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000349281 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000393778 UniProtKB/TrEMBL
  ENSP00000405376 UniProtKB/TrEMBL
  ENSP00000410151 UniProtKB/TrEMBL
  ENSP00000412481 UniProtKB/TrEMBL
  ENSP00000415490 UniProtKB/TrEMBL
Ensembl Transcript ENST00000328766 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000330154 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000356824 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000413506 UniProtKB/TrEMBL
  ENST00000431597 UniProtKB/TrEMBL
  ENST00000433318 UniProtKB/TrEMBL
  ENST00000440675 UniProtKB/TrEMBL
  ENST00000458024 UniProtKB/TrEMBL
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000184867 GTEx
HGNC ID HGNC:16869 ENTREZGENE
Human Proteome Map ARMCX2 Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-rpt_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Armadillo UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9823 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9823 ENTREZGENE
OMIM 300363 OMIM
Pfam Arm_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134985862 PharmGKB
SMART ARM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RCG7 ENTREZGENE, UniProtKB/TrEMBL
  A0A0B4J1X4_HUMAN UniProtKB/TrEMBL
  A0A1B0GXK8_HUMAN UniProtKB/TrEMBL
  A8K5M7 ENTREZGENE, UniProtKB/TrEMBL
  ARMX2_HUMAN UniProtKB/Swiss-Prot
  Q5H9D7_HUMAN UniProtKB/TrEMBL
  Q5H9D8_HUMAN UniProtKB/TrEMBL
  Q5H9E0_HUMAN UniProtKB/TrEMBL
  Q5H9E1_HUMAN UniProtKB/TrEMBL
  Q7L311 ENTREZGENE
UniProt Secondary A0A0A6YYR4 UniProtKB/TrEMBL
  A0A0K0K1A8 UniProtKB/TrEMBL
  F6R4S2 UniProtKB/TrEMBL
  F6RVQ2 UniProtKB/TrEMBL
  F6U7B8 UniProtKB/TrEMBL
  F6UQY7 UniProtKB/TrEMBL
  O60267 UniProtKB/Swiss-Prot
  Q5H9D9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 ARMCX2  armadillo repeat containing X-linked 2  ARMCX2  armadillo repeat containing, X-linked 2  Symbol and/or name change 5135510 APPROVED