ARMCX5 (armadillo repeat containing X-linked 5) - Rat Genome Database

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Gene: ARMCX5 (armadillo repeat containing X-linked 5) Homo sapiens
Analyze
Symbol: ARMCX5
Name: armadillo repeat containing X-linked 5
RGD ID: 1350791
HGNC Page HGNC:25772
Description: ASSOCIATED WITH Autism; autistic disorder; genetic disease; INTERACTS WITH acrylamide; aflatoxin B1; antirheumatic drug
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: armadillo repeat containing, X-linked 5; armadillo repeat-containing X-linked protein 5; DKFZp686A22185; FLJ12969; FLJ13382; GASP5
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
GRCh38X102,599,206 - 102,604,159 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX102,599,168 - 102,604,159 (+)EnsemblGRCh38hg38GRCh38
GRCh37X101,854,134 - 101,859,087 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X101,740,814 - 101,745,743 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X101,660,302 - 101,665,228NCBI
CeleraX102,292,727 - 102,297,718 (+)NCBICelera
Cytogenetic MapXq22.1NCBI
HuRefX91,519,527 - 91,524,518 (+)NCBIHuRef
CHM1_1X101,746,769 - 101,751,760 (+)NCBICHM1_1
T2T-CHM13v2.0X101,044,161 - 101,049,114 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:14702039   PMID:15342556   PMID:15489334   PMID:15772651   PMID:16221301   PMID:16344560   PMID:18029348   PMID:22569362   PMID:23284306   PMID:24778252   PMID:25416956   PMID:26972000  
PMID:28065597   PMID:28514442   PMID:29395067   PMID:29872149   PMID:30021884   PMID:32296183   PMID:32393512   PMID:32814053   PMID:33961781   PMID:35256949   PMID:35271311   PMID:35687106  


Genomics

Comparative Map Data
ARMCX5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X102,599,206 - 102,604,159 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX102,599,168 - 102,604,159 (+)EnsemblGRCh38hg38GRCh38
GRCh37X101,854,134 - 101,859,087 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X101,740,814 - 101,745,743 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X101,660,302 - 101,665,228NCBI
CeleraX102,292,727 - 102,297,718 (+)NCBICelera
Cytogenetic MapXq22.1NCBI
HuRefX91,519,527 - 91,524,518 (+)NCBIHuRef
CHM1_1X101,746,769 - 101,751,760 (+)NCBICHM1_1
T2T-CHM13v2.0X101,044,161 - 101,049,114 (+)NCBIT2T-CHM13v2.0
Armcx5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X134,643,482 - 134,648,077 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX134,643,482 - 134,648,071 (+)EnsemblGRCm39 Ensembl
GRCm38X135,742,692 - 135,747,328 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX135,742,733 - 135,747,322 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X132,277,231 - 132,281,867 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X131,089,056 - 131,093,684 (+)NCBIMGSCv36mm8
CeleraX119,059,474 - 119,064,110 (+)NCBICelera
Cytogenetic MapXF1NCBI
cM MapX57.26NCBI
Armcx5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X103,501,552 - 103,505,978 (+)NCBIGRCr8
mRatBN7.2X98,709,921 - 98,714,347 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX98,709,841 - 98,714,674 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX100,842,702 - 100,847,129 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X104,353,309 - 104,357,736 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X101,906,996 - 101,911,424 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X106,252,677 - 106,255,383 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX106,253,355 - 106,255,058 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X106,864,741 - 106,867,373 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
CeleraX100,430,636 - 100,433,342 (-)NCBICelera
Cytogenetic MapXq32NCBI
Armcx5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955548108,330 - 112,490 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955548107,660 - 113,316 (+)NCBIChiLan1.0ChiLan1.0
ARMCX5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X102,202,881 - 102,204,943 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X102,206,485 - 102,208,563 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X91,817,496 - 91,822,489 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X102,197,982 - 102,254,439 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX102,200,957 - 102,202,633 (+)Ensemblpanpan1.1panPan2
ARMCX5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X76,270,568 - 76,274,622 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX76,270,271 - 76,329,532 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX76,270,271 - 76,329,532 (+)NCBICanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X77,695,955 - 77,700,015 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1X75,246,068 - 75,250,128 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X76,909,226 - 76,913,286 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X76,619,227 - 76,623,287 (+)NCBIUU_Cfam_GSD_1.0
Armcx5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X62,219,684 - 62,221,868 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049368131,251,936 - 1,255,422 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARMCX5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX83,764,771 - 83,769,889 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X83,746,935 - 83,769,896 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X97,705,476 - 97,710,131 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ARMCX5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X90,581,753 - 90,586,670 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX90,584,653 - 90,586,329 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606515,419,839 - 15,424,850 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Armcx5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004625034146,260 - 147,966 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004625034146,072 - 150,412 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ARMCX5
13 total Variants

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: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: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)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:10679-156013167)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 Xq22.1(chrX:102510903-102866851)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051425]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051425]|See cases [RCV000051425] ChrX:102510903..102866851 [GRCh38]
ChrX:101773567..102121779 [GRCh37]
ChrX:101652487..102008435 [NCBI36]
ChrX:Xq22.1
uncertain significance
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 Xq22.1-22.3(chrX:102070552-108264804)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|See cases [RCV000051716] ChrX:102070552..108264804 [GRCh38]
ChrX:101325524..107508034 [GRCh37]
ChrX:101212180..107394690 [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)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 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 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 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 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 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 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 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)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 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28
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 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|uncertain significance
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 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
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 Xq21.32-23(chrX:91829757-113050225)x1 copy number loss Xq21.32q23 deletion [RCV001579312] ChrX:91829757..113050225 [GRCh37]
ChrX:Xq21.32-23
pathogenic
GRCh37/hg19 Xq22.1-22.3(chrX:101029649-106702784)x1 copy number loss Early Onset Neurological Disease Trait [RCV000993775] ChrX:101029649..106702784 [GRCh37]
ChrX:Xq22.1-22.3
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 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 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq22.1(chrX:100868897-102422345)x1 copy number loss not provided [RCV000846776] ChrX:100868897..102422345 [GRCh37]
ChrX:Xq22.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001168478.2(ARMCX5):c.1613A>G (p.Asp538Gly) single nucleotide variant Inborn genetic diseases [RCV003245856] ChrX:102603754 [GRCh38]
ChrX:101858682 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [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 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
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 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28
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 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.1-22.2(chrX:101331999-102771372) copy number loss not specified [RCV002053165] ChrX:101331999..102771372 [GRCh37]
ChrX:Xq22.1-22.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.1(chrX:99589130-102138180)x3 copy number gain not provided [RCV001834163] ChrX:99589130..102138180 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3 copy number gain not provided [RCV002291535] ChrX:76794355..119282836 [GRCh37]
ChrX:Xq21.1-24
pathogenic
GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1 copy number loss not provided [RCV002474518] ChrX:93805850..118913329 [GRCh37]
ChrX:Xq21.33-24
pathogenic
NM_001168478.2(ARMCX5):c.1156C>A (p.Pro386Thr) single nucleotide variant Inborn genetic diseases [RCV002968636] ChrX:102603297 [GRCh38]
ChrX:101858225 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001168478.2(ARMCX5):c.1538C>G (p.Thr513Ser) single nucleotide variant Inborn genetic diseases [RCV002753129] ChrX:102603679 [GRCh38]
ChrX:101858607 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001168478.2(ARMCX5):c.404G>T (p.Arg135Met) single nucleotide variant Inborn genetic diseases [RCV002981761] ChrX:102602545 [GRCh38]
ChrX:101857473 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001168478.2(ARMCX5):c.286C>T (p.Pro96Ser) single nucleotide variant Inborn genetic diseases [RCV002787640] ChrX:102602427 [GRCh38]
ChrX:101857355 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001168478.2(ARMCX5):c.405G>T (p.Arg135Ser) single nucleotide variant Inborn genetic diseases [RCV003004175] ChrX:102602546 [GRCh38]
ChrX:101857474 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001168478.2(ARMCX5):c.5T>C (p.Val2Ala) single nucleotide variant Inborn genetic diseases [RCV002645103] ChrX:102602146 [GRCh38]
ChrX:101857074 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001168478.2(ARMCX5):c.26G>A (p.Arg9Lys) single nucleotide variant Inborn genetic diseases [RCV002984425] ChrX:102602167 [GRCh38]
ChrX:101857095 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001168478.2(ARMCX5):c.802C>T (p.Pro268Ser) single nucleotide variant Inborn genetic diseases [RCV002897825] ChrX:102602943 [GRCh38]
ChrX:101857871 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001168478.2(ARMCX5):c.1619C>T (p.Ala540Val) single nucleotide variant Inborn genetic diseases [RCV002814036] ChrX:102603760 [GRCh38]
ChrX:101858688 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001168478.2(ARMCX5):c.1134C>G (p.Asp378Glu) single nucleotide variant Inborn genetic diseases [RCV002724154] ChrX:102603275 [GRCh38]
ChrX:101858203 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001168478.2(ARMCX5):c.1231C>G (p.Leu411Val) single nucleotide variant Inborn genetic diseases [RCV003210045] ChrX:102603372 [GRCh38]
ChrX:101858300 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001168478.2(ARMCX5):c.489T>G (p.Ser163Arg) single nucleotide variant Inborn genetic diseases [RCV003179096] ChrX:102602630 [GRCh38]
ChrX:101857558 [GRCh37]
ChrX:Xq22.1
uncertain significance
NM_001168478.2(ARMCX5):c.1636G>A (p.Glu546Lys) single nucleotide variant Inborn genetic diseases [RCV003381048] ChrX:102603777 [GRCh38]
ChrX:101858705 [GRCh37]
ChrX:Xq22.1
uncertain significance
GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1 copy number loss not provided [RCV003483927] ChrX:91274467..126799984 [GRCh37]
ChrX:Xq21.31-25
pathogenic
GRCh37/hg19 Xq21.33-22.3(chrX:96349060-106950847)x3 copy number gain not provided [RCV003485308] ChrX:96349060..106950847 [GRCh37]
ChrX:Xq21.33-22.3
pathogenic
GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3 copy number gain not provided [RCV003485304] ChrX:77212972..118576590 [GRCh37]
ChrX:Xq21.1-24
pathogenic
NM_001168478.2(ARMCX5):c.1149C>T (p.Ser383=) single nucleotide variant not provided [RCV003432255] ChrX:102603290 [GRCh38]
ChrX:101858218 [GRCh37]
ChrX:Xq22.1
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1828
Count of miRNA genes:690
Interacting mature miRNAs:775
Transcripts:ENST00000246174, ENST00000372742, ENST00000460026, ENST00000460793, ENST00000465548, ENST00000466616, ENST00000473968, ENST00000475738, ENST00000476910, ENST00000477663, ENST00000479502, ENST00000536530, ENST00000537008, ENST00000541409, ENST00000604957
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
A006P15  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X101,854,501 - 101,854,708UniSTSGRCh37
Build 36X101,741,157 - 101,741,364RGDNCBI36
CeleraX102,293,132 - 102,293,339RGD
Cytogenetic MapXq22.1-q22.3UniSTS
HuRefX91,519,932 - 91,520,139UniSTS
GeneMap99-GB4 RH MapX299.7UniSTS
NCBI RH MapX581.2UniSTS
A002R08  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X101,858,871 - 101,859,014UniSTSGRCh37
Build 36X101,745,527 - 101,745,670RGDNCBI36
CeleraX102,297,502 - 102,297,645RGD
Cytogenetic MapXq22.1-q22.3UniSTS
HuRefX91,524,302 - 91,524,445UniSTS
GeneMap99-GB4 RH MapX275.3UniSTS
DXS9778  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq22.1-q22.3UniSTS
GeneMap99-G3 RH MapX3229.0UniSTS


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 95 28 501 28 193 21 318 26 143 54 372 573 13 1 5 71 3 2
Low 2344 2636 1225 596 1407 444 4033 2116 3513 362 1088 1039 161 1199 2711 3
Below cutoff 326 300 6 54 77 2 6

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001168485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK023031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL537480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC058904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE296807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI765968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP230064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX352705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA396979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA558590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA684921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN991222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000246174   ⟹   ENSP00000246174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX102,599,168 - 102,604,159 (+)Ensembl
RefSeq Acc Id: ENST00000372742   ⟹   ENSP00000361827
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX102,601,137 - 102,604,153 (+)Ensembl
RefSeq Acc Id: ENST00000473968   ⟹   ENSP00000473737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX102,599,515 - 102,604,159 (+)Ensembl
RefSeq Acc Id: ENST00000477663   ⟹   ENSP00000474484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX102,599,522 - 102,604,159 (+)Ensembl
RefSeq Acc Id: ENST00000479502   ⟹   ENSP00000474470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX102,599,538 - 102,604,159 (+)Ensembl
RefSeq Acc Id: ENST00000604957   ⟹   ENSP00000474720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX102,599,520 - 102,604,159 (+)Ensembl
RefSeq Acc Id: NM_001168478   ⟹   NP_001161950
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X102,599,515 - 102,604,159 (+)NCBI
GRCh37X101,854,096 - 101,859,087 (+)RGD
CeleraX102,292,727 - 102,297,718 (+)RGD
HuRefX91,519,527 - 91,524,518 (+)RGD
CHM1_1X101,747,099 - 101,751,760 (+)NCBI
T2T-CHM13v2.0X101,044,470 - 101,049,114 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001168479   ⟹   NP_001161951
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X102,599,206 - 102,604,159 (+)NCBI
GRCh37X101,854,096 - 101,859,087 (+)RGD
CeleraX102,292,727 - 102,297,718 (+)RGD
HuRefX91,519,527 - 91,524,518 (+)RGD
CHM1_1X101,746,769 - 101,751,760 (+)NCBI
T2T-CHM13v2.0X101,044,161 - 101,049,114 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001168480   ⟹   NP_001161952
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X102,599,206 - 102,604,159 (+)NCBI
GRCh37X101,854,096 - 101,859,087 (+)RGD
CeleraX102,292,727 - 102,297,718 (+)RGD
HuRefX91,519,527 - 91,524,518 (+)RGD
CHM1_1X101,746,769 - 101,751,760 (+)NCBI
T2T-CHM13v2.0X101,044,161 - 101,049,114 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001168482   ⟹   NP_001161954
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X102,599,515 - 102,604,159 (+)NCBI
GRCh37X101,854,096 - 101,859,087 (+)RGD
CeleraX102,292,727 - 102,297,718 (+)RGD
HuRefX91,519,527 - 91,524,518 (+)RGD
CHM1_1X101,747,099 - 101,751,760 (+)NCBI
T2T-CHM13v2.0X101,044,470 - 101,049,114 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001168485   ⟹   NP_001161957
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X102,599,206 - 102,604,159 (+)NCBI
GRCh37X101,854,096 - 101,859,087 (+)RGD
CeleraX102,292,727 - 102,297,718 (+)RGD
HuRefX91,519,527 - 91,524,518 (+)RGD
CHM1_1X101,746,769 - 101,751,760 (+)NCBI
T2T-CHM13v2.0X101,044,161 - 101,049,114 (+)NCBI
Sequence:
RefSeq Acc Id: NM_022838   ⟹   NP_073749
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X102,599,515 - 102,604,159 (+)NCBI
GRCh37X101,854,096 - 101,859,087 (+)RGD
Build 36X101,740,814 - 101,745,743 (+)NCBI Archive
CeleraX102,292,727 - 102,297,718 (+)RGD
HuRefX91,519,527 - 91,524,518 (+)RGD
CHM1_1X101,747,099 - 101,751,760 (+)NCBI
T2T-CHM13v2.0X101,044,470 - 101,049,114 (+)NCBI
Sequence:
RefSeq Acc Id: NP_073749   ⟸   NM_022838
- UniProtKB: Q9BVZ3 (UniProtKB/Swiss-Prot),   Q68DB4 (UniProtKB/Swiss-Prot),   D3DX99 (UniProtKB/Swiss-Prot),   B3KU88 (UniProtKB/Swiss-Prot),   Q9H969 (UniProtKB/Swiss-Prot),   Q6P1M9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001161951   ⟸   NM_001168479
- UniProtKB: Q9BVZ3 (UniProtKB/Swiss-Prot),   Q68DB4 (UniProtKB/Swiss-Prot),   D3DX99 (UniProtKB/Swiss-Prot),   B3KU88 (UniProtKB/Swiss-Prot),   Q9H969 (UniProtKB/Swiss-Prot),   Q6P1M9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001161952   ⟸   NM_001168480
- UniProtKB: Q9BVZ3 (UniProtKB/Swiss-Prot),   Q68DB4 (UniProtKB/Swiss-Prot),   D3DX99 (UniProtKB/Swiss-Prot),   B3KU88 (UniProtKB/Swiss-Prot),   Q9H969 (UniProtKB/Swiss-Prot),   Q6P1M9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001161957   ⟸   NM_001168485
- UniProtKB: Q9BVZ3 (UniProtKB/Swiss-Prot),   Q68DB4 (UniProtKB/Swiss-Prot),   D3DX99 (UniProtKB/Swiss-Prot),   B3KU88 (UniProtKB/Swiss-Prot),   Q9H969 (UniProtKB/Swiss-Prot),   Q6P1M9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001161950   ⟸   NM_001168478
- UniProtKB: Q9BVZ3 (UniProtKB/Swiss-Prot),   Q68DB4 (UniProtKB/Swiss-Prot),   D3DX99 (UniProtKB/Swiss-Prot),   B3KU88 (UniProtKB/Swiss-Prot),   Q9H969 (UniProtKB/Swiss-Prot),   Q6P1M9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001161954   ⟸   NM_001168482
- UniProtKB: Q9BVZ3 (UniProtKB/Swiss-Prot),   Q68DB4 (UniProtKB/Swiss-Prot),   D3DX99 (UniProtKB/Swiss-Prot),   B3KU88 (UniProtKB/Swiss-Prot),   Q9H969 (UniProtKB/Swiss-Prot),   Q6P1M9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000474484   ⟸   ENST00000477663
RefSeq Acc Id: ENSP00000361827   ⟸   ENST00000372742
RefSeq Acc Id: ENSP00000474470   ⟸   ENST00000479502
RefSeq Acc Id: ENSP00000246174   ⟸   ENST00000246174
RefSeq Acc Id: ENSP00000474720   ⟸   ENST00000604957
RefSeq Acc Id: ENSP00000473737   ⟸   ENST00000473968

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6P1M9-F1-model_v2 AlphaFold Q6P1M9 1-558 view protein structure

Promoters
RGD ID:6808514
Promoter ID:HG_KWN:67558
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000246174,   NM_001168478,   NM_001168479,   NM_001168482,   NM_001168485,   OTTHUMT00000057637,   OTTHUMT00000057638,   OTTHUMT00000057641,   OTTHUMT00000057642,   OTTHUMT00000057643,   OTTHUMT00000057644,   OTTHUMT00000057645,   UC004EJH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X101,740,854 - 101,741,354 (+)MPROMDB
RGD ID:13627674
Promoter ID:EPDNEW_H29112
Type:initiation region
Name:ARMCX5_1
Description:armadillo repeat containing, X-linked 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X102,599,206 - 102,599,266EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25772 AgrOrtholog
COSMIC ARMCX5 COSMIC
Ensembl Genes ENSG00000125962 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000246174 ENTREZGENE
  ENST00000246174.6 UniProtKB/Swiss-Prot
  ENST00000372742.1 UniProtKB/Swiss-Prot
  ENST00000473968 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000473968.7 UniProtKB/Swiss-Prot
  ENST00000477663 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000477663.6 UniProtKB/Swiss-Prot
  ENST00000479502 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000479502.2 UniProtKB/Swiss-Prot
  ENST00000604957.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000125962 GTEx
HGNC ID HGNC:25772 ENTREZGENE
Human Proteome Map ARMCX5 Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot
  ARM-rpt_dom UniProtKB/Swiss-Prot
  ARM-type_fold UniProtKB/Swiss-Prot
KEGG Report hsa:64860 UniProtKB/Swiss-Prot
NCBI Gene 64860 ENTREZGENE
OMIM 301047 OMIM
PANTHER ARMADILLO REPEAT-CONTAINING X-LINKED PROTEIN 5 UniProtKB/Swiss-Prot
  PTHR47081 UniProtKB/Swiss-Prot
Pfam Arm_2 UniProtKB/Swiss-Prot
PharmGKB PA134910322 PharmGKB
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot
UniProt A0A0G2JLJ9_HUMAN UniProtKB/TrEMBL
  ARMX5_HUMAN UniProtKB/Swiss-Prot
  B3KU88 ENTREZGENE
  D3DX99 ENTREZGENE
  Q68DB4 ENTREZGENE
  Q6P1M9 ENTREZGENE
  Q9BVZ3 ENTREZGENE
  Q9H969 ENTREZGENE
  S4R3L0_HUMAN UniProtKB/TrEMBL
  S4R3L5_HUMAN UniProtKB/TrEMBL
UniProt Secondary B3KU88 UniProtKB/Swiss-Prot
  D3DX99 UniProtKB/Swiss-Prot
  Q68DB4 UniProtKB/Swiss-Prot
  Q9BVZ3 UniProtKB/Swiss-Prot
  Q9H969 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 ARMCX5  armadillo repeat containing X-linked 5    armadillo repeat containing, X-linked 5  Symbol and/or name change 5135510 APPROVED