EOLA1 (endothelium and lymphocyte associated ASCH domain 1) - Rat Genome Database

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Gene: EOLA1 (endothelium and lymphocyte associated ASCH domain 1) Homo sapiens
Analyze
Symbol: EOLA1
Name: endothelium and lymphocyte associated ASCH domain 1
RGD ID: 1344025
HGNC Page HGNC
Description: Involved in regulation of interleukin-6 production; INTERACTS WITH benzene; benzo[a]pyrene; diazinon.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: chromosome X open reading frame 40A; CXorf40; CXorf40A; endothelial-overexpressed lipopolysaccharide-associated factor 1; FLJ16423; FLJ52212
RGD Orthologs
Mouse
Chinchilla
Dog
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX149,540,355 - 149,550,510 (+)EnsemblGRCh38hg38GRCh38
GRCh38X149,540,601 - 149,555,345 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X148,622,146 - 148,636,889 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X148,430,463 - 148,436,760 (+)NCBINCBI36hg18NCBI36
Build 34X148,328,316 - 148,334,613NCBI
CeleraX148,971,238 - 148,980,804 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX137,575,573 - 137,585,411 (+)NCBIHuRef
CHM1_1X148,583,188 - 148,597,896 (+)NCBICHM1_1
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

Biological Process

Molecular Function

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:8717057   PMID:9147653   PMID:10848801   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15541360   PMID:15772651   PMID:16215939   PMID:16383041   PMID:16712791   PMID:17557240  
PMID:19490893   PMID:21223654   PMID:24916366   PMID:31007603   PMID:31569543  


Genomics

Comparative Map Data
EOLA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX149,540,355 - 149,550,510 (+)EnsemblGRCh38hg38GRCh38
GRCh38X149,540,601 - 149,555,345 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X148,622,146 - 148,636,889 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X148,430,463 - 148,436,760 (+)NCBINCBI36hg18NCBI36
Build 34X148,328,316 - 148,334,613NCBI
CeleraX148,971,238 - 148,980,804 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX137,575,573 - 137,585,411 (+)NCBIHuRef
CHM1_1X148,583,188 - 148,597,896 (+)NCBICHM1_1
Eola1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X69,429,519 - 69,433,022 (+)NCBIGRCm39mm39
GRCm39 EnsemblX69,429,483 - 69,433,023 (+)Ensembl
GRCm38X70,385,913 - 70,389,416 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX70,385,877 - 70,389,417 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X67,639,088 - 67,642,591 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X66,646,469 - 66,649,972 (+)NCBImm8
Cytogenetic MapXA7.2NCBI
Eola1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554981,911,103 - 1,916,645 (+)NCBIChiLan1.0ChiLan1.0
EOLA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X117,536,100 - 117,559,404 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X119,594,974 - 119,617,352 (+)NCBI
UMICH_Zoey_3.1X116,706,963 - 116,729,273 (+)NCBI
UNSW_CanFamBas_1.0X118,918,298 - 118,940,652 (+)NCBI
UU_Cfam_GSD_1.0X119,549,239 - 119,571,605 (-)NCBI
LOC100515119
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X121,769,595 - 121,777,428 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X139,227,098 - 139,231,267 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EOLA1
(Chlorocebus sabaeus - African green monkey)
No map positions available.

Position Markers
RH16561  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,100,534 - 149,100,802UniSTSGRCh37
GRCh37X148,628,468 - 148,628,736UniSTSGRCh37
Build 36X148,436,373 - 148,436,641RGDNCBI36
CeleraX148,977,185 - 148,977,453RGD
Cytogenetic MapXq28UniSTS
HuRefX137,581,869 - 137,582,137UniSTS
GeneMap99-GB4 RH MapX345.35UniSTS
WI-11260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,100,434 - 149,100,564UniSTSGRCh37
GRCh37X148,628,706 - 148,628,836UniSTSGRCh37
Build 36X148,436,611 - 148,436,741RGDNCBI36
CeleraX148,977,423 - 148,977,553RGD
Cytogenetic MapXq28UniSTS
HuRefX137,582,107 - 137,582,237UniSTS
GeneMap99-GB4 RH MapX345.35UniSTS
Whitehead-RH MapX314.8UniSTS
RH102336  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,099,167 - 149,099,337UniSTSGRCh37
GRCh37X148,629,923 - 148,630,093UniSTSGRCh37
Build 36X148,437,829 - 148,437,999RGDNCBI36
CeleraX148,978,641 - 148,978,811RGD
Cytogenetic MapXq28UniSTS
HuRefX137,583,326 - 137,583,496UniSTS
GeneMap99-GB4 RH MapX347.01UniSTS
RH103556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,097,890 - 149,098,036UniSTSGRCh37
GRCh37X148,631,224 - 148,631,370UniSTSGRCh37
Build 36X148,439,130 - 148,439,276RGDNCBI36
CeleraX148,979,942 - 148,980,088RGD
Cytogenetic MapXq28UniSTS
HuRefX137,585,120 - 137,585,266UniSTS
GeneMap99-GB4 RH MapX347.01UniSTS
WI-15826  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,100,439 - 149,100,564UniSTSGRCh37
GRCh37X148,628,706 - 148,628,831UniSTSGRCh37
Build 36X148,436,611 - 148,436,736RGDNCBI36
CeleraX148,977,423 - 148,977,548RGD
Cytogenetic MapXq28UniSTS
HuRefX137,582,107 - 137,582,232UniSTS
GeneMap99-GB4 RH MapX347.01UniSTS
Whitehead-RH MapX314.8UniSTS
NCBI RH MapX733.4UniSTS
G20875  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,100,510 - 149,100,686UniSTSGRCh37
GRCh37X148,628,584 - 148,628,760UniSTSGRCh37
Build 36X148,436,489 - 148,436,665RGDNCBI36
CeleraX148,977,301 - 148,977,477RGD
Cytogenetic MapXq28UniSTS
HuRefX137,581,985 - 137,582,161UniSTS
A006J30  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,100,510 - 149,100,686UniSTSGRCh37
GRCh37X148,628,584 - 148,628,760UniSTSGRCh37
Build 36X148,436,489 - 148,436,665RGDNCBI36
CeleraX148,977,301 - 148,977,477RGD
Cytogenetic MapXq28UniSTS
HuRefX137,581,985 - 137,582,161UniSTS
GeneMap99-GB4 RH MapX345.35UniSTS
NIB220  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,100,457 - 149,100,612UniSTSGRCh37
GRCh37X148,628,658 - 148,628,813UniSTSGRCh37
Build 36X148,436,563 - 148,436,718RGDNCBI36
CeleraX148,977,375 - 148,977,530RGD
Cytogenetic MapXq28UniSTS
HuRefX137,582,059 - 137,582,214UniSTS
Stanford-G3 RH MapX4302.0UniSTS
GeneMap99-G3 RH MapX4451.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4268
Count of miRNA genes:1094
Interacting mature miRNAs:1301
Transcripts:ENST00000359293, ENST00000393985, ENST00000422892, ENST00000423421, ENST00000423540, ENST00000428236, ENST00000431132, ENST00000434353, ENST00000441248, ENST00000448332, ENST00000450602, ENST00000514208
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 217 258 896 46 534 22 588 98 690 103 358 782 26 73 433 4 2
Low 2222 2729 830 578 1416 443 3768 2096 3044 315 1102 831 148 1 1131 2355 2
Below cutoff 4 1 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001171907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001171908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001171909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_178124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC016940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC233288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC244197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF011889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI088770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW517432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW952651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY074889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE047282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE265359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF115859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG105508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG831626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI819316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB156531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR984770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC339764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC426016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY183637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L43576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U66049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U66050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000359293   ⟹   ENSP00000420882
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX149,545,478 - 149,547,306 (+)Ensembl
RefSeq Acc Id: ENST00000393985   ⟹   ENSP00000421745
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX149,541,012 - 149,548,331 (+)Ensembl
RefSeq Acc Id: ENST00000422892   ⟹   ENSP00000422312
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX149,544,520 - 149,549,992 (+)Ensembl
RefSeq Acc Id: ENST00000423421   ⟹   ENSP00000422512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX149,540,975 - 149,547,309 (+)Ensembl
RefSeq Acc Id: ENST00000423540   ⟹   ENSP00000425520
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX149,540,983 - 149,547,154 (+)Ensembl
RefSeq Acc Id: ENST00000428236   ⟹   ENSP00000426158
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX149,542,019 - 149,547,309 (+)Ensembl
RefSeq Acc Id: ENST00000431132   ⟹   ENSP00000423447
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX149,540,355 - 149,545,720 (+)Ensembl
RefSeq Acc Id: ENST00000434353   ⟹   ENSP00000423160
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX149,540,987 - 149,549,940 (+)Ensembl
RefSeq Acc Id: ENST00000441248   ⟹   ENSP00000423099
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX149,540,642 - 149,547,309 (+)Ensembl
RefSeq Acc Id: ENST00000448332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX149,541,437 - 149,542,050 (+)Ensembl
RefSeq Acc Id: ENST00000450602   ⟹   ENSP00000427540
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX149,540,630 - 149,547,309 (+)Ensembl
RefSeq Acc Id: ENST00000514208   ⟹   ENSP00000423708
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX149,541,024 - 149,550,510 (+)Ensembl
RefSeq Acc Id: NM_001171907   ⟹   NP_001165378
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,541,012 - 149,548,331 (+)NCBI
GRCh37X148,622,204 - 148,632,086 (+)NCBI
CeleraX148,971,238 - 148,980,804 (+)RGD
HuRefX137,575,888 - 137,585,982 (+)NCBI
CHM1_1X148,583,532 - 148,590,889 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001171908   ⟹   NP_001165379
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,541,012 - 149,548,331 (+)NCBI
GRCh37X148,622,204 - 148,632,086 (+)NCBI
CeleraX148,971,238 - 148,980,804 (+)RGD
HuRefX137,575,888 - 137,585,982 (+)NCBI
CHM1_1X148,583,532 - 148,590,889 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001171909   ⟹   NP_001165380
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,544,520 - 149,555,345 (+)NCBI
GRCh37X148,622,204 - 148,632,086 (+)NCBI
CeleraX148,971,238 - 148,980,804 (+)RGD
HuRefX137,575,888 - 137,585,982 (+)NCBI
CHM1_1X148,587,078 - 148,597,896 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324274   ⟹   NP_001311203
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,540,601 - 149,548,331 (+)NCBI
CHM1_1X148,583,188 - 148,590,889 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324275   ⟹   NP_001311204
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,540,601 - 149,548,331 (+)NCBI
CHM1_1X148,583,188 - 148,590,889 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324276   ⟹   NP_001311205
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,541,012 - 149,555,345 (+)NCBI
CHM1_1X148,583,532 - 148,597,896 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324277   ⟹   NP_001311206
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,541,012 - 149,548,331 (+)NCBI
CHM1_1X148,583,532 - 148,590,889 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324278   ⟹   NP_001311207
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,541,012 - 149,548,331 (+)NCBI
CHM1_1X148,583,532 - 148,590,889 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324279   ⟹   NP_001311208
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,541,012 - 149,555,345 (+)NCBI
CHM1_1X148,583,532 - 148,597,896 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324280   ⟹   NP_001311209
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,541,012 - 149,548,331 (+)NCBI
CHM1_1X148,583,532 - 148,590,889 (+)NCBI
Sequence:
RefSeq Acc Id: NM_178124   ⟹   NP_835225
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,541,012 - 149,548,331 (+)NCBI
GRCh37X148,622,204 - 148,632,086 (+)NCBI
Build 36X148,430,463 - 148,436,760 (+)NCBI Archive
CeleraX148,971,238 - 148,980,804 (+)RGD
HuRefX137,575,888 - 137,585,982 (+)NCBI
CHM1_1X148,583,532 - 148,590,889 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005262349   ⟹   XP_005262406
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,544,021 - 149,547,309 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452480   ⟹   XP_024308248
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,540,977 - 149,555,345 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001165378 (Get FASTA)   NCBI Sequence Viewer  
  NP_001165379 (Get FASTA)   NCBI Sequence Viewer  
  NP_001165380 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311203 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311204 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311205 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311206 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311207 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311208 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311209 (Get FASTA)   NCBI Sequence Viewer  
  NP_835225 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262406 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308248 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH65539 (Get FASTA)   NCBI Sequence Viewer  
  AAI04931 (Get FASTA)   NCBI Sequence Viewer  
  AAI04933 (Get FASTA)   NCBI Sequence Viewer  
  AAI43661 (Get FASTA)   NCBI Sequence Viewer  
  AAI43662 (Get FASTA)   NCBI Sequence Viewer  
  AAI43663 (Get FASTA)   NCBI Sequence Viewer  
  AAL71889 (Get FASTA)   NCBI Sequence Viewer  
  BAF84588 (Get FASTA)   NCBI Sequence Viewer  
  BAH11684 (Get FASTA)   NCBI Sequence Viewer  
  BAH13262 (Get FASTA)   NCBI Sequence Viewer  
  EAW61276 (Get FASTA)   NCBI Sequence Viewer  
  EAW61277 (Get FASTA)   NCBI Sequence Viewer  
  EAW61279 (Get FASTA)   NCBI Sequence Viewer  
  Q8TE69 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_835225   ⟸   NM_178124
- Peptide Label: isoform a
- UniProtKB: Q8TE69 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001165380   ⟸   NM_001171909
- Peptide Label: isoform b
- UniProtKB: Q8TE69 (UniProtKB/Swiss-Prot),   A0A0A0MTB5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001165378   ⟸   NM_001171907
- Peptide Label: isoform a
- UniProtKB: Q8TE69 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001165379   ⟸   NM_001171908
- Peptide Label: isoform a
- UniProtKB: Q8TE69 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262406   ⟸   XM_005262349
- Peptide Label: isoform X1
- UniProtKB: Q8TE69 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001311204   ⟸   NM_001324275
- Peptide Label: isoform a
- UniProtKB: Q8TE69 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001311203   ⟸   NM_001324274
- Peptide Label: isoform a
- UniProtKB: Q8TE69 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001311205   ⟸   NM_001324276
- Peptide Label: isoform b
- UniProtKB: A0A0A0MTB5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001311208   ⟸   NM_001324279
- Peptide Label: isoform b
- UniProtKB: A0A0A0MTB5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001311209   ⟸   NM_001324280
- Peptide Label: isoform a
- UniProtKB: Q8TE69 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001311206   ⟸   NM_001324277
- Peptide Label: isoform a
- UniProtKB: Q8TE69 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001311207   ⟸   NM_001324278
- Peptide Label: isoform a
- UniProtKB: Q8TE69 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024308248   ⟸   XM_024452480
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000420882   ⟸   ENST00000359293
RefSeq Acc Id: ENSP00000422512   ⟸   ENST00000423421
RefSeq Acc Id: ENSP00000425520   ⟸   ENST00000423540
RefSeq Acc Id: ENSP00000427540   ⟸   ENST00000450602
RefSeq Acc Id: ENSP00000426158   ⟸   ENST00000428236
RefSeq Acc Id: ENSP00000423099   ⟸   ENST00000441248
RefSeq Acc Id: ENSP00000423447   ⟸   ENST00000431132
RefSeq Acc Id: ENSP00000421745   ⟸   ENST00000393985
RefSeq Acc Id: ENSP00000423160   ⟸   ENST00000434353
RefSeq Acc Id: ENSP00000423708   ⟸   ENST00000514208
RefSeq Acc Id: ENSP00000422312   ⟸   ENST00000422892

Promoters
RGD ID:6808611
Promoter ID:HG_KWN:68371
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000359293,   ENST00000393985,   NM_001171907,   NM_001171908,   NM_178124,   OTTHUMT00000058698,   OTTHUMT00000058699,   OTTHUMT00000058700,   OTTHUMT00000058702,   OTTHUMT00000058706,   UC004FDB.1,   UC004FDC.1,   UC004FDD.1,   UC004FDE.1,   UC004FDH.1,   UC010NSY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X148,429,241 - 148,431,122 (+)MPROMDB
RGD ID:13628306
Promoter ID:EPDNEW_H29428
Type:initiation region
Name:CXorf40A_2
Description:chromosome X open reading frame 40A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29429  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,540,712 - 149,540,772EPDNEW
RGD ID:13628308
Promoter ID:EPDNEW_H29429
Type:initiation region
Name:CXorf40A_1
Description:chromosome X open reading frame 40A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29428  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X149,541,012 - 149,541,072EPDNEW

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:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xq27.3-28(chrX:146896288-149621145)x1 copy number loss See cases [RCV000050631] ChrX:146896288..149621145 [GRCh38]
ChrX:145785498..148510629 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:147151996-150364798)x1 copy number loss See cases [RCV000051748] ChrX:147151996..150364798 [GRCh38]
ChrX:146041206..149283723 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:149429424-149617725)x0 copy number loss See cases [RCV000051749] ChrX:149429424..149617725 [GRCh38]
ChrX:148318877..148507209 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139230333-150628474)x1 copy number loss See cases [RCV000051733] ChrX:139230333..150628474 [GRCh38]
ChrX:138312495..149782550 [GRCh37]
ChrX:138140161..149547605 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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: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: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 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)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 Xq28(chrX:149209021-149681127)x3 copy number gain See cases [RCV000133756] ChrX:149209021..149681127 [GRCh38]
ChrX:148098221..148603548 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 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 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq28(chrX:149489477-149681127)x2 copy number gain See cases [RCV000136920] ChrX:149489477..149681127 [GRCh38]
ChrX:148378913..148603594 [NCBI36]
ChrX:Xq28
uncertain significance
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 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:149383585-149599140)x2 copy number gain See cases [RCV000140479] ChrX:149383585..149599140 [GRCh38]
ChrX:148465115..148680802 [GRCh37]
ChrX:148272846..148488601 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:149186314-149681127)x2 copy number gain See cases [RCV000141245] ChrX:149186314..149681127 [GRCh38]
ChrX:148075488..148603594 [NCBI36]
ChrX:Xq28
likely benign
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 Xq28(chrX:149176559-149746198)x2 copy number gain See cases [RCV000141986] ChrX:149176559..149746198 [GRCh38]
ChrX:148258089..148827859 [GRCh37]
ChrX:148065733..148635671 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq28(chrX:149467866-149746113)x2 copy number gain See cases [RCV000142042] ChrX:149467866..149746113 [GRCh38]
ChrX:148549397..148827774 [GRCh37]
ChrX:148357302..148635586 [NCBI36]
ChrX:Xq28
likely benign|uncertain significance
GRCh38/hg38 Xq28(chrX:149489072-149650223)x3 copy number gain See cases [RCV000142043] ChrX:149489072..149650223 [GRCh38]
ChrX:148570603..148731892 [GRCh37]
ChrX:148378508..148539697 [NCBI36]
ChrX:Xq28
likely benign|uncertain significance
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 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 Xq28(chrX:149176559-149745979)x3 copy number gain See cases [RCV000143669] ChrX:149176559..149745979 [GRCh38]
ChrX:148258089..148827640 [GRCh37]
ChrX:148065733..148635452 [NCBI36]
ChrX:Xq28
likely benign|uncertain significance
GRCh38/hg38 Xq28(chrX:149045934-149690142)x2 copy number gain See cases [RCV000143564] ChrX:149045934..149690142 [GRCh38]
ChrX:148127464..148771802 [GRCh37]
ChrX:147935169..148570601 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
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 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)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 Xq28(chrX:148555685-148713231)x2 copy number gain See cases [RCV000449428] ChrX:148555685..148713231 [GRCh37]
ChrX:Xq28
uncertain significance
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 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: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 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:148433778-148639974)x3 copy number gain See cases [RCV000447674] ChrX:148433778..148639974 [GRCh37]
ChrX:Xq28
likely benign
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 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
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 Xq28(chrX:148257168-148830292)x3 copy number gain See cases [RCV000510581] ChrX:148257168..148830292 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:148015538-148827774)x2 copy number gain See cases [RCV000510949] ChrX:148015538..148827774 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
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 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:147680249-149682911)x2 copy number gain not provided [RCV000684408] ChrX:147680249..149682911 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:148566841-148875584)x3 copy number gain not provided [RCV000684410] ChrX:148566841..148875584 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:148581602-148827774)x2 copy number gain not provided [RCV000684411] ChrX:148581602..148827774 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:148581931-148762795)x3 copy number gain not provided [RCV000753879] ChrX:148581931..148762795 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:148625417-148734633)x2 copy number gain not provided [RCV000753880] ChrX:148625417..148734633 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [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
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 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:148570607-148827859)x2 copy number gain not provided [RCV000846614] ChrX:148570607..148827859 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:148266957-148884123)x2 copy number gain not provided [RCV000847530] ChrX:148266957..148884123 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:148266957-148830292)x3 copy number gain not provided [RCV000849233] ChrX:148266957..148830292 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:139513270-149234353)x2 copy number gain not provided [RCV000846424] ChrX:139513270..149234353 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:148570603-148832908)x3 copy number gain not provided [RCV000848582] ChrX:148570603..148832908 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq28(chrX:148299875-148649433)x2 copy number gain not provided [RCV001007358] ChrX:148299875..148649433 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:148392776-148855992)x4 copy number gain not provided [RCV001007359] ChrX:148392776..148855992 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:148267375-148827859)x3 copy number gain not provided [RCV001007357] ChrX:148267375..148827859 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq28(chrX:148538098-148855992)x3 copy number gain not provided [RCV001260055] ChrX:148538098..148855992 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:148448248-148855992)x4 copy number gain not provided [RCV001260056] ChrX:148448248..148855992 [GRCh37]
ChrX:Xq28
likely benign
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:28089 AgrOrtholog
COSMIC EOLA1 COSMIC
Ensembl Genes ENSG00000197620 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000420882 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000421745 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000422312 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000422512 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000423099 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000423160 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000423447 UniProtKB/TrEMBL
  ENSP00000423708 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000425520 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000426158 UniProtKB/TrEMBL
  ENSP00000427540 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000359293 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000393985 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000422892 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000423421 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000423540 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000428236 UniProtKB/TrEMBL
  ENST00000431132 UniProtKB/TrEMBL
  ENST00000434353 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000441248 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000450602 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000514208 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000197620 GTEx
HGNC ID HGNC:28089 ENTREZGENE
Human Proteome Map EOLA1 Human Proteome Map
InterPro ASCH_domain UniProtKB/Swiss-Prot
  CXorf40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PUA-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:91966 UniProtKB/Swiss-Prot
NCBI Gene 91966 ENTREZGENE
OMIM 300954 OMIM
PANTHER PTHR31666 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134915038 PharmGKB
SMART ASCH UniProtKB/Swiss-Prot
Superfamily-SCOP SSF88697 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MTB5 ENTREZGENE
  CX04A_HUMAN UniProtKB/Swiss-Prot
  D6RA30_HUMAN UniProtKB/TrEMBL
  D6RH26_HUMAN UniProtKB/TrEMBL
  Q8TE69 ENTREZGENE
UniProt Secondary A0A0A0MTB5 UniProtKB/Swiss-Prot
  A8K784 UniProtKB/Swiss-Prot
  B7Z6H6 UniProtKB/Swiss-Prot
  B7ZL96 UniProtKB/Swiss-Prot
  D6RA72 UniProtKB/Swiss-Prot
  E7ENU3 UniProtKB/Swiss-Prot
  Q2M3E9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-11-05 EOLA1  endothelium and lymphocyte associated ASCH domain 1  CXorf40A  chromosome X open reading frame 40A  Symbol and/or name change 5135510 APPROVED