EDA2R (ectodysplasin A2 receptor) - Rat Genome Database

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Gene: EDA2R (ectodysplasin A2 receptor) Homo sapiens
Analyze
Symbol: EDA2R
Name: ectodysplasin A2 receptor
RGD ID: 1344270
HGNC Page HGNC
Description: Exhibits signaling receptor activity. Involved in positive regulation of JNK cascade and positive regulation of NF-kappaB transcription factor activity. Predicted to localize to plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ectodysplasin A2 isoform receptor; EDA-A2 receptor; EDA-A2R; EDAA2R; TNFRSF27; tumor necrosis factor receptor superfamily member 27; tumor necrosis factor receptor superfamily member XEDAR; X-linked ectodysplasin-A2 receptor; XEDAR
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX66,595,637 - 66,639,298 (-)EnsemblGRCh38hg38GRCh38
GRCh38X66,594,384 - 66,639,303 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X65,815,479 - 65,859,111 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X65,732,204 - 65,752,598 (-)NCBINCBI36hg18NCBI36
Build 34X65,598,503 - 65,618,894NCBI
CeleraX66,163,047 - 66,183,441 (-)NCBI
Cytogenetic MapXq12NCBI
HuRefX59,642,932 - 59,686,455 (-)NCBIHuRef
CHM1_1X65,708,158 - 65,751,820 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

Additional References at PubMed
PMID:11039935   PMID:12060722   PMID:12270937   PMID:12477932   PMID:12975309   PMID:15280356   PMID:15342556   PMID:15489334   PMID:16344560   PMID:16423472   PMID:17207965   PMID:18385763  
PMID:19373488   PMID:19490893   PMID:19543321   PMID:19590514   PMID:20199557   PMID:20360068   PMID:20501644   PMID:21724072   PMID:21873635   PMID:21988832   PMID:22032556   PMID:22309448  
PMID:23959643   PMID:26186194   PMID:26260321   PMID:26659383   PMID:27060448   PMID:27144394   PMID:28514442   PMID:29708036   PMID:31607478   PMID:31829409   PMID:32296183   PMID:32304771  
PMID:32736705  


Genomics

Comparative Map Data
EDA2R
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX66,595,637 - 66,639,298 (-)EnsemblGRCh38hg38GRCh38
GRCh38X66,594,384 - 66,639,303 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X65,815,479 - 65,859,111 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X65,732,204 - 65,752,598 (-)NCBINCBI36hg18NCBI36
Build 34X65,598,503 - 65,618,894NCBI
CeleraX66,163,047 - 66,183,441 (-)NCBI
Cytogenetic MapXq12NCBI
HuRefX59,642,932 - 59,686,455 (-)NCBIHuRef
CHM1_1X65,708,158 - 65,751,820 (-)NCBICHM1_1
Eda2r
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X96,377,447 - 96,420,815 (-)NCBIGRCm39mm39
GRCm39 EnsemblX96,377,446 - 96,420,822 (-)Ensembl
GRCm38X97,333,837 - 97,377,234 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX97,333,840 - 97,377,216 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X94,529,180 - 94,572,548 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X93,538,638 - 93,579,891 (-)NCBImm8
CeleraX84,324,759 - 84,367,800 (-)NCBICelera
Cytogenetic MapXC3NCBI
Eda2r
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X62,224,763 - 62,269,344 (-)NCBI
Rnor_6.0 EnsemblX66,561,286 - 66,602,506 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X66,560,200 - 66,602,509 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X67,389,639 - 67,430,026 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X85,010,195 - 85,049,670 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX62,627,786 - 62,667,518 (-)NCBICelera
Cytogenetic MapXq22NCBI
Eda2r
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554756,087,687 - 6,143,432 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554756,080,153 - 6,143,339 (-)NCBIChiLan1.0ChiLan1.0
EDA2R
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X65,851,559 - 65,894,775 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX65,850,306 - 65,894,975 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X55,786,361 - 55,830,798 (-)NCBIMhudiblu_PPA_v0panPan3
Eda2r
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X50,538,211 - 50,572,294 (+)NCBI
SpeTri2.0NW_0049366351,303,855 - 1,335,766 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EDA2R
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X52,522,231 - 52,533,080 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
EDA2R
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X56,527,838 - 56,574,646 (-)NCBI
ChlSab1.1 EnsemblX56,531,860 - 56,574,448 (-)Ensembl
Vero_WHO_p1.0NW_0236660833,894,520 - 3,942,652 (-)NCBI
Eda2r
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624898643,941 - 679,421 (+)NCBI

Position Markers
DXS7054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X65,835,562 - 65,835,713UniSTSGRCh37
Build 36X65,752,287 - 65,752,438RGDNCBI36
CeleraX66,183,130 - 66,183,281RGD
Cytogenetic MapXq12UniSTS
HuRefX59,662,817 - 59,662,968UniSTS
Whitehead-RH MapX143.3UniSTS
G64108  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X65,832,723 - 65,832,933UniSTSGRCh37
Build 36X65,749,448 - 65,749,658RGDNCBI36
CeleraX66,180,291 - 66,180,501RGD
Cytogenetic MapXq12UniSTS
HuRefX59,659,978 - 59,660,188UniSTS
SHGC-148317  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X65,819,849 - 65,820,150UniSTSGRCh37
Build 36X65,736,574 - 65,736,875RGDNCBI36
CeleraX66,167,417 - 66,167,718RGD
Cytogenetic MapXq12UniSTS
HuRefX59,647,339 - 59,647,640UniSTS
TNG Radiation Hybrid MapX14704.0UniSTS
EDA2R  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X65,824,298 - 65,825,063UniSTSGRCh37
CeleraX66,171,866 - 66,172,631UniSTS
HuRefX59,651,527 - 59,652,292UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2615
Count of miRNA genes:843
Interacting mature miRNAs:984
Transcripts:ENST00000253392, ENST00000374719, ENST00000396050, ENST00000450752, ENST00000451436, ENST00000456230
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.


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
High
Medium 58 500 422 10 404 9 441 93 160 99 388 377 3 53 221 2
Low 2127 1610 1012 333 597 172 3636 1761 2287 281 967 1069 161 1097 2335 3
Below cutoff 177 793 265 257 768 258 266 320 1254 33 61 66 2 1 54 231

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF298812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY152724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP249106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA215848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA574050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC368837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000253392   ⟹   ENSP00000253392
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX66,599,484 - 66,616,020 (-)Ensembl
RefSeq Acc Id: ENST00000374719   ⟹   ENSP00000363851
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX66,595,637 - 66,639,078 (-)Ensembl
RefSeq Acc Id: ENST00000396050   ⟹   ENSP00000379365
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX66,595,642 - 66,616,030 (-)Ensembl
RefSeq Acc Id: ENST00000451436   ⟹   ENSP00000415242
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX66,595,642 - 66,639,298 (-)Ensembl
RefSeq Acc Id: NM_001199687   ⟹   NP_001186616
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,595,637 - 66,639,269 (-)NCBI
GRCh37X65,815,479 - 65,859,140 (-)ENTREZGENE
HuRefX59,642,932 - 59,686,455 (-)ENTREZGENE
CHM1_1X65,708,158 - 65,751,820 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001242310   ⟹   NP_001229239
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,595,637 - 66,616,030 (-)NCBI
GRCh37X65,815,479 - 65,859,140 (-)ENTREZGENE
HuRefX59,642,932 - 59,686,455 (-)ENTREZGENE
CHM1_1X65,708,158 - 65,728,552 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001324199   ⟹   NP_001311128
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,595,637 - 66,639,078 (-)NCBI
CHM1_1X65,708,158 - 65,751,617 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001324201   ⟹   NP_001311130
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,595,637 - 66,639,269 (-)NCBI
CHM1_1X65,708,158 - 65,751,820 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001324202   ⟹   NP_001311131
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,595,637 - 66,639,269 (-)NCBI
CHM1_1X65,708,158 - 65,751,820 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001324204   ⟹   NP_001311133
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,595,637 - 66,639,078 (-)NCBI
CHM1_1X65,708,158 - 65,751,617 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001324205   ⟹   NP_001311134
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,595,637 - 66,639,078 (-)NCBI
CHM1_1X65,708,158 - 65,751,617 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001324206   ⟹   NP_001311135
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,595,637 - 66,639,078 (-)NCBI
CHM1_1X65,708,158 - 65,751,617 (-)NCBI
Sequence:
RefSeq Acc Id: NM_021783   ⟹   NP_068555
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,595,637 - 66,639,078 (-)NCBI
GRCh37X65,815,479 - 65,859,140 (-)ENTREZGENE
Build 36X65,732,204 - 65,752,598 (-)NCBI Archive
CeleraX66,163,047 - 66,183,441 (-)RGD
HuRefX59,642,932 - 59,686,455 (-)ENTREZGENE
CHM1_1X65,708,158 - 65,751,617 (-)NCBI
Sequence:
RefSeq Acc Id: NR_136726
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,595,637 - 66,639,269 (-)NCBI
CHM1_1X65,708,158 - 65,751,820 (-)NCBI
Sequence:
RefSeq Acc Id: NR_136727
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,595,637 - 66,639,078 (-)NCBI
CHM1_1X65,708,158 - 65,751,617 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531000   ⟹   XP_011529302
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,594,384 - 66,639,044 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531001   ⟹   XP_011529303
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,594,384 - 66,639,298 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531002   ⟹   XP_011529304
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,594,384 - 66,639,044 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531003   ⟹   XP_011529305
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,594,384 - 66,639,084 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531004   ⟹   XP_011529306
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,599,773 - 66,639,044 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531005   ⟹   XP_011529307
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,594,384 - 66,639,303 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531006   ⟹   XP_011529308
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,594,384 - 66,639,084 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531007   ⟹   XP_011529309
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,599,773 - 66,639,084 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029703   ⟹   XP_016885192
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,594,384 - 66,639,084 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029704   ⟹   XP_016885193
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,594,384 - 66,639,044 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029705   ⟹   XP_016885194
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,594,384 - 66,639,084 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029706   ⟹   XP_016885195
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,594,384 - 66,639,044 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029707   ⟹   XP_016885196
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,594,384 - 66,639,084 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029708   ⟹   XP_016885197
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,594,384 - 66,639,084 (-)NCBI
Sequence:
RefSeq Acc Id: XR_938405
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,597,956 - 66,639,084 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001186616 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229239 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311128 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311130 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311131 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311133 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311134 (Get FASTA)   NCBI Sequence Viewer  
  NP_001311135 (Get FASTA)   NCBI Sequence Viewer  
  NP_068555 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529302 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529303 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529304 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529305 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529306 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529307 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529308 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529309 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885192 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885193 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885194 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885195 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885196 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885197 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG28761 (Get FASTA)   NCBI Sequence Viewer  
  AAH34919 (Get FASTA)   NCBI Sequence Viewer  
  AAN73210 (Get FASTA)   NCBI Sequence Viewer  
  AAQ89952 (Get FASTA)   NCBI Sequence Viewer  
  AAQ89953 (Get FASTA)   NCBI Sequence Viewer  
  BAG37396 (Get FASTA)   NCBI Sequence Viewer  
  BAG58977 (Get FASTA)   NCBI Sequence Viewer  
  BAG61098 (Get FASTA)   NCBI Sequence Viewer  
  EAX05382 (Get FASTA)   NCBI Sequence Viewer  
  Q9HAV5 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_068555   ⟸   NM_021783
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: NP_001186616   ⟸   NM_001199687
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: NP_001229239   ⟸   NM_001242310
- Peptide Label: isoform 2
- UniProtKB: Q9HAV5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529303   ⟸   XM_011531001
- Peptide Label: isoform X1
- UniProtKB: Q9HAV5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529307   ⟸   XM_011531005
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_011529305   ⟸   XM_011531003
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011529308   ⟸   XM_011531006
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_011529304   ⟸   XM_011531002
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011529302   ⟸   XM_011531000
- Peptide Label: isoform X1
- UniProtKB: Q9HAV5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529309   ⟸   XM_011531007
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_011529306   ⟸   XM_011531004
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: NP_001311131   ⟸   NM_001324202
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001311130   ⟸   NM_001324201
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001311128   ⟸   NM_001324199
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001311134   ⟸   NM_001324205
- Peptide Label: isoform 7
- Sequence:
RefSeq Acc Id: NP_001311133   ⟸   NM_001324204
- Peptide Label: isoform 6
- Sequence:
RefSeq Acc Id: NP_001311135   ⟸   NM_001324206
- Peptide Label: isoform 8
- Sequence:
RefSeq Acc Id: XP_016885197   ⟸   XM_017029708
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_016885196   ⟸   XM_017029707
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016885194   ⟸   XM_017029705
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016885192   ⟸   XM_017029703
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016885195   ⟸   XM_017029706
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016885193   ⟸   XM_017029704
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000253392   ⟸   ENST00000253392
RefSeq Acc Id: ENSP00000415242   ⟸   ENST00000451436
RefSeq Acc Id: ENSP00000363851   ⟸   ENST00000374719
RefSeq Acc Id: ENSP00000379365   ⟸   ENST00000396050
Protein Domains
TNFR-Cys

Promoters
RGD ID:13627331
Promoter ID:EPDNEW_H28942
Type:initiation region
Name:EDA2R_1
Description:ectodysplasin A2 receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28943  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,639,074 - 66,639,134EPDNEW
RGD ID:13627335
Promoter ID:EPDNEW_H28943
Type:initiation region
Name:EDA2R_2
Description:ectodysplasin A2 receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28942  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,639,266 - 66,639,326EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_021783.5(EDA2R):c.253del (p.Asp85fs) deletion Hypohidrotic X-linked ectodermal dysplasia [RCV000032791] ChrX:66605061 [GRCh38]
ChrX:65824903 [GRCh37]
ChrX:Xq12
uncertain 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
NM_021783.5(EDA2R):c.329A>C (p.Gln110Pro) single nucleotide variant not provided [RCV000521026] ChrX:66604444 [GRCh38]
ChrX:65824286 [GRCh37]
ChrX:Xq12
uncertain significance
NM_021783.3(EDA2R):c.-11+6480T>G single nucleotide variant Lung cancer [RCV000102723] ChrX:66632515 [GRCh38]
ChrX:65852357 [GRCh37]
ChrX:Xq12
uncertain significance
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 Xq12(chrX:66518184-66805174)x1 copy number loss See cases [RCV000051386] ChrX:66518184..66805174 [GRCh38]
ChrX:65738026..66025016 [GRCh37]
ChrX:65654751..65941741 [NCBI36]
ChrX:Xq12
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 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 Xq11.1-13.1(chrX:62712219-71136309)x2 copy number gain See cases [RCV000052415] ChrX:62712219..71136309 [GRCh38]
ChrX:61931689..70356159 [GRCh37]
ChrX:61848414..70272884 [NCBI36]
ChrX:Xq11.1-13.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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: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-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
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 Xq12(chrX:66548368-66732217)x2 copy number gain See cases [RCV000054196] ChrX:66548368..66732217 [GRCh38]
ChrX:65768210..65952059 [GRCh37]
ChrX:65684935..65868784 [NCBI36]
ChrX:Xq12
uncertain significance
GRCh38/hg38 Xq12(chrX:66548368-66707636)x3 copy number gain See cases [RCV000054197] ChrX:66548368..66707636 [GRCh38]
ChrX:65768210..65927478 [GRCh37]
ChrX:65684935..65844203 [NCBI36]
ChrX:Xq12
uncertain significance
GRCh38/hg38 Xq12(chrX:66548368-66706421)x3 copy number gain See cases [RCV000054198] ChrX:66548368..66706421 [GRCh38]
ChrX:65768210..65926263 [GRCh37]
ChrX:65684935..65842988 [NCBI36]
ChrX:Xq12
uncertain significance
NM_021783.3(EDA2R):c.749G>A (p.Ser250Asn) single nucleotide variant Malignant melanoma [RCV000073239] ChrX:66599629 [GRCh38]
ChrX:65819471 [GRCh37]
ChrX:65736196 [NCBI36]
ChrX:Xq12
not provided
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 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 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1
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 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 Xq12(chrX:66408361-66950527)x3 copy number gain See cases [RCV000134941] ChrX:66408361..66950527 [GRCh38]
ChrX:65628203..66170369 [GRCh37]
ChrX:65544928..66087094 [NCBI36]
ChrX:Xq12
likely benign
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 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 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 Xq12(chrX:66595648-66675114)x2 copy number gain See cases [RCV000137024] ChrX:66595648..66675114 [GRCh38]
ChrX:65815490..65894956 [GRCh37]
ChrX:65732215..65811681 [NCBI36]
ChrX:Xq12
uncertain significance
GRCh38/hg38 Xq12(chrX:66595648-66675173)x2 copy number gain See cases [RCV000136862] ChrX:66595648..66675173 [GRCh38]
ChrX:65815490..65895015 [GRCh37]
ChrX:65732215..65811740 [NCBI36]
ChrX:Xq12
benign
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xq12(chrX:66077618-67113715)x3 copy number gain See cases [RCV000138066] ChrX:66077618..67113715 [GRCh38]
ChrX:65297460..66333557 [GRCh37]
ChrX:65214185..66250282 [NCBI36]
ChrX:Xq12
uncertain significance
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 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 Xq12(chrX:66408361-66746816)x1 copy number loss See cases [RCV000139455] ChrX:66408361..66746816 [GRCh38]
ChrX:65628203..65966658 [GRCh37]
ChrX:65544928..65883383 [NCBI36]
ChrX:Xq12
uncertain significance
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 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-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xq12(chrX:66548368-66716830)x3 copy number gain See cases [RCV000140557] ChrX:66548368..66716830 [GRCh38]
ChrX:65768210..65936672 [GRCh37]
ChrX:65684935..65853397 [NCBI36]
ChrX:Xq12
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 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 Xq12(chrX:65901792-66733457)x2 copy number gain See cases [RCV000141544] ChrX:65901792..66733457 [GRCh38]
ChrX:65121634..65953299 [GRCh37]
ChrX:65038359..65870024 [NCBI36]
ChrX:Xq12
uncertain significance
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 Xq12-21.1(chrX:66445907-78172208)x3 copy number gain See cases [RCV000142336] ChrX:66445907..78172208 [GRCh38]
ChrX:65665749..77427705 [GRCh37]
ChrX:65582474..77314361 [NCBI36]
ChrX:Xq12-21.1
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 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 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3
pathogenic
GRCh38/hg38 Xq12(chrX:66069949-67124285)x2 copy number gain See cases [RCV000143736] ChrX:66069949..67124285 [GRCh38]
ChrX:65289791..66344127 [GRCh37]
ChrX:65206516..66260852 [NCBI36]
ChrX:Xq12
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 Xq12-13.1(chrX:64927267-69276852)x3 copy number gain See cases [RCV000239973] ChrX:64927267..69276852 [GRCh37]
ChrX:Xq12-13.1
uncertain significance
GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2 copy number gain See cases [RCV000239889] ChrX:53085607..67176333 [GRCh37]
ChrX:Xp11.22-q12
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 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
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:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq12(chrX:65813415-65987187)x0 copy number loss See cases [RCV000240470] ChrX:65813415..65987187 [GRCh37]
ChrX:Xq12
uncertain significance
GRCh37/hg19 Xq12(chrX:65813415-66955639)x2 copy number gain See cases [RCV000240497] ChrX:65813415..66955639 [GRCh37]
ChrX:Xq12
uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 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 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 Xq12(chrX:65057519-66020568)x3 copy number gain See cases [RCV000447036] ChrX:65057519..66020568 [GRCh37]
ChrX:Xq12
uncertain significance
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 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 Xq12(chrX:65590188-66268526)x3 copy number gain See cases [RCV000510430] ChrX:65590188..66268526 [GRCh37]
ChrX:Xq12
uncertain significance
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 Xq12(chrX:65699710-66037575)x1 copy number loss See cases [RCV000510291] ChrX:65699710..66037575 [GRCh37]
ChrX:Xq12
uncertain significance
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 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
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 Xq12(chrX:65652308-66075182)x1 copy number loss See cases [RCV000511938] ChrX:65652308..66075182 [GRCh37]
ChrX:Xq12
uncertain significance
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 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 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
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
Single allele duplication not provided [RCV000677981] ChrX:65813415..66955639 [GRCh37]
ChrX:Xq12
uncertain significance
GRCh37/hg19 Xq12(chrX:65461088-66523361)x2 copy number gain not provided [RCV000684340] ChrX:65461088..66523361 [GRCh37]
ChrX:Xq12
likely benign
GRCh37/hg19 Xq12(chrX:65742087-65952960)x3 copy number gain not provided [RCV000684341] ChrX:65742087..65952960 [GRCh37]
ChrX:Xq12
uncertain significance
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
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 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
NM_021783.5(EDA2R):c.334C>T (p.Pro112Ser) single nucleotide variant not provided [RCV000891794] ChrX:66604439 [GRCh38]
ChrX:65824281 [GRCh37]
ChrX:Xq12
likely benign
NM_021783.5(EDA2R):c.726G>A (p.Glu242=) single nucleotide variant not provided [RCV000929485] ChrX:66599652 [GRCh38]
ChrX:65819494 [GRCh37]
ChrX:Xq12
benign
NM_021783.5(EDA2R):c.22T>C (p.Tyr8His) single nucleotide variant not provided [RCV000948158] ChrX:66615999 [GRCh38]
ChrX:65835841 [GRCh37]
ChrX:Xq12
benign
NM_021783.5(EDA2R):c.385= (p.Thr129=) variation not provided [RCV000949116] ChrX:66602765 [GRCh38]
ChrX:65822607 [GRCh37]
ChrX:Xq12
benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_021783.5(EDA2R):c.135T>A (p.Pro45=) single nucleotide variant not provided [RCV000880570] ChrX:66605179 [GRCh38]
ChrX:65825021 [GRCh37]
ChrX:Xq12
likely benign
NM_021783.5(EDA2R):c.660C>T (p.Asp220=) single nucleotide variant not provided [RCV000897855] ChrX:66599718 [GRCh38]
ChrX:65819560 [GRCh37]
ChrX:Xq12
likely benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq11.1-13.1(chrX:61882086-69173640)x1 copy number loss not provided [RCV000849932] ChrX:61882086..69173640 [GRCh37]
ChrX:Xq11.1-13.1
pathogenic
GRCh37/hg19 Xq12(chrX:65597135-65836640)x1 copy number loss not provided [RCV000850032] ChrX:65597135..65836640 [GRCh37]
ChrX:Xq12
uncertain significance
GRCh37/hg19 Xq12(chrX:65605983-65853863)x1 copy number loss not provided [RCV000848519] ChrX:65605983..65853863 [GRCh37]
ChrX:Xq12
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq12(chrX:65768300-65937194)x3 copy number gain not provided [RCV000846595] ChrX:65768300..65937194 [GRCh37]
ChrX:Xq12
uncertain significance
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
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 Xq12(chrX:65695229-66037575)x1 copy number loss not provided [RCV000845594] ChrX:65695229..66037575 [GRCh37]
ChrX:Xq12
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 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq12(chrX:65766523-65931826)x2 copy number gain not provided [RCV000845628] ChrX:65766523..65931826 [GRCh37]
ChrX:Xq12
uncertain significance
NM_021783.5(EDA2R):c.378G>A (p.Glu126=) single nucleotide variant not provided [RCV000909305] ChrX:66602772 [GRCh38]
ChrX:65822614 [GRCh37]
ChrX:Xq12
likely benign
NM_021783.5(EDA2R):c.79C>T (p.Leu27=) single nucleotide variant not provided [RCV000958321] ChrX:66615942 [GRCh38]
ChrX:65835784 [GRCh37]
ChrX:Xq12
benign
GRCh37/hg19 Xq12(chrX:65734663-66698653)x3 copy number gain not provided [RCV001258999] ChrX:65734663..66698653 [GRCh37]
ChrX:Xq12
likely benign
GRCh37/hg19 Xq12(chrX:65255929-65894285)x3 copy number gain not provided [RCV001259000] ChrX:65255929..65894285 [GRCh37]
ChrX:Xq12
likely benign
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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17756 AgrOrtholog
COSMIC EDA2R COSMIC
Ensembl Genes ENSG00000131080 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000253392 UniProtKB/Swiss-Prot
  ENSP00000363851 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379365 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000415242 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000253392 UniProtKB/Swiss-Prot
  ENST00000374719 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000396050 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000451436 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000131080 GTEx
HGNC ID HGNC:17756 ENTREZGENE
Human Proteome Map EDA2R Human Proteome Map
InterPro TNFR/NGFR_Cys_rich_reg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNFR_27 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNFRSF27_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:60401 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 60401 ENTREZGENE
OMIM 300276 OMIM
PANTHER PTHR12120:SF8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TNFR_c6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134974675 PharmGKB
PRINTS TNFACTORR27 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TNFR_NGFR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNFR_NGFR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TNFR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RBZ9_HUMAN UniProtKB/TrEMBL
  B4DQY6_HUMAN UniProtKB/TrEMBL
  Q9HAV5 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q5VYX9 UniProtKB/Swiss-Prot
  Q5VYY0 UniProtKB/Swiss-Prot
  Q6UWM2 UniProtKB/Swiss-Prot
  Q8IZA6 UniProtKB/Swiss-Prot