IL1RAPL2 (interleukin 1 receptor accessory protein like 2) - Rat Genome Database

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Gene: IL1RAPL2 (interleukin 1 receptor accessory protein like 2) Homo sapiens
Analyze
Symbol: IL1RAPL2
Name: interleukin 1 receptor accessory protein like 2
RGD ID: 1349606
HGNC Page HGNC
Description: Predicted to have interleukin-1 receptor activity. Involved in regulation of presynapse assembly. Localizes to glutamatergic synapse.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: IL-1 receptor accessory protein-like 2; IL-1-RAPL-2; IL-1R-9; IL-1R9; IL-1RAPL-2; IL1R9; IL1RAPL-2; IL1RAPL-2-related protein; interleukin 1 receptor 9; interleukin 1 receptor accessory protein-like 2; interleukin-1 receptor 9; three immunoglobulin domain-containing IL-1 receptor-related 1; TIGIRR-1; X-linked interleukin-1 receptor accessory protein-like 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX104,566,199 - 105,767,829 (+)EnsemblGRCh38hg38GRCh38
GRCh38X104,566,199 - 105,769,729 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X103,810,880 - 105,011,822 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X103,697,652 - 104,898,478 (+)NCBINCBI36hg18NCBI36
Build 34X103,617,140 - 104,817,967NCBI
CeleraX104,285,598 - 105,486,376 (+)NCBI
Cytogenetic MapXq22.3NCBI
HuRefX93,435,071 - 94,637,503 (+)NCBIHuRef
CHM1_1X103,721,823 - 104,923,126 (+)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

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:7959766   PMID:10757639   PMID:10882729   PMID:11031108   PMID:11587848   PMID:12477932   PMID:16596202   PMID:17265504   PMID:20237496   PMID:21384559   PMID:21926414   PMID:28065597  
PMID:30021884  


Genomics

Comparative Map Data
IL1RAPL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX104,566,199 - 105,767,829 (+)EnsemblGRCh38hg38GRCh38
GRCh38X104,566,199 - 105,769,729 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X103,810,880 - 105,011,822 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X103,697,652 - 104,898,478 (+)NCBINCBI36hg18NCBI36
Build 34X103,617,140 - 104,817,967NCBI
CeleraX104,285,598 - 105,486,376 (+)NCBI
Cytogenetic MapXq22.3NCBI
HuRefX93,435,071 - 94,637,503 (+)NCBIHuRef
CHM1_1X103,721,823 - 104,923,126 (+)NCBICHM1_1
Il1rapl2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X136,471,503 - 137,749,826 (+)NCBIGRCm39mm39
GRCm39 EnsemblX136,471,357 - 137,747,695 (+)Ensembl
GRCm38X137,570,754 - 138,849,077 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX137,570,608 - 138,846,946 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X134,106,088 - 135,381,494 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X132,917,913 - 134,193,319 (+)NCBImm8
CeleraX120,847,137 - 122,116,600 (+)NCBICelera
Cytogenetic MapXF1NCBI
Il1rapl2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X100,961,509 - 102,271,753 (+)NCBI
Rnor_6.0 EnsemblX108,287,068 - 109,851,047 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X108,287,034 - 109,851,075 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X108,150,787 - 108,254,866 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0X108,785,045 - 109,131,750 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0X109,679,033 - 109,708,181 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X125,013,154 - 126,352,850 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX101,764,259 - 103,062,805 (+)NCBICelera
Cytogenetic MapXq32NCBI
Il1rapl2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555481,518,695 - 2,623,232 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555481,462,746 - 2,623,622 (+)NCBIChiLan1.0ChiLan1.0
IL1RAPL2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X104,068,596 - 105,283,662 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX104,161,023 - 105,283,494 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X93,689,575 - 94,904,887 (+)NCBIMhudiblu_PPA_v0panPan3
IL1RAPL2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X77,918,264 - 78,959,932 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX64,099,554 - 65,432,679 (+)NCBI
ROS_Cfam_1.0X79,587,004 - 80,920,111 (+)NCBI
UMICH_Zoey_3.1X77,071,569 - 78,402,563 (+)NCBI
UNSW_CanFamBas_1.0X78,775,315 - 80,098,087 (+)NCBI
UU_Cfam_GSD_1.0X79,222,860 - 79,875,803 (+)NCBI
Il1rapl2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X77,812,504 - 78,870,601 (+)NCBI
SpeTri2.0NW_0049364998,788,093 - 9,048,583 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IL1RAPL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX85,428,324 - 86,466,780 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X85,347,867 - 86,464,670 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X100,533,436 - 100,826,715 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103232439
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X92,433,337 - 93,646,131 (+)NCBI
Il1rapl2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462480310,917,671 - 12,315,002 (-)NCBI

Position Markers
DXS8075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X103,870,959 - 103,871,129UniSTSGRCh37
Build 36X103,757,615 - 103,757,785RGDNCBI36
CeleraX104,345,565 - 104,345,735RGD
Cytogenetic MapXq22UniSTS
HuRefX93,494,976 - 93,495,146UniSTS
Marshfield Genetic MapX66.58RGD
Marshfield Genetic MapX66.58UniSTS
Genethon Genetic MapX117.2UniSTS
deCODE Assembly MapX104.07UniSTS
Whitehead-YAC Contig MapX UniSTS
DXS8112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X104,909,311 - 104,909,399UniSTSGRCh37
Build 36X104,795,967 - 104,796,055RGDNCBI36
CeleraX105,383,869 - 105,383,957RGD
Cytogenetic MapXq22UniSTS
HuRefX94,535,222 - 94,535,314UniSTS
Marshfield Genetic MapX66.58UniSTS
Marshfield Genetic MapX66.58RGD
Genethon Genetic MapX117.6UniSTS
TNG Radiation Hybrid MapX23114.0UniSTS
deCODE Assembly MapX104.07UniSTS
Stanford-G3 RH MapX3160.0UniSTS
Whitehead-YAC Contig MapX UniSTS
GeneMap99-G3 RH MapX3181.0UniSTS
DXS7627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X104,650,980 - 104,651,064UniSTSGRCh37
GRCh37937,477,577 - 37,477,661UniSTSGRCh37
Build 36X104,537,636 - 104,537,720RGDNCBI36
CeleraX105,125,559 - 105,125,643RGD
Celera937,410,811 - 37,410,895UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic MapXq22UniSTS
HuRefX94,276,284 - 94,276,368UniSTS
HuRef937,429,626 - 37,429,710UniSTS
AF020135  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X103,933,612 - 103,933,680UniSTSGRCh37
Build 36X103,820,268 - 103,820,336RGDNCBI36
CeleraX104,408,223 - 104,408,291RGD
Cytogenetic MapXq22UniSTS
HuRefX93,557,955 - 93,558,023UniSTS
RH63727  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37695,614,113 - 95,614,213UniSTSGRCh37
GRCh37X104,903,979 - 104,904,078UniSTSGRCh37
Build 36X104,790,635 - 104,790,734RGDNCBI36
CeleraX105,378,537 - 105,378,636RGD
Celera696,038,016 - 96,038,116UniSTS
Cytogenetic MapXq22UniSTS
HuRefX94,529,928 - 94,530,027UniSTS
HuRef692,836,048 - 92,836,148UniSTS
GeneMap99-GB4 RH Map6428.81UniSTS
WI-15651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X104,079,923 - 104,080,047UniSTSGRCh37
Build 36X103,966,579 - 103,966,703RGDNCBI36
CeleraX104,554,462 - 104,554,586RGD
Cytogenetic MapXq22UniSTS
HuRefX93,703,701 - 93,703,825UniSTS
GeneMap99-GB4 RH MapX280.15UniSTS
Whitehead-RH MapX271.2UniSTS
DXS7523  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X104,371,511 - 104,371,662UniSTSGRCh37
Build 36X104,258,167 - 104,258,318RGDNCBI36
CeleraX104,846,103 - 104,846,254RGD
Cytogenetic MapXq22UniSTS
HuRefX93,998,845 - 93,998,996UniSTS
Whitehead-RH MapX271.1UniSTS
Whitehead-YAC Contig MapX UniSTS
RH66133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37831,076,016 - 31,076,131UniSTSGRCh37
GRCh37825,285,857 - 25,285,972UniSTSGRCh37
Build 36825,341,774 - 25,341,889RGDNCBI36
Celera824,246,734 - 24,246,849RGD
Celera830,034,692 - 30,034,807UniSTS
Cytogenetic MapXq22UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map8p12UniSTS
HuRefX94,278,427 - 94,278,542UniSTS
HuRef823,830,831 - 23,830,946UniSTS
HuRef11107,979,802 - 107,979,917UniSTS
DXS94  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X104,062,660 - 104,063,076UniSTSGRCh37
GRCh37X104,051,447 - 104,052,218UniSTSGRCh37
Build 36X103,938,103 - 103,938,874RGDNCBI36
CeleraX104,525,984 - 104,526,755RGD
CeleraX104,537,197 - 104,537,613UniSTS
Cytogenetic MapXq22UniSTS
Cytogenetic MapXq12-q26UniSTS
Cytogenetic MapXp11.3-q21UniSTS
HuRefX93,675,223 - 93,675,994UniSTS
HuRefX93,686,434 - 93,686,850UniSTS
DXS17  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X104,899,530 - 104,900,222UniSTSGRCh37
Build 36X104,786,186 - 104,786,878RGDNCBI36
CeleraX105,374,086 - 105,374,778RGD
Cytogenetic MapXq22UniSTS
HuRefX94,525,477 - 94,526,169UniSTS
RH103718  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X104,463,790 - 104,463,912UniSTSGRCh37
Build 36X104,350,446 - 104,350,568RGDNCBI36
CeleraX104,938,377 - 104,938,499RGD
Cytogenetic MapXq22UniSTS
Cytogenetic MapXq22.3UniSTS
HuRefX94,089,348 - 94,089,470UniSTS
GeneMap99-GB4 RH MapX294.21UniSTS
DXS1348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X104,108,753 - 104,108,890UniSTSGRCh37
Build 36X103,995,409 - 103,995,546RGDNCBI36
CeleraX104,583,295 - 104,583,432RGD
Cytogenetic MapXq22UniSTS
HuRefX93,732,420 - 93,732,557UniSTS
DXS8236  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X104,875,098 - 104,875,204UniSTSGRCh37
Build 36X104,761,754 - 104,761,860RGDNCBI36
CeleraX105,349,663 - 105,349,769RGD
Cytogenetic MapXq22UniSTS
HuRefX94,501,021 - 94,501,127UniSTS
DXS1427  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X104,989,053 - 104,989,112UniSTSGRCh37
Build 36X104,875,709 - 104,875,768RGDNCBI36
CeleraX105,463,608 - 105,463,667RGD
Cytogenetic MapXq22UniSTS
HuRefX94,614,444 - 94,614,503UniSTS
G60457  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X103,870,870 - 103,871,210UniSTSGRCh37
Build 36X103,757,526 - 103,757,866RGDNCBI36
CeleraX104,345,476 - 104,345,816RGD
Cytogenetic MapXq22UniSTS
HuRefX93,494,887 - 93,495,227UniSTS
TNG Radiation Hybrid MapX23010.0UniSTS
TNG Radiation Hybrid Map328204.0UniSTS
RH118890  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X104,162,313 - 104,162,599UniSTSGRCh37
Build 36X104,048,969 - 104,049,255RGDNCBI36
CeleraX104,636,846 - 104,637,132RGD
Cytogenetic MapXq22UniSTS
HuRefX93,787,395 - 93,787,681UniSTS
stSG49025  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X104,019,726 - 104,019,880UniSTSGRCh37
Build 36X103,906,382 - 103,906,536RGDNCBI36
CeleraX104,494,271 - 104,494,425RGD
Cytogenetic MapXq22UniSTS
HuRefX93,642,770 - 93,642,924UniSTS
stSG81882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X104,101,963 - 104,102,125UniSTSGRCh37
Build 36X103,988,619 - 103,988,781RGDNCBI36
CeleraX104,576,504 - 104,576,666RGD
Cytogenetic MapXq22UniSTS
HuRefX93,725,629 - 93,725,791UniSTS
G65773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X104,464,815 - 104,464,992UniSTSGRCh37
Build 36X104,351,471 - 104,351,648RGDNCBI36
CeleraX104,939,400 - 104,939,577RGD
Cytogenetic MapXq22UniSTS
Cytogenetic MapXq22.3UniSTS
HuRefX94,090,371 - 94,090,548UniSTS
IL1RAPL2_1619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X105,011,120 - 105,011,926UniSTSGRCh37
Build 36X104,897,776 - 104,898,582RGDNCBI36
CeleraX105,485,674 - 105,486,480RGD
HuRefX94,636,801 - 94,637,607UniSTS
L41733  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X104,338,292 - 104,338,355UniSTSGRCh37
Build 36X104,224,948 - 104,225,011RGDNCBI36
CeleraX104,812,884 - 104,812,947RGD
Cytogenetic MapXq22UniSTS
HuRefX93,964,828 - 93,964,891UniSTS
L77280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X104,045,587 - 104,045,667UniSTSGRCh37
Build 36X103,932,243 - 103,932,323RGDNCBI36
CeleraX104,520,125 - 104,520,205RGD
Cytogenetic MapXq22UniSTS
HuRefX93,669,328 - 93,669,408UniSTS
DXS7799  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X104,970,246 - 104,970,339UniSTSGRCh37
Build 36X104,856,902 - 104,856,995RGDNCBI36
CeleraX105,444,800 - 105,444,893RGD
Cytogenetic MapXq22UniSTS
HuRefX94,595,942 - 94,596,035UniSTS
L77748  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X104,262,521 - 104,262,678UniSTSGRCh37
Build 36X104,149,177 - 104,149,334RGDNCBI36
CeleraX104,737,115 - 104,737,272RGD
Cytogenetic MapXq22UniSTS
HuRefX93,888,593 - 93,888,750UniSTS
L77284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X103,987,531 - 103,987,650UniSTSGRCh37
Build 36X103,874,187 - 103,874,306RGDNCBI36
CeleraX104,462,141 - 104,462,260RGD
Cytogenetic MapXq22UniSTS
HuRefX93,610,529 - 93,610,648UniSTS
AFMA071TG1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X104,200,997 - 104,201,206UniSTSGRCh37
Build 36X104,087,653 - 104,087,862RGDNCBI36
CeleraX104,675,579 - 104,675,800RGD
Cytogenetic MapXq22UniSTS
HuRefX93,826,067 - 93,826,288UniSTS
Whitehead-YAC Contig MapX UniSTS
DXS8182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X104,338,342 - 104,338,403UniSTSGRCh37
Build 36X104,224,998 - 104,225,059RGDNCBI36
CeleraX104,812,934 - 104,812,995RGD
Cytogenetic MapXq22UniSTS
HuRefX93,964,878 - 93,964,939UniSTS
DXS7621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X104,872,038 - 104,872,109UniSTSGRCh37
Build 36X104,758,694 - 104,758,765RGDNCBI36
CeleraX105,346,600 - 105,346,671RGD
Cytogenetic MapXq22UniSTS
HuRefX94,498,027 - 94,498,098UniSTS
DXS7784  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X104,038,793 - 104,038,855UniSTSGRCh37
Build 36X103,925,449 - 103,925,511RGDNCBI36
CeleraX104,513,330 - 104,513,392RGD
Cytogenetic MapXq22UniSTS
HuRefX93,662,533 - 93,662,595UniSTS
AL008888  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X104,020,417 - 104,020,523UniSTSGRCh37
Build 36X103,907,073 - 103,907,179RGDNCBI36
CeleraX104,494,962 - 104,495,068RGD
Cytogenetic MapXq22UniSTS
HuRefX93,643,461 - 93,643,567UniSTS
DXS1498  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq22UniSTS
HuRefX94,041,554 - 94,041,616UniSTS
DXS94  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq22UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:267
Count of miRNA genes:215
Interacting mature miRNAs:221
Transcripts:ENST00000344799, ENST00000372582, ENST00000485671
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 adipose tissue appendage entire extraembryonic component
High
Medium 1 1 1 1 2 1 1 1
Low 67 10 124 100 39 102 308 41 455 65 250 83 4 227 4
Below cutoff 1781 1193 899 401 359 294 2115 1226 2390 223 939 655 110 590 1324

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF181285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF212016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF284436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ272208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ290436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL008642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL021812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
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Reference Sequences
RefSeq Acc Id: ENST00000344799   ⟹   ENSP00000344976
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX105,717,366 - 105,767,661 (+)Ensembl
RefSeq Acc Id: ENST00000372582   ⟹   ENSP00000361663
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX104,566,199 - 105,767,829 (+)Ensembl
RefSeq Acc Id: ENST00000485671
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX105,740,649 - 105,765,345 (+)Ensembl
RefSeq Acc Id: NM_017416   ⟹   NP_059112
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X104,566,199 - 105,767,829 (+)NCBI
GRCh37X103,810,996 - 105,011,822 (+)RGD
Build 36X103,697,652 - 104,898,478 (+)NCBI Archive
CeleraX104,285,598 - 105,486,376 (+)RGD
HuRefX93,435,071 - 94,637,503 (+)ENTREZGENE
CHM1_1X103,721,823 - 104,923,126 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530905   ⟹   XP_011529207
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X105,220,963 - 105,769,729 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_059112   ⟸   NM_017416
- Peptide Label: precursor
- UniProtKB: Q9NP60 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529207   ⟸   XM_011530905
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000361663   ⟸   ENST00000372582
RefSeq Acc Id: ENSP00000344976   ⟸   ENST00000344799
Protein Domains
Ig-like   Ig-like C2-type   TIR

Promoters
RGD ID:13627768
Promoter ID:EPDNEW_H29159
Type:initiation region
Name:IL1RAPL2_1
Description:interleukin 1 receptor accessory protein like 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29160  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X104,566,199 - 104,566,259EPDNEW
RGD ID:13627770
Promoter ID:EPDNEW_H29160
Type:single initiation site
Name:IL1RAPL2_2
Description:interleukin 1 receptor accessory protein like 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29159  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X104,590,797 - 104,590,857EPDNEW

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
NM_017416.1(IL1RAPL2):c.-20+1221C>A single nucleotide variant Lung cancer [RCV000102141] ChrX:104568272 [GRCh38]
ChrX:103812953 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_017416.1(IL1RAPL2):c.82+168225T>C single nucleotide variant Lung cancer [RCV000102142] ChrX:104827221 [GRCh38]
ChrX:104071901 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_017416.1(IL1RAPL2):c.82+189344T>C single nucleotide variant Lung cancer [RCV000102143] ChrX:104848340 [GRCh38]
ChrX:104093020 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_017416.1(IL1RAPL2):c.82+252300A>T single nucleotide variant Lung cancer [RCV000102144] ChrX:104911295 [GRCh38]
ChrX:104155976 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_017416.1(IL1RAPL2):c.83-174233G>T single nucleotide variant Lung cancer [RCV000102145] ChrX:105021242 [GRCh38]
ChrX:104265924 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_017416.1(IL1RAPL2):c.83-63552A>G single nucleotide variant Lung cancer [RCV000102146] ChrX:105131922 [GRCh38]
ChrX:104376605 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_017416.1(IL1RAPL2):c.83-10714T>C single nucleotide variant Lung cancer [RCV000102147] ChrX:105184761 [GRCh38]
ChrX:104429443 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_017416.1(IL1RAPL2):c.357-1398G>C single nucleotide variant Lung cancer [RCV000102148] ChrX:105232420 [GRCh38]
ChrX:104477104 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_017416.1(IL1RAPL2):c.697+51327C>T single nucleotide variant Lung cancer [RCV000102149] ChrX:105318866 [GRCh38]
ChrX:104563551 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_017416.1(IL1RAPL2):c.697+53770C>T single nucleotide variant Lung cancer [RCV000102150] ChrX:105321309 [GRCh38]
ChrX:104565994 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_017416.1(IL1RAPL2):c.772+81249G>A single nucleotide variant Lung cancer [RCV000102151] ChrX:105565635 [GRCh38]
ChrX:104809628 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_017416.1(IL1RAPL2):c.772+102655C>G single nucleotide variant Lung cancer [RCV000102152] ChrX:105587041 [GRCh38]
ChrX:104831034 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_017416.1(IL1RAPL2):c.772+106189T>A single nucleotide variant Lung cancer [RCV000102153] ChrX:105590575 [GRCh38]
ChrX:104834568 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_017416.1(IL1RAPL2):c.773-25815A>G single nucleotide variant Lung cancer [RCV000102154] ChrX:105691552 [GRCh38]
ChrX:104935545 [GRCh37]
ChrX:Xq22.3
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq22.1-22.3(chrX:101407698-106274188)x1 copy number loss See cases [RCV000051715] ChrX:101407698..106274188 [GRCh38]
ChrX:100772737..105517404 [GRCh37]
ChrX:100549342..105404060 [NCBI36]
ChrX:Xq22.1-22.3
pathogenic
GRCh38/hg38 Xq22.1-22.3(chrX:102070552-108264804)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|See cases [RCV000051716] ChrX:102070552..108264804 [GRCh38]
ChrX:101325524..107508034 [GRCh37]
ChrX:101212180..107394690 [NCBI36]
ChrX:Xq22.1-22.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xq21.31-22.3(chrX:89372737-106174548)x3 copy number gain See cases [RCV000052440] ChrX:89372737..106174548 [GRCh38]
ChrX:88627736..105418541 [GRCh37]
ChrX:88514392..105305197 [NCBI36]
ChrX:Xq21.31-22.3
pathogenic
GRCh38/hg38 Xq22.1-22.3(chrX:101620923-107632397)x3 copy number gain See cases [RCV000052441] ChrX:101620923..107632397 [GRCh38]
ChrX:100875913..106875627 [GRCh37]
ChrX:100762569..106762283 [NCBI36]
ChrX:Xq22.1-22.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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)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 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-22.3(chrX:95823036-104957737)x1 copy number loss See cases [RCV000139979] ChrX:95823036..104957737 [GRCh38]
ChrX:95078035..104202418 [GRCh37]
ChrX:94964691..104089074 [NCBI36]
ChrX:Xq21.33-22.3
pathogenic
GRCh38/hg38 Xq22.3(chrX:104917368-104945823)x3 copy number gain See cases [RCV000140216] ChrX:104917368..104945823 [GRCh38]
ChrX:104162049..104190504 [GRCh37]
ChrX:104048705..104077160 [NCBI36]
ChrX:Xq22.3
likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xq22.2-22.3(chrX:104164387-105103297)x2 copy number gain See cases [RCV000142960] ChrX:104164387..105103297 [GRCh38]
ChrX:103552340..104347979 [GRCh37]
ChrX:103295724..104234635 [NCBI36]
ChrX:Xq22.2-22.3
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 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:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
pathogenic
GRCh37/hg19 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 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.2-22.3(chrX:103046942-104214535)x0 copy number loss See cases [RCV000448347] ChrX:103046942..104214535 [GRCh37]
ChrX:Xq22.2-22.3
likely pathogenic
GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)x2 copy number gain See cases [RCV000448592] ChrX:103158718..111556067 [GRCh37]
ChrX:Xq22.2-23
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23
pathogenic|uncertain significance
GRCh37/hg19 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 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 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
GRCh37/hg19 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 Xq22.3(chrX:104552572-104723419)x0 copy number loss not provided [RCV000684370] ChrX:104552572..104723419 [GRCh37]
ChrX:Xq22.3
uncertain significance
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_001012755.5(SLC25A53):c.-22690_-32+1371dup duplication 9q34 microduplication syndrome [RCV000851535] ChrX:104155507..104179536 [GRCh38]
ChrX:Xq22.2
uncertain significance
GRCh37/hg19 Xq22.3(chrX:104472224-104985376)x3 copy number gain not provided [RCV000753694] ChrX:104472224..104985376 [GRCh37]
ChrX:Xq22.3
benign
GRCh37/hg19 Xq22.3(chrX:104768801-104985376)x3 copy number gain not provided [RCV000753695] ChrX:104768801..104985376 [GRCh37]
ChrX:Xq22.3
benign
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
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 Xq22.3(chrX:104728884-105652106)x0 copy number loss not provided [RCV001007331] ChrX:104728884..105652106 [GRCh37]
ChrX:Xq22.3
pathogenic
GRCh37/hg19 Xq22.1-22.3(chrX:101029649-106702784)x1 copy number loss Early Onset Neurological Disease Trait [RCV000993775] ChrX:101029649..106702784 [GRCh37]
ChrX:Xq22.1-22.3
pathogenic
NM_017416.2(IL1RAPL2):c.317C>T (p.Ala106Val) single nucleotide variant not provided [RCV000900861] ChrX:105195709 [GRCh38]
ChrX:104440391 [GRCh37]
ChrX:Xq22.3
likely benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_017416.2(IL1RAPL2):c.698-9C>T single nucleotide variant not provided [RCV000902215] ChrX:105484304 [GRCh38]
ChrX:104728296 [GRCh37]
ChrX:Xq22.3
likely benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq22.1-22.3(chrX:102066350-105409822)x1 copy number loss Early Onset Neurological Disease Trait [RCV000993774] ChrX:102066350..105409822 [GRCh37]
ChrX:Xq22.1-22.3
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 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq22.1-22.3(chrX:102436725-105520605)x1 copy number loss Early Onset Neurological Disease Trait [RCV000993773] ChrX:102436725..105520605 [GRCh37]
ChrX:Xq22.1-22.3
uncertain significance
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 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_017416.2(IL1RAPL2):c.1144T>C (p.Leu382=) single nucleotide variant not provided [RCV000920994] ChrX:105749055 [GRCh38]
ChrX:104993048 [GRCh37]
ChrX:Xq22.3
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 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xq22.3(chrX:104617127-104730331)x0 copy number loss not provided [RCV001259489] ChrX:104617127..104730331 [GRCh37]
ChrX:Xq22.3
uncertain significance
GRCh37/hg19 Xq22.3(chrX:104014566-104293233)x2 copy number gain not provided [RCV001259492] ChrX:104014566..104293233 [GRCh37]
ChrX:Xq22.3
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5997 AgrOrtholog
COSMIC IL1RAPL2 COSMIC
Ensembl Genes ENSG00000189108 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000344976 UniProtKB/TrEMBL
  ENSP00000361663 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000344799 UniProtKB/TrEMBL
  ENST00000372582 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.10140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000189108 GTEx
HGNC ID HGNC:5997 ENTREZGENE
Human Proteome Map IL1RAPL2 Human Proteome Map
InterPro Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_6 UniProtKB/Swiss-Prot
  Ig_sub UniProtKB/Swiss-Prot
  IL-1_rcpt_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IL-1_rcpt_II-typ UniProtKB/Swiss-Prot
  Immunoglobulin UniProtKB/Swiss-Prot
  TIR_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Toll_tir_struct_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26280 UniProtKB/Swiss-Prot
NCBI Gene 26280 ENTREZGENE
OMIM 300277 OMIM
PANTHER PTHR11890 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ig_2 UniProtKB/Swiss-Prot
  Ig_6 UniProtKB/Swiss-Prot
  PF00047 UniProtKB/Swiss-Prot
  TIR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29813 PharmGKB
PRINTS INTRLEUKN1R2 UniProtKB/Swiss-Prot
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00409 UniProtKB/Swiss-Prot
  TIR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MRB9_HUMAN UniProtKB/TrEMBL
  IRPL2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q2M3U3 UniProtKB/Swiss-Prot
  Q9NZN0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 IL1RAPL2  interleukin 1 receptor accessory protein like 2  IL1RAPL2  interleukin 1 receptor accessory protein-like 2  Symbol and/or name change 5135510 APPROVED