IL1RAPL1 (interleukin 1 receptor accessory protein like 1) - Rat Genome Database

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Gene: IL1RAPL1 (interleukin 1 receptor accessory protein like 1) Homo sapiens
Analyze
Symbol: IL1RAPL1
Name: interleukin 1 receptor accessory protein like 1
RGD ID: 735979
HGNC Page HGNC
Description: Predicted to have signaling receptor binding activity. Involved in negative regulation of exocytosis; regulation of synapse organization; and trans-synaptic signaling by trans-synaptic complex. Localizes to glutamatergic synapse and plasma membrane. Implicated in intellectual disability and non-syndromic X-linked intellectual disability 21.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: IL-1-RAPL-1; IL-1RAPL-1; IL1R8; IL1RAPL; IL1RAPL-1; interleukin 1 receptor accessory protein-like 1; interleukin 1 receptor-8; interleukin-1 receptor accessory protein-like 1; mental retardation, X-linked 10; mental retardation, X-linked 21; MRX10; MRX21; MRX34; oligophrenin-4; OPHN4; three immunoglobulin domain-containing IL-1 receptor-related 2; TIGIRR-2; X-linked interleukin-1 receptor accessory protein-like 1
RGD Orthologs
Mouse
Rat
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 EnsemblX28,587,446 - 29,956,718 (+)EnsemblGRCh38hg38GRCh38
GRCh38X28,587,446 - 29,956,718 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X28,605,563 - 29,974,835 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X28,515,480 - 29,884,761 (+)NCBINCBI36hg18NCBI36
Build 34X28,365,215 - 29,734,493NCBI
CeleraX32,732,824 - 34,100,946 (+)NCBI
Cytogenetic MapXp21.3-p21.2NCBI
HuRefX26,346,333 - 27,710,305 (+)NCBIHuRef
CHM1_1X28,636,125 - 30,004,681 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe syndactyly  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Broad nasal tip  (IAGP)
Clinodactyly of the 2nd toe  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed speech and language development  (IAGP)
Dental crowding  (IAGP)
Depressed nasal bridge  (IAGP)
Downslanted palpebral fissures  (IAGP)
Drooling  (IAGP)
Facial palsy  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Global developmental delay  (IAGP)
Hyperactivity  (IAGP)
Hypertelorism  (IAGP)
Impulsivity  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Joint hypermobility  (IAGP)
Long palpebral fissure  (IAGP)
Long philtrum  (IAGP)
Macrocephaly  (IAGP)
Macroorchidism  (IAGP)
Mandibular prognathia  (IAGP)
Meckel diverticulum  (IAGP)
Midface retrusion  (IAGP)
Mild neurosensory hearing impairment  (IAGP)
Moderate sensorineural hearing impairment  (IAGP)
Nasal speech  (IAGP)
Obesity  (IAGP)
Open mouth  (IAGP)
Periorbital fullness  (IAGP)
Pes planus  (IAGP)
Poor speech  (IAGP)
Pyloric stenosis  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Short nose  (IAGP)
Shortening of all distal phalanges of the fingers  (IAGP)
Small for gestational age  (IAGP)
Strabismus  (IAGP)
Synophrys  (IAGP)
Tented upper lip vermilion  (IAGP)
Thick lower lip vermilion  (IAGP)
Thin upper lip vermilion  (IAGP)
Uplifted earlobe  (IAGP)
Upslanted palpebral fissure  (IAGP)
Urinary incontinence  (IAGP)
Widened subarachnoid space  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:1605216   PMID:8230164   PMID:8826442   PMID:8964912   PMID:10757639   PMID:10882729   PMID:11076863   PMID:12477932   PMID:12777533   PMID:12783849   PMID:15123616   PMID:15300857  
PMID:17110338   PMID:18253029   PMID:18467032   PMID:18801879   PMID:19012350   PMID:19736351   PMID:19913121   PMID:20301604   PMID:20452482   PMID:20479760   PMID:20628086   PMID:20673868  
PMID:20838585   PMID:21271657   PMID:21491612   PMID:21873635   PMID:21926414   PMID:21933724   PMID:21940441   PMID:22031302   PMID:25305082   PMID:25864829   PMID:27440233   PMID:27470653  
PMID:28120837   PMID:29072292   PMID:29730558   PMID:30103804   PMID:30548231  


Genomics

Comparative Map Data
IL1RAPL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX28,587,446 - 29,956,718 (+)EnsemblGRCh38hg38GRCh38
GRCh38X28,587,446 - 29,956,718 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X28,605,563 - 29,974,835 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X28,515,480 - 29,884,761 (+)NCBINCBI36hg18NCBI36
Build 34X28,365,215 - 29,734,493NCBI
CeleraX32,732,824 - 34,100,946 (+)NCBI
Cytogenetic MapXp21.3-p21.2NCBI
HuRefX26,346,333 - 27,710,305 (+)NCBIHuRef
CHM1_1X28,636,125 - 30,004,681 (+)NCBICHM1_1
Il1rapl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X85,784,543 - 87,159,554 (-)NCBIGRCm39mm39
GRCm39 EnsemblX85,784,476 - 87,159,251 (-)Ensembl
GRCm38X86,740,937 - 88,115,948 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX86,740,870 - 88,115,645 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X83,992,581 - 85,360,962 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X82,999,961 - 83,673,259 (-)NCBImm8
CeleraX55,555,320 - 55,782,072 (-)NCBICelera
Cytogenetic MapXC1NCBI
Il1rapl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X51,371,969 - 52,876,726 (-)NCBI
Rnor_6.0 EnsemblX55,439,578 - 56,765,893 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X55,439,388 - 57,004,865 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X56,557,676 - 57,548,519 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0X55,629,811 - 55,687,317 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X73,692,262 - 74,993,367 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X73,765,553 - 74,546,358 (-)NCBI
CeleraX51,905,428 - 53,154,707 (-)NCBICelera
Cytogenetic MapXq21NCBI
IL1RAPL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X28,743,801 - 30,110,177 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX28,950,521 - 30,109,286 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X21,180,693 - 22,548,122 (+)NCBIMhudiblu_PPA_v0panPan3
IL1RAPL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X23,747,689 - 25,105,606 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX23,943,871 - 25,099,377 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX28,716,786 - 30,072,066 (+)NCBI
ROS_Cfam_1.0X23,768,977 - 25,120,119 (+)NCBI
UMICH_Zoey_3.1X23,811,147 - 25,168,166 (+)NCBI
UNSW_CanFamBas_1.0X23,817,557 - 25,165,880 (+)NCBI
UU_Cfam_GSD_1.0X23,913,009 - 25,261,426 (+)NCBI
Il1rapl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X16,779,973 - 18,009,042 (+)NCBI
SpeTri2.0NW_0049365535,063,042 - 5,824,427 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IL1RAPL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX24,645,529 - 25,805,945 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X24,408,092 - 25,811,129 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X28,021,764 - 28,070,970 (+)NCBISscrofa10.2Sscrofa10.2susScr3
IL1RAPL1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X27,014,769 - 28,388,176 (+)NCBI
Il1rapl1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624787266,027 - 1,489,032 (-)NCBI

Position Markers
DXS9896  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X29,337,160 - 29,337,358UniSTSGRCh37
Build 36X29,247,081 - 29,247,279RGDNCBI36
Cytogenetic MapXp22.1-p21.3UniSTS
Marshfield Genetic MapX30.84UniSTS
Marshfield Genetic MapX30.84RGD
deCODE Assembly MapX43.85UniSTS
DXS1218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X29,155,323 - 29,155,589UniSTSGRCh37
GRCh37X29,155,450 - 29,155,641UniSTSGRCh37
Build 36X29,065,244 - 29,065,510RGDNCBI36
CeleraX33,284,200 - 33,284,468RGD
CeleraX33,284,329 - 33,284,520UniSTS
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX26,891,917 - 26,892,108UniSTS
HuRefX26,891,790 - 26,892,056UniSTS
Marshfield Genetic MapX30.84UniSTS
Marshfield Genetic MapX30.84RGD
Genethon Genetic MapX41.7UniSTS
deCODE Assembly MapX43.85UniSTS
Whitehead-YAC Contig MapX UniSTS
DXS7150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X28,769,025 - 28,769,232UniSTSGRCh37
Build 36X28,678,946 - 28,679,153RGDNCBI36
CeleraX32,896,545 - 32,896,752RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX26,509,160 - 26,509,367UniSTS
Whitehead-RH MapX27.6UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX43.0UniSTS
DXS7549  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X29,938,298 - 29,938,472UniSTSGRCh37
Build 36X29,848,219 - 29,848,393RGDNCBI36
CeleraX34,065,211 - 34,065,385RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX27,674,596 - 27,674,770UniSTS
Whitehead-RH MapX24.8UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX43.0UniSTS
G43644  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X28,871,450 - 28,871,719UniSTSGRCh37
Build 36X28,781,371 - 28,781,640RGDNCBI36
CeleraX32,999,276 - 32,999,545RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX26,611,813 - 26,612,141UniSTS
DXS1147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X28,771,534 - 28,771,644UniSTSGRCh37
Build 36X28,681,455 - 28,681,565RGDNCBI36
CeleraX32,899,056 - 32,899,166RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX26,511,671 - 26,511,781UniSTS
DXS1086  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X28,675,238 - 28,675,387UniSTSGRCh37
Build 36X28,585,159 - 28,585,308RGDNCBI36
CeleraX32,802,759 - 32,802,908RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX26,415,707 - 26,415,856UniSTS
DXS1088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X30,082,437 - 30,082,645UniSTSGRCh37
GRCh37X29,861,032 - 29,861,173UniSTSGRCh37
Build 36X29,992,358 - 29,992,566RGDNCBI36
CeleraX34,203,951 - 34,204,159RGD
CeleraX33,987,967 - 33,988,108UniSTS
HuRefX27,817,916 - 27,818,124UniSTS
SHGC-82540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X28,950,440 - 28,950,741UniSTSGRCh37
Build 36X28,860,361 - 28,860,662RGDNCBI36
CeleraX33,079,093 - 33,079,394RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX26,688,853 - 26,689,154UniSTS
SHGC-81223  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X28,830,039 - 28,830,382UniSTSGRCh37
Build 36X28,739,960 - 28,740,303RGDNCBI36
CeleraX32,957,876 - 32,958,219RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX26,570,294 - 26,570,637UniSTS
TNG Radiation Hybrid MapX8548.0UniSTS
SHGC-81082  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X29,018,544 - 29,018,814UniSTSGRCh37
Build 36X28,928,465 - 28,928,735RGDNCBI36
CeleraX33,147,064 - 33,147,334RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX26,756,458 - 26,756,728UniSTS
SHGC-79613  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X29,676,310 - 29,676,603UniSTSGRCh37
Build 36X29,586,231 - 29,586,524RGDNCBI36
CeleraX33,804,167 - 33,804,460RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX27,413,200 - 27,413,493UniSTS
TNG Radiation Hybrid MapX9150.0UniSTS
RH118717  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X29,898,888 - 29,899,169UniSTSGRCh37
Build 36X29,808,809 - 29,809,090RGDNCBI36
CeleraX34,025,821 - 34,026,102RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX27,635,046 - 27,635,327UniSTS
TNG Radiation Hybrid MapX18815.0UniSTS
RH119559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X29,135,096 - 29,135,375UniSTSGRCh37
Build 36X29,045,017 - 29,045,296RGDNCBI36
CeleraX33,263,973 - 33,264,252RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX26,866,742 - 26,867,021UniSTS
RH118463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X29,516,728 - 29,516,961UniSTSGRCh37
Build 36X29,426,649 - 29,426,882RGDNCBI36
CeleraX33,645,665 - 33,645,898RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX27,252,834 - 27,253,067UniSTS
TNG Radiation Hybrid MapX9204.0UniSTS
RH118707  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X29,370,954 - 29,371,265UniSTSGRCh37
Build 36X29,280,875 - 29,281,186RGDNCBI36
CeleraX33,499,873 - 33,500,184RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX27,107,574 - 27,107,885UniSTS
TNG Radiation Hybrid MapX9079.0UniSTS
DXS7261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X28,860,617 - 28,860,732UniSTSGRCh37
Build 36X28,770,538 - 28,770,653RGDNCBI36
CeleraX32,988,441 - 32,988,556RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX26,600,834 - 26,600,949UniSTS
G66845  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X28,977,971 - 28,978,249UniSTSGRCh37
Build 36X28,887,892 - 28,888,170RGDNCBI36
CeleraX33,106,635 - 33,106,913RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX26,716,601 - 26,716,879UniSTS
G66898  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X28,783,890 - 28,784,220UniSTSGRCh37
Build 36X28,693,811 - 28,694,141RGDNCBI36
CeleraX32,911,412 - 32,911,742RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX26,524,020 - 26,524,350UniSTS
SHGC-145120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X29,487,172 - 29,487,444UniSTSGRCh37
Build 36X29,397,093 - 29,397,365RGDNCBI36
CeleraX33,616,096 - 33,616,368RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX27,223,390 - 27,223,662UniSTS
TNG Radiation Hybrid MapX9189.0UniSTS
A008N45  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X29,428,976 - 29,429,101UniSTSGRCh37
Build 36X29,338,897 - 29,339,022RGDNCBI36
CeleraX33,557,894 - 33,558,019RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX27,165,722 - 27,165,847UniSTS
GeneMap99-GB4 RH MapX105.78UniSTS
NCBI RH MapX43.0UniSTS
IL1RAPL1_153  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X29,973,299 - 29,974,070UniSTSGRCh37
Build 36X29,883,220 - 29,883,991RGDNCBI36
CeleraX34,100,228 - 34,100,999RGD
HuRefX27,709,587 - 27,710,358UniSTS
AFM066XF3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X28,785,793 - 28,785,881UniSTSGRCh37
Build 36X28,695,714 - 28,695,802RGDNCBI36
CeleraX32,913,315 - 32,913,399RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX26,526,155 - 26,526,239UniSTS
Whitehead-YAC Contig MapX UniSTS
DXS7508  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X28,829,964 - 28,830,172UniSTSGRCh37
Build 36X28,739,885 - 28,740,093RGDNCBI36
CeleraX32,957,801 - 32,958,009RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX26,570,219 - 26,570,427UniSTS
Whitehead-YAC Contig MapX UniSTS
WI-16438  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X29,974,662 - 29,974,764UniSTSGRCh37
Build 36X29,884,583 - 29,884,685RGDNCBI36
CeleraX34,101,591 - 34,101,693RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX27,710,950 - 27,711,052UniSTS
GeneMap99-GB4 RH MapX105.78UniSTS
Whitehead-RH MapX27.6UniSTS
NCBI RH MapX43.0UniSTS
WI-13533  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X29,013,875 - 29,014,024UniSTSGRCh37
Build 36X28,923,796 - 28,923,945RGDNCBI36
CeleraX33,142,395 - 33,142,544RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX26,751,789 - 26,751,938UniSTS
GeneMap99-GB4 RH MapX104.48UniSTS
Whitehead-RH MapX27.6UniSTS
NCBI RH MapX43.0UniSTS
L29671  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X28,732,399 - 28,732,605UniSTSGRCh37
Build 36X28,642,320 - 28,642,526RGDNCBI36
CeleraX32,859,917 - 32,860,123RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX26,472,375 - 26,472,581UniSTS
RH46137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X29,737,708 - 29,737,828UniSTSGRCh37
Build 36X29,647,629 - 29,647,749RGDNCBI36
CeleraX33,863,728 - 33,863,848RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX27,473,607 - 27,473,727UniSTS
GeneMap99-GB4 RH MapX104.65UniSTS
DXS7534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X28,887,394 - 28,887,504UniSTSGRCh37
Build 36X28,797,315 - 28,797,425RGDNCBI36
CeleraX33,015,220 - 33,015,330RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX26,628,054 - 26,628,164UniSTS
Whitehead-RH MapX19.9UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX43.0UniSTS
SHGC-37351  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X29,012,045 - 29,012,172UniSTSGRCh37
Build 36X28,921,966 - 28,922,093RGDNCBI36
CeleraX33,140,565 - 33,140,692RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX26,749,959 - 26,750,086UniSTS
GeneMap99-G3 RH MapX376.0UniSTS
AFMA082XB9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X29,954,595 - 29,954,719UniSTSGRCh37
Build 36X29,864,516 - 29,864,640RGDNCBI36
CeleraX34,081,525 - 34,081,649RGD
Cytogenetic MapXp22.1-p21.3UniSTS
HuRefX27,690,777 - 27,690,901UniSTS
Whitehead-YAC Contig MapX UniSTS
BAC_374-A19  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X28,682,102 - 28,682,215UniSTSGRCh37
Build 36X28,592,023 - 28,592,136RGDNCBI36
CeleraX32,809,625 - 32,809,738RGD
HuRefX26,422,560 - 26,422,673UniSTS
IL1RAPL1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X28,606,267 - 28,606,542UniSTSGRCh37
CeleraX32,733,410 - 32,733,683UniSTS
HuRefX26,346,918 - 26,347,186UniSTS
DXS1088  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp22.1-p21.3UniSTS
DXS1218  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp22.1-p21.3UniSTS
Cytogenetic MapXp21.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:701
Count of miRNA genes:494
Interacting mature miRNAs:549
Transcripts:ENST00000302196, ENST00000378993
Prediction methods: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 3 3 3 31 2 5 1 3 14
Low 133 149 69 25 17 29 734 72 2396 47 116 87 2 6 615
Below cutoff 2070 1672 1075 286 424 156 2582 1880 1305 186 1106 1011 134 1065 1481 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB101891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC002367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC003659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC121343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC121344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC129851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC129852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC134149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF181284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF284435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ243874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL008710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN994486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH212163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000302196   ⟹   ENSP00000305200
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX29,917,463 - 29,955,820 (+)Ensembl
RefSeq Acc Id: ENST00000378993   ⟹   ENSP00000368278
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX28,587,446 - 29,956,718 (+)Ensembl
RefSeq Acc Id: NM_014271   ⟹   NP_055086
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X28,587,446 - 29,956,718 (+)NCBI
GRCh37X28,605,681 - 29,974,467 (+)NCBI
Build 36X28,515,480 - 29,884,761 (+)NCBI Archive
HuRefX26,346,333 - 27,710,305 (+)ENTREZGENE
CHM1_1X28,636,125 - 30,004,681 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029240   ⟹   XP_016884729
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X28,717,608 - 29,956,350 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029241   ⟹   XP_016884730
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X29,299,474 - 29,956,350 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_055086 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884729 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884730 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF59411 (Get FASTA)   NCBI Sequence Viewer  
  AAG21369 (Get FASTA)   NCBI Sequence Viewer  
  AAI26346 (Get FASTA)   NCBI Sequence Viewer  
  AAI26348 (Get FASTA)   NCBI Sequence Viewer  
  AHW56511 (Get FASTA)   NCBI Sequence Viewer  
  AXS67846 (Get FASTA)   NCBI Sequence Viewer  
  BAC80450 (Get FASTA)   NCBI Sequence Viewer  
  BAC80451 (Get FASTA)   NCBI Sequence Viewer  
  BAC80452 (Get FASTA)   NCBI Sequence Viewer  
  BAC80453 (Get FASTA)   NCBI Sequence Viewer  
  BAC80454 (Get FASTA)   NCBI Sequence Viewer  
  BAC80455 (Get FASTA)   NCBI Sequence Viewer  
  BAC80456 (Get FASTA)   NCBI Sequence Viewer  
  BAC80457 (Get FASTA)   NCBI Sequence Viewer  
  BAC80458 (Get FASTA)   NCBI Sequence Viewer  
  BAC80459 (Get FASTA)   NCBI Sequence Viewer  
  BAC80460 (Get FASTA)   NCBI Sequence Viewer  
  BAC80461 (Get FASTA)   NCBI Sequence Viewer  
  BAC80462 (Get FASTA)   NCBI Sequence Viewer  
  BAC80463 (Get FASTA)   NCBI Sequence Viewer  
  BAC80464 (Get FASTA)   NCBI Sequence Viewer  
  BAC80465 (Get FASTA)   NCBI Sequence Viewer  
  BAC80466 (Get FASTA)   NCBI Sequence Viewer  
  BAC80467 (Get FASTA)   NCBI Sequence Viewer  
  BAC80468 (Get FASTA)   NCBI Sequence Viewer  
  BAC80469 (Get FASTA)   NCBI Sequence Viewer  
  BAC81119 (Get FASTA)   NCBI Sequence Viewer  
  CAB56046 (Get FASTA)   NCBI Sequence Viewer  
  EAW99046 (Get FASTA)   NCBI Sequence Viewer  
  Q9NZN1 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_055086   ⟸   NM_014271
- Peptide Label: precursor
- UniProtKB: Q9NZN1 (UniProtKB/Swiss-Prot),   X5DNQ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884729   ⟸   XM_017029240
- Peptide Label: isoform X1
- UniProtKB: Q9NZN1 (UniProtKB/Swiss-Prot),   X5DNQ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016884730   ⟸   XM_017029241
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000368278   ⟸   ENST00000378993
RefSeq Acc Id: ENSP00000305200   ⟸   ENST00000302196
Protein Domains
Ig-like   Ig-like C2-type   TIR

Promoters
RGD ID:13604968
Promoter ID:EPDNEW_H28667
Type:initiation region
Name:IL1RAPL1_1
Description:interleukin 1 receptor accessory protein like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28668  EPDNEW_H28669  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X28,587,131 - 28,587,191EPDNEW
RGD ID:13604966
Promoter ID:EPDNEW_H28668
Type:initiation region
Name:IL1RAPL1_2
Description:interleukin 1 receptor accessory protein like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28667  EPDNEW_H28669  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X28,587,474 - 28,587,534EPDNEW
RGD ID:13604970
Promoter ID:EPDNEW_H28669
Type:multiple initiation site
Name:IL1RAPL1_3
Description:interleukin 1 receptor accessory protein like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28668  EPDNEW_H28667  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X28,659,035 - 28,659,095EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NG_008292.1:g.700375-?_1335033+?del deletion Intellectual disability, X-linked 21 [RCV000022836] ChrX:Xp22.1-p21.3 pathogenic
t(X;19)(p21.2;q13.41)dn translocation not specified [RCV000727545] ChrX:29154505..29154514 [GRCh38]
Chr19:52732935..52732954 [GRCh38]
Chr19:19q13.41
ChrX:Xp21.3
uncertain significance
t(X;19)(p21.2;q13.41)dn translocation Intellectual disability, X-linked 21 [RCV000727544] ChrX:29154505..29154514 [GRCh38]
Chr19:52732935..52732954 [GRCh38]
Chr19:19q13.41
ChrX:Xp21.3
pathogenic
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_014271.4(IL1RAPL1):c.1377C>A (p.Tyr459Ter) single nucleotide variant Intellectual disability, X-linked 21 [RCV000012235] ChrX:29955106 [GRCh38]
ChrX:29973223 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_014271.4(IL1RAPL1):c.1460G>A (p.Trp487Ter) single nucleotide variant Intellectual disability, X-linked 21 [RCV000012236] ChrX:29955189 [GRCh38]
ChrX:29973306 [GRCh37]
ChrX:Xp21.2
pathogenic
IL1RAPL1, EX2-5DEL deletion Intellectual disability, X-linked 21 [RCV000012237] ChrX:Xp22.1-p21.3 pathogenic
NM_014271.3(IL1RAPL1):c.82+165T>C single nucleotide variant Lung cancer [RCV000102519] ChrX:28789590 [GRCh38]
ChrX:28807707 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_014271.3(IL1RAPL1):c.82+165942A>C single nucleotide variant Lung cancer [RCV000102520] ChrX:28955367 [GRCh38]
ChrX:28973484 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_014271.3(IL1RAPL1):c.363-37345C>A single nucleotide variant Lung cancer [RCV000102521] ChrX:29358913 [GRCh38]
ChrX:29377030 [GRCh37]
ChrX:Xp21.2
uncertain significance
NM_014271.3(IL1RAPL1):c.703+97695T>C single nucleotide variant Lung cancer [RCV000102522] ChrX:29497003 [GRCh38]
ChrX:29515120 [GRCh37]
ChrX:Xp21.2
uncertain significance
NM_014271.3(IL1RAPL1):c.778+93560C>T single nucleotide variant Lung cancer [RCV000102523] ChrX:29762064 [GRCh38]
ChrX:29780181 [GRCh37]
ChrX:Xp21.2
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 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
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 Xp21.3(chrX:28759823-29094411)x2 copy number gain See cases [RCV000052386] ChrX:28759823..29094411 [GRCh38]
ChrX:28777940..29112528 [GRCh37]
ChrX:28687861..29022449 [NCBI36]
ChrX:Xp21.3
pathogenic
GRCh38/hg38 Xp21.2(chrX:29713271-29740951)x3 copy number gain See cases [RCV000052387] ChrX:29713271..29740951 [GRCh38]
ChrX:29731388..29759068 [GRCh37]
ChrX:29641309..29668989 [NCBI36]
ChrX:Xp21.2
pathogenic
GRCh38/hg38 Xp22.11-11.4(chrX:22420237-38834728)x1 copy number loss See cases [RCV000053063] ChrX:22420237..38834728 [GRCh38]
ChrX:22438354..38693981 [GRCh37]
ChrX:22348275..38578925 [NCBI36]
ChrX:Xp22.11-11.4
pathogenic
GRCh38/hg38 Xp21.3-21.2(chrX:29128906-29515069)x1 copy number loss See cases [RCV000053064] ChrX:29128906..29515069 [GRCh38]
ChrX:29147023..29533186 [GRCh37]
ChrX:29056944..29443107 [NCBI36]
ChrX:Xp21.3-21.2
pathogenic
GRCh38/hg38 Xp21.3-21.2(chrX:29207382-29910715)x0 copy number loss See cases [RCV000053076] ChrX:29207382..29910715 [GRCh38]
ChrX:29225499..29928832 [GRCh37]
ChrX:29135420..29838753 [NCBI36]
ChrX:Xp21.3-21.2
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 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
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 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
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 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
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 Xp21.3(chrX:28415968-28811707)x3 copy number gain See cases [RCV000054162] ChrX:28415968..28811707 [GRCh38]
ChrX:28434085..28829824 [GRCh37]
ChrX:28344006..28739745 [NCBI36]
ChrX:Xp21.3
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
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
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
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 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
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 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
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 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
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 Xp21.2(chrX:29520795-29619551)x0 copy number loss See cases [RCV000136043] ChrX:29520795..29619551 [GRCh38]
ChrX:29538912..29637668 [GRCh37]
ChrX:29448833..29547589 [NCBI36]
ChrX:Xp21.2
uncertain significance
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 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp21.2(chrX:29619149-29890183)x2 copy number gain See cases [RCV000136881] ChrX:29619149..29890183 [GRCh38]
ChrX:29637266..29908300 [GRCh37]
ChrX:29547187..29818221 [NCBI36]
ChrX:Xp21.2
uncertain significance
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 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
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 Xp21.2(chrX:29948980-30119516)x3 copy number gain See cases [RCV000137288] ChrX:29948980..30119516 [GRCh38]
ChrX:29967097..30137633 [GRCh37]
ChrX:29877018..30047554 [NCBI36]
ChrX:Xp21.2
uncertain significance
GRCh38/hg38 Xp21.3(chrX:28794135-28818044)x0 copy number loss See cases [RCV000138044] ChrX:28794135..28818044 [GRCh38]
ChrX:28812252..28836161 [GRCh37]
ChrX:28722173..28746082 [NCBI36]
ChrX:Xp21.3
uncertain significance
GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp21.2(chrX:29601718-30322946)x3 copy number gain See cases [RCV000138204] ChrX:29601718..30322946 [GRCh38]
ChrX:29619835..30341063 [GRCh37]
ChrX:29529756..30250984 [NCBI36]
ChrX:Xp21.2
likely pathogenic|likely benign
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp21.3-11.4(chrX:28234352-37850186)x3 copy number gain See cases [RCV000138078] ChrX:28234352..37850186 [GRCh38]
ChrX:28252469..37709439 [GRCh37]
ChrX:28162390..37594383 [NCBI36]
ChrX:Xp21.3-11.4
likely pathogenic|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 Xp21.2(chrX:29415178-29922758)x2 copy number gain See cases [RCV000138241] ChrX:29415178..29922758 [GRCh38]
ChrX:29433295..29940875 [GRCh37]
ChrX:29343216..29850796 [NCBI36]
ChrX:Xp21.2
uncertain significance
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
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 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 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 Xp21.2(chrX:29420406-29482124)x3 copy number gain See cases [RCV000140489] ChrX:29420406..29482124 [GRCh38]
ChrX:29438523..29500241 [GRCh37]
ChrX:29348444..29410162 [NCBI36]
ChrX:Xp21.2
likely benign
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
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 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
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 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 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
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 Xp21.3-11.4(chrX:28218244-37855706)x3 copy number gain See cases [RCV000143685] ChrX:28218244..37855706 [GRCh38]
ChrX:28236361..37714959 [GRCh37]
ChrX:28146282..37599903 [NCBI36]
ChrX:Xp21.3-11.4
uncertain significance
GRCh38/hg38 Xp21.3(chrX:28773665-28885326)x3 copy number gain See cases [RCV000143673] ChrX:28773665..28885326 [GRCh38]
ChrX:28791782..28903443 [GRCh37]
ChrX:28701703..28813364 [NCBI36]
ChrX:Xp21.3
likely benign|uncertain significance
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
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
NM_014271.4(IL1RAPL1):c.2067C>G (p.Thr689=) single nucleotide variant Intellectual disability, X-linked 21 [RCV000266920]|not provided [RCV000951198]|not specified [RCV000194730] ChrX:29955796 [GRCh38]
ChrX:29973913 [GRCh37]
ChrX:Xp21.2
benign|likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp21.3(chrX:28803130-28903570)x2 copy number gain See cases [RCV000240090] ChrX:28803130..28903570 [GRCh37]
ChrX:Xp21.3
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_014271.4(IL1RAPL1):c.-19G>A single nucleotide variant Intellectual disability, X-linked 21 [RCV000382997]|not specified [RCV000289385] ChrX:28789325 [GRCh38]
ChrX:28807442 [GRCh37]
ChrX:Xp21.3
benign
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
NM_014271.4(IL1RAPL1):c.894_903del (p.Trp299fs) deletion Intellectual disability [RCV000224084] ChrX:29917576..29917585 [GRCh38]
ChrX:29935693..29935702 [GRCh37]
ChrX:Xp21.2
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 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
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
NM_014271.4(IL1RAPL1):c.-402G>A single nucleotide variant Intellectual disability, X-linked 21 [RCV000303062] ChrX:28587670 [GRCh38]
ChrX:28605787 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_014271.4(IL1RAPL1):c.83-6C>T single nucleotide variant Intellectual disability, X-linked 21 [RCV000294851]|not provided [RCV000949212] ChrX:29282932 [GRCh38]
ChrX:29301049 [GRCh37]
ChrX:Xp21.3
benign|likely benign
NM_014271.4(IL1RAPL1):c.-39G>A single nucleotide variant Intellectual disability, X-linked 21 [RCV000269165] ChrX:28588033 [GRCh38]
ChrX:28606150 [GRCh37]
ChrX:Xp21.3
benign
NM_014271.4(IL1RAPL1):c.-302dup duplication Non-syndromic X-linked intellectual disability [RCV000357791] ChrX:28587759..28587760 [GRCh38]
ChrX:28605876..28605877 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_014271.4(IL1RAPL1):c.1690A>C (p.Ile564Leu) single nucleotide variant Intellectual disability, X-linked 21 [RCV000361594] ChrX:29955419 [GRCh38]
ChrX:29973536 [GRCh37]
ChrX:Xp21.2
uncertain significance
NM_014271.4(IL1RAPL1):c.-303_-302del deletion Non-syndromic X-linked intellectual disability [RCV000323102] ChrX:28587760..28587761 [GRCh38]
ChrX:28605877..28605878 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_014271.4(IL1RAPL1):c.-20C>T single nucleotide variant Intellectual disability, X-linked 21 [RCV000328466] ChrX:28789324 [GRCh38]
ChrX:28807441 [GRCh37]
ChrX:Xp21.3
benign|likely benign
NM_014271.4(IL1RAPL1):c.83-8dup duplication Non-syndromic X-linked intellectual disability [RCV000388951] ChrX:29282923..29282924 [GRCh38]
ChrX:29301040..29301041 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_014271.4(IL1RAPL1):c.-82C>A single nucleotide variant Intellectual disability, X-linked 21 [RCV000382291] ChrX:28587990 [GRCh38]
ChrX:28606107 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_014271.4(IL1RAPL1):c.206G>A (p.Ser69Asn) single nucleotide variant Intellectual disability, X-linked 21 [RCV000335751] ChrX:29283061 [GRCh38]
ChrX:29301178 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_014271.4(IL1RAPL1):c.12G>A (p.Pro4=) single nucleotide variant History of neurodevelopmental disorder [RCV000720995]|Intellectual disability, X-linked 21 [RCV000293389]|not provided [RCV000871282] ChrX:28789355 [GRCh38]
ChrX:28807472 [GRCh37]
ChrX:Xp21.3
benign|likely benign
NM_014271.4(IL1RAPL1):c.703+1G>A single nucleotide variant not provided [RCV000384824] ChrX:29399309 [GRCh38]
ChrX:29417426 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_014271.4(IL1RAPL1):c.1191G>A (p.Glu397=) single nucleotide variant Intellectual disability, X-linked 21 [RCV000337441]|not provided [RCV000865466] ChrX:29941784 [GRCh38]
ChrX:29959901 [GRCh37]
ChrX:Xp21.2
benign|likely benign
NM_014271.4(IL1RAPL1):c.-405T>A single nucleotide variant Intellectual disability, X-linked 21 [RCV000261921] ChrX:28587667 [GRCh38]
ChrX:28605784 [GRCh37]
ChrX:Xp21.3
uncertain significance
NM_014271.4(IL1RAPL1):c.36C>T (p.Tyr12=) single nucleotide variant Intellectual disability, X-linked 21 [RCV000348337]|not provided [RCV000877022]|not specified [RCV000500374] ChrX:28789379 [GRCh38]
ChrX:28807496 [GRCh37]
ChrX:Xp21.3
benign|likely benign
NM_014271.4(IL1RAPL1):c.1368T>A (p.Thr456=) single nucleotide variant Intellectual disability, X-linked 21 [RCV000405038] ChrX:29954688 [GRCh38]
ChrX:29972805 [GRCh37]
ChrX:Xp21.2
uncertain significance
NM_014271.4(IL1RAPL1):c.726C>A (p.Pro242=) single nucleotide variant Intellectual disability, X-linked 21 [RCV000404156] ChrX:29668452 [GRCh38]
ChrX:29686569 [GRCh37]
ChrX:Xp21.2
benign|likely benign
NM_014271.4(IL1RAPL1):c.1089C>T (p.Gly363=) single nucleotide variant Intellectual disability, X-linked 21 [RCV000301171] ChrX:29941682 [GRCh38]
ChrX:29959799 [GRCh37]
ChrX:Xp21.2
benign|likely benign
NM_014271.4(IL1RAPL1):c.1605G>T (p.Thr535=) single nucleotide variant Intellectual disability, X-linked 21 [RCV000302374]|not provided [RCV000871093] ChrX:29955334 [GRCh38]
ChrX:29973451 [GRCh37]
ChrX:Xp21.2
benign|likely benign
NM_014271.4(IL1RAPL1):c.-302del deletion Non-syndromic X-linked intellectual disability [RCV000267990] ChrX:28587760 [GRCh38]
ChrX:28605877 [GRCh37]
ChrX:Xp21.3
benign
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 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
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:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
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
NM_014271.4(IL1RAPL1):c.845A>G (p.Tyr282Cys) single nucleotide variant not provided [RCV000445251] ChrX:29917530 [GRCh38]
ChrX:29935647 [GRCh37]
ChrX:Xp21.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_014271.4(IL1RAPL1):c.911+6T>C single nucleotide variant not specified [RCV000417922] ChrX:29917602 [GRCh38]
ChrX:29935719 [GRCh37]
ChrX:Xp21.2
likely benign
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 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
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 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_014271.4(IL1RAPL1):c.621_623AGA[1] (p.Glu208del) microsatellite IL1RAPL1-Related Disorder [RCV000509346]|not provided [RCV000484971] ChrX:29399226..29399228 [GRCh38]
ChrX:29417343..29417345 [GRCh37]
ChrX:Xp21.2
likely pathogenic|not provided
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_014271.4(IL1RAPL1):c.136G>A (p.Gly46Arg) single nucleotide variant not provided [RCV000498869] ChrX:29282991 [GRCh38]
ChrX:29301108 [GRCh37]
ChrX:Xp21.3
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 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_014271.4(IL1RAPL1):c.523A>G (p.Arg175Gly) single nucleotide variant not provided [RCV000497654] ChrX:29396418 [GRCh38]
ChrX:29414535 [GRCh37]
ChrX:Xp21.2
uncertain significance
NM_014271.4(IL1RAPL1):c.784T>G (p.Ser262Ala) single nucleotide variant not specified [RCV000502457] ChrX:29917469 [GRCh38]
ChrX:29935586 [GRCh37]
ChrX:Xp21.2
likely benign
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 Xp21.3-21.2(chrX:28939939-29452556)x3 copy number gain See cases [RCV000510486] ChrX:28939939..29452556 [GRCh37]
ChrX:Xp21.3-21.2
likely pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2 copy number gain See cases [RCV000511443] ChrX:15290524..29747172 [GRCh37]
ChrX:Xp22.2-21.2
likely pathogenic
GRCh37/hg19 Xp21.2(chrX:29592037-29687129)x0 copy number loss See cases [RCV000511530] ChrX:29592037..29687129 [GRCh37]
ChrX:Xp21.2
uncertain significance
GRCh37/hg19 Xp21.3-21.2(chrX:29083492-29529757)x3 copy number gain See cases [RCV000511437] ChrX:29083492..29529757 [GRCh37]
ChrX:Xp21.3-21.2
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 Xp21.2(chrX:29592037-29806113)x3 copy number gain See cases [RCV000510948] ChrX:29592037..29806113 [GRCh37]
ChrX:Xp21.2
likely benign
GRCh37/hg19 Xp21.2(chrX:29956480-29987355)x3 copy number gain See cases [RCV000511175] ChrX:29956480..29987355 [GRCh37]
ChrX:Xp21.2
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.3-21.2(chrX:29074496-29533329)x3 copy number gain See cases [RCV000511009] ChrX:29074496..29533329 [GRCh37]
ChrX:Xp21.3-21.2
uncertain significance
NM_014271.4(IL1RAPL1):c.651A>C (p.Glu217Asp) single nucleotide variant not provided [RCV000585219] ChrX:29399256 [GRCh38]
ChrX:29417373 [GRCh37]
ChrX:Xp21.2
uncertain significance
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
NM_014271.4(IL1RAPL1):c.779-6C>G single nucleotide variant not specified [RCV000600319] ChrX:29917458 [GRCh38]
ChrX:29935575 [GRCh37]
ChrX:Xp21.2
likely benign
GRCh37/hg19 Xp21.3(chrX:28795062-28903443)x2 copy number gain See cases [RCV000512151] ChrX:28795062..28903443 [GRCh37]
ChrX:Xp21.3
uncertain significance
NC_000023.10:g.(28450110_28771544)_(31838019_32614088)del deletion Congenital adrenal hypoplasia, X-linked [RCV000512729] ChrX:28753427..31819902 [GRCh38]
ChrX:28771544..31838019 [GRCh37]
ChrX:Xp21.3-21.1
pathogenic
NC_000023.10:g.(29155333_29973170)_(30327505_30577779)del deletion Congenital adrenal hypoplasia, X-linked [RCV000513148] ChrX:29955053..30309388 [GRCh38]
ChrX:29973170..30327505 [GRCh37]
ChrX:Xp21.3-21.2
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.11-21.1(chrX:24650157-31844543)x2 copy number gain not provided [RCV000684294] ChrX:24650157..31844543 [GRCh37]
ChrX:Xp22.11-21.1
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp21.3-21.2(chrX:28388902-29395393)x3 copy number gain not provided [RCV000684296] ChrX:28388902..29395393 [GRCh37]
ChrX:Xp21.3-21.2
uncertain significance
GRCh37/hg19 Xp21.3(chrX:28791782-28920645)x3 copy number gain not provided [RCV000684297] ChrX:28791782..28920645 [GRCh37]
ChrX:Xp21.3
uncertain significance
GRCh37/hg19 Xp21.3-21.2(chrX:29154202-29881444)x1 copy number loss not provided [RCV000684299] ChrX:29154202..29881444 [GRCh37]
ChrX:Xp21.3-21.2
pathogenic
GRCh37/hg19 Xp21.3-21.2(chrX:29264011-30035665)x3 copy number gain not provided [RCV000684300] ChrX:29264011..30035665 [GRCh37]
ChrX:Xp21.3-21.2
uncertain significance
GRCh37/hg19 Xp21.2(chrX:29400224-29721917)x0 copy number loss not provided [RCV000684301] ChrX:29400224..29721917 [GRCh37]
ChrX:Xp21.2
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
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 Xp21.3(chrX:29052133-29296840)x1 copy number loss not provided [RCV000684298] ChrX:29052133..29296840 [GRCh37]
ChrX:Xp21.3
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.3(chrX:29155601-29161281)x1 copy number loss not provided [RCV000753447] ChrX:29155601..29161281 [GRCh37]
ChrX:Xp21.3
benign
GRCh37/hg19 Xp21.3(chrX:29266788-29268076)x1 copy number loss not provided [RCV000753449] ChrX:29266788..29268076 [GRCh37]
ChrX:Xp21.3
benign
GRCh37/hg19 Xp21.3(chrX:29266900-29278905)x0 copy number loss not provided [RCV000753450] ChrX:29266900..29278905 [GRCh37]
ChrX:Xp21.3
benign
GRCh37/hg19 Xp21.2(chrX:29401731-29458203)x3 copy number gain not provided [RCV000753451] ChrX:29401731..29458203 [GRCh37]
ChrX:Xp21.2
benign
GRCh37/hg19 Xp21.2(chrX:29407624-29437104)x3 copy number gain not provided [RCV000753453] ChrX:29407624..29437104 [GRCh37]
ChrX:Xp21.2
benign
GRCh37/hg19 Xp21.2(chrX:29408812-29437104)x3 copy number gain not provided [RCV000753454] ChrX:29408812..29437104 [GRCh37]
ChrX:Xp21.2
benign
GRCh37/hg19 Xp21.2(chrX:29533539-29647078)x0 copy number loss not provided [RCV000753455] ChrX:29533539..29647078 [GRCh37]
ChrX:Xp21.2
benign
GRCh37/hg19 Xp21.2(chrX:29535223-29647935)x1 copy number loss not provided [RCV000753456] ChrX:29535223..29647935 [GRCh37]
ChrX:Xp21.2
benign
GRCh37/hg19 Xp21.2(chrX:29600321-29608156)x1 copy number loss not provided [RCV000753457] ChrX:29600321..29608156 [GRCh37]
ChrX:Xp21.2
benign
GRCh37/hg19 Xp21.3(chrX:28926276-28983957)x3 copy number gain not provided [RCV000753446] ChrX:28926276..28983957 [GRCh37]
ChrX:Xp21.3
benign
GRCh37/hg19 Xp21.3(chrX:29155601-29161281)x4 copy number gain not provided [RCV000753448] ChrX:29155601..29161281 [GRCh37]
ChrX:Xp21.3
benign
GRCh37/hg19 Xp21.2(chrX:29405631-29414139)x3 copy number gain not provided [RCV000753452] ChrX:29405631..29414139 [GRCh37]
ChrX:Xp21.2
benign
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
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: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
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_014271.4(IL1RAPL1):c.424C>G (p.Leu142Val) single nucleotide variant Intellectual disability, X-linked 21 [RCV000760228] ChrX:29396319 [GRCh38]
ChrX:29414436 [GRCh37]
ChrX:Xp21.2
uncertain significance
NM_014271.4(IL1RAPL1):c.1191_1201+6del deletion Intellectual disability, X-linked 21 [RCV000760253] ChrX:29941782..29941798 [GRCh38]
ChrX:29959899..29959915 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_014271.4(IL1RAPL1):c.1054C>T (p.Arg352Ter) single nucleotide variant not provided [RCV000760584] ChrX:29920091 [GRCh38]
ChrX:29938208 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_014271.4(IL1RAPL1):c.-25+14A>C single nucleotide variant Intellectual disability, X-linked 21 [RCV001165506] ChrX:28588061 [GRCh38]
ChrX:28606178 [GRCh37]
ChrX:Xp21.3
benign
NM_014271.4(IL1RAPL1):c.879G>A (p.Leu293=) single nucleotide variant not provided [RCV000902818] ChrX:29917564 [GRCh38]
ChrX:29935681 [GRCh37]
ChrX:Xp21.2
likely benign
NM_014271.4(IL1RAPL1):c.1320G>A (p.Lys440=) single nucleotide variant not provided [RCV000946186] ChrX:29954640 [GRCh38]
ChrX:29972757 [GRCh37]
ChrX:Xp21.2
likely benign
NM_014271.4(IL1RAPL1):c.2049G>A (p.Pro683=) single nucleotide variant not provided [RCV000876240] ChrX:29955778 [GRCh38]
ChrX:29973895 [GRCh37]
ChrX:Xp21.2
benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_014271.4(IL1RAPL1):c.1959T>C (p.Pro653=) single nucleotide variant not provided [RCV000873061] ChrX:29955688 [GRCh38]
ChrX:29973805 [GRCh37]
ChrX:Xp21.2
benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_014271.4(IL1RAPL1):c.1452A>G (p.Arg484=) single nucleotide variant not provided [RCV000999361] ChrX:29955181 [GRCh38]
ChrX:29973298 [GRCh37]
ChrX:Xp21.2
uncertain significance
NM_014271.4(IL1RAPL1):c.2038G>A (p.Ala680Thr) single nucleotide variant not provided [RCV000999362] ChrX:29955767 [GRCh38]
ChrX:29973884 [GRCh37]
ChrX:Xp21.2
uncertain significance
GRCh37/hg19 Xp21.2(chrX:29850354-29941972)x2 copy number gain not provided [RCV000849136] ChrX:29850354..29941972 [GRCh37]
ChrX:Xp21.2
uncertain significance
GRCh37/hg19 Xp21.2(chrX:29420819-29823087)x2 copy number gain not provided [RCV000849137] ChrX:29420819..29823087 [GRCh37]
ChrX:Xp21.2
uncertain significance
GRCh37/hg19 Xp21.2(chrX:29850354-29941972)x3 copy number gain not provided [RCV000849167] ChrX:29850354..29941972 [GRCh37]
ChrX:Xp21.2
uncertain significance
GRCh37/hg19 Xp21.2(chrX:29420819-29823087)x3 copy number gain not provided [RCV000849169] ChrX:29420819..29823087 [GRCh37]
ChrX:Xp21.2
uncertain significance
GRCh37/hg19 Xp21.2(chrX:29537720-29650056)x0 copy number loss not provided [RCV000847044] ChrX:29537720..29650056 [GRCh37]
ChrX:Xp21.2
uncertain significance
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_014271.4(IL1RAPL1):c.1602G>A (p.Leu534=) single nucleotide variant Intellectual disability, X-linked 21 [RCV001167686] ChrX:29955331 [GRCh38]
ChrX:29973448 [GRCh37]
ChrX:Xp21.2
uncertain significance
NM_014271.4(IL1RAPL1):c.408T>C (p.Gly136=) single nucleotide variant Intellectual disability, X-linked 21 [RCV001167105] ChrX:29396303 [GRCh38]
ChrX:29414420 [GRCh37]
ChrX:Xp21.2
uncertain significance
NM_014271.4(IL1RAPL1):c.108C>T (p.Ile36=) single nucleotide variant not provided [RCV000917403] ChrX:29282963 [GRCh38]
ChrX:29301080 [GRCh37]
ChrX:Xp21.3
likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
Single allele deletion Chromosome Xp21 deletion syndrome [RCV000845038] ChrX:27346252..33328836 [GRCh37]
ChrX:Xp21.3-21.1
not provided
NM_014271.4(IL1RAPL1):c.83-5G>A single nucleotide variant not provided [RCV000916131] ChrX:29282933 [GRCh38]
ChrX:29301050 [GRCh37]
ChrX:Xp21.3
likely benign
GRCh37/hg19 Xp21.3(chrX:28693981-28926653)x2 copy number gain not provided [RCV000846544] ChrX:28693981..28926653 [GRCh37]
ChrX:Xp21.3
uncertain significance
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp21.2(chrX:29420819-29944311)x2 copy number gain not provided [RCV000846286] ChrX:29420819..29944311 [GRCh37]
ChrX:Xp21.2
uncertain significance
GRCh37/hg19 Xp22.12-21.1(chrX:20925922-35511818)x1 copy number loss not provided [RCV000847678] ChrX:20925922..35511818 [GRCh37]
ChrX:Xp22.12-21.1
pathogenic
NM_014271.4(IL1RAPL1):c.1910C>G (p.Thr637Ser) single nucleotide variant Intellectual disability, X-linked 21 [RCV000990557] ChrX:29955639 [GRCh38]
ChrX:29973756 [GRCh37]
ChrX:Xp21.2
uncertain significance
GRCh37/hg19 Xp21.3(chrX:28429528-28693954)x3 copy number gain not provided [RCV000845686] ChrX:28429528..28693954 [GRCh37]
ChrX:Xp21.3
uncertain significance
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_014271.4(IL1RAPL1):c.779G>A (p.Gly260Asp) single nucleotide variant Intellectual disability, X-linked 21 [RCV001167107] ChrX:29917464 [GRCh38]
ChrX:29935581 [GRCh37]
ChrX:Xp21.2
uncertain significance
NM_014271.4(IL1RAPL1):c.1039G>A (p.Val347Ile) single nucleotide variant not provided [RCV000908891] ChrX:29920076 [GRCh38]
ChrX:29938193 [GRCh37]
ChrX:Xp21.2
likely benign
NM_014271.4(IL1RAPL1):c.1938G>A (p.Gln646=) single nucleotide variant not provided [RCV000913339] ChrX:29955667 [GRCh38]
ChrX:29973784 [GRCh37]
ChrX:Xp21.2
likely benign
NM_014271.4(IL1RAPL1):c.1205A>G (p.Asn402Ser) single nucleotide variant not provided [RCV000999360] ChrX:29954525 [GRCh38]
ChrX:29972642 [GRCh37]
ChrX:Xp21.2
uncertain significance
GRCh37/hg19 Xp21.2(chrX:29535015-29646880)x0 copy number loss not provided [RCV001007280] ChrX:29535015..29646880 [GRCh37]
ChrX:Xp21.2
uncertain significance
GRCh37/hg19 Xp21.2(chrX:29819232-29956763)x3 copy number gain not provided [RCV001007281] ChrX:29819232..29956763 [GRCh37]
ChrX:Xp21.2
uncertain significance
NM_014271.4(IL1RAPL1):c.61G>T (p.Val21Phe) single nucleotide variant not provided [RCV001093396] ChrX:28789404 [GRCh38]
ChrX:28807521 [GRCh37]
ChrX:Xp21.3
uncertain significance
GRCh37/hg19 Xp21.2(chrX:29368279-29575090)x2 copy number gain not provided [RCV001007279] ChrX:29368279..29575090 [GRCh37]
ChrX:Xp21.2
likely pathogenic
NM_014271.4(IL1RAPL1):c.550-4A>G single nucleotide variant Intellectual disability, X-linked 21 [RCV001167106] ChrX:29399151 [GRCh38]
ChrX:29417268 [GRCh37]
ChrX:Xp21.2
benign
NM_014271.4(IL1RAPL1):c.1136A>G (p.Lys379Arg) single nucleotide variant Intellectual disability, X-linked 21 [RCV001167684] ChrX:29941729 [GRCh38]
ChrX:29959846 [GRCh37]
ChrX:Xp21.2
benign
NM_014271.4(IL1RAPL1):c.1443C>T (p.Tyr481=) single nucleotide variant Intellectual disability, X-linked 21 [RCV001167685]|not provided [RCV001311830] ChrX:29955172 [GRCh38]
ChrX:29973289 [GRCh37]
ChrX:Xp21.2
benign|likely benign
GRCh37/hg19 Xp21.2(chrX:29686547-29686621) copy number loss Intellectual disability, X-linked 21 [RCV001004088] ChrX:29686547..29686621 [GRCh37]
ChrX:Xp21.2
pathogenic
NM_014271.4(IL1RAPL1):c.1891G>A (p.Asp631Asn) single nucleotide variant Intellectual disability, X-linked 21 [RCV001253627] ChrX:29955620 [GRCh38]
ChrX:29973737 [GRCh37]
ChrX:Xp21.2
uncertain significance
GRCh37/hg19 Xp21.3-21.1(chrX:28309706-31853992)x1 copy number loss not provided [RCV001259445] ChrX:28309706..31853992 [GRCh37]
ChrX:Xp21.3-21.1
pathogenic
NM_014271.4(IL1RAPL1):c.1489C>T (p.Arg497Ter) single nucleotide variant Inborn genetic diseases [RCV001266678] ChrX:29955218 [GRCh38]
ChrX:29973335 [GRCh37]
ChrX:Xp21.2
likely pathogenic
NM_014271.4(IL1RAPL1):c.1198G>A (p.Gly400Arg) single nucleotide variant Inborn genetic diseases [RCV001266703] ChrX:29941791 [GRCh38]
ChrX:29959908 [GRCh37]
ChrX:Xp21.2
uncertain significance
NM_014271.4(IL1RAPL1):c.697_698del (p.Val233fs) deletion Intellectual disability [RCV001260739] ChrX:29399301..29399302 [GRCh38]
ChrX:29417418..29417419 [GRCh37]
ChrX:Xp21.2
likely pathogenic
NM_014271.4(IL1RAPL1):c.2071A>G (p.Ile691Val) single nucleotide variant Intellectual disability, X-linked 21 [RCV001262800] ChrX:29955800 [GRCh38]
ChrX:29973917 [GRCh37]
ChrX:Xp21.2
uncertain significance
NC_000023.10:g.[(?_29619835)_(29843303_?);(?_30646799)_(30848980_?)dup] complex Intellectual disability [RCV001271074] ChrX:29619835..29843303 [GRCh37]
ChrX:Xp21.2
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.2(chrX:29535015-29646874)x1 copy number loss not provided [RCV001259442] ChrX:29535015..29646874 [GRCh37]
ChrX:Xp21.2
uncertain significance
GRCh37/hg19 Xp21.3(chrX:28795062-28903443)x2 copy number gain not provided [RCV001259444] ChrX:28795062..28903443 [GRCh37]
ChrX:Xp21.3
uncertain significance
GRCh37/hg19 Xp21.3-21.2(chrX:29155819-29355225)x2 copy number gain not provided [RCV001259446] ChrX:29155819..29355225 [GRCh37]
ChrX:Xp21.3-21.2
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_014271.4(IL1RAPL1):c.1032C>A (p.His344Gln) single nucleotide variant not provided [RCV001327501] ChrX:29920069 [GRCh38]
ChrX:29938186 [GRCh37]
ChrX:Xp21.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5996 AgrOrtholog
COSMIC IL1RAPL1 COSMIC
Ensembl Genes ENSG00000169306 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000305200 UniProtKB/TrEMBL
  ENSP00000368278 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000302196 UniProtKB/TrEMBL
  ENST00000378993 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 ENSG00000169306 GTEx
HGNC ID HGNC:5996 ENTREZGENE
Human Proteome Map IL1RAPL1 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, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IL-1_rcpt_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Immunoglobulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIR_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Toll_tir_struct_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11141 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 11141 ENTREZGENE
OMIM 300143 OMIM
  300206 OMIM
PANTHER PTHR11890 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ig_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00047 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29812 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MR17_HUMAN UniProtKB/TrEMBL
  A0A346RP49_HUMAN UniProtKB/TrEMBL
  IRPL1_HUMAN UniProtKB/Swiss-Prot
  Q7Z2H0_HUMAN UniProtKB/TrEMBL
  Q7Z2K4_HUMAN UniProtKB/TrEMBL
  Q9NZN1 ENTREZGENE
  X5DNQ7 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A0AVG4 UniProtKB/Swiss-Prot
  Q9UJ53 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 IL1RAPL1  interleukin 1 receptor accessory protein like 1  MRX10  mental retardation, X-linked 10  Data Merged 737654 PROVISIONAL
2016-03-09 IL1RAPL1  interleukin 1 receptor accessory protein like 1  MRX21  mental retardation, X-linked 21  Data Merged 737654 PROVISIONAL
2016-01-19 IL1RAPL1  interleukin 1 receptor accessory protein like 1    interleukin 1 receptor accessory protein-like 1  Symbol and/or name change 5135510 APPROVED