TLR7 (toll like receptor 7) - Rat Genome Database

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Gene: TLR7 (toll like receptor 7) Homo sapiens
Analyze
Symbol: TLR7
Name: toll like receptor 7
RGD ID: 1353456
HGNC Page HGNC
Description: Exhibits double-stranded RNA binding activity. Involved in several processes, including I-kappaB phosphorylation; cellular response to mechanical stimulus; and positive regulation of cytokine production. Localizes to cytoplasm; plasma membrane; and receptor complex. Implicated in X-Linked immunodeficiency 74. Biomarker of anogenital venereal wart and respiratory syncytial virus infectious disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: IMD74; TLR7-like; toll-like receptor 7; toll-like receptor 7-like
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX12,867,072 - 12,890,361 (+)EnsemblGRCh38hg38GRCh38
GRCh38X12,867,072 - 12,890,361 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X12,885,191 - 12,908,480 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X12,795,123 - 12,818,401 (+)NCBINCBI36hg18NCBI36
Build 34X12,644,862 - 12,666,567NCBI
CeleraX16,999,208 - 17,022,486 (+)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX10,651,692 - 10,675,129 (+)NCBIHuRef
CHM1_1X12,915,641 - 12,938,921 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:9435236   PMID:11022119   PMID:11022120   PMID:11782555   PMID:11909637   PMID:11970999   PMID:12032557   PMID:12045249   PMID:12477932   PMID:12975309   PMID:14625308   PMID:15276183  
PMID:15489334   PMID:15695821   PMID:15778362   PMID:16024789   PMID:16025564   PMID:16111635   PMID:16116638   PMID:16188996   PMID:16230478   PMID:16286015   PMID:16446426   PMID:16482509  
PMID:16517754   PMID:16623926   PMID:16887967   PMID:16935934   PMID:16973388   PMID:17023556   PMID:17040905   PMID:17075576   PMID:17301562   PMID:17371961   PMID:17512627   PMID:17608805  
PMID:17609264   PMID:17698957   PMID:17703412   PMID:17907191   PMID:17956986   PMID:17964520   PMID:18021446   PMID:18088248   PMID:18215354   PMID:18250417   PMID:18385087   PMID:18394314  
PMID:18406377   PMID:18431484   PMID:18438411   PMID:18474259   PMID:18535206   PMID:18596825   PMID:18682521   PMID:18686608   PMID:18806803   PMID:18810425   PMID:18818748   PMID:18949362  
PMID:18995892   PMID:19019335   PMID:19114863   PMID:19120473   PMID:19129482   PMID:19164127   PMID:19258923   PMID:19265114   PMID:19381167   PMID:19406482   PMID:19452306   PMID:19454678  
PMID:19473567   PMID:19505919   PMID:19527514   PMID:19553637   PMID:19564354   PMID:19593445   PMID:19614650   PMID:19740627   PMID:19794067   PMID:19821521   PMID:19841637   PMID:19887600  
PMID:19913121   PMID:19915052   PMID:19924287   PMID:19948975   PMID:19954299   PMID:20007807   PMID:20026744   PMID:20042593   PMID:20100933   PMID:20124101   PMID:20190752   PMID:20194452  
PMID:20227302   PMID:20237413   PMID:20237496   PMID:20309865   PMID:20390327   PMID:20399690   PMID:20410486   PMID:20412752   PMID:20503287   PMID:20525845   PMID:20559388   PMID:20588308  
PMID:20592251   PMID:20595247   PMID:20605567   PMID:20628086   PMID:20733074   PMID:20819670   PMID:20821041   PMID:20832340   PMID:20872712   PMID:20977567   PMID:21037581   PMID:21039888  
PMID:21061265   PMID:21092001   PMID:21167247   PMID:21354862   PMID:21396113   PMID:21435390   PMID:21458848   PMID:21515789   PMID:21527067   PMID:21543762   PMID:21677671   PMID:21730058  
PMID:21734241   PMID:21844166   PMID:21873635   PMID:21947541   PMID:21958189   PMID:21977996   PMID:21988832   PMID:21990957   PMID:22022576   PMID:22065095   PMID:22196370   PMID:22210629  
PMID:22243920   PMID:22363482   PMID:22423970   PMID:22488361   PMID:22505023   PMID:22525943   PMID:22543675   PMID:22610069   PMID:22684144   PMID:22730373   PMID:22786773   PMID:22787112  
PMID:22857391   PMID:22952664   PMID:22952899   PMID:23023703   PMID:23069256   PMID:23150717   PMID:23179584   PMID:23221735   PMID:23316755   PMID:23369718   PMID:23376919   PMID:23382219  
PMID:23382558   PMID:23383108   PMID:23386618   PMID:23425350   PMID:23468661   PMID:23489702   PMID:23497717   PMID:23523654   PMID:23526932   PMID:23564191   PMID:23636665   PMID:23826189  
PMID:23827939   PMID:23924358   PMID:24046015   PMID:24071890   PMID:24138882   PMID:24227841   PMID:24269682   PMID:24347177   PMID:24375473   PMID:24390332   PMID:24445780   PMID:24447081  
PMID:24532514   PMID:24616506   PMID:24692849   PMID:24719462   PMID:24740301   PMID:24747071   PMID:24755410   PMID:24771848   PMID:24773332   PMID:24813206   PMID:24865418   PMID:24866018  
PMID:24886842   PMID:24909816   PMID:24919757   PMID:24971541   PMID:24990399   PMID:24994112   PMID:25005350   PMID:25008898   PMID:25034660   PMID:25051971   PMID:25108054   PMID:25126563  
PMID:25187660   PMID:25204046   PMID:25211222   PMID:25218653   PMID:25229618   PMID:25309919   PMID:25401424   PMID:25430040   PMID:25586463   PMID:25650422   PMID:25667414   PMID:25720442  
PMID:25741726   PMID:25763771   PMID:25785446   PMID:25790192   PMID:25817271   PMID:25828894   PMID:25862837   PMID:25879168   PMID:25882779   PMID:25912131   PMID:25917086   PMID:25923141  
PMID:25941114   PMID:26018863   PMID:26041742   PMID:26044169   PMID:26134824   PMID:26144250   PMID:26198699   PMID:26238718   PMID:26255864   PMID:26315138   PMID:26340429   PMID:26363072  
PMID:26371257   PMID:26483222   PMID:26512111   PMID:26718740   PMID:26723518   PMID:26725554   PMID:26741133   PMID:26762473   PMID:26888781   PMID:26903634   PMID:26996115   PMID:27003259  
PMID:27156628   PMID:27277333   PMID:27373425   PMID:27385120   PMID:27392462   PMID:27427388   PMID:27586271   PMID:27588480   PMID:27729782   PMID:27793997   PMID:27864310   PMID:27876497  
PMID:28028951   PMID:28062211   PMID:28122964   PMID:28243744   PMID:28321161   PMID:28397237   PMID:28403045   PMID:28408069   PMID:28544067   PMID:28606989   PMID:28626766   PMID:28652396  
PMID:28752959   PMID:28856441   PMID:28888110   PMID:28924041   PMID:28963470   PMID:29052054   PMID:29147913   PMID:29176742   PMID:29290528   PMID:29363775   PMID:29374079   PMID:29392496  
PMID:29448098   PMID:29533758   PMID:29567473   PMID:29712772   PMID:29873766   PMID:29895224   PMID:29947302   PMID:29964062   PMID:29968427   PMID:30102387   PMID:30138900   PMID:30210502  
PMID:30230983   PMID:30314758   PMID:30321082   PMID:30373864   PMID:30446998   PMID:30684342   PMID:30736860   PMID:30793925   PMID:30807256   PMID:30846988   PMID:31024563   PMID:31086948  
PMID:31090539   PMID:31154723   PMID:31329033   PMID:31339007   PMID:31481269   PMID:31501466   PMID:31511910   PMID:31613009   PMID:31615993   PMID:31630392   PMID:31642126   PMID:31662487  
PMID:31669193   PMID:31825829   PMID:31830058   PMID:32054102   PMID:32086319   PMID:32124394   PMID:32132319   PMID:32361001   PMID:32594688   PMID:32708790   PMID:33008143   PMID:33013883  
PMID:33138336   PMID:33275131   PMID:33432245   PMID:33650967  


Genomics

Comparative Map Data
TLR7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX12,867,072 - 12,890,361 (+)EnsemblGRCh38hg38GRCh38
GRCh38X12,867,072 - 12,890,361 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X12,885,191 - 12,908,480 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X12,795,123 - 12,818,401 (+)NCBINCBI36hg18NCBI36
Build 34X12,644,862 - 12,666,567NCBI
CeleraX16,999,208 - 17,022,486 (+)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX10,651,692 - 10,675,129 (+)NCBIHuRef
CHM1_1X12,915,641 - 12,938,921 (+)NCBICHM1_1
Tlr7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X166,086,376 - 166,113,570 (-)NCBIGRCm39mm39
GRCm39 EnsemblX166,087,925 - 166,113,554 (-)Ensembl
GRCm38X167,303,380 - 167,330,574 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX167,304,929 - 167,330,558 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X163,742,863 - 163,768,460 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X162,649,036 - 162,674,633 (-)NCBImm8
CeleraX150,452,330 - 150,504,044 (-)NCBICelera
Cytogenetic MapXF5NCBI
Tlr7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X27,027,380 - 27,054,309 (+)NCBI
Rnor_6.0 EnsemblX28,486,869 - 28,512,957 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X28,486,836 - 28,513,004 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X28,882,968 - 28,908,584 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X47,330,737 - 47,356,841 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX27,439,445 - 27,465,491 (+)NCBICelera
Cytogenetic MapXq13NCBI
Tlr7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955544424,850 - 443,564 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955544424,897 - 443,562 (-)NCBIChiLan1.0ChiLan1.0
TLR7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X12,768,698 - 12,790,517 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX12,767,981 - 12,790,517 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X5,479,247 - 5,504,810 (+)NCBIMhudiblu_PPA_v0panPan3
TLR7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X9,331,243 - 9,360,461 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX9,314,815 - 9,359,603 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX9,290,888 - 9,316,297 (+)NCBI
ROS_Cfam_1.0X9,283,446 - 9,312,699 (+)NCBI
UMICH_Zoey_3.1X9,270,957 - 9,296,384 (+)NCBI
UNSW_CanFamBas_1.0X9,310,224 - 9,335,853 (+)NCBI
UU_Cfam_GSD_1.0X9,302,542 - 9,328,038 (+)NCBI
Tlr7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X2,593,498 - 2,611,939 (+)NCBI
SpeTri2.0NW_0049364702,593,544 - 2,610,972 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TLR7
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X11,348,520 - 11,372,132 (+)NCBI
Tlr7
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248821,375,216 - 1,379,705 (-)NCBI

Position Markers
STS-N30597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,908,273 - 12,908,429UniSTSGRCh37
Build 36X12,818,194 - 12,818,350RGDNCBI36
CeleraX17,022,279 - 17,022,435RGD
Cytogenetic MapXp22.3UniSTS
HuRefX10,674,922 - 10,675,078UniSTS
GeneMap99-GB4 RH MapX85.4UniSTS
NCBI RH MapX10.0UniSTS
PMC128073P8  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,904,264 - 12,904,582UniSTSGRCh37
Build 36X12,814,185 - 12,814,503RGDNCBI36
CeleraX17,018,270 - 17,018,588RGD
Cytogenetic MapXp22.3UniSTS
HuRefX10,670,981 - 10,671,299UniSTS
DXS7724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,908,652 - 12,908,753UniSTSGRCh37
Build 36X12,818,573 - 12,818,674RGDNCBI36
CeleraX17,022,658 - 17,022,759RGD
Cytogenetic MapXp22.3UniSTS
HuRefX10,675,301 - 10,675,402UniSTS
TLR7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X12,906,412 - 12,906,711UniSTSGRCh37
CeleraX17,020,418 - 17,020,717UniSTS
HuRefX10,673,129 - 10,673,428UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
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Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:827
Count of miRNA genes:643
Interacting mature miRNAs:714
Transcripts:ENST00000380659, ENST00000484204
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 pharyngeal arch
High
Medium 6 3 492 5 1 16 32 41 7 1
Low 687 1187 489 212 1061 121 1155 161 1577 186 353 679 91 629 719 4 1
Below cutoff 1693 1723 1179 368 394 302 2927 1839 2101 187 1021 886 80 569 1892

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB445659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC003046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF240467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF245702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ022180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ022181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ022182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ022183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ022184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ022185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG322459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000380659   ⟹   ENSP00000370034
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX12,867,072 - 12,890,361 (+)Ensembl
RefSeq Acc Id: ENST00000484204
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX12,867,479 - 12,877,639 (+)Ensembl
RefSeq Acc Id: NM_016562   ⟹   NP_057646
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X12,867,072 - 12,890,361 (+)NCBI
GRCh37X12,885,202 - 12,908,480 (+)ENTREZGENE
Build 36X12,795,123 - 12,818,401 (+)NCBI Archive
HuRefX10,651,692 - 10,675,129 (+)ENTREZGENE
CHM1_1X12,915,641 - 12,938,921 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_057646 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF60188 (Get FASTA)   NCBI Sequence Viewer  
  AAF78035 (Get FASTA)   NCBI Sequence Viewer  
  AAH33651 (Get FASTA)   NCBI Sequence Viewer  
  AAQ88659 (Get FASTA)   NCBI Sequence Viewer  
  AAZ99021 (Get FASTA)   NCBI Sequence Viewer  
  AAZ99022 (Get FASTA)   NCBI Sequence Viewer  
  AAZ99023 (Get FASTA)   NCBI Sequence Viewer  
  AAZ99024 (Get FASTA)   NCBI Sequence Viewer  
  AAZ99025 (Get FASTA)   NCBI Sequence Viewer  
  AAZ99026 (Get FASTA)   NCBI Sequence Viewer  
  AVX47057 (Get FASTA)   NCBI Sequence Viewer  
  AVX47058 (Get FASTA)   NCBI Sequence Viewer  
  AVX47059 (Get FASTA)   NCBI Sequence Viewer  
  AVX47060 (Get FASTA)   NCBI Sequence Viewer  
  AVX47061 (Get FASTA)   NCBI Sequence Viewer  
  AVX47062 (Get FASTA)   NCBI Sequence Viewer  
  AVX47063 (Get FASTA)   NCBI Sequence Viewer  
  AVX47064 (Get FASTA)   NCBI Sequence Viewer  
  AVX47065 (Get FASTA)   NCBI Sequence Viewer  
  AVX47066 (Get FASTA)   NCBI Sequence Viewer  
  AVX47067 (Get FASTA)   NCBI Sequence Viewer  
  AVX47068 (Get FASTA)   NCBI Sequence Viewer  
  AVX47069 (Get FASTA)   NCBI Sequence Viewer  
  AVX47070 (Get FASTA)   NCBI Sequence Viewer  
  AVX47071 (Get FASTA)   NCBI Sequence Viewer  
  AVX47072 (Get FASTA)   NCBI Sequence Viewer  
  AVX47073 (Get FASTA)   NCBI Sequence Viewer  
  AVX47074 (Get FASTA)   NCBI Sequence Viewer  
  AVX47075 (Get FASTA)   NCBI Sequence Viewer  
  AVX47076 (Get FASTA)   NCBI Sequence Viewer  
  AVX47077 (Get FASTA)   NCBI Sequence Viewer  
  AVX47078 (Get FASTA)   NCBI Sequence Viewer  
  AVX47079 (Get FASTA)   NCBI Sequence Viewer  
  AVX47080 (Get FASTA)   NCBI Sequence Viewer  
  AVX47081 (Get FASTA)   NCBI Sequence Viewer  
  AVX47082 (Get FASTA)   NCBI Sequence Viewer  
  AVX47083 (Get FASTA)   NCBI Sequence Viewer  
  AVX47084 (Get FASTA)   NCBI Sequence Viewer  
  AVX47085 (Get FASTA)   NCBI Sequence Viewer  
  AVX47086 (Get FASTA)   NCBI Sequence Viewer  
  AVX47087 (Get FASTA)   NCBI Sequence Viewer  
  AVX47088 (Get FASTA)   NCBI Sequence Viewer  
  AVX47089 (Get FASTA)   NCBI Sequence Viewer  
  AVX47090 (Get FASTA)   NCBI Sequence Viewer  
  AVX47091 (Get FASTA)   NCBI Sequence Viewer  
  AVX47092 (Get FASTA)   NCBI Sequence Viewer  
  AVX47093 (Get FASTA)   NCBI Sequence Viewer  
  AVX47094 (Get FASTA)   NCBI Sequence Viewer  
  AVX47095 (Get FASTA)   NCBI Sequence Viewer  
  AVX47096 (Get FASTA)   NCBI Sequence Viewer  
  AVX47097 (Get FASTA)   NCBI Sequence Viewer  
  AVX47098 (Get FASTA)   NCBI Sequence Viewer  
  AVX47099 (Get FASTA)   NCBI Sequence Viewer  
  AVX47100 (Get FASTA)   NCBI Sequence Viewer  
  AVX47101 (Get FASTA)   NCBI Sequence Viewer  
  AVX47102 (Get FASTA)   NCBI Sequence Viewer  
  AVX47103 (Get FASTA)   NCBI Sequence Viewer  
  AVX47104 (Get FASTA)   NCBI Sequence Viewer  
  AVX47105 (Get FASTA)   NCBI Sequence Viewer  
  AVX47106 (Get FASTA)   NCBI Sequence Viewer  
  AVX47107 (Get FASTA)   NCBI Sequence Viewer  
  AVX47108 (Get FASTA)   NCBI Sequence Viewer  
  AVX47109 (Get FASTA)   NCBI Sequence Viewer  
  AVX47110 (Get FASTA)   NCBI Sequence Viewer  
  AVX47111 (Get FASTA)   NCBI Sequence Viewer  
  AVX47112 (Get FASTA)   NCBI Sequence Viewer  
  AVX47113 (Get FASTA)   NCBI Sequence Viewer  
  AVX47114 (Get FASTA)   NCBI Sequence Viewer  
  AVX47115 (Get FASTA)   NCBI Sequence Viewer  
  AVX47116 (Get FASTA)   NCBI Sequence Viewer  
  AVX47117 (Get FASTA)   NCBI Sequence Viewer  
  AVX47118 (Get FASTA)   NCBI Sequence Viewer  
  AVX47119 (Get FASTA)   NCBI Sequence Viewer  
  AVX47120 (Get FASTA)   NCBI Sequence Viewer  
  AVX47121 (Get FASTA)   NCBI Sequence Viewer  
  AVX47122 (Get FASTA)   NCBI Sequence Viewer  
  AVX47123 (Get FASTA)   NCBI Sequence Viewer  
  AVX47124 (Get FASTA)   NCBI Sequence Viewer  
  AVX47125 (Get FASTA)   NCBI Sequence Viewer  
  AVX47126 (Get FASTA)   NCBI Sequence Viewer  
  AVX47127 (Get FASTA)   NCBI Sequence Viewer  
  AVX47128 (Get FASTA)   NCBI Sequence Viewer  
  AVX47129 (Get FASTA)   NCBI Sequence Viewer  
  AVX47130 (Get FASTA)   NCBI Sequence Viewer  
  AVX47131 (Get FASTA)   NCBI Sequence Viewer  
  AVX47132 (Get FASTA)   NCBI Sequence Viewer  
  AVX47133 (Get FASTA)   NCBI Sequence Viewer  
  AVX47134 (Get FASTA)   NCBI Sequence Viewer  
  AVX47135 (Get FASTA)   NCBI Sequence Viewer  
  AVX47136 (Get FASTA)   NCBI Sequence Viewer  
  AVX47137 (Get FASTA)   NCBI Sequence Viewer  
  AVX47138 (Get FASTA)   NCBI Sequence Viewer  
  AVX47139 (Get FASTA)   NCBI Sequence Viewer  
  AVX47140 (Get FASTA)   NCBI Sequence Viewer  
  AVX47141 (Get FASTA)   NCBI Sequence Viewer  
  AVX47142 (Get FASTA)   NCBI Sequence Viewer  
  AVX47143 (Get FASTA)   NCBI Sequence Viewer  
  AVX47144 (Get FASTA)   NCBI Sequence Viewer  
  AVX47145 (Get FASTA)   NCBI Sequence Viewer  
  AVX47146 (Get FASTA)   NCBI Sequence Viewer  
  AVX47147 (Get FASTA)   NCBI Sequence Viewer  
  AVX47148 (Get FASTA)   NCBI Sequence Viewer  
  AVX47149 (Get FASTA)   NCBI Sequence Viewer  
  AVX47150 (Get FASTA)   NCBI Sequence Viewer  
  AVX47151 (Get FASTA)   NCBI Sequence Viewer  
  AVX47152 (Get FASTA)   NCBI Sequence Viewer  
  AVX47153 (Get FASTA)   NCBI Sequence Viewer  
  AVX47154 (Get FASTA)   NCBI Sequence Viewer  
  AVX47155 (Get FASTA)   NCBI Sequence Viewer  
  AVX47156 (Get FASTA)   NCBI Sequence Viewer  
  AVX47157 (Get FASTA)   NCBI Sequence Viewer  
  AVX47158 (Get FASTA)   NCBI Sequence Viewer  
  AVX47159 (Get FASTA)   NCBI Sequence Viewer  
  AVX47160 (Get FASTA)   NCBI Sequence Viewer  
  AVX47161 (Get FASTA)   NCBI Sequence Viewer  
  AVX47162 (Get FASTA)   NCBI Sequence Viewer  
  AVX47163 (Get FASTA)   NCBI Sequence Viewer  
  AVX47164 (Get FASTA)   NCBI Sequence Viewer  
  AVX47165 (Get FASTA)   NCBI Sequence Viewer  
  AVX47166 (Get FASTA)   NCBI Sequence Viewer  
  AVX47167 (Get FASTA)   NCBI Sequence Viewer  
  AVX47168 (Get FASTA)   NCBI Sequence Viewer  
  AVX47169 (Get FASTA)   NCBI Sequence Viewer  
  AVX47170 (Get FASTA)   NCBI Sequence Viewer  
  AVX47171 (Get FASTA)   NCBI Sequence Viewer  
  AVX47172 (Get FASTA)   NCBI Sequence Viewer  
  AVX47173 (Get FASTA)   NCBI Sequence Viewer  
  AVX47174 (Get FASTA)   NCBI Sequence Viewer  
  AVX47175 (Get FASTA)   NCBI Sequence Viewer  
  AVX47176 (Get FASTA)   NCBI Sequence Viewer  
  AVX47177 (Get FASTA)   NCBI Sequence Viewer  
  AVX47178 (Get FASTA)   NCBI Sequence Viewer  
  AVX47179 (Get FASTA)   NCBI Sequence Viewer  
  AVX47180 (Get FASTA)   NCBI Sequence Viewer  
  AVX47181 (Get FASTA)   NCBI Sequence Viewer  
  AVX47182 (Get FASTA)   NCBI Sequence Viewer  
  AVX47183 (Get FASTA)   NCBI Sequence Viewer  
  AVX47184 (Get FASTA)   NCBI Sequence Viewer  
  AVX47185 (Get FASTA)   NCBI Sequence Viewer  
  AVX47186 (Get FASTA)   NCBI Sequence Viewer  
  AVX47187 (Get FASTA)   NCBI Sequence Viewer  
  AVX47188 (Get FASTA)   NCBI Sequence Viewer  
  AVX47189 (Get FASTA)   NCBI Sequence Viewer  
  AVX47190 (Get FASTA)   NCBI Sequence Viewer  
  AVX47191 (Get FASTA)   NCBI Sequence Viewer  
  AVX47192 (Get FASTA)   NCBI Sequence Viewer  
  AVX47193 (Get FASTA)   NCBI Sequence Viewer  
  AVX47194 (Get FASTA)   NCBI Sequence Viewer  
  AVX47195 (Get FASTA)   NCBI Sequence Viewer  
  AVX47196 (Get FASTA)   NCBI Sequence Viewer  
  AVX47197 (Get FASTA)   NCBI Sequence Viewer  
  AVX47198 (Get FASTA)   NCBI Sequence Viewer  
  AVX47199 (Get FASTA)   NCBI Sequence Viewer  
  AVX47200 (Get FASTA)   NCBI Sequence Viewer  
  AVX47201 (Get FASTA)   NCBI Sequence Viewer  
  AVX47202 (Get FASTA)   NCBI Sequence Viewer  
  AVX47203 (Get FASTA)   NCBI Sequence Viewer  
  AVX47204 (Get FASTA)   NCBI Sequence Viewer  
  AVX47205 (Get FASTA)   NCBI Sequence Viewer  
  AVX47206 (Get FASTA)   NCBI Sequence Viewer  
  BAG36586 (Get FASTA)   NCBI Sequence Viewer  
  BAG55056 (Get FASTA)   NCBI Sequence Viewer  
  EAW98807 (Get FASTA)   NCBI Sequence Viewer  
  Q9NYK1 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_057646   ⟸   NM_016562
- Peptide Label: precursor
- UniProtKB: Q9NYK1 (UniProtKB/Swiss-Prot),   B2R9N9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000370034   ⟸   ENST00000380659
Protein Domains
TIR

Promoters
RGD ID:6809328
Promoter ID:HG_KWN:66010
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000055769,   OTTHUMT00000055770
Position:
Human AssemblyChrPosition (strand)Source
Build 36X12,794,516 - 12,795,542 (+)MPROMDB
RGD ID:13604746
Promoter ID:EPDNEW_H28557
Type:initiation region
Name:TLR7_1
Description:toll like receptor 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X12,867,072 - 12,867,132EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 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: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 Xp22.31-22.2(chrX:6837101-13719231)x3 copy number gain See cases [RCV000052360] ChrX:6837101..13719231 [GRCh38]
ChrX:6755142..13737350 [GRCh37]
ChrX:6765142..13647271 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:7992018-14435892)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|See cases [RCV000052361] ChrX:7992018..14435892 [GRCh38]
ChrX:7960059..14454014 [GRCh37]
ChrX:7920059..14363935 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2 copy number gain See cases [RCV000052362] ChrX:9038047..16646589 [GRCh38]
ChrX:9006088..16664712 [GRCh37]
ChrX:8966088..16574633 [NCBI36]
ChrX:Xp22.31-22.2
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 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 Xp22.31-22.2(chrX:9540020-13128124)x1 copy number loss See cases [RCV000053057] ChrX:9540020..13128124 [GRCh38]
ChrX:9508060..13146243 [GRCh37]
ChrX:9468060..13056164 [NCBI36]
ChrX:Xp22.31-22.2
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-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 Xp22.33-11.23(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 Xp22.33-11.21(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 Xp22.33-22.2(chrX:3057092-13615172)x1 copy number loss See cases [RCV000053026] ChrX:3057092..13615172 [GRCh38]
ChrX:2975133..13633291 [GRCh37]
ChrX:2985133..13543212 [NCBI36]
ChrX:Xp22.33-22.2
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 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
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 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
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 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:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(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 Xp22.33-22.2(chrX:2936461-17287323)x2 copy number gain See cases [RCV000135895] ChrX:2936461..17287323 [GRCh38]
ChrX:2854502..17305446 [GRCh37]
ChrX:2864502..17215367 [NCBI36]
ChrX:Xp22.33-22.2
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 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 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 Xp22.33-22.2(chrX:10679-16187419)x1 copy number loss See cases [RCV000137252] ChrX:10679..16187419 [GRCh38]
ChrX:60679..16205542 [GRCh37]
ChrX:679..16115463 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
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 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 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 Xp22.31-22.2(chrX:9239101-16721153)x1 copy number loss See cases [RCV000137753] ChrX:9239101..16721153 [GRCh38]
ChrX:9207141..16739276 [GRCh37]
ChrX:9167141..16649197 [NCBI36]
ChrX:Xp22.31-22.2
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 Xp22.33-22.2(chrX:253124-12931344)x1 copy number loss See cases [RCV000138680] ChrX:253124..12931344 [GRCh38]
ChrX:169791..12949463 [GRCh37]
ChrX:109791..12859384 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
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 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 Xp22.33-22.2(chrX:251879-16967290)x1 copy number loss See cases [RCV000142053] ChrX:251879..16967290 [GRCh38]
ChrX:168546..16985413 [GRCh37]
ChrX:108546..16895334 [NCBI36]
ChrX:Xp22.33-22.2
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 Xp22.2-22.12(chrX:12856740-19380317)x2 copy number gain See cases [RCV000143774] ChrX:12856740..19380317 [GRCh38]
ChrX:12874859..19398435 [GRCh37]
ChrX:12784780..19308356 [NCBI36]
ChrX:Xp22.2-22.12
likely pathogenic
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
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
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
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 Xp22.33-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:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [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:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
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 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
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: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:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [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 Xp22.33-11.22(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:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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: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: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 Xp22.33-11.1(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:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2(chrX:11258243-14177713)x1 copy number loss See cases [RCV000448381] ChrX:11258243..14177713 [GRCh37]
ChrX:Xp22.2
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
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 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
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 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
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 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 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 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
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 Xp22.33-22.2(chrX:168546-16404364)x1 copy number loss not provided [RCV000684181] ChrX:168546..16404364 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
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 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
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 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
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:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [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
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely 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: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
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_016562.4(TLR7):c.447C>T (p.Ser149=) single nucleotide variant not provided [RCV000899345] ChrX:12885955 [GRCh38]
ChrX:12904074 [GRCh37]
ChrX:Xp22.2
likely benign
NM_016562.4(TLR7):c.1343C>T (p.Ala448Val) single nucleotide variant not provided [RCV000969338] ChrX:12886851 [GRCh38]
ChrX:12904970 [GRCh37]
ChrX:Xp22.2
benign
NM_016562.4(TLR7):c.655G>A (p.Val219Ile) single nucleotide variant not provided [RCV000967895] ChrX:12886163 [GRCh38]
ChrX:12904282 [GRCh37]
ChrX:Xp22.2
benign
NM_016562.4(TLR7):c.665T>A (p.Val222Asp) single nucleotide variant not provided [RCV000882881] ChrX:12886173 [GRCh38]
ChrX:12904292 [GRCh37]
ChrX:Xp22.2
benign
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 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:2703632-14129100)x2 copy number gain not provided [RCV000847649] ChrX:2703632..14129100 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 copy number loss not provided [RCV001007200] ChrX:168546..17502124 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
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
NM_016562.4(TLR7):c.813G>A (p.Ala271=) single nucleotide variant not provided [RCV000930362] ChrX:12886321 [GRCh38]
ChrX:12904440 [GRCh37]
ChrX:Xp22.2
likely benign
NM_016562.4(TLR7):c.361A>C (p.Arg121=) single nucleotide variant not provided [RCV000887305] ChrX:12885869 [GRCh38]
ChrX:12903988 [GRCh37]
ChrX:Xp22.2
benign
NM_016562.4(TLR7):c.3003C>G (p.Leu1001=) single nucleotide variant not provided [RCV000935363] ChrX:12888511 [GRCh38]
ChrX:12906630 [GRCh37]
ChrX:Xp22.2
likely 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_016562.4(TLR7):c.2129_2132del (p.Gln710fs) deletion Immunodeficiency 74, covid19-related, x-linked [RCV001254821] ChrX:12887637..12887640 [GRCh38]
ChrX:12905756..12905759 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_016562.4(TLR7):c.2383G>T (p.Val795Phe) single nucleotide variant Immunodeficiency 74, covid19-related, x-linked [RCV001254822] ChrX:12887891 [GRCh38]
ChrX:12906010 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.2(chrX:12656082-12975881)x3 copy number gain not provided [RCV001259462] ChrX:12656082..12975881 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:10478359-15357092)x3 copy number gain not provided [RCV001259461] ChrX:10478359..15357092 [GRCh37]
ChrX:Xp22.2
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 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15631 AgrOrtholog
COSMIC TLR7 COSMIC
Ensembl Genes ENSG00000196664 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000370034 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000380659 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.10140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000196664 GTEx
HGNC ID HGNC:15631 ENTREZGENE
Human Proteome Map TLR7 Human Proteome Map
InterPro Cys-rich_flank_reg_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIR_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Toll-like_receptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Toll_tir_struct_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51284 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 51284 ENTREZGENE
OMIM 300365 OMIM
  301051 OMIM
PANTHER PTHR24365 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LRR_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38008 PharmGKB
PROSITE LRR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LRR_TYP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R4P7N7_HUMAN UniProtKB/TrEMBL
  A0A2R4P7Q4_HUMAN UniProtKB/TrEMBL
  A0A2R4P812_HUMAN UniProtKB/TrEMBL
  B2R9N9 ENTREZGENE, UniProtKB/TrEMBL
  D1CS68_HUMAN UniProtKB/TrEMBL
  Q9NYK1 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary D1CS69 UniProtKB/Swiss-Prot
  Q9NR98 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 TLR7  toll like receptor 7    toll-like receptor 7  Symbol and/or name change 5135510 APPROVED
2011-08-16 TLR7  toll-like receptor 7  TLR7  toll-like receptor 7  Symbol and/or name change 5135510 APPROVED