CYSLTR1 (cysteinyl leukotriene receptor 1) - Rat Genome Database

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Gene: CYSLTR1 (cysteinyl leukotriene receptor 1) Homo sapiens
Analyze
Symbol: CYSLTR1
Name: cysteinyl leukotriene receptor 1
RGD ID: 732524
HGNC Page HGNC
Description: Predicted to have G protein-coupled peptide receptor activity and cysteinyl leukotriene receptor activity. Predicted to be involved in neuropeptide signaling pathway. Predicted to localize to integral component of plasma membrane. Implicated in allergic disease; asthma; and rhinitis. Biomarker of asthma; obstructive sleep apnea; and rhinitis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CYSLT1; CYSLT1R; CYSLTR; cysteinyl leukotriene D4 receptor; G-protein coupled receptor HG55; HG55; HMTMF81; LTD4 receptor; MGC46139
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX78,271,468 - 78,327,691 (-)EnsemblGRCh38hg38GRCh38
GRCh38X78,271,468 - 78,327,611 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X77,526,965 - 77,583,108 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X77,414,786 - 77,469,743 (-)NCBINCBI36hg18NCBI36
Build 34X77,334,275 - 77,389,232NCBI
CeleraX77,768,935 - 77,823,895 (-)NCBI
Cytogenetic MapXq21.1NCBI
HuRefX71,107,425 - 71,162,464 (-)NCBIHuRef
CHM1_1X77,420,045 - 77,476,269 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. Beller TC, etal., Proc Natl Acad Sci U S A. 2004 Mar 2;101(9):3047-52. Epub 2004 Feb 17.
2. Bonville CA, etal., Antiviral Res. 2006 Feb;69(2):53-9. Epub 2005 Nov 28.
3. Chao SS, etal., Ann Otol Rhinol Laryngol. 2006 May;115(5):394-7.
4. Chen X, etal., Sichuan Da Xue Xue Bao Yi Xue Ban. 2003 Jul;34(3):555-8.
5. Fullmer JJ, etal., Pediatr Allergy Immunol. 2005 Nov;16(7):593-601.
6. GOA_HUMAN data from the GO Consortium
7. Hao L, etal., Clin Exp Allergy. 2006 Jun;36(6):735-41.
8. Henderson WR Jr, etal., Am J Respir Crit Care Med. 2006 Apr 1;173(7):718-28. Epub 2005 Dec 30.
9. Huang JJ, etal., Zhongguo Dang Dai Er Ke Za Zhi. 2010 Oct;12(10):799-803.
10. Ichinose F, etal., Circ Res. 2001 Apr 27;88(8):832-8.
11. Kaditis AG, etal., Chest. 2008 Aug;134(2):324-31. Epub 2008 May 19.
12. Kim SH, etal., Clin Exp Allergy. 2006 Apr;36(4):433-9.
13. Maekawa A, etal., J Biol Chem 2002 Jun 7;277(23):20820-4. Epub 2002 Apr 3.
14. Matsuyama M, etal., Transplant Proc. 2008 Sep;40(7):2149-51.
15. Okubo K and Baba K, Allergol Int. 2008 Dec;57(4):383-90. Epub 2008 Nov 1.
16. Osman J, etal., Oncotarget. 2017 May 23;8(21):34773-34786. doi: 10.18632/oncotarget.16718.
17. Perez-Novo CA, etal., Respir Res. 2006 May 12;7:75.
18. Piechuta H, etal., Agents Actions. 1987 Oct;22(1-2):69-74.
19. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
20. Ragab S, etal., Clin Exp Allergy. 2001 Sep;31(9):1385-91.
21. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
22. RGD automated import pipeline for gene-chemical interactions
23. Roa J, etal., Immunology. 2007 Nov;122(3):438-44. Epub 2007 Jul 11.
24. Saito H, etal., Immunology. 2004 Oct;113(2):246-52.
25. Sanz C, etal., J Investig Allergol Clin Immunol. 2006;16(6):331-7.
26. Schmitt-Grohe S, etal., Ann Allergy Asthma Immunol. 2002 Dec;89(6):599-605.
27. Sener G, etal., Prostaglandins Other Lipid Mediat. 2007 Jun;83(4):257-67. Epub 2007 Jan 20.
28. Shigematsu M, etal., Sci Rep. 2016 Oct 5;6:34560. doi: 10.1038/srep34560.
29. Spector SL, etal., Am J Respir Crit Care Med. 1994 Sep;150(3):618-23.
30. Venerito M, etal., Cancer Lett. 2008 Nov 8;270(2):218-28. doi: 10.1016/j.canlet.2008.05.015. Epub 2008 Jun 20.
31. Wong WS, etal., Eur J Pharmacol. 2007 Dec 1;575(1-3):134-41. Epub 2007 Jul 24.
32. Yu S, etal., Int J Clin Exp Pathol. 2019 Dec 1;12(12):4242-4252. eCollection 2019.
33. Yuan Y, etal., J Ethnopharmacol. 2013 Oct 7;149(3):701-6. doi: 10.1016/j.jep.2013.07.032. Epub 2013 Aug 9.
34. Zhang J, etal., Pediatr Allergy Immunol. 2006 Jun;17(4):242-9.
35. Zhu J, etal., Am J Respir Cell Mol Biol. 2005 Dec;33(6):531-40. Epub 2005 Aug 25.
Additional References at PubMed
PMID:10391245   PMID:10462554   PMID:11141472   PMID:11322876   PMID:11438743   PMID:11696047   PMID:12100046   PMID:12373000   PMID:12477932   PMID:12512030   PMID:12682264   PMID:12743568  
PMID:12751740   PMID:12751768   PMID:12859443   PMID:14702039   PMID:14749922   PMID:15064240   PMID:15489334   PMID:15590629   PMID:15696087   PMID:15705869   PMID:15772651   PMID:16210619  
PMID:16293801   PMID:16754659   PMID:16809637   PMID:16846449   PMID:17392478   PMID:17406065   PMID:17460547   PMID:17549353   PMID:17558309   PMID:17641958   PMID:17693579   PMID:17703412  
PMID:17883728   PMID:17909024   PMID:17924829   PMID:17941281   PMID:18028998   PMID:18305014   PMID:18323532   PMID:18366797   PMID:18379861   PMID:18651869   PMID:18829683   PMID:19064572  
PMID:19080797   PMID:19131661   PMID:19214143   PMID:19258923   PMID:19450127   PMID:19454674   PMID:19524426   PMID:19733299   PMID:19913121   PMID:20003473   PMID:20433311   PMID:20462748  
PMID:20503287   PMID:20628086   PMID:21203429   PMID:21596548   PMID:21873635   PMID:21936770   PMID:22527886   PMID:22634478   PMID:22871757   PMID:23085741   PMID:23124618   PMID:23181793  
PMID:23822826   PMID:23859232   PMID:23977066   PMID:24162774   PMID:24350867   PMID:25760841   PMID:25918735   PMID:27052782   PMID:27115897   PMID:27221082   PMID:28034578   PMID:28088523  
PMID:29331588   PMID:30248405   PMID:32330496   PMID:32474153   PMID:33077798  


Genomics

Comparative Map Data
CYSLTR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX78,271,468 - 78,327,691 (-)EnsemblGRCh38hg38GRCh38
GRCh38X78,271,468 - 78,327,611 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X77,526,965 - 77,583,108 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X77,414,786 - 77,469,743 (-)NCBINCBI36hg18NCBI36
Build 34X77,334,275 - 77,389,232NCBI
CeleraX77,768,935 - 77,823,895 (-)NCBI
Cytogenetic MapXq21.1NCBI
HuRefX71,107,425 - 71,162,464 (-)NCBIHuRef
CHM1_1X77,420,045 - 77,476,269 (-)NCBICHM1_1
Cysltr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X105,617,952 - 105,647,329 (-)NCBIGRCm39mm39
GRCm39 EnsemblX105,617,952 - 105,647,285 (-)Ensembl
GRCm38X106,576,509 - 106,603,679 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX106,574,346 - 106,603,679 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X103,771,856 - 103,798,801 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X102,779,236 - 102,806,181 (-)NCBImm8
CeleraX93,425,096 - 93,451,782 (-)NCBICelera
Cytogenetic MapXDNCBI
Cysltr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X71,661,415 - 71,690,158 (-)NCBI
Rnor_6.0 EnsemblX77,674,150 - 77,700,269 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X77,671,028 - 77,700,491 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X77,868,476 - 77,895,363 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X94,802,078 - 94,803,097 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X94,875,510 - 94,876,530 (-)NCBI
CeleraX72,975,213 - 72,976,232 (-)NCBICelera
Cytogenetic MapXq22NCBI
Cysltr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555571,667,518 - 1,702,272 (-)NCBIChiLan1.0ChiLan1.0
CYSLTR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X77,523,188 - 77,579,350 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX77,524,455 - 77,525,468 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X67,412,410 - 67,469,366 (-)NCBIMhudiblu_PPA_v0panPan3
CYSLTR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X60,462,290 - 60,513,155 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX60,463,526 - 60,464,548 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX51,475,377 - 51,526,196 (-)NCBI
ROS_Cfam_1.0X61,701,015 - 61,766,649 (-)NCBI
UMICH_Zoey_3.1X59,407,128 - 59,457,919 (-)NCBI
UNSW_CanFamBas_1.0X61,017,129 - 61,067,958 (-)NCBI
UU_Cfam_GSD_1.0X60,605,215 - 60,656,035 (-)NCBI
Cysltr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X54,157,074 - 54,184,386 (-)NCBI
SpeTri2.0NW_004936547479,261 - 504,757 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CYSLTR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX62,380,780 - 62,456,691 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X62,380,778 - 62,407,736 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X71,478,976 - 71,505,912 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CYSLTR1
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Cysltr1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248362,556,269 - 2,597,008 (+)NCBI

Position Markers
CYSLTR1_9181  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,528,016 - 77,528,851UniSTSGRCh37
Build 36X77,414,672 - 77,415,507RGDNCBI36
CeleraX77,768,821 - 77,769,656RGD
AFM328YE9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,576,599 - 77,576,830UniSTSGRCh37
Build 36X77,463,255 - 77,463,486RGDNCBI36
CeleraX77,817,407 - 77,817,638RGD
Cytogenetic MapXq13.2-q21.1UniSTS
HuRefX71,155,484 - 71,155,715UniSTS
D11S2612  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic MapXq13.2-q21.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
D11S1053  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map1p22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic MapXq13.2-q21.1UniSTS
Cytogenetic Map4pUniSTS
Cytogenetic Map6q12UniSTS
D11S2442  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p22.3UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic MapXq13.2-q21.1UniSTS
Cytogenetic Map6q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map14q13.3UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map18q23UniSTS
D11S3270  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map20p12.3UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic MapXq13.2-q21.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map14q23.1UniSTS
D11S3485  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq13.2-q21.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1143
Count of miRNA genes:747
Interacting mature miRNAs:855
Transcripts:ENST00000373304, ENST00000493254
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 432 12 2 275 1 1 430 2 9 10 1
Low 1683 1689 987 315 1548 163 2778 613 974 306 684 1524 163 1166 1450 4
Below cutoff 319 1283 720 293 127 287 1572 1145 2723 111 738 73 9 37 1333 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF119711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF133266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX128495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY242130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ131799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ131800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ131801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ131802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ131803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA738689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000373304   ⟹   ENSP00000362401
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX78,271,468 - 78,327,611 (-)Ensembl
RefSeq Acc Id: ENST00000493254
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX78,318,897 - 78,327,551 (-)Ensembl
RefSeq Acc Id: ENST00000614798   ⟹   ENSP00000478492
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX78,271,480 - 78,327,691 (-)Ensembl
RefSeq Acc Id: NM_001282186   ⟹   NP_001269115
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X78,271,468 - 78,327,611 (-)NCBI
HuRefX71,106,257 - 71,162,565 (-)NCBI
CHM1_1X77,420,045 - 77,476,269 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282187   ⟹   NP_001269116
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X78,271,468 - 78,327,611 (-)NCBI
HuRefX71,106,257 - 71,162,565 (-)NCBI
CHM1_1X77,420,045 - 77,476,269 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282188   ⟹   NP_001269117
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X78,271,468 - 78,327,611 (-)NCBI
HuRefX71,106,257 - 71,162,565 (-)NCBI
CHM1_1X77,420,045 - 77,476,269 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006639   ⟹   NP_006630
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X78,271,468 - 78,327,611 (-)NCBI
GRCh37X77,526,965 - 77,583,193 (-)NCBI
Build 36X77,414,786 - 77,469,743 (-)NCBI Archive
HuRefX71,106,257 - 71,162,565 (-)NCBI
CHM1_1X77,420,045 - 77,476,269 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006630   ⟸   NM_006639
- UniProtKB: Q9Y271 (UniProtKB/Swiss-Prot),   Q38Q88 (UniProtKB/TrEMBL),   Q38Q91 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269116   ⟸   NM_001282187
- UniProtKB: Q9Y271 (UniProtKB/Swiss-Prot),   Q38Q88 (UniProtKB/TrEMBL),   Q38Q91 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269117   ⟸   NM_001282188
- UniProtKB: Q9Y271 (UniProtKB/Swiss-Prot),   Q38Q88 (UniProtKB/TrEMBL),   Q38Q91 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269115   ⟸   NM_001282186
- UniProtKB: Q9Y271 (UniProtKB/Swiss-Prot),   Q38Q88 (UniProtKB/TrEMBL),   Q38Q91 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000362401   ⟸   ENST00000373304
RefSeq Acc Id: ENSP00000478492   ⟸   ENST00000614798

Promoters
RGD ID:6808612
Promoter ID:HG_KWN:67341
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000057315,   OTTHUMT00000057316,   UC010NMA.1,   UC010NMB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X77,469,354 - 77,469,854 (-)MPROMDB
RGD ID:13627514
Promoter ID:EPDNEW_H29032
Type:initiation region
Name:CYSLTR1_1
Description:cysteinyl leukotriene receptor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29033  EPDNEW_H29035  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X78,327,611 - 78,327,671EPDNEW
RGD ID:13627516
Promoter ID:EPDNEW_H29033
Type:initiation region
Name:CYSLTR1_2
Description:cysteinyl leukotriene receptor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29032  EPDNEW_H29035  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X78,327,804 - 78,327,864EPDNEW

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 Xq21.1(chrX:77784830-78691660)x2 copy number gain See cases [RCV000050671] ChrX:77784830..78691660 [GRCh38]
ChrX:77040316..77947157 [GRCh37]
ChrX:76926972..77833813 [NCBI36]
ChrX:Xq21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1(chrX:77829855-78514258)x3 copy number gain See cases [RCV000054212] ChrX:77829855..78514258 [GRCh38]
ChrX:77085352..77769755 [GRCh37]
ChrX:76972008..77656411 [NCBI36]
ChrX:Xq21.1
uncertain significance
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
NM_006639.4(CYSLTR1):c.68del (p.Asn23fs) deletion Malignant tumor of prostate [RCV000149185] ChrX:78273679 [GRCh38]
ChrX:77529176 [GRCh37]
ChrX:Xq21.1
uncertain significance
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-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1
pathogenic
GRCh38/hg38 Xq21.1(chrX:78111751-78408833)x2 copy number gain See cases [RCV000134061] ChrX:78111751..78408833 [GRCh38]
ChrX:77450503..77664330 [GRCh37]
ChrX:77253904..77550986 [NCBI36]
ChrX:Xq21.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xq21.1(chrX:78111751-78286034)x3 copy number gain See cases [RCV000138789] ChrX:78111751..78286034 [GRCh38]
ChrX:77450503..77541531 [GRCh37]
ChrX:77253904..77428187 [NCBI36]
ChrX:Xq21.1
uncertain significance
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 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)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-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 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 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 Xq21.1(chrX:78031438-79093211)x3 copy number gain See cases [RCV000143042] ChrX:78031438..79093211 [GRCh38]
ChrX:77286936..78348708 [GRCh37]
ChrX:77173592..78235364 [NCBI36]
ChrX:Xq21.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [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 Xq13.1-21.1(chrX:71316395-84337550)x3 copy number gain See cases [RCV000447565] ChrX:71316395..84337550 [GRCh37]
ChrX:Xq13.1-21.1
uncertain significance
GRCh37/hg19 Xq21.1(chrX:77577385-77720021)x1 copy number loss See cases [RCV000446901] ChrX:77577385..77720021 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq21.1(chrX:77212971-77537309)x3 copy number gain See cases [RCV000511566] ChrX:77212971..77537309 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
Single allele deletion not provided [RCV000677239] ChrX:78195010..79012636 [GRCh38]
ChrX:77381971..78268131 [GRCh37]
ChrX:Xq21.1
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 Xq21.1(chrX:76820808-78113526)x3 copy number gain not provided [RCV000684349] ChrX:76820808..78113526 [GRCh37]
ChrX:Xq21.1
likely pathogenic
GRCh37/hg19 Xq21.1(chrX:77259796-77537309)x2 copy number gain not provided [RCV000684351] ChrX:77259796..77537309 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xq21.1(chrX:77259796-77537309)x3 copy number gain not provided [RCV000684352] ChrX:77259796..77537309 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xq13.3-21.31(chrX:74667077-90312981)x1 copy number loss not provided [RCV000847338] ChrX:74667077..90312981 [GRCh37]
ChrX:Xq13.3-21.31
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.1(chrX:77514079-78015580)x0 copy number loss not provided [RCV001007317] ChrX:77514079..78015580 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17451 AgrOrtholog
COSMIC CYSLTR1 COSMIC
Ensembl Genes ENSG00000173198 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000362401 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000478492 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000373304 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000614798 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000173198 GTEx
HGNC ID HGNC:17451 ENTREZGENE
Human Proteome Map CYSLTR1 Human Proteome Map
InterPro CLT1_recept UniProtKB/Swiss-Prot
  Cyst_leuk_rcpt UniProtKB/Swiss-Prot
  GPCR_Rhodpsn UniProtKB/Swiss-Prot
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot
KEGG Report hsa:10800 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10800 ENTREZGENE
OMIM 300201 OMIM
Pfam 7tm_1 UniProtKB/Swiss-Prot
PharmGKB CYSLTR1 RGD, PharmGKB
PRINTS CYSLT1RECPTR UniProtKB/Swiss-Prot
  CYSLTRECPTR UniProtKB/Swiss-Prot
  GPCRRHODOPSN UniProtKB/Swiss-Prot
PROSITE G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot
UniProt CLTR1_HUMAN UniProtKB/Swiss-Prot
  Q38Q88 ENTREZGENE, UniProtKB/TrEMBL
  Q38Q91 ENTREZGENE, UniProtKB/TrEMBL
  Q9Y271 ENTREZGENE
UniProt Secondary B2R954 UniProtKB/Swiss-Prot
  D3DTE4 UniProtKB/Swiss-Prot
  Q5JS94 UniProtKB/Swiss-Prot
  Q8IV19 UniProtKB/Swiss-Prot