LYNX1 (Ly6/neurotoxin 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: LYNX1 (Ly6/neurotoxin 1) Homo sapiens
Analyze
Symbol: LYNX1
Name: Ly6/neurotoxin 1
RGD ID: 1604308
HGNC Page HGNC
Description: Exhibits acetylcholine receptor binding activity and acetylcholine receptor regulator activity. Involved in regulation of neurotransmitter receptor activity. Predicted to localize to anchored component of membrane and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: endogenous prototoxin LYNX1; Ly-6 neurotoxin-like protein 1; ly-6/neurotoxin-like protein 1; MGC40364; secreted Ly-6/uPAR domain-containing protein 2; secreted Ly-6/uPAR-related protein 2; Secreted LY6/PLAUR domain-containing protein 2; secreted Ly6/uPAR related protein 2; SLURP-2; SLURP2; testicular tissue protein Li 112
RGD Orthologs
Mouse
Rat
Bonobo
Squirrel
Pig
Green Monkey
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 Ensembl8142,771,197 - 142,777,810 (-)EnsemblGRCh38hg38GRCh38
GRCh388142,771,197 - 142,777,872 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378143,852,615 - 143,859,288 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368143,842,758 - 143,856,642 (-)NCBINCBI36hg18NCBI36
Celera8140,155,485 - 140,169,371 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,097,902 - 139,111,799 (-)NCBIHuRef
CHM1_18143,885,939 - 143,899,416 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:10402197   PMID:10737800   PMID:11906696   PMID:12477932   PMID:12975309   PMID:17089039   PMID:18559515   PMID:19639180   PMID:20379614   PMID:21252236   PMID:21873635  
PMID:23376485   PMID:23585571   PMID:24163370   PMID:25571874   PMID:26025503   PMID:26033490   PMID:27098205   PMID:29206881   PMID:31150435   PMID:31391242  


Genomics

Comparative Map Data
LYNX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8142,771,197 - 142,777,810 (-)EnsemblGRCh38hg38GRCh38
GRCh388142,771,197 - 142,777,872 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378143,852,615 - 143,859,288 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368143,842,758 - 143,856,642 (-)NCBINCBI36hg18NCBI36
Celera8140,155,485 - 140,169,371 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,097,902 - 139,111,799 (-)NCBIHuRef
CHM1_18143,885,939 - 143,899,416 (-)NCBICHM1_1
Lynx1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391574,619,705 - 74,624,828 (-)NCBIGRCm39mm39
GRCm39 Ensembl1574,619,701 - 74,624,895 (-)Ensembl
GRCm381574,747,856 - 74,752,979 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1574,747,852 - 74,753,046 (-)EnsemblGRCm38mm10GRCm38
MGSCv371574,578,286 - 74,583,409 (-)NCBIGRCm37mm9NCBIm37
MGSCv361574,575,111 - 74,580,234 (-)NCBImm8
Celera1576,252,812 - 76,257,935 (-)NCBICelera
Cytogenetic Map15D3NCBI
Lynx1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27106,632,800 - 106,638,003 (-)NCBI
Rnor_6.0 Ensembl7115,982,876 - 115,988,090 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07115,982,877 - 115,988,121 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07115,888,263 - 115,893,505 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47112,862,566 - 112,867,769 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17112,899,790 - 112,901,986 (-)NCBI
Celera7103,033,948 - 103,039,151 (-)NCBICelera
Cytogenetic Map7q34NCBI
LYNX1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18142,526,505 - 142,533,706 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8142,526,506 - 142,533,707 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08139,483,627 - 139,490,722 (-)NCBIMhudiblu_PPA_v0panPan3
Lynx1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053031,683,795 - 1,689,172 (+)NCBI
SpeTri2.0NW_0049364709,109,888 - 9,115,271 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC110260197
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl41,450,147 - 1,455,889 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.141,450,112 - 1,455,000 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
LYNX1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18137,014,986 - 137,026,502 (-)NCBI
ChlSab1.1 Ensembl8137,015,247 - 137,025,381 (-)Ensembl

Position Markers
RH80085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,852,663 - 143,852,862UniSTSGRCh37
Build 368143,849,665 - 143,849,864RGDNCBI36
Celera8140,162,392 - 140,162,591RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,104,809 - 139,105,008UniSTS
GeneMap99-GB4 RH Map8559.14UniSTS
SHGC-145591  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,846,128 - 143,846,271UniSTSGRCh37
Build 368143,843,130 - 143,843,273RGDNCBI36
Celera8140,155,857 - 140,156,000RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,098,274 - 139,098,417UniSTS
TNG Radiation Hybrid Map871026.0UniSTS
RH16413  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,847,553 - 143,847,721UniSTSGRCh37
Build 368143,844,555 - 143,844,723RGDNCBI36
Celera8140,157,282 - 140,157,450RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,099,699 - 139,099,867UniSTS
GeneMap99-GB4 RH Map8549.39UniSTS
WI-19719  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,852,681 - 143,852,972UniSTSGRCh37
Build 368143,849,683 - 143,849,974RGDNCBI36
Celera8140,162,410 - 140,162,701RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,104,827 - 139,105,118UniSTS
GeneMap99-GB4 RH Map8548.36UniSTS
Whitehead-RH Map8714.5UniSTS
LYNX1_2866  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,845,694 - 143,846,186UniSTSGRCh37
Build 368143,842,696 - 143,843,188RGDNCBI36
Celera8140,155,423 - 140,155,915RGD
HuRef8139,097,840 - 139,098,332UniSTS
RH79201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,857,062 - 143,857,425UniSTSGRCh37
Celera8140,166,791 - 140,167,154UniSTS
Cytogenetic Map8q24.3UniSTS
HuRef8139,109,208 - 139,109,571UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8956
Count of miRNA genes:1109
Interacting mature miRNAs:1413
Transcripts:ENST00000317543, ENST00000335822, ENST00000345173, ENST00000395192, ENST00000398906, ENST00000520131, ENST00000521396, ENST00000522906, ENST00000522929, ENST00000523332
Prediction methods:Microtar, Miranda, 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
High
Medium 1622 2109 1254 258 253 171 2790 1262 3493 56 748 962 87 686 1902
Low 593 392 166 130 480 55 1263 863 51 54 364 269 75 518 884
Below cutoff 448 448

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001356370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_177457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_177476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_177477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC083841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF321824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI494395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW449754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF994257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG701653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI603715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM172253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ685632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU683767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB501423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY110957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000522906
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,775,623 - 142,777,263 (-)Ensembl
RefSeq Acc Id: ENST00000613110   ⟹   ENSP00000481790
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,775,266 - 142,777,328 (-)Ensembl
RefSeq Acc Id: ENST00000614268   ⟹   ENSP00000482846
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,775,272 - 142,776,596 (-)Ensembl
RefSeq Acc Id: ENST00000614491   ⟹   ENSP00000477648
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,771,197 - 142,777,328 (-)Ensembl
RefSeq Acc Id: ENST00000620006   ⟹   ENSP00000478402
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,774,923 - 142,777,022 (-)Ensembl
RefSeq Acc Id: ENST00000621401   ⟹   ENSP00000478390
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,771,197 - 142,777,810 (-)Ensembl
RefSeq Acc Id: ENST00000652477   ⟹   ENSP00000498325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,771,202 - 142,777,202 (-)Ensembl
RefSeq Acc Id: NM_001356370   ⟹   NP_001343299
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,771,197 - 142,776,531 (-)NCBI
Sequence:
RefSeq Acc Id: NM_177457   ⟹   NP_803252
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,771,202 - 142,777,872 (-)NCBI
GRCh378143,845,756 - 143,859,640 (-)ENTREZGENE
Build 368143,849,617 - 143,856,642 (-)NCBI Archive
HuRef8139,097,902 - 139,111,799 (-)ENTREZGENE
CHM1_18143,892,806 - 143,899,416 (-)NCBI
Sequence:
RefSeq Acc Id: NM_177476   ⟹   NP_803429
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,771,202 - 142,777,022 (-)NCBI
GRCh378143,845,756 - 143,859,640 (-)ENTREZGENE
Build 368143,849,617 - 143,855,439 (-)NCBI Archive
HuRef8139,097,902 - 139,111,799 (-)ENTREZGENE
CHM1_18143,892,806 - 143,898,631 (-)NCBI
Sequence:
RefSeq Acc Id: NM_177477   ⟹   NP_803430
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,771,202 - 142,777,202 (-)NCBI
GRCh378143,845,756 - 143,859,640 (-)ENTREZGENE
Build 368143,849,617 - 143,855,746 (-)NCBI Archive
HuRef8139,097,902 - 139,111,799 (-)ENTREZGENE
CHM1_18143,892,806 - 143,898,937 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_803252   ⟸   NM_177457
- Peptide Label: precursor
- UniProtKB: P0DP58 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_803430   ⟸   NM_177477
- Peptide Label: precursor
- UniProtKB: P0DP58 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_803429   ⟸   NM_177476
- Peptide Label: precursor
- UniProtKB: P0DP58 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001343299   ⟸   NM_001356370
- Peptide Label: precursor
- Sequence:
RefSeq Acc Id: ENSP00000478402   ⟸   ENST00000620006
RefSeq Acc Id: ENSP00000478390   ⟸   ENST00000621401
RefSeq Acc Id: ENSP00000481790   ⟸   ENST00000613110
RefSeq Acc Id: ENSP00000498325   ⟸   ENST00000652477
RefSeq Acc Id: ENSP00000477648   ⟸   ENST00000614491
RefSeq Acc Id: ENSP00000482846   ⟸   ENST00000614268
Protein Domains
UPAR/Ly6

Promoters
RGD ID:7214307
Promoter ID:EPDNEW_H12900
Type:initiation region
Name:LYNX1_2
Description:Ly6/neurotoxin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12898  EPDNEW_H12901  EPDNEW_H12897  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,777,845 - 142,777,905EPDNEW
RGD ID:6806855
Promoter ID:HG_KWN:62239
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562
Transcripts:NM_177457,   NM_177476,   NM_177477,   UC003YXB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368143,855,436 - 143,856,222 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:142763122-142880038)x3 copy number gain See cases [RCV000140669] Chr8:142763122..142880038 [GRCh38]
Chr8:143844540..143961454 [GRCh37]
Chr8:143841542..143958456 [NCBI36]
Chr8:8q24.3
likely benign
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143762893-143867731)x3 copy number gain See cases [RCV000239918] Chr8:143762893..143867731 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143570920-144459613)x1 copy number loss not provided [RCV001006151] Chr8:143570920..144459613 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142988974-144218537)x3 copy number gain not provided [RCV000846118] Chr8:142988974..144218537 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:143728492-144093928)x3 copy number gain not provided [RCV001006153] Chr8:143728492..144093928 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:143786100-143964656)x3 copy number gain not provided [RCV000849655] Chr8:143786100..143964656 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_177458.3(SLURP2):c.258C>T (p.Ile86=) single nucleotide variant not provided [RCV000925073] Chr8:142764641 [GRCh38]
Chr8:143846059 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29604 AgrOrtholog
COSMIC LYNX1 COSMIC
Ensembl Genes ENSG00000180155 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000477648 UniProtKB/Swiss-Prot
  ENSP00000478390 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000478402 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000481790 UniProtKB/TrEMBL
  ENSP00000482846 UniProtKB/TrEMBL
  ENSP00000498325 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000613110 UniProtKB/TrEMBL
  ENST00000614268 UniProtKB/TrEMBL
  ENST00000614491 UniProtKB/Swiss-Prot
  ENST00000620006 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000621401 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000652477 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000180155 GTEx
HGNC ID HGNC:29604 ENTREZGENE
Human Proteome Map LYNX1 Human Proteome Map
InterPro LY6_UPA_recep-like UniProtKB/Swiss-Prot
  Toxin/TOLIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:111188157 UniProtKB/Swiss-Prot
  hsa:66004 UniProtKB/Swiss-Prot
NCBI Gene 66004 ENTREZGENE
OMIM 606110 OMIM
Pfam Toxin_TOLIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134874147 PharmGKB
SMART SM00134 UniProtKB/Swiss-Prot
UniProt A0A087WYG6_HUMAN UniProtKB/TrEMBL
  A0A087WZS0_HUMAN UniProtKB/TrEMBL
  L8EB58_HUMAN UniProtKB/TrEMBL
  LYNX1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0A140VJN6 UniProtKB/Swiss-Prot
  D3DWI7 UniProtKB/Swiss-Prot
  G3XAC2 UniProtKB/Swiss-Prot
  Q86SR0 UniProtKB/Swiss-Prot
  Q9BZG9 UniProtKB/Swiss-Prot