LRRC69 (leucine rich repeat containing 69) - Rat Genome Database

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Gene: LRRC69 (leucine rich repeat containing 69) Homo sapiens
Analyze
Symbol: LRRC69
Name: leucine rich repeat containing 69
RGD ID: 2293909
HGNC Page HGNC
Description: Predicted to be involved in signal transduction; INTERACTS WITH aflatoxin B1; bisphenol A; dorsomorphin.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: leucine-rich repeat-containing protein 69; MGC104559
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 Ensembl891,101,832 - 91,219,236 (+)EnsemblGRCh38hg38GRCh38
GRCh38891,102,619 - 91,219,257 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37892,114,847 - 92,231,485 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36892,184,066 - 92,206,187 (+)NCBINCBI36hg18NCBI36
Celera888,309,873 - 88,425,524 (+)NCBI
Cytogenetic Map8q21.3NCBI
HuRef887,326,115 - 87,442,725 (+)NCBIHuRef
CHM1_1892,155,463 - 92,272,022 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:21873635   PMID:30561431  


Genomics

Comparative Map Data
LRRC69
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl891,101,832 - 91,219,236 (+)EnsemblGRCh38hg38GRCh38
GRCh38891,102,619 - 91,219,257 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37892,114,847 - 92,231,485 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36892,184,066 - 92,206,187 (+)NCBINCBI36hg18NCBI36
Celera888,309,873 - 88,425,524 (+)NCBI
Cytogenetic Map8q21.3NCBI
HuRef887,326,115 - 87,442,725 (+)NCBIHuRef
CHM1_1892,155,463 - 92,272,022 (+)NCBICHM1_1
Lrrc69
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39414,623,622 - 14,808,379 (-)NCBIGRCm39mm39
GRCm39 Ensembl414,623,620 - 14,796,060 (-)Ensembl
GRCm38414,623,622 - 14,808,379 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl414,623,620 - 14,796,060 (-)EnsemblGRCm38mm10GRCm38
MGSCv37414,592,901 - 14,723,199 (-)NCBIGRCm37mm9NCBIm37
MGSCv36414,592,901 - 14,723,213 (-)NCBImm8
Celera414,458,243 - 14,587,786 (-)NCBICelera
Cytogenetic Map4A1NCBI
Lrrc69
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2528,023,591 - 28,181,963 (-)NCBI
Rnor_6.0 Ensembl528,133,068 - 28,317,943 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0528,133,066 - 28,321,877 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0532,818,530 - 32,872,265 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0532,918,189 - 33,001,959 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4529,037,113 - 29,205,722 (-)NCBIRGSC3.4rn4RGSC3.4
Celera527,284,096 - 27,433,654 (-)NCBICelera
Cytogenetic Map5q13NCBI
Lrrc69
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554177,875,381 - 7,969,767 (+)NCBIChiLan1.0ChiLan1.0
LRRC69
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1889,718,217 - 89,833,391 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl889,718,217 - 89,833,626 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0887,766,051 - 87,880,893 (+)NCBIMhudiblu_PPA_v0panPan3
LRRC69
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12936,499,166 - 36,587,860 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2936,499,246 - 36,587,851 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2936,651,150 - 36,739,831 (+)NCBI
ROS_Cfam_1.02936,700,131 - 36,789,085 (+)NCBI
UMICH_Zoey_3.12936,720,106 - 36,808,756 (+)NCBI
UNSW_CanFamBas_1.02936,701,829 - 36,790,544 (+)NCBI
UU_Cfam_GSD_1.02937,140,517 - 37,229,034 (+)NCBI
Lrrc69
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530342,973,265 - 43,075,732 (-)NCBI
SpeTri2.0NW_0049365444,717,208 - 4,819,194 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC110259107
(Sus scrofa - pig)
No map positions available.
LRRC69
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1886,153,933 - 86,312,001 (+)NCBI
Lrrc69
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624744772,138 - 872,286 (-)NCBI

Position Markers
GDB:624444  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,169,511 - 92,169,722UniSTSGRCh37
GRCh373148,916,154 - 148,916,365UniSTSGRCh37
Build 363150,398,844 - 150,399,055RGDNCBI36
Celera888,363,825 - 88,364,036UniSTS
Celera3147,326,668 - 147,326,879RGD
Cytogenetic Map3q23-q25UniSTS
Cytogenetic Map8q21.3UniSTS
HuRef887,380,749 - 87,380,960UniSTS
HuRef3146,287,438 - 146,287,649UniSTS
GDB:624447  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,169,723 - 92,169,873UniSTSGRCh37
GRCh373148,905,839 - 148,905,989UniSTSGRCh37
Build 363150,388,529 - 150,388,679RGDNCBI36
Celera888,364,037 - 88,364,187UniSTS
Celera3147,316,361 - 147,316,511RGD
Cytogenetic Map3q23-q25UniSTS
Cytogenetic Map8q21.3UniSTS
HuRef887,380,961 - 87,381,112UniSTS
HuRef3146,277,135 - 146,277,285UniSTS
GDB:624453  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,169,874 - 92,170,085UniSTSGRCh37
GRCh373148,903,026 - 148,903,233UniSTSGRCh37
Build 363150,385,716 - 150,385,923RGDNCBI36
Celera888,364,188 - 88,364,399UniSTS
Celera3147,313,548 - 147,313,755RGD
Cytogenetic Map3q23-q25UniSTS
Cytogenetic Map8q21.3UniSTS
HuRef887,381,113 - 87,381,324UniSTS
HuRef3146,274,322 - 146,274,529UniSTS
GDB:624457  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,170,086 - 92,170,225UniSTSGRCh37
GRCh373148,901,253 - 148,901,392UniSTSGRCh37
Build 363150,383,943 - 150,384,082RGDNCBI36
Celera888,364,400 - 88,364,539UniSTS
Celera3147,311,775 - 147,311,914RGD
Cytogenetic Map3q23-q25UniSTS
Cytogenetic Map8q21.3UniSTS
HuRef887,381,325 - 87,381,464UniSTS
HuRef3146,272,546 - 146,272,685UniSTS
GDB:624463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,170,355 - 92,170,461UniSTSGRCh37
GRCh373148,897,343 - 148,897,449UniSTSGRCh37
Build 363150,380,033 - 150,380,139RGDNCBI36
Celera888,364,669 - 88,364,775UniSTS
Celera3147,307,865 - 147,307,971RGD
Cytogenetic Map3q23-q25UniSTS
Cytogenetic Map8q21.3UniSTS
HuRef887,381,594 - 87,381,700UniSTS
HuRef3146,268,634 - 146,268,740UniSTS
GDB:624469  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,170,679 - 92,170,801UniSTSGRCh37
GRCh373148,895,627 - 148,895,766UniSTSGRCh37
Build 363150,378,317 - 150,378,456RGDNCBI36
Celera888,364,993 - 88,365,115UniSTS
Celera3147,306,149 - 147,306,288RGD
Cytogenetic Map3q23-q25UniSTS
Cytogenetic Map8q21.3UniSTS
HuRef887,381,918 - 87,382,040UniSTS
HuRef3146,266,918 - 146,267,057UniSTS
GDB:624472  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,170,802 - 92,170,965UniSTSGRCh37
GRCh373148,894,037 - 148,894,199UniSTSGRCh37
Build 363150,376,727 - 150,376,889RGDNCBI36
Celera888,365,116 - 88,365,279UniSTS
Celera3147,304,559 - 147,304,721RGD
Cytogenetic Map3q23-q25UniSTS
Cytogenetic Map8q21.3UniSTS
HuRef887,382,041 - 87,382,203UniSTS
HuRef3146,265,328 - 146,265,490UniSTS
SHGC-142626  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,127,509 - 92,127,803UniSTSGRCh37
Build 36892,196,685 - 92,196,979RGDNCBI36
Celera888,322,535 - 88,322,829RGD
Cytogenetic Map8q21.3UniSTS
HuRef887,338,777 - 87,339,071UniSTS
SHGC-154077  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,203,295 - 92,203,589UniSTSGRCh37
Build 36892,272,471 - 92,272,765RGDNCBI36
Celera888,397,650 - 88,397,944RGD
Cytogenetic Map8q21.3UniSTS
HuRef887,414,537 - 87,414,831UniSTS
D3S3906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,170,998 - 92,171,204UniSTSGRCh37
GRCh373148,891,278 - 148,891,484UniSTSGRCh37
Build 363150,373,968 - 150,374,174RGDNCBI36
Celera888,365,312 - 88,365,518UniSTS
Celera3147,301,800 - 147,302,006RGD
Cytogenetic Map3q23-q25UniSTS
Cytogenetic Map8q21.3UniSTS
Cytogenetic Map3q24UniSTS
HuRef887,382,237 - 87,382,443UniSTS
HuRef3146,262,569 - 146,262,775UniSTS
Whitehead-YAC Contig Map3 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1378
Count of miRNA genes:784
Interacting mature miRNAs:915
Transcripts:ENST00000343709, ENST00000448384, ENST00000518304, ENST00000518487, ENST00000520099, ENST00000521519, ENST00000522144
Prediction methods: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 entire extraembryonic component
High
Medium 2 4 2
Low 1420 839 1158 310 1083 217 2665 668 905 262 1219 1417 105 713 1539 4
Below cutoff 1010 2109 560 307 826 242 1687 1518 2779 154 224 187 65 491 1246

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000343709   ⟹   ENSP00000343221
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl891,102,645 - 91,219,127 (+)Ensembl
RefSeq Acc Id: ENST00000448384   ⟹   ENSP00000400803
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl891,102,662 - 91,219,000 (+)Ensembl
RefSeq Acc Id: ENST00000518304   ⟹   ENSP00000428285
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl891,101,832 - 91,102,813 (+)Ensembl
RefSeq Acc Id: ENST00000518487
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl891,130,354 - 91,133,364 (+)Ensembl
RefSeq Acc Id: ENST00000520099   ⟹   ENSP00000428537
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl891,102,619 - 91,219,236 (+)Ensembl
RefSeq Acc Id: ENST00000521519
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl891,135,681 - 91,139,195 (+)Ensembl
RefSeq Acc Id: ENST00000522144
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl891,102,721 - 91,124,783 (+)Ensembl
RefSeq Acc Id: NM_001129890   ⟹   NP_001123362
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38891,102,619 - 91,219,236 (+)NCBI
GRCh37892,114,847 - 92,231,473 (+)NCBI
Celera888,309,873 - 88,425,524 (+)RGD
HuRef887,326,115 - 87,442,725 (+)RGD
CHM1_1892,155,463 - 92,272,022 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354470   ⟹   NP_001341399
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38891,102,619 - 91,219,257 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148895
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38891,102,619 - 91,219,257 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001123362 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341399 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAC85448 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43100 (Get FASTA)   NCBI Sequence Viewer  
  EAW91678 (Get FASTA)   NCBI Sequence Viewer  
  Q6ZNQ3 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001123362   ⟸   NM_001129890
- Peptide Label: isoform 1
- UniProtKB: Q6ZNQ3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001341399   ⟸   NM_001354470
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: ENSP00000428285   ⟸   ENST00000518304
RefSeq Acc Id: ENSP00000428537   ⟸   ENST00000520099
RefSeq Acc Id: ENSP00000400803   ⟸   ENST00000448384
RefSeq Acc Id: ENSP00000343221   ⟸   ENST00000343709


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 8q21.2-22.1(chr8:85835757-93610142)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053676]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053676]|See cases [RCV000053676] Chr8:85835757..93610142 [GRCh38]
Chr8:86847986..94622370 [GRCh37]
Chr8:86917086..94691546 [NCBI36]
Chr8:8q21.2-22.1
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 8q21.13-21.3(chr8:77765431-91839285)x1 copy number loss See cases [RCV000054261] Chr8:77765431..91839285 [GRCh38]
Chr8:78677666..92851513 [GRCh37]
Chr8:78840221..92920689 [NCBI36]
Chr8:8q21.13-21.3
pathogenic
GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1 copy number loss See cases [RCV000054262] Chr8:78672463..95366868 [GRCh38]
Chr8:79584698..96379096 [GRCh37]
Chr8:79747253..96448272 [NCBI36]
Chr8:8q21.13-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:90940996-94538343)x1 copy number loss See cases [RCV000054263] Chr8:90940996..94538343 [GRCh38]
Chr8:91953224..95550571 [GRCh37]
Chr8:92022400..95619747 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q21.3(chr8:91103781-91163472)x1 copy number loss See cases [RCV000136257] Chr8:91103781..91163472 [GRCh38]
Chr8:92116009..92175700 [GRCh37]
Chr8:92185185..92244876 [NCBI36]
Chr8:8q21.3
benign
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1
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 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q21.3(chr8:91103751-91132103)x1 copy number loss See cases [RCV000140804] Chr8:91103751..91132103 [GRCh38]
Chr8:92115979..92144331 [GRCh37]
Chr8:92185155..92213507 [NCBI36]
Chr8:8q21.3
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 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 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 8q21.3(chr8:90543310-91144982)x1 copy number loss See cases [RCV000143683] Chr8:90543310..91144982 [GRCh38]
Chr8:91555538..92157210 [GRCh37]
Chr8:91624714..92226386 [NCBI36]
Chr8:8q21.3
likely benign|uncertain significance
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
Single allele deletion Normal pregnancy [RCV000161548] Chr8:91116612..91168986 [GRCh38]
Chr8:92128840..92181214 [GRCh37]
Chr8:8q21.3
not provided
Single allele deletion Normal pregnancy [RCV000161549] Chr8:91116612..91185983 [GRCh38]
Chr8:92128840..92198211 [GRCh37]
Chr8:8q21.3
not provided
Single allele deletion Small for gestational age [RCV000161550] Chr8:91116612..91171430 [GRCh38]
Chr8:92128840..92183658 [GRCh37]
Chr8:8q21.3
not provided
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 8q21.3(chr8:91080027-92129950)x3 copy number gain See cases [RCV000510205] Chr8:91080027..92129950 [GRCh37]
Chr8:8q21.3
uncertain significance
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 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 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
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 8q21.3-22.1(chr8:91914994-93365750)x1 copy number loss not provided [RCV000683011] Chr8:91914994..93365750 [GRCh37]
Chr8:8q21.3-22.1
uncertain significance
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
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 8q21.3(chr8:92107070-92183658)x1 copy number loss not provided [RCV000747711] Chr8:92107070..92183658 [GRCh37]
Chr8:8q21.3
benign
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 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:34303 AgrOrtholog
COSMIC LRRC69 COSMIC
Ensembl Genes ENSG00000214954 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000343221 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000400803 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428285 UniProtKB/TrEMBL
  ENSP00000428537 UniProtKB/TrEMBL
Ensembl Transcript ENST00000343709 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000448384 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000518304 UniProtKB/TrEMBL
  ENST00000520099 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000214954 GTEx
HGNC ID HGNC:34303 ENTREZGENE
Human Proteome Map LRRC69 Human Proteome Map
InterPro Leu-rich_rpt UniProtKB/Swiss-Prot
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:100130742 UniProtKB/Swiss-Prot
NCBI Gene 100130742 ENTREZGENE
Pfam LRR_8 UniProtKB/Swiss-Prot
PharmGKB PA162394619 PharmGKB
PROSITE LRR UniProtKB/Swiss-Prot
SMART LRR_TYP UniProtKB/Swiss-Prot
UniProt E5RHQ9_HUMAN UniProtKB/TrEMBL
  E5RJ66_HUMAN UniProtKB/TrEMBL
  L8E766_HUMAN UniProtKB/TrEMBL
  LRC69_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE