LRRC18 (leucine rich repeat containing 18) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: LRRC18 (leucine rich repeat containing 18) Homo sapiens
Analyze
Symbol: LRRC18
Name: leucine rich repeat containing 18
RGD ID: 1352045
HGNC Page HGNC:23199
Description: Predicted to enable protein serine/threonine phosphatase activity. Predicted to be involved in signal transduction. Predicted to be active in cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: leucine-rich repeat-containing protein 18; MGC34773; UNQ933; UNQ9338; VKGE9338
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381048,909,480 - 48,939,840 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1048,909,480 - 48,939,840 (-)EnsemblGRCh38hg38GRCh38
GRCh371050,117,525 - 50,147,885 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361049,787,534 - 49,792,286 (-)NCBINCBI36Build 36hg18NCBI36
Build 341049,787,536 - 49,792,288NCBI
Celera1043,703,127 - 43,707,879 (-)NCBICelera
Cytogenetic Map10q11.23NCBI
HuRef1044,382,681 - 44,387,433 (-)NCBIHuRef
CHM1_11050,399,155 - 50,403,907 (-)NCBICHM1_1
T2T-CHM13v2.01049,758,686 - 49,789,019 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:12975309   PMID:15489334   PMID:15707978   PMID:16189514   PMID:17207965   PMID:17903303   PMID:19838193   PMID:21873635   PMID:30021884   PMID:32296183   PMID:33686958  
PMID:34373451   PMID:35256949  


Genomics

Comparative Map Data
LRRC18
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381048,909,480 - 48,939,840 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1048,909,480 - 48,939,840 (-)EnsemblGRCh38hg38GRCh38
GRCh371050,117,525 - 50,147,885 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361049,787,534 - 49,792,286 (-)NCBINCBI36Build 36hg18NCBI36
Build 341049,787,536 - 49,792,288NCBI
Celera1043,703,127 - 43,707,879 (-)NCBICelera
Cytogenetic Map10q11.23NCBI
HuRef1044,382,681 - 44,387,433 (-)NCBIHuRef
CHM1_11050,399,155 - 50,403,907 (-)NCBICHM1_1
T2T-CHM13v2.01049,758,686 - 49,789,019 (-)NCBIT2T-CHM13v2.0
Lrrc18
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391432,713,339 - 32,737,257 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1432,713,339 - 32,737,248 (+)EnsemblGRCm39 Ensembl
GRCm381432,991,382 - 33,015,300 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1432,991,382 - 33,015,291 (+)EnsemblGRCm38mm10GRCm38
MGSCv371433,804,568 - 33,828,478 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361431,820,492 - 31,844,384 (+)NCBIMGSCv36mm8
Celera1429,251,093 - 29,275,024 (+)NCBICelera
Cytogenetic Map14BNCBI
cM Map1419.61NCBI
Lrrc18
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8168,259,083 - 8,283,722 (+)NCBIGRCr8
mRatBN7.2168,253,524 - 8,277,141 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl168,254,352 - 8,277,437 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx168,273,142 - 8,291,825 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0169,418,043 - 9,436,726 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0168,266,491 - 8,284,806 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0169,234,341 - 9,258,849 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl169,235,888 - 9,258,538 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01611,196,474 - 11,218,933 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4168,529,683 - 8,554,281 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1168,529,680 - 8,554,277 (+)NCBI
Celera166,928,507 - 6,951,792 (-)NCBICelera
Cytogenetic Map16p16NCBI
Lrrc18
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555561,213,517 - 1,237,275 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555561,213,871 - 1,237,281 (+)NCBIChiLan1.0ChiLan1.0
LRRC18
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2861,174,202 - 61,205,658 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11061,179,521 - 61,210,977 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01045,309,911 - 45,331,912 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
LRRC18
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.128822,579 - 856,329 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl28830,105 - 834,201 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha281,051,350 - 1,084,412 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.028998,365 - 1,031,443 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.128808,202 - 830,558 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.028840,839 - 873,922 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.028963,920 - 996,994 (-)NCBIUU_Cfam_GSD_1.0
Lrrc18
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721380,100,224 - 80,128,753 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367281,326,723 - 1,327,490 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367281,306,756 - 1,327,490 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LRRC18
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1489,571,919 - 89,577,303 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11489,571,911 - 89,589,479 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21497,366,156 - 97,387,555 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LRRC18
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1942,861,868 - 42,887,733 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl942,861,657 - 42,889,270 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660482,629,901 - 2,649,307 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lrrc18
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624928980,389 - 1,004,137 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624928980,324 - 1,004,150 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LRRC18
19 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q11.22-11.23(chr10:48173631-49920071)x3 copy number gain See cases [RCV000051306] Chr10:48173631..49920071 [GRCh38]
Chr10:49381674..51028871 [GRCh37]
Chr10:49051680..50798123 [NCBI36]
Chr10:10q11.22-11.23		 uncertain significance
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3 copy number gain See cases [RCV000051111] Chr10:45999930..49937908 [GRCh38]
Chr10:49201519..52415071 [GRCh37]
Chr10:48871525..52085077 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052319]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052319]|See cases [RCV000052319] Chr10:45999930..49937908 [GRCh38]
Chr10:49430980..52415071 [GRCh37]
Chr10:49100986..52085077 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)x1 copy number loss See cases [RCV000052320] Chr10:45931517..50655311 [GRCh38]
Chr10:49430980..52415071 [GRCh37]
Chr10:49100986..52085077 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1 copy number loss See cases [RCV000052312] Chr10:45710242..50151325 [GRCh38]
Chr10:46205690..51911085 [GRCh37]
Chr10:45525696..51581091 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052314]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052314]|See cases [RCV000052314] Chr10:45931517..49929364 [GRCh38]
Chr10:47006954..51636253 [GRCh37]
Chr10:46404919..51306259 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1 copy number loss See cases [RCV000052317] Chr10:45999930..49937908 [GRCh38]
Chr10:49390075..52518989 [GRCh37]
Chr10:49060081..52188995 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic|uncertain significance
GRCh38/hg38 10q11.21-21.2(chr10:42335305-60284876)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|See cases [RCV000052506] Chr10:42335305..60284876 [GRCh38]
Chr10:42830753..62044634 [GRCh37]
Chr10:42150759..61714640 [NCBI36]
Chr10:10q11.21-21.2		 pathogenic
NM_001006939.3(LRRC18):c.444G>A (p.Glu148=) single nucleotide variant Malignant melanoma [RCV000068952] Chr10:48913712 [GRCh38]
Chr10:50121757 [GRCh37]
Chr10:49791763 [NCBI36]
Chr10:10q11.23		 not provided
GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3 copy number gain See cases [RCV000134381] Chr10:42884294..52265317 [GRCh38]
Chr10:43379742..54025077 [GRCh37]
Chr10:42699748..53695083 [NCBI36]
Chr10:10q11.21-21.1		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss See cases [RCV000134388] Chr10:45931517..49929364 [GRCh38]
Chr10:46491169..51594991 [GRCh37]
Chr10:45911175..51264997 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3 copy number gain See cases [RCV000134846] Chr10:42395201..50877059 [GRCh38]
Chr10:42890649..52636819 [GRCh37]
Chr10:42210655..52306825 [NCBI36]
Chr10:10q11.21-11.23		 pathogenic
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45710248-50021141)x1 copy number loss See cases [RCV000136021] Chr10:45710248..50021141 [GRCh38]
Chr10:46205696..51724915 [GRCh37]
Chr10:45525702..51450907 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:48084228-49929364)x3 copy number gain See cases [RCV000137480] Chr10:48084228..49929364 [GRCh38]
Chr10:49299274..51187662 [GRCh37]
Chr10:48962277..50857668 [NCBI36]
Chr10:10q11.22-11.23		 uncertain significance
GRCh38/hg38 10q11.22-11.23(chr10:45810008-50066466)x1 copy number loss See cases [RCV000137750] Chr10:45810008..50066466 [GRCh38]
Chr10:46476965..51724915 [GRCh37]
Chr10:45625462..51496232 [NCBI36]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1 copy number loss See cases [RCV000139346] Chr10:45999930..49937908 [GRCh38]
Chr10:49002272..52458983 [GRCh37]
Chr10:48357728..52128989 [NCBI36]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss See cases [RCV000139018] Chr10:45931517..49929364 [GRCh38]
Chr10:46491169..51664079 [GRCh37]
Chr10:45911175..51334085 [NCBI36]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1 copy number loss See cases [RCV000138899] Chr10:45931517..49929364 [GRCh38]
Chr10:49002272..51330432 [GRCh37]
Chr10:48395600..51032216 [NCBI36]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45788078-50066466)x1 copy number loss See cases [RCV000140650] Chr10:45788078..50066466 [GRCh38]
Chr10:46476965..51724915 [GRCh37]
Chr10:45603532..51496232 [NCBI36]
Chr10:10q11.22-11.23		 uncertain significance
GRCh38/hg38 10q11.22-11.23(chr10:45931517-50035809)x3 copy number gain See cases [RCV000142314] Chr10:45931517..50035809 [GRCh38]
Chr10:46966533..51795569 [GRCh37]
Chr10:46386539..51465575 [NCBI36]
Chr10:10q11.22-11.23		 uncertain significance
GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3 copy number gain See cases [RCV000142967] Chr10:42112187..67400675 [GRCh38]
Chr10:42607635..69160433 [GRCh37]
Chr10:41927641..68830439 [NCBI36]
Chr10:10q11.21-21.3		 pathogenic
GRCh38/hg38 10q11.22-11.23(chr10:45686812-50151325)x3 copy number gain See cases [RCV000142981] Chr10:45686812..50151325 [GRCh38]
Chr10:46182260..51911085 [GRCh37]
Chr10:45502266..51581091 [NCBI36]
Chr10:10q11.22-11.23		 likely benign
GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1 copy number loss See cases [RCV000142776] Chr10:45710242..49929364 [GRCh38]
Chr10:46205690..51330432 [GRCh37]
Chr10:45525696..51265056 [NCBI36]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49392896-52372011)x3 copy number gain See cases [RCV000449059] Chr10:49392896..52372011 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46491169-51081560)x1 copy number loss See cases [RCV000240024] Chr10:46491169..51081560 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46242057-51595050)x3 copy number gain See cases [RCV000240599] Chr10:46242057..51595050 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
NC_000010.10:g.43611191_61663279inv inversion Pediatric metastatic thyroid tumour [RCV000585841] Chr10:43611191..61663279 [GRCh37]
Chr10:10q11.21-21.2		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46224446-51594991)x1 copy number loss See cases [RCV000449125] Chr10:46224446..51594991 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46210750-51753095)x3 copy number gain See cases [RCV000447295] Chr10:46210750..51753095 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.23(chr10:50015275-50317458)x3 copy number gain See cases [RCV000448117] Chr10:50015275..50317458 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51822386)x1 copy number loss See cases [RCV000510320] Chr10:46966534..51822386 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51848637)x3 copy number gain See cases [RCV000511694] Chr10:46966534..51848637 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x1 copy number loss See cases [RCV000510805] Chr10:46966534..51903756 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 copy number gain See cases [RCV000510893] Chr10:100026..50961640 [GRCh37]
Chr10:10p15.3-q11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903756)x1 copy number loss See cases [RCV000511082] Chr10:46966533..51903756 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49378357-51134640)x1 copy number loss See cases [RCV000510992] Chr10:49378357..51134640 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
NM_001378102.1(LRRC18):c.70A>G (p.Ile24Val) single nucleotide variant not specified [RCV004316042] Chr10:48914086 [GRCh38]
Chr10:50122131 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
GRCh37/hg19 10q11.22-11.23(chr10:49381707-52467180)x3 copy number gain See cases [RCV000512610] Chr10:49381707..52467180 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51891907)x3 copy number gain See cases [RCV000512156] Chr10:46966534..51891907 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46225364-51874356)x1 copy number loss not provided [RCV000683281] Chr10:46225364..51874356 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic|likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1 copy number loss not provided [RCV000683279] Chr10:46966533..51903755 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46287821-51861565)x1 copy number loss not provided [RCV000683280] Chr10:46287821..51861565 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49378356-51113033)x3 copy number gain not provided [RCV000683266] Chr10:49378356..51113033 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51700837)x1 copy number loss not provided [RCV000683276] Chr10:46966533..51700837 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51822386)x3 copy number gain not provided [RCV000683277] Chr10:46966533..51822386 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51874356)x1 copy number loss not provided [RCV000683278] Chr10:46966533..51874356 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic|likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:47049547-51903662)x3 copy number gain not provided [RCV000737103] Chr10:47049547..51903662 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
Single allele duplication Schizophrenia [RCV000754119] Chr10:46157933..50098267 [GRCh38]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.22-21.1(chr10:49390457-60061643)x1 copy number loss not provided [RCV000762699] Chr10:49390457..60061643 [GRCh37]
Chr10:10q11.22-21.1		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48102606-50641752) copy number loss not provided [RCV000767599] Chr10:48102606..50641752 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46544810-51743471) copy number loss not provided [RCV000767657] Chr10:46544810..51743471 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49389565-51122608)x1 copy number loss not provided [RCV001006318] Chr10:49389565..51122608 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:48252674-51830366)x3 copy number gain not provided [RCV000848290] Chr10:48252674..51830366 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51850064)x3 copy number gain not provided [RCV000847823] Chr10:46966533..51850064 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46287086-51830366)x3 copy number gain not provided [RCV000848957] Chr10:46287086..51830366 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1 copy number loss not provided [RCV000847072] Chr10:46966533..51903755 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46235357-51874163)x1 copy number loss not provided [RCV000847130] Chr10:46235357..51874163 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48106368-51250418)x1 copy number loss not provided [RCV000849733] Chr10:48106368..51250418 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49378356-51250418)x1 copy number loss not provided [RCV000845659] Chr10:49378356..51250418 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x3 copy number gain not provided [RCV000846722] Chr10:49378356..52467181 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:47148813-51626260)x3 copy number gain not provided [RCV000845945] Chr10:47148813..51626260 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48252675-51861565)x1 copy number loss not provided [RCV002472619] Chr10:48252675..51861565 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48301535-51807296)x3 copy number gain not provided [RCV001537904] Chr10:48301535..51807296 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46321318-51595050)x1 copy number loss not provided [RCV001249414] Chr10:46321318..51595050 [GRCh37]
Chr10:10q11.22-11.23		 not provided
GRCh37/hg19 10q11.22-11.23(chr10:47132305-51627470)x1 copy number loss not provided [RCV001260090] Chr10:47132305..51627470 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48750425-51386904)x1 copy number loss not provided [RCV001260092] Chr10:48750425..51386904 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46576515-51680164) copy number loss Telangiectasia, hereditary hemorrhagic, type 5 [RCV002280655] Chr10:46576515..51680164 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46964973-51826226) copy number loss 10q11.22q11.23 microdeletion including CHAT and SLC18A3 [RCV001255694] Chr10:46964973..51826226 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
NC_000010.10:g.49033586_52417694del deletion Megacolon [RCV001290060] Chr10:49033586..52417694 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49391938-51053159)x3 copy number gain not provided [RCV001270635] Chr10:49391938..51053159 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:49378356-51134640)x3 copy number gain not provided [RCV001260091] Chr10:49378356..51134640 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49665178-50142153)x4 copy number gain not provided [RCV001260093] Chr10:49665178..50142153 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46966535-51874356)x1 copy number loss not provided [RCV001281356] Chr10:46966535..51874356 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49378357-51134640)x1 copy number loss not provided [RCV001833005] Chr10:49378357..51134640 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46287821-51627470)x1 copy number loss See cases [RCV002293401] Chr10:46287821..51627470 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x1 copy number loss See cases [RCV002286348] Chr10:49378356..52467181 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x3 copy number gain not provided [RCV002472545] Chr10:46966534..51903756 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic|uncertain significance
NM_001378102.1(LRRC18):c.471C>A (p.Asn157Lys) single nucleotide variant not specified [RCV004310954] Chr10:48913685 [GRCh38]
Chr10:50121730 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001378102.1(LRRC18):c.524A>G (p.Lys175Arg) single nucleotide variant not specified [RCV004297693] Chr10:48913632 [GRCh38]
Chr10:50121677 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:46269493-51874356)x1 copy number loss not provided [RCV002474544] Chr10:46269493..51874356 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46966534-51700837)x1 copy number loss not provided [RCV002474530] Chr10:46966534..51700837 [GRCh37]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46584432-51974628)x3 copy number gain not provided [RCV002511649] Chr10:46584432..51974628 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
NM_001378102.1(LRRC18):c.554C>T (p.Ser185Leu) single nucleotide variant not specified [RCV004209953] Chr10:48913602 [GRCh38]
Chr10:50121647 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001378102.1(LRRC18):c.635G>A (p.Arg212Lys) single nucleotide variant not specified [RCV004219465] Chr10:48913521 [GRCh38]
Chr10:50121566 [GRCh37]
Chr10:10q11.23		 likely benign
NM_001378102.1(LRRC18):c.514C>G (p.Leu172Val) single nucleotide variant not specified [RCV004144864] Chr10:48913642 [GRCh38]
Chr10:50121687 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001378102.1(LRRC18):c.79G>A (p.Asp27Asn) single nucleotide variant not specified [RCV004075779] Chr10:48914077 [GRCh38]
Chr10:50122122 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001378102.1(LRRC18):c.189G>C (p.Arg63Ser) single nucleotide variant not specified [RCV004131222] Chr10:48913967 [GRCh38]
Chr10:50122012 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001378102.1(LRRC18):c.744G>T (p.Lys248Asn) single nucleotide variant not specified [RCV004203136] Chr10:48913412 [GRCh38]
Chr10:50121457 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001378102.1(LRRC18):c.442G>A (p.Glu148Lys) single nucleotide variant not specified [RCV004128817] Chr10:48913714 [GRCh38]
Chr10:50121759 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001378102.1(LRRC18):c.490T>C (p.Ser164Pro) single nucleotide variant not specified [RCV004208521] Chr10:48913666 [GRCh38]
Chr10:50121711 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001378102.1(LRRC18):c.142C>A (p.Arg48Ser) single nucleotide variant not specified [RCV004212255] Chr10:48914014 [GRCh38]
Chr10:50122059 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001378102.1(LRRC18):c.770G>A (p.Arg257His) single nucleotide variant not specified [RCV004266390] Chr10:48910253 [GRCh38]
Chr10:50118298 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001378102.1(LRRC18):c.275T>C (p.Ile92Thr) single nucleotide variant not specified [RCV004260851] Chr10:48913881 [GRCh38]
Chr10:50121926 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001378102.1(LRRC18):c.285G>A (p.Met95Ile) single nucleotide variant not specified [RCV004279779] Chr10:48913871 [GRCh38]
Chr10:50121916 [GRCh37]
Chr10:10q11.23		 uncertain significance
NC_000010.11:g.45704708_(49974954_50015268)del deletion 10q11.22q11.23 deletion syndrome [RCV003221322] Chr10:45704708..49974954 [GRCh38]
Chr10:10q11.22-11.23		 likely pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46284269-51870080)x1 copy number loss See cases [RCV003329537] Chr10:46284269..51870080 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
NM_001378102.1(LRRC18):c.589A>C (p.Asn197His) single nucleotide variant not specified [RCV004343361] Chr10:48913567 [GRCh38]
Chr10:50121612 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001378102.1(LRRC18):c.727C>T (p.Pro243Ser) single nucleotide variant not specified [RCV004361773] Chr10:48913429 [GRCh38]
Chr10:50121474 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001378102.1(LRRC18):c.625G>A (p.Ala209Thr) single nucleotide variant not specified [RCV004413325] Chr10:48913531 [GRCh38]
Chr10:50121576 [GRCh37]
Chr10:10q11.23		 uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:48349961-51817663)x3 copy number gain not provided [RCV003484799] Chr10:48349961..51817663 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
NM_001378102.1(LRRC18):c.142C>T (p.Arg48Cys) single nucleotide variant not specified [RCV004413323] Chr10:48914014 [GRCh38]
Chr10:50122059 [GRCh37]
Chr10:10q11.23		 uncertain significance
NM_001378102.1(LRRC18):c.373G>A (p.Ala125Thr) single nucleotide variant not specified [RCV004413324] Chr10:48913783 [GRCh38]
Chr10:50121828 [GRCh37]
Chr10:10q11.23		 likely benign
GRCh37/hg19 10q11.22-11.23(chr10:46975077-51089085)x3 copy number gain See cases [RCV004442779] Chr10:46975077..51089085 [GRCh37]
Chr10:10q11.22-11.23		 uncertain significance
NC_000010.10:g.(?_49383876)_(52383915_?)del deletion Cockayne syndrome type 2 [RCV003885341] Chr10:49383876..52383915 [GRCh37]
Chr10:10q11.22-11.23		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:660
Count of miRNA genes:498
Interacting mature miRNAs:555
Transcripts:ENST00000298124, ENST00000374160
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
High
Medium 2 344 30
Low 120 38 18 2 360 2 421 16 213 17 195 501 1 43 237
Below cutoff 1279 1675 760 243 998 137 2277 899 1666 104 491 546 105 699 1405

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001006939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC035139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC060234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000374160   ⟹   ENSP00000363275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1048,909,480 - 48,939,840 (-)Ensembl
RefSeq Acc Id: NM_001006939   ⟹   NP_001006940
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,909,480 - 48,925,287 (-)NCBI
GRCh371050,117,528 - 50,147,980 (-)NCBI
Build 361049,787,534 - 49,792,286 (-)NCBI Archive
Celera1043,703,127 - 43,707,879 (-)RGD
HuRef1044,382,681 - 44,387,433 (-)RGD
CHM1_11050,399,155 - 50,403,907 (-)NCBI
T2T-CHM13v2.01049,758,686 - 49,774,475 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378102   ⟹   NP_001365031
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,909,480 - 48,939,840 (-)NCBI
T2T-CHM13v2.01049,758,686 - 49,789,019 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539822   ⟹   XP_011538124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,909,480 - 48,939,840 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539823   ⟹   XP_011538125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,909,480 - 48,939,840 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539826   ⟹   XP_011538128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,909,480 - 48,931,173 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539828   ⟹   XP_011538130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,909,480 - 48,925,287 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016276   ⟹   XP_016871765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,909,480 - 48,939,840 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016277   ⟹   XP_016871766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,909,480 - 48,931,173 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054365951   ⟹   XP_054221926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,758,686 - 49,789,019 (-)NCBI
RefSeq Acc Id: XM_054365952   ⟹   XP_054221927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,758,686 - 49,789,019 (-)NCBI
RefSeq Acc Id: XM_054365953   ⟹   XP_054221928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,758,686 - 49,789,019 (-)NCBI
RefSeq Acc Id: XM_054365954   ⟹   XP_054221929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,758,686 - 49,789,019 (-)NCBI
RefSeq Acc Id: XM_054365955   ⟹   XP_054221930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,758,686 - 49,774,475 (-)NCBI
RefSeq Acc Id: XM_054365956   ⟹   XP_054221931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,758,686 - 49,775,887 (-)NCBI
RefSeq Acc Id: XM_054365957   ⟹   XP_054221932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01049,758,686 - 49,775,887 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001006940   ⟸   NM_001006939
- UniProtKB: Q6UY02 (UniProtKB/Swiss-Prot),   Q8N456 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011538125   ⟸   XM_011539823
- Peptide Label: isoform X1
- UniProtKB: Q6UY02 (UniProtKB/Swiss-Prot),   Q8N456 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011538124   ⟸   XM_011539822
- Peptide Label: isoform X1
- UniProtKB: Q6UY02 (UniProtKB/Swiss-Prot),   Q8N456 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011538128   ⟸   XM_011539826
- Peptide Label: isoform X1
- UniProtKB: Q6UY02 (UniProtKB/Swiss-Prot),   Q8N456 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011538130   ⟸   XM_011539828
- Peptide Label: isoform X1
- UniProtKB: Q6UY02 (UniProtKB/Swiss-Prot),   Q8N456 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016871765   ⟸   XM_017016276
- Peptide Label: isoform X1
- UniProtKB: Q6UY02 (UniProtKB/Swiss-Prot),   Q8N456 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016871766   ⟸   XM_017016277
- Peptide Label: isoform X1
- UniProtKB: Q6UY02 (UniProtKB/Swiss-Prot),   Q8N456 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001365031   ⟸   NM_001378102
- UniProtKB: Q8N456 (UniProtKB/Swiss-Prot),   Q6UY02 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000363275   ⟸   ENST00000374160
RefSeq Acc Id: XP_054221927   ⟸   XM_054365952
- Peptide Label: isoform X1
- UniProtKB: Q8N456 (UniProtKB/Swiss-Prot),   Q6UY02 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054221928   ⟸   XM_054365953
- Peptide Label: isoform X1
- UniProtKB: Q8N456 (UniProtKB/Swiss-Prot),   Q6UY02 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054221926   ⟸   XM_054365951
- Peptide Label: isoform X1
- UniProtKB: Q8N456 (UniProtKB/Swiss-Prot),   Q6UY02 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054221929   ⟸   XM_054365954
- Peptide Label: isoform X1
- UniProtKB: Q8N456 (UniProtKB/Swiss-Prot),   Q6UY02 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054221932   ⟸   XM_054365957
- Peptide Label: isoform X1
- UniProtKB: Q8N456 (UniProtKB/Swiss-Prot),   Q6UY02 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054221931   ⟸   XM_054365956
- Peptide Label: isoform X1
- UniProtKB: Q8N456 (UniProtKB/Swiss-Prot),   Q6UY02 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054221930   ⟸   XM_054365955
- Peptide Label: isoform X1
- UniProtKB: Q8N456 (UniProtKB/Swiss-Prot),   Q6UY02 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N456-F1-model_v2 AlphaFold Q8N456 1-261 view protein structure

Promoters
RGD ID:7217501
Promoter ID:EPDNEW_H14496
Type:initiation region
Name:LRRC18_1
Description:leucine rich repeat containing 18
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14497  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,935,208 - 48,935,268EPDNEW
RGD ID:7217503
Promoter ID:EPDNEW_H14497
Type:initiation region
Name:LRRC18_2
Description:leucine rich repeat containing 18
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14496  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381048,939,840 - 48,939,900EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23199 AgrOrtholog
COSMIC LRRC18 COSMIC
Ensembl Genes ENSG00000165383 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000374160 ENTREZGENE
  ENST00000374160.8 UniProtKB/Swiss-Prot
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000165383 GTEx
HGNC ID HGNC:23199 ENTREZGENE
Human Proteome Map LRRC18 Human Proteome Map
InterPro Leu-rich_rpt UniProtKB/Swiss-Prot
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot
  LRR_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:474354 UniProtKB/Swiss-Prot
NCBI Gene 474354 ENTREZGENE
OMIM 619002 OMIM
PANTHER NON-SPECIFIC SERINE/THREONINE PROTEIN KINASE-RELATED UniProtKB/Swiss-Prot
  PTHR48051 UniProtKB/Swiss-Prot
Pfam LRR_8 UniProtKB/Swiss-Prot
PharmGKB PA134898691 PharmGKB
PROSITE LRR UniProtKB/Swiss-Prot
SMART LRR_TYP UniProtKB/Swiss-Prot
Superfamily-SCOP L domain-like UniProtKB/Swiss-Prot
UniProt LRC18_HUMAN UniProtKB/Swiss-Prot
  Q6UY02 ENTREZGENE
  Q8N456 ENTREZGENE
UniProt Secondary Q6UY02 UniProtKB/Swiss-Prot