LPAR6 (lysophosphatidic acid receptor 6) - Rat Genome Database

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Gene: LPAR6 (lysophosphatidic acid receptor 6) Homo sapiens
Analyze
Symbol: LPAR6
Name: lysophosphatidic acid receptor 6
RGD ID: 1349646
HGNC Page HGNC:15520
Description: Predicted to enable lysophosphatidic acid receptor activity. Predicted to be involved in positive regulation of Rho protein signal transduction. Predicted to act upstream of or within blastocyst hatching. Located in plasma membrane. Implicated in hypotrichosis 8.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ARWH1; G-protein coupled purinergic receptor P2Y5; HYPT8; LAH3; LPA receptor 6; LPA-6; MGC120358; oleoyl-L-alpha-lysophosphatidic acid receptor; P2RY5; P2Y purinoceptor 5; P2Y5; purinergic receptor 5; purinergic receptor P2Y G protein-coupled protein 5; purinergic receptor P2Y, G-protein coupled, 5; RB intron encoded G-protein coupled receptor
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
GRCh381348,389,571 - 48,444,669 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1348,389,567 - 48,444,704 (-)EnsemblGRCh38hg38GRCh38
GRCh371348,985,274 - 49,018,805 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361347,883,182 - 47,887,947 (-)NCBINCBI36Build 36hg18NCBI36
Build 341347,883,275 - 47,887,947NCBI
Celera1330,039,912 - 30,073,567 (-)NCBICelera
Cytogenetic Map13q14.2NCBI
HuRef1329,777,751 - 29,810,928 (-)NCBIHuRef
CHM1_11348,952,866 - 48,985,831 (-)NCBICHM1_1
T2T-CHM13v2.01347,609,888 - 47,664,937 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-octadec-9-enoylglycero-3-phosphate  (EXP)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
5-fluorouracil  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
azathioprine  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
Benzo[k]fluoranthene  (ISO)
beta-naphthoflavone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbamazepine  (EXP)
cisplatin  (EXP)
cobalt dichloride  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diuron  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (EXP,ISO)
epoxiconazole  (ISO)
folic acid  (ISO)
furan  (ISO)
gemcitabine  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (ISO)
mercury dibromide  (EXP)
methidathion  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
nickel atom  (EXP)
nickel sulfate  (EXP)
oxaliplatin  (ISO)
ozone  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenformin  (ISO)
phenylmercury acetate  (EXP)
potassium chromate  (EXP)
quercetin  (EXP)
quercitrin  (EXP)
resorcinol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (ISO)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (IEA)
plasma membrane  (IBA,IDA,IEA,TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7902321   PMID:8125298   PMID:8889552   PMID:9240460   PMID:9755289   PMID:10737800   PMID:11004484   PMID:12477932   PMID:14702039   PMID:15057823   PMID:15489334   PMID:15582581  
PMID:16754659   PMID:18240029   PMID:18297070   PMID:18297072   PMID:18461368   PMID:18577758   PMID:18692127   PMID:18803659   PMID:18830268   PMID:19061667   PMID:19292720   PMID:19386608  
PMID:19529952   PMID:21048031   PMID:21426374   PMID:21873635   PMID:22385360   PMID:22531990   PMID:22621192   PMID:23084965   PMID:23773027   PMID:24602016   PMID:25119526   PMID:25589345  
PMID:25849892   PMID:26186194   PMID:27583415   PMID:28425126   PMID:28514442   PMID:29369010   PMID:30567518   PMID:30694446   PMID:31077348   PMID:31914406   PMID:32296183   PMID:32321639  
PMID:33017051   PMID:33961781   PMID:34769557   PMID:36173926   PMID:36724073  


Genomics

Comparative Map Data
LPAR6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381348,389,571 - 48,444,669 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1348,389,567 - 48,444,704 (-)EnsemblGRCh38hg38GRCh38
GRCh371348,985,274 - 49,018,805 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361347,883,182 - 47,887,947 (-)NCBINCBI36Build 36hg18NCBI36
Build 341347,883,275 - 47,887,947NCBI
Celera1330,039,912 - 30,073,567 (-)NCBICelera
Cytogenetic Map13q14.2NCBI
HuRef1329,777,751 - 29,810,928 (-)NCBIHuRef
CHM1_11348,952,866 - 48,985,831 (-)NCBICHM1_1
T2T-CHM13v2.01347,609,888 - 47,664,937 (-)NCBIT2T-CHM13v2.0
Lpar6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391473,475,331 - 73,477,798 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1473,475,335 - 73,480,734 (+)EnsemblGRCm39 Ensembl
GRCm381473,237,891 - 73,240,358 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1473,237,895 - 73,243,294 (+)EnsemblGRCm38mm10GRCm38
MGSCv371473,637,698 - 73,640,165 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361471,972,050 - 71,974,497 (+)NCBIMGSCv36mm8
Celera1470,758,227 - 70,760,692 (+)NCBICelera
Cytogenetic Map14D3NCBI
cM Map1438.75NCBI
Lpar6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81554,826,110 - 54,827,919 (+)NCBIGRCr8
mRatBN7.21548,416,548 - 48,418,357 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1548,416,544 - 48,422,331 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1552,557,397 - 52,559,217 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01553,668,972 - 53,670,792 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01550,514,212 - 50,516,021 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01555,126,953 - 55,128,762 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1555,126,953 - 55,128,761 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01558,850,070 - 58,851,879 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41553,875,463 - 53,877,272 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1548,066,078 - 48,067,887 (+)NCBICelera
Cytogenetic Map15q11NCBI
Lpar6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554312,077,269 - 2,078,300 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554312,077,093 - 2,079,000 (-)NCBIChiLan1.0ChiLan1.0
LPAR6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21449,860,878 - 49,893,160 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11348,511,768 - 48,544,291 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01329,561,219 - 29,567,414 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11348,262,910 - 48,295,264 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1348,263,254 - 48,264,291 (-)Ensemblpanpan1.1panPan2
LPAR6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1223,110,797 - 3,112,973 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl223,111,462 - 3,112,499 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha223,139,671 - 3,141,658 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0223,175,184 - 3,176,372 (+)NCBIROS_Cfam_1.0
Lpar6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945158,204,006 - 158,205,826 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365651,688,314 - 1,689,348 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365651,688,218 - 1,689,876 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LPAR6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1119,219,077 - 19,220,347 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11119,216,305 - 19,220,913 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21119,680,377 - 19,682,665 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LPAR6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1326,332,770 - 26,335,289 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl326,333,023 - 26,334,054 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605717,570,804 - 17,573,633 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lpar6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247486,423,861 - 6,424,892 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247486,423,170 - 6,425,149 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LPAR6
51 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001162498.3(LPAR6):c.587C>T (p.Pro196Leu) single nucleotide variant Hypotrichosis 8 [RCV000023760] Chr13:48411837 [GRCh38]
Chr13:48985973 [GRCh37]
Chr13:13q14.2		 pathogenic|uncertain significance
NM_001162498.3(LPAR6):c.463C>T (p.Gln155Ter) single nucleotide variant Hypotrichosis 8 [RCV000001898] Chr13:48411961 [GRCh38]
Chr13:48986097 [GRCh37]
Chr13:13q14.2		 pathogenic
LPAR6, 2-BP DEL, 373AA deletion Hypotrichosis 8 [RCV000001899] Chr13:13q14.12-q14.2 pathogenic
LPAR6, 4-BP INS, 69CATG insertion Autosomal recessive woolly hair 1, with or without hypotrichosis [RCV000001900]|Hypotrichosis 8 [RCV000023759] Chr13:13q14.12-q14.2 pathogenic
NM_001162498.3(LPAR6):c.562A>T (p.Ile188Phe) single nucleotide variant Hypotrichosis 8 [RCV003234534]|Wooly hair, autosomal recessive 1, with or without hypotrichosis [RCV000001901] Chr13:48411862 [GRCh38]
Chr13:48985998 [GRCh37]
Chr13:13q14.2		 pathogenic|likely pathogenic
NM_001162498.3(LPAR6):c.436G>A (p.Gly146Arg) single nucleotide variant Hypotrichosis 8 [RCV000001902] Chr13:48411988 [GRCh38]
Chr13:48986124 [GRCh37]
Chr13:13q14.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001162498.3(LPAR6):c.565G>A (p.Glu189Lys) single nucleotide variant Hypotrichosis 8 [RCV000001903] Chr13:48411859 [GRCh38]
Chr13:48985995 [GRCh37]
Chr13:13q14.2		 pathogenic|likely pathogenic
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000050293] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3		 pathogenic
GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1 copy number loss See cases [RCV000050891] Chr13:44967523..92738168 [GRCh38]
Chr13:45541658..93390421 [GRCh37]
Chr13:44439658..92188422 [NCBI36]
Chr13:13q14.12-31.3		 pathogenic
GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1 copy number loss See cases [RCV000051373] Chr13:30697728..69471973 [GRCh38]
Chr13:31271865..70046105 [GRCh37]
Chr13:30169865..68944106 [NCBI36]
Chr13:13q12.3-21.33		 pathogenic
GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)x1 copy number loss See cases [RCV000051378] Chr13:43505396..49983668 [GRCh38]
Chr13:44079532..50557804 [GRCh37]
Chr13:42977532..49455805 [NCBI36]
Chr13:13q14.11-14.2		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 copy number gain See cases [RCV000053737] Chr13:30318913..83610426 [GRCh38]
Chr13:30893050..84184561 [GRCh37]
Chr13:29791050..83082562 [NCBI36]
Chr13:13q12.3-31.1		 pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34		 pathogenic
GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1 copy number loss See cases [RCV000133696] Chr13:36777318..62955876 [GRCh38]
Chr13:37351455..63530009 [GRCh37]
Chr13:36249455..62428010 [NCBI36]
Chr13:13q13.3-21.31		 pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3 copy number gain See cases [RCV000133944] Chr13:41288493..85137552 [GRCh38]
Chr13:41862629..85711687 [GRCh37]
Chr13:40760629..84609688 [NCBI36]
Chr13:13q14.11-31.1		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3 copy number gain See cases [RCV000135808] Chr13:31553608..65470367 [GRCh38]
Chr13:32127745..66044499 [GRCh37]
Chr13:31025745..64942500 [NCBI36]
Chr13:13q12.3-21.32		 pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1 copy number loss See cases [RCV000136526] Chr13:41143820..85137552 [GRCh38]
Chr13:41717956..85711687 [GRCh37]
Chr13:40615956..84609688 [NCBI36]
Chr13:13q14.11-31.1		 pathogenic
GRCh38/hg38 13q14.2-14.3(chr13:48307302-50927473)x1 copy number loss See cases [RCV000136624] Chr13:48307302..50927473 [GRCh38]
Chr13:48881438..51501609 [GRCh37]
Chr13:47779439..50399610 [NCBI36]
Chr13:13q14.2-14.3		 pathogenic
GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1 copy number loss See cases [RCV000136647] Chr13:47117587..84300935 [GRCh38]
Chr13:47691722..84875070 [GRCh37]
Chr13:46589723..83773071 [NCBI36]
Chr13:13q14.2-31.1		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1 copy number loss See cases [RCV000138723] Chr13:31018160..48491204 [GRCh38]
Chr13:31592297..49065340 [GRCh37]
Chr13:30490297..47963341 [NCBI36]
Chr13:13q12.3-14.2		 pathogenic
GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 copy number gain See cases [RCV000138339] Chr13:32531486..86757044 [GRCh38]
Chr13:33105623..87409299 [GRCh37]
Chr13:32003623..86207300 [NCBI36]
Chr13:13q13.1-31.1		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1 copy number loss See cases [RCV000140744] Chr13:37864226..67963788 [GRCh38]
Chr13:38438363..68537920 [GRCh37]
Chr13:37336363..67435921 [NCBI36]
Chr13:13q13.3-21.32		 pathogenic
GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1 copy number loss See cases [RCV000140788] Chr13:38514177..51425214 [GRCh38]
Chr13:39088314..51999350 [GRCh37]
Chr13:37986314..50897351 [NCBI36]
Chr13:13q13.3-14.3		 pathogenic
GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1 copy number loss See cases [RCV000142223] Chr13:47765202..62058520 [GRCh38]
Chr13:48339337..62632653 [GRCh37]
Chr13:47237338..61530654 [NCBI36]
Chr13:13q14.2-21.31		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000148244] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34		 pathogenic
NM_001162498.3(LPAR6):c.188A>T (p.Asp63Val) single nucleotide variant Hypotrichosis 8 [RCV000239380] Chr13:48412236 [GRCh38]
Chr13:48986372 [GRCh37]
Chr13:13q14.2		 pathogenic|likely pathogenic
NM_000321.3(RB1):c.1695+29942T>C single nucleotide variant not provided [RCV002283246] Chr13:48411385 [GRCh38]
Chr13:48985521 [GRCh37]
Chr13:13q14.2		 likely benign
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1 copy number loss See cases [RCV000446747] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3		 pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)x1 copy number loss See cases [RCV000446067] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.2-14.3(chr13:48906943-52778614)x1 copy number loss See cases [RCV000448535] Chr13:48906943..52778614 [GRCh37]
Chr13:13q14.2-14.3		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.2-14.3(chr13:47312129-51342279)x1 copy number loss See cases [RCV000511479] Chr13:47312129..51342279 [GRCh37]
Chr13:13q14.2-14.3		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NC_000013.11:g.(?_48303907)_(48480077_?)del deletion Retinoblastoma [RCV000632988] Chr13:48303907..48480077 [GRCh38]
Chr13:48878043..49054213 [GRCh37]
Chr13:13q14.2		 pathogenic
NC_000013.11:g.46968080_87381985del40413906 deletion Chromosome 13q14 deletion syndrome [RCV000721955] Chr13:46968080..87381985 [GRCh38]
Chr13:13q14.2-31.2		 pathogenic
GRCh37/hg19 13q14.2(chr13:48292731-50577868)x3 copy number gain not provided [RCV000683557] Chr13:48292731..50577868 [GRCh37]
Chr13:13q14.2		 uncertain significance
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1		 pathogenic
NC_000013.11:g.(?_48303903)_(48480081_?)del deletion Retinoblastoma [RCV000707957] Chr13:48303903..48480081 [GRCh38]
Chr13:48878039..49054217 [GRCh37]
Chr13:13q14.2		 pathogenic
Single allele deletion Intellectual disability [RCV000684766] Chr13:48225451..58070399 [GRCh37]
Chr13:13q14.2-21.1		 likely pathogenic
NM_001162498.3(LPAR6):c.373_374del (p.Lys125fs) deletion Hypotrichosis 8 [RCV000723282] Chr13:48412050..48412051 [GRCh38]
Chr13:48986186..48986187 [GRCh37]
Chr13:13q14.2		 pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.2(chr13:48806510-49055894)x3 copy number gain not provided [RCV000738187] Chr13:48806510..49055894 [GRCh37]
Chr13:13q14.2		 benign
GRCh37/hg19 13q14.2(chr13:48806510-49065259)x3 copy number gain not provided [RCV000738188] Chr13:48806510..49065259 [GRCh37]
Chr13:13q14.2		 benign
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_001162498.3(LPAR6):c.-473T>C single nucleotide variant not provided [RCV001609961] Chr13:48412896 [GRCh38]
Chr13:48987032 [GRCh37]
Chr13:13q14.2		 benign
NM_001162498.3(LPAR6):c.361_362insGTAT (p.Pro121fs) insertion Retinoblastoma [RCV000989123] Chr13:48412062..48412063 [GRCh38]
Chr13:48986198..48986199 [GRCh37]
Chr13:13q14.2		 benign|uncertain significance
NM_001162498.3(LPAR6):c.354T>G (p.Ile118Met) single nucleotide variant Retinoblastoma [RCV000989126] Chr13:48412070 [GRCh38]
Chr13:48986206 [GRCh37]
Chr13:13q14.2		 benign|uncertain significance
NC_000013.11:g.(?_48037747)_(48480071_?)del deletion Retinoblastoma [RCV001031475] Chr13:48611883..49054207 [GRCh37]
Chr13:13q14.2		 pathogenic
NC_000013.11:g.(?_48303903)_(48465378_?)del deletion Retinoblastoma [RCV001032006] Chr13:48878039..49039514 [GRCh37]
Chr13:13q14.2		 pathogenic
NC_000013.11:g.(?_48303701)_(48412896_?)del deletion Retinoblastoma [RCV001033004] Chr13:48877837..48987032 [GRCh37]
Chr13:13q14.2		 pathogenic
NC_000013.11:g.(?_48303701)_(48480071_?)del deletion Retinoblastoma [RCV001032072] Chr13:48877837..49054207 [GRCh37]
Chr13:13q14.2		 pathogenic
NM_001162498.3(LPAR6):c.819C>A (p.Tyr273Ter) single nucleotide variant Retinoblastoma [RCV000989119] Chr13:48411605 [GRCh38]
Chr13:48985741 [GRCh37]
Chr13:13q14.2		 likely benign
NM_001162498.3(LPAR6):c.368_369insAAAAAAAA (p.Ser124fs) insertion Retinoblastoma [RCV000989121] Chr13:48412055..48412056 [GRCh38]
Chr13:48986191..48986192 [GRCh37]
Chr13:13q14.2		 uncertain significance
GRCh37/hg19 13q14.2(chr13:48817328-49333400)x1 copy number loss not provided [RCV000846283] Chr13:48817328..49333400 [GRCh37]
Chr13:13q14.2		 pathogenic
NM_001162498.3(LPAR6):c.369_370del (p.Lys123fs) deletion Retinoblastoma [RCV000989120] Chr13:48412054..48412055 [GRCh38]
Chr13:48986190..48986191 [GRCh37]
Chr13:13q14.2		 likely benign
NM_001162498.3(LPAR6):c.366T>A (p.Phe122Leu) single nucleotide variant Retinoblastoma [RCV000989122] Chr13:48412058 [GRCh38]
Chr13:48986194 [GRCh37]
Chr13:13q14.2		 benign|uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_001162498.3(LPAR6):c.359del (p.Tyr120fs) deletion Retinoblastoma [RCV000989124] Chr13:48412065 [GRCh38]
Chr13:48986201 [GRCh37]
Chr13:13q14.2		 benign|uncertain significance
NM_001162498.3(LPAR6):c.358T>G (p.Tyr120Asp) single nucleotide variant Retinoblastoma [RCV000989125] Chr13:48412066 [GRCh38]
Chr13:48986202 [GRCh37]
Chr13:13q14.2		 benign|uncertain significance
NM_001162498.3(LPAR6):c.350_352del (p.Ala117_Ile118delinsVal) deletion Retinoblastoma [RCV000989127] Chr13:48412072..48412074 [GRCh38]
Chr13:48986208..48986210 [GRCh37]
Chr13:13q14.2		 benign|uncertain significance
NM_001162498.3(LPAR6):c.347del (p.Leu116fs) deletion Retinoblastoma [RCV000989128] Chr13:48412077 [GRCh38]
Chr13:48986213 [GRCh37]
Chr13:13q14.2		 benign|uncertain significance
NM_001162498.3(LPAR6):c.341_344del (p.Arg114fs) deletion Retinoblastoma [RCV000989129] Chr13:48412080..48412083 [GRCh38]
Chr13:48986216..48986219 [GRCh37]
Chr13:13q14.2		 benign|uncertain significance
NM_001162498.3(LPAR6):c.8G>C (p.Ser3Thr) single nucleotide variant Hypotrichosis 8 [RCV003234609] Chr13:48412416 [GRCh38]
Chr13:48986552 [GRCh37]
Chr13:13q14.2		 uncertain significance
NC_000013.10:g.(?_48517506)_(49070513_?)dup duplication Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria [RCV003107763]|not provided [RCV003107764] Chr13:48517506..49070513 [GRCh37]
Chr13:13q14.2		 uncertain significance|no classifications from unflagged records
NM_001162498.3(LPAR6):c.921G>T (p.Trp307Cys) single nucleotide variant Retinoblastoma [RCV000989118]|not provided [RCV000954285]|not specified [RCV003320482] Chr13:48411503 [GRCh38]
Chr13:48985639 [GRCh37]
Chr13:13q14.2		 benign|likely benign|uncertain significance
NM_001162498.3(LPAR6):c.801A>C (p.Ala267=) single nucleotide variant not provided [RCV000961071] Chr13:48411623 [GRCh38]
Chr13:48985759 [GRCh37]
Chr13:13q14.2		 likely benign
NM_000321.3(RB1):c.1695+30396A>G single nucleotide variant not provided [RCV000948919] Chr13:48411839 [GRCh38]
Chr13:48985975 [GRCh37]
Chr13:13q14.2		 benign|likely benign
NM_001162498.3(LPAR6):c.174C>T (p.Asn58=) single nucleotide variant not provided [RCV000974392] Chr13:48412250 [GRCh38]
Chr13:48986386 [GRCh37]
Chr13:13q14.2		 likely benign
NM_001162498.3(LPAR6):c.*86C>A single nucleotide variant not provided [RCV001621495] Chr13:48411303 [GRCh38]
Chr13:48985439 [GRCh37]
Chr13:13q14.2		 benign
NC_000013.11:g.(?_48379574)_(48480071_?)del deletion Retinoblastoma [RCV001033014] Chr13:48953710..49054207 [GRCh37]
Chr13:13q14.2		 pathogenic
NC_000013.11:g.(?_48040910)_(48480071_?)del deletion Retinoblastoma [RCV001033135] Chr13:48615046..49054207 [GRCh37]
Chr13:13q14.2		 pathogenic
NC_000013.11:g.(?_48302747)_(48482890_?)del deletion Retinoblastoma [RCV001031865] Chr13:48876883..49057026 [GRCh37]
Chr13:13q14.2		 pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q14.12-14.3(chr13:45487628-52639336)x3 copy number gain not provided [RCV001258545] Chr13:45487628..52639336 [GRCh37]
Chr13:13q14.12-14.3		 likely pathogenic
NC_000013.10:g.(?_48611883)_(49054207_?)dup duplication Retinoblastoma [RCV001350853] Chr13:48611883..49054207 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001162498.3(LPAR6):c.991_992dup (p.Gln331fs) duplication Hypotrichosis 8 [RCV001332669] Chr13:48411431..48411432 [GRCh38]
Chr13:48985567..48985568 [GRCh37]
Chr13:13q14.2		 pathogenic
NC_000013.10:g.(?_48985727)_(49039514_?)dup duplication Retinoblastoma [RCV001383354] Chr13:48985727..49039514 [GRCh37]
Chr13:13q14.2		 pathogenic
NM_001162498.3(LPAR6):c.537del (p.Tyr180fs) deletion Hypotrichosis 8 [RCV001292814] Chr13:48411887 [GRCh38]
Chr13:48986023 [GRCh37]
Chr13:13q14.2		 pathogenic
NC_000013.10:g.(?_48877851)_(49054207_?)del deletion Retinoblastoma [RCV001383149] Chr13:48877851..49054207 [GRCh37]
Chr13:13q14.2		 pathogenic
NM_001162498.3(LPAR6):c.107G>A (p.Cys36Tyr) single nucleotide variant Hypotrichosis 8 [RCV002272864] Chr13:48412317 [GRCh38]
Chr13:48986453 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001162498.3(LPAR6):c.66_69dup (p.Phe24fs) duplication Hypotrichosis 8 [RCV001783609]|Wooly hair, autosomal recessive 1, with or without hypotrichosis [RCV002273832]|not provided [RCV001823308] Chr13:48412354..48412355 [GRCh38]
Chr13:48986490..48986491 [GRCh37]
Chr13:13q14.2		 pathogenic
NM_000321.3(RB1):c.1696-30191del deletion not specified [RCV001733773] Chr13:48422793 [GRCh38]
Chr13:48996929 [GRCh37]
Chr13:13q14.2		 benign
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)x1 copy number loss not provided [RCV001795546] Chr13:45819046..63910212 [GRCh37]
Chr13:13q14.13-21.31		 pathogenic
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 copy number gain not provided [RCV001829235] Chr13:42504540..108206269 [GRCh37]
Chr13:13q14.11-33.3		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698) copy number loss not specified [RCV002053057] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217) copy number loss not specified [RCV002053048] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31		 pathogenic
NC_000013.10:g.(?_48517506)_(49070513_?)del deletion Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria [RCV001953749] Chr13:48517506..49070513 [GRCh37]
Chr13:13q14.2		 pathogenic
GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753) copy number loss not specified [RCV002053052] Chr13:36376204..80681753 [GRCh37]
Chr13:13q13.3-31.1		 pathogenic
GRCh37/hg19 13q14.11-14.3(chr13:44573371-53324137) copy number loss not specified [RCV002053058] Chr13:44573371..53324137 [GRCh37]
Chr13:13q14.11-14.3		 pathogenic
NC_000013.10:g.(?_48916665)_(49070513_?)del deletion Retinoblastoma [RCV001958794] Chr13:48916665..49070513 [GRCh37]
Chr13:13q14.2		 pathogenic
NC_000013.10:g.(?_48877837)_(48986401_?)del deletion Retinoblastoma [RCV001939608] Chr13:48877837..48986401 [GRCh37]
Chr13:13q14.2		 pathogenic
NM_001162498.3(LPAR6):c.1A>G (p.Met1Val) single nucleotide variant Hypotrichosis 8 [RCV002250094] Chr13:48412423 [GRCh38]
Chr13:48986559 [GRCh37]
Chr13:13q14.2		 pathogenic
NM_001162498.3(LPAR6):c.830T>C (p.Leu277Pro) single nucleotide variant Hypotrichosis 8 [RCV003234611] Chr13:48411594 [GRCh38]
Chr13:48985730 [GRCh37]
Chr13:13q14.2		 likely pathogenic
NM_001162498.3(LPAR6):c.833G>A (p.Cys278Tyr) single nucleotide variant Hypotrichosis 8 [RCV003234612] Chr13:48411591 [GRCh38]
Chr13:48985727 [GRCh37]
Chr13:13q14.2		 likely pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_001162498.3(LPAR6):c.145C>T (p.Arg49Ter) single nucleotide variant Hypotrichosis 8 [RCV003237403] Chr13:48412279 [GRCh38]
Chr13:48986415 [GRCh37]
Chr13:13q14.2		 pathogenic
NM_001162498.3(LPAR6):c.207_210dup (p.Pro71fs) duplication Hypotrichosis 8 [RCV002465046] Chr13:48412213..48412214 [GRCh38]
Chr13:48986349..48986350 [GRCh37]
Chr13:13q14.2		 pathogenic
NM_001162498.3(LPAR6):c.626A>G (p.Lys209Arg) single nucleotide variant Inborn genetic diseases [RCV003264533] Chr13:48411798 [GRCh38]
Chr13:48985934 [GRCh37]
Chr13:13q14.2		 likely benign
NM_001162498.3(LPAR6):c.742A>T (p.Asn248Tyr) single nucleotide variant Hypotrichosis 8 [RCV003234610] Chr13:48411682 [GRCh38]
Chr13:48985818 [GRCh37]
Chr13:13q14.2		 likely pathogenic
NM_000321.3(RB1):c.1695+34353G>A single nucleotide variant not provided [RCV002511757] Chr13:48415796 [GRCh38]
Chr13:48989932 [GRCh37]
Chr13:13q14.2		 likely benign
NM_001162498.3(LPAR6):c.571G>C (p.Val191Leu) single nucleotide variant Inborn genetic diseases [RCV002754727] Chr13:48411853 [GRCh38]
Chr13:48985989 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001162498.3(LPAR6):c.285G>C (p.Leu95=) single nucleotide variant not provided [RCV002686385] Chr13:48412139 [GRCh38]
Chr13:48986275 [GRCh37]
Chr13:13q14.2		 likely benign
NM_001162498.3(LPAR6):c.709A>G (p.Ile237Val) single nucleotide variant Inborn genetic diseases [RCV002839597] Chr13:48411715 [GRCh38]
Chr13:48985851 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001162498.3(LPAR6):c.31T>C (p.Tyr11His) single nucleotide variant Inborn genetic diseases [RCV002969526] Chr13:48412393 [GRCh38]
Chr13:48986529 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001162498.3(LPAR6):c.456T>G (p.Val152=) single nucleotide variant not provided [RCV002511756] Chr13:48411968 [GRCh38]
Chr13:48986104 [GRCh37]
Chr13:13q14.2		 likely benign
NM_001162498.3(LPAR6):c.353T>G (p.Ile118Ser) single nucleotide variant Inborn genetic diseases [RCV002910611] Chr13:48412071 [GRCh38]
Chr13:48986207 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001162498.3(LPAR6):c.451G>A (p.Ala151Thr) single nucleotide variant not provided [RCV003077978] Chr13:48411973 [GRCh38]
Chr13:48986109 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001162498.3(LPAR6):c.238C>T (p.Arg80Trp) single nucleotide variant not provided [RCV002590871] Chr13:48412186 [GRCh38]
Chr13:48986322 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001162498.3(LPAR6):c.83T>C (p.Phe28Ser) single nucleotide variant Inborn genetic diseases [RCV002660154] Chr13:48412341 [GRCh38]
Chr13:48986477 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001162498.3(LPAR6):c.500C>T (p.Ala167Val) single nucleotide variant not provided [RCV003037545] Chr13:48411924 [GRCh38]
Chr13:48986060 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001162498.3(LPAR6):c.402G>C (p.Lys134Asn) single nucleotide variant Inborn genetic diseases [RCV002764292] Chr13:48412022 [GRCh38]
Chr13:48986158 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001162498.3(LPAR6):c.815T>C (p.Met272Thr) single nucleotide variant Inborn genetic diseases [RCV002652117] Chr13:48411609 [GRCh38]
Chr13:48985745 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001162498.3(LPAR6):c.104A>G (p.Asn35Ser) single nucleotide variant Inborn genetic diseases [RCV002831117] Chr13:48412320 [GRCh38]
Chr13:48986456 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001162498.3(LPAR6):c.697G>A (p.Val233Ile) single nucleotide variant Inborn genetic diseases [RCV002832122] Chr13:48411727 [GRCh38]
Chr13:48985863 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001162498.3(LPAR6):c.707T>C (p.Ile236Thr) single nucleotide variant Inborn genetic diseases [RCV002831881] Chr13:48411717 [GRCh38]
Chr13:48985853 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001162498.3(LPAR6):c.540T>C (p.Tyr180=) single nucleotide variant not provided [RCV003393314] Chr13:48411884 [GRCh38]
Chr13:48986020 [GRCh37]
Chr13:13q14.2		 likely benign
NM_001162498.3(LPAR6):c.728T>C (p.Val243Ala) single nucleotide variant Inborn genetic diseases [RCV003212921] Chr13:48411696 [GRCh38]
Chr13:48985832 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001162498.3(LPAR6):c.474C>A (p.His158Gln) single nucleotide variant Inborn genetic diseases [RCV003197502] Chr13:48411950 [GRCh38]
Chr13:48986086 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001162498.3(LPAR6):c.794T>C (p.Val265Ala) single nucleotide variant Inborn genetic diseases [RCV003218314] Chr13:48411630 [GRCh38]
Chr13:48985766 [GRCh37]
Chr13:13q14.2		 likely benign
NM_001162498.3(LPAR6):c.132C>T (p.Cys44=) single nucleotide variant not provided [RCV003874094] Chr13:48412292 [GRCh38]
Chr13:48986428 [GRCh37]
Chr13:13q14.2		 likely benign
NM_001162498.3(LPAR6):c.370_375del (p.Ser124_Lys125del) deletion not provided [RCV003730738] Chr13:48412049..48412054 [GRCh38]
Chr13:48986185..48986190 [GRCh37]
Chr13:13q14.2		 likely benign
NM_001162498.3(LPAR6):c.756T>C (p.Tyr252=) single nucleotide variant LPAR6-related condition [RCV003939465] Chr13:48411668 [GRCh38]
Chr13:48985804 [GRCh37]
Chr13:13q14.2		 likely benign
GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1 copy number loss not specified [RCV003987012] Chr13:44076923..60520078 [GRCh37]
Chr13:13q14.11-21.2		 pathogenic
GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3 copy number gain not specified [RCV003987040] Chr13:35015723..59553519 [GRCh37]
Chr13:13q13.2-21.1		 pathogenic
GRCh37/hg19 13q14.2(chr13:48898277-49022711)x3 copy number gain not specified [RCV003987010] Chr13:48898277..49022711 [GRCh37]
Chr13:13q14.2		 uncertain significance
GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1 copy number loss not provided [RCV003885457] Chr13:34884647..61309742 [GRCh37]
Chr13:13q13.2-21.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:626
Count of miRNA genes:267
Interacting mature miRNAs:274
Transcripts:ENST00000345941, ENST00000378434, ENST00000462781, ENST00000464486, ENST00000465365, ENST00000470937, ENST00000481832, ENST00000482024
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.

Markers in Region
RH17879  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371348,985,304 - 48,985,506UniSTSGRCh37
Build 361347,883,305 - 47,883,507RGDNCBI36
Celera1330,040,035 - 30,040,237RGD
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q14.2UniSTS
HuRef1329,777,874 - 29,778,076UniSTS
GeneMap99-GB4 RH Map13147.92UniSTS
UniSTS:484469  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371348,985,297 - 48,986,768UniSTSGRCh37
Celera1330,040,028 - 30,041,499UniSTS
HuRef1329,777,867 - 29,779,338UniSTS


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 visual system adipose tissue appendage entire extraembryonic component
High
Medium 977 1292 1238 291 874 130 2762 411 1160 256 1181 1337 162 1173 1553 2
Low 1390 1680 469 323 935 324 1588 1750 2509 146 212 123 9 31 1235 1
Below cutoff 44 14 12 7 88 8 6 12 46 12 39 92 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_012874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001162497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001162498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF000546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF551763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL392048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC054346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF950635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF951153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ006077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ995530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JF810890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L78805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000345941   ⟹   ENSP00000344353
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1348,411,139 - 48,426,907 (-)Ensembl
RefSeq Acc Id: ENST00000378434   ⟹   ENSP00000367691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1348,411,045 - 48,444,704 (-)Ensembl
RefSeq Acc Id: ENST00000462781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1348,389,571 - 48,415,813 (-)Ensembl
RefSeq Acc Id: ENST00000464486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1348,389,571 - 48,391,531 (-)Ensembl
RefSeq Acc Id: ENST00000465365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1348,389,567 - 48,444,667 (-)Ensembl
RefSeq Acc Id: ENST00000470937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1348,389,571 - 48,415,816 (-)Ensembl
RefSeq Acc Id: ENST00000481832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1348,389,571 - 48,406,709 (-)Ensembl
RefSeq Acc Id: ENST00000482024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1348,411,741 - 48,412,489 (-)Ensembl
RefSeq Acc Id: ENST00000620633   ⟹   ENSP00000482660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1348,411,138 - 48,413,113 (-)Ensembl
RefSeq Acc Id: NM_001162497   ⟹   NP_001155969
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381348,411,138 - 48,426,908 (-)NCBI
GRCh371348,985,181 - 49,018,840 (-)ENTREZGENE
HuRef1329,777,751 - 29,810,928 (-)ENTREZGENE
CHM1_11348,952,866 - 48,968,724 (-)NCBI
T2T-CHM13v2.01347,631,459 - 47,647,229 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001162498   ⟹   NP_001155970
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381348,411,138 - 48,413,113 (-)NCBI
GRCh371348,985,181 - 49,018,840 (-)ENTREZGENE
HuRef1329,777,751 - 29,810,928 (-)ENTREZGENE
CHM1_11348,952,866 - 48,955,338 (-)NCBI
T2T-CHM13v2.01347,631,459 - 47,633,434 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377316   ⟹   NP_001364245
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381348,411,138 - 48,426,908 (-)NCBI
T2T-CHM13v2.01347,631,459 - 47,647,229 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377317   ⟹   NP_001364246
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381348,411,138 - 48,426,908 (-)NCBI
T2T-CHM13v2.01347,631,459 - 47,647,229 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005767   ⟹   NP_005758
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381348,411,138 - 48,444,669 (-)NCBI
GRCh371348,985,181 - 49,018,840 (-)ENTREZGENE
Build 361347,883,182 - 47,887,947 (-)NCBI Archive
HuRef1329,777,751 - 29,810,928 (-)ENTREZGENE
CHM1_11348,952,866 - 48,985,831 (-)NCBI
T2T-CHM13v2.01347,631,459 - 47,664,937 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047430019   ⟹   XP_047285975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381348,411,138 - 48,444,669 (-)NCBI
RefSeq Acc Id: XM_047430020   ⟹   XP_047285976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381348,411,138 - 48,444,669 (-)NCBI
RefSeq Acc Id: XM_047430021   ⟹   XP_047285977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381348,411,138 - 48,444,669 (-)NCBI
RefSeq Acc Id: XM_047430022   ⟹   XP_047285978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381348,411,138 - 48,444,669 (-)NCBI
RefSeq Acc Id: XM_047430023   ⟹   XP_047285979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381348,389,571 - 48,416,572 (-)NCBI
RefSeq Acc Id: XM_047430024   ⟹   XP_047285980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381348,389,571 - 48,439,698 (-)NCBI
RefSeq Acc Id: XM_054373987   ⟹   XP_054229962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01347,609,888 - 47,636,893 (-)NCBI
RefSeq Acc Id: XM_054373988   ⟹   XP_054229963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01347,609,888 - 47,659,966 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001155969 (Get FASTA)   NCBI Sequence Viewer  
  NP_001155970 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364245 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364246 (Get FASTA)   NCBI Sequence Viewer  
  NP_005758 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285975 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285976 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285977 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285978 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285979 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285980 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229962 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229963 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB62190 (Get FASTA)   NCBI Sequence Viewer  
  AAH40850 (Get FASTA)   NCBI Sequence Viewer  
  AAH45651 (Get FASTA)   NCBI Sequence Viewer  
  AAH70295 (Get FASTA)   NCBI Sequence Viewer  
  AAI06757 (Get FASTA)   NCBI Sequence Viewer  
  AAL40065 (Get FASTA)   NCBI Sequence Viewer  
  AAN64134 (Get FASTA)   NCBI Sequence Viewer  
  ADZ31975 (Get FASTA)   NCBI Sequence Viewer  
  AEP43757 (Get FASTA)   NCBI Sequence Viewer  
  BAD97109 (Get FASTA)   NCBI Sequence Viewer  
  BAG53764 (Get FASTA)   NCBI Sequence Viewer  
  BAG53867 (Get FASTA)   NCBI Sequence Viewer  
  CAD97634 (Get FASTA)   NCBI Sequence Viewer  
  CAD97680 (Get FASTA)   NCBI Sequence Viewer  
  CAD97687 (Get FASTA)   NCBI Sequence Viewer  
  EAX08796 (Get FASTA)   NCBI Sequence Viewer  
  EAX08797 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000344353
  ENSP00000344353.2
  ENSP00000367691
  ENSP00000367691.3
  ENSP00000482660
  ENSP00000482660.1
GenBank Protein P43657 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_005758   ⟸   NM_005767
- UniProtKB: Q7Z3S0 (UniProtKB/Swiss-Prot),   Q5VW44 (UniProtKB/Swiss-Prot),   Q53FA0 (UniProtKB/Swiss-Prot),   Q3KPF5 (UniProtKB/Swiss-Prot),   O15133 (UniProtKB/Swiss-Prot),   F2YGU4 (UniProtKB/Swiss-Prot),   B3KVF2 (UniProtKB/Swiss-Prot),   A4FTW9 (UniProtKB/Swiss-Prot),   Q7Z3S6 (UniProtKB/Swiss-Prot),   P43657 (UniProtKB/Swiss-Prot),   B3KVQ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001155969   ⟸   NM_001162497
- UniProtKB: Q7Z3S0 (UniProtKB/Swiss-Prot),   Q5VW44 (UniProtKB/Swiss-Prot),   Q53FA0 (UniProtKB/Swiss-Prot),   Q3KPF5 (UniProtKB/Swiss-Prot),   O15133 (UniProtKB/Swiss-Prot),   F2YGU4 (UniProtKB/Swiss-Prot),   B3KVF2 (UniProtKB/Swiss-Prot),   A4FTW9 (UniProtKB/Swiss-Prot),   Q7Z3S6 (UniProtKB/Swiss-Prot),   P43657 (UniProtKB/Swiss-Prot),   B3KVQ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001155970   ⟸   NM_001162498
- UniProtKB: Q7Z3S0 (UniProtKB/Swiss-Prot),   Q5VW44 (UniProtKB/Swiss-Prot),   Q53FA0 (UniProtKB/Swiss-Prot),   Q3KPF5 (UniProtKB/Swiss-Prot),   O15133 (UniProtKB/Swiss-Prot),   F2YGU4 (UniProtKB/Swiss-Prot),   B3KVF2 (UniProtKB/Swiss-Prot),   A4FTW9 (UniProtKB/Swiss-Prot),   Q7Z3S6 (UniProtKB/Swiss-Prot),   P43657 (UniProtKB/Swiss-Prot),   B3KVQ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001364246   ⟸   NM_001377317
- UniProtKB: Q7Z3S0 (UniProtKB/Swiss-Prot),   Q5VW44 (UniProtKB/Swiss-Prot),   Q53FA0 (UniProtKB/Swiss-Prot),   Q3KPF5 (UniProtKB/Swiss-Prot),   P43657 (UniProtKB/Swiss-Prot),   O15133 (UniProtKB/Swiss-Prot),   F2YGU4 (UniProtKB/Swiss-Prot),   B3KVF2 (UniProtKB/Swiss-Prot),   A4FTW9 (UniProtKB/Swiss-Prot),   Q7Z3S6 (UniProtKB/Swiss-Prot),   B3KVQ5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364245   ⟸   NM_001377316
- UniProtKB: Q7Z3S0 (UniProtKB/Swiss-Prot),   Q5VW44 (UniProtKB/Swiss-Prot),   Q53FA0 (UniProtKB/Swiss-Prot),   Q3KPF5 (UniProtKB/Swiss-Prot),   P43657 (UniProtKB/Swiss-Prot),   O15133 (UniProtKB/Swiss-Prot),   F2YGU4 (UniProtKB/Swiss-Prot),   B3KVF2 (UniProtKB/Swiss-Prot),   A4FTW9 (UniProtKB/Swiss-Prot),   Q7Z3S6 (UniProtKB/Swiss-Prot),   B3KVQ5 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000482660   ⟸   ENST00000620633
RefSeq Acc Id: ENSP00000344353   ⟸   ENST00000345941
RefSeq Acc Id: ENSP00000367691   ⟸   ENST00000378434
RefSeq Acc Id: XP_047285980   ⟸   XM_047430024
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047285979   ⟸   XM_047430023
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047285977   ⟸   XM_047430021
- Peptide Label: isoform X1
- UniProtKB: Q7Z3S0 (UniProtKB/Swiss-Prot),   Q5VW44 (UniProtKB/Swiss-Prot),   Q53FA0 (UniProtKB/Swiss-Prot),   Q3KPF5 (UniProtKB/Swiss-Prot),   P43657 (UniProtKB/Swiss-Prot),   O15133 (UniProtKB/Swiss-Prot),   F2YGU4 (UniProtKB/Swiss-Prot),   B3KVF2 (UniProtKB/Swiss-Prot),   A4FTW9 (UniProtKB/Swiss-Prot),   Q7Z3S6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047285975   ⟸   XM_047430019
- Peptide Label: isoform X1
- UniProtKB: Q7Z3S0 (UniProtKB/Swiss-Prot),   Q5VW44 (UniProtKB/Swiss-Prot),   Q53FA0 (UniProtKB/Swiss-Prot),   Q3KPF5 (UniProtKB/Swiss-Prot),   P43657 (UniProtKB/Swiss-Prot),   O15133 (UniProtKB/Swiss-Prot),   F2YGU4 (UniProtKB/Swiss-Prot),   B3KVF2 (UniProtKB/Swiss-Prot),   A4FTW9 (UniProtKB/Swiss-Prot),   Q7Z3S6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047285978   ⟸   XM_047430022
- Peptide Label: isoform X1
- UniProtKB: Q7Z3S0 (UniProtKB/Swiss-Prot),   Q5VW44 (UniProtKB/Swiss-Prot),   Q53FA0 (UniProtKB/Swiss-Prot),   Q3KPF5 (UniProtKB/Swiss-Prot),   P43657 (UniProtKB/Swiss-Prot),   O15133 (UniProtKB/Swiss-Prot),   F2YGU4 (UniProtKB/Swiss-Prot),   B3KVF2 (UniProtKB/Swiss-Prot),   A4FTW9 (UniProtKB/Swiss-Prot),   Q7Z3S6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047285976   ⟸   XM_047430020
- Peptide Label: isoform X1
- UniProtKB: Q7Z3S0 (UniProtKB/Swiss-Prot),   Q5VW44 (UniProtKB/Swiss-Prot),   Q53FA0 (UniProtKB/Swiss-Prot),   Q3KPF5 (UniProtKB/Swiss-Prot),   P43657 (UniProtKB/Swiss-Prot),   O15133 (UniProtKB/Swiss-Prot),   F2YGU4 (UniProtKB/Swiss-Prot),   B3KVF2 (UniProtKB/Swiss-Prot),   A4FTW9 (UniProtKB/Swiss-Prot),   Q7Z3S6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054229963   ⟸   XM_054373988
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054229962   ⟸   XM_054373987
- Peptide Label: isoform X2
Protein Domains
G-protein coupled receptors family 1 profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P43657-F1-model_v2 AlphaFold P43657 1-344 view protein structure

Promoters
RGD ID:6790953
Promoter ID:HG_KWN:17824
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Jurkat,   Lymphoblastoid,   NB4
Transcripts:NM_001162498,   OTTHUMT00000044874
Position:
Human AssemblyChrPosition (strand)Source
Build 361347,883,996 - 47,885,392 (-)MPROMDB
RGD ID:7226407
Promoter ID:EPDNEW_H18949
Type:initiation region
Name:LPAR6_1
Description:lysophosphatidic acid receptor 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381348,413,113 - 48,413,173EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15520 AgrOrtholog
COSMIC LPAR6 COSMIC
Ensembl Genes ENSG00000139679 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000345941 ENTREZGENE
  ENST00000345941.2 UniProtKB/Swiss-Prot
  ENST00000378434 ENTREZGENE
  ENST00000378434.8 UniProtKB/Swiss-Prot
  ENST00000620633 ENTREZGENE
  ENST00000620633.5 UniProtKB/Swiss-Prot
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000139679 GTEx
HGNC ID HGNC:15520 ENTREZGENE
Human Proteome Map LPAR6 Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10161 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10161 ENTREZGENE
OMIM 609239 OMIM
PANTHER G-PROTEIN COUPLED RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LYSOPHOSPHATIDIC ACID RECEPTOR 6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165505129 PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P2Y5ORPHANR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A4FTW9 ENTREZGENE
  B3KVF2 ENTREZGENE
  B3KVQ5 ENTREZGENE, UniProtKB/TrEMBL
  F2YGU4 ENTREZGENE
  LPAR6_HUMAN UniProtKB/Swiss-Prot
  O15133 ENTREZGENE
  P43657 ENTREZGENE
  Q3KPF5 ENTREZGENE
  Q53FA0 ENTREZGENE
  Q5VW44 ENTREZGENE
  Q7Z3S0 ENTREZGENE
  Q7Z3S6 ENTREZGENE
UniProt Secondary A4FTW9 UniProtKB/Swiss-Prot
  B3KVF2 UniProtKB/Swiss-Prot
  F2YGU4 UniProtKB/Swiss-Prot
  O15133 UniProtKB/Swiss-Prot
  Q3KPF5 UniProtKB/Swiss-Prot
  Q53FA0 UniProtKB/Swiss-Prot
  Q5VW44 UniProtKB/Swiss-Prot
  Q7Z3S0 UniProtKB/Swiss-Prot
  Q7Z3S6 UniProtKB/Swiss-Prot