LRRIQ3 (leucine rich repeats and IQ motif containing 3) - Rat Genome Database

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Gene: LRRIQ3 (leucine rich repeats and IQ motif containing 3) Homo sapiens
Analyze
Symbol: LRRIQ3
Name: leucine rich repeats and IQ motif containing 3
RGD ID: 1603911
HGNC Page HGNC:28318
Description: ASSOCIATED WITH genetic disease; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; benzo[a]pyrene
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: leucine rich repeat containing 44; leucine-rich repeat and IQ domain-containing protein 3; leucine-rich repeat-containing protein 44; leucine-rich repeats and IQ motif containing 3; LRRC44; MGC22773
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
GRCh38174,026,015 - 74,198,176 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl174,026,015 - 74,198,187 (-)EnsemblGRCh38hg38GRCh38
GRCh37174,491,699 - 74,663,860 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36174,264,287 - 74,436,459 (-)NCBINCBI36Build 36hg18NCBI36
Celera172,737,273 - 72,909,434 (-)NCBICelera
Cytogenetic Map1p31.1NCBI
HuRef172,626,631 - 72,798,771 (-)NCBIHuRef
CHM1_1174,607,397 - 74,779,550 (-)NCBICHM1_1
T2T-CHM13v2.0173,867,620 - 74,039,753 (-)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

Molecular Function

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:21057379   PMID:23247143   PMID:23503679   PMID:23934736   PMID:25056061   PMID:25416956   PMID:26186194   PMID:26871637   PMID:28514442   PMID:30021884   PMID:32393512  
PMID:33961781  


Genomics

Comparative Map Data
LRRIQ3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38174,026,015 - 74,198,176 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl174,026,015 - 74,198,187 (-)EnsemblGRCh38hg38GRCh38
GRCh37174,491,699 - 74,663,860 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36174,264,287 - 74,436,459 (-)NCBINCBI36Build 36hg18NCBI36
Celera172,737,273 - 72,909,434 (-)NCBICelera
Cytogenetic Map1p31.1NCBI
HuRef172,626,631 - 72,798,771 (-)NCBIHuRef
CHM1_1174,607,397 - 74,779,550 (-)NCBICHM1_1
T2T-CHM13v2.0173,867,620 - 74,039,753 (-)NCBIT2T-CHM13v2.0
Lrriq3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393154,799,032 - 154,899,915 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3154,799,071 - 154,899,917 (+)EnsemblGRCm39 Ensembl
GRCm383155,093,395 - 155,194,278 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3155,093,434 - 155,194,280 (+)EnsemblGRCm38mm10GRCm38
MGSCv373154,756,398 - 154,857,242 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363155,028,832 - 155,129,442 (+)NCBIMGSCv36mm8
Celera3161,551,401 - 161,652,357 (+)NCBICelera
Cytogenetic Map3H4NCBI
cM Map379.54NCBI
Lrriq3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82246,778,759 - 246,871,284 (+)NCBIGRCr8
mRatBN7.22244,119,975 - 244,214,590 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2244,126,200 - 244,212,339 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2251,882,192 - 251,974,502 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02249,775,996 - 249,868,305 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02244,716,369 - 244,808,592 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02261,403,040 - 261,499,893 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2261,402,980 - 261,499,891 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02280,074,848 - 280,166,764 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42252,886,022 - 253,060,065 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2235,979,540 - 236,070,905 (+)NCBICelera
Cytogenetic Map2q45NCBI
Lrriq3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542318,443,825 - 18,585,996 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542318,438,848 - 18,585,627 (+)NCBIChiLan1.0ChiLan1.0
LRRIQ3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21152,681,059 - 152,853,560 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11151,840,235 - 152,012,487 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0173,255,053 - 73,427,257 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1175,231,190 - 75,403,524 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl175,231,191 - 75,389,032 (-)Ensemblpanpan1.1panPan2
LRRIQ3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1672,138,908 - 72,306,371 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl672,157,015 - 72,305,934 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha674,804,564 - 74,974,401 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0672,734,879 - 72,904,691 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl672,752,919 - 72,905,655 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1672,255,897 - 72,425,687 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0672,175,102 - 72,344,990 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0672,670,776 - 72,840,639 (+)NCBIUU_Cfam_GSD_1.0
Lrriq3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505885,854,704 - 86,035,216 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365711,365,550 - 1,522,691 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LRRIQ3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6138,964,509 - 139,151,925 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16138,950,285 - 139,152,645 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26128,722,845 - 128,766,240 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LRRIQ3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12058,953,280 - 59,116,252 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603358,332,857 - 58,498,845 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lrriq3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474222,479,053 - 22,611,635 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LRRIQ3
37 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 copy number gain See cases [RCV000051822] Chr1:52595352..76767765 [GRCh38]
Chr1:53061024..77233450 [GRCh37]
Chr1:52833612..77006038 [NCBI36]
Chr1:1p32.3-31.1		 pathogenic
GRCh38/hg38 1p31.1-13.3(chr1:72661709-107456880)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|See cases [RCV000051825] Chr1:72661709..107456880 [GRCh38]
Chr1:73127392..107999502 [GRCh37]
Chr1:72899980..107801025 [NCBI36]
Chr1:1p31.1-13.3		 pathogenic
GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1 copy number loss See cases [RCV000053842] Chr1:59632500..76730877 [GRCh38]
Chr1:60098172..77196562 [GRCh37]
Chr1:59870760..76969150 [NCBI36]
Chr1:1p32.1-31.1		 pathogenic
NM_001105659.1(LRRIQ3):c.1315A>G (p.Lys439Glu) single nucleotide variant Malignant melanoma [RCV000064886] Chr1:74041616 [GRCh38]
Chr1:74507300 [GRCh37]
Chr1:74279888 [NCBI36]
Chr1:1p31.1		 not provided
NM_001105659.1(LRRIQ3):c.1312G>A (p.Glu438Lys) single nucleotide variant Malignant melanoma [RCV000064887] Chr1:74041619 [GRCh38]
Chr1:74507303 [GRCh37]
Chr1:74279891 [NCBI36]
Chr1:1p31.1		 not provided
NM_001112808.2(FPGT-TNNI3K):c.187G>A (p.Glu63Lys) single nucleotide variant Malignant melanoma [RCV000060242] Chr1:74199729 [GRCh38]
Chr1:74665413 [GRCh37]
Chr1:74438001 [NCBI36]
Chr1:1p31.1		 not provided
NM_001105659.1(LRRIQ3):c.998-267A>G single nucleotide variant Lung cancer [RCV000090956] Chr1:74042200 [GRCh38]
Chr1:74507884 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001105659.1(LRRIQ3):c.707+793C>A single nucleotide variant Lung cancer [RCV000090957] Chr1:74154940 [GRCh38]
Chr1:74620624 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1 copy number loss See cases [RCV000136913] Chr1:58819605..86098611 [GRCh38]
Chr1:59285277..86564294 [GRCh37]
Chr1:59057865..86336882 [NCBI36]
Chr1:1p32.1-22.3		 pathogenic
GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3 copy number gain See cases [RCV000142452] Chr1:64072618..75518432 [GRCh38]
Chr1:64538290..75984117 [GRCh37]
Chr1:64310878..75756705 [NCBI36]
Chr1:1p31.3-31.1		 pathogenic
GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1 copy number loss See cases [RCV000143129] Chr1:66865125..77123381 [GRCh38]
Chr1:67330808..77589066 [GRCh37]
Chr1:67103396..77361654 [NCBI36]
Chr1:1p31.3-31.1		 pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
GRCh37/hg19 1p31.3-31.1(chr1:63252828-77402595)x1 copy number loss See cases [RCV000446378] Chr1:63252828..77402595 [GRCh37]
Chr1:1p31.3-31.1		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1 copy number loss See cases [RCV000510161] Chr1:72044544..92505091 [GRCh37]
Chr1:1p31.1-22.1		 pathogenic
GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1 copy number loss See cases [RCV000511392] Chr1:64321264..88153669 [GRCh37]
Chr1:1p31.3-22.3		 pathogenic|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p31.1(chr1:72578280-77429541)x3 copy number gain not provided [RCV000585144] Chr1:72578280..77429541 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1 copy number loss See cases [RCV000512152] Chr1:61351024..79583933 [GRCh37]
Chr1:1p31.3-31.1		 pathogenic
GRCh37/hg19 1p31.1(chr1:72103442-77186974)x3 copy number gain not provided [RCV000684586] Chr1:72103442..77186974 [GRCh37]
Chr1:1p31.1		 likely pathogenic
GRCh37/hg19 1p31.1(chr1:72859282-75395703)x3 copy number gain not provided [RCV000684587] Chr1:72859282..75395703 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.1(chr1:74125095-75208561)x1 copy number loss not provided [RCV000684588] Chr1:74125095..75208561 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p31.1(chr1:74492543-74716443)x3 copy number gain not provided [RCV000749030] Chr1:74492543..74716443 [GRCh37]
Chr1:1p31.1		 benign
GRCh37/hg19 1p31.1(chr1:74535130-74704513)x3 copy number gain not provided [RCV000749031] Chr1:74535130..74704513 [GRCh37]
Chr1:1p31.1		 benign
GRCh37/hg19 1p31.1(chr1:74575139-74702475)x3 copy number gain not provided [RCV000749032] Chr1:74575139..74702475 [GRCh37]
Chr1:1p31.1		 benign
NM_001105659.2(LRRIQ3):c.249+1G>A single nucleotide variant not provided [RCV000888617] Chr1:74183435 [GRCh38]
Chr1:74649119 [GRCh37]
Chr1:1p31.1		 likely benign
NM_001105659.2(LRRIQ3):c.470A>G (p.His157Arg) single nucleotide variant not provided [RCV000897630] Chr1:74182641 [GRCh38]
Chr1:74648325 [GRCh37]
Chr1:1p31.1		 likely benign
GRCh37/hg19 1p31.1(chr1:71410579-78131158) copy number gain not provided [RCV000767771] Chr1:71410579..78131158 [GRCh37]
Chr1:1p31.1		 pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
Single allele deletion not provided [RCV000844927] Chr1:66085524..88429789 [GRCh37]
Chr1:1p31.3-22.2		 not provided
GRCh37/hg19 1p31.3-31.1(chr1:66868168-77106425)x1 copy number loss not provided [RCV000847457] Chr1:66868168..77106425 [GRCh37]
Chr1:1p31.3-31.1		 pathogenic
GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1 copy number loss not provided [RCV000846441] Chr1:67851233..86101340 [GRCh37]
Chr1:1p31.3-22.3		 pathogenic
GRCh37/hg19 1p31.1(chr1:74501245-74575300)x1 copy number loss not provided [RCV000847664] Chr1:74501245..74575300 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001105659.2(LRRIQ3):c.877T>C (p.Tyr293His) single nucleotide variant not provided [RCV000896224] Chr1:74074781 [GRCh38]
Chr1:74540465 [GRCh37]
Chr1:1p31.1		 benign
NM_001105659.2(LRRIQ3):c.1449A>C (p.Leu483Phe) single nucleotide variant not provided [RCV000974845] Chr1:74041482 [GRCh38]
Chr1:74507166 [GRCh37]
Chr1:1p31.1		 benign
NM_001105659.2(LRRIQ3):c.1718+4G>A single nucleotide variant not provided [RCV000888616] Chr1:74041209 [GRCh38]
Chr1:74506893 [GRCh37]
Chr1:1p31.1		 likely benign
NM_001105659.2(LRRIQ3):c.1192A>G (p.Ile398Val) single nucleotide variant LRRIQ3-related condition [RCV003978289]|not provided [RCV000955728] Chr1:74041739 [GRCh38]
Chr1:74507423 [GRCh37]
Chr1:1p31.1		 benign
GRCh37/hg19 1p31.1(chr1:74129905-74702475)x3 copy number gain See cases [RCV001007449] Chr1:74129905..74702475 [GRCh37]
Chr1:1p31.1		 likely benign
GRCh37/hg19 1p31.1(chr1:74091361-74706387)x3 copy number gain not provided [RCV001259072] Chr1:74091361..74706387 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957) copy number loss not specified [RCV002053392] Chr1:68180293..92731957 [GRCh37]
Chr1:1p31.3-22.1		 pathogenic
GRCh37/hg19 1p31.1(chr1:74010838-74849251)x3 copy number gain not provided [RCV001827801] Chr1:74010838..74849251 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.1(chr1:73209151-74812480)x3 copy number gain not provided [RCV001834427] Chr1:73209151..74812480 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001105659.2(LRRIQ3):c.35G>A (p.Ser12Asn) single nucleotide variant Inborn genetic diseases [RCV003254135] Chr1:74183650 [GRCh38]
Chr1:74649334 [GRCh37]
Chr1:1p31.1		 uncertain significance
Single allele duplication not specified [RCV002286371] Chr1:66885559..77949895 [GRCh38]
Chr1:1p31.3-31.1		 uncertain significance
GRCh37/hg19 1p31.1(chr1:74501101-74706387)x3 copy number gain not provided [RCV002472768] Chr1:74501101..74706387 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001105659.2(LRRIQ3):c.73G>A (p.Glu25Lys) single nucleotide variant Inborn genetic diseases [RCV002879914] Chr1:74183612 [GRCh38]
Chr1:74649296 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001105659.2(LRRIQ3):c.1574G>A (p.Arg525His) single nucleotide variant Inborn genetic diseases [RCV002728569] Chr1:74041357 [GRCh38]
Chr1:74507041 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001105659.2(LRRIQ3):c.1732T>C (p.Tyr578His) single nucleotide variant Inborn genetic diseases [RCV002684461] Chr1:74026956 [GRCh38]
Chr1:74492640 [GRCh37]
Chr1:1p31.1		 likely benign
NM_001105659.2(LRRIQ3):c.1204C>T (p.Arg402Trp) single nucleotide variant Inborn genetic diseases [RCV002968752] Chr1:74041727 [GRCh38]
Chr1:74507411 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001105659.2(LRRIQ3):c.1430A>T (p.Glu477Val) single nucleotide variant Inborn genetic diseases [RCV002947091] Chr1:74041501 [GRCh38]
Chr1:74507185 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001105659.2(LRRIQ3):c.191A>G (p.Asp64Gly) single nucleotide variant Inborn genetic diseases [RCV002841211] Chr1:74183494 [GRCh38]
Chr1:74649178 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001105659.2(LRRIQ3):c.433G>A (p.Val145Ile) single nucleotide variant Inborn genetic diseases [RCV002951328] Chr1:74182678 [GRCh38]
Chr1:74648362 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001105659.2(LRRIQ3):c.1639G>C (p.Glu547Gln) single nucleotide variant Inborn genetic diseases [RCV002884928] Chr1:74041292 [GRCh38]
Chr1:74506976 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001105659.2(LRRIQ3):c.952G>C (p.Asp318His) single nucleotide variant Inborn genetic diseases [RCV002844523] Chr1:74074706 [GRCh38]
Chr1:74540390 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001105659.2(LRRIQ3):c.1456G>A (p.Val486Ile) single nucleotide variant Inborn genetic diseases [RCV002704128] Chr1:74041475 [GRCh38]
Chr1:74507159 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001105659.2(LRRIQ3):c.1756T>A (p.Phe586Ile) single nucleotide variant Inborn genetic diseases [RCV002870254] Chr1:74026932 [GRCh38]
Chr1:74492616 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001105659.2(LRRIQ3):c.1689G>T (p.Lys563Asn) single nucleotide variant Inborn genetic diseases [RCV002767010] Chr1:74041242 [GRCh38]
Chr1:74506926 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001105659.2(LRRIQ3):c.1214A>C (p.Lys405Thr) single nucleotide variant Inborn genetic diseases [RCV002929588] Chr1:74041717 [GRCh38]
Chr1:74507401 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001105659.2(LRRIQ3):c.1004A>T (p.Glu335Val) single nucleotide variant Inborn genetic diseases [RCV002956197] Chr1:74041927 [GRCh38]
Chr1:74507611 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001105659.2(LRRIQ3):c.291G>T (p.Lys97Asn) single nucleotide variant Inborn genetic diseases [RCV002875130] Chr1:74182820 [GRCh38]
Chr1:74648504 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001105659.2(LRRIQ3):c.1739G>A (p.Arg580Lys) single nucleotide variant Inborn genetic diseases [RCV002768784] Chr1:74026949 [GRCh38]
Chr1:74492633 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001105659.2(LRRIQ3):c.581C>A (p.Thr194Asn) single nucleotide variant Inborn genetic diseases [RCV002723440] Chr1:74155859 [GRCh38]
Chr1:74621543 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001105659.2(LRRIQ3):c.793G>A (p.Glu265Lys) single nucleotide variant Inborn genetic diseases [RCV003299671] Chr1:74109468 [GRCh38]
Chr1:74575152 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001105659.2(LRRIQ3):c.1492A>G (p.Arg498Gly) single nucleotide variant Inborn genetic diseases [RCV003198707] Chr1:74041439 [GRCh38]
Chr1:74507123 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001105659.2(LRRIQ3):c.1477T>A (p.Tyr493Asn) single nucleotide variant Inborn genetic diseases [RCV003265439] Chr1:74041454 [GRCh38]
Chr1:74507138 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001105659.2(LRRIQ3):c.1039A>G (p.Thr347Ala) single nucleotide variant Inborn genetic diseases [RCV003375749] Chr1:74041892 [GRCh38]
Chr1:74507576 [GRCh37]
Chr1:1p31.1		 likely benign
NM_001105659.2(LRRIQ3):c.1073T>C (p.Ile358Thr) single nucleotide variant Inborn genetic diseases [RCV003364093] Chr1:74041858 [GRCh38]
Chr1:74507542 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001105659.2(LRRIQ3):c.573+1G>A single nucleotide variant LRRIQ3-related condition [RCV003410474] Chr1:74182537 [GRCh38]
Chr1:74648221 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_001105659.2(LRRIQ3):c.466C>T (p.His156Tyr) single nucleotide variant LRRIQ3-related condition [RCV003914202] Chr1:74182645 [GRCh38]
Chr1:74648329 [GRCh37]
Chr1:1p31.1		 benign
NM_001105659.2(LRRIQ3):c.1164T>G (p.Thr388=) single nucleotide variant LRRIQ3-related condition [RCV003951946] Chr1:74041767 [GRCh38]
Chr1:74507451 [GRCh37]
Chr1:1p31.1		 likely benign
NM_001105659.2(LRRIQ3):c.763G>A (p.Ala255Thr) single nucleotide variant LRRIQ3-related condition [RCV003974771] Chr1:74109498 [GRCh38]
Chr1:74575182 [GRCh37]
Chr1:1p31.1		 benign
NM_001105659.2(LRRIQ3):c.696A>G (p.Arg232=) single nucleotide variant LRRIQ3-related condition [RCV003934095] Chr1:74155744 [GRCh38]
Chr1:74621428 [GRCh37]
Chr1:1p31.1		 likely benign
NM_001105659.2(LRRIQ3):c.69A>C (p.Ile23=) single nucleotide variant LRRIQ3-related condition [RCV003969031] Chr1:74183616 [GRCh38]
Chr1:74649300 [GRCh37]
Chr1:1p31.1		 likely benign
NM_001105659.2(LRRIQ3):c.160G>A (p.Val54Ile) single nucleotide variant LRRIQ3-related condition [RCV003907143] Chr1:74183525 [GRCh38]
Chr1:74649209 [GRCh37]
Chr1:1p31.1		 likely benign
GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1 copy number loss not provided [RCV003885448] Chr1:73616197..87012961 [GRCh37]
Chr1:1p31.1-22.3		 likely pathogenic
NM_001105659.2(LRRIQ3):c.1573C>T (p.Arg525Cys) single nucleotide variant LRRIQ3-related condition [RCV003944728] Chr1:74041358 [GRCh38]
Chr1:74507042 [GRCh37]
Chr1:1p31.1		 benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2396
Count of miRNA genes:844
Interacting mature miRNAs:980
Transcripts:ENST00000354431, ENST00000370909, ENST00000370911, ENST00000395089, ENST00000415760, ENST00000417067, ENST00000444984, ENST00000463724, ENST00000468759, ENST00000495179
Prediction methods:Microtar, Miranda, Rnahybrid
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
SHGC-84880  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,665,428 - 74,665,727UniSTSGRCh37
Build 36174,438,016 - 74,438,315RGDNCBI36
Celera172,910,991 - 72,911,290RGD
Cytogenetic Map1p31.1UniSTS
HuRef172,800,328 - 72,800,627UniSTS
RH121722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,545,621 - 74,545,891UniSTSGRCh37
Build 36174,318,209 - 74,318,479RGDNCBI36
Celera172,791,195 - 72,791,465RGD
Cytogenetic Map1p31.1UniSTS
HuRef172,680,526 - 72,680,796UniSTS
TNG Radiation Hybrid Map140454.0UniSTS
RH119236  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,542,266 - 74,542,603UniSTSGRCh37
Build 36174,314,854 - 74,315,191RGDNCBI36
Celera172,787,840 - 72,788,177RGD
Cytogenetic Map1p31.1UniSTS
HuRef172,677,171 - 72,677,508UniSTS
TNG Radiation Hybrid Map140461.0UniSTS
SHGC-111542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,607,138 - 74,607,482UniSTSGRCh37
Build 36174,379,726 - 74,380,070RGDNCBI36
Celera172,852,712 - 72,853,056RGD
Cytogenetic Map1p31.1UniSTS
HuRef172,742,048 - 72,742,392UniSTS
A009Y47  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,648,343 - 74,648,473UniSTSGRCh37
Build 36174,420,931 - 74,421,061RGDNCBI36
Celera172,893,906 - 72,894,036RGD
Cytogenetic Map1p31.1UniSTS
HuRef172,783,243 - 72,783,373UniSTS
GeneMap99-GB4 RH Map1195.12UniSTS
SHGC-75034  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,648,335 - 74,648,445UniSTSGRCh37
Build 36174,420,923 - 74,421,033RGDNCBI36
Celera172,893,898 - 72,894,008RGD
Cytogenetic Map1p31.1UniSTS
HuRef172,783,235 - 72,783,345UniSTS
GeneMap99-GB4 RH Map1193.94UniSTS
G32999  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,648,343 - 74,648,473UniSTSGRCh37
Celera172,893,906 - 72,894,036UniSTS
Cytogenetic Map1p31.1UniSTS
HuRef172,783,243 - 72,783,373UniSTS


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 pharyngeal arch
High
Medium 242
Low 64 12 336 27 587 30 265 39 233 163 311 369 4 1 262 15 1
Below cutoff 2254 2563 1352 560 1087 401 3771 1924 3429 240 857 1217 167 940 2535 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001105659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007079570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC098692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000354431   ⟹   ENSP00000346414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,026,015 - 74,198,176 (-)Ensembl
RefSeq Acc Id: ENST00000370909   ⟹   ENSP00000359946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,084,127 - 74,198,155 (-)Ensembl
RefSeq Acc Id: ENST00000370911   ⟹   ENSP00000359948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,179,907 - 74,198,147 (-)Ensembl
RefSeq Acc Id: ENST00000395089   ⟹   ENSP00000378524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,026,015 - 74,183,684 (-)Ensembl
RefSeq Acc Id: ENST00000415760   ⟹   ENSP00000415319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,026,241 - 74,198,187 (-)Ensembl
RefSeq Acc Id: ENST00000417067   ⟹   ENSP00000390376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,026,015 - 74,074,790 (-)Ensembl
RefSeq Acc Id: ENST00000444984   ⟹   ENSP00000398289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,144,384 - 74,183,511 (-)Ensembl
RefSeq Acc Id: ENST00000463724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,180,223 - 74,198,147 (-)Ensembl
RefSeq Acc Id: ENST00000468759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,083,793 - 74,155,849 (-)Ensembl
RefSeq Acc Id: ENST00000495179
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,155,663 - 74,182,622 (-)Ensembl
RefSeq Acc Id: NM_001105659   ⟹   NP_001099129
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,026,015 - 74,198,176 (-)NCBI
GRCh37174,491,699 - 74,663,871 (-)RGD
Build 36174,264,287 - 74,436,459 (-)NCBI Archive
Celera172,737,273 - 72,909,434 (-)RGD
HuRef172,626,631 - 72,798,771 (-)ENTREZGENE
CHM1_1174,607,397 - 74,779,550 (-)NCBI
T2T-CHM13v2.0173,867,620 - 74,039,728 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322315   ⟹   NP_001309244
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,026,015 - 74,198,176 (-)NCBI
CHM1_1174,607,397 - 74,779,550 (-)NCBI
T2T-CHM13v2.0173,867,620 - 74,039,728 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000287   ⟹   XP_016855776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,094,948 - 74,198,176 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453185   ⟹   XP_024308953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,103,891 - 74,198,176 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047445373   ⟹   XP_047301329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,026,241 - 74,083,882 (-)NCBI
RefSeq Acc Id: XM_047445378   ⟹   XP_047301334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,026,241 - 74,081,012 (-)NCBI
RefSeq Acc Id: XM_047445380   ⟹   XP_047301336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,084,130 - 74,198,176 (-)NCBI
RefSeq Acc Id: XM_047445382   ⟹   XP_047301338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,094,948 - 74,198,176 (-)NCBI
RefSeq Acc Id: XM_047445383   ⟹   XP_047301339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,026,241 - 74,083,882 (-)NCBI
RefSeq Acc Id: XM_047445386   ⟹   XP_047301342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,083,793 - 74,198,176 (-)NCBI
RefSeq Acc Id: XM_054334326   ⟹   XP_054190301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,867,846 - 73,925,467 (-)NCBI
RefSeq Acc Id: XM_054334327   ⟹   XP_054190302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,867,846 - 73,922,596 (-)NCBI
RefSeq Acc Id: XM_054334328   ⟹   XP_054190303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,945,463 - 74,039,753 (-)NCBI
RefSeq Acc Id: XM_054334329   ⟹   XP_054190304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,925,715 - 74,039,753 (-)NCBI
RefSeq Acc Id: XM_054334330   ⟹   XP_054190305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,936,601 - 74,039,753 (-)NCBI
RefSeq Acc Id: XM_054334331   ⟹   XP_054190306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,936,601 - 74,039,753 (-)NCBI
RefSeq Acc Id: XM_054334332   ⟹   XP_054190307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,867,846 - 73,925,467 (-)NCBI
RefSeq Acc Id: XR_007079570
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,026,882 - 74,198,176 (-)NCBI
RefSeq Acc Id: XR_008485927
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,868,487 - 74,039,753 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001099129 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309244 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855776 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308953 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301329 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301334 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301336 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301338 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301339 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301342 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190301 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190302 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190303 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190304 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190305 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190306 (Get FASTA)   NCBI Sequence Viewer  
  XP_054190307 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A6PVS8 (Get FASTA)   NCBI Sequence Viewer  
  AAH20778 (Get FASTA)   NCBI Sequence Viewer  
  AAH62795 (Get FASTA)   NCBI Sequence Viewer  
  BAD18621 (Get FASTA)   NCBI Sequence Viewer  
  EAX06418 (Get FASTA)   NCBI Sequence Viewer  
  EAX06419 (Get FASTA)   NCBI Sequence Viewer  
  EAX06420 (Get FASTA)   NCBI Sequence Viewer  
  EAX06421 (Get FASTA)   NCBI Sequence Viewer  
  EAX06422 (Get FASTA)   NCBI Sequence Viewer  
  EAX06423 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000346414
  ENSP00000346414.4
  ENSP00000359946.2
  ENSP00000359948.3
  ENSP00000378524.1
  ENSP00000390376.1
  ENSP00000398289.1
  ENSP00000415319
  ENSP00000415319.1
Reference Protein Sequences
RefSeq Acc Id: NP_001099129   ⟸   NM_001105659
- Peptide Label: isoform 1
- UniProtKB: Q6ZMV4 (UniProtKB/Swiss-Prot),   Q6P5P7 (UniProtKB/Swiss-Prot),   A6PVS9 (UniProtKB/Swiss-Prot),   Q8WUE0 (UniProtKB/Swiss-Prot),   A6PVS8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309244   ⟸   NM_001322315
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: XP_016855776   ⟸   XM_017000287
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024308953   ⟸   XM_024453185
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000359946   ⟸   ENST00000370909
RefSeq Acc Id: ENSP00000359948   ⟸   ENST00000370911
RefSeq Acc Id: ENSP00000415319   ⟸   ENST00000415760
RefSeq Acc Id: ENSP00000390376   ⟸   ENST00000417067
RefSeq Acc Id: ENSP00000398289   ⟸   ENST00000444984
RefSeq Acc Id: ENSP00000346414   ⟸   ENST00000354431
RefSeq Acc Id: ENSP00000378524   ⟸   ENST00000395089
RefSeq Acc Id: XP_047301339   ⟸   XM_047445383
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047301329   ⟸   XM_047445373
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047301334   ⟸   XM_047445378
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047301342   ⟸   XM_047445386
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047301336   ⟸   XM_047445380
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047301338   ⟸   XM_047445382
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054190307   ⟸   XM_054334332
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054190301   ⟸   XM_054334326
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054190302   ⟸   XM_054334327
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054190304   ⟸   XM_054334329
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054190305   ⟸   XM_054334330
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054190306   ⟸   XM_054334331
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054190303   ⟸   XM_054334328
- Peptide Label: isoform X2
Protein Domains
IQ   LRRCT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A6PVS8-F1-model_v2 AlphaFold A6PVS8 1-624 view protein structure

Promoters
RGD ID:6855890
Promoter ID:EPDNEW_H1110
Type:initiation region
Name:LRRIQ3_1
Description:leucine rich repeats and IQ motif containing 3
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
GRCh38174,198,176 - 74,198,236EPDNEW
RGD ID:6785633
Promoter ID:HG_KWN:3260
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000370893,   ENST00000370894,   ENST00000370899,   ENST00000370909,   ENST00000388972,   NM_001105659,   NM_003838,   OTTHUMT00000026275,   OTTHUMT00000026276,   OTTHUMT00000026434,   OTTHUMT00000026435,   OTTHUMT00000092519,   UC001DFZ.2,   UC001DGC.1,   UC001DGE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36174,436,221 - 74,436,721 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28318 AgrOrtholog
COSMIC LRRIQ3 COSMIC
Ensembl Genes ENSG00000162620 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000354431 ENTREZGENE
  ENST00000354431.9 UniProtKB/Swiss-Prot
  ENST00000370909.6 UniProtKB/TrEMBL
  ENST00000370911.7 UniProtKB/Swiss-Prot
  ENST00000395089.5 UniProtKB/Swiss-Prot
  ENST00000415760 ENTREZGENE
  ENST00000415760.5 UniProtKB/Swiss-Prot
  ENST00000417067.5 UniProtKB/TrEMBL
  ENST00000444984.1 UniProtKB/TrEMBL
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000162620 GTEx
HGNC ID HGNC:28318 ENTREZGENE
Human Proteome Map LRRIQ3 Human Proteome Map
InterPro IQ_motif_EF-hand-BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt UniProtKB/Swiss-Prot
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:127255 UniProtKB/Swiss-Prot
NCBI Gene 127255 ENTREZGENE
OMIM 617957 OMIM
PANTHER LEUCINE-RICH REPEAT AND IQ DOMAIN-CONTAINING PROTEIN 3 UniProtKB/Swiss-Prot
  LEUCINE-RICH REPEAT AND IQ DOMAIN-CONTAINING PROTEIN 3 UniProtKB/Swiss-Prot
  LEUCINE-RICH REPEAT AND IQ DOMAIN-CONTAINING PROTEIN 3 UniProtKB/TrEMBL
  LEUCINE-RICH REPEAT AND IQ DOMAIN-CONTAINING PROTEIN 3 UniProtKB/TrEMBL
Pfam PF00612 UniProtKB/TrEMBL
PharmGKB PA162394627 PharmGKB
PROSITE LRR UniProtKB/Swiss-Prot
  PS50096 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP L domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Outer arm dynein light chain 1 UniProtKB/TrEMBL
UniProt A6PVS8 ENTREZGENE
  A6PVS9 ENTREZGENE
  A6PVT2_HUMAN UniProtKB/TrEMBL
  A8MSG4_HUMAN UniProtKB/TrEMBL
  H0Y5F9_HUMAN UniProtKB/TrEMBL
  LRIQ3_HUMAN UniProtKB/Swiss-Prot
  Q6P5P7 ENTREZGENE
  Q6ZMV4 ENTREZGENE
  Q8WUE0 ENTREZGENE
UniProt Secondary A6PVS9 UniProtKB/Swiss-Prot
  Q6P5P7 UniProtKB/Swiss-Prot
  Q6ZMV4 UniProtKB/Swiss-Prot
  Q8WUE0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 LRRIQ3  leucine rich repeats and IQ motif containing 3    leucine-rich repeats and IQ motif containing 3  Symbol and/or name change 5135510 APPROVED