LRGUK (leucine rich repeats and guanylate kinase domain containing) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: LRGUK (leucine rich repeats and guanylate kinase domain containing) Homo sapiens
Analyze
Symbol: LRGUK
Name: leucine rich repeats and guanylate kinase domain containing
RGD ID: 1603904
HGNC Page HGNC:21964
Description: Predicted to enable guanylate kinase activity. Predicted to be involved in axoneme assembly and spermatogenesis. Predicted to be located in acrosomal vesicle and manchette. Predicted to be active in cytosol.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CFAP246; FLJ32786; leucine-rich repeat and guanylate kinase domain-containing protein; leucine-rich repeats and guanylate kinase domain containing
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
GRCh387134,127,340 - 134,276,685 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7134,127,299 - 134,264,595 (+)EnsemblGRCh38hg38GRCh38
GRCh377133,812,093 - 133,949,347 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367133,462,645 - 133,599,473 (+)NCBINCBI36Build 36hg18NCBI36
Celera7128,549,620 - 128,686,380 (+)NCBICelera
Cytogenetic Map7q33NCBI
HuRef7128,113,745 - 128,250,751 (+)NCBIHuRef
CHM1_17133,746,675 - 133,883,286 (+)NCBICHM1_1
T2T-CHM13v2.07135,424,298 - 135,584,803 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27133,156,684 - 133,293,312 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:12690205   PMID:14702039   PMID:18498660   PMID:20379614   PMID:21873635   PMID:25781171   PMID:31201273   PMID:32296183   PMID:35256949  


Genomics

Comparative Map Data
LRGUK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387134,127,340 - 134,276,685 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7134,127,299 - 134,264,595 (+)EnsemblGRCh38hg38GRCh38
GRCh377133,812,093 - 133,949,347 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367133,462,645 - 133,599,473 (+)NCBINCBI36Build 36hg18NCBI36
Celera7128,549,620 - 128,686,380 (+)NCBICelera
Cytogenetic Map7q33NCBI
HuRef7128,113,745 - 128,250,751 (+)NCBIHuRef
CHM1_17133,746,675 - 133,883,286 (+)NCBICHM1_1
T2T-CHM13v2.07135,424,298 - 135,584,803 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27133,156,684 - 133,293,312 (+)NCBI
Lrguk
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39634,006,183 - 34,110,969 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl634,006,379 - 34,110,969 (+)EnsemblGRCm39 Ensembl
GRCm38634,029,245 - 34,134,034 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl634,029,448 - 34,134,034 (+)EnsemblGRCm38mm10GRCm38
MGSCv37633,979,448 - 34,084,034 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36633,959,606 - 34,064,192 (+)NCBIMGSCv36mm8
Celera634,025,402 - 34,131,289 (+)NCBICelera
Cytogenetic Map6A3.3NCBI
cM Map614.75NCBI
Lrguk
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8463,614,431 - 63,737,463 (+)NCBIGRCr8
mRatBN7.2462,647,222 - 62,770,268 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl462,647,264 - 62,770,319 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx467,598,875 - 67,705,095 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0463,514,587 - 63,620,819 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0461,917,002 - 62,023,226 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0461,419,987 - 61,544,748 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl461,420,009 - 61,544,446 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0461,143,324 - 61,265,284 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4461,348,199 - 61,458,380 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1461,624,343 - 61,733,924 (+)NCBI
Celera457,700,495 - 57,807,232 (+)NCBICelera
Cytogenetic Map4q22NCBI
Lrguk
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541033,753,999 - 33,870,523 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541033,753,411 - 33,870,512 (-)NCBIChiLan1.0ChiLan1.0
LRGUK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26170,942,941 - 171,097,100 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1722,955,438 - 23,107,079 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07126,087,557 - 126,225,253 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17138,595,150 - 138,731,914 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7138,595,150 - 138,731,507 (+)Ensemblpanpan1.1panPan2
LRGUK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1143,191,324 - 3,301,306 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl143,193,813 - 3,301,293 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha142,846,409 - 2,957,446 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0142,919,311 - 3,030,563 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl142,923,556 - 3,030,548 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1143,123,357 - 3,234,896 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0142,867,985 - 2,979,285 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0143,014,095 - 3,125,199 (-)NCBIUU_Cfam_GSD_1.0
Lrguk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511821,359,788 - 21,462,808 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365791,492,389 - 1,595,465 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365791,492,868 - 1,595,402 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LRGUK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1814,957,509 - 15,071,876 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11814,957,257 - 15,074,978 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21815,904,316 - 16,021,336 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LRGUK
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121102,753,877 - 102,884,558 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl21102,755,344 - 102,884,003 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666042463,822 - 606,248 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lrguk
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247832,112,121 - 2,263,632 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LRGUK
51 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3		 pathogenic
GRCh38/hg38 7q33(chr7:133385456-134378422)x3 copy number gain See cases [RCV000051016] Chr7:133385456..134378422 [GRCh38]
Chr7:133070210..134063174 [GRCh37]
Chr7:132720750..133713714 [NCBI36]
Chr7:7q33		 uncertain significance
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172] Chr7:132023155..149309794 [GRCh38]
Chr7:131707914..149006885 [GRCh37]
Chr7:131358454..148637818 [NCBI36]
Chr7:7q32.3-36.1		 pathogenic
NM_144648.1(LRGUK):c.694G>A (p.Gly232Arg) single nucleotide variant Malignant melanoma [RCV000067651] Chr7:134158058 [GRCh38]
Chr7:133842811 [GRCh37]
Chr7:133493351 [NCBI36]
Chr7:7q33		 not provided
NM_144648.1(LRGUK):c.1605G>T (p.Met535Ile) single nucleotide variant Malignant melanoma [RCV000067652] Chr7:134199279 [GRCh38]
Chr7:133884031 [GRCh37]
Chr7:133534571 [NCBI36]
Chr7:7q33		 not provided
NM_144648.1(LRGUK):c.1625G>A (p.Gly542Glu) single nucleotide variant Malignant melanoma [RCV000061561] Chr7:134199299 [GRCh38]
Chr7:133884051 [GRCh37]
Chr7:133534591 [NCBI36]
Chr7:7q33		 not provided
NM_144648.1(LRGUK):c.1021-506C>T single nucleotide variant Lung cancer [RCV000105633] Chr7:134176471 [GRCh38]
Chr7:133861223 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.1(LRGUK):c.1984-625A>G single nucleotide variant Lung cancer [RCV000105634] Chr7:134246931 [GRCh38]
Chr7:133931683 [GRCh37]
Chr7:7q33		 uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1 copy number loss See cases [RCV000138226] Chr7:117326805..134790689 [GRCh38]
Chr7:116966859..134475440 [GRCh37]
Chr7:116754095..134125980 [NCBI36]
Chr7:7q31.2-33		 pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1 copy number loss See cases [RCV000142552] Chr7:124170657..134163594 [GRCh38]
Chr7:123810711..133848346 [GRCh37]
Chr7:123597947..133498886 [NCBI36]
Chr7:7q31.33-33		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q32.3-34(chr7:131642114-139107211)x1 copy number loss See cases [RCV000448552] Chr7:131642114..139107211 [GRCh37]
Chr7:7q32.3-34		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)x1 copy number loss See cases [RCV000447722] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q33(chr7:133603973-134129003)x3 copy number gain See cases [RCV000511357] Chr7:133603973..134129003 [GRCh37]
Chr7:7q33		 likely benign
GRCh37/hg19 7q33(chr7:133302761-133830628)x1 copy number loss See cases [RCV000511744] Chr7:133302761..133830628 [GRCh37]
Chr7:7q33		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_144648.3(LRGUK):c.36A>C (p.Arg12Ser) single nucleotide variant Inborn genetic diseases [RCV003243762] Chr7:134127403 [GRCh38]
Chr7:133812156 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.2435A>G (p.Asn812Ser) single nucleotide variant Inborn genetic diseases [RCV003272906] Chr7:134263932 [GRCh38]
Chr7:133948684 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.1934A>G (p.Asn645Ser) single nucleotide variant Inborn genetic diseases [RCV003293122] Chr7:134221869 [GRCh38]
Chr7:133906621 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.68C>A (p.Ser23Tyr) single nucleotide variant Inborn genetic diseases [RCV003248447] Chr7:134127435 [GRCh38]
Chr7:133812188 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.1843+4C>A single nucleotide variant not specified [RCV000602278] Chr7:134201580 [GRCh38]
Chr7:133886332 [GRCh37]
Chr7:7q33		 likely benign
GRCh37/hg19 7q33(chr7:133749674-133848346)x1 copy number loss not provided [RCV000659228] Chr7:133749674..133848346 [GRCh37]
Chr7:7q33		 likely benign
GRCh37/hg19 7q33(chr7:133856664-133929449)x1 copy number loss not provided [RCV000682773] Chr7:133856664..133929449 [GRCh37]
Chr7:7q33		 uncertain significance
GRCh37/hg19 7q33(chr7:133064191-134008520)x3 copy number gain not provided [RCV000682877] Chr7:133064191..134008520 [GRCh37]
Chr7:7q33		 likely benign
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q33(chr7:133230189-137972605)x1 copy number loss not provided [RCV000682906] Chr7:133230189..137972605 [GRCh37]
Chr7:7q33		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
Single allele complex Renal transitional cell carcinoma [RCV000754611] Chr7:129367205..140482957 [GRCh37]
Chr7:7q32.2-34		 likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q33(chr7:133755676-133848257)x1 copy number loss not provided [RCV000747055] Chr7:133755676..133848257 [GRCh37]
Chr7:7q33		 benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
GRCh37/hg19 7q33(chr7:133948073-134004076)x1 copy number loss not provided [RCV001006018] Chr7:133948073..134004076 [GRCh37]
Chr7:7q33		 uncertain significance
GRCh37/hg19 7q33(chr7:133895591-134317660)x1 copy number loss not provided [RCV000849810] Chr7:133895591..134317660 [GRCh37]
Chr7:7q33		 uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
NM_144648.3(LRGUK):c.1147G>A (p.Val383Ile) single nucleotide variant Inborn genetic diseases [RCV003251805] Chr7:134178542 [GRCh38]
Chr7:133863294 [GRCh37]
Chr7:7q33		 uncertain significance
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3		 pathogenic
GRCh37/hg19 7q33(chr7:133741836-133856665)x1 copy number loss not provided [RCV001258974] Chr7:133741836..133856665 [GRCh37]
Chr7:7q33		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1 copy number loss Hypertelorism [RCV001801200] Chr7:133848099..145814115 [GRCh37]
Chr7:7q33-35		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358) copy number loss not specified [RCV002053727] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34		 pathogenic
GRCh37/hg19 7q31.33-33(chr7:124103982-134693590) copy number loss not specified [RCV002053726] Chr7:124103982..134693590 [GRCh37]
Chr7:7q31.33-33		 pathogenic
NC_000007.13:g.(?_130781014)_(150301047_?)del deletion not provided [RCV003116360] Chr7:130781014..150301047 [GRCh37]
Chr7:7q32.3-36.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_144648.3(LRGUK):c.1489A>G (p.Thr497Ala) single nucleotide variant Inborn genetic diseases [RCV002991148] Chr7:134197049 [GRCh38]
Chr7:133881801 [GRCh37]
Chr7:7q33		 uncertain significance
GRCh37/hg19 7q33(chr7:133679202-133910949)x3 copy number gain not provided [RCV002472812] Chr7:133679202..133910949 [GRCh37]
Chr7:7q33		 uncertain significance
GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1 copy number loss not provided [RCV002472560] Chr7:131779213..149042734 [GRCh37]
Chr7:7q32.3-36.1		 pathogenic
NM_144648.3(LRGUK):c.593C>T (p.Ala198Val) single nucleotide variant Inborn genetic diseases [RCV002840799] Chr7:134148242 [GRCh38]
Chr7:133832995 [GRCh37]
Chr7:7q33		 likely benign
NM_144648.3(LRGUK):c.1381G>A (p.Val461Ile) single nucleotide variant Inborn genetic diseases [RCV002945391] Chr7:134191701 [GRCh38]
Chr7:133876453 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.1314T>G (p.Phe438Leu) single nucleotide variant Inborn genetic diseases [RCV002752240] Chr7:134183833 [GRCh38]
Chr7:133868585 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.244G>A (p.Glu82Lys) single nucleotide variant Inborn genetic diseases [RCV002778250] Chr7:134127611 [GRCh38]
Chr7:133812364 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.1247T>C (p.Met416Thr) single nucleotide variant Inborn genetic diseases [RCV002689059] Chr7:134183766 [GRCh38]
Chr7:133868518 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.1959A>C (p.Lys653Asn) single nucleotide variant Inborn genetic diseases [RCV002840636] Chr7:134221894 [GRCh38]
Chr7:133906646 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.1348A>G (p.Thr450Ala) single nucleotide variant Inborn genetic diseases [RCV002738639] Chr7:134191668 [GRCh38]
Chr7:133876420 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.1966G>A (p.Ala656Thr) single nucleotide variant Inborn genetic diseases [RCV002823338] Chr7:134221901 [GRCh38]
Chr7:133906653 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.2020C>T (p.Arg674Trp) single nucleotide variant Inborn genetic diseases [RCV002951776] Chr7:134247592 [GRCh38]
Chr7:133932344 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.1532A>G (p.His511Arg) single nucleotide variant Inborn genetic diseases [RCV002870341] Chr7:134197092 [GRCh38]
Chr7:133881844 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.2474G>T (p.Arg825Met) single nucleotide variant Inborn genetic diseases [RCV002868415] Chr7:134263971 [GRCh38]
Chr7:133948723 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.989G>A (p.Arg330Gln) single nucleotide variant Inborn genetic diseases [RCV002821412] Chr7:134174605 [GRCh38]
Chr7:133859357 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.2042T>C (p.Ile681Thr) single nucleotide variant Inborn genetic diseases [RCV002744511] Chr7:134247614 [GRCh38]
Chr7:133932366 [GRCh37]
Chr7:7q33		 likely benign
NM_144648.3(LRGUK):c.1718C>T (p.Pro573Leu) single nucleotide variant Inborn genetic diseases [RCV002765325] Chr7:134199392 [GRCh38]
Chr7:133884144 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.203G>A (p.Arg68His) single nucleotide variant Inborn genetic diseases [RCV002915214] Chr7:134127570 [GRCh38]
Chr7:133812323 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.1450T>C (p.Phe484Leu) single nucleotide variant Inborn genetic diseases [RCV002708776] Chr7:134197010 [GRCh38]
Chr7:133881762 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.1306A>G (p.Arg436Gly) single nucleotide variant Inborn genetic diseases [RCV002742561] Chr7:134183825 [GRCh38]
Chr7:133868577 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.1455T>G (p.Ser485Arg) single nucleotide variant Inborn genetic diseases [RCV002764907] Chr7:134197015 [GRCh38]
Chr7:133881767 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.1925C>T (p.Thr642Ile) single nucleotide variant Inborn genetic diseases [RCV002954874] Chr7:134221860 [GRCh38]
Chr7:133906612 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.70C>G (p.Arg24Gly) single nucleotide variant Inborn genetic diseases [RCV003004837] Chr7:134127437 [GRCh38]
Chr7:133812190 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.1316G>A (p.Ser439Asn) single nucleotide variant Inborn genetic diseases [RCV002789835] Chr7:134183835 [GRCh38]
Chr7:133868587 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.2279C>T (p.Pro760Leu) single nucleotide variant Inborn genetic diseases [RCV002875203] Chr7:134258337 [GRCh38]
Chr7:133943089 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.2332G>A (p.Glu778Lys) single nucleotide variant Inborn genetic diseases [RCV002961261] Chr7:134258390 [GRCh38]
Chr7:133943142 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.2341C>T (p.Arg781Trp) single nucleotide variant Inborn genetic diseases [RCV002961262] Chr7:134258399 [GRCh38]
Chr7:133943151 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.1036T>C (p.Trp346Arg) single nucleotide variant Inborn genetic diseases [RCV002723945] Chr7:134176992 [GRCh38]
Chr7:133861744 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.1326C>G (p.Phe442Leu) single nucleotide variant Inborn genetic diseases [RCV002679461] Chr7:134183845 [GRCh38]
Chr7:133868597 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.2342G>A (p.Arg781Gln) single nucleotide variant Inborn genetic diseases [RCV003255415] Chr7:134258400 [GRCh38]
Chr7:133943152 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.1462A>T (p.Asn488Tyr) single nucleotide variant Inborn genetic diseases [RCV003181105] Chr7:134197022 [GRCh38]
Chr7:133881774 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.2101G>C (p.Gly701Arg) single nucleotide variant Inborn genetic diseases [RCV003178830] Chr7:134248979 [GRCh38]
Chr7:133933731 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.1247T>G (p.Met416Arg) single nucleotide variant Inborn genetic diseases [RCV003201874] Chr7:134183766 [GRCh38]
Chr7:133868518 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.1657G>A (p.Ala553Thr) single nucleotide variant Inborn genetic diseases [RCV003217697] Chr7:134199331 [GRCh38]
Chr7:133884083 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.1064G>A (p.Arg355Gln) single nucleotide variant Inborn genetic diseases [RCV003191145] Chr7:134177020 [GRCh38]
Chr7:133861772 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.1162C>T (p.His388Tyr) single nucleotide variant Inborn genetic diseases [RCV003309909] Chr7:134178557 [GRCh38]
Chr7:133863309 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.959T>C (p.Ile320Thr) single nucleotide variant Inborn genetic diseases [RCV003347592] Chr7:134174575 [GRCh38]
Chr7:133859327 [GRCh37]
Chr7:7q33		 uncertain significance
NM_144648.3(LRGUK):c.1582C>T (p.Arg528Cys) single nucleotide variant Inborn genetic diseases [RCV003363494] Chr7:134199256 [GRCh38]
Chr7:133884008 [GRCh37]
Chr7:7q33		 uncertain significance
GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1 copy number loss not specified [RCV003986721] Chr7:120582003..137699953 [GRCh37]
Chr7:7q31.31-33		 pathogenic
NM_144648.3(LRGUK):c.1583G>A (p.Arg528His) single nucleotide variant not provided [RCV003885696] Chr7:134199257 [GRCh38]
Chr7:133884009 [GRCh37]
Chr7:7q33		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:347
Count of miRNA genes:299
Interacting mature miRNAs:315
Transcripts:ENST00000285928, ENST00000473068
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D7S2438  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377133,911,131 - 133,911,270UniSTSGRCh37
GRCh377133,910,943 - 133,911,190UniSTSGRCh37
Build 367133,561,483 - 133,561,730RGDNCBI36
Celera7128,648,605 - 128,648,744UniSTS
Celera7128,648,410 - 128,648,664RGD
Cytogenetic Map7q33UniSTS
HuRef7128,212,952 - 128,213,091UniSTS
HuRef7128,212,760 - 128,213,011UniSTS
CRA_TCAGchr7v27133,255,668 - 133,255,807UniSTS
CRA_TCAGchr7v27133,255,474 - 133,255,727UniSTS
Marshfield Genetic Map7138.42RGD
Genethon Genetic Map7139.6UniSTS
TNG Radiation Hybrid Map769261.0UniSTS
Stanford-G3 RH Map76611.0UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map71364.0UniSTS
GeneMap99-G3 RH Map76611.0UniSTS
D7S631  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377133,939,924 - 133,940,092UniSTSGRCh37
GRCh377133,939,925 - 133,940,044UniSTSGRCh37
Build 367133,590,465 - 133,590,584RGDNCBI36
Celera7128,677,373 - 128,677,490RGD
Celera7128,677,372 - 128,677,538UniSTS
Cytogenetic Map7q33UniSTS
HuRef7128,241,745 - 128,241,911UniSTS
HuRef7128,241,746 - 128,241,863UniSTS
CRA_TCAGchr7v27133,284,303 - 133,284,468UniSTS
CRA_TCAGchr7v27133,284,304 - 133,284,420UniSTS
Marshfield Genetic Map7138.42UniSTS
Marshfield Genetic Map7138.42RGD
Genethon Genetic Map7139.7UniSTS
deCODE Assembly Map7138.86UniSTS
Stanford-G3 RH Map76604.0UniSTS
GeneMap99-GB4 RH Map7605.44UniSTS
Whitehead-RH Map7583.3UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map71361.5UniSTS
GeneMap99-G3 RH Map76604.0UniSTS
D8S2110  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera7128,584,394 - 128,584,519RGD
Cytogenetic Map7q33UniSTS
HuRef7128,148,511 - 128,148,636UniSTS
CRA_TCAGchr7v27133,191,458 - 133,191,583UniSTS
RH119550  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377133,876,885 - 133,877,202UniSTSGRCh37
Build 367133,527,425 - 133,527,742RGDNCBI36
Celera7128,614,357 - 128,614,674RGD
Cytogenetic Map7q33UniSTS
HuRef7128,178,705 - 128,179,022UniSTS
CRA_TCAGchr7v27133,221,421 - 133,221,738UniSTS
TNG Radiation Hybrid Map769326.0UniSTS
RH121440  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377133,838,427 - 133,838,757UniSTSGRCh37
Build 367133,488,967 - 133,489,297RGDNCBI36
Celera7128,575,934 - 128,576,264RGD
Cytogenetic Map7q33UniSTS
HuRef7128,140,051 - 128,140,381UniSTS
CRA_TCAGchr7v27133,182,998 - 133,183,328UniSTS
TNG Radiation Hybrid Map769311.0UniSTS
G62620  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377133,833,949 - 133,834,234UniSTSGRCh37
Build 367133,484,489 - 133,484,774RGDNCBI36
Celera7128,571,460 - 128,571,745RGD
Cytogenetic Map7q33UniSTS
HuRef7128,135,575 - 128,135,860UniSTS
CRA_TCAGchr7v27133,178,524 - 133,178,809UniSTS
TNG Radiation Hybrid Map769315.0UniSTS
G63230  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377133,839,761 - 133,840,100UniSTSGRCh37
Build 367133,490,301 - 133,490,640RGDNCBI36
Celera7128,577,268 - 128,577,607RGD
Cytogenetic Map7q33UniSTS
HuRef7128,141,385 - 128,141,724UniSTS
CRA_TCAGchr7v27133,184,332 - 133,184,671UniSTS
TNG Radiation Hybrid Map769315.0UniSTS
D7S725  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377133,915,866 - 133,916,056UniSTSGRCh37
Build 367133,566,406 - 133,566,596RGDNCBI36
Celera7128,653,340 - 128,653,530RGD
Cytogenetic Map7q33UniSTS
HuRef7128,217,687 - 128,217,877UniSTS
CRA_TCAGchr7v27133,260,403 - 133,260,593UniSTS
D7S631  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q33UniSTS
Stanford-G3 RH Map76604.0UniSTS
NCBI RH Map71361.5UniSTS
GeneMap99-G3 RH Map76604.0UniSTS
D7S2438  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q33UniSTS
Marshfield Genetic Map7138.42UniSTS
Genethon Genetic Map7139.6UniSTS
TNG Radiation Hybrid Map769261.0UniSTS
Stanford-G3 RH Map76611.0UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map71364.0UniSTS
GeneMap99-G3 RH Map76611.0UniSTS


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 1 1 1 1 10 2 202 4
Low 508 146 1203 289 525 155 1729 125 938 241 768 1272 138 1 584 723 1
Below cutoff 1894 2665 499 311 1230 287 2548 1974 2768 172 476 317 35 620 1999 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001365700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001401519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_144648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_174939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000285928   ⟹   ENSP00000285928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7134,127,340 - 134,264,595 (+)Ensembl
RefSeq Acc Id: ENST00000473068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7134,127,358 - 134,141,698 (+)Ensembl
RefSeq Acc Id: ENST00000645682   ⟹   ENSP00000495637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7134,127,299 - 134,210,256 (+)Ensembl
RefSeq Acc Id: ENST00000695542   ⟹   ENSP00000511999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7134,127,340 - 134,211,727 (+)Ensembl
RefSeq Acc Id: ENST00000695543   ⟹   ENSP00000512000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7134,199,370 - 134,204,280 (+)Ensembl
RefSeq Acc Id: NM_001365700   ⟹   NP_001352629
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387134,127,340 - 134,212,662 (+)NCBI
T2T-CHM13v2.07135,435,451 - 135,520,779 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001365701   ⟹   NP_001352630
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387134,127,340 - 134,212,662 (+)NCBI
T2T-CHM13v2.07135,435,451 - 135,520,779 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001401519   ⟹   NP_001388448
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387134,127,340 - 134,204,351 (+)NCBI
T2T-CHM13v2.07135,435,451 - 135,512,468 (+)NCBI
RefSeq Acc Id: NM_144648   ⟹   NP_653249
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387134,127,340 - 134,264,595 (+)NCBI
GRCh377133,812,105 - 133,948,933 (+)RGD
Build 367133,462,645 - 133,599,473 (+)NCBI Archive
Celera7128,549,620 - 128,686,380 (+)RGD
HuRef7128,113,745 - 128,250,751 (+)RGD
CHM1_17133,746,675 - 133,883,286 (+)NCBI
T2T-CHM13v2.07135,435,451 - 135,572,717 (+)NCBI
CRA_TCAGchr7v27133,156,684 - 133,293,312 (+)RGD
Sequence:
RefSeq Acc Id: NR_174939
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387134,127,340 - 134,204,351 (+)NCBI
T2T-CHM13v2.07135,435,451 - 135,512,468 (+)NCBI
RefSeq Acc Id: XM_024446658   ⟹   XP_024302426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387134,127,340 - 134,212,662 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024446659   ⟹   XP_024302427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387134,127,340 - 134,276,685 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024446661   ⟹   XP_024302429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387134,127,340 - 134,262,154 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024446662   ⟹   XP_024302430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387134,127,340 - 134,222,610 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047419889   ⟹   XP_047275845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387134,127,340 - 134,212,662 (+)NCBI
RefSeq Acc Id: XM_047419890   ⟹   XP_047275846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387134,127,340 - 134,264,595 (+)NCBI
RefSeq Acc Id: XM_054357254   ⟹   XP_054213229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07135,424,298 - 135,520,779 (+)NCBI
RefSeq Acc Id: XM_054357255   ⟹   XP_054213230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07135,426,281 - 135,520,779 (+)NCBI
RefSeq Acc Id: XM_054357256   ⟹   XP_054213231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07135,435,451 - 135,520,779 (+)NCBI
RefSeq Acc Id: XM_054357257   ⟹   XP_054213232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07135,435,451 - 135,520,779 (+)NCBI
RefSeq Acc Id: XM_054357258   ⟹   XP_054213233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07135,435,451 - 135,584,803 (+)NCBI
RefSeq Acc Id: XM_054357259   ⟹   XP_054213234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07135,435,451 - 135,570,252 (+)NCBI
RefSeq Acc Id: XM_054357260   ⟹   XP_054213235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07135,435,451 - 135,572,717 (+)NCBI
RefSeq Acc Id: XM_054357261   ⟹   XP_054213236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07135,435,451 - 135,530,723 (+)NCBI
RefSeq Acc Id: XR_002956408
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387134,127,340 - 134,221,862 (+)NCBI
Sequence:
RefSeq Acc Id: XR_008487528
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07135,435,451 - 135,529,975 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001352629 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352630 (Get FASTA)   NCBI Sequence Viewer  
  NP_001388448 (Get FASTA)   NCBI Sequence Viewer  
  NP_653249 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302426 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302427 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302429 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302430 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275845 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275846 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213229 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213230 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213231 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213232 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213233 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213234 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213235 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213236 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI04898 (Get FASTA)   NCBI Sequence Viewer  
  AAI04900 (Get FASTA)   NCBI Sequence Viewer  
  BAB71441 (Get FASTA)   NCBI Sequence Viewer  
  EAL24072 (Get FASTA)   NCBI Sequence Viewer  
  EAW83807 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000285928
  ENSP00000285928.2
  ENSP00000495637
  ENSP00000495637.1
  ENSP00000511999
  ENSP00000511999.1
  ENSP00000512000.1
GenBank Protein Q96M69 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_653249   ⟸   NM_144648
- Peptide Label: isoform 3
- UniProtKB: Q2M3I1 (UniProtKB/Swiss-Prot),   Q96M69 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024302427   ⟸   XM_024446659
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024302429   ⟸   XM_024446661
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024302430   ⟸   XM_024446662
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_024302426   ⟸   XM_024446658
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001352629   ⟸   NM_001365700
- Peptide Label: isoform 1
- UniProtKB: A0A8Q3SI13 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001352630   ⟸   NM_001365701
- Peptide Label: isoform 2
- UniProtKB: A0A2R8YEJ5 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000285928   ⟸   ENST00000285928
RefSeq Acc Id: ENSP00000495637   ⟸   ENST00000645682
RefSeq Acc Id: ENSP00000511999   ⟸   ENST00000695542
RefSeq Acc Id: ENSP00000512000   ⟸   ENST00000695543
RefSeq Acc Id: XP_047275846   ⟸   XM_047419890
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047275845   ⟸   XM_047419889
- Peptide Label: isoform X2
RefSeq Acc Id: NP_001388448   ⟸   NM_001401519
- Peptide Label: isoform 4
RefSeq Acc Id: XP_054213229   ⟸   XM_054357254
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054213230   ⟸   XM_054357255
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054213233   ⟸   XM_054357258
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054213235   ⟸   XM_054357260
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054213234   ⟸   XM_054357259
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054213236   ⟸   XM_054357261
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054213231   ⟸   XM_054357256
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054213232   ⟸   XM_054357257
- Peptide Label: isoform X2
Protein Domains
Guanylate kinase-like   LRRCT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96M69-F1-model_v2 AlphaFold Q96M69 1-825 view protein structure

Promoters
RGD ID:6805883
Promoter ID:HG_KWN:59767
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000339442,   OTTHUMT00000339443
Position:
Human AssemblyChrPosition (strand)Source
Build 367133,462,296 - 133,462,796 (+)MPROMDB
RGD ID:7211955
Promoter ID:EPDNEW_H11723
Type:initiation region
Name:LRGUK_1
Description:leucine rich repeats and guanylate kinase domain containing
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
GRCh387134,127,358 - 134,127,418EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21964 AgrOrtholog
COSMIC LRGUK COSMIC
Ensembl Genes ENSG00000155530 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000285928 ENTREZGENE
  ENST00000285928.3 UniProtKB/Swiss-Prot
  ENST00000645682 ENTREZGENE
  ENST00000645682.1 UniProtKB/TrEMBL
  ENST00000695542 ENTREZGENE
  ENST00000695542.2 UniProtKB/TrEMBL
  ENST00000695543.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000155530 GTEx
HGNC ID HGNC:21964 ENTREZGENE
Human Proteome Map LRGUK Human Proteome Map
InterPro GK/Ca_channel_bsu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Guanylate_kin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:136332 UniProtKB/Swiss-Prot
NCBI Gene 136332 ENTREZGENE
OMIM 616478 OMIM
PANTHER GUANYLATE KINASE-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LEUCINE-RICH REPEAT AND GUANYLATE KINASE DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Guanylate_kin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162394330 PharmGKB
PROSITE GUANYLATE_KINASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART GuKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_SD22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP L domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8YEJ5 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3SI13 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3SIT3_HUMAN UniProtKB/TrEMBL
  LRGUK_HUMAN UniProtKB/Swiss-Prot
  Q2M3I1 ENTREZGENE
  Q96M69 ENTREZGENE
UniProt Secondary Q2M3I1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-14 LRGUK  leucine rich repeats and guanylate kinase domain containing    leucine-rich repeats and guanylate kinase domain containing  Symbol and/or name change 5135510 APPROVED