LRRC59 (leucine rich repeat containing 59)

Gene: LRRC59 (leucine rich repeat containing 59) Homo sapiens

Analyze

Symbol:

LRRC59

Name:

leucine rich repeat containing 59

RGD ID:

1605059

HGNC Page

HGNC:28817

Description:

Enables RNA binding activity and cadherin binding activity. Predicted to be involved in signal transduction. Located in endoplasmic reticulum and mitochondrial nucleoid.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

FLJ21675; leucine-rich repeat-containing protein 59; p34; PRO1855; ribosome-binding protein p34

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Lrrc59 (leucine rich repeat containing 59)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Lrrc59 (leucine rich repeat containing 59)	HGNC	EggNOG, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Lrrc59 (leucine rich repeat containing 59)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	LRRC59 (leucine rich repeat containing 59)	NCBI	Ortholog
Canis lupus familiaris (dog):	LRRC59 (leucine rich repeat containing 59)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Lrrc59 (leucine rich repeat containing 59)	NCBI	Ortholog
Sus scrofa (pig):	LRRC59 (leucine rich repeat containing 59)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	LRRC59 (leucine rich repeat containing 59)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Lrrc59 (leucine rich repeat containing 59)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Rab40c (Rab40c, member RAS oncogene family)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Lrrc59 (leucine rich repeat containing 59)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Lrrc59 (leucine rich repeat containing 59)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	lrrc59 (leucine rich repeat containing 59)	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	F56A8.3	Alliance	DIOPT (Hieranoid\|OrthoInspector)
Drosophila melanogaster (fruit fly):	CG3408	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	lrrc59	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	lrrc59.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	lrrc59.L	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

LOC100131126 LOC642554

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	50,381,238 - 50,397,523 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	50,375,059 - 50,397,523 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	48,458,599 - 48,474,884 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	45,813,598 - 45,829,831 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	17	44,919,883 - 44,936,207 (-)	NCBI		Celera
Cytogenetic Map	17	q21.33	NCBI
HuRef	17	43,826,456 - 43,842,733 (-)	NCBI		HuRef
CHM1_1	17	48,522,442 - 48,538,780 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	51,248,223 - 51,264,511 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

glioblastoma (EXP)

hepatocellular carcinoma (EXP)

lung non-small cell carcinoma (EXP)

Lymphatic Metastasis (EXP)

osteogenesis imperfecta type 1 (IAGP)

Ovarian Neoplasms (EXP)

trichodontoosseous syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

1,2-dichloroethane (ISO)

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP,ISO)

17beta-hydroxy-5alpha-androstan-3-one (EXP)

2,2',4,4'-Tetrabromodiphenyl ether (EXP,ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,3,7,8-Tetrachlorodibenzofuran (ISO)

2,4,6-tribromophenol (EXP)

2,4,6-trinitrotoluene (ISO)

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-sulfonyldiphenol (EXP)

4-hydroxynon-2-enal (EXP)

6-propyl-2-thiouracil (ISO)

acrylamide (ISO)

amitrole (ISO)

antirheumatic drug (EXP)

arsenous acid (EXP)

bisphenol A (EXP,ISO)

Bisphenol B (EXP)

bisphenol F (EXP)

Brodifacoum (ISO)

buspirone (ISO)

cadmium atom (EXP)

cadmium dichloride (EXP)

carbon nanotube (ISO)

CGP 52608 (EXP)

chlorpyrifos (ISO)

cisplatin (EXP)

cobalt dichloride (ISO)

CU-O LINKAGE (EXP)

cyclosporin A (EXP)

dexamethasone (EXP)

diarsenic trioxide (EXP)

dibutyl phthalate (ISO)

dioxygen (ISO)

doxorubicin (EXP)

endosulfan (ISO)

enzyme inhibitor (EXP)

epoxiconazole (ISO)

ethanol (ISO)

fenthion (ISO)

fipronil (ISO)

flutamide (ISO)

folic acid (ISO)

formaldehyde (EXP)

FR900359 (EXP)

furan (ISO)

glafenine (ISO)

indometacin (EXP)

inulin (ISO)

ivermectin (EXP)

methimazole (ISO)

methylisothiazolinone (EXP)

N-nitrosodiethylamine (ISO)

nefazodone (ISO)

nickel atom (EXP)

ozone (ISO)

paracetamol (EXP,ISO)

paraquat (ISO)

perfluorohexanesulfonic acid (ISO)

perfluorooctane-1-sulfonic acid (ISO)

phenobarbital (ISO)

pirinixic acid (ISO)

pregnenolone 16alpha-carbonitrile (ISO)

propiconazole (ISO)

SB 431542 (EXP)

senecionine (ISO)

silicon dioxide (ISO)

sodium fluoride (ISO)

sulfadimethoxine (ISO)

testosterone (ISO)

tetrachloromethane (ISO)

thapsigargin (ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

tolcapone (ISO)

trichloroethene (ISO)

trimellitic anhydride (ISO)

valproic acid (EXP,ISO)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

signal transduction (IBA)

Cellular Component

cytoplasm (IBA)

endoplasmic reticulum (IDA,IEA)

endoplasmic reticulum membrane (IEA)

membrane (HDA,IEA)

mitochondrial nucleoid (IDA)

nuclear envelope (IEA)

nucleus (IEA)

Molecular Function

cadherin binding (HDA)

protein binding (IPI)

protein serine/threonine phosphatase activity (IBA)

RNA binding (HDA)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8889548	PMID:12477932	PMID:12665801	PMID:15489334	PMID:16344560	PMID:16541025	PMID:16751776	PMID:17215244	PMID:17353931	PMID:17361185	PMID:18029348	PMID:18063578
PMID:19615732	PMID:19710015	PMID:19738201	PMID:19946888	PMID:20848231	PMID:21145461	PMID:21832049	PMID:21873635	PMID:21907836	PMID:22113938	PMID:22119785	PMID:22199357
PMID:22321063	PMID:22412018	PMID:22623428	PMID:22658674	PMID:22810586	PMID:22939629	PMID:23125841	PMID:23246001	PMID:24711643	PMID:24999758	PMID:25437307	PMID:25468996
PMID:25817432	PMID:25833693	PMID:25852190	PMID:25921289	PMID:25940091	PMID:25963833	PMID:26186194	PMID:26209609	PMID:26344197	PMID:26466955	PMID:26472760	PMID:26496610
PMID:26514267	PMID:26549023	PMID:26638075	PMID:26641092	PMID:26831064	PMID:26972000	PMID:27025967	PMID:27342126	PMID:27545878	PMID:27634302	PMID:27684187	PMID:28031328
PMID:28514442	PMID:28515276	PMID:28533407	PMID:28685749	PMID:28977666	PMID:29128334	PMID:29180619	PMID:29229926	PMID:29298432	PMID:29395067	PMID:29478914	PMID:29507755
PMID:29509190	PMID:29509794	PMID:29568061	PMID:29802200	PMID:29987050	PMID:30021884	PMID:30194290	PMID:30209976	PMID:30442662	PMID:30463901	PMID:30575818	PMID:30585729
PMID:30650545	PMID:30711629	PMID:30804502	PMID:30833792	PMID:30940648	PMID:30948266	PMID:30997501	PMID:31046837	PMID:31048545	PMID:31059266	PMID:31068071	PMID:31073040
PMID:31091453	PMID:31177093	PMID:31180492	PMID:31239290	PMID:31324722	PMID:31343991	PMID:31501420	PMID:31536960	PMID:31586073	PMID:31594818	PMID:31615875	PMID:31732153
PMID:31796584	PMID:31871319	PMID:31980649	PMID:31985874	PMID:32129710	PMID:32203420	PMID:32296183	PMID:32416067	PMID:32552912	PMID:32665550	PMID:32687490	PMID:32707033
PMID:32788342	PMID:32807901	PMID:32850835	PMID:32877691	PMID:32913203	PMID:32941674	PMID:33022573	PMID:33024031	PMID:33194618	PMID:33239621	PMID:33301849	PMID:33306668
PMID:33545068	PMID:33644029	PMID:33660365	PMID:33916271	PMID:33957083	PMID:34079125	PMID:34226595	PMID:34597346	PMID:34650049	PMID:34709727	PMID:34901782	PMID:34917906
PMID:35013218	PMID:35031058	PMID:35063084	PMID:35140242	PMID:35241646	PMID:35256949	PMID:35271311	PMID:35356984	PMID:35384245	PMID:35446349	PMID:35545034	PMID:35562734
PMID:35563538	PMID:35676659	PMID:35696571	PMID:35819319	PMID:35831895	PMID:35850772	PMID:35864588	PMID:35944360	PMID:36042349	PMID:36057605	PMID:36089195	PMID:36114006
PMID:36215168	PMID:36232890	PMID:36244648	PMID:36339263	PMID:36373674	PMID:36517590	PMID:36526897	PMID:36574265	PMID:36610398	PMID:36634849	PMID:36779763	PMID:37232246
PMID:37616343	PMID:37689310	PMID:37706625	PMID:37774976	PMID:37827155	PMID:37931956	PMID:38113892

Genomics

Comparative Map Data

LRRC59
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	50,381,238 - 50,397,523 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	50,375,059 - 50,397,523 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	48,458,599 - 48,474,884 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	45,813,598 - 45,829,831 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	17	44,919,883 - 44,936,207 (-)	NCBI		Celera
Cytogenetic Map	17	q21.33	NCBI
HuRef	17	43,826,456 - 43,842,733 (-)	NCBI		HuRef
CHM1_1	17	48,522,442 - 48,538,780 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	51,248,223 - 51,264,511 (-)	NCBI		T2T-CHM13v2.0

Lrrc59
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	94,520,603 - 94,536,049 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	94,520,593 - 94,536,042 (+)	Ensembl		GRCm39 Ensembl
GRCm38	11	94,629,777 - 94,645,223 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	94,629,767 - 94,645,216 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	94,491,138 - 94,506,530 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	94,445,914 - 94,461,306 (+)	NCBI		MGSCv36	mm8
Celera	11	104,247,327 - 104,262,759 (+)	NCBI		Celera
Cytogenetic Map	11	D	NCBI
cM Map	11	58.9	NCBI

Lrrc59
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	80,069,162 - 80,083,820 (+)	NCBI		GRCr8
mRatBN7.2	10	79,572,295 - 79,586,953 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	79,572,317 - 79,602,533 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	84,177,036 - 84,191,592 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	83,675,116 - 83,689,668 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	79,190,586 - 79,205,104 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	82,352,390 - 82,367,047 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	82,352,390 - 82,367,047 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	82,171,007 - 82,185,664 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	83,264,264 - 83,278,807 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	10	83,278,633 - 83,293,177 (+)	NCBI
Celera	10	78,359,448 - 78,373,949 (+)	NCBI		Celera
Cytogenetic Map	10	q26	NCBI

Lrrc59
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955451	11,315,725 - 11,332,394 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955451	11,316,139 - 11,328,107 (+)	NCBI	ChiLan1.0	ChiLan1.0

LRRC59
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	19	66,573,079 - 66,589,868 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	17	71,380,168 - 71,400,156 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	17	44,475,661 - 44,492,021 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	17	49,349,738 - 49,366,039 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	49,349,738 - 49,366,039 (-)	Ensembl	panpan1.1		panPan2

LRRC59
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	26,350,300 - 26,364,021 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	26,351,734 - 26,364,082 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	25,743,300 - 25,757,075 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	27,144,701 - 27,158,485 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	27,141,195 - 27,158,487 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	25,912,485 - 25,926,266 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	26,171,174 - 26,184,936 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	26,301,200 - 26,314,976 (-)	NCBI		UU_Cfam_GSD_1.0

Lrrc59
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405602	25,767,919 - 25,778,543 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936490	11,296,530 - 11,310,946 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936490	11,296,590 - 11,308,379 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

LRRC59
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	12	26,677,226 - 26,694,279 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	12	26,678,207 - 26,694,277 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	12	26,587,660 - 26,603,718 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

LRRC59
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	16	42,931,726 - 42,949,281 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	16	42,932,549 - 42,947,655 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666077	13,648,003 - 13,665,008 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Lrrc59
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624795	6,316,472 - 6,329,166 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624795	6,317,677 - 6,328,554 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in LRRC59
19 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	copy number gain	See cases [RCV000050957]	Chr17:36449220..68170214 [GRCh38] Chr17:48563237..65936105 [GRCh37] Chr17:45918236..63677950 [NCBI36] Chr17:17q21.33-24.2	pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]\|See cases [RCV000052483]	Chr17:36449220..83086677 [GRCh38] Chr17:58617905..81044553 [GRCh37] Chr17:55972687..78637842 [NCBI36] Chr17:17q23.2-25.3	pathogenic
GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	copy number loss	See cases [RCV000053432]	Chr17:49137864..52147810 [GRCh38] Chr17:47215226..50225170 [GRCh37] Chr17:44570225..47580169 [NCBI36] Chr17:17q21.32-22	pathogenic
GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	copy number loss	See cases [RCV000053433]	Chr17:49974533..56807609 [GRCh38] Chr17:48051897..54884970 [GRCh37] Chr17:45406896..52239969 [NCBI36] Chr17:17q21.33-22	pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	copy number gain	See cases [RCV000137437]	Chr17:36449220..75053130 [GRCh38] Chr17:57595736..73049225 [GRCh37] Chr17:54950518..70560820 [NCBI36] Chr17:17q23.1-25.1	pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	copy number gain	See cases [RCV000447823]	Chr17:42580684..81085615 [GRCh37] Chr17:17q21.31-25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	copy number gain	See cases [RCV000511439]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
NM_018509.4(LRRC59):c.30C>A (p.Asn10Lys)	single nucleotide variant	Inborn genetic diseases [RCV003256279]	Chr17:50397288 [GRCh38] Chr17:48474649 [GRCh37] Chr17:17q21.33	uncertain significance
NM_018509.4(LRRC59):c.481C>T (p.Arg161Trp)	single nucleotide variant	Inborn genetic diseases [RCV003300034]	Chr17:50388081 [GRCh38] Chr17:48465442 [GRCh37] Chr17:17q21.33	uncertain significance
NM_018509.4(LRRC59):c.722A>G (p.His241Arg)	single nucleotide variant	Inborn genetic diseases [RCV003308507]	Chr17:50383190 [GRCh38] Chr17:48460551 [GRCh37] Chr17:17q21.33	uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	copy number gain	See cases [RCV000512441]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	copy number loss	not provided [RCV000513510]	Chr17:46481089..51396368 [GRCh37] Chr17:17q21.32-22	likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3	copy number gain	not provided [RCV000739325]	Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3	copy number gain	not provided [RCV000739324]	Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3	copy number gain	not provided [RCV000739320]	Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
NM_018509.4(LRRC59):c.779C>T (p.Ala260Val)	single nucleotide variant	Inborn genetic diseases [RCV003271911]	Chr17:50383133 [GRCh38] Chr17:48460494 [GRCh37] Chr17:17q21.33	uncertain significance
NM_018509.4(LRRC59):c.800G>A (p.Arg267Gln)	single nucleotide variant	Inborn genetic diseases [RCV002683675]	Chr17:50383112 [GRCh38] Chr17:48460473 [GRCh37] Chr17:17q21.33	uncertain significance
NM_018509.4(LRRC59):c.910G>A (p.Asp304Asn)	single nucleotide variant	Inborn genetic diseases [RCV002686907]	Chr17:50383002 [GRCh38] Chr17:48460363 [GRCh37] Chr17:17q21.33	uncertain significance
NM_018509.4(LRRC59):c.638A>C (p.Gln213Pro)	single nucleotide variant	Inborn genetic diseases [RCV002911704]	Chr17:50385156 [GRCh38] Chr17:48462517 [GRCh37] Chr17:17q21.33	uncertain significance
NM_018509.4(LRRC59):c.674C>T (p.Pro225Leu)	single nucleotide variant	Inborn genetic diseases [RCV002799524]	Chr17:50385120 [GRCh38] Chr17:48462481 [GRCh37] Chr17:17q21.33	uncertain significance
NM_018509.4(LRRC59):c.860C>T (p.Ala287Val)	single nucleotide variant	Inborn genetic diseases [RCV002998543]	Chr17:50383052 [GRCh38] Chr17:48460413 [GRCh37] Chr17:17q21.33	uncertain significance
NM_018509.4(LRRC59):c.287A>G (p.Lys96Arg)	single nucleotide variant	Inborn genetic diseases [RCV002868610]	Chr17:50392776 [GRCh38] Chr17:48470137 [GRCh37] Chr17:17q21.33	likely benign
NM_018509.4(LRRC59):c.409T>C (p.Cys137Arg)	single nucleotide variant	Inborn genetic diseases [RCV002661965]	Chr17:50392418 [GRCh38] Chr17:48469779 [GRCh37] Chr17:17q21.33	uncertain significance
NM_018509.4(LRRC59):c.728G>A (p.Arg243His)	single nucleotide variant	Inborn genetic diseases [RCV002782152]	Chr17:50383184 [GRCh38] Chr17:48460545 [GRCh37] Chr17:17q21.33	uncertain significance
NM_018509.4(LRRC59):c.87G>C (p.Glu29Asp)	single nucleotide variant	Inborn genetic diseases [RCV002802467]	Chr17:50397231 [GRCh38] Chr17:48474592 [GRCh37] Chr17:17q21.33	uncertain significance
NM_018509.4(LRRC59):c.469C>T (p.Arg157Trp)	single nucleotide variant	Inborn genetic diseases [RCV002655408]	Chr17:50388093 [GRCh38] Chr17:48465454 [GRCh37] Chr17:17q21.33	uncertain significance
NM_018509.4(LRRC59):c.155C>T (p.Thr52Ile)	single nucleotide variant	Inborn genetic diseases [RCV003192043]	Chr17:50394939 [GRCh38] Chr17:48472300 [GRCh37] Chr17:17q21.33	uncertain significance
NM_018509.4(LRRC59):c.125C>T (p.Thr42Ile)	single nucleotide variant	Inborn genetic diseases [RCV003206947]	Chr17:50394969 [GRCh38] Chr17:48472330 [GRCh37] Chr17:17q21.33	uncertain significance
NM_018509.4(LRRC59):c.179G>A (p.Gly60Asp)	single nucleotide variant	Inborn genetic diseases [RCV003213480]	Chr17:50392884 [GRCh38] Chr17:48470245 [GRCh37] Chr17:17q21.33	uncertain significance
NM_018509.4(LRRC59):c.697C>T (p.Pro233Ser)	single nucleotide variant	Inborn genetic diseases [RCV003196141]	Chr17:50383215 [GRCh38] Chr17:48460576 [GRCh37] Chr17:17q21.33	uncertain significance
NM_018509.4(LRRC59):c.709C>T (p.Pro237Ser)	single nucleotide variant	Inborn genetic diseases [RCV003180650]	Chr17:50383203 [GRCh38] Chr17:48460564 [GRCh37] Chr17:17q21.33	uncertain significance
Single allele	deletion	Osteogenesis imperfecta type I [RCV003494598]	Chr17:48201213..48507464 [GRCh37] Chr17:17q21.33	pathogenic
Single allele	deletion	Tricho-dento-osseous syndrome [RCV003494599]	Chr17:46740736..48853218 [GRCh37] Chr17:17q21.32-21.33	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1456
Count of miRNA genes:	883
Interacting mature miRNAs:	1014
Transcripts:	ENST00000225972, ENST00000503118, ENST00000576448
Prediction methods:	Miranda, Pita, 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

G62125

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	48,458,827 - 48,458,985	UniSTS	GRCh37
Build 36	17	45,813,826 - 45,813,984	RGD	NCBI36
Celera	17	44,920,116 - 44,920,274	RGD
Cytogenetic Map	17	q21.33	UniSTS
HuRef	17	43,826,689 - 43,826,847	UniSTS

SGC32559

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	48,458,686 - 48,458,770	UniSTS	GRCh37
Build 36	17	45,813,685 - 45,813,769	RGD	NCBI36
Celera	17	44,919,975 - 44,920,059	RGD
Cytogenetic Map	17	q21.33	UniSTS
HuRef	17	43,826,548 - 43,826,632	UniSTS
GeneMap99-GB4 RH Map	17	352.21	UniSTS
Whitehead-RH Map	17	388.4	UniSTS
NCBI RH Map	17	604.8	UniSTS

EME1__7583

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	48,458,124 - 48,458,862	UniSTS	GRCh37
Build 36	17	45,813,123 - 45,813,861	RGD	NCBI36
Celera	17	44,919,413 - 44,920,151	RGD
HuRef	17	43,825,986 - 43,826,724	UniSTS

G20838

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	48,458,754 - 48,458,877	UniSTS	GRCh37
Build 36	17	45,813,753 - 45,813,876	RGD	NCBI36
Celera	17	44,920,043 - 44,920,166	RGD
Cytogenetic Map	17	q21.33	UniSTS
HuRef	17	43,826,616 - 43,826,739	UniSTS

A006I13

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	48,458,754 - 48,458,877	UniSTS	GRCh37
Build 36	17	45,813,753 - 45,813,876	RGD	NCBI36
Celera	17	44,920,043 - 44,920,166	RGD
Cytogenetic Map	17	q21.33	UniSTS
HuRef	17	43,826,616 - 43,826,739	UniSTS
GeneMap99-GB4 RH Map	17	347.1	UniSTS
NCBI RH Map	17	604.8	UniSTS

WI-11424

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	48,458,639 - 48,458,741	UniSTS	GRCh37
Build 36	17	45,813,638 - 45,813,740	RGD	NCBI36
Celera	17	44,919,928 - 44,920,030	RGD
Cytogenetic Map	17	q21.33	UniSTS
HuRef	17	43,826,501 - 43,826,603	UniSTS
GeneMap99-GB4 RH Map	17	351.48	UniSTS
Whitehead-RH Map	17	389.6	UniSTS
NCBI RH Map	17	604.8	UniSTS

RH48149

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	48,460,029 - 48,460,172	UniSTS	GRCh37
Build 36	17	45,815,028 - 45,815,171	RGD	NCBI36
Celera	17	44,921,318 - 44,921,461	RGD
Cytogenetic Map	17	q21.33	UniSTS
HuRef	17	43,827,891 - 43,828,034	UniSTS
GeneMap99-GB4 RH Map	17	351.58	UniSTS
NCBI RH Map	17	604.8	UniSTS

G09433

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	48,465,874 - 48,465,992	UniSTS	GRCh37
Build 36	17	45,820,873 - 45,820,991	RGD	NCBI36
Celera	17	44,927,165 - 44,927,283	RGD
Cytogenetic Map	17	q21.33	UniSTS
HuRef	17	43,833,693 - 43,833,811	UniSTS

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

2436

2464

1694

594

1696

435

4093

1721

3027

404

1459

1611

175

1204

2530

Low

527

255

264

476

707

258

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_018509	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC004707	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF119857	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK025328	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK130572	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK316593	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC017168	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC033695	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC052279	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM664133	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471109	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA782636	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ579028	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000225972 ⟹ ENSP00000225972

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	50,381,238 - 50,397,523 (-)	Ensembl

RefSeq Acc Id:

ENST00000503118 ⟹ ENSP00000459616

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	50,375,059 - 50,385,134 (-)	Ensembl

RefSeq Acc Id:

ENST00000576448 ⟹ ENSP00000459305

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	50,395,974 - 50,397,504 (-)	Ensembl

RefSeq Acc Id:

NM_018509 ⟹ NP_060979

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	50,381,238 - 50,397,523 (-)	NCBI
GRCh37	17	48,458,594 - 48,474,914 (-)	RGD
Build 36	17	45,813,598 - 45,829,831 (-)	NCBI Archive
Celera	17	44,919,883 - 44,936,207 (-)	RGD
HuRef	17	43,826,456 - 43,842,733 (-)	RGD
CHM1_1	17	48,522,442 - 48,538,780 (-)	NCBI
T2T-CHM13v2.0	17	51,248,223 - 51,264,511 (-)	NCBI

Sequence:

show sequence

ACGGAAGTGGTCGTCGTCGCGGCACCGGTGGGAGCTAGGCGCGAGGCTCGGAGTGCGGCCAGCG
GGCGGAGGCGGTCTCGCATCGGCGGCGACGGAGGGCTCAGGCGTCGTCGTTTGGGTGGGGGGCC
GCTGAACTGACAAGCGACATTTCAGCTCCTTTCACCCGCCGGAACCCCGGAGCCGGGGCCCGCT
CAGCCGGCGTTACCATGACCAAGGCCGGTAGCAAGGGCGGGAACCTCCGCGACAAGCTGGACGG
CAACGAACTGGACCTGAGCCTCAGCGACCTGAATGAGGTCCCGGTGAAGGAGCTGGCTGCCCTT
CCAAAGGCCACCATCCTGGATCTGTCTTGTAATAAACTGACTACTCTACCGTCGGATTTCTGTG
GCCTCACACACCTGGTGAAGCTAGACCTGAGTAAGAACAAGCTGCAGCAGCTGCCAGCAGACTT
TGGCCGTCTGGTCAACCTCCAGCACCTGGATCTCCTCAACAACAAGCTGGTCACCTTGCCTGTC
AGCTTTGCTCAGCTCAAGAACCTGAAGTGGTTGGACCTGAAGGATAACCCCCTGGATCCTGTCC
TGGCCAAGGTGGCAGGTGACTGCTTGGATGAGAAGCAGTGTAAGCAGTGTGCAAACAAGGTGTT
ACAGCACATGAAGGCCGTGCAGGCAGATCAGGAGCGGGAGAGGCAGCGGCGGCTGGAAGTAGAA
CGTGAGGCAGAGAAGAAGCGTGAGGCTAAGCAGCGAGCTAAGGAAGCTCAGGAGCGGGAACTGC
GGAAGCGGGAGAAGGCGGAAGAGAAGGAGCGCCGGAGAAAGGAGTATGATGCCCTCAAAGCAGC
CAAGCGGGAGCAGGAGAAGAAACCTAAGAAGGAAGCAAATCAGGCCCCGAAATCTAAGTCTGGC
TCCCGTCCCCGCAAGCCACCACCCCGGAAGCACACTCGTTCCTGGGCTGTGCTGAAGCTGCTGC
TGCTGCTGCTGCTATTTGGTGTGGCGGGAGGGCTGGTTGCTTGTCGGGTGACAGAGCTGCAGCA
GCAGCCCCTCTGCACCAGCGTGAACACCATCTATGACAATGCGGTCCAGGGTCTACGCCGCCAT
GAGATCCTCCAGTGGGTCCTCCAGACCGACTCTCAGCAGTGAGCTTGTCCCCAGCACCTGCTGC
CTCCCAGCCTTGGAGTTTGGATTCCTATGGAATTGGGTTCTGCTGGACACAACCTCTTTTTAGC
ATCAGACCTACCTGCCATCATCAAATGGCTGCAGATTGGTACATGAGACCTCCTCTTTGTAGGA
CTTCTTCATTCCTTAGTCAGGGTTCCCTGAAGGAATGAGGAGAAATGGGAGGTGGCGGGGGGGC
GTGGGGGGCAGTTACCTGCATGCCTAAAGGAGTAGGCTTGGGGGTGGGGAGAGAGAAAACATAG
CCTTTTCTAGTTGTTATATAAAGCTGTGTAAAGGCAAGGCTCGTTTCTACTAAATGGTCAGCTG
TCACTACATTTATACTTTTGTATGCCACAAACCCTTTCATTCCTCCCTGGGAATCAGGGTAGAT
CAGGAGGAACTGGGGGGGACTAGAACACCACGCTCAGTAAATCCAGTCTAAACTGGGAGGTAGG
GGTATTCCTGTTTTCTTTAGGACCTCAGAGATGTAAGCATTTTAGCAGCCACACAAAATCTCTG
GCTATGAAAGGGACTTCATGACCATCCAGTCCAATATAACACTTGCAGACAGAGAAACTGAGGT
CTTCCATGACTTGCCTAGTCTCCCAGCTAGTTTGAGGCAAAACTGGATTCCCACTCTGGTATTC
TTTCTTCCCTTTACATCATTTTCCCTCCTTTATAATGTCCTGAGAGACCAGAACTCACACCAGA
ATCGATTATTCCTCAGGTGAAGCATAGACTCTTTCATGGTAGACAGATTTCACGACTCAGAGAT
AGAAATCTCTTGCTATCATCAGGTCACGGGCAGCTCCTGTGGAGTCCTGCCCAACTTATGTGGC
TTCCATAAAATGGCAACAGTCCAGGCTCCTTGCCTAATTTTAGAGCATTAACTCCCTAATTGCC
AGTAAGCAAGGAGGTGGATCTCTGCAAACCTACACTGTCTATGACAGCTCTAGTTGTACTTGGT
GTGACTAAATACCTCAAAGGCAACCTGCTTCTGCAGGTTTTGAAGTGTCAGCTTCATAAGACAC
TGAGGTTTAGAATTGTTTGATTCTAGACCATAACTGAAGGGCATAAATGGAAACAGGATATGAA
GGGAAACAAGTAGCATCATGGAGCTGAAAAGTGGTGCATCACCCAATGGCTAGCACAAACAAGG
ATCACACTGTCCATTCTCTTGTCTGCTAAATTAAGCATTTTCTTGCCTCCTTTGCTTCATCTTT
TCACAACAGCTGGATAGAGGGATCAGAAATGACTGTGTCATGGTGCTCATTCACTGCAAACTCC
CAGTTGCAAGCTCCTTGGCTCCCCCGGAGGGAGCAAGAATCTCATAGTTCAGAGACACAGAGGG
CCTTTTAGCCCTAATGACCTTTTGGATGGGACTGCAACTCATGACTATCCTGATATTGGAAGAA
AGGACTTTGTTAATCTTCTCCCCCATAGCTCTGCTGCGTAGGTCTACATCTTACTCAGAATCAC
TACACATTCCTTTAGTCTTCCTCCAAGCTCCAGAGCCATTGGTACAAATGCTTTATTGAAACTA
AATACATAATACACACAATGAGATGAAGACAATATAGAAGTCCGCATAGTCATCATAATCCCGT
TCCTTGGCCGGTTGAGGCAGCTCAGTGGCTGAGCCCAGTCAAGCCAACCCGCAGCTTCACTCAC
GACTTCAAGATTTGATGCTAATTCTTTTGGATTTCTACAGTTATTAAATAAGTGTCTGAGTGGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_060979	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF69611	(Get FASTA)	NCBI Sequence Viewer
	AAH17168	(Get FASTA)	NCBI Sequence Viewer
	AAH52279	(Get FASTA)	NCBI Sequence Viewer
	BAG38180	(Get FASTA)	NCBI Sequence Viewer
	EAW94615	(Get FASTA)	NCBI Sequence Viewer
	EAW94616	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000225972
	ENSP00000225972.7
	ENSP00000459305.1
	ENSP00000459616.1
GenBank Protein	Q96AG4	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_060979 ⟸ NM_018509

- UniProtKB:

D3DTX8 (UniProtKB/Swiss-Prot), B2RE83 (UniProtKB/Swiss-Prot), Q9P189 (UniProtKB/Swiss-Prot), Q96AG4 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MTKAGSKGGNLRDKLDGNELDLSLSDLNEVPVKELAALPKATILDLSCNKLTTLPSDFCGLTHL
VKLDLSKNKLQQLPADFGRLVNLQHLDLLNNKLVTLPVSFAQLKNLKWLDLKDNPLDPVLAKVA
GDCLDEKQCKQCANKVLQHMKAVQADQERERQRRLEVEREAEKKREAKQRAKEAQERELRKREK
AEEKERRRKEYDALKAAKREQEKKPKKEANQAPKSKSGSRPRKPPPRKHTRSWAVLKLLLLLLL
FGVAGGLVACRVTELQQQPLCTSVNTIYDNAVQGLRRHEILQWVLQTDSQQ

hide sequence

RefSeq Acc Id:

ENSP00000459616 ⟸ ENST00000503118

RefSeq Acc Id:

ENSP00000459305 ⟸ ENST00000576448

RefSeq Acc Id:

ENSP00000225972 ⟸ ENST00000225972

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q96AG4-F1-model_v2	AlphaFold	Q96AG4	1-307	view protein structure

Promoters

RGD ID:

6794289

Promoter ID:

HG_KWN:26573

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:

NM_018509

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	17	45,829,611 - 45,830,111 (-)	MPROMDB

RGD ID:

7235647

Promoter ID:

EPDNEW_H23567

Type:

initiation region

Name:

LRRC59_1

Description:

leucine rich repeat containing 59

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	50,397,500 - 50,397,560	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:28817	AgrOrtholog
COSMIC	LRRC59	COSMIC
Ensembl Genes	ENSG00000108829	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000225972	ENTREZGENE
	ENST00000225972.8	UniProtKB/Swiss-Prot
	ENST00000503118.2	UniProtKB/TrEMBL
	ENST00000576448.1	UniProtKB/TrEMBL
Gene3D-CATH	3.80.10.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000108829	GTEx
HGNC ID	HGNC:28817	ENTREZGENE
Human Proteome Map	LRRC59	Human Proteome Map
InterPro	Leu-rich_rpt	UniProtKB/Swiss-Prot
	Leu-rich_rpt_typical-subtyp	UniProtKB/Swiss-Prot
	LRR_dom_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:55379	UniProtKB/Swiss-Prot
NCBI Gene	55379	ENTREZGENE
OMIM	614854	OMIM
PANTHER	LEUCINE-RICH REPEAT-CONTAINING	UniProtKB/Swiss-Prot
	LEUCINE-RICH REPEAT-CONTAINING PROTEIN 59	UniProtKB/Swiss-Prot
Pfam	LRR_1	UniProtKB/Swiss-Prot
	LRR_8	UniProtKB/Swiss-Prot
PharmGKB	PA142671518	PharmGKB
PRINTS	LEURICHRPT	UniProtKB/Swiss-Prot
PROSITE	LRR	UniProtKB/Swiss-Prot
SMART	LRR_TYP	UniProtKB/Swiss-Prot
Superfamily-SCOP	L domain-like	UniProtKB/Swiss-Prot
UniProt	B2RE83	ENTREZGENE
	D3DTX8	ENTREZGENE
	I3L223_HUMAN	UniProtKB/TrEMBL
	I3L2E8_HUMAN	UniProtKB/TrEMBL
	LRC59_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q9P189	ENTREZGENE
UniProt Secondary	B2RE83	UniProtKB/Swiss-Prot
	D3DTX8	UniProtKB/Swiss-Prot
	Q9P189	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar

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