RBX1 (ring-box 1) - Rat Genome Database

Name: RBX1
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Advanced Search (OLGA)

Gene: RBX1 (ring-box 1) Homo sapiens

Analyze

Symbol:

RBX1

Name:

ring-box 1

RGD ID:

1318229

HGNC Page

HGNC:9928

Description:

Enables several functions, including cullin family protein binding activity; ubiquitin protein ligase binding activity; and ubiquitin-like protein ligase activity. Contributes to ubiquitin-protein transferase activity. Involved in several processes, including positive regulation of intracellular signal transduction; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein modification by small protein conjugation. Located in nucleoplasm. Part of cullin-RING ubiquitin ligase complex. Is active in cytoplasm and nucleus.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

BA554C12.1; E3 ubiquitin-protein ligase RBX1; E3 ubiquitin-protein transferase RBX1; FLJ60363; MGC13357; MGC1481; regulator of cullins 1; RING box protein 1; RING finger protein 75; ring-box 1, E3 ubiquitin protein ligase; RING-box protein 1; RNF75; ROC1; ZYP protein

RGD Orthologs

Alliance Orthologs

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):	Rbx1 (ring-box 1)	HGNC	EggNOG, Ensembl, HGNC, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Rbx1 (ring-box 1)	HGNC	Ensembl, Inparanoid, NCBI, Panther
Chinchilla lanigera (long-tailed chinchilla):	Rbx1 (ring-box 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	RBX1 (ring-box 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	RBX1 (ring-box 1)	HGNC	HomoloGene, NCBI
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Rbx1 (ring-box 1)	NCBI	Ortholog
Sus scrofa (pig):	RBX1 (ring-box 1)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	RBX1 (ring-box 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Rbx1 (ring-box 1)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Rbx1-ps (ring-box 1, pseudogene)	HGNC	HomoloGene
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Rbx1 (ring-box 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Rbx1 (ring-box 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Rbx1-ps (ring-box 1, pseudogene)	Alliance	DIOPT (HGNC)
Danio rerio (zebrafish):	rbx1 (ring-box 1, E3 ubiquitin protein ligase)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	HRT1	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoInspector\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Roc1a	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	rbx-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	rbx1.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	rbx1.L	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

RBX1P1 RBX1P2

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	22	40,951,378 - 40,973,309 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	40,951,347 - 40,973,309 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	41,347,382 - 41,369,313 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	39,677,331 - 39,698,614 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	22	39,671,884 - 39,693,168	NCBI
Celera	22	25,151,059 - 25,172,347 (+)	NCBI		Celera
Cytogenetic Map	22	q13.2	NCBI
HuRef	22	24,308,951 - 24,330,592 (+)	NCBI		HuRef
CHM1_1	22	41,306,113 - 41,327,855 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	22	41,423,571 - 41,445,506 (+)	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

adenylosuccinase lyase deficiency (IAGP)

common variable immunodeficiency 4 (IAGP)

nephronophthisis-like nephropathy 1 (IAGP)

Rubinstein-Taybi syndrome (IAGP)

Stevens-Johnson syndrome (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP)

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

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

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

2-acetamidofluorene (ISO)

4,4'-diaminodiphenylmethane (ISO)

4,4'-sulfonyldiphenol (ISO)

all-trans-retinoic acid (EXP)

amitrole (ISO)

antimycin A (EXP)

arsenite(3-) (EXP)

benzo[a]pyrene (ISO)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

cadmium atom (EXP)

cadmium dichloride (EXP)

caffeine (EXP)

calycosin (EXP)

chloropicrin (EXP)

chlorpyrifos (ISO)

cisplatin (EXP)

cobalt dichloride (EXP)

copper atom (EXP)

copper(0) (EXP)

copper(II) sulfate (EXP)

deguelin (EXP)

dibenzo[a,l]pyrene (ISO)

Dibutyl phosphate (EXP)

diclofenac (ISO)

dicrotophos (EXP)

dinophysistoxin 1 (EXP)

diuron (EXP)

doxorubicin (EXP)

endosulfan (ISO)

ethanol (ISO)

fenofibrate (ISO)

ferroheme b (ISO)

finasteride (ISO)

fipronil (ISO)

flutamide (ISO)

folic acid (ISO)

heme b (ISO)

hypochlorous acid (ISO)

ivermectin (EXP)

leflunomide (ISO)

maneb (ISO)

methimazole (ISO)

nefazodone (ISO)

nimesulide (ISO)

okadaic acid (EXP)

ozone (EXP)

paracetamol (ISO)

paraquat (ISO)

phenobarbital (EXP)

phorbol 13-acetate 12-myristate (EXP)

pinosylvin (EXP)

piroxicam (EXP)

potassium chromate (EXP)

pyrimidifen (EXP)

sertraline (EXP)

sodium arsenate (ISO)

sodium arsenite (EXP)

sodium dichromate (ISO)

solanesol (EXP)

sulindac (ISO)

tamoxifen (ISO)

tebufenpyrad (EXP)

thifluzamide (EXP)

titanium dioxide (ISO)

trans-pinosylvin (EXP)

trovafloxacin (ISO)

urethane (EXP)

valdecoxib (ISO)

valproic acid (EXP)

vinclozolin (ISO)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cellular response to amino acid stimulus (IDA)

cellular response to chemical stress (TAS)

cellular response to UV (EXP,ISS)

DNA damage response (EXP,ISS)

DNA repair (IEA)

MAPK cascade (TAS)

negative regulation of canonical Wnt signaling pathway (TAS)

negative regulation of response to oxidative stress (IDA)

negative regulation of type I interferon production (IDA)

positive regulation of canonical NF-kappaB signal transduction (IDA)

positive regulation of proteasomal ubiquitin-dependent protein catabolic process (IPI)

positive regulation of protein autoubiquitination (IMP)

positive regulation of protein catabolic process (IDA)

positive regulation of TORC1 signaling (IDA)

post-translational protein modification (TAS)

proteasome-mediated ubiquitin-dependent protein catabolic process (IC,IDA)

protein catabolic process (IEA,ISO)

protein K48-linked ubiquitination (IC,IDA,IEA,ISO)

protein monoubiquitination (IDA,IEA,ISO)

protein neddylation (IDA)

protein polyubiquitination (IDA)

protein ubiquitination (IBA,IDA,IEA,IPI)

regulation of cellular response to insulin stimulus (IC)

SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (IDA,IEA,ISS)

spermatogenesis (IDA)

T cell activation (IDA)

ubiquitin-dependent protein catabolic process (IBA,IDA)

ubiquitin-dependent protein catabolic process via the C-end degron rule pathway (IDA)

Cellular Component

Cul2-RING ubiquitin ligase complex (IDA)

Cul3-RING ubiquitin ligase complex (IDA)

Cul4A-RING E3 ubiquitin ligase complex (EXP,IDA)

Cul4B-RING E3 ubiquitin ligase complex (IDA)

Cul5-RING ubiquitin ligase complex (IDA)

Cul7-RING ubiquitin ligase complex (IDA)

cullin-RING ubiquitin ligase complex (IBA,IDA,IEA)

cytoplasm (IC,IDA,IEA)

cytosol (IEA,ISS,TAS)

nucleoplasm (IDA,TAS)

nucleus (IBA,IC,IDA,IEA,NAS)

SCF ubiquitin ligase complex (IDA,IEA,ISS)

VCB complex (ISO)

Molecular Function

cullin family protein binding (IBA,IDA,IPI)

metal ion binding (IEA)

molecular adaptor activity (EXP)

NEDD8 ligase activity (IDA,IEA)

NEDD8 transferase activity (TAS)

protein binding (IPI)

protein-containing complex binding (ISO)

RNA polymerase II-specific DNA-binding transcription factor binding (IPI)

transferase activity (IEA)

ubiquitin protein ligase activity (IBA,IDA,TAS)

ubiquitin protein ligase binding (IDA)

ubiquitin-protein transferase activity (IDA)

ubiquitin-ubiquitin ligase activity (IDA)

zinc ion binding (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

cell cycle pathway, mitotic (IEA)

Endoplasmic Reticulum-associated degradation pathway (IEA)

hypoxia inducible factor pathway (TAS)

neddylation pathway (TAS)

nuclear factor kappa B signaling pathway (TAS)

nuclear factor, erythroid 2 like 2 signaling pathway (TAS)

nucleotide excision repair pathway (IEA)

proteasome degradation pathway involving cullin-dependent ubiquitin ligases (ISS)

renal cell carcinoma pathway (IEA)

transforming growth factor-beta superfamily mediated signaling pathway (IEA)

ubiquitin/proteasome degradation pathway (IEA)

Wnt signaling pathway (IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	The Nrf2 regulatory network provides an interface between redox and intermediary metabolism.	Hayes JD and Dinkova-Kostova AT, Trends Biochem Sci. 2014 Apr;39(4):199-218. doi: 10.1016/j.tibs.2014.02.002. Epub 2014 Mar 16.
2.	Expanding role of ubiquitination in NF-kappaB signaling.	Liu S and Chen ZJ, Cell Res. 2011 Jan;21(1):6-21. Epub 2010 Dec 7.
3.	Multiple roles of Rbx1 in the VBC-Cul2 ubiquitin ligase complex.	Megumi Y, etal., Genes Cells. 2005 Jul;10(7):679-91.
4.	Nedd8 on cullin: building an expressway to protein destruction.	Pan ZQ, etal., Oncogene. 2004 Mar 15;23(11):1985-97.
5.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
6.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
8.	Regulation of oxygen homeostasis by hypoxia-inducible factor 1.	Semenza GL Physiology (Bethesda). 2009 Apr;24:97-106.

Additional References at PubMed

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PMID:33060197	PMID:33137104	PMID:33156908	PMID:33184273	PMID:33288900	PMID:33288957	PMID:33290867	PMID:33355139	PMID:33504946	PMID:33567268	PMID:33692209	PMID:33729478
PMID:33759138	PMID:33961781	PMID:33962660	PMID:33969670	PMID:34026424	PMID:34060591	PMID:34065512	PMID:34108663	PMID:34133717	PMID:34161281	PMID:34163012	PMID:34195792
PMID:34237211	PMID:34240781	PMID:34281459	PMID:34324733	PMID:34342229	PMID:34349018	PMID:34352208	PMID:34373451	PMID:34384442	PMID:34480022	PMID:34515398	PMID:34537235
PMID:34562363	PMID:34591642	PMID:34593639	PMID:34654435	PMID:34732716	PMID:34878901	PMID:35231559	PMID:35256949	PMID:35271311	PMID:35439318	PMID:35468939	PMID:35487060
PMID:35551201	PMID:35563538	PMID:35777041	PMID:35802537	PMID:35813202	PMID:35819319	PMID:35831314	PMID:35921411	PMID:35944360	PMID:35947662	PMID:35982156	PMID:36129980
PMID:36215168	PMID:36394357	PMID:36481790	PMID:36585710	PMID:36604567	PMID:36608670	PMID:36610398	PMID:36646384	PMID:36688959	PMID:36693379	PMID:36715408	PMID:36774506
PMID:36805027	PMID:36813923	PMID:36855778	PMID:36964131	PMID:36990424	PMID:37004285	PMID:37028429	PMID:37223481	PMID:37243816	PMID:37267103	PMID:37536630	PMID:37639640
PMID:37926283	PMID:38238750

Genomics

Comparative Map Data

RBX1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	40,951,378 - 40,973,309 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	40,951,347 - 40,973,309 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	41,347,382 - 41,369,313 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	39,677,331 - 39,698,614 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	22	39,671,884 - 39,693,168	NCBI
Celera	22	25,151,059 - 25,172,347 (+)	NCBI		Celera
Cytogenetic Map	22	q13.2	NCBI
HuRef	22	24,308,951 - 24,330,592 (+)	NCBI		HuRef
CHM1_1	22	41,306,113 - 41,327,855 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	22	41,423,571 - 41,445,506 (+)	NCBI		T2T-CHM13v2.0

Rbx1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	81,350,517 - 81,360,570 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	15	81,350,497 - 81,360,570 (+)	Ensembl		GRCm39 Ensembl
GRCm38	15	81,466,316 - 81,476,369 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	81,466,296 - 81,476,369 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	81,296,746 - 81,306,799 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	15	81,293,628 - 81,303,619 (+)	NCBI		MGSCv36	mm8
Celera	15	83,584,172 - 83,594,608 (+)	NCBI		Celera
Cytogenetic Map	15	E1	NCBI
cM Map	15	38.11	NCBI

Rbx1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	114,870,893 - 114,881,194 (+)	NCBI		GRCr8
mRatBN7.2	7	112,976,863 - 113,001,051 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	112,990,835 - 113,001,051 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	114,753,189 - 114,763,404 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	116,976,687 - 116,986,902 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	116,946,098 - 116,956,313 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	122,700,849 - 122,710,907 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	122,700,854 - 122,709,935 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	122,677,395 - 122,687,076 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	119,794,976 - 119,805,104 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	119,828,667 - 119,836,146 (+)	NCBI
Celera	7	109,310,166 - 109,320,235 (+)	NCBI		Celera
Cytogenetic Map	7	q34	NCBI

Rbx1
(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_004955413	26,579,759 - 26,592,980 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955413	26,579,759 - 26,592,980 (+)	NCBI	ChiLan1.0	ChiLan1.0

RBX1
(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	23	50,781,027 - 50,802,296 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	22	53,480,935 - 53,503,770 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	22	21,845,351 - 21,866,627 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	22	39,941,405 - 39,962,175 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	22	39,941,405 - 39,962,175 (+)	Ensembl	panpan1.1		panPan2

RBX1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	24,265,733 - 24,280,253 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	10	24,266,408 - 24,280,235 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	24,200,859 - 24,214,782 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	25,014,111 - 25,028,037 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	10	25,013,516 - 25,028,019 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	10	24,729,691 - 24,743,612 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	25,050,324 - 25,064,237 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	25,224,699 - 25,238,847 (-)	NCBI		UU_Cfam_GSD_1.0

Rbx1
(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_024404945	7,861,902 - 7,880,482 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936492	873,576 - 890,835 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936492	872,316 - 890,860 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

RBX1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	7,500,490 - 7,515,370 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	7,500,492 - 7,515,388 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

RBX1
(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	19	23,500,361 - 23,521,676 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	19	23,500,356 - 23,522,723 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666045	101,955,371 - 101,977,480 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Rbx1
(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_004624752	7,546,959 - 7,560,668 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624752	7,547,702 - 7,560,605 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in RBX1
4 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 22q13.2(chr22:40860894-41306006)x3	copy number gain	See cases [RCV000050897]	Chr22:40860894..41306006 [GRCh38] Chr22:41256898..41702010 [GRCh37] Chr22:39586844..40031956 [NCBI36] Chr22:22q13.2	uncertain significance
GRCh38/hg38 22q13.2(chr22:40832364-41076954)x1	copy number loss	See cases [RCV000051369]	Chr22:40832364..41076954 [GRCh38] Chr22:41228368..41472958 [GRCh37] Chr22:39558314..39802904 [NCBI36] Chr22:22q13.2	pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	copy number gain	See cases [RCV000051684]	Chr22:37061769..50738932 [GRCh38] Chr22:37457809..51177360 [GRCh37] Chr22:35787755..49524226 [NCBI36] Chr22:22q12.3-13.33	pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3	copy number gain	See cases [RCV000051682]	Chr22:33768441..50739977 [GRCh38] Chr22:34164428..51178405 [GRCh37] Chr22:32494428..49525271 [NCBI36] Chr22:22q12.3-13.33	pathogenic
NM_014248.3(RBX1):c.310C>T (p.Gln104Ter)	single nucleotide variant	Malignant melanoma [RCV000063917]	Chr22:40967880 [GRCh38] Chr22:41363884 [GRCh37] Chr22:39693830 [NCBI36] Chr22:22q13.2	not provided
NM_014248.3(RBX1):c.157+4518G>T	single nucleotide variant	Lung cancer [RCV000102071]	Chr22:40958151 [GRCh38] Chr22:41354155 [GRCh37] Chr22:22q13.2	uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	copy number gain	See cases [RCV000133646]	Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	copy number gain	See cases [RCV000134730]	Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	copy number gain	See cases [RCV000134513]	Chr22:40202014..50735806 [GRCh38] Chr22:40598018..51174234 [GRCh37] Chr22:38927964..49521100 [NCBI36] Chr22:22q13.1-13.33	pathogenic
GRCh38/hg38 22q13.2(chr22:40769910-41360090)x3	copy number gain	See cases [RCV000134514]	Chr22:40769910..41360090 [GRCh38] Chr22:41165914..41756094 [GRCh37] Chr22:39495860..40086040 [NCBI36] Chr22:22q13.2	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	copy number gain	See cases [RCV000240091]	Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	copy number gain	See cases [RCV000240469]	Chr22:35728929..51220961 [GRCh37] Chr22:22q12.3-13.33	pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	copy number gain	See cases [RCV000240459]	Chr22:40425714..51220961 [GRCh37] Chr22:22q13.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	copy number gain	See cases [RCV000446956]	Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.1-13.2(chr22:40233644-41655673)x3	copy number gain	See cases [RCV000448955]	Chr22:40233644..41655673 [GRCh37] Chr22:22q13.1-13.2	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	copy number gain	See cases [RCV000448847]	Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	copy number gain	See cases [RCV000510873]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NC_000022.10:g.(?_41264983)_(41729217_?)dup	duplication	Nephronophthisis-like nephropathy 1 [RCV000556646]	Chr22:40868979..41333213 [GRCh38] Chr22:41264983..41729217 [GRCh37] Chr22:22q13.2	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	copy number gain	See cases [RCV000512333]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3	copy number gain	not provided [RCV000741689]	Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3	copy number gain	not provided [RCV000741691]	Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3	copy number gain	not provided [RCV000741692]	Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	copy number gain	not provided [RCV001007502]	Chr22:40502364..51197838 [GRCh37] Chr22:22q13.1-13.33	pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	copy number gain	not provided [RCV001007181]	Chr22:30654764..51197838 [GRCh37] Chr22:22q12.2-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	copy number gain	not provided [RCV000846344]	Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NC_000022.10:g.(?_41074407)_(41489122_?)del	deletion	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [RCV003107398]	Chr22:41074407..41489122 [GRCh37] Chr22:22q13.2	pathogenic
GRCh37/hg19 22q13.1-13.2(chr22:40665986-41370008)x3	copy number gain	not provided [RCV001007190]	Chr22:40665986..41370008 [GRCh37] Chr22:22q13.1-13.2	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	copy number gain	See cases [RCV001263056]	Chr22:16197005..51224252 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NC_000022.10:g.(?_41277754)_(43089957_?)dup	duplication	Immunodeficiency, common variable, 4 [RCV001979926]	Chr22:41277754..43089957 [GRCh37] Chr22:22q13.2	uncertain significance
NC_000022.10:g.(?_35776672)_(42486826_?)dup	duplication	Adenylosuccinate lyase deficiency [RCV003119093]	Chr22:35776672..42486826 [GRCh37] Chr22:22q12.3-13.2	uncertain significance
GRCh37/hg19 22q13.1-13.2(chr22:40131240-41556564)x1	copy number loss	not provided [RCV002473952]	Chr22:40131240..41556564 [GRCh37] Chr22:22q13.1-13.2	pathogenic
GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3	copy number gain	not provided [RCV002475709]	Chr22:39768795..41946225 [GRCh37] Chr22:22q13.1-13.2	uncertain significance
GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3	copy number gain	Syndromic craniosynostosis [RCV003481509]	Chr22:40545592..42096995 [GRCh37] Chr22:22q13.1-13.2	likely pathogenic
NM_014248.4(RBX1):c.228+1G>T	single nucleotide variant	not specified [RCV003405142]	Chr22:40964118 [GRCh38] Chr22:41360122 [GRCh37] Chr22:22q13.2	uncertain significance
GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	copy number gain	not specified [RCV003986179]	Chr22:39044105..45794212 [GRCh37] Chr22:22q13.1-13.31	pathogenic
GRCh37/hg19 22q13.1-13.2(chr22:39935185-41752098)x1	copy number loss	not specified [RCV003986188]	Chr22:39935185..41752098 [GRCh37] Chr22:22q13.1-13.2	uncertain significance
NC_000022.10:g.(?_39306081)_(41904073_?)dup	duplication	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [RCV004579118]	Chr22:39306081..41904073 [GRCh37] Chr22:22q13.1-13.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	640
Count of miRNA genes:	404
Interacting mature miRNAs:	446
Transcripts:	ENST00000216225, ENST00000467617, ENST00000476110
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407087219	GWAS736195_H	worry measurement QTL GWAS736195 (human)		2e-08	cognitive function measurement		22	40963782	40963783	Human
406987904	GWAS636880_H	neuroticism measurement QTL GWAS636880 (human)		3e-08	neuroticism measurement		22	40963782	40963783	Human
406933222	GWAS582198_H	anxiety QTL GWAS582198 (human)		9e-11	anxiety		22	40963782	40963783	Human
407225295	GWAS874271_H	insomnia QTL GWAS874271 (human)		4e-08	insomnia		22	40963782	40963783	Human

Markers in Region

SHGC-34633

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	41,368,527 - 41,368,665	UniSTS	GRCh37
Build 36	22	39,698,473 - 39,698,611	RGD	NCBI36
Celera	22	25,172,206 - 25,172,344	RGD
Cytogenetic Map	22	q13.2	UniSTS
HuRef	22	24,330,100 - 24,330,238	UniSTS

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_014248	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF085906	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF140598	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF142059	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK090764	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315722	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL080242	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY099360	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC001466	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC017370	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471095	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068256	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR456560	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA353856	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DN602016	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GM863522	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JC212141	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000216225 ⟹ ENSP00000216225

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	40,951,378 - 40,973,309 (+)	Ensembl

Ensembl Acc Id:

ENST00000467617

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	40,966,201 - 40,972,662 (+)	Ensembl

Ensembl Acc Id:

ENST00000476110

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	40,951,347 - 40,964,411 (+)	Ensembl

RefSeq Acc Id:

NM_014248 ⟹ NP_055063

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	40,951,378 - 40,973,309 (+)	NCBI
GRCh37	22	41,347,351 - 41,369,019 (+)	ENTREZGENE
Build 36	22	39,677,331 - 39,698,614 (+)	NCBI Archive
HuRef	22	24,308,951 - 24,330,592 (+)	ENTREZGENE
CHM1_1	22	41,306,113 - 41,327,855 (+)	NCBI
T2T-CHM13v2.0	22	41,423,571 - 41,445,506 (+)	NCBI

Sequence:

show sequence

GACAGACCGTGTGTTTCCAAAATGGCGGCAGCGATGGATGTGGATACCCCGAGCGGCACCAACA
GCGGCGCGGGCAAGAAGCGCTTTGAAGTGAAAAAGTGGAATGCAGTAGCCCTCTGGGCCTGGGA
TATTGTGGTTGATAACTGTGCCATCTGCAGGAACCACATTATGGATCTTTGCATAGAATGTCAA
GCTAACCAGGCGTCCGCTACTTCAGAAGAGTGTACTGTCGCATGGGGAGTCTGTAACCATGCTT
TTCACTTCCACTGCATCTCTCGCTGGCTCAAAACACGACAGGTGTGTCCATTGGACAACAGAGA
GTGGGAATTCCAAAAGTATGGGCACTAGGAAAAGACTTCTTCCATCAAGCTTAATTGTTTTGTT
ATTCATTTAATGACTTTCCCTGCTGTTACCTAATTACAAATTGGATGGAACTGTGTTTTTTTCT
GCTTTGTTTTTTCAGTTTGCTGTTTCTGTAGCCATATTGTATTCTGTGTCAAATAAAGTCCAGT
TGGATTCTGGAACGGATGCTCTCTCTTGTGTATGTGAACAAAGTGAACATAAATGAAGAGTCTC
CCCTTCCAAGGCTGAAAACTCAGCTTTTGAAAGTGAAATGTTTGTTCATCGGGGCCAGAGCAGG
GTTGTCCTCTGAGCGCATCACTTAGTGACGAGGAATCCAACAGCTCAAGGCAGAGTGTGGATCA
CCGGCTCCCGAAAACAGCAGTCAGCCCTTCTTTCTCCTGTGTGACAGCAGTGGGCAGCTGAAAG
AGGGAAGAATGTGGGATTCAGTCATCAAACCCAGTTCTGAGTCCTGGTTCCACAGCTTGGGTAC
TGATGGCAATCTTGGCCAAGTTGTCTCTCTACTCTGAACTTTCCTCCTCTGTACTGTGGGCTTC
TGAGGACTAAGTGGCATCATGTGGGCACAGAGAGAAGCTTTGTAAAATGTAAAACCGCTATACA
AATGTGACCTTTGGTTGTGTATGACAGCAGTCCCCAACCTTTTTGCCACCAGGGATTGGTTTCA
TGGAAGACGATTTTTCCATGGACCGGGGGTGGGGCGGGGGTGTGCTTGGGGATGGTTTTGGAAC
TGTTCCACCTGAGATCATGAGGCAGTAGATGGACCGCGCAACCTAGATCCCTCACATGCACGGT
TCGCCAATAGGGTTGAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_055063	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD29715	(Get FASTA)	NCBI Sequence Viewer
	AAD30146	(Get FASTA)	NCBI Sequence Viewer
	AAH01466	(Get FASTA)	NCBI Sequence Viewer
	AAH17370	(Get FASTA)	NCBI Sequence Viewer
	AAM21718	(Get FASTA)	NCBI Sequence Viewer
	BAG38078	(Get FASTA)	NCBI Sequence Viewer
	CAG30446	(Get FASTA)	NCBI Sequence Viewer
	CAT16469	(Get FASTA)	NCBI Sequence Viewer
	CDM22122	(Get FASTA)	NCBI Sequence Viewer
	EAW60402	(Get FASTA)	NCBI Sequence Viewer
	EAW60403	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000216225
	ENSP00000216225.8
GenBank Protein	P62877	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_055063 ⟸ NM_014248
- UniProtKB:	Q9WUK9 (UniProtKB/Swiss-Prot), Q9D1S2 (UniProtKB/Swiss-Prot), Q8N6Z8 (UniProtKB/Swiss-Prot), B2RDY1 (UniProtKB/Swiss-Prot), Q9Y254 (UniProtKB/Swiss-Prot), P62877 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAAAMDVDTPSGTNSGAGKKRFEVKKWNAVALWAWDIVVDNCAICRNHIMDLCIECQANQASAT SEECTVAWGVCNHAFHFHCISRWLKTRQVCPLDNREWEFQKYGH hide sequence

Ensembl Acc Id:

ENSP00000216225 ⟸ ENST00000216225

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P62877-F1-model_v2	AlphaFold	P62877	1-108	view protein structure

Promoters

RGD ID:

6800282

Promoter ID:

HG_KWN:42951

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:

OTTHUMT00000322149, OTTHUMT00000322151

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	22	39,676,851 - 39,677,727 (+)	MPROMDB

RGD ID:

6852818

Promoter ID:

EP74224

Type:

initiation region

Name:

HS_RBX1

Description:

Ring-box 1.

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Mammalian gene collection (MGC) full-length cDNA cloning

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	22	39,677,328 - 39,677,388	EPD

RGD ID:

13604230

Promoter ID:

EPDNEW_H28299

Type:

initiation region

Name:

RBX1_1

Description:

ring-box 1

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	22	40,951,378 - 40,951,438	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:9928	AgrOrtholog
COSMIC	RBX1	COSMIC
Ensembl Genes	ENSG00000100387	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000216225	ENTREZGENE
	ENST00000216225.9	UniProtKB/Swiss-Prot
Gene3D-CATH	3.30.40.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000100387	GTEx
HGNC ID	HGNC:9928	ENTREZGENE
Human Proteome Map	RBX1	Human Proteome Map
InterPro	RING-box_E3_Ubiquitin_Ligase	UniProtKB/Swiss-Prot
	Znf_RING	UniProtKB/Swiss-Prot
	Znf_RING/FYVE/PHD	UniProtKB/Swiss-Prot
	Znf_RING_H2	UniProtKB/Swiss-Prot
KEGG Report	hsa:9978	UniProtKB/Swiss-Prot
NCBI Gene	9978	ENTREZGENE
OMIM	603814	OMIM
PANTHER	E3 UBIQUITIN-PROTEIN LIGASE RBX1-RELATED	UniProtKB/Swiss-Prot
	RING BOX	UniProtKB/Swiss-Prot
Pfam	zf-rbx1	UniProtKB/Swiss-Prot
PharmGKB	PA34299	PharmGKB
PROSITE	ZF_RING_2	UniProtKB/Swiss-Prot
Superfamily-SCOP	RING/U-box	UniProtKB/Swiss-Prot
UniProt	B2RDY1	ENTREZGENE
	P62877	ENTREZGENE
	Q8N6Z8	ENTREZGENE
	Q9D1S2	ENTREZGENE
	Q9WUK9	ENTREZGENE
	Q9Y254	ENTREZGENE
	RBX1_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	B2RDY1	UniProtKB/Swiss-Prot
	Q8N6Z8	UniProtKB/Swiss-Prot
	Q9D1S2	UniProtKB/Swiss-Prot
	Q9WUK9	UniProtKB/Swiss-Prot
	Q9Y254	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-04-12	RBX1	ring-box 1	RBX1	ring-box 1, E3 ubiquitin protein ligase	Symbol and/or name change	5135510	APPROVED
2011-07-27	RBX1	ring-box 1, E3 ubiquitin protein ligase	RBX1	ring-box 1	Symbol and/or name change	5135510	APPROVED

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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

RGD Manual Annotations

Imported Annotations - KEGG (archival)

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

RGD Manual Annotations

Imported Annotations - KEGG (archival)