HPRT1 (hypoxanthine phosphoribosyltransferase 1)

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Gene: HPRT1 (hypoxanthine phosphoribosyltransferase 1) Pan paniscus

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Symbol:

HPRT1

Name:

hypoxanthine phosphoribosyltransferase 1

RGD ID:

11949750

Description:

ENCODES a protein that exhibits hypoxanthine phosphoribosyltransferase activity (ortholog); INVOLVED IN adenine metabolic process (ortholog); cellular response to insulin stimulus (ortholog); central nervous system neuron development (ortholog); PARTICIPATES IN adenine phoshoribosyltransferase deficiency pathway; adenosine monophosphate deaminase deficiency pathway; adenylosuccinate lyase deficiency pathway; ASSOCIATED WITH autistic disorder (ortholog); autosomal hemophilia A (ortholog); Chemical and Drug Induced Liver Injury (ortholog); FOUND IN cytosol (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

hypoxanthine-guanine phosphoribosyltransferase

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

Mhudiblu_PPA_v0 - Bonobo Mhudiblu_PPA_v0 Assembly

Position:

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	X	133,895,335 - 133,936,164 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	133,898,929 - 133,939,766 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	123,609,248 - 123,650,102 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	133,908,233 - 133,948,197 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	133,916,681 - 133,948,197 (+)	Ensembl	panpan1.1		panPan2

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autistic disorder (ISO)

autosomal hemophilia A (ISO)

Chemical and Drug Induced Liver Injury (ISO)

Experimental Diabetes Mellitus (ISO)

factor VIII deficiency (ISO)

familial hypocalciuric hypercalcemia (ISO)

genetic disease (ISO)

hepatocellular carcinoma (ISO)

HRPT-related hyperuricemia (ISO)

hyperuricemia (ISO)

Lesch-Nyhan syndrome (ISO)

Lesch-Nyhan Syndrome, Neurologic Variant (ISO)

microcephaly (ISO)

nephroblastoma (ISO)

syndromic X-linked intellectual disability Lubs type (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

adenine metabolic process (IEA,ISO)

AMP salvage (IEA)

cellular response to insulin stimulus (ISO)

central nervous system neuron development (IEA,ISO)

cerebral cortex neuron differentiation (IEA,ISO)

dendrite morphogenesis (IEA,ISO)

dopamine metabolic process (IEA,ISO)

dopaminergic neuron differentiation (IEA,ISO)

GMP catabolic process (IEA)

GMP salvage (IEA,ISO)

grooming behavior (IEA,ISO)

guanine salvage (IEA)

hypoxanthine metabolic process (IEA,ISO)

hypoxanthine salvage (IEA)

IMP metabolic process (IEA)

IMP salvage (IEA)

locomotory behavior (IEA,ISO)

lymphocyte proliferation (IEA,ISO)

positive regulation of dopamine metabolic process (IEA)

protein homotetramerization (IEA)

purine nucleotide biosynthetic process (IEA)

purine ribonucleoside salvage (IEA,ISO)

response to amphetamine (IEA,ISO)

spermatogenesis (ISO)

striatum development (IEA,ISO)

T cell mediated cytotoxicity (IEA,ISO)

Cellular Component

cytoplasm (IEA)

cytosol (IEA,ISO)

Molecular Function

glycosyltransferase activity (IEA)

guanine phosphoribosyltransferase activity (IEA)

hypoxanthine phosphoribosyltransferase activity (IEA,ISO)

identical protein binding (IEA)

magnesium ion binding (IEA)

metal ion binding (IEA)

nucleotide binding (IEA)

protein binding (ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

adenine phoshoribosyltransferase deficiency pathway (ISO)

adenosine monophosphate deaminase deficiency pathway (ISO)

adenylosuccinate lyase deficiency pathway (ISO)

AICA-ribosuria pathway (ISO)

azathioprine pharmacodynamics pathway (ISO)

Kelley-Seegmiller syndrome pathway (ISO)

Lesch-Nyhan syndrome pathway (ISO)

mercaptopurine pharmacodynamics pathway (ISO)

mercaptopurine pharmacokinetics pathway (ISO)

molybdenum cofactor deficiency pathway (ISO)

purine metabolic pathway (ISO)

purine nucleoside phosphorylase deficiency pathway (ISO)

purine salvage pathway (ISO)

tioguanine pharmacodynamics pathway (ISO)

tioguanine pharmacokinetics pathway (ISO)

xanthinuria type I pathway (ISO)

xanthinuria pathway (ISO)

xanthinuria type II pathway (ISO)

References

Additional References at PubMed

PMID:22301074	PMID:30032202

Genomics

Comparative Map Data

HPRT1
(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	X	133,895,335 - 133,936,164 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	133,898,929 - 133,939,766 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	123,609,248 - 123,650,102 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	133,908,233 - 133,948,197 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	133,916,681 - 133,948,197 (+)	Ensembl	panpan1.1		panPan2

HPRT1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	134,460,165 - 134,500,668 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	134,460,165 - 134,520,513 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	133,594,195 - 133,634,698 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	133,421,923 - 133,462,362 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	133,319,776 - 133,360,216	NCBI
Celera	X	133,981,004 - 134,021,522 (+)	NCBI		Celera
Cytogenetic Map	X	q26.2-q26.3	NCBI
HuRef	X	122,992,617 - 123,032,595 (+)	NCBI		HuRef
CHM1_1	X	133,505,941 - 133,546,459 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	132,785,328 - 132,825,827 (+)	NCBI		T2T-CHM13v2.0

Hprt1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	52,076,955 - 52,110,537 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	52,077,014 - 52,110,536 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	52,988,078 - 53,021,660 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	52,988,137 - 53,021,659 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	50,341,255 - 50,374,837 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	49,232,764 - 49,266,286 (+)	NCBI		MGSCv36	mm8
Celera	X	40,414,095 - 40,447,630 (+)	NCBI		Celera
Cytogenetic Map	X	A5	NCBI
cM Map	X	29.31	NCBI

Hprt1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	137,655,744 - 137,687,718 (+)	NCBI		GRCr8
mRatBN7.2	X	132,736,175 - 132,768,149 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	132,736,096 - 132,768,154 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	134,896,246 - 134,928,216 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	138,479,092 - 138,511,062 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	136,044,802 - 136,076,774 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	158,196,640 - 158,228,815 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	158,623,240 - 158,655,198 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0 Ensembl	X	158,197,149 - 158,228,749 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	152,821,947 - 152,854,198 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Rnor_5.0	X	153,249,874 - 153,281,841 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	139,929,647 - 139,961,616 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	X	140,003,079 - 140,035,048 (+)	NCBI
Cytogenetic Map	X	q36	NCBI

Hprt1
(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	NW_004955473	462,940 - 510,006 (-)	NCBI	ChiLan1.0	ChiLan1.0

HPRT1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	X	105,115,732 - 105,153,702 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	105,115,732 - 105,153,702 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	91,226,153 - 91,264,410 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	106,975,655 - 107,013,438 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	106,975,628 - 107,013,469 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	104,388,675 - 104,426,954 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	106,254,668 - 106,292,939 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	106,046,035 - 106,084,329 (+)	NCBI		UU_Cfam_GSD_1.0

Hprt1
(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	X	103,263,023 - 103,304,555 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936691	652,769 - 694,463 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936691	650,753 - 694,362 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

HPRT1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	X	110,321,204 - 110,357,894 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	110,321,144 - 110,357,902 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

HPRT1
(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	X	109,629,674 - 109,671,409 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666065	47,224,456 - 47,265,741 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Hprt1
(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 1.0	NW_004624797	14,148,580 - 14,184,471 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_008967179	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_034949652	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JARIFH020000024	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSPPAT00000045547 ⟹ ENSPPAP00000022734

Type:

CODING

Position:

Bonobo Assembly	Chr	Position (strand)	Source
PanPan1.1 Ensembl	X	133,916,681 - 133,947,607 (+)	Ensembl

Ensembl Acc Id:

ENSPPAT00000045557 ⟹ ENSPPAP00000022744

Type:

CODING

Position:

Bonobo Assembly	Chr	Position (strand)	Source
PanPan1.1 Ensembl	X	133,920,773 - 133,947,607 (+)	Ensembl

Ensembl Acc Id:

ENSPPAT00000045562 ⟹ ENSPPAP00000022749

Type:

CODING

Position:

Bonobo Assembly	Chr	Position (strand)	Source
PanPan1.1 Ensembl	X	133,920,999 - 133,947,607 (+)	Ensembl

Ensembl Acc Id:

ENSPPAT00000045570 ⟹ ENSPPAP00000022756

Type:

CODING

Position:

Bonobo Assembly	Chr	Position (strand)	Source
PanPan1.1 Ensembl	X	133,921,542 - 133,948,197 (+)	Ensembl

RefSeq Acc Id:

XM_008967179 ⟹ XP_008965427

Type:

CODING

Position:

Bonobo Assembly	Chr	Position (strand)	Source
NHGRI_mPanPan1-v2	X	133,895,335 - 133,936,164 (+)	NCBI
NHGRI_mPanPan1	X	133,898,929 - 133,939,766 (+)	NCBI
Mhudiblu_PPA_v0	X	123,609,248 - 123,650,102 (+)	NCBI
PanPan1.1	X	133,908,233 - 133,948,197 (+)	NCBI

Sequence:

show sequence

CCAAGAGTCAGGAAAATGGAAGCCACAGGTAGTGCAAGGTCTTGGGAATGGGACGTCTGGTCCA
AGGATTCACGCGATGACTGGAACCCGAAGAGCCGGGGCCCGGTTTACGGCCGCCATGAAGCAAC
GCGGACGCCGATTAGTGATGATGAACCAGGTTATGACCTTGATTTATTTTGCATACCTAATCAT
TATGCTGAGGATTTGGAAAGGGTGTTTATTCCTCATGGACTAATTATGGACAGGACTGAACGTC
TTGCTCGAGATGTGATGAAGGAGATGGGAGGCCATCACATTGTAGCCCTCTGTGTGCTCAAGGG
GGGCTATAAATTCTTTGCTGACCTGCTGGATTACATCAAAGCACTGAATAGAAATAGTGATAGA
TCCATTCCTATGACTGTAGATTTTATCAGACTGAAGAGCTATTGTAATGACCAGTCAACAGGGG
ACATAAAAGTAATTGGTGGAGATGATCTCTCAACTTTAACTGGAAAGAATGTCTTGATTGTGGA
AGATATAATTGACACTGGCAAAACAATGCAGACTTTGCTTTCCTTGGTCAGGCAGTATAATCCA
AAGATGGTCAAGGTCGCAAGCTTGCTGGTAAAAAGGACCCCACGAAGTGTTGGATATAAGCCAG
ACTTTGTTGGATTTGAAATTCCAGACAAGTTTGTTGTAGGATATGCCCTTGACTATAATGAATA
CTTCAGGGATTTGAATCATGTTTGTGTCATTAGTGAAACTGGAAAAGCAAAATACAAAGCCTAA
GATGAGAGTTCAAGTTGAGTTTGGAAACATCTGGAGTCCTATTGACATCGCCAGTAAAATTATC
AATGTTCTAGTTCTGTGGCCATCTGCTTAGTAGAGCTTTTTGCATGTATCTTCTAAGAATTTTA
TCTGTTTTGTACTTTAGAAATGTCAGTTGCTGCATTCCTAAACTGTTTATTTGCACTATGAGCC
TATAGACTATCAGTTCCCTTTGGGCGGATTGTTGTTTAACTTGTAAATGAAAAAATTCTCTTAA
ACCACAGCACTATTGAGTGAAACATTGAACTCATATCTGTAAGAAATAAAGAGAAGATATATTA
GTTTTTAATTGGTATTTTAATTTTTATATATGCAGGAAAGAATAGAAGTGATTGAATATTGTTA
ATTATACCACCGTGTGTTAGAAAAGTAAGAAGCAGTCAATTTTCACATCAAAGACAGCATCTAA
GAAGTTTTGTTCTGTCCTGGAATTATTTTAGTAGTGTTTCAGTAATGTTGACTGTATTTTCCAA
CTTGTTCAAATTATTACCAGTGAATCTTTGTCAGCAGTTCCCTTTTAAATGCAAATCAATAAAT
TCCCAAAAATTTAA

hide sequence

RefSeq Acc Id:

XM_034949652 ⟹ XP_034805543

Type:

CODING

Position:

Bonobo Assembly	Chr	Position (strand)	Source
NHGRI_mPanPan1-v2	X	133,895,670 - 133,936,164 (+)	NCBI
NHGRI_mPanPan1	X	133,899,270 - 133,939,766 (+)	NCBI
Mhudiblu_PPA_v0	X	123,609,589 - 123,650,098 (+)	NCBI

Protein Sequences


Protein RefSeqs	XP_008965427	(Get FASTA)	NCBI Sequence Viewer
	XP_034805543	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSPPAP00000022734.1
	ENSPPAP00000022744.1
	ENSPPAP00000022749.1
	ENSPPAP00000022756
	ENSPPAP00000022756.1

RefSeq Acc Id:	XP_008965427 ⟸ XM_008967179
- Peptide Label:	isoform X1
- UniProtKB:	A0A2R9B5X4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEATGSARSWEWDVWSKDSRDDWNPKSRGPVYGRHEATRTPISDDEPGYDLDLFCIPNHYAEDL ERVFIPHGLIMDRTERLARDVMKEMGGHHIVALCVLKGGYKFFADLLDYIKALNRNSDRSIPMT VDFIRLKSYCNDQSTGDIKVIGGDDLSTLTGKNVLIVEDIIDTGKTMQTLLSLVRQYNPKMVKV ASLLVKRTPRSVGYKPDFVGFEIPDKFVVGYALDYNEYFRDLNHVCVISETGKAKYKA hide sequence

RefSeq Acc Id:	XP_034805543 ⟸ XM_034949652
- Peptide Label:	isoform X2
- UniProtKB:	A0A2R9B5X4 (UniProtKB/TrEMBL)

Ensembl Acc Id:

ENSPPAP00000022756 ⟸ ENSPPAT00000045570

Ensembl Acc Id:

ENSPPAP00000022734 ⟸ ENSPPAT00000045547

Ensembl Acc Id:

ENSPPAP00000022744 ⟸ ENSPPAT00000045557

Ensembl Acc Id:

ENSPPAP00000022749 ⟸ ENSPPAT00000045562

Protein Domains

Phosphoribosyltransferase

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSPPAG00000034522	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSPPAT00000045547.1	UniProtKB/TrEMBL
	ENSPPAT00000045557.1	UniProtKB/TrEMBL
	ENSPPAT00000045562.1	UniProtKB/TrEMBL
	ENSPPAT00000045570.1	UniProtKB/TrEMBL
Gene3D-CATH	3.40.50.2020	UniProtKB/TrEMBL
InterPro	HGPRT	UniProtKB/TrEMBL
	Hxn_phspho_trans	UniProtKB/TrEMBL
	PRibTrfase_dom	UniProtKB/TrEMBL
	PRTase-like	UniProtKB/TrEMBL
NCBI Gene	HPRT1	ENTREZGENE
PANTHER	HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE	UniProtKB/TrEMBL
	HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE	UniProtKB/TrEMBL
Pfam	Pribosyltran	UniProtKB/TrEMBL
Superfamily-SCOP	SSF53271	UniProtKB/TrEMBL
UniProt	A0A2R9AZJ6_PANPA	UniProtKB/TrEMBL
	A0A2R9AZK4_PANPA	UniProtKB/TrEMBL
	A0A2R9AZK8_PANPA	UniProtKB/TrEMBL
	A0A2R9B5X4	ENTREZGENE, UniProtKB/TrEMBL

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

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB