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Gene: Snrnp48 (small nuclear ribonucleoprotein U11/U12 subunit 48) Ictidomys tridecemlineatus

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Symbol:

Snrnp48

Name:

small nuclear ribonucleoprotein U11/U12 subunit 48

RGD ID:

12476800

Description:

ENCODES a protein that exhibits metal ion binding (inferred); zinc ion binding (inferred); ASSOCIATED WITH arrhythmogenic right ventricular dysplasia 8 (ortholog); Carvajal syndrome (ortholog); FOUND IN cytosol (inferred); nucleoplasm (inferred); U12-type spliceosomal complex (inferred)

Type:

protein-coding

RefSeq Status:

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

SpeTri2.0 - Squirrel SpeTri2.0 Assembly

Position:

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404946	16,739,162 - 16,756,195 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936534	5,007,360 - 5,025,272 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936534	5,007,362 - 5,025,187 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Snrnp48	Squirrel	arrhythmogenic right ventricular dysplasia 8		ISO	RGD:1319128	8554872	ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 8	ClinVar	PMID:28492532
Snrnp48	Squirrel	Carvajal syndrome		ISO	RGD:1319128	8554872	ClinVar Annotator: match by term: Carvajal syndrome	ClinVar	PMID:28492532

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Snrnp48	Squirrel	cytosol	located_in	IEA	UniProtKB:Q6IEG0\|ensembl:ENSP00000339834	150520179		Ensembl	GO_REF:0000107
Snrnp48	Squirrel	cytosol	located_in	IEA	PANTHER:PTN000483836\|PANTHER:PTN001086194	150520179		TreeGrafter	GO_REF:0000118
Snrnp48	Squirrel	nucleoplasm	located_in	IEA	UniProtKB:Q6IEG0\|ensembl:ENSP00000339834	150520179		Ensembl	GO_REF:0000107
Snrnp48	Squirrel	nucleoplasm	located_in	IEA	PANTHER:PTN000483836\|PANTHER:PTN001086194	150520179		TreeGrafter	GO_REF:0000118
Snrnp48	Squirrel	U12-type spliceosomal complex	part_of	IEA	UniProtKB:Q6IEG0\|ensembl:ENSP00000339834	150520179		Ensembl	GO_REF:0000107
Snrnp48	Squirrel	U12-type spliceosomal complex	part_of	IEA	PANTHER:PTN000483836\|PANTHER:PTN001086194	150520179		TreeGrafter	GO_REF:0000118

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Snrnp48	Squirrel	metal ion binding	enables	IEA	UniProtKB-KW:KW-0479	150520179		UniProt	GO_REF:0000043
Snrnp48	Squirrel	protein binding	enables	ISO	UniProtKB:Q7Z699	9068941	PMID:32814053	IntAct	PMID:32814053
Snrnp48	Squirrel	protein binding	enables	ISO	UniProtKB:P57075-2\|UniProtKB:Q96GN5\|UniProtKB:Q9H0I2	9068941	PMID:32296183	IntAct	PMID:32296183
Snrnp48	Squirrel	zinc ion binding	enables	IEA	UniProtKB-KW:KW-0863	150520179		UniProt	GO_REF:0000043

PMID:30032202

Snrnp48
(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_024404946	16,739,162 - 16,756,195 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936534	5,007,360 - 5,025,272 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936534	5,007,362 - 5,025,187 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SNRNP48
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	7,590,198 - 7,611,967 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	7,590,198 - 7,611,967 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	7,590,431 - 7,612,200 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	7,535,431 - 7,557,199 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	7,535,430 - 7,557,090	NCBI
Celera	6	8,820,198 - 8,841,965 (+)	NCBI		Celera
Cytogenetic Map	6	p24.3	NCBI
HuRef	6	7,467,904 - 7,489,633 (+)	NCBI		HuRef
CHM1_1	6	7,592,592 - 7,614,360 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	6	7,459,234 - 7,481,028 (+)	NCBI		T2T-CHM13v2.0

Snrnp48
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	13	38,388,880 - 38,411,639 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	13	38,388,914 - 38,411,641 (+)	Ensembl		GRCm39 Ensembl
GRCm38	13	38,204,914 - 38,227,663 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	13	38,204,938 - 38,227,665 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	13	38,296,808 - 38,319,532 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	13	38,212,405 - 38,235,129 (+)	NCBI		MGSCv36	mm8
Celera	13	39,319,749 - 39,342,492 (+)	NCBI		Celera
Cytogenetic Map	13	A3.3	NCBI
cM Map	13	18.04	NCBI

Snrnp48
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	17	26,801,818 - 26,821,605 (-)	NCBI		GRCr8
mRatBN7.2	17	26,596,266 - 26,616,058 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	17	26,596,275 - 26,616,040 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	17	26,454,374 - 26,474,288 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	17	28,057,965 - 28,077,873 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	17	26,402,639 - 26,422,467 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	17	27,243,732 - 27,279,271 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	17	27,243,781 - 27,279,260 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	17	29,158,965 - 29,194,327 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	17	32,820,173 - 32,840,752 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	17	32,823,012 - 32,843,576 (-)	NCBI
Celera	17	26,230,361 - 26,250,165 (-)	NCBI		Celera
Cytogenetic Map	17	p12	NCBI

Snrnp48
(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_004955465	6,336,209 - 6,353,569 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955465	6,339,362 - 6,353,563 (-)	NCBI	ChiLan1.0	ChiLan1.0

SNRNP48
(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	5	22,229,964 - 22,253,928 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	6	18,226,844 - 18,250,700 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	6	7,430,029 - 7,451,750 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	6	7,712,986 - 7,734,669 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	6	7,712,986 - 7,734,669 (+)	Ensembl	panpan1.1		panPan2

SNRNP48
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	35	7,529,115 - 7,546,483 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	35	7,529,159 - 7,545,620 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	35	7,532,684 - 7,550,530 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	35	7,612,043 - 7,629,839 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	35	7,611,891 - 7,629,477 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	35	7,465,089 - 7,482,892 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	35	7,490,744 - 7,508,567 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	35	8,823,390 - 8,841,241 (+)	NCBI		UU_Cfam_GSD_1.0

SNRNP48
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	4,919,351 - 4,936,036 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	4,919,343 - 4,940,359 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	5,024,693 - 5,040,424 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SNRNP48
(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	17	64,588,401 - 64,607,323 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	17	64,586,891 - 64,607,286 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666044	7,544,993 - 7,565,286 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Snrnp48
(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_004624756	18,017,432 - 18,032,861 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624756	18,018,442 - 18,032,773 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

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


RefSeq Transcripts	XM_005327485	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_040282156	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_040282157	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_040282158	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JAESOR010000005	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSSTOT00000014635 ⟹ ENSSTOP00000013112

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
SpeTri2.0 Ensembl	NW_004936534	5,008,298 - 5,025,139 (-)	Ensembl

Ensembl Acc Id:

ENSSTOT00000039750 ⟹ ENSSTOP00000027614

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
SpeTri2.0 Ensembl	NW_004936534	5,007,360 - 5,025,272 (-)	Ensembl

RefSeq Acc Id:

XM_005327485 ⟹ XP_005327542

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024404946	16,739,162 - 16,756,195 (-)	NCBI
SpeTri2.0	NW_004936534	5,007,362 - 5,025,187 (-)	NCBI

Sequence:

show sequence

CGCGCGGCGGACTATTCGGTCACTTCCTCCTTGCGGGTGGGCCACGCCATGGAGGACGAACCTCCTCCCCTGGAGGAGAGACGGAGGCTGCAGGAGGAGCTGAGCGAGTTTGTGGAGAGCTGCTGCAG
GACGCTGGAGGAGGTGACGGCGTCCCTGGGCTGGAGCCTTGATCAGCTGGACCCCGGGGAAGAGAAGGCGGCCGAGGATGAAGTTGTGATATGTCCTTATGATTCCAATCATCACATGCCAAAATCAT
CTTTAGCAAAGCACATGGAATCTTGTAGATTGAGGAAACTGGGTTATACCAAGGAAGAAGAGGATGAAATGTATAATCCTGATTTTTTCTATGAGAATCTGAAAATTCCTTCAATTACTTTGAATAAG
GACTCACAATTCCAGATAATTAAACAAGCTAGAAATGCAGTTGGAAAAGATGGAGATTGTTACAATCAAAGAATGTATTCTTCATTGCCTGTTGAAGTTCCTCTGAATCATAAACGATTTGTTTGTGA
TCTAACCCAAGCTGATCGTCTTGCCCTTTATGATTTTGTCGTCGAAGAGACAAAGAAAAAGCGCTCTAATTCTCAAATCATTGAAAATGATAGTGATCTCTTTGTAGACTTGGCTGCCAAAGTTAATC
AAGATAATAGTCGAAAAAGTCCAAAATCTTACCTTGAAATCCTGGCAGAAGTGAGAGATTATAAAAGAAGACGCCAGTCCTATAGAGCTAAGAATGTTCACATAACCAAGAAATCATATACTGAGGTG
ATTCGGGATGTGATAAATGTGCACATGGAAGAACTCAGTAACCATTGGCAGGAAGAACAGGAAAAAGCAGAAGATGATGCTGAAAAAAATGAAGAAAGGCGATCAGCTTCAGTAGACTCTCGGCAGTC
TGGTGGAAGCTACTTGGATACTGAGAGTTCACGACATAGAAGGGATCGGAGTAGGAGCCCACATAAAAGAAAAAGAAATAAAGATAAGGATAAAAACTCTGAGTCAAGGAGAAGGAAAGAGAGGGATG
GGGAAAGACATCATAGTCATAAAAGAAGAAAGCAAAAAATATAAATGAAATGTTTGTGCATGTATTAATTATGTATGTCATTATAACCAGTGTGCTGATATTTTAGTTGTCATTGCTTTGCATAGGAG
AATGTGTTTATATGATCTGTTTAATGCTTATTATTTTTCAATAAATACTTATGCTTCAAACATTGAGTTTTCTATTACACCCTACAACTGTGTTTTCCTTATATTTTAATAGATGGGTTGTTTCTTAT
TATTGATTTATTCTTTTTGGTAATTTATGTTATAAAATTCTTTTTTAAAAACCAGTACTTAAAATATATAAATTGTATATTAATACATTCTCATAGTAAAAAATATTAAACCTTACCAATAAGGCTAA
AGGTGCCTTAGAACAACATCTATTTATTTCCCTGTTTCCTCCCTGGAAATAAACTACTCTTTATCACTACATTGGTGAAGTATAGTAGGGAAAAACAATGTAAATATCTGTTGGAAGGGGAATGGCCT
AGCTAAATAAAACTATGGTATGTCATAGAATAGATAAACTACATTGCCGTAAAAGAAATAACCTAGATCTGTATTAATGTGGACAGATCTCAGAAACAATGCTGTATGAAAAGATACATATATATATT
TTTTTTTTCACATATATACACGAACATATATTTACATGTATATATCTACAAAATTTCCTTTGGTTGTAATGTATGTGAATATATTTTTAAAGGTTCAGAAGAATTCATTCCAAACTCATAACAGTGAC
TGAGGAAGGAGATACAGGTGAGAGAGATTAGAGGTAGAAACCAGGATTTGGAGGGTAATCAAAGGAAACCTGAGCTTTATCTATAATATATTTTTTTTCAAAGTAAGAACGTATTCATGTTTCACTTG
TTAGAGTTATGCTATTATTTTGTCTTGTAAATCAGCTGTATTGAGATACTGCGTGCATATATTAAAATGCATTCATTTGATTGA

hide sequence

RefSeq Acc Id:

XM_040282156 ⟹ XP_040138090

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024404946	16,739,162 - 16,755,708 (-)	NCBI

RefSeq Acc Id:

XM_040282157 ⟹ XP_040138091

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024404946	16,739,162 - 16,755,616 (-)	NCBI

RefSeq Acc Id:

XM_040282158 ⟹ XP_040138092

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024404946	16,739,162 - 16,755,598 (-)	NCBI


Protein RefSeqs	XP_005327542	(Get FASTA)	NCBI Sequence Viewer
	XP_040138090	(Get FASTA)	NCBI Sequence Viewer
	XP_040138091	(Get FASTA)	NCBI Sequence Viewer
	XP_040138092	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSSTOP00000013112.3
	ENSSTOP00000027614.1
GenBank Protein	KAG3288716	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	XP_005327542 ⟸ XM_005327485
- Peptide Label:	isoform X1
- UniProtKB:	A0A287D250 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEDEPPPLEERRRLQEELSEFVESCCRTLEEVTASLGWSLDQLDPGEEKAAEDEVVICPYDSNHHMPKSSLAKHMESCRLRKLGYTKEEEDEMYNPDFFYENLKIPSITLNKDSQFQIIKQARNAVGK DGDCYNQRMYSSLPVEVPLNHKRFVCDLTQADRLALYDFVVEETKKKRSNSQIIENDSDLFVDLAAKVNQDNSRKSPKSYLEILAEVRDYKRRRQSYRAKNVHITKKSYTEVIRDVINVHMEELSNHW QEEQEKAEDDAEKNEERRSASVDSRQSGGSYLDTESSRHRRDRSRSPHKRKRNKDKDKNSESRRRKERDGERHHSHKRRKQKI hide sequence

RefSeq Acc Id:	XP_040138090 ⟸ XM_040282156
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_040138091 ⟸ XM_040282157
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_040138092 ⟸ XM_040282158
- Peptide Label:	isoform X3

Ensembl Acc Id:

ENSSTOP00000027614 ⟸ ENSSTOT00000039750

Protein Domains

CHHC U11-48K-type

Database	Acc Id	Source(s)
Ensembl Genes	ENSSTOG00000014635	Ensembl, UniProtKB/TrEMBL
Ensembl Transcript	ENSSTOT00000014635.3	UniProtKB/TrEMBL
	ENSSTOT00000039750.1	UniProtKB/TrEMBL
InterPro	TRM13/UPF0224_CHHC_Znf_dom	UniProtKB/TrEMBL
	UPF0224_FAM112_RNA_Proc	UniProtKB/TrEMBL
	Znf_C2H2_sf	UniProtKB/TrEMBL
NCBI Gene	Snrnp48	ENTREZGENE
PANTHER	PTHR21402:SF10	UniProtKB/TrEMBL
	UNCHARACTERIZED	UniProtKB/TrEMBL
Pfam	zf-U11-48K	UniProtKB/TrEMBL
PROSITE	ZF_CHHC_U11_48K	UniProtKB/TrEMBL
Superfamily-SCOP	SSF57667	UniProtKB/TrEMBL
UniProt	A0A287D250	ENTREZGENE, UniProtKB/TrEMBL
	I3MNA7_ICTTR	UniProtKB/TrEMBL

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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Imported Disease Annotations - ClinVar