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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SNORD48 Gene

RNA gene GIFtS: 16
GCID: GC06P031803

small nucleolar RNA, C/D box 48

(Previous names: RNA, U48 small nuclear )
(Previous symbol: RNU48)

Search for SNORD48
in

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Subcategory (RNA class): snoRNA

Quality score for this RNA gene is 5

Aliases
Small Nucleolar RNA, C/D Box 48¹ ²
RNU48¹ ²
U48¹ ²
RNA, U48 Small Nuclear¹

External Ids:	HGNC: 10188¹	Entrez Gene: 26801²	Ensembl: ENSG00000201823⁷

ORGUL members:	fRNAdb¹⁰:FR138534 FR385465
	H-InvDB:HIT000383096_01 HIT000383096_02
	NCBI:X96648 AL929592 BA000025 CR759915 CR388202	see all 7
	NONCODE:u5070
	Rfam:RF00282

Export aliases for SNORD48 gene to outside databases

Previous GC identifers: GC06P031913 GC06P031915 GC06P031589

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

fRNAdb sequence ontology for SNORD48:
C_D_box_snoRNA - Most box C/D snoRNAs also contain long (>10 nt) sequences complementary to rRNA. Boxes C and D, as well as boxes C' and D', are usually located in close proximity, and form a structure known as the box C/D motif. This motif is important for snoRNA stability, processing, nucleolar targeting and function. A small number of box C/D snoRNAs are involved in rRNA processing; most, however, are known or predicted to serve as guide RNAs in ribose methylation of rRNA. Targeting involves direct base pairing of the snoRNA at the rRNA site to be modified and selection of a rRNA nucleotide a fixed distance from box D or D'.

View fRNAdb secondary structures for SNORD48

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SNORD48 gene promoter:
Max1 PPAR-alpha CP2 STAT3 NF-kappaB NF-kappaB1 ATF
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for SNORD48

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SNORD48

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.33 Ensembl cytogenetic band: 6p21.33 HGNC cytogenetic band: 6p21.33

SNORD48 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNORD48 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06P031803: view genomic region (about GC identifiers)

Start:	31,803,040 bp from pter	End:	31,803,103 bp from pter
Size:	64 bases	Orientation:	plus strand

4 alternative locations:

Chr6+,ALT_REF_LOCI_6 31,793,302-31,828,945	Chr6+,ALT_REF_LOCI_1 31,814,397-31,822,759	Chr6+,ALT_REF_LOCI_2 31,790,412-31,829,662
Chr6+,ALT_REF_LOCI_3 31,785,230-31,796,330

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB: --

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SNORD48

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

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Search CenterWatch for drugs/clinical trials and news about SNORD48

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

1 fRNAdb Secondary structure:

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000364953(snoRNA)

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GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

Expression evidence for SNORD48:H-invDB

SNORD48 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

SABiosciences Custom PCR Arrays for SNORD48

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

--

ENSEMBL Gene Tree for SNORD48 (if available)
TreeFam Gene Tree for SNORD48 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs139441940^1,2		--	31801074(+)	`CCGAGA/GTGGGA`	2	--	us2k¹		0	--	--	--	--
rs147582215^1,2		--	31801219(+)	`CAAGAG/TAATCA`	2	--	us2k¹		0	--	--	--	--
rs2736430^1,2	C,	--	31801233(-)	`CTCCCG/AGGTTC`	2	--	us2k¹		1		NA	2
rs142315165^1,2	C,	--	31801259(+)	`AGCCG-/AGATCA TGCCA`	2	--	us2k¹		0	--	--	--	--
rs181079266^1,2		--	31801304(+)	`ACCCTA/GTCTCA`	2	--	us2k¹		0	--	--	--	--
rs70990282^1,2	C	--	31801309(+)	`AAAAAA/-GAAAA`	3	--	us2k¹		1		NA	2
rs611902^1,2	C,F	--	31801344(-)	`TCTTCC/TTTTTT`	3	--	us2k¹ trp³		3		NA WA	6
rs185676946^1,2		--	31801438(+)	`GACCAG/TCCTGG`	2	--	us2k¹		0	--	--	--	--
rs188824174^1,2		--	31801526(+)	`TACTTC/GGGAGG`	2	--	us2k¹		0	--	--	--	--
rs151183934^1,2		--	31801603(+)	`TCTCCA/GGCCTG`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SNORD48 (31803040 - 31803103 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SNORD48: --

SABiosciences Cancer Mutation PCR Assays

Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SNORD48

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SNORD48 for disorders About MalaCards

SNORD48 for disorders About GeneDecksing

OMIM gene information: 605447

Export disorders for SNORD48 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SNORD48 gene integrated from 9 sources:
(articles sorted by number of sources associating them with SNORD48)

Utopia: connect your pdf to the dynamic
world of online information

Site-specific ribose methylation of preribosomal RNA: a novel function for small nucleolar RNAs. (PubMed id 8674114)^{1, 3} Kiss-Laszlo Z....Kiss T. (1996)
Eukaryotic snoRNAs: a paradigm for gene expression fl exibility. (PubMed id 19446021)¹ Dieci G....Montanini B. (2009)
(PubMed id 12215523)¹⁰
(PubMed id 15103394)¹⁰
(PubMed id 8797828)¹⁰
(PubMed id 10736225)¹⁰
(PubMed id 18089548)¹⁰
(PubMed id 15608158)¹⁰

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 26801	HGNC: 10188	Ensembl:ENSG00000201823	euGenes: HUgn26801	ECgene: SNORD48
H-InvDB: SNORD48

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SNORD48	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SNORD48 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for SNORD48 gene:
Search GeneIP for patents involving SNORD48

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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SNORD48 Gene

small nucleolar RNA, C/D box 48

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SNORD48 Gene

small nucleolar RNA, C/D box 48

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