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Aliases for ENSG00000273948 Gene
Data sources for ENSG00000273948 Gene:
Subcategory (RNA class) for ENSG00000273948 Gene
misc_RNA
Aliases for ENSG00000273948 Gene
- AC020558.3 (Ensembl)
External Ids for ENSG00000273948 Gene
- Ensembl: ENSG00000273948
Summaries for ENSG00000273948 Gene
GeneCards Summary for ENSG00000273948 Gene
ENSG00000273948 is an RNA Gene, and is affiliated with the misc_RNA class. Diseases associated with ENSG00000273948 include Smith-Magenis Syndrome.
Rfam classification for ENSG00000273948 Gene
-
Smith-Magenis syndrome chromosome region, candidate 2 conserved region 1
Additional gene information for ENSG00000273948 Gene
No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary and piRNA Summary for ENSG00000273948 Gene
Genomics for ENSG00000273948 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ENSG00000273948 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH17J017675 | Enhancer | 1.3 | Ensembl ENCODE CraniofacialAtlas dbSUPER | 250.7 | +1.3 | 1335 | 3 | IKZF1 MCM3 IRF4 TRIM22 SMAD4 RARA ADNP PRDM10 BHLHE40 PTBP1 | ENSG00000273948 ENSG00000274836 SMCR8 RPL13P12 TOM1L2 SMCR2 HSALNG0114970 HSALNG0114971 RAI1 PEMT |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ENSG00000273948 on the GeneHancer Hub at the UCSC Golden Path
Genomic Locations for ENSG00000273948 Gene
Latest Assembly
- chr17:17,675,366-17,675,522
- (GRCh38/hg38)
- Size:
- 157 bases
- Orientation:
- Plus strand
Genomic View for ENSG00000273948 Gene
Genes around ENSG00000273948 on UCSC Golden Path with GeneCards custom track
ENSG00000273948 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path
- Cytogenetic band:
-
- 17p11.2 by Ensembl
ENSG00000273948 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
No data available for RefSeq DNA sequence for ENSG00000273948 Gene
Proteins for ENSG00000273948 Gene
Post-translational modifications for ENSG00000273948 Gene
No Post-translational modifications
No data available for DME Specific Peptides for ENSG00000273948 Gene
Domains & Families for ENSG00000273948 Gene
No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ENSG00000273948 Gene
Function for ENSG00000273948 Gene
CRISPR products for research
Inhibitory RNAs for research
Clone products for research
Cell Lines for research
No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ENSG00000273948 Gene
Localization for ENSG00000273948 Gene
No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for ENSG00000273948 Gene
Transcripts for ENSG00000273948 Gene
Non-coding RNA (ncRNA) Transcripts from RNAcentral for ENSG00000273948 Gene
| RNAcentral Transcript ID | Subcategory | Length (nts) | # of Sources | Source Identifiers and Annotations |
|---|---|---|---|---|
| URS0000664812_9606 | misc_RNA | 157 | 1 |
Ensembl: ENST00000621493 (view in UCSC) , |
ENSG00000273948 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path
CRISPR products for research
Inhibitory RNAs for research
Clone products for research
Relevant External Links for ENSG00000273948 Gene
- GeneLoc Exon Structure for
- ENSG00000273948
No data available for mRNA/cDNA for ENSG00000273948 Gene
Expression for ENSG00000273948 Gene
No Expression Related Data Available
No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ENSG00000273948 Gene
Orthologs for ENSG00000273948 Gene
No data available for Orthologs for ENSG00000273948 Gene
Paralogs for ENSG00000273948 Gene
No data available for Paralogs for ENSG00000273948 Gene
Variants for ENSG00000273948 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , dbSNP identifiers (rs#s) for variants without ClinVar clinical significance , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for ENSG00000273948 Gene
Disorders for ENSG00000273948 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| smith-magenis syndrome |
|
|
Search ENSG00000273948 in MalaCards
View complete list of genes associated with diseases
No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for ENSG00000273948 Gene
Publications for ENSG00000273948 Gene
No publications were found for ENSG00000273948 Gene.
No data available for Mastermind for ENSG00000273948 Gene
Products for ENSG00000273948 Gene
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ENSG00000273948
- Origene Custom Protein Services for ENSG00000273948
- Browse OriGene Inhibitory RNA Products For ENSG00000273948
- Browse OriGene qPCR primer pairs and template standards
- Browse CRISPR knockouts for ENSG00000273948
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ENSG00000273948
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for knockout CRISPR/Cas9 clones, lentivirus, and/or AAV products for ENSG00000273948
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles, and/or promoter clone products for ENSG00000273948
- Search GeneCopoeia for miRNA 3'UTR Target clone products for ENSG00000273948
- Search GeneCopoeia for shRNA, lentivirus, and/or AAV clone products for ENSG00000273948
Sources for ENSG00000273948 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB