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Aliases for LOC730183 Gene

Aliases for LOC730183 Gene

  • Uncharacterized LOC730183 3 5
  • Uncharacterized Protein LOC730183 3
  • AC093249.6 5

External Ids for LOC730183 Gene

Previous GeneCards Identifiers for LOC730183 Gene

  • GC16M030616
  • GC16U900893

Summaries for LOC730183 Gene

GeneCards Summary for LOC730183 Gene

LOC730183 (Uncharacterized LOC730183) is a Protein Coding gene. Diseases associated with LOC730183 include Floating-Harbor Syndrome.

Additional gene information for LOC730183 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LOC730183 Gene

Genomics for LOC730183 Gene

GeneHancer (GH) Regulatory Elements for LOC730183 Gene

Promoters and enhancers for LOC730183 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
GH16J030697 Promoter/Enhancer 1.6 Ensembl ENCODE 600.7 +0.1 145 4.2 HDGF MTA3 ZNF652 CC2D1A ELF3 ZFX MNT SIX5 ZNF148 NKRF SRCAP LOC730183 ZNF785 ENSG00000260267 SETD1A ENSG00000260304 FUS SMG1P5 TAOK2 BCL7C
GH16J030566 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 30.8 +129.1 129124 6.1 HDGF CC2D1A SP1 ZFX ELF3 MNT SIX5 ZNF148 NKRF ZNF121 ZNF688 SETD1A SRCAP ENSG00000260267 NPIPB13 ZNF747 INO80E ZNF764 C16orf58 SMG1P5
GH16J030956 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 30.7 -258.8 -258833 3.4 CC2D1A SP1 ZFX ELF3 MNT ZNF148 NKRF ZNF121 ZSCAN21 CDC5L SETD1A ENSG00000275263 SRCAP ENSG00000260267 INO80E ZNF764 ENSG00000260304 SMG1P5 ZNF747 KAT8
GH16J031178 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 27.5 -481.7 -481727 4.8 HDGF MTA3 ZNF652 ZFX CC2D1A SP1 ELF3 MNT SIX5 ZNF148 FUS SETD1A SRCAP ZNF764 RNF40 ENSG00000260267 FBRS SMG1P5 C16orf58 ENSG00000260304
GH16J031071 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 24.2 -374.6 -374582 5 ZNF473 ZNF652 SP1 CC2D1A ZFX ELF3 MNT SIX5 NKRF POLR2A ZNF646 ZNF668 PIR38332 PIR37153 SETD1A KAT8 SRCAP ZNF720 ZNF785 FBRS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LOC730183 on UCSC Golden Path with GeneCards custom track

Genomic Locations for LOC730183 Gene

Genomic Locations for LOC730183 Gene
chr16:30,697,704-30,699,058
(GRCh38/hg38)
Size:
1,355 bases
Orientation:
Minus strand
chr16:30,709,028-30,710,379
(GRCh37/hg19)
Size:
1,352 bases
Orientation:
Minus strand

Genomic View for LOC730183 Gene

Genes around LOC730183 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LOC730183 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOC730183 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOC730183 Gene

Proteins for LOC730183 Gene

Post-translational modifications for LOC730183 Gene

No Post-translational modifications

Other Protein References for LOC730183 Gene

REFSEQ proteins:

No data available for DME Specific Peptides for LOC730183 Gene

Domains & Families for LOC730183 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for LOC730183 Gene

Function for LOC730183 Gene

Phenotypes From GWAS Catalog for LOC730183 Gene

Phenotypes for LOC730183 Gene

genes like me logo Genes that share phenotypes with LOC730183: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOC730183 Gene

Localization for LOC730183 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 LOC730183 Gene

Pathways & Interactions for LOC730183 Gene

PathCards logo

SuperPathways for LOC730183 Gene

No Data Available

Interacting Proteins for LOC730183 Gene

Gene Ontology (GO) - Biological Process for LOC730183 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC730183 Gene

Drugs & Compounds for LOC730183 Gene

No Compound Related Data Available

Transcripts for LOC730183 Gene

mRNA/cDNA for LOC730183 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
(2) RNA Central transcripts :

Unigene Clusters for LOC730183 Gene

Uncharacterized LOC730183:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LOC730183

Alternative Splicing Database (ASD) splice patterns (SP) for LOC730183 Gene

No ASD Table

Relevant External Links for LOC730183 Gene

GeneLoc Exon Structure for
LOC730183

Expression for LOC730183 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LOC730183 Gene

mRNA differential expression in normal tissues according to GTEx for LOC730183 Gene

This gene is overexpressed in Testis (x10.0).

SOURCE GeneReport for Unigene cluster for LOC730183 Gene:

Hs.535456
genes like me logo Genes that share expression patterns with LOC730183: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 LOC730183 Gene

Orthologs for LOC730183 Gene

Evolution for LOC730183 Gene

ENSEMBL:
Gene Tree for LOC730183 (if available)
TreeFam:
Gene Tree for LOC730183 (if available)

No data available for Orthologs for LOC730183 Gene

Paralogs for LOC730183 Gene

No data available for Paralogs for LOC730183 Gene

Variants for LOC730183 Gene

Sequence variations from dbSNP and Humsavar for LOC730183 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs200417893 likely-benign, Floating-Harbor syndrome 30,700,787(-) T/C upstream_transcript_variant
rs369654583 likely-benign, Floating-Harbor syndrome 30,700,697(-) C/A/T upstream_transcript_variant
rs374941133 uncertain-significance, Floating-Harbor syndrome 30,700,683(-) C/A/T upstream_transcript_variant
rs535033024 likely-benign, Floating-Harbor syndrome 30,699,147(-) G/A/C upstream_transcript_variant
rs772300957 uncertain-significance, Floating-Harbor syndrome 30,700,842(-) C/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for LOC730183 Gene

Variant ID Type Subtype PubMed ID
nsv1785 CNV insertion 18451855
nsv469724 CNV loss 16826518
nsv833188 CNV loss 17160897

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Additional Variant Information for LOC730183 Gene

Disorders for LOC730183 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LOC730183 Gene - From: GeneCards

Disorder Aliases PubMed IDs
floating-harbor syndrome
  • flhs
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC730183: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC730183 Gene

Publications for LOC730183 Gene

  1. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58

No data available for External Links for LOC730183 Gene

Products for LOC730183 Gene

Sources for LOC730183 Gene

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