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Aliases for KC6 Gene

Subcategory (RNA class) for KC6 Gene

ncRNA

Quality Score for this RNA gene is

2

Aliases for KC6 Gene

  • Keratoconus Gene 6 3 5

External Ids for KC6 Gene

Previous GeneCards Identifiers for KC6 Gene

  • GC18U900241
  • GC18M037314
  • GC18M039060

Summaries for KC6 Gene

GeneCards Summary for KC6 Gene

KC6 (Keratoconus Gene 6) is an RNA Gene, and is affiliated with the ncRNA class. Diseases associated with KC6 include Keratoconus.

Additional gene information for KC6 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 KC6 Gene

Genomics for KC6 Gene

Regulatory Elements for KC6 Gene

Enhancers for KC6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18H041972 0.7 ENCODE 4.4 -340.6 -340643 1 MAFG BCL11B HIC1 PRDM6 ZNF316 MAFF IKZF1 RUNX3 EMSY MAFK PIK3C3 KC6 GC18M041981
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KC6 on UCSC Golden Path with GeneCards custom track

Genomic Location for KC6 Gene

Chromosome:
18
Start:
41,465,783 bp from pter
End:
41,632,185 bp from pter
Size:
166,403 bases
Orientation:
Minus strand

Genomic View for KC6 Gene

Genes around KC6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KC6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KC6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KC6 Gene

Proteins for KC6 Gene

Post-translational modifications for KC6 Gene

No Post-translational modifications

No data available for DME Specific Peptides for KC6 Gene

Domains & Families for KC6 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 KC6 Gene

Function for KC6 Gene

Phenotypes From GWAS Catalog for KC6 Gene

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KC6 Gene

Localization for KC6 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 KC6 Gene

Pathways & Interactions for KC6 Gene

No Data Available

Interacting Proteins for KC6 Gene

Gene Ontology (GO) - Biological Process for KC6 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KC6 Gene

Drugs & Compounds for KC6 Gene

No Compound Related Data Available

Transcripts for KC6 Gene

mRNA/cDNA for KC6 Gene

(2) Additional mRNA sequences :
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KC6 Gene

Keratoconus gene 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KC6 Gene

No ASD Table

Relevant External Links for KC6 Gene

GeneLoc Exon Structure for
KC6

Expression for KC6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KC6 Gene

mRNA differential expression in normal tissues according to GTEx for KC6 Gene

This gene is overexpressed in Cervix - Ectocervix (x5.8) and Vagina (x4.8).

SOURCE GeneReport for Unigene cluster for KC6 Gene:

Hs.116612
genes like me logo Genes that share expression patterns with KC6: 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 KC6 Gene

Orthologs for KC6 Gene

Evolution for KC6 Gene

ENSEMBL:
Gene Tree for KC6 (if available)
TreeFam:
Gene Tree for KC6 (if available)

No data available for Orthologs for KC6 Gene

Paralogs for KC6 Gene

No data available for Paralogs for KC6 Gene

Variants for KC6 Gene

Sequence variations from dbSNP and Humsavar for KC6 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs1000047505 -- 41,514,454(+) ACACA(C/T)ACACA intron-variant
rs1000051690 -- 41,484,197(+) TGTTT(C/T)AGCTA intron-variant
rs1000066962 -- 41,502,602(+) TCAGA(G/T)GTCTT intron-variant, upstream-variant-2KB
rs1000150466 -- 41,496,940(+) ATTAC(A/C)TTAAG intron-variant
rs1000150665 -- 41,498,050(+) GAGAG(A/T)TGGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KC6 Gene

Variant ID Type Subtype PubMed ID
esv1002655 CNV insertion 20482838
esv1042508 CNV insertion 17803354
esv2674906 CNV deletion 23128226
esv3369825 CNV insertion 20981092
esv3642318 CNV gain 21293372
esv3642321 CNV gain 21293372
esv3642325 CNV gain 21293372
esv3642328 CNV loss 21293372
nsv130773 CNV insertion 16902084

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Relevant External Links for KC6 Gene

Disorders for KC6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KC6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
keratoconus
  • conical cornea
- elite association - COSMIC cancer census association via MalaCards
Search KC6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KC6

Genetic Association Database (GAD)
KC6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KC6
genes like me logo Genes that share disorders with KC6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KC6 Gene

Publications for KC6 Gene

  1. Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. (PMID: 24529757) Xie T … Xu R (Neurobiology of aging 2014) 3 60
  2. Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. (PMID: 23934736) Yu B … Boerwinkle E (Genetic epidemiology 2013) 3 60
  3. A genome-wide association meta-analysis identifies new childhood obesity loci. (PMID: 22484627) Bradfield JP … Early Growth Genetics Consortium (Nature genetics 2012) 3 60
  4. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PMID: 17903296) Kiel DP … Karasik D (BMC medical genetics 2007) 45 60
  5. Gene expression profile studies of human keratoconus cornea for NEIBank: a novel cornea-expressed gene and the absence of transcripts for aquaporin 5. (PMID: 15790884) Rabinowitz YS … Wistow G (Investigative ophthalmology & visual science 2005) 3 60

Products for KC6 Gene

Sources for KC6 Gene

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