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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

GeneHancer (GH) Regulatory Elements for KC6 Gene

Promoters and enhancers for KC6 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
GH18I041972 Enhancer 0.6 ENCODE 4.4 -340.6 -340643 1.2 MAFG BCL11B HIC1 MAFF PRDM6 ZNF316 IKZF1 EMSY MAFK RUNX3 PIK3C3 KC6 GC18M041981
GH18I041560 Enhancer 0.2 FANTOM5 0.2 +71.5 71510 0.2 GC18P041542 GC18P041617 KC6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KC6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KC6 gene promoter:

Genomic Locations for KC6 Gene

Genomic Locations for KC6 Gene
chr18:41,465,783-41,632,185
(GRCh38/hg38)
Size:
166,403 bases
Orientation:
Minus strand
chr18:39,047,395-39,212,149
(GRCh37/hg19)

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

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 Variation AA Info Type
rs1000047505 -- 41,514,454(-) T/C intron_variant
rs1000051690 -- 41,484,197(-) T/C intron_variant
rs1000066962 -- 41,502,602(-) T/G intron_variant
rs1000150466 -- 41,496,940(-) A/C intron_variant
rs1000150665 -- 41,498,050(-) A/T intron_variant

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

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

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

Additional Disease Information for 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 58
  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 58
  3. A genome-wide association meta-analysis identifies new childhood obesity loci. (PMID: 22484627) Bradfield JP … Early Growth Genetics Consortium (Nature genetics 2012) 3 58
  4. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PMID: 17903296) Kiel DP … Karasik D (BMC medical genetics 2007) 44 58
  5. 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

Products for KC6 Gene

Sources for KC6 Gene

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