Human Gene RAPGEF6 (uc003kvm.2)
  Description: Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr5:130,759,614-130,783,094 Size: 23,481 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr5:130,762,959-130,782,365 Size: 19,407 Coding Exon Count: 7 

Page IndexSequence and LinksPrimersGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsOther Names
Model InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:130,759,614-130,783,094)mRNA (may differ from genome)Protein (524 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMGIOMIMPubMed
WikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): RAPGEF6
CDC HuGE Published Literature: RAPGEF6
Positive Disease Associations: Cholesterol , Cholesterol, LDL
Related Studies:
  1. Cholesterol
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  2. Cholesterol, LDL
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.84 RPKM in Testis
Total median expression: 26.91 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -187.69729-0.257 Picture PostScript Text
3' UTR -863.333345-0.258 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AF117947 - Homo sapiens PDZ domain-containing guanine nucleotide exchange factor I mRNA, complete cds.
LF384728 - JP 2014500723-A/192231: Polycomb-Associated Non-Coding RNAs.
AF478567 - Homo sapiens PDZ domain-containing guanine nucleotide exchange factor PDZ-GEF2 mRNA, complete cds.
AF394782 - Homo sapiens rap guanine nucleotide exchange factor mRNA, complete cds.
BC140820 - Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6, mRNA (cDNA clone MGC:176497 IMAGE:9021688), complete cds.
BC144627 - Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6, mRNA (cDNA clone MGC:178175 IMAGE:9053158), complete cds.
BC133703 - Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6, mRNA (cDNA clone MGC:157029 IMAGE:40124898), complete cds.
KJ898948 - Synthetic construct Homo sapiens clone ccsbBroadEn_08342 RAPGEF6 gene, encodes complete protein.
AF478468 - Homo sapiens Rap1 guanine nucleotide-exchange factor PDZ-GEF2A mRNA, complete cds.
AB527407 - Synthetic construct DNA, clone: pF1KB3463, Homo sapiens RAPGEF6 gene for Rap guanine nucleotide exchange factor (GEF) 6, without stop codon, in Flexi system.
AK074318 - Homo sapiens cDNA FLJ23738 fis, clone HEP15081, highly similar to PDZ domain-containing guanine nucleotide exchange factor I.
AF478469 - Homo sapiens Rap1 guanine nucleotide-exchange factor PDZ-GEF2B mRNA, complete cds.
AK302640 - Homo sapiens cDNA FLJ53249 complete cds, highly similar to Rap guanine nucleotide exchange factor 6.
MA620305 - JP 2018138019-A/192231: Polycomb-Associated Non-Coding RNAs.
AF085846 - Homo sapiens full length insert cDNA clone YI46F09.
AL832899 - Homo sapiens mRNA; cDNA DKFZp667N084 (from clone DKFZp667N084).
LF325860 - JP 2014500723-A/133363: Polycomb-Associated Non-Coding RNAs.
BX649095 - Homo sapiens mRNA; cDNA DKFZp686I15116 (from clone DKFZp686I15116).
JD327822 - Sequence 308846 from Patent EP1572962.
JD430854 - Sequence 411878 from Patent EP1572962.
JD566308 - Sequence 547332 from Patent EP1572962.
JD359643 - Sequence 340667 from Patent EP1572962.
JD110231 - Sequence 91255 from Patent EP1572962.
JD052033 - Sequence 33057 from Patent EP1572962.
JD438666 - Sequence 419690 from Patent EP1572962.
JD564809 - Sequence 545833 from Patent EP1572962.
JD481708 - Sequence 462732 from Patent EP1572962.
LF325859 - JP 2014500723-A/133362: Polycomb-Associated Non-Coding RNAs.
JD296148 - Sequence 277172 from Patent EP1572962.
JD251041 - Sequence 232065 from Patent EP1572962.
JD146694 - Sequence 127718 from Patent EP1572962.
JD525153 - Sequence 506177 from Patent EP1572962.
JD355338 - Sequence 336362 from Patent EP1572962.
JD248289 - Sequence 229313 from Patent EP1572962.
JD078475 - Sequence 59499 from Patent EP1572962.
JD336695 - Sequence 317719 from Patent EP1572962.
JD266715 - Sequence 247739 from Patent EP1572962.
JD066415 - Sequence 47439 from Patent EP1572962.
JD051858 - Sequence 32882 from Patent EP1572962.
JD053434 - Sequence 34458 from Patent EP1572962.
JD442018 - Sequence 423042 from Patent EP1572962.
JD073801 - Sequence 54825 from Patent EP1572962.
JD454190 - Sequence 435214 from Patent EP1572962.
JD288730 - Sequence 269754 from Patent EP1572962.
JD163204 - Sequence 144228 from Patent EP1572962.
JD257849 - Sequence 238873 from Patent EP1572962.
JD233544 - Sequence 214568 from Patent EP1572962.
JD438447 - Sequence 419471 from Patent EP1572962.
JD062400 - Sequence 43424 from Patent EP1572962.
JD371735 - Sequence 352759 from Patent EP1572962.
JD176835 - Sequence 157859 from Patent EP1572962.
JD437997 - Sequence 419021 from Patent EP1572962.
JD265263 - Sequence 246287 from Patent EP1572962.
JD095826 - Sequence 76850 from Patent EP1572962.
JD497588 - Sequence 478612 from Patent EP1572962.
JD358683 - Sequence 339707 from Patent EP1572962.
JD466058 - Sequence 447082 from Patent EP1572962.
JD492594 - Sequence 473618 from Patent EP1572962.
JD525241 - Sequence 506265 from Patent EP1572962.
JD260128 - Sequence 241152 from Patent EP1572962.
MA561437 - JP 2018138019-A/133363: Polycomb-Associated Non-Coding RNAs.
MA561436 - JP 2018138019-A/133362: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: BX649095, NM_016340, NP_057424
UCSC ID: uc003kvm.2
RefSeq Accession: NM_016340

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BX649095.1
exon count: 7CDS single in 3' UTR: no RNA size: 3691
ORF size: 1575CDS single in intron: no Alignment % ID: 99.81
txCdsPredict score: 2704.00frame shift in genome: no % Coverage: 99.32
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 698# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.