Human Gene XPC (ENST00000285021.12_8) from GENCODE V47lift37
  Description: XPC complex subunit, DNA damage recognition and repair factor, transcript variant 7 (from RefSeq NR_148950.2)
Gencode Transcript: ENST00000285021.12_8
Gencode Gene: ENSG00000154767.16_10
Transcript (Including UTRs)
   Position: hg19 chr3:14,186,647-14,220,101 Size: 33,455 Total Exon Count: 16 Strand: -
Coding Region
   Position: hg19 chr3:14,187,441-14,220,068 Size: 32,628 Coding Exon Count: 16 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsOther Names
GeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:14,186,647-14,220,101)mRNA (may differ from genome)Protein (940 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
BioGrid 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


-  MalaCards Disease Associations
  MalaCards Gene Search: XPC
Diseases sorted by gene-association score: xeroderma pigmentosum, group c* (1250), xpc-related xeroderma pigmentosum* (100), xeroderma pigmentosum, variant type* (92), xeroderma pigmentosum, group a (18), xeroderma pigmentosum, group e, ddb-negative subtype (14), xeroderma pigmentosum group e (13), xeroderma pigmentosum, group d (10), cockayne syndrome (10), multiple cranial nerve palsy (8), mutagen sensitivity (6), glossopharyngeal nerve disease (6), skin benign neoplasm (5), urinary bladder cancer (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 31.60 RPKM in Cells - Cultured fibroblasts
Total median expression: 772.83 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 -4.1033-0.124 Picture PostScript Text
3' UTR -252.50794-0.318 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 orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Descriptions from all associated GenBank mRNAs
  AK222844 - Homo sapiens mRNA for xeroderma pigmentosum, complementation group C variant, clone: HEP08569.
BC016620 - Homo sapiens xeroderma pigmentosum, complementation group C, mRNA (cDNA clone MGC:21338 IMAGE:4509957), complete cds.
X65024 - H.sapiens mRNA for xeroderma pigmentosum group C complementing factor (XP-C).
JD302669 - Sequence 283693 from Patent EP1572962.
D21089 - Homo sapiens mRNA for XP-C repair complementing protein (p125), complete cds.
JD373983 - Sequence 355007 from Patent EP1572962.
JD345805 - Sequence 326829 from Patent EP1572962.
JD453794 - Sequence 434818 from Patent EP1572962.
JD536013 - Sequence 517037 from Patent EP1572962.
JD262903 - Sequence 243927 from Patent EP1572962.
JD413846 - Sequence 394870 from Patent EP1572962.
JD260719 - Sequence 241743 from Patent EP1572962.
JD556913 - Sequence 537937 from Patent EP1572962.
AK295711 - Homo sapiens cDNA FLJ54356 complete cds, highly similar to DNA-repair protein complementing XP-C cells.
JD326109 - Sequence 307133 from Patent EP1572962.
JD197299 - Sequence 178323 from Patent EP1572962.
JD327658 - Sequence 308682 from Patent EP1572962.
JD116780 - Sequence 97804 from Patent EP1572962.
JD310435 - Sequence 291459 from Patent EP1572962.
AK311039 - Homo sapiens cDNA, FLJ18081.
JD486041 - Sequence 467065 from Patent EP1572962.
AK289761 - Homo sapiens cDNA FLJ76216 complete cds, highly similar to Homo sapiens xeroderma pigmentosum, complementation group C (XPC), mRNA.
JD044656 - Sequence 25680 from Patent EP1572962.
JD440597 - Sequence 421621 from Patent EP1572962.
JD157588 - Sequence 138612 from Patent EP1572962.
JD200771 - Sequence 181795 from Patent EP1572962.
JD323318 - Sequence 304342 from Patent EP1572962.
HM113488 - Homo sapiens xeroderma pigmentosum complementation group C (XPC) mRNA, complete cds.
KJ897746 - Synthetic construct Homo sapiens clone ccsbBroadEn_07140 XPC gene, encodes complete protein.
KJ534962 - Homo sapiens clone XPC_iso-A_fetal-F05 xeroderma pigmentosum, complementation group C isoform A (XPC) mRNA, partial cds, alternatively spliced.
KJ535085 - Homo sapiens clone XPC_iso-B_fetal-F09 xeroderma pigmentosum, complementation group C isoform B (XPC) mRNA, complete cds, alternatively spliced.
EU530524 - Homo sapiens cDNA3 XP02SP mutant xeroderma pigmentosum group C (XPC) mRNA, partial cds.
EU530526 - Homo sapiens cDNA5 XP02SP mutant xeroderma pigmentosum group C (XPC) mRNA, partial cds.
EU530529 - Homo sapiens XP03SP mutant xeroderma pigmentosum group C (XPC) mRNA, partial cds.
EU530534 - Homo sapiens cDNA4 XP04SP mutant xeroderma pigmentosum group C (XPC) mRNA, partial cds.
EU530532 - Homo sapiens cDNA2 XP04SP mutant xeroderma pigmentosum group C (XPC) mRNA, partial cds.
EU530522 - Homo sapiens cDNA1 XP02SP mutant xeroderma pigmentosum group C (XPC) mRNA, partial cds.
EU530525 - Homo sapiens cDNA4 XP02SP mutant xeroderma pigmentosum group C (XPC) mRNA, partial cds.
EU530527 - Homo sapiens cDNA6 XP02SP mutant xeroderma pigmentosum group C (XPC) mRNA, partial cds.
EU530523 - Homo sapiens cDNA2 XP02SP mutant xeroderma pigmentosum group C (XPC) mRNA, partial cds.
EU530533 - Homo sapiens cDNA3 XP04SP mutant xeroderma pigmentosum group C (XPC) mRNA, partial cds.
EU530531 - Homo sapiens cDNA1 XP04SP mutant xeroderma pigmentosum group C (XPC) mRNA, partial cds.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000285021.1, ENST00000285021.10, ENST00000285021.11, ENST00000285021.2, ENST00000285021.3, ENST00000285021.4, ENST00000285021.5, ENST00000285021.6, ENST00000285021.7, ENST00000285021.8, ENST00000285021.9, NR_148950, uc317kgq.1, uc317kgq.2, X5DRB1, X5DRB1_HUMAN, XPC
UCSC ID: ENST00000285021.12_8
RefSeq Accession: NM_004628.5

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene XPC:
xp (Xeroderma Pigmentosum)

-  Gene Model Information
  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.