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C10orf11 (Chromosome 10 Open Reading Frame 11)

Written2016-04Kunal Ray, Mainak Sengupta, Sampurna Ghosh
Academy of Scientific and Innovative Research (AcSIR), Campus at CSIR - Central Road Research Institute, Mathura Road, New Delhi - 110 025, (KR); University of Calcutta, Department of Genetics, 35, Ballygunge Circular Road, Kolkata - 700 019,; (MS, SG) India.

Abstract C10orf11 encodes a leucine-rich repeat protein having a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCAVII).

Keywords OCAVII, albinism, C10orf11

(Note : for Links provided by Atlas : click)


Alias_symbol (synonym)CDA017
Other aliasOculocutaneous Albinism 7
HGNC (Hugo)
LocusID (NCBI) 83938
Atlas_Id 60852
Location 10q22.3  [Link to chromosome band 10q22]
Location_base_pair Starts at 77191404 and ends at 78317133 bp from pter ( according to hg19-Feb_2009)  [Mapping C10orf11.png]
  Cytogenetic band showing C10orf11 locus ( C10orf11).


Description In Chromosome: 10, the 1,128,715 bases long gene starts from 75,431,453bp from pter and ends 76,560,167 bp from pter; Orientation: Plus strand. It contains 6 exons.
Transcription C10orf11 encodes 16 splice variants of which 4 are protein coding and the remaining are processed transcripts.


Description The gene encodes a 198 amino acids long leucine-rich repeat-containing protein of molecular mass 22568 Da.
Expression The gene is expressed in embryonic melanoblasts and fetal melanocyte and has not been detected in retinal pigment epithelial cells. In addition the expression of the gene in the following tissue types are evident by its existence in the corresponding cDNA libraries: adrenal cortex, brain, cartilage, cerebellum, endocrine, eye, fetus, heart, kidney, liver, lung, muscle, nervous, pancreas, pancreatic islet, placenta, pooled tissue, prostate, skin, stem cell, testis and uterus (
Localisation 10q22.3
Function The precise function of C10ORF11 is not yet known. However, there is some evidence that the protein might have a role in melanocyte differentiation.


Germinal C10orf11 mutations are responsible for Oculocutaneous Albinism type 7 (OCA7). Nine Faroese patients and one Danish patient of Lithuanian origin were found to have mutations in C10orf11 gene representing OCAVII (Gronskov et al., 2014). These patients have a light skin pigmentation that is reported to be lighter than their relatives. Hair color ranges from light blond to dark brown. Eye findings include nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and very sparse peripheral ocular fundus pigmentation.

Implicated in

Entity Breast Cancer
Note To identify genetic polymorphisms associated with clinical outcomes of breast cancer patients with tamoxifen treatment, genome-wide association study was conducted using 462 Japanese patients with hormone receptor-positive, invasive breast cancer receiving adjuvant tamoxifen therapy. The study revealed that rs10509373 in C10orf11 gene to be significantly associated with recurrence-free survival in the replication study (log-rank P= 2.02 ◊ 10-4). Hazard ratio per C allele of rs10509373 was found to be 4.51 [95% confidence interval (CI), 2.727.51; P= 6.29 ◊ 10-9]. In a combined analysis of rs10509373 genotype with previously identified genetic makers, CYP2D6 and ABCC2, the number of risk alleles of these three genes was reported to have cumulative effect on recurrence-free survival among 345 patients receiving tamoxifen monotherapy (log-rank P= 2.28 ◊ 10-12) (Kiyotani et al., 2011).


Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism
Grnskov K, Dooley CM, stergaard E, Kelsh RN, Hansen L, Levesque MP, Vilhelmsen K, Mllgård K, Stemple DL, Rosenberg T
Am J Hum Genet 2013 Mar 7;92(3):415-21
PMID 23395477
A genome-wide association study identifies locus at 10q22 associated with clinical outcomes of adjuvant tamoxifen therapy for breast cancer patients in Japanese
Kiyotani K, Mushiroda T, Tsunoda T, Morizono T, Hosono N, Kubo M, Tanigawara Y, Imamura CK, Flockhart DA, Aki F, Hirata K, Takatsuka Y, Okazaki M, Ohsumi S, Yamakawa T, Sasa M, Nakamura Y, Zembutsu H
Hum Mol Genet 2012 Apr 1;21(7):1665-72
PMID 22180457


This paper should be referenced as such :
Ray K, Sengupta M, Ghosh S
C10orf11 (Chromosome 10 Open Reading Frame 11);
Atlas Genet Cytogenet Oncol Haematol. in press
On line version :

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Oculocutaneous Albinism

External links

HGNC (Hugo)C10orf11   23405
Entrez_Gene (NCBI)C10orf11  83938  chromosome 10 open reading frame 11
GeneCards (Weizmann)C10orf11
Ensembl hg19 (Hinxton)ENSG00000148655 [Gene_View]  chr10:77191404-78317133 [Contig_View]  C10orf11 [Vega]
Ensembl hg38 (Hinxton)ENSG00000148655 [Gene_View]  chr10:77191404-78317133 [Contig_View]  C10orf11 [Vega]
ICGC DataPortalENSG00000148655
TCGA cBioPortalC10orf11
AceView (NCBI)C10orf11
Genatlas (Paris)C10orf11
SOURCE (Princeton)C10orf11
Genetics Home Reference (NIH)C10orf11
Genomic and cartography
GoldenPath hg19 (UCSC)C10orf11  -     chr10:77191404-78317133 +  10q22.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)C10orf11  -     10q22.3   [Description]    (hg38-Dec_2013)
EnsemblC10orf11 - 10q22.3 [CytoView hg19]  C10orf11 - 10q22.3 [CytoView hg38]
Mapping of homologs : NCBIC10orf11 [Mapview hg19]  C10orf11 [Mapview hg38]
OMIM614537   615179   
Gene and transcription
Genbank (Entrez)AF267860 AK125328 BM720401 BX105111 CR933639
RefSeq transcript (Entrez)NM_001305581 NM_032024
RefSeq genomic (Entrez)NC_000010 NC_018921 NT_030059 NW_004929376
Consensus coding sequences : CCDS (NCBI)C10orf11
Cluster EST : UnigeneHs.690504 [ NCBI ]
CGAP (NCI)Hs.690504
Alternative Splicing GalleryENSG00000148655
Gene ExpressionC10orf11 [ NCBI-GEO ]   C10orf11 [ EBI - ARRAY_EXPRESS ]   C10orf11 [ SEEK ]   C10orf11 [ MEM ]
Gene Expression Viewer (FireBrowse)C10orf11 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83938
GTEX Portal (Tissue expression)C10orf11
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H2I8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H2I8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H2I8
Splice isoforms : SwissVarQ9H2I8
Domaine pattern : Prosite (Expaxy)LRR (PS51450)   
Domains : Interpro (EBI)Leu-rich_rpt   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)C10orf11
DMDM Disease mutations83938
Blocks (Seattle)C10orf11
Human Protein AtlasENSG00000148655
Peptide AtlasQ9H2I8
IPIIPI00012461   IPI00639880   
Protein Interaction databases
IntAct (EBI)Q9H2I8
Ontologies - Pathways
Ontology : AmiGOmelanocyte differentiation  
Ontology : EGO-EBImelanocyte differentiation  
NDEx NetworkC10orf11
Atlas of Cancer Signalling NetworkC10orf11
Wikipedia pathwaysC10orf11
Orthology - Evolution
GeneTree (enSembl)ENSG00000148655
Phylogenetic Trees/Animal Genes : TreeFamC10orf11
Homologs : HomoloGeneC10orf11
Homology/Alignments : Family Browser (UCSC)C10orf11
Gene fusions - Rearrangements
Fusion: TCGAC10orf11 NCRNA00245
Fusion: TCGAC10orf11 ADK
Fusion: TCGAC10orf11 CYP2C19
Fusion: TCGAC10orf11 VCL
Fusion: TCGAGLRX3 C10orf11
Fusion: TCGASON C10orf11
Fusion: TCGASMG6 C10orf11
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC10orf11 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C10orf11
Exome Variant ServerC10orf11
ExAC (Exome Aggregation Consortium)C10orf11 (select the gene name)
Genetic variants : HAPMAP83938
Genomic Variants (DGV)C10orf11 [DGVbeta]
DECIPHER (Syndromes)10:77191404-78317133  ENSG00000148655
CONAN: Copy Number AnalysisC10orf11 
ICGC Data PortalC10orf11 
TCGA Data PortalC10orf11 
Broad Tumor PortalC10orf11
OASIS PortalC10orf11 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC10orf11  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC10orf11
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch C10orf11
DgiDB (Drug Gene Interaction Database)C10orf11
DoCM (Curated mutations)C10orf11 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C10orf11 (select a term)
Cancer3DC10orf11(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
OMIM614537    615179   
Genetic Testing Registry C10orf11
NextProtQ9H2I8 [Medical]
Huge Navigator C10orf11 [HugePedia]
snp3D : Map Gene to Disease83938
BioCentury BCIQC10orf11
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD83938
Chemical/Pharm GKB GenePA134899373
Clinical trialC10orf11
canSAR (ICR)C10orf11 (select the gene name)
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Apr 12 11:28:48 CEST 2017

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