Gene Gene information from NCBI Gene database.
Entrez ID 23594
Gene name Origin recognition complex subunit 6
Gene symbol ORC6
Synonyms (NCBI Gene)
ORC6L
Chromosome 16
Chromosome location 16q11.2
Summary The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs200089121 T>A,C Likely-pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs387906969 A>C Pathogenic Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs572314014 G>A Pathogenic Intron variant
rs786205258 TT>- Pathogenic Coding sequence variant, non coding transcript variant, stop gained
rs879255692 AGAA>- Pathogenic Downstream transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
398
miRTarBase ID miRNA Experiments Reference
MIRT016286 hsa-miR-193b-3p Microarray 20304954
MIRT049645 hsa-miR-92a-3p CLASH 23622248
MIRT041879 hsa-miR-484 CLASH 23622248
MIRT689529 hsa-miR-6849-3p HITS-CLIP 23313552
MIRT689528 hsa-miR-7162-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0000808 Component Origin recognition complex IDA 17716973
GO:0001650 Component Fibrillar center IDA
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 15232106, 17716973, 18234858, 25416956, 31515488, 32296183
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607213 17151 ENSG00000091651
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y5N6
Protein name Origin recognition complex subunit 6
Protein function Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-re
PDB 3M03 , 6KVG , 8S0B , 8S0D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05460 ORC6 6 96 Origin recognition complex subunit 6 (ORC6) Family
Sequence
MGSELIGRLAPRLGLAEPDMLRKAEEYLRLSRVKCVGLSARTTETSSAVMCLDLAASWMK
CPLDRAYLIKLSGLNKETYQSCLKSFECLLGLNSNI
GIRDLAVQFSCIEAVNMASKILKS
YESSLPQTQQVDLDLSRPLFTSAALLSACKILKLKVDKNKMVATSGVKKAIFDRLCKQLE
KIGQQVDREPGDVATPPRKRKKIVVEAPAKEMEKVEEMPHKPQKDEDLTQDYEEWKRKIL
ENAASAQKATAE
Sequence length 252
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cell cycle   Activation of ATR in response to replication stress
Assembly of the ORC complex at the origin of replication
CDC6 association with the ORC:origin complex
CDT1 association with the CDC6:ORC:origin complex
Assembly of the pre-replicative complex
Orc1 removal from chromatin
Activation of the pre-replicative complex
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Meier-Gorlin syndrome 3 Pathogenic; Likely pathogenic rs2143010039, rs1279789023, rs879255692, rs35441257, rs786205258, rs387906969, rs777153067, rs2548892306 RCV001527366
RCV001527365
RCV000239709
RCV005433474
RCV000023632
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DESBUQUOIS SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EAR, PATELLA, SHORT STATURE SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EAR-PATELLA-SHORT STATURE SYNDROME Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Neoplasms Breast neoplasm Pubtator 35886011, 38104894 Associate
★☆☆☆☆
Found in Text Mining only
Bronchomalacia Bronchomalacia HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 36205357 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37901236, 40255404 Associate
★☆☆☆☆
Found in Text Mining only
Chronic myeloproliferative disorder Myeloproliferative disorder GENOMICS_ENGLAND_DG 21358632
★☆☆☆☆
Found in Text Mining only
Clinodactyly of the 5th finger Camptodactyly of fingers HPO_DG
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 19112505
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic Neoplasms LHGDN 19112505
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 19112505, 37096556 Stimulate
★☆☆☆☆
Found in Text Mining only
Congenital absence of breast Breast aplasia HPO_DG
★☆☆☆☆
Found in Text Mining only