DONSON (DNA replication fork stabilization factor DONSON)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 29980
Gene name DNA replication fork stabilization factor DONSON
Gene symbol DONSON
Synonyms (NCBI Gene)
B17C21orf60MIMISMISSLA
Chromosome 21
Chromosome location 21q22.11
Summary This gene lies downstream of the SON gene and spans 10 kb on chromosome 21. The function of this gene is unknown. [provided by RefSeq, Jul 2008]
SNPs SNP information provided by dbSNP.
13
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (13)
SNP ID Visualize variation Clinical significance Consequence
rs146664036 T>C,G Uncertain-significance, pathogenic, likely-pathogenic, benign Missense variant, coding sequence variant
rs192585552 T>C Pathogenic Intron variant
rs534299298 C>A,T Pathogenic Splice donor variant
rs765112107 ->A Pathogenic Stop gained, coding sequence variant
rs768071555 T>G Pathogenic, uncertain-significance, benign Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
406
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (406)
miRTarBase ID miRNA Experiments Reference
MIRT016303 hsa-miR-193b-3p Microarray 20304954
MIRT028777 hsa-miR-26b-5p Microarray 19088304
MIRT046340 hsa-miR-23b-3p CLASH 23622248
MIRT606920 hsa-miR-8485 HITS-CLIP 19536157
MIRT539832 hsa-miR-329-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (12)
GO ID Ontology Definition Evidence Reference
GO:0000077 Process DNA damage checkpoint signaling IMP 28191891
GO:0005515 Function Protein binding IPI 28191891, 32769987
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 28191891
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611428 2993 ENSG00000159147
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NYP3
Protein name Protein downstream neighbor of Son (B17)
Protein function Replisome component that maintains genome stability by protecting stalled or damaged replication forks. After the induction of replication stress, required for the stabilization of stalled replication forks, the efficient activation of the intra
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in the brain, with higher levels in prenatal compared to adult brain. {ECO:0000269|PubMed:28630177}.
Sequence 
MALSVPGYSPGFRKPPEVVRLRRKRARSRGAAASPPRELTEPAARRAALVAGLPLRPFPA
AGGRGGGSGGGPAAARRNPFARLDNRPRVAAEPPDGPAREQPEAPVPFLDSNQENDLLWE
EKFPERTTVTELPQTSHVSFSEPDIPSSKSTELPVDWSIKTRLLFTSSQPFTWADHLKAQ
EEAQGLVQHCRATEVTLPKSIQDPKLSSELRCTFQQSLIYWLHPALSWLPLFPRIGADRK
MAGKTSPWSNDATLQHVLMSDWSVSFTSLYNLLKTKLCPYFYVCTYQFTVLFRAAGLAGS
DLITALISPTTRGLREAMRNEGIEFSLPLIKESGHKKETASGTSLGYGEEQAISDEDEEE
SFSWLEEMGVQDKIKKPDILSIKLRKEKHEVQMDHRPESVVLVKGINTFTLLNFLINSKS
LVATSGPQAGLPPTLLSPVAFRGATMQMLKARSVNVKTQALSGYRDQFSLEITGPIMPHS
LHSLTMLLKSSQSGSFSAVLYPHEPTAVFNICLQMDKVLDMEVVHKELTNCGLHPNTLEQ
LSQIPLLGKSSLRNVVLRDYIYNWRS
Sequence length 566
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
66
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (7)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DONSON-related disorder Pathogenic; Likely pathogenic rs542296982, rs534299298, rs779149681 RCV003418422
RCV003899490
RCV003403146
Meier-Gorlin syndrome Pathogenic; Likely pathogenic rs774616573, rs774052186, rs752810960, rs1010722195 RCV001527359
RCV001527358
RCV001527368
RCV001527367
Meier-Gorlin syndrome 1 Likely pathogenic; Pathogenic rs2145910302 RCV001533010
Microcephaly, short stature, and limb abnormalities Likely pathogenic; Pathogenic rs1010722195, rs2517484685, rs2517474861, rs2517470416, rs779149681, rs1135401959, rs1135401961, rs993687029, rs779803447, rs777061964, rs765112107, rs534299298 RCV003314693
RCV003315110
RCV004018312
RCV004547213
RCV000496975
RCV000496967
RCV000496969
RCV000496972
RCV000496973
RCV000578432
RCV002226718
RCV000714886
Show/Hide Unknown Diseases (7)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs192585552, rs1569077147 -
DONSON-related Meier-Gorlin syndrome Conflicting classifications of pathogenicity rs367904759, rs1028163227 RCV001310229
RCV001310228
Hepatocellular carcinoma Benign rs190773441 RCV005921133
Malignant lymphoma, large B-cell, diffuse Benign rs190773441 RCV005921134
Show/Hide Text Mining Associations (22)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anophthalmos with limb anomalies Associate 31784481
Breast Neoplasms Associate 39684297
Chromosomal Instability Associate 28191891
Chromosome Disorders Associate 29760432
Down Syndrome Associate 28019128
Dwarfism Associate 31407851
Fanconi Anemia Associate 29760432
Femoral facial syndrome Associate 31407851
Glioma Associate 32016978
Growth Disorders Associate 29760432, 31320746, 31407851, 31784481