Gene Gene information from NCBI Gene database.
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
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
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
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.
MIM HGNC e!Ensembl
611428 2993 ENSG00000159147
Protein Protein information from UniProt database.
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
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
DONSON-related disorder Pathogenic; Likely pathogenic rs542296982, rs534299298, rs779149681 RCV003418422
RCV003899490
RCV003403146
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meier-Gorlin syndrome Pathogenic; Likely pathogenic rs774616573, rs774052186, rs752810960, rs1010722195 RCV001527359
RCV001527358
RCV001527368
RCV001527367
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meier-Gorlin syndrome 1 Likely pathogenic; Pathogenic rs2145910302 RCV001533010
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (7 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
COLORECTAL NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DNA REPLICATION FORK STABILIZATION FACTOR DONSON-RELATED MICROCEPHALY, SHORT STATURE, LIMB ABNORMALITIES SPECTRUM Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DONSON-related Meier-Gorlin syndrome 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
Anophthalmos with limb anomalies Anophthalmia Pubtator 31784481 Associate
★☆☆☆☆
Found in Text Mining only
Brachydactyly Brachydactyly HPO_DG
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 39684297 Associate
★☆☆☆☆
Found in Text Mining only
Chromosomal Instability Chromosomal instability Pubtator 28191891 Associate
★☆☆☆☆
Found in Text Mining only
Clinodactyly of the 5th finger Camptodactyly of fingers HPO_DG
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer CTD_human_DG 25944804
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms CTD_human_DG 25944804
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital clubfoot Congenital Clubfoot HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital dislocation of radial head Dislocated radial head HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital hypoplasia of lung Pulmonary hypoplasia HPO_DG
★☆☆☆☆
Found in Text Mining only