DONSON (DNA replication fork stabilization factor DONSON)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29980
Gene name Gene Name - the full gene name approved by the HGNC.
DNA replication fork stabilization factor DONSON
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DONSON
Synonyms (NCBI Gene) Gene synonyms aliases
B17, C21orf60, MIMIS, MISSLA
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.11
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611428 2993 ENSG00000159147
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Microcephaly-Short Stature-Limb Abnormalities Syndrome microcephaly, short stature, and limb abnormalities rs779149681, rs1135401959, rs1135401961, rs993687029, rs779803447, rs777061964, rs765112107, rs534299298 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Psoriasis Psoriasis N/A N/A GWAS
Show/Hide Text Mining Associations (22)
Associations from Text Mining Disease 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