SKI (SKI proto-oncogene)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6497
Gene name SKI proto-oncogene
Gene symbol SKI
Synonyms (NCBI Gene)
SGSSKV
Chromosome 1
Chromosome location 1p36.33-p36.32
Summary This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 200
SNPs SNP information provided by dbSNP.
21
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (21)
SNP ID Visualize variation Clinical significance Consequence
rs149642284 C>T Benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign Synonymous variant, genic upstream transcript variant, coding sequence variant
rs370921440 C>T Benign-likely-benign, conflicting-interpretations-of-pathogenicity Intron variant
rs372950890 C>G,T Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs387907303 G>A Pathogenic Coding sequence variant, missense variant, genic upstream transcript variant
rs387907304 C>G,T Pathogenic Synonymous variant, coding sequence variant, missense variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
1434
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1434)
miRTarBase ID miRNA Experiments Reference
MIRT004390 hsa-miR-195-5p MicroarrayNorthern blot 16331254
MIRT005885 hsa-miR-155-5p ImmunohistochemistryLuciferase reporter assayNorthern blotqRT-PCRWestern blot 21062812
MIRT005885 hsa-miR-155-5p ImmunohistochemistryLuciferase reporter assayNorthern blotqRT-PCRWestern blot 21062812
MIRT005885 hsa-miR-155-5p Luciferase reporter assay 21466664
MIRT016163 hsa-miR-590-3p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
71
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (71)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 17469184
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 12435627
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
164780 10896 ENSG00000157933
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P12755
Protein name Ski oncogene (Proto-oncogene c-Ski)
Protein function May play a role in terminal differentiation of skeletal muscle cells but not in the determination of cells to the myogenic lineage. Functions as a repressor of TGF-beta signaling.
PDB 1MR1 , 1SBX , 5XOD , 6ZVQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02437 Ski_Sno 84 → 191 SKI/SNO/DAC family Family
PF08782 c-SKI_SMAD_bind 217 → 311 c-SKI Smad4 binding domain Domain
Sequence 
MEAAAGGRGCFQPHPGLQKTLEQFHLSSMSSLGGPAAFSARWAQEAYKKESAKEAGAAAV
PAPVPAATEPPPVLHLPAIQPPPPVLPGPFFMPSDRSTERCETVLEGETISCFVVGGEKR
LCLPQILNSVLRDFSLQQINAVCDELHIYCSRCTADQLEILKVMGILPFSAPSCGLITKT
DAERLCNALLYGGAYPPPCKKELAASLALGLELSERSVRVYHECFGKCKGLLVPELYSSP
SAACIQCLDCRLMYPPHKFVVHSHKALENRTCHWGFDSANWRAYILLSQDYTGKEEQARL
GRCLDDVKEKFDYGNKYKRRVPRVSSEPPASIRPKTDDTSSQSPAPSEKDKPSSWLRTLA
GSSNKSLGCVHPRQRLSAFRPWSPAVSASEKELSPHLPALIRDSFYSYKSFETAVAPNVA
LAPPAQQKVVSSPPCAAAVSRAPEPLATCTQPRKRKLTVDTPGAPETLAPVAAPEEDKDS
EAEVEVESREEFTSSLSSLSSPSFTSSSSAKDLGSPGARALPSAVPDAAAPADAPSGLEA
ELEHLRQALEGGLDTKEAKEKFLHEVVKMRVKQEEKLSAALQAKRSLHQELEFLRVAKKE
KLREATEAKRNLRKEIERLRAENEKKMKEANESRLRLKRELEQARQARVCDKGCEAGRLR
AKYSAQIEDLQVKLQHAEADREQLRADLLREREAREHLEKVVKELQEQLWPRARPEAAGS
EGAAELEP
Sequence length 728
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  TGF-beta signaling pathway   Signaling by BMP
Downregulation of SMAD2/3:SMAD4 transcriptional activity
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
45
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Disproportionate tall stature Likely pathogenic; Pathogenic rs863223722 RCV000585638
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection Pathogenic rs387907306, rs397514590 RCV004086922
RCV004018704
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability Likely pathogenic; Pathogenic rs869312901 RCV005626446
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental abnormality Likely pathogenic rs1569656981 RCV001264705
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (39)
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
1P36 DELETION SYNDROME — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia Benign; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arterial dissection Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (181)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
1p36 deletion syndrome 1p36 deletion syndrome Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acrania Acrania CTD_human_DG 9284043
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute intermittent porphyria Intermittent Porphyria BEFREE 29534839
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 26374103
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28627406
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma LHGDN 19096149
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 30642396
★★★★★
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Albinism, Ocular Ocular albinism HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Macrocytic Macrocytic anemia Pubtator 30249787 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only