Gene Gene information from NCBI Gene database.
Entrez ID 7528
Gene name YY1 transcription factor
Gene symbol YY1
Synonyms (NCBI Gene)
DELTAGADEVSINO80SNF-E1UCRBPYIN-YANG-1
Chromosome 14
Chromosome location 14q32.2
Summary YY1 is a ubiquitously distributed transcription factor belonging to the GLI-Kruppel class of zinc finger proteins. The protein is involved in repressing and activating a diverse number of promoters. YY1 may direct histone deacetylases and histone acetylt
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs1131692046 A>T Pathogenic Coding sequence variant, stop gained
rs1555368900 AG>- Likely-pathogenic Coding sequence variant, frameshift variant
rs1555370811 TTAAA>- Pathogenic Coding sequence variant, frameshift variant
rs1595309671 G>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
948
miRTarBase ID miRNA Experiments Reference
MIRT004968 hsa-miR-31-5p Luciferase reporter assayqRT-PCR 19524507
MIRT004045 hsa-miR-34a-5p Luciferase reporter assayWestern blot 21182263
MIRT004045 hsa-miR-34a-5p Luciferase reporter assayWestern blot 21182263
MIRT004045 hsa-miR-34a-5p Reporter assay 21182263
MIRT004045 hsa-miR-34a-5p Reporter assay;Proteomics 21566225
Transcription factors Transcription factors information provided by TRRUST V2 database.
11
Transcription factor Regulation Reference
EP300 Unknown 11486036
HDAC5 Activation 18632988
KAT2B Unknown 11486036
NFKB1 Repression 16784892
NFKB1 Unknown 17438126
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
91
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 9857059
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 1655281, 1946405, 16260628
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000400 Function Four-way junction DNA binding IDA 18026119
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600013 12856 ENSG00000100811
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P25490
Protein name Transcriptional repressor protein YY1 (Delta transcription factor) (INO80 complex subunit S) (NF-E1) (Yin and yang 1) (YY-1)
Protein function Multifunctional transcription factor that exhibits positive and negative control on a large number of cellular and viral genes by binding to sites overlapping the transcription start site (PubMed:15329343, PubMed:17721549, PubMed:24326773, PubMe
PDB 1UBD , 1ZNM , 4C5I
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 325 347 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 353 377 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 383 407 Zinc finger, C2H2 type Domain
Sequence
MASGDTLYIATDGSEMPAEIVELHEIEVETIPVETIETTVVGEEEEEDDDDEDGGGGDHG
GGGGHGHAGHHHHHHHHHHHPPMIALQPLVTDDPTQVHHHQEVILVQTREEVVGGDDSDG
LRAEDGFEDQILIPVPAPAGGDDDYIEQTLVTVAAAGKSGGGGSSSSGGGRVKKGGGKKS
GKKSYLSGGAGAAGGGGADPGNKKWEQKQVQIKTLEGEFSVTMWSSDEKKDIDHETVVEE
QIIGENSPPDYSEYMTGKKLPPGGIPGIDLSDPKQLAEFARMKPRKIKEDDAPRTIACPH
KGCTKMFRDNSAMRKHLHTHGPRVHVCAECGKAFVESSKLKRHQLVHTGEKPFQCTFEGC
GKRFSLDFNLRTHVRIH
TGDRPYVCPFDGCNKKFAQSTNLKSHILTHAKAKNNQ
Sequence length 414
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  ATP-dependent chromatin remodeling
Polycomb repressive complex
  UCH proteinases
DNA Damage Recognition in GG-NER
TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
Estrogen-dependent gene expression
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
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
Gabriele de Vries syndrome Likely pathogenic; Pathogenic rs1890697895, rs759536629, rs2139605753, rs2139605796, rs2139605785, rs2139604254, rs2549138613, rs2549138621, rs2549138620, rs2549139334, rs2549127399, rs2549139328, rs2549139366, rs2549139353, rs1189366704
View all (6 more)
RCV001331054
RCV001507311
RCV001779355
RCV005603735
RCV005860260
View all (17 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability Likely pathogenic; Pathogenic rs2139605753, rs759536629 RCV002295351
RCV005626492
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder Likely pathogenic rs2139605815 RCV002277707
★★★★☆
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
COMPLEX NEURODEVELOPMENTAL DISORDER ClinGen, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHIES CTD
★★☆☆☆
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
Acute leukemia Leukemia BEFREE 8338950, 8501986
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 11325643, 11380394, 11839375, 1328776, 1493438, 1648373, 1824678, 2174915, 2523429, 2529925, 2848865, 29616858, 8118037, 8756082, 9375746
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 30942957
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 25787250
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 11325643, 11839375, 1824678, 2523429, 29616858
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 20081364
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 21443683, 33920138 Associate
★☆☆☆☆
Found in Text Mining only
AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1 Amelogenesis Imperfecta, X-Linked BEFREE 29358858
★☆☆☆☆
Found in Text Mining only
Anodontia Anodontia Pubtator 31828582 Associate
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 24884523, 28867247, 29168185
★☆☆☆☆
Found in Text Mining only