YY1AP1 (YY1 associated protein 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 55249
Gene name YY1 associated protein 1
Gene symbol YY1AP1
Synonyms (NCBI Gene)
GRNGHCCA1HCCA2YY1AP
Chromosome 1
Chromosome location 1q22
Summary The encoded gene product presumably interacts with YY1 protein; however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
SNPs SNP information provided by dbSNP.
7
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (7)
SNP ID Visualize variation Clinical significance Consequence
rs199653824 C>T Pathogenic Splice acceptor variant
rs749232831 G>A,C Pathogenic Coding sequence variant, stop gained, missense variant
rs759089960 CAGA>- Pathogenic Frameshift variant, 3 prime UTR variant, coding sequence variant
rs1057519597 A>C,T Pathogenic 3 prime UTR variant, stop gained, coding sequence variant
rs1057519598 C>A Pathogenic 3 prime UTR variant, stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT004478 hsa-miR-375 Luciferase reporter assayWestern blot 20226166
MIRT046762 hsa-miR-222-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0001650 Component Fibrillar center IDA
GO:0005515 Function Protein binding IPI 14744866, 16713569, 17541814, 27939641, 28514442, 32296183, 32814053
GO:0005634 Component Nucleus IDA 17541814, 27939641
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA 27939641
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
607860 30935 ENSG00000163374
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.
Q9H869
Protein name YY1-associated protein 1 (Hepatocellular carcinoma susceptibility protein) (Hepatocellular carcinoma-associated protein 2)
Protein function Associates with the INO80 chromatin remodeling complex, which is responsible for transcriptional regulation, DNA repair, and replication (PubMed:27939641). Enhances transcription activation by YY1 (PubMed:14744866). Plays a role in cell cycle re
Family and domains
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Detected in small intestine, skeletal muscle, lung, pancreas, brain, stomach, spleen, colon and heart. Detected at very low levels in healthy liver. Highly expressed in most liver carcinomas. {ECO:0000269|PubMed:11710830, E
Sequence 
MEEEASRSAAATNPGSRLTRWPPPDKREGSAVDPGKRRSLAATPSSSLPCTLIALGLRHE
KEANELMEDLFETFQDEMGFSNMEDDGPEEEERVAEPQANFNTPQALRFEELLANLLNEQ
HQIAKELFEQLKMKKPSAKQQKEVEKVKPQCKEVHQTLILDPAQRKRLQQQMQQHVQLLT
QIHLLATCNPNLNPEASSTRICLKELGTFAQSSIALHHQYNPKFQTLFQPCNLMGAMQLI
EDFSTHVSIDCSPHKTVKKTANEFPCLPKQVAWILATSKVFMYPELLPVCSLKAKNPQDK
ILFTKAEDNKYLLTCKTARQLTVRIKNLNMNRAPDNIIKFYKKTKQLPVLGKCCEEIQPH
QWKPPIEREEHRLPFWLKASLPSIQEELRHMADGAREVGNMTGTTEINSDQGLEKDNSEL
GSETRYPLLLPKGVVLKLKPVADRFPKKAWRQKRSSVLKPLLIQPSPSLQPSFNPGKTPA
QSTHSEAPPSKMVLRIPHPIQPATVLQTVPGVPPLGVSGGESFESPAALPAMPPEARTSF
PLSESQTLLSSAPVPKVMMPSPASSMFRKPYVRRRPSKRRGARAFRCIKPAPVIHPASVI
FTVPATTVKIVSLGGGCNMIQPVNAAVAQSPQTIPIATLLVNPTSFPCPLNQPLVASSVS
PLIVSGNSVNLPIPSTPEDKAHMNVDIACAVADGENAFQGLEPKLEPQELSPLSATVFPK
VEHSPGPPPVDKQCQEGLSENSAYRWTVVKTEEGRQALEPLPQGIQESLNNSSPGDLEEV
VKMEPEDATEEISGFL
Sequence length 796
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Gene SNPs miRNA Gene ontology Other IDs Protein 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 (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Grange syndrome Likely pathogenic; Pathogenic rs2149039608, rs1388180864, rs778646700, rs749232831, rs1057519597, rs1057519598, rs759089960, rs1057519599, rs199653824, rs1558307853 RCV001420675
RCV002226948
RCV003990551
RCV000417115
RCV000417119
View all (5 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
YY1AP1-related disorder Likely pathogenic; Pathogenic rs1057519599 RCV003409584
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (4)
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
ARTERIAL OCCLUSIVE DISEASE, PROGRESSIVE, WITH HYPERTENSION, HEART DEFECTS, BONE FRAGILITY, AND BRACHYSYNDACTYLY — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MARFAN SYNDROME — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (43)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 29037809
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Valve Insufficiency Aortic Valve Insufficiency HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Arterial Occlusive Disease Progressive with Hypertension Heart Defects Bone Fragility and Brachysyndactyly Progressive arterial occlusive disease with hypertension Pubtator 27939641, 30556293, 33971976 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly Grange syndrome BEFREE 27939641, 30556293, 31270375, 31633303
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly Grange syndrome ORPHANET_DG 27939641
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly Grange syndrome GENOMICS_ENGLAND_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly Grange syndrome CLINVAR_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly Grange syndrome CTD_human_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arterial Occlusive Diseases Arterial occlusive disease Pubtator 31474762 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Borderline intellectual disability Mental retardation HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only