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Ask your administrator if you think this is wrong. ======= PHF6 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: PHF6 * **<color #00a2e8>Official Name</color>**: PHD finger protein 6 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=84295|84295]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8IWS0|Q8IWS0]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PHF6&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PHF6|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/300414|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by cognitive disability, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010]. * **<color #00a2e8>UniProt Summary</color>**: N/A <button type='default' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> No Pfam Domain information is available for this gene. </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |hatching| |organism emergence from protective structure| |blastocyst hatching| |ribonucleoprotein complex binding| |phosphoprotein binding| |tubulin binding| |scaffold protein binding| |condensed chromosome kinetochore| |blastocyst development| |histone deacetylase binding| |histone binding| |DNA-binding transcription repressor activity, RNA polymerase II-specific| |enzyme binding| |in utero embryonic development| |sequence-specific DNA binding| |chordate embryonic development| |embryo development ending in birth or egg hatching| |nucleolus| |negative regulation of transcription by RNA polymerase II| |embryo development| |negative regulation of transcription, DNA-templated| |negative regulation of nucleic acid-templated transcription| |negative regulation of RNA biosynthetic process| |negative regulation of RNA metabolic process| |negative regulation of cellular macromolecule biosynthetic process| |RNA binding| |negative regulation of nucleobase-containing compound metabolic process| |negative regulation of macromolecule biosynthetic process| |negative regulation of cellular biosynthetic process| |negative regulation of biosynthetic process| |negative regulation of gene expression| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp160|Ribavirin 10 to 15μM on day4 R04 exp160]]|-1.92| |[[:results:exp452|Azithromycin 100μM R08 exp452]]|-1.86| |[[:results:exp139|Nicotinamide Riboside 100μM R03 exp139]]|-1.85| |[[:results:exp151|SGC0946 7μM R03 exp151]]|-1.85| |[[:results:exp189|Temozolomide 200μM R04 exp189]]|-1.81| |[[:results:exp514|Phorbol-12-myristate-13-acetate 0.57μM R08 exp514]]|-1.79| |[[:results:exp155|UNC1999 2μM R03 exp155]]|-1.79| |[[:results:exp226|Cerivastatin 0.15μM R05 exp226]]|-1.75| |[[:results:exp187|proTAME 5μM R04 exp187]]|-1.74| |[[:results:exp451|Atovaquone 15μM R08 exp451]]|1.8| |[[:results:exp290|LLY-283 2.6μM R06 exp290]]|1.8| |[[:results:exp515|PU-H71 1μM R08 exp515]]|1.81| |[[:results:exp335|Aminopterin 0.005μM R07 exp335]]|1.82| |[[:results:exp81|Selumetinib 20μM R02 exp81]]|1.84| |[[:results:exp164|Q15 1 to 2μM on day4 R04 exp164]]|1.86| |[[:results:exp36|TRAIL 50ng/ml R00 exp36]]|1.88| |[[:results:exp35|TRAIL 5ng/ml R00 exp35]]|1.99| |[[:results:exp115|A-366 10μM R03 exp115]]|2.09| |[[:results:exp443|SNS-032 15μM R08 exp443]]|2.17| |[[:results:exp531|THZ1 0.06μM R08 exp531]]|2.18| |[[:results:exp497|Lead acetate 2000μM R08 exp497]]|2.2| |[[:results:exp259|6-Thio-2-deoxyguanosine 2μM R06 exp259]]|2.31| |[[:results:exp83|Trametinib 10μM R02 exp83]]|2.55| |[[:results:exp498|Lead acetate 2000μM R08 exp498 no dilution day6]]|2.59| |[[:results:exp191|Hypoxia 5%O2 R04 exp191]]|2.91| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> ^Gene^Correlation^ |[[:human genes:p:phip|PHIP]]|0.559| |[[:human genes:k:kctd5|KCTD5]]|0.403| </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/683 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/26| |bone|0/25| |breast|0/30| |central nervous system|0/49| |cervix|0/4| |colorectal|0/17| |esophagus|0/11| |fibroblast|0/1| |gastric|0/14| |kidney|0/18| |liver|0/19| |lung|0/72| |lymphocyte|0/14| |ovary|0/25| |pancreas|0/22| |peripheral nervous system|0/15| |plasma cell|0/12| |prostate|0/1| |skin|0/20| |soft tissue|0/7| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/28| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 18505 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.49 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='PHF6 Expression in NALM6 Cells: 6.49'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:36by 127.0.0.1