Ensembl ID ENSG00000156531 Gene ID 84295 Accession 18145
Gene Symbol PHF6 Alias BFLS;BORJ;CENP-31 Full Name PHD finger protein 6
Position X : 134373288 - 134428791 Length 55504 bases Strand Plus strand
Status Confidence Main interacting RNAsN.A.RBP type Non-canonical_RBPs
Summary 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]

ENSG00000156531 Expression In 33 Tumors

Ensembl ID Gene symbol Log2 Foldchange Pvaue Cancer
ENSG00000156531 PHF6 -0.5 1.06e-17 KIRC
ENSG00000156531 PHF6 0.48 3.30e-16 BRCA
ENSG00000156531 PHF6 0.82 2.26e-14 COAD
ENSG00000156531 PHF6 1.01 1.86e-42 LUSC
ENSG00000156531 PHF6 0.87 1.25e-13 STAD
ENSG00000156531 PHF6 0.72 4.67e-21 LUAD
Ensembl ID Gene symbol Cancer types Pubmed ID
ENSG00000156531 PHF6 cancer 19522865
ENSG00000156531 PHF6 tumor 20228800
ENSG00000156531 PHF6 cancer 20806366
ENSG00000156531 PHF6 AMLs 21030981
ENSG00000156531 PHF6 tumor 21642990
ENSG00000156531 PHF6 cancers 21736506
ENSG00000156531 PHF6 cancer 22675565
ENSG00000156531 PHF6 acute myeloid leukemia (AML) 22720776
ENSG00000156531 PHF6 tumor 23229552
ENSG00000156531 PHF6 tumor 24674452
ENSG00000156531 PHF6 tumor 24895337
ENSG00000156531 PHF6 tumor 25737277
ENSG00000156531 PHF6 tumour 26103525
ENSG00000156531 PHF6 cancers 26561469
ENSG00000156531 PHF6 AML 27022003
ENSG00000156531 PHF6 AML 27050425
ENSG00000156531 PHF6 AML with recurrent genetic abnormalities 27137476
ENSG00000156531 PHF6 lymphoid tumors 27347093
ENSG00000156531 PHF6 tumor 27602765
ENSG00000156531 PHF6 AML 28197208
ENSG00000156531 PHF6 tumor 28270163
ENSG00000156531 PHF6 AML 28321123
ENSG00000156531 PHF6 tumors 28675510
ENSG00000156531 PHF6 AML 29270125
ENSG00000156531 PHF6 tumor 29435192
ENSG00000156531 PHF6 AML 29441563
ENSG00000156531 PHF6 tumor 29785014
ENSG00000156531 PHF6 AML 30083851
ENSG00000156531 PHF6 tumors 30117174
ENSG00000156531 PHF6 cancer 30556094
ENSG00000156531 PHF6 hematopoietic tumor 30755422
ENSG00000156531 PHF6 tumor 30888215
ENSG00000156531 PHF6 tumor 30917958
ENSG00000156531 PHF6 tumor 31000514
ENSG00000156531 PHF6 tumor 31329335
ENSG00000156531 PHF6 cancers 31782600
Ensembl ID Gene symbol Disease/phenotype Mutation type Mutated / Total samples Literature
ENSG00000156531 PHF6 T-cell acute lymphoblastic leukemia transcript_ablation 17.96% (275/1531) 3 entries
ENSG00000156531 PHF6 T-cell acute lymphoblastic leukemia sequence_alteration 17.96% (275/1531) 10 entries
ENSG00000156531 PHF6 T-cell acute lymphoblastic leukemia amino_acid_insertion 17.96% (275/1531) 2 entries
ENSG00000156531 PHF6 breast ductal adenocarcinoma sequence_alteration 5.968% (37/620) 2 entries
ENSG00000156531 PHF6 T-cell acute lymphoblastic leukemia missense_variant 17.96% (275/1531) 13 entries
ENSG00000156531 PHF6 T-cell acute lymphoblastic leukemia stop_gained 17.96% (275/1531) 14 entries
ENSG00000156531 PHF6 T-cell acute lymphoblastic leukemia frameshift_variant 17.96% (275/1531) 12 entries
ENSG00000156531 PHF6 myelodysplastic syndrome frameshift_variant 2.16% (21/972) 2 entries
ENSG00000156531 PHF6 chronic lymphocytic leukemia sequence_alteration 0.8999% (8/889) 1 entry
ENSG00000156531 PHF6 chronic myelomonocytic leukemia missense_variant 2.614% (4/153) 2 entries
ENSG00000156531 PHF6 breast ductal adenocarcinoma stop_gained 5.968% (37/620) 1 entry
ENSG00000156531 PHF6 hemangioblastoma sequence_alteration 9.375% (3/32) 1 entry
ENSG00000156531 PHF6 chronic myelomonocytic leukemia frameshift_variant 2.614% (4/153) 2 entries
ENSG00000156531 PHF6 pancreatic ductal adenocarcinoma frameshift_variant 1.48% (19/1284) 1 entry
ENSG00000156531 PHF6 T-cell acute lymphoblastic leukemia conservative_inframe_deletion 17.96% (275/1531) 1 entry
ENSG00000156531 PHF6 colorectal adenocarcinoma missense_variant 1.188% (14/1178) 3 entries
ENSG00000156531 PHF6 brain glioblastoma sequence_alteration 0.3233% (3/928) 1 entry
ENSG00000156531 PHF6 acute myeloid leukemia stop_gained 2.153% (96/4458) 3 entries
ENSG00000156531 PHF6 acute myeloid leukemia missense_variant 2.153% (96/4458) 6 entries
ENSG00000156531 PHF6 acute myeloid leukemia sequence_alteration 2.153% (96/4458) 2 entries
ENSG00000156531 PHF6 acute myeloid leukemia frameshift_variant 2.153% (96/4458) 7 entries
ENSG00000156531 PHF6 breast ductal adenocarcinoma frameshift_variant 5.968% (37/620) 1 entry
ENSG00000156531 PHF6 skin melanoma missense_variant 0.3052% (3/983) 1 entry
ENSG00000156531 PHF6 lung adenocarcinoma missense_variant 0.253% (3/1186) 2 entries
ENSG00000156531 PHF6 myelodysplastic syndrome stop_gained 2.16% (21/972) 3 entries
ENSG00000156531 PHF6 Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive frameshift_variant 2.273% (2/88) 1 entry
ENSG00000156531 PHF6 acute lymphoblastic leukemia frameshift_variant 1.246% (4/321) 1 entry
ENSG00000156531 PHF6 chronic myelomonocytic leukemia stop_gained 2.614% (4/153) 2 entries
ENSG00000156531 PHF6 prostate carcinoma sequence_alteration 0.939% (4/426) 1 entry
ENSG00000156531 PHF6 colorectal adenocarcinoma sequence_alteration 1.188% (14/1178) 1 entry
ENSG00000156531 PHF6 myelodysplastic syndrome missense_variant 2.16% (21/972) 2 entries
ENSG00000156531 PHF6 esophageal squamous cell carcinoma sequence_alteration 0.4438% (3/676) 1 entry
ENSG00000156531 PHF6 B-cell acute lymphoblastic leukemia stop_gained 0.3788% (1/264) 1 entry
ENSG00000156531 PHF6 angioimmunoblastic T-cell lymphoma missense_variant 1.042% (1/96) 1 entry
ENSG00000156531 PHF6 basal cell carcinoma missense_variant 1.724% (1/58) 1 entry
ENSG00000156531 PHF6 Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive missense_variant 2.273% (2/88) 1 entry
ENSG00000156531 PHF6 Gallbladder Adenocarcinoma sequence_alteration 1.149% (1/87) 1 entry
ENSG00000156531 PHF6 endometrium adenocarcinoma missense_variant 9.091% (1/11) 1 entry
ENSG00000156531 PHF6 skin melanoma sequence_alteration 0.3052% (3/983) 1 entry
ENSG00000156531 PHF6 esophageal adenocarcinoma missense_variant 0.4566% (2/438) 1 entry
ENSG00000156531 PHF6 esophageal squamous cell carcinoma missense_variant 0.4438% (3/676) 1 entry
ENSG00000156531 PHF6 kidney Wilms tumor sequence_alteration 0.6116% (2/327) 1 entry
ENSG00000156531 PHF6 Merkel cell skin cancer sequence_alteration 3.333% (1/30) 1 entry
ENSG00000156531 PHF6 multiple myeloma missense_variant 0.7692% (1/130) 1 entry
ENSG00000156531 PHF6 bladder transitional cell carcinoma missense_variant 0.7299% (1/137) 1 entry
ENSG00000156531 PHF6 gastric intestinal type adenocarcinoma missense_variant 0.9615% (1/104) 1 entry
ENSG00000156531 PHF6 kidney Wilms tumor stop_gained 0.6116% (2/327) 1 entry
ENSG00000156531 PHF6 Testicular Non-Seminomatous Germ Cell Tumor sequence_alteration 33.33% (1/3) 1 entry
ENSG00000156531 PHF6 colon adenocarcinoma missense_variant 0.277% (2/722) 1 entry
ENSG00000156531 PHF6 non-small cell lung carcinoma missense_variant 1.852% (1/54) 1 entry
ENSG00000156531 PHF6 nasopharyngeal squamous cell carcinoma missense_variant 0.5988% (1/167) 1 entry
ENSG00000156531 PHF6 ovarian serous adenocarcinoma sequence_alteration 0.1486% (1/673) 1 entry
ENSG00000156531 PHF6 hepatocellular carcinoma stop_gained 0.5325% (5/939) 1 entry
ENSG00000156531 PHF6 polycythemia vera missense_variant 2.083% (1/48) 1 entry
ENSG00000156531 PHF6 colon adenocarcinoma sequence_alteration 0.277% (2/722) 1 entry
ENSG00000156531 PHF6 prostate carcinoma frameshift_variant 0.939% (4/426) 1 entry
ENSG00000156531 PHF6 melanoma missense_variant 0.9804% (1/102) 1 entry
ENSG00000156531 PHF6 myelodysplastic syndrome sequence_alteration 2.16% (21/972) 1 entry
Ensembl ID Gene symbol Cancer P-value Which worse show
ENSG00000156531 PHF6 MESO 0.0081 high
ENSG00000156531 PHF6 SARC 0.003 high
ENSG00000156531 PHF6 STAD 0.039 low
ENSG00000156531 PHF6 PAAD 0.00085 high
ENSG00000156531 PHF6 UCEC 0.0033 high
ENSG00000156531 PHF6 THCA 0.043 low
ENSG00000156531 PHF6 ACC 7e-04 low
ENSG00000156531 PHF6 LGG 0.0012 low
ENSG00000156531 PHF6 LUSC 0.00017 low
ENSG00000156531 PHF6 HNSC 0.0043 high
ENSG00000156531 PHF6 KIRP 0.0015 high
ENSG00000156531 PHF6 BRCA 0.0025 high
ENSG00000156531 PHF6 UCS 0.021 high
ENSG00000156531 PHF6 ESCA 0.035 high
ENSG00000156531 PHF6 KIRC 0.0055 low
ENSG00000156531 PHF6 BLCA 0.021 low
ENSG00000156531 PHF6 LIHC 0.00058 high
Ensembl ID Gene symbol Cancer CNV type -log10(q-value) G-score average amplitude frequency