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Gene Symbol PHF6
Synonyms BFLS | BORJ | CENP-31
Gene Description PHF6, PHD finger protein 6, is involved in chromatin organization, interacts with several factors that regulate transcription, and plays a role in cell-cycle regulation via suppression of ribosomal RNA transcription (PMID: 23229552, PMID: 28607179, PMID: 26103525). PHF6 inactivating mutations have been observed in T-cell acute lymphoblastic leukemia and acute myeloid leukemia (PMID: 20228800, PMID: 21030981, PMID: 26103525) and Phf6 overexpression has been observed in hepatocellular carcinoma (PMID: 30888215).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
84295 X Xq26.2 NM_001015877 Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A40V missense unknown PHF6 A40V lies within the C2HC pre-PHD-type zinc finger domain 1 of the Phf6 protein (UniProt.org). A40V has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
C242Y missense unknown PHF6 C242Y lies within the C2HC pre-PHD-type zinc finger domain 2 of the Phf6 protein (UniProt.org). C242Y has been identified in the scientific literature (PMID: 22237025), but has not been biochemically characterized and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
C292S missense unknown PHF6 C292S lies within the PHD-type domain 2 of the Phf6 protein (UniProt.org). C292S has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
D141N missense unknown PHF6 D141N does not lie within any known functional domains of the Phf6 protein (UniProt.org). D141N has been identified in sequencing studies (PMID: 27118404), but has not been biochemically characterized and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
D262N missense unknown PHF6 D262N lies within the extended PHD2 domain of the Phf6 protein (UniProt.org). D262N has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
D264* nonsense loss of function - predicted PHF6 D264* results in a premature truncation of the Phf6 protein at amino acid 264 of 365 (UniProt.org). Due to the loss of the PHD-type zinc finger 2 (UniProt.org), D264* is predicted to lead to a loss of Phf6 protein function.
D264H missense unknown PHF6 D264H lies within the extended PHD2 domain of the Phf6 protein (UniProt.org). D264H has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
E117D missense unknown PHF6 E117D lies within the PHD-type zinc finger domain 1 of the Phf6 protein (UniProt.org). E117D has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
E139* nonsense loss of function - predicted PHF6 E139* results in a premature truncation of the Phf6 protein at amino acid 139 of 365 (UniProt.org). Due to the loss of the extended PHD2 domain (UniProt.org), E139* is predicted to result in a loss of Phf6 protein function.
E139K missense unknown PHF6 E139K does not lie within any known functional domains of the Phf6 protein (UniProt.org). E139K has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
E189D missense unknown PHF6 E189D does not lie within any known functional domains of the Phf6 protein (UniProt.org). E189D has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
E189K missense unknown PHF6 E189K does not lie within any known functional domains of the Phf6 protein (UniProt.org). E189K has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
E68* nonsense loss of function - predicted PHF6 E68* results in a premature truncation of the Phf6 protein at amino acid 68 of 365 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E68* is predicted to lead to a loss of Phf6 protein function.
F214* nonsense loss of function - predicted PHF6 F214* results in a premature truncation of the Phf6 protein at amino acid 214 of 365 (UniProt.org). Due to the loss of the PHD-type zinc finger 2 (UniProt.org), F214* is predicted to lead to a loss of Phf6 protein function.
G213V missense unknown PHF6 G213V lies within the C2HC pre-PHD-type zinc finger domain 2 of the Phf6 protein (UniProt.org). G213V has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
G226E missense unknown PHF6 G226E lies within the C2HC pre-PHD-type zinc finger domain 2 of the Phf6 protein (UniProt.org). G226E has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
G226R missense unknown PHF6 G226R lies within the C2HC pre-PHD-type zinc finger domain 2 of the Phf6 protein (UniProt.org). G226R has been identified in sequencing studies (PMID: 28671688), but has not been biochemically characterized and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
G248C missense unknown PHF6 G248C lies within the C2HC pre-PHD-type zinc finger domain 2 of the Phf6 protein (UniProt.org). G248C has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
G287V missense unknown PHF6 G287V lies within the PHD-type zinc finger domain 2 of the Phf6 protein (UniProt.org). G287V has been identified in the scientific literature (PMID: 22237025), but has not been biochemically characterized and therefore, its effect on Phf6 protein function is unknown (PubMed, Dec 2020).
G63C missense unknown PHF6 G63C lies within the extended PHD1 domain of the Phf6 protein (UniProt.org). G63C has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
G93C missense unknown PHF6 G93C lies within the PHD-type zinc finger domain 1 of the Phf6 protein (UniProt.org). G93C has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
H110Q missense unknown PHF6 H110Q lies within the PHD-type zinc finger domain 1 of the Phf6 protein (UniProt.org). H110Q has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
H131Q missense unknown PHF6 H131Q lies within the PHD-type zinc finger domain 1 and a nuclear localization signal motif of the Phf6 protein (UniProt.org). H131Q has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Dec 2020).
inact mut unknown loss of function PHF6 inact mut indicates that this variant results in a loss of function of the Phf6 protein. However, the specific amino acid change has not been identified.
K132N missense unknown PHF6 K132N lies within the PHD-type zinc finger domain 1 and a nuclear localization signal motif of the Phf6 protein (UniProt.org). K132N has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Dec 2020).
K132R missense unknown PHF6 K132R lies within the PHD-type zinc finger domain 1 and a nuclear localization signal motif of the Phf6 protein (UniProt.org). K132R has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Dec 2020).
K164R missense unknown PHF6 K164R lies within the nucleolar localization motif of the Phf6 protein (UniProt.org). K164R has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
K169T missense unknown PHF6 K169T lies within the nucleolar localization motif of the Phf6 protein (UniProt.org). K169T has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
K21N missense unknown PHF6 K21N lies within the C2HC pre-PHD-type zinc finger domain 1 of the Phf6 protein (UniProt.org). K21N has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
K299N missense unknown PHF6 K299N lies within the PHD-type zinc finger domain 2 of the Phf6 protein (UniProt.org). K299N has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Dec 2020).
M190I missense unknown PHF6 M190I does not lie within any known functional domains of the Phf6 protein (UniProt.org). M190I has been identified in the scientific literature (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
M1? unknown loss of function - predicted PHF6 M1? indicates a disruption of the methionine (M) start codon with an unknown translational effect on the Phf6 protein. M1? has not been characterized and therefore, its effect on Phf6 protein function is unknown (PubMed, Dec 2019).
mutant unknown unknown PHF6 mutant indicates an unspecified mutation in the PHF6 gene.
N171I missense unknown PHF6 N171I does not lie within any known functional domains of the Phf6 protein (UniProt.org). N171I has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
N23Kfs*2 frameshift loss of function - predicted PHF6 N23Kfs*2 likely results in a truncation of the 365 aa Phf6 protein at aa 23, followed by 2 nonsense amino acids (UniProt.org). Due to the loss of all known functional domains (UniProt.org), N23Kfs*2 is predicted to result in a loss of Phf6 protein function.
N328Y missense unknown PHF6 N328Y lies within the PHD-type domain 2 of the Phf6 protein (UniProt.org). N328Y has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
Q251K missense unknown PHF6 Q251K lies within the extended PHD2 domain of the Phf6 protein (UniProt.org). Q251K has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
R116Q missense unknown PHF6 R116Q lies within the PHD-type zinc finger domain 1 of the Phf6 protein (UniProt.org). R116Q has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
R196K missense unknown PHF6 R196K does not lie within any known functional domains of the Phf6 protein (UniProt.org). R196K has been identified in the scientific literature (PMID: 27347093), but has not been biochemically characterized and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
R274* nonsense loss of function - predicted PHF6 R274* results in a premature truncation of the Phf6 protein at amino acid 274 of 365 (UniProt.org). Due to the loss of the PHD-type zinc finger 2 (UniProt.org), D274* is predicted to lead to a loss of Phf6 protein function.
R274L missense unknown PHF6 R274L lies within the extended PHD2 domain of the Phf6 protein (UniProt.org). R274L has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
R319* nonsense unknown PHF6 R319* results in a premature truncation of the Phf6 protein at amino acid 319 of 365 (UniProt.org). R319* has been identified in sequencing studies (PMID: 27347093), but has not been biochemically characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
R319L missense unknown PHF6 R319L lies within the PHD-type zinc finger domain 2 of the Phf6 protein (UniProt.org). R319L has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Phf6 protein function is unknown (PubMed, Dec 2020).
S2* nonsense loss of function - predicted PHF6 S2* results in a premature truncation of the Phf6 protein at amino acid 2 of 365 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), S2* is predicted to lead to a loss of Phf6 protein function.
S204I missense unknown PHF6 S204I does not lie within any known functional domains of the Phf6 protein (UniProt.org). S204I has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
S4L missense unknown PHF6 S4L does not lie within any known functional domains of the Phf6 protein (UniProt.org). S4L has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
S83Y missense unknown PHF6 S83Y lies within the PHD-type zinc finger domain 1 of the Phf6 protein (UniProt.org). S83Y has not been characterized in the scientific literature and therefore, its effect on Phf6 protein function is unknown (PubMed, Nov 2020).
V298I missense unknown PHF6 V298I lies within the PHD-type zinc finger domain 2 of the Phf6 protein (UniProt.org). V298I has been identified in sequencing studies (PMID: 24816253), but has not been biochemically characterized and therefore, its effect on Phf6 protein function is unknown (PubMed, Dec 2020).