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General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

84295

Name

PHF6

Synonymous

BFLS|BORJ|CENP-31;PHD finger protein 6;PHF6;PHD finger protein 6

Definition

PHD-like zinc finger protein|centromere protein 31

Position

Xq26.3

Gene Type

protein-coding

Gene Mutation:

PCGP germline mutation
PCGP somatic mutation
COSMIC somatic mutation

PCGP germline mutation   [Top]

There is no record for PHF6

PCGP somatic mutation   [Top]

Variant (Variant; Chr; Position)

Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin)

Disease (CancerType; ValidationStatus; SequencingType)

PHF6_L31_S34fs; chrX; 133511738

 DEL; FRAMESHIFT; TTACTAATATC; TTACTAATATC/-; SOMATICHYPO; VALID; EXOME

PHF6_S247_E8splice; chrX; 133549045

 SUB; SPLICE; G; G/T; SOMATICT-ALL; VALID; WGS

PHF6_R274Q; chrX; 133549137

 SUB; MISSENSE; G; G/A; SOMATICT-ALL; VALID; WGS

PHF6_M125I; chrX; 133527665

 SUB; MISSENSE; G; G/T; SOMATICT-ALL; VALID; WGS

PHF6_L84_E4splice; chrX; 133527530

 SUB; SPLICE; G; A/A; SOMATICT-ALL; VALID;

PHF6_N23fs; chrX; 133511714

 IFRAMESHIFT; -; -/GGCA; SOMATICT-ALL; VALID;

PHF6_R319*; chrX; 133551319

 SUB; NONSENSE; C; C/T; SOMATICT-ALL; VALID;

PHF6_G320_E9splice; chrX; 133551333

 SUB; SPLICE; G; G/A; SOMATICT-ALL; VALID;

PHF6_C242fs; chrX; 133547993

 IFRAMESHIFT; -; -/AGATTATTTCA; SOMATICT-ALL; VALID;

PHF6_S246Y; chrX; 133549053

 SUB; MISSENSE; C; C/A; SOMATICT-ALL; VALID;

PHF6_G213fs; chrX; 133547906

 IFRAMESHIFT; -; CC/CC; SOMATICT-ALL; VALID;

PHF6_E139*; chrX; 133527979

 SUB; NONSENSE; G; T/T; SOMATICT-ALL; VALID;

PHF6_R129*; chrX; 133527949

 SUB; NONSENSE; C; T/T; SOMATICT-ALL; VALID;

PHF6_Y103fs; chrX; 133527599

 IFRAMESHIFT; -; GGCCC/GGCCC; SOMATICT-ALL; VALID;

PHF6_N147fs; chrX; 133547541

 IFRAMESHIFT; -; CA/CA; SOMATICT-ALL; VALID;

PHF6_C215fs; chrX; 133547911

 IFRAMESHIFT; -; -/T; SOMATICT-ALL; VALID;

PHF6_S246fs; chrX; 133549052

 IFRAMESHIFT; -; -/ATCCT; SOMATICT-ALL; VALID;

PHF6_F263L; chrX; 133549103

 SUB; MISSENSE; T; C/C; SOMATICT-ALL; VALID;

PHF6_F263fs; chrX; 133549104

 IFRAMESHIFT; -; G/G; SOMATICT-ALL; VALID;

PHF6_R116*; chrX; 133527636

 SUB; NONSENSE; C; C/T; SOMATICT-ALL; VALID;

PHF6_R116*; chrX; 133527636

 SUB; NONSENSE; C; T/T; SOMATICT-ALL; VALID;

PHF6_R129*; chrX; 133527949

 SUB; NONSENSE; C; T/T; SOMATICT-ALL; VALID;

PHF6_C297Y; chrX; 133551254

 SUB; MISSENSE; G; G/A; SOMATICT-ALL; VALID;

COSMIC somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

c.1024C>T; p.R342*; 23:133386952-133386952

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.289A>T; p.K97*; 23:133355245-133355245

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.525_526delGT; p.S176fs*13; 23:133375293-133375294

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.779_780ins11; p.D262fs*21; 23:133376761-133376762

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.808C>T; p.Q270*; 23:133376790-133376790

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.820C>T; p.R274*; 23:133376802-133376802

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.823G>A; p.G275R; 23:133376805-133376805

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.835_835delA; p.K279fs*16; 23:133378865-133378865

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.903C>A; p.Y301*; 23:133378933-133378933

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.933_934insT; p.K312fs*1; 23:133378963-133378964

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.973T>C; p.Y325H; 23:133386901-133386901

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.986A>G; p.H329R; 23:133386914-133386914

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.76_95>TTGG; p.K26fs*50; 23:133339389-133339408

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.986A>T; p.H329L; 23:133386914-133386914

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.?; p.R274*;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.?; p.(R335)fs;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.?; p.R342*;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.?; p.H302Y;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.?; p.(C20)fs;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.?; p.A40G;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.600_600delA; p.H201fs*17; 23:133375533-133375533

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.?; p.(N171)fs;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.955C>T; p.R319*; 23:133378985-133378985

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.?; p.G122*;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.R116*;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.F172fs;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.Y303fs;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.K235*;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.A41fs;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.R274*;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.D333fs;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.R225*;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.R116*;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.C283R;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.C28fs;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.H43fs;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.123_124insAGGCA; p.H42fs*41; 23:133339436-133339437

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.T98fs;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.Y105fs;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.S158fs;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.C215Y;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.C215F;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.C215Y;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.898A>G; p.T300A; 23:133378928-133378928

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.A311P;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.C280Y;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.986A>G; p.H329R; 23:133386914-133386914

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.R257*;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.S193fs;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.C215F;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.Y303*;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.R274*;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.H136fs;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.1_1098del1098; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.1_1098del1098; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.1_1098del1098; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.1_1098del1098; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.1_1098del1098; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.1_1098del1098; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.1_1098del1098; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.1_1098del1098; p.0?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.?; p.K44E;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis

c.27_28insA; p.G10fs*12; 23:133339340-133339341

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.83_101>AT; p.C28fs*2; 23:133339396-133339414

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.90_91insCCCG; p.L31fs*6; 23:133339403-133339404

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.968+2_968+5delTAAG; p.?; 23:133379000-133379003

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.653_667>13; p.G218fs*3; 23:133375586-133375600

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.736_737insTT; p.S246fs*34; 23:133376718-133376719

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.673C>T; p.R225*; 23:133375606-133375606

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.267_268insTTAGGACC; p.A90fs*10; 23:133355223-133355224

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.902_903insA; p.Y301fs*1; 23:133378932-133378933

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.968+1G>A; p.?; 23:133378999-133378999

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.673C>T; p.R225*; 23:133375606-133375606

 livercarcinoma; hepatocellular_carcinoma

c.978T>G; p.C326W; 23:133386906-133386906

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.955C>T; p.R319*; 23:133378985-133378985

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.554_580>CCCGGGGA; p.H185fs*27; 23:133375322-133375348

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.834+1G>A; p.?; 23:133376817-133376817

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.807_808insGGCCCCTC; p.Q270fs*12; 23:133376789-133376790

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.461_462delCA; p.S154fs*3; 23:133375229-133375230

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.955C>T; p.R319*; 23:133378985-133378985

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.346C>T; p.R116*;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.404C>T; p.A135V; 23:133355634-133355634

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia

c.409_418del10; p.N137fs*3; 23:133355639-133355648

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia

c.634_635delTG; p.C212fs*11; 23:133375567-133375568

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia

c.585+6_585+7insA; p.?;

NSmalignant_melanoma

c.351G>T; p.E117D;

large_intestine; coloncarcinoma; adenocarcinoma

c.2T>A; p.M1K;

pancreascarcinoma

c.725G>A; p.C242Y;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.860G>T; p.G287V;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.570G>T; p.M190I;

oesophaguscarcinoma; adenocarcinoma

c.378C>G; p.V126V;

oesophaguscarcinoma; adenocarcinoma

c.70A>G; p.R24G;

lungcarcinoma; non_small_cell_carcinoma

c.725G>A; p.C242Y;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.860G>T; p.G287V;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.2T>A; p.M1K;

pancreascarcinoma; ductal_carcinoma

c.565G>A; p.E189K;

lungcarcinoma; adenocarcinoma

c.871G>T; p.G291*;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndrome

c.1088A>G; p.N363S;

livercarcinoma

c.418+8A>G; p.?;

livercarcinoma

c.730-1G>T; p.?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.821G>A; p.R274Q;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.374+1G>T; p.?;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.882A>G; p.I294M;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.972A>G; p.L324L;

lungcarcinoma; adenocarcinoma

c.751C>A; p.Q251K;

lungcarcinoma; adenocarcinoma

c.393C>A; p.H131Q;

lungcarcinoma; adenocarcinoma

c.187G>T; p.G63C;

lungcarcinoma; squamous_cell_carcinoma

c.742G>T; p.G248C;

lungcarcinoma; squamous_cell_carcinoma

c.730-1G>C; p.?; 23:133376711-133376711

 ovarycarcinoma; serous_carcinoma

c.356C>A; p.P119H;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.786_787insT; p.D264fs*1;

endometriumcarcinoma; endometrioid_carcinoma

c.537C>T; p.T179T;

large_intestine; coloncarcinoma; adenocarcinoma

c.347G>A; p.R116Q;

breastcarcinoma

c.119C>T; p.A40V;

large_intestine; colonNS

c.415G>T; p.E139*;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.636_637insGGATA; p.F214fs*1;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.65_66insA; p.N23fs*2;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.586-1G>T; p.?;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.725G>A; p.C242Y;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.860G>T; p.G287V;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia

c.897G>T; p.K299N;

endometriumcarcinoma; endometrioid_carcinoma

c.954A>G; p.S318S;

endometriumcarcinoma; endometrioid_carcinoma

c.982A>T; p.N328Y;

breastcarcinoma

c.587G>A; p.R196K;

endometriumcarcinoma; endometrioid_carcinoma

c.5C>G; p.S2*;

endometriumcarcinoma; endometrioid_carcinoma

c.396G>T; p.K132N;

endometriumcarcinoma; endometrioid_carcinoma

c.202G>T; p.E68*;

urinary_tract; bladdercarcinoma

c.875G>C; p.C292S;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.567A>T; p.E189D;

endometriumcarcinoma; endometrioid_carcinoma

c.347G>A; p.R116Q;

endometriumcarcinoma; endometrioid_carcinoma

c.415G>A; p.E139K;

endometriumcarcinoma; endometrioid_carcinoma

c.256C>T; p.H86Y;

endometriumcarcinoma; endometrioid_carcinoma

c.790G>C; p.D264H;

urinary_tract; bladdercarcinoma

c.421G>A; p.D141N;

breastcarcinoma

c.137+2G>A; p.?;

urinary_tract; bladdercarcinoma

c.631A>G; p.K211E;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.346C>T; p.R116*;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.820C>T; p.R274*; 23:133376802-133376802

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.916G>T; p.G306*;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia

c.811G>A; p.E271K;

skin; scalpcarcinoma; squamous_cell_carcinoma

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