| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 310 |
Name | ANXA7 |
Synonymous | annexin A7;ANXA7;annexin A7 |
Definition | annexin VII|annexin-7 |
Position | 10q22.2 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
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Loss of Function mutations compare to missense mutations | Top |
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| The ratio of the loss-of-function mutations over missense mutations is 0.05. |
The copy number variations for various cancers | Top |
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The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
|
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
|---|---|---|---|
c.335C>T; p.S112F; 10:73397199-73397199 |
oesophagus | carcinoma | Substitution - Missense |
c.335C>T; p.S112F; 10:73397199-73397199 |
breast | carcinoma | Substitution - Missense |
c.1337G>A; p.R446Q; 10:73378918-73378918 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1337G>A; p.R446Q; 10:73378918-73378918 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1421C>T; p.T474M; 10:73376141-73376141 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1077C>T; p.T359T; 10:73380109-73380109 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1077C>T; p.T359T; 10:73380109-73380109 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.231G>T; p.Q77H; 10:73398209-73398209 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.231G>T; p.Q77H; 10:73398209-73398209 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1199C>T; p.S400F; 10:73379911-73379911 |
breast | carcinoma | Substitution - Missense |
c.1389G>A; p.Q463Q; 10:73376173-73376173 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.231G>C; p.Q77H; 10:73398209-73398209 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.26C>A; p.T9K; 10:73400831-73400831 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.346G>T; p.G116C; 10:73397188-73397188 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.596A>G; p.K199R; 10:73388320-73388320 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.556G>A; p.D186N; 10:73388360-73388360 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1189C>T; p.R397C; 10:73379921-73379921 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.583C>T; p.R195C; 10:73388333-73388333 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.53C>T; p.P18L; 10:73400804-73400804 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1332C>T; p.V444V; 10:73378923-73378923 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.650A>G; p.N217S; 10:73387738-73387738 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.775A>G; p.T259A; 10:73383615-73383615 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.149C>T; p.P50L; 10:73398291-73398291 |
skin | malignant_melanoma | Substitution - Missense |
c.149C>T; p.P50L; 10:73398291-73398291 |
skin | malignant_melanoma | Substitution - Missense |
c.84T>G; p.P28P; 10:73398356-73398356 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.832C>T; p.R278C; 10:73383327-73383327 |
pancreas | carcinoma | Substitution - Missense |
c.1051C>G; p.Q351E; 10:73380135-73380135 |
ovary | other; neoplasm | Substitution - Missense |
c.961C>T; p.R321C; 10:73383198-73383198 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.992G>A; p.R331H; 10:73380194-73380194 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.800G>A; p.R267Q; 10:73383590-73383590 |
pancreas | carcinoma | Substitution - Missense |
c.643C>T; p.R215C; 10:73387745-73387745 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.643C>T; p.R215C; 10:73387745-73387745 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.643C>T; p.R215C; 10:73387745-73387745 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.643C>T; p.R215C; 10:73387745-73387745 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1075A>T; p.T359S; 10:73380111-73380111 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.700-4A>G; p.?; 10:73383694-73383694 |
liver | carcinoma | Unknown |
c.700-4A>G; p.?; 10:73383694-73383694 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.622A>G; p.I208V; 10:73387766-73387766 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.584G>A; p.R195H; 10:73388332-73388332 |
prostate | carcinoma | Substitution - Missense |
c.370+2T>A; p.?; 10:73397162-73397162 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.728delT; p.L243fs*1; 10:73383662-73383662 |
skin | malignant_melanoma | Deletion - Frameshift |
c.668T>G; p.I223S; 10:73387720-73387720 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.913C>T; p.R305*; 10:73383246-73383246 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.55-8T>G; p.?; 10:73398393-73398393 |
liver | carcinoma | Unknown |
c.783C>T; p.Y261Y; 10:73383607-73383607 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1375G>A; p.A459T; 10:73376187-73376187 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1375G>A; p.A459T; 10:73376187-73376187 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.538C>T; p.R180*; 10:73388378-73388378 |
stomach | adenocarcinoma | Substitution - Nonsense |
c.991C>T; p.R331C; 10:73380195-73380195 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1201G>A; p.G401R; 10:73379909-73379909 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.605-1G>C; p.?; 10:73387784-73387784 |
upper_aerodigestive_tract; mouth | carcinoma | Unknown |
c.605-1G>C; p.?; 10:73387784-73387784 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Unknown |
c.333G>T; p.Q111H; 10:73397201-73397201 |
breast | carcinoma | Substitution - Missense |
c.213C>T; p.G71G; 10:73398227-73398227 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.266C>T; p.P89L; 10:73397268-73397268 |
skin | malignant_melanoma | Substitution - Missense |
c.657G>A; p.Q219Q; 10:73387731-73387731 |
breast | carcinoma | Substitution - coding silent |
c.644G>A; p.R215H; 10:73387744-73387744 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.558T>C; p.D186D; 10:73388358-73388358 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.558T>C; p.D186D; 10:73388358-73388358 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1141G>A; p.E381K; 10:73380045-73380045 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.63T>C; p.G21G; 10:73398377-73398377 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.311G>A; p.G104E; 10:73397223-73397223 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.412G>A; p.G138R; 10:73396542-73396542 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1392G>A; p.K464K; 10:73376170-73376170 |
skin | malignant_melanoma | Substitution - coding silent |
c.32A>T; p.Y11F; 10:73400825-73400825 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.922G>C; p.E308Q; 10:73383237-73383237 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.398C>G; p.S133C; 10:73396556-73396556 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.407C>G; p.P136R; 10:73396547-73396547 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.876C>T; p.I292I; 10:73383283-73383283 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.876C>T; p.I292I; 10:73383283-73383283 |
skin | malignant_melanoma | Substitution - coding silent |
c.391_417del27; p.M131_Q139delMPSQYPGGQ; 10:73396537-73396563 |
lung | carcinoma; adenocarcinoma | Deletion - In frame |
c.1165C>T; p.R389*; 10:73379945-73379945 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1190G>A; p.R397H; 10:73379920-73379920 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.552C>G; p.N184K; 10:73388364-73388364 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1033G>C; p.D345H; 10:73380153-73380153 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1249C>T; p.R417C; 10:73379006-73379006 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.742G>A; p.E248K; 10:73383648-73383648 |
liver | carcinoma | Substitution - Missense |
c.637G>A; p.A213T; 10:73387751-73387751 |
breast | carcinoma | Substitution - Missense |
c.482C>T; p.S161F; 10:73396063-73396063 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1257C>T; p.A419A; 10:73378998-73378998 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.435G>T; p.Q145H; 10:73396519-73396519 |
thyroid | carcinoma | Substitution - Missense |
c.777G>A; p.T259T; 10:73383613-73383613 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.330A>G; p.S110S; 10:73397204-73397204 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.19C>T; p.P7S; 10:73400838-73400838 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |