| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 10278 |
Name | EFS |
Synonymous | embryonal Fyn-associated substrate;EFS;embryonal Fyn-associated substrate |
Definition | Cas scaffolding protein family member 3|signal transduction protein (SH3 containing) |
Position | 14q11.2 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1081A>G; p.M361V; 14:23359397-23359397 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.207C>T; p.G69G; 14:23360645-23360645 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.727G>A; p.G243R; 14:23359751-23359751 |
skin | malignant_melanoma | Substitution - Missense |
c.1504G>A; p.A502T; 14:23357408-23357408 |
skin | malignant_melanoma | Substitution - Missense |
c.134G>A; p.G45D; 14:23360718-23360718 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.1269G>A; p.G423G; 14:23357643-23357643 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.866C>T; p.P289L; 14:23359612-23359612 |
pancreas | carcinoma | Substitution - Missense |
c.284A>G; p.N95S; 14:23360568-23360568 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.127C>T; p.L43L; 14:23360725-23360725 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.769C>T; p.L257L; 14:23359709-23359709 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.1237A>G; p.M413V; 14:23358890-23358890 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1424A>G; p.K475R; 14:23357488-23357488 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.297+10G>A; p.?; 14:23360545-23360545 |
soft_tissue; blood_vessel | angiosarcoma | Unknown |
c.677C>T; p.A226V; 14:23359801-23359801 |
liver | carcinoma | Substitution - Missense |
c.677C>T; p.A226V; 14:23359801-23359801 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.677C>T; p.A226V; 14:23359801-23359801 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.677C>T; p.A226V; 14:23359801-23359801 |
liver | carcinoma | Substitution - Missense |
c.319G>T; p.A107S; 14:23360260-23360260 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1028G>T; p.R343L; 14:23359450-23359450 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.529G>A; p.A177T; 14:23359949-23359949 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1286C>A; p.S429Y; 14:23357626-23357626 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1083G>A; p.M361I; 14:23359395-23359395 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.708C>A; p.P236P; 14:23359770-23359770 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.80G>T; p.R27L; 14:23360772-23360772 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.708C>A; p.P236P; 14:23359770-23359770 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.390C>T; p.I130I; 14:23360189-23360189 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1147T>C; p.Y383H; 14:23359331-23359331 |
thyroid | carcinoma | Substitution - Missense |
c.1627A>T; p.T543S; 14:23357285-23357285 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1245G>A; p.A415A; 14:23358882-23358882 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1578C>T; p.A526A; 14:23357334-23357334 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.444C>T; p.Y148Y; 14:23360034-23360034 |
breast | carcinoma | Substitution - coding silent |
c.391C>T; p.P131S; 14:23360188-23360188 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.18+1G>T; p.?; 14:23365007-23365007 |
large_intestine; rectum | carcinoma; adenocarcinoma | Unknown |
c.1116C>T; p.Y372Y; 14:23359362-23359362 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.19A>G; p.T7A; 14:23360833-23360833 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1133C>A; p.A378D; 14:23359345-23359345 |
parathyroid | adenoma | Substitution - Missense |
c.1201G>A; p.A401T; 14:23358926-23358926 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1617G>A; p.V539V; 14:23357295-23357295 |
breast | carcinoma | Substitution - coding silent |
c.1251G>T; p.Q417H; 14:23358876-23358876 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1017A>C; p.P339P; 14:23359461-23359461 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1017A>C; p.P339P; 14:23359461-23359461 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1017A>C; p.P339P; 14:23359461-23359461 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1023A>C; p.P341P; 14:23359455-23359455 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1023A>C; p.P341P; 14:23359455-23359455 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1023A>C; p.P341P; 14:23359455-23359455 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1023A>C; p.P341P; 14:23359455-23359455 |
pancreas | carcinoma | Substitution - coding silent |
c.1023A>C; p.P341P; 14:23359455-23359455 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1023A>C; p.P341P; 14:23359455-23359455 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1402C>T; p.R468C; 14:23357510-23357510 |
prostate | carcinoma | Substitution - Missense |
c.1032G>A; p.L344L; 14:23359446-23359446 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.631G>A; p.E211K; 14:23359847-23359847 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1021C>A; p.P341T; 14:23359457-23359457 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.641C>T; p.P214L; 14:23359837-23359837 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.627C>T; p.G209G; 14:23359851-23359851 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1127C>T; p.P376L; 14:23359351-23359351 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1240C>T; p.P414S; 14:23358887-23358887 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.110G>T; p.R37I; 14:23360742-23360742 |
skin | malignant_melanoma | Substitution - Missense |
c.1386G>T; p.Q462H; 14:23357526-23357526 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.460G>A; p.A154T; 14:23360018-23360018 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.534G>A; p.P178P; 14:23359944-23359944 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1411G>A; p.V471M; 14:23357501-23357501 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.311C>T; p.P104L; 14:23360268-23360268 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.643C>A; p.P215T; 14:23359835-23359835 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1085A>G; p.E362G; 14:23359393-23359393 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1214A>G; p.D405G; 14:23358913-23358913 |
lung | carcinoid-endocrine_tumour; typical | Substitution - Missense |
c.1045G>T; p.G349C; 14:23359433-23359433 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.132C>T; p.D44D; 14:23360720-23360720 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.25C>T; p.L9L; 14:23360827-23360827 |
breast | carcinoma | Substitution - coding silent |
c.1083G>T; p.M361I; 14:23359395-23359395 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1254G>A; p.E418E; 14:23357658-23357658 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.586_587CC>TT; p.P196L; 14:23359891-23359892 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.353G>A; p.G118E; 14:23360226-23360226 |
skin | malignant_melanoma | Substitution - Missense |
c.523C>T; p.R175W; 14:23359955-23359955 |
thyroid | other; neoplasm | Substitution - Missense |
c.523C>T; p.R175W; 14:23359955-23359955 |
breast | carcinoma | Substitution - Missense |
c.523C>T; p.R175W; 14:23359955-23359955 |
breast | carcinoma | Substitution - Missense |
c.359G>T; p.C120F; 14:23360220-23360220 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1624G>T; p.V542L; 14:23357288-23357288 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1519G>T; p.A507S; 14:23357393-23357393 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.326C>T; p.P109L; 14:23360253-23360253 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1242G>A; p.P414P; 14:23358885-23358885 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1142A>G; p.Y381C; 14:23359336-23359336 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.445G>A; p.D149N; 14:23360033-23360033 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.289G>T; p.D97Y; 14:23360563-23360563 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.376C>A; p.L126I; 14:23360203-23360203 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.673C>T; p.R225*; 14:23359805-23359805 |
prostate | carcinoma | Substitution - Nonsense |
c.673C>T; p.R225*; 14:23359805-23359805 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.748G>A; p.E250K; 14:23359730-23359730 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.1547G>A; p.R516Q; 14:23357365-23357365 |
pancreas | other; adenoma | Substitution - Missense |
c.748G>A; p.E250K; 14:23359730-23359730 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.964C>T; p.P322S; 14:23359514-23359514 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.736G>T; p.G246W; 14:23359742-23359742 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1091A>C; p.D364A; 14:23359387-23359387 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1299G>A; p.L433L; 14:23357613-23357613 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1611G>T; p.E537D; 14:23357301-23357301 |
pancreas | carcinoma | Substitution - Missense |
c.860G>T; p.S287I; 14:23359618-23359618 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1028G>A; p.R343H; 14:23359450-23359450 |
skin | malignant_melanoma | Substitution - Missense |
c.1323G>A; p.G441G; 14:23357589-23357589 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1615G>T; p.V539L; 14:23357297-23357297 |
pancreas | carcinoma | Substitution - Missense |
c.1640G>T; p.G547V; 14:23357272-23357272 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.690C>G; p.L230L; 14:23359788-23359788 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1329C>T; p.C443C; 14:23357583-23357583 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.178G>A; p.A60T; 14:23360674-23360674 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.144C>T; p.L48L; 14:23360708-23360708 |
skin | malignant_melanoma | Substitution - coding silent |
c.1549G>T; p.A517S; 14:23357363-23357363 |
thyroid | carcinoma | Substitution - Missense |
c.520A>G; p.T174A; 14:23359958-23359958 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |