| Gene ID | 9260 |
| Symbol | PDLIM7 |
| Synonymous | LMP1|LMP3 |
| Full name | PDZ and LIM domain 7 (enigma) |
| Gene description | 1110003B01Rik|LIM domain protein|LMP|Lim mineralization protein 3|PDZ and LIM domain protein 7|protein enigma |
| Cytoband | 5q35.3 |
| Gene type | protein-coding |
| Synonymous | MIM:605903; HGNC:HGNC:22958; Ensembl:ENSG00000196923; HPRD:10436; Vega:OTTHUMG00000130853 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.872G>T; p.G291V; 5:177488246-177488246 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.901T>A; p.Y301N; 5:177488217-177488217 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1210G>C; p.D404H; 5:177483944-177483944 |
breast | carcinoma | Substitution - Missense |
c.428C>T; p.A143V; 5:177491117-177491117 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.524G>A; p.G175D; 5:177491021-177491021 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1233_1234CC>TT; p.R412C; 5:177483920-177483921 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.747G>A; p.P249P; 5:177489515-177489515 |
breast | carcinoma | Substitution - coding silent |
c.551A>C; p.E184A; 5:177490891-177490891 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1270A>T; p.T424S; 5:177483884-177483884 |
thyroid | other; neoplasm | Substitution - Missense |
c.546G>A; p.P182P; 5:177490896-177490896 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.816G>T; p.G272G; 5:177489446-177489446 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.818delG; p.G273fs*84; 5:177489444-177489444 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.816G>T; p.G272G; 5:177489446-177489446 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.818delG; p.G273fs*84; 5:177489444-177489444 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.536T>G; p.M179R; 5:177490906-177490906 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.36A>G; p.A12A; 5:177496477-177496477 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.403C>T; p.P135S; 5:177491142-177491142 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1084G>A; p.V362M; 5:177484157-177484157 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.909G>A; p.P303P; 5:177488209-177488209 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.267C>T; p.S89S; 5:177492417-177492417 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.264G>A; p.Q88Q; 5:177492420-177492420 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.502C>T; p.R168C; 5:177491043-177491043 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.502C>T; p.R168C; 5:177491043-177491043 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.381C>T; p.S127S; 5:177491824-177491824 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.127G>A; p.G43R; 5:177492647-177492647 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.708G>A; p.P236P; 5:177489554-177489554 |
breast | carcinoma | Substitution - coding silent |
c.572+2T>C; p.?; 5:177490868-177490868 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.708G>A; p.P236P; 5:177489554-177489554 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1006C>T; p.R336C; 5:177488112-177488112 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.648C>G; p.P216P; 5:177489614-177489614 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1286C>T; p.A429V; 5:177483868-177483868 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1278C>T; p.F426F; 5:177483876-177483876 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1342C>T; p.L448F; 5:177483676-177483676 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1040_1042delAGA; p.K347delK; 5:177488076-177488078 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Deletion - In frame |
c.1349A>G; p.K450R; 5:177483669-177483669 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1177G>C; p.E393Q; 5:177483977-177483977 |
breast | carcinoma | Substitution - Missense |
c.136G>A; p.V46M; 5:177492638-177492638 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.471G>A; p.P157P; 5:177491074-177491074 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.1007G>A; p.R336H; 5:177488111-177488111 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.81C>T; p.P27P; 5:177496432-177496432 |
breast | carcinoma | Substitution - coding silent |
c.1194G>A; p.T398T; 5:177483960-177483960 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1194G>A; p.T398T; 5:177483960-177483960 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1022_1023insCCCAGCT; p.A342fs*54; 5:177488095-177488096 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.984C>T; p.F328F; 5:177488134-177488134 |
skin | malignant_melanoma | Substitution - coding silent |
c.935G>T; p.G312V; 5:177488183-177488183 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1169G>A; p.R390Q; 5:177484072-177484072 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.976G>A; p.A326T; 5:177488142-177488142 |
thyroid | other; neoplasm | Substitution - Missense |
c.1001A>G; p.D334G; 5:177488117-177488117 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1264C>T; p.H422Y; 5:177483890-177483890 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1129A>C; p.R377R; 5:177484112-177484112 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1306G>C; p.E436Q; 5:177483712-177483712 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.266G>T; p.S89I; 5:177492418-177492418 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.662G>A; p.R221H; 5:177489600-177489600 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.24G>A; p.L8L; 5:177496489-177496489 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.596C>G; p.P199R; 5:177489809-177489809 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1166A>C; p.E389A; 5:177484075-177484075 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.898G>T; p.A300S; 5:177488220-177488220 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1050+3G>T; p.?; 5:177488065-177488065 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1224C>T; p.D408D; 5:177483930-177483930 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1368T>C; p.H456H; 5:177483650-177483650 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1152C>T; p.G384G; 5:177484089-177484089 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1152C>T; p.G384G; 5:177484089-177484089 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1271C>G; p.T424S; 5:177483883-177483883 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1359C>T; p.A453A; 5:177483659-177483659 |
pancreas | carcinoma | Substitution - coding silent |
c.1359C>T; p.A453A; 5:177483659-177483659 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1350G>C; p.K450N; 5:177483668-177483668 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1359C>T; p.A453A; 5:177483659-177483659 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1063G>A; p.A355T; 5:177484178-177484178 |
pancreas | carcinoma | Substitution - Missense |
c.159C>T; p.I53I; 5:177492615-177492615 |
thyroid | carcinoma | Substitution - coding silent |
c.1257C>T; p.F419F; 5:177483897-177483897 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |