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| General information | Expression | Regulation | Mutation | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 6597 |
Name | SMARCA4 |
Synonymous | BAF190|BRG1|RTPS2|SNF2|SNF2-BETA|SNF2L4|SNF2LB|SWI2|hSNF2b;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4;SMARCA4;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
Definition | ATP-dependent helicase SMARCA4|BAF190A|BRG1-associated factor 190A|BRM/SWI2-related gene 1|SNF2-like 4|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4|brahma protein-like 1|global transcription activator homol |
Position | 19p13.2 |
Gene Type | protein-coding |
Gene Mutation: | Substitution Insertion & Deletion Other Mutation |
Substitution | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Substitution - coding silent; c.1428C>A; 19:10966512-10966512 |
y; ovary | serous_carcinoma; carcinoma |
Substitution - coding silent; c.4113C>T; |
y; skin; arm | malignant_melanoma |
Substitution - coding silent; c.1839C>T; 19:10974731-10974731 |
y; ovary | serous_carcinoma; carcinoma |
Substitution - coding silent; c.3324C>T; 19:10999568-10999568 |
y; ovary | serous_carcinoma; carcinoma |
Indel | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Deletion - Frameshift; c.3480delG; 19:11002503-11002503 |
lung | non_small_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.3729_3730delGC; 19:11005148-11005149 |
lung | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.805delC; 19:10958625-10958625 |
lung | squamous_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.3476delG; 19:11002499-11002499 |
lung | large_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.2184_2206del23; 19:10982117-10982139 |
lung | carcinoma |
Deletion - Frameshift; c.2184_2206del23; 19:10982117-10982139 |
lung | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.3254_3270del17; 19:10999498-10999514 |
lung | adenocarcinoma; carcinoma |
Deletion - Frameshift; c.729delC; 19:10958238-10958238 |
pancreas | ductal_carcinoma; carcinoma |
Deletion - Frameshift; c.169delC; 19:10955996-10955996 |
lung | squamous_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.3254_3270del17; 19:10999498-10999514 |
lung | non_small_cell_carcinoma; carcinoma |
Deletion - Frameshift; c.805_806delCC; 19:10958625-10958626 |
lung | adenocarcinoma; carcinoma |
Other Mutation | | Top | |
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
Complex - compound substitutio; c.4698_4699GG>TT; 19:11031491-11031492 |
lung | non_small_cell_carcinoma; carcinoma |
Complex - compound substitutio; c.4698_4699GG>TT; 19:11031491-11031492 |
lung | adenocarcinoma; carcinoma |