Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

55544

Name

RBM38

Synonymous

RNA binding motif protein 38;RBM38;RNA binding motif protein 38

Definition

CLL-associated antigen KW-5|RNA-binding protein 38|RNA-binding region (RNP1, RRM) containing 1|RNA-binding region-containing protein 1|ssDNA-binding protein SEB4

Position

20q13.31

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

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We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.00.

The copy number variations for various cancers

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The copy number variations in 17 major cancer groups: 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; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

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.577G>A; p.A193T; 20:57407703-57407703

 pancreascarcinomaSubstitution - Missense

c.441A>C; p.P147P; 20:57407567-57407567

 thyroidother; neoplasmSubstitution - coding silent

c.249C>T; p.A83A; 20:57392665-57392665

 large_intestine; caecumadenomaSubstitution - coding silent

c.325G>A; p.A109T; 20:57392741-57392741

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.234C>T; p.G78G; 20:57391815-57391815

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.450C>T; p.I150I; 20:57407576-57407576

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.291C>T; p.P97P; 20:57392707-57392707

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.55G>C; p.A19P; 20:57391636-57391636

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.55G>C; p.A19P; 20:57391636-57391636

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.579C>T; p.A193A; 20:57407705-57407705

 skinmalignant_melanomaSubstitution - coding silent

c.266A>G; p.E89G; 20:57392682-57392682

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.265G>A; p.E89K; 20:57392681-57392681

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.527G>A; p.S176N; 20:57407653-57407653

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.552G>A; p.P184P; 20:57407678-57407678

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.415G>A; p.G139R; 20:57393332-57393332

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.347G>A; p.R116Q; 20:57392763-57392763

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.515A>G; p.Y172C; 20:57407641-57407641

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.675C>T; p.F225F; 20:57407801-57407801

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.43_44CC>TT; p.P15L; 20:57391624-57391625

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.359C>T; p.T120M; 20:57392775-57392775

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.290C>T; p.P97L; 20:57392706-57392706

 skin; extremitymalignant_melanomaSubstitution - Missense

c.346C>T; p.R116W; 20:57392762-57392762

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.521C>T; p.P174L; 20:57407647-57407647

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.56_57insC; p.A20fs*70; 20:57391637-57391638

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.56_57insC; p.A20fs*70; 20:57391637-57391638

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.478G>A; p.A160T; 20:57407604-57407604

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.659C>T; p.P220L; 20:57407785-57407785

 skinmalignant_melanomaSubstitution - Missense

c.487C>T; p.P163S; 20:57407613-57407613

 skinmalignant_melanomaSubstitution - Missense

c.448A>G; p.I150V; 20:57407574-57407574

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.530C>T; p.P177L; 20:57407656-57407656

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.530C>T; p.P177L; 20:57407656-57407656

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.336C>T; p.G112G; 20:57392752-57392752

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.163G>C; p.E55Q; 20:57391744-57391744

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.146C>G; p.S49W; 20:57391727-57391727

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.392C>G; p.P131R; 20:57393309-57393309

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.628G>A; p.A210T; 20:57407754-57407754

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.395C>G; p.T132S; 20:57393312-57393312

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.502C>T; p.P168S; 20:57407628-57407628

 skinmalignant_melanomaSubstitution - Missense

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