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

Basic Information

Gene ID

2273

Name

FHL1

Synonymous

four and a half LIM domains 1;FHL1;four and a half LIM domains 1

Definition

LIM protein SLIMMER|four and a half LIM domains protein 1|four-and-a-half Lin11, Isl-1 and Mec-3 domains 1|skeletal muscle LIM-protein 1

Position

Xq26

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

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

Top

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

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.03.

The copy number variations for various cancers

Top

There is no record for FHL1

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.613G>C; p.D205H; 23:136208566-136208566

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.148G>A; p.D50N; 23:136206580-136206580

 skinmalignant_melanomaSubstitution - Missense

c.730T>C; p.S244P; 23:136209912-136209912

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.730T>C; p.S244P; 23:136209912-136209912

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.341A>T; p.N114I; 23:136207801-136207801

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.564T>C; p.C188C; 23:136208517-136208517

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.65A>G; p.K22R; 23:136206497-136206497

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.570C>A; p.T190T; 23:136208523-136208523

 skinmalignant_melanomaSubstitution - coding silent

c.112A>T; p.N38Y; 23:136206544-136206544

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.444C>A; p.F148L; 23:136207904-136207904

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.222C>A; p.P74P; 23:136207081-136207081

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.467C>T; p.T156I; 23:136207927-136207927

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.453G>T; p.V151V; 23:136207913-136207913

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.549C>T; p.A183A; 23:136208502-136208502

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.32G>T; p.R11M; 23:136206464-136206464

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.675G>T; p.K225N; 23:136208628-136208628

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.563G>A; p.C188Y; 23:136208516-136208516

 large_intestine; coloncarcinomaSubstitution - Missense

c.563G>A; p.C188Y; 23:136208516-136208516

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.503C>G; p.A168G; 23:136208456-136208456

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.165C>G; p.H55Q; 23:136207024-136207024

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.165C>G; p.H55Q; 23:136207024-136207024

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.837G>T; p.K279N; 23:136210019-136210019

 pancreascarcinomaSubstitution - Missense

c.837G>T; p.K279N; 23:136210019-136210019

 pancreascarcinomaSubstitution - Missense

c.515G>C; p.G172A; 23:136208468-136208468

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.765C>T; p.C255C; 23:136209947-136209947

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.568A>G; p.T190A; 23:136208521-136208521

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.142G>T; p.G48C; 23:136206574-136206574

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.199C>T; p.R67C; 23:136207058-136207058

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.307G>A; p.G103R; 23:136207166-136207166

 skinmalignant_melanomaSubstitution - Missense

c.97G>C; p.D33H; 23:136206529-136206529

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.232G>C; p.E78Q; 23:136207091-136207091

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.227C>T; p.A76V; 23:136207086-136207086

 bonechondrosarcomaSubstitution - Missense

c.353A>T; p.K118M; 23:136207813-136207813

 skinmalignant_melanomaSubstitution - Missense

c.141C>T; p.I47I; 23:136206573-136206573

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.141C>T; p.I47I; 23:136206573-136206573

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.400C>A; p.Q134K; 23:136207860-136207860

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.502-1G>A; p.?; 23:136208454-136208454

 soft_tissue; striated_musclerhabdomyosarcoma; embryonalUnknown

c.502-1G>A; p.?; 23:136208454-136208454

 soft_tissue; striated_musclerhabdomyosarcomaUnknown

c.689-8delC; p.?; 23:136209863-136209863

 stomachcarcinoma; diffuse_adenocarcinomaUnknown

c.234G>T; p.E78D; 23:136207093-136207093

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.384C>A; p.T128T; 23:136207844-136207844

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.130C>T; p.R44C; 23:136206562-136206562

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.147G>A; p.A49A; 23:136206579-136206579

 breastcarcinomaSubstitution - coding silent

c.708T>C; p.S236S; 23:136209890-136209890

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.518G>A; p.G173E; 23:136208471-136208471

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.361G>A; p.V121I; 23:136207821-136207821

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.359C>T; p.T120I; 23:136207819-136207819

 skinmalignant_melanomaSubstitution - Missense

c.441C>A; p.D147E; 23:136207901-136207901

 breastcarcinomaSubstitution - Missense

c.156+1G>A; p.?; 23:136206589-136206589

 skinmalignant_melanomaUnknown

c.293C>A; p.S98Y; 23:136207152-136207152

 ovaryother; neoplasmSubstitution - Missense

c.569C>A; p.T190N; 23:136208522-136208522

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.468C>T; p.T156T; 23:136207928-136207928

 skinmalignant_melanomaSubstitution - coding silent

c.468C>T; p.T156T; 23:136207928-136207928

 skinmalignant_melanomaSubstitution - coding silent

c.543G>A; p.W181*; 23:136208496-136208496

 bone; ribEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Nonsense

c.6G>A; p.A2A; 23:136206438-136206438

 skinmalignant_melanomaSubstitution - coding silent

c.503_504insCAT; p.I169_T170insI; 23:136208456-136208457

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - In frame

c.6G>A; p.A2A; 23:136206438-136206438

 skinmalignant_melanomaSubstitution - coding silent

c.6G>A; p.A2A; 23:136206438-136206438

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.719A>G; p.Y240C; 23:136209901-136209901

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.156+5C>T; p.?; 23:136206593-136206593

 livercarcinomaUnknown

c.400C>T; p.Q134*; 23:136207860-136207860

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.156+5C>T; p.?; 23:136206593-136206593

 livercarcinomaUnknown

c.628G>A; p.V210M; 23:136208581-136208581

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.332-3C>T; p.?; 23:136207789-136207789

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.715G>T; p.A239S; 23:136209897-136209897

 prostatecarcinomaSubstitution - Missense

c.451G>A; p.V151M; 23:136207911-136207911

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3G>A; p.M1I; 23:136206435-136206435

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.451G>A; p.V151M; 23:136207911-136207911

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.142G>A; p.G48S; 23:136206574-136206574

 haematopoietic_and_lymphoid_tissue; tonsillymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.5C>T; p.A2V; 23:136206437-136206437

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.93C>T; p.C31C; 23:136206525-136206525

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.550G>A; p.D184N; 23:136208503-136208503

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.757delA; p.K254fs*4; 23:136209939-136209939

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.550G>A; p.D184N; 23:136208503-136208503

 breastcarcinomaSubstitution - Missense

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