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

Basic Information

Gene ID

8406

Name

SRPX

Synonymous

sushi-repeat containing protein, X-linked;SRPX;sushi-repeat containing protein, X-linked

Definition

epididymis secretory sperm binding protein Li 83p|sushi repeat-containing protein SRPX|sushi-repeat-containing protein, X chromosome|sushi-repeat-containing protein, X-linked

Position

Xp21.1

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 0.23.

The copy number variations for various cancers

Top

There is no record for SRPX

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.68_70delTGC; p.L23delL; 23:38220723-38220725

 prostatecarcinomaDeletion - In frame

c.68_70delTGC; p.L23delL; 23:38220723-38220725

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaDeletion - In frame

c.68_70delTGC; p.L23delL; 23:38220723-38220725

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.68_70delTGC; p.L23delL; 23:38220723-38220725

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.68_70delTGC; p.L23delL; 23:38220723-38220725

 prostatecarcinomaDeletion - In frame

c.1256T>C; p.V419A; 23:38149850-38149850

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.110C>G; p.S37*; 23:38178332-38178332

 autonomic_ganglianeuroblastomaSubstitution - Nonsense

c.1149C>T; p.F383F; 23:38154524-38154524

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1385G>T; p.C462F; 23:38149721-38149721

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1305T>C; p.P435P; 23:38149801-38149801

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.918C>T; p.S306S; 23:38160054-38160054

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.872T>C; p.I291T; 23:38160100-38160100

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.509G>T; p.R170L; 23:38171898-38171898

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.58C>T; p.L20L; 23:38220735-38220735

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1369G>A; p.E457K; 23:38149737-38149737

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.900T>G; p.P300P; 23:38160072-38160072

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1369G>A; p.E457K; 23:38149737-38149737

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1259A>G; p.D420G; 23:38149847-38149847

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.580C>G; p.P194A; 23:38164842-38164842

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.700G>T; p.D234Y; 23:38161008-38161008

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.489C>A; p.D163E; 23:38171918-38171918

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.508C>T; p.R170W; 23:38171899-38171899

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.802C>T; p.P268S; 23:38160170-38160170

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.892G>T; p.G298C; 23:38160080-38160080

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.569G>A; p.R190H; 23:38164853-38164853

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.465_466GG>AA; p.E156K; 23:38171941-38171942

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.704A>T; p.H235L; 23:38161004-38161004

 oesophaguscarcinomaSubstitution - Missense

c.877G>A; p.G293S; 23:38160095-38160095

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1302G>A; p.M434I; 23:38149804-38149804

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.864C>A; p.F288L; 23:38160108-38160108

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.163C>A; p.P55T; 23:38174346-38174346

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.263G>A; p.R88H; 23:38174246-38174246

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.930G>A; p.W310*; 23:38160042-38160042

 large_intestine; colonNSSubstitution - Nonsense

c.428G>T; p.C143F; 23:38171979-38171979

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.983C>T; p.T328M; 23:38157002-38157002

 thyroidcarcinomaSubstitution - Missense

c.614C>T; p.T205I; 23:38164808-38164808

 breastcarcinomaSubstitution - Missense

c.79C>T; p.P27S; 23:38220714-38220714

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.79C>T; p.P27S; 23:38220714-38220714

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.569G>T; p.R190L; 23:38164853-38164853

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1052G>A; p.R351Q; 23:38156933-38156933

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1265A>G; p.H422R; 23:38149841-38149841

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.780A>G; p.K260K; 23:38160192-38160192

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.965T>A; p.V322D; 23:38157020-38157020

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.640G>T; p.G214*; 23:38164782-38164782

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.289G>T; p.G97C; 23:38174220-38174220

 prostateadenomaSubstitution - Missense

c.489C>G; p.D163E; 23:38171918-38171918

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.212C>T; p.A71V; 23:38174297-38174297

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.711C>T; p.I237I; 23:38160997-38160997

 skinmalignant_melanomaSubstitution - coding silent

c.296C>T; p.S99F; 23:38174213-38174213

 skinmalignant_melanomaSubstitution - Missense

c.245G>A; p.G82E; 23:38174264-38174264

 skinmalignant_melanomaSubstitution - Missense

c.1303C>T; p.P435S; 23:38149803-38149803

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.470G>A; p.R157Q; 23:38171937-38171937

 breastcarcinomaSubstitution - Missense

c.455C>A; p.T152K; 23:38171952-38171952

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1282C>T; p.R428C; 23:38149824-38149824

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.619G>A; p.E207K; 23:38164803-38164803

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.697G>A; p.G233R; 23:38161011-38161011

 skinmalignant_melanomaSubstitution - Missense

c.132C>T; p.V44V; 23:38178310-38178310

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.435T>C; p.Y145Y; 23:38171972-38171972

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.132C>T; p.V44V; 23:38178310-38178310

 skinmalignant_melanomaSubstitution - coding silent

c.878G>A; p.G293D; 23:38160094-38160094

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.582C>G; p.P194P; 23:38164840-38164840

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.769G>T; p.V257L; 23:38160939-38160939

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1089+1G>C; p.?; 23:38156895-38156895

 breastcarcinomaUnknown

c.612G>A; p.E204E; 23:38164810-38164810

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - coding silent

c.994C>G; p.L332V; 23:38156991-38156991

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.696A>T; p.E232D; 23:38161012-38161012

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.471G>A; p.R157R; 23:38171936-38171936

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.802C>A; p.P268T; 23:38160170-38160170

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.355C>T; p.R119*; 23:38172052-38172052

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.355C>T; p.R119*; 23:38172052-38172052

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.108C>T; p.D36D; 23:38178334-38178334

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.770_773delTAAG; p.V257fs*16; 23:38160935-38160938

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.68T>C; p.L23P; 23:38220725-38220725

 skinmalignant_melanomaSubstitution - Missense

c.677delC; p.P226fs*32; 23:38161031-38161031

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.677delC; p.P226fs*32; 23:38161031-38161031

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.255C>T; p.C85C; 23:38174254-38174254

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.936C>T; p.G312G; 23:38160036-38160036

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.391T>C; p.F131L; 23:38172016-38172016

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.157G>A; p.D53N; 23:38178285-38178285

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.157G>A; p.D53N; 23:38178285-38178285

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1222C>T; p.R408*; 23:38149884-38149884

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1222C>T; p.R408*; 23:38149884-38149884

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1206G>A; p.Q402Q; 23:38154467-38154467

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.123C>T; p.D41D; 23:38178319-38178319

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.552C>A; p.C184*; 23:38164870-38164870

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.793C>A; p.L265I; 23:38160179-38160179

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

')