lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	10657
Symbol	KHDRBS1
Synonymous	Sam68\|p62\|p68
Full name	KH domain containing, RNA binding, signal transduction associated 1
Gene description	GAP-associated tyrosine phosphoprotein p62 (Sam68)\|KH domain-containing, RNA-binding, signal transduction-associated protein 1\|p21 Ras GTPase-activating protein-associated p62\|src-associated in mitosis 68 kDa protein
Cytoband	1p32
Gene type	protein-coding
Synonymous	MIM:602489; HGNC:HGNC:18116; Ensembl:ENSG00000121774; HPRD:03926; Vega:OTTHUMG00000003921

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.86C>T; p.S29L; 1:32014081-32014081	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.821T>G; p.L274W; 1:32036959-32036959	skin	malignant_melanoma	Substitution - Missense
c.529C>A; p.L177I; 1:32031545-32031545	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.929delG; p.A312fs*8; 1:32037858-32037858	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1266G>A; p.S422S; 1:32042558-32042558	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.65A>C; p.D22A; 1:32014060-32014060	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.207C>T; p.P69P; 1:32014202-32014202	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.901C>T; p.P301S; 1:32037039-32037039	skin	malignant_melanoma	Substitution - Missense
c.901C>T; p.P301S; 1:32037039-32037039	skin	malignant_melanoma	Substitution - Missense
c.822G>C; p.L274F; 1:32036960-32036960	urinary_tract; bladder	carcinoma	Substitution - Missense
c.483G>A; p.L161L; 1:32030398-32030398	breast	carcinoma	Substitution - coding silent
c.851G>A; p.R284H; 1:32036989-32036989	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.930G>A; p.R310R; 1:32037859-32037859	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.676G>A; p.D226N; 1:32033239-32033239	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1319A>G; p.Y440C; 1:32042611-32042611	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1272G>T; p.K424N; 1:32042564-32042564	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.552C>G; p.I184M; 1:32031568-32031568	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.481C>T; p.L161L; 1:32030396-32030396	skin	malignant_melanoma	Substitution - coding silent
c.1151A>G; p.E384G; 1:32038595-32038595	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1081C>A; p.P361T; 1:32038010-32038010	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1157A>G; p.Y386C; 1:32038601-32038601	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1106A>G; p.Y369C; 1:32038035-32038035	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.796G>C; p.E266Q; 1:32036934-32036934	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1325G>A; p.R442H; 1:32042617-32042617	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.756G>T; p.K252N; 1:32033319-32033319	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.741C>A; p.A247A; 1:32033304-32033304	thyroid	carcinoma	Substitution - coding silent
c.625-1G>A; p.?; 1:32033187-32033187	skin	malignant_melanoma	Unknown
c.1003delC; p.P336fs*4; 1:32037932-32037932	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.763C>T; p.L255L; 1:32033326-32033326	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.772-1G>A; p.?; 1:32036909-32036909	breast	carcinoma	Unknown
c.29G>A; p.R10H; 1:32014024-32014024	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1242C>T; p.D414D; 1:32042534-32042534	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.507+8delA; p.?; 1:32030430-32030430	stomach	adenocarcinoma	Unknown
c.991C>T; p.R331*; 1:32037920-32037920	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.664C>T; p.H222Y; 1:32033227-32033227	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.977G>T; p.G326V; 1:32037906-32037906	skin	malignant_melanoma	Substitution - Missense
c.1152A>G; p.E384E; 1:32038596-32038596	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1033C>G; p.P345A; 1:32037962-32037962	urinary_tract; bladder	carcinoma	Substitution - Missense
c.929G>A; p.R310Q; 1:32037858-32037858	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1107+1G>A; p.?; 1:32038037-32038037	pancreas	carcinoma	Unknown
c.1107+1G>A; p.?; 1:32038037-32038037	pancreas	carcinoma	Unknown
c.1150G>A; p.E384K; 1:32038594-32038594	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.740C>T; p.A247V; 1:32033303-32033303	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.758A>C; p.K253T; 1:32033321-32033321	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.758A>C; p.K253T; 1:32033321-32033321	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.512A>G; p.N171S; 1:32031528-32031528	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.1280C>T; p.P427L; 1:32042572-32042572	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.538C>A; p.Q180K; 1:32031554-32031554	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.424_426delGAG; p.E142delE; 1:32030339-32030341	breast	carcinoma	Deletion - In frame
c.1168A>T; p.S390C; 1:32038612-32038612	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1009C>T; p.P337S; 1:32037938-32037938	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.928_929insG; p.A312fs*56; 1:32037857-32037858	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.928_929insG; p.A312fs*56; 1:32037857-32037858	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1141G>A; p.E381K; 1:32038585-32038585	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.919G>T; p.G307*; 1:32037848-32037848	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.429G>T; p.E143D; 1:32030344-32030344	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1307G>C; p.R436T; 1:32042599-32042599	urinary_tract; bladder	carcinoma	Substitution - Missense
c.720T>A; p.A240A; 1:32033283-32033283	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - coding silent
c.912T>A; p.R304R; 1:32037841-32037841	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.934G>A; p.A312T; 1:32037863-32037863	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.568G>C; p.E190Q; 1:32031584-32031584	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.662C>T; p.A221V; 1:32033225-32033225	skin	malignant_melanoma	Substitution - Missense
c.248C>T; p.P83L; 1:32014243-32014243	pancreas	carcinoma	Substitution - Missense
c.1050G>A; p.A350A; 1:32037979-32037979	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1268T>C; p.L423P; 1:32042560-32042560	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.637C>T; p.R213C; 1:32033200-32033200	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1196A>G; p.Y399C; 1:32039535-32039535	liver	carcinoma	Substitution - Missense
c.775A>G; p.M259V; 1:32036913-32036913	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1220C>T; p.S407F; 1:32039559-32039559	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.127C>T; p.R43W; 1:32014122-32014122	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation