Entrez Gene

Basic Information
Gene ID	87178
Name	PNPT1
Synonymous	polyribonucleotide nucleotidyltransferase 1;PNPT1;polyribonucleotide nucleotidyltransferase 1
Definition	3'-5' RNA exonuclease OLD35\|PNPase 1\|PNPase old-35\|polynucleotide phosphorylase 1\|polynucleotide phosphorylase-like protein\|polyribonucleotide nucleotidyltransferase 1, mitochondrial
Position	2p15
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1632C>G; p.D544E; 2:55646457-55646457	prostate	adenoma	Substitution - Missense
c.26C>T; p.S9L; 2:55693798-55693798	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1667C>T; p.A556V; 2:55646422-55646422	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1237A>T; p.T413S; 2:55661966-55661966	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1859T>G; p.F620C; 2:55644684-55644684	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1285-4delT; p.?; 2:55656375-55656375	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1285-4delT; p.?; 2:55656375-55656375	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.2014-2A>T; p.?; 2:55643215-55643215	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1175A>T; p.Q392L; 2:55666992-55666992	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1100T>A; p.L367H; 2:55667067-55667067	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.9C>T; p.A3A; 2:55693815-55693815	pancreas	carcinoma	Substitution - coding silent
c.575G>A; p.R192Q; 2:55679786-55679786	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1602G>C; p.L534F; 2:55647347-55647347	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.235G>A; p.A79T; 2:55686432-55686432	breast	carcinoma	Substitution - Missense
c.1288C>T; p.P430S; 2:55656368-55656368	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2159C>T; p.P720L; 2:55637589-55637589	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1937C>T; p.T646M; 2:55643395-55643395	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1432G>C; p.E478Q; 2:55656140-55656140	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.906C>T; p.Y302Y; 2:55672007-55672007	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.818C>A; p.P273H; 2:55672941-55672941	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1558G>C; p.E520Q; 2:55647391-55647391	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.2246G>A; p.R749Q; 2:55636343-55636343	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1558G>C; p.E520Q; 2:55647391-55647391	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2246G>A; p.R749Q; 2:55636343-55636343	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1019T>A; p.F340Y; 2:55667916-55667916	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.769C>A; p.Q257K; 2:55672990-55672990	urinary_tract; bladder	carcinoma	Substitution - Missense
c.503T>C; p.L168P; 2:55680869-55680869	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.959C>T; p.T320M; 2:55671336-55671336	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.122G>C; p.S41T; 2:55693702-55693702	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.2256T>C; p.L752L; 2:55636333-55636333	liver	carcinoma	Substitution - coding silent
c.1558G>T; p.E520*; 2:55647391-55647391	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2256T>C; p.L752L; 2:55636333-55636333	liver	carcinoma	Substitution - coding silent
c.874A>G; p.M292V; 2:55672039-55672039	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.584T>A; p.I195K; 2:55679777-55679777	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1525G>C; p.V509L; 2:55647424-55647424	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.975A>G; p.K325K; 2:55671320-55671320	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.11G>T; p.C4F; 2:55693813-55693813	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1097C>T; p.S366L; 2:55667070-55667070	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.558A>G; p.G186G; 2:55680719-55680719	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.403G>T; p.D135Y; 2:55684943-55684943	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1718A>G; p.E573G; 2:55646279-55646279	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2297G>C; p.R766T; 2:55636292-55636292	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1810G>T; p.G604*; 2:55645361-55645361	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1789C>T; p.R597*; 2:55645382-55645382	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.16T>G; p.Y6D; 2:55693808-55693808	breast	carcinoma	Substitution - Missense
c.1695A>G; p.G565G; 2:55646302-55646302	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1193C>T; p.T398I; 2:55662010-55662010	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.1923G>A; p.Q641Q; 2:55643409-55643409	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.728A>G; p.H243R; 2:55673031-55673031	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1574A>C; p.E525A; 2:55647375-55647375	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.656C>G; p.A219G; 2:55679705-55679705	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1837C>T; p.P613S; 2:55644706-55644706	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.993C>G; p.A331A; 2:55667942-55667942	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.675G>C; p.Q225H; 2:55679686-55679686	breast	carcinoma	Substitution - Missense
c.745G>A; p.V249M; 2:55673014-55673014	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1822+2T>G; p.?; 2:55645347-55645347	liver	carcinoma	Unknown
c.1386T>G; p.I462M; 2:55656186-55656186	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1321A>G; p.T441A; 2:55656335-55656335	liver	carcinoma	Substitution - Missense
c.1495+1G>A; p.?; 2:55654899-55654899	urinary_tract; bladder	carcinoma	Unknown
c.1321A>G; p.T441A; 2:55656335-55656335	liver	carcinoma	Substitution - Missense
c.2169A>G; p.L723L; 2:55637579-55637579	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1945G>A; p.V649I; 2:55643387-55643387	breast	carcinoma	Substitution - Missense
c.1269C>T; p.F423F; 2:55660172-55660172	skin	malignant_melanoma	Substitution - coding silent
c.2144G>A; p.R715Q; 2:55640631-55640631	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1036G>T; p.E346*; 2:55667899-55667899	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.34C>T; p.R12W; 2:55693790-55693790	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.269C>A; p.P90H; 2:55686398-55686398	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1583G>A; p.R528H; 2:55647366-55647366	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.629C>A; p.S210Y; 2:55679732-55679732	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.839C>T; p.S280L; 2:55672920-55672920	breast	carcinoma	Substitution - Missense
c.839C>T; p.S280L; 2:55672920-55672920	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2241T>G; p.L747L; 2:55636348-55636348	liver	carcinoma	Substitution - coding silent
c.492G>A; p.E164E; 2:55680880-55680880	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2241T>G; p.L747L; 2:55636348-55636348	liver	carcinoma	Substitution - coding silent
c.702G>T; p.E234D; 2:55673057-55673057	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.138T>G; p.A46A; 2:55693686-55693686	liver	carcinoma	Substitution - coding silent
c.998C>T; p.P333L; 2:55667937-55667937	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.887A>G; p.Y296C; 2:55672026-55672026	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1890delA; p.K630fs*8; 2:55644653-55644653	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.67C>T; p.L23L; 2:55693757-55693757	skin	malignant_melanoma	Substitution - coding silent
c.1756T>C; p.L586L; 2:55645415-55645415	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.773G>A; p.G258D; 2:55672986-55672986	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.999A>G; p.P333P; 2:55667936-55667936	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1285-6_1285-4delTTT; p.?; 2:55656375-55656377	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.1807A>C; p.N603H; 2:55645364-55645364	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1738+9G>C; p.?; 2:55646250-55646250	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1738+9G>C; p.?; 2:55646250-55646250	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1562A>G; p.K521R; 2:55647387-55647387	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1952C>T; p.A651V; 2:55643380-55643380	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2077G>T; p.G693C; 2:55640698-55640698	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.71C>A; p.P24Q; 2:55693753-55693753	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.109G>T; p.A37S; 2:55693715-55693715	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1117G>T; p.E373*; 2:55667050-55667050	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1148C>T; p.S383L; 2:55667019-55667019	breast	carcinoma	Substitution - Missense
c.147G>C; p.V49V; 2:55693677-55693677	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.985C>T; p.P329S; 2:55667950-55667950	skin; extremity	malignant_melanoma	Substitution - Missense
c.1451C>G; p.S484C; 2:55654944-55654944	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2216A>C; p.D739A; 2:55636373-55636373	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2112G>A; p.A704A; 2:55640663-55640663	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1555C>A; p.P519T; 2:55647394-55647394	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1674+1G>T; p.?; 2:55646414-55646414	lung; right_lower_lobe	carcinoma; adenocarcinoma	Unknown
c.574C>T; p.R192*; 2:55679787-55679787	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.388A>G; p.T130A; 2:55684958-55684958	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1595A>C; p.D532A; 2:55647354-55647354	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.388A>G; p.T130A; 2:55684958-55684958	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1699C>T; p.P567S; 2:55646298-55646298	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1343T>G; p.L448R; 2:55656313-55656313	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1660A>G; p.I554V; 2:55646429-55646429	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.349C>G; p.L117V; 2:55684997-55684997	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.697G>A; p.A233T; 2:55673062-55673062	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.454-1G>T; p.?; 2:55680919-55680919	stomach	carcinoma; adenocarcinoma	Unknown
c.337C>T; p.P113S; 2:55685009-55685009	skin	malignant_melanoma	Substitution - Missense
c.1001A>G; p.Y334C; 2:55667934-55667934	liver	carcinoma	Substitution - Missense
c.1001A>G; p.Y334C; 2:55667934-55667934	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1396T>G; p.F466V; 2:55656176-55656176	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1138C>G; p.L380V; 2:55667029-55667029	skin	malignant_melanoma	Substitution - Missense
c.793G>T; p.E265*; 2:55672966-55672966	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.793G>T; p.E265*; 2:55672966-55672966	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.793G>T; p.E265*; 2:55672966-55672966	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.395G>C; p.R132P; 2:55684951-55684951	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1625A>C; p.D542A; 2:55646464-55646464	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]