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

Basic Information

Gene ID

26257

Name

NKX2-8

Synonymous

NK2 homeobox 8;NKX2-8;NK2 homeobox 8

Definition

NK-2 homolog 8|NK-2 homolog H|NK2 transcription factor related, locus 8|homeobox protein NK-2 homolog H|homeobox protein Nkx-2.8

Position

14q13.3

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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There is no record for NKX2-8

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.396C>T; p.F132F; 14:36581226-36581226

 livercarcinomaSubstitution - coding silent

c.396C>T; p.F132F; 14:36581226-36581226

 livercarcinomaSubstitution - coding silent

c.34C>T; p.R12C; 14:36582356-36582356

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.34C>T; p.R12C; 14:36582356-36582356

 livercarcinomaSubstitution - Missense

c.34C>T; p.R12C; 14:36582356-36582356

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.612C>T; p.A204A; 14:36581010-36581010

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.148C>T; p.H50Y; 14:36582242-36582242

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.123C>T; p.A41A; 14:36582267-36582267

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.74T>G; p.L25R; 14:36582316-36582316

 thyroidother; neoplasmSubstitution - Missense

c.697G>A; p.A233T; 14:36580925-36580925

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.65C>T; p.A22V; 14:36582325-36582325

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.260G>A; p.R87Q; 14:36581362-36581362

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.696_697insC; p.A233fs*>8; 14:36580925-36580926

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.205C>T; p.R69W; 14:36581417-36581417

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.43C>T; p.L15L; 14:36582347-36582347

 skinmalignant_melanomaSubstitution - coding silent

c.106delC; p.Q36fs*104; 14:36582284-36582284

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.16C>T; p.R6C; 14:36582374-36582374

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.66G>A; p.A22A; 14:36582324-36582324

 central_nervous_system; braingliomaSubstitution - coding silent

c.35G>A; p.R12H; 14:36582355-36582355

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.35G>A; p.R12H; 14:36582355-36582355

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.189G>A; p.P63P; 14:36581433-36581433

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.146G>A; p.G49D; 14:36582244-36582244

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.91G>C; p.E31Q; 14:36582299-36582299

 pancreascarcinomaSubstitution - Missense

c.111C>T; p.P37P; 14:36582279-36582279

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.416T>C; p.L139P; 14:36581206-36581206

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.384C>G; p.V128V; 14:36581238-36581238

 pancreascarcinomaSubstitution - coding silent

c.335C>T; p.P112L; 14:36581287-36581287

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.266T>G; p.V89G; 14:36581356-36581356

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.266T>G; p.V89G; 14:36581356-36581356

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.266T>G; p.V89G; 14:36581356-36581356

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.266T>G; p.V89G; 14:36581356-36581356

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.266T>G; p.V89G; 14:36581356-36581356

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.266T>G; p.V89G; 14:36581356-36581356

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.266T>G; p.V89G; 14:36581356-36581356

 livercarcinomaSubstitution - Missense

c.266T>G; p.V89G; 14:36581356-36581356

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.266T>G; p.V89G; 14:36581356-36581356

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.266T>G; p.V89G; 14:36581356-36581356

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.266T>G; p.V89G; 14:36581356-36581356

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.266T>G; p.V89G; 14:36581356-36581356

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.130C>T; p.L44L; 14:36582260-36582260

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.266T>G; p.V89G; 14:36581356-36581356

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.266T>G; p.V89G; 14:36581356-36581356

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.356G>T; p.S119I; 14:36581266-36581266

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.356G>T; p.S119I; 14:36581266-36581266

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.356G>T; p.S119I; 14:36581266-36581266

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.356G>T; p.S119I; 14:36581266-36581266

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.356G>T; p.S119I; 14:36581266-36581266

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.356G>T; p.S119I; 14:36581266-36581266

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.356G>T; p.S119I; 14:36581266-36581266

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.356G>T; p.S119I; 14:36581266-36581266

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.100G>A; p.A34T; 14:36582290-36582290

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.624G>A; p.L208L; 14:36580998-36580998

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.404A>T; p.H135L; 14:36581218-36581218

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.209C>T; p.P70L; 14:36581413-36581413

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.427C>T; p.R143C; 14:36581195-36581195

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.157+2T>G; p.?; 14:36582231-36582231

 urinary_tract; bladdercarcinomaUnknown

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