Side Menu

KDM6A

Basic information

Official gene symbol
lysine demethylase 6A
Conventional gene symbol
KABUK2, UTX, bA386N14.2
Classification
Oncogene / Tumor suppressor gene
Official gene ID
7403(Refseq)
7403 (KEGG)
Transcript ID
NM_021140
Functional classification
Epigenetic regulation
Signaling pathway
Epigenetic modification
Chromosomal location
Xp11.3 (chrX:44732798..44970656)
Protein length
1,401

Chromosome ideogram

Frequency of somatic alterationsTumor type

Base substitutions, insertions, and deletions

Copy number alterations

Distribution of tumor mutation burdenTMB

List of driver somatic mutations

Genomic Coordinates (GRCh37/hg19) Reference Variant Exon Amino Acid change Coding DNA change COSMIC (v92) Classification No. of Samples
chrX:44833924 C G 4 / 29 p.Y116* c.348C>G   Tier2 1 / 117
chrX:44870264 G A 5 / 29 p.W148* c.443G>A   Tier2 1 / 117
chrX:44879904 C T 6 / 29 p.R165* c.493C>T COSV65037080 Tier2 1 / 117
chrX:44896918 ACT A 8 / 29 p.L214fs c.639_640delCT   Tier2 1 / 117
chrX:44910995 GCAGA G 9 / 29 p.T234fs c.701_704delCAGA   Tier2 1 / 117
chrX:44918502 C T 12 / 29 p.Q329* c.985C>T COSV65045178 Tier2 1 / 117
chrX:44918595 ACT A 12 / 29 p.Y362fs c.1083_1084delCT COSV65040281 Tier2 1 / 117
chrX:44919375 C T 13 / 29 p.Q435* c.1303C>T   Tier2 1 / 117
chrX:44922694 CG C 16 / 29 p.R519fs c.1556delG COSV65039445 Tier2 1 / 117
chrX:44922760 C T 16 / 29 p.Q541* c.1621C>T COSV65038659 Tier2 1 / 117
chrX:44922952 G GGAAAC 16 / 29 p.V607fs c.1815_1819dupAAACG   Tier2 1 / 117
chrX:44923035 G A 16 / 29 p.W632* c.1896G>A COSV65037694 Tier2 1 / 117
chrX:44923042 C T 16 / 29 p.Q635* c.1903C>T   Tier2 1 / 117
chrX:44928869 G T 17 / 29 p.E657* c.1969G>T COSV65041414 Tier2 1 / 117
chrX:44928872 C T 17 / 29 p.R658* c.1972C>T COSV65038721 Tier2 2 / 117
chrX:44928875 CCT C 17 / 29 p.S661fs c.1982_1983delCT COSV100937867 Tier2 1 / 117
chrX:44929133 G T 17 / 29 p.E745* c.2233G>T   Tier2 1 / 117
chrX:44929237 GCT G 17 / 29 p.S781fs c.2342_2343delCT COSV65042387 Tier2 1 / 117
chrX:44929411 CACAA C 17 / 29 p.N839fs c.2515_2518delAACA COSV65039572 Tier2 1 / 117
chrX:44938435 G T 20 / 29 p.E995* c.2983G>T COSV65043367 Tier2 1 / 117
chrX:44938447 G T 20 / 29 p.E999* c.2995G>T COSV65038034 Tier2 1 / 117
chrX:44945187 G T 24 / 29 p.E1171* c.3511G>T   Tier2 1 / 117
chrX:44949076 C T 25 / 29 p.R1213* c.3637C>T COSV65038395 Tier2 2 / 117
chrX:44966716 G T 27 / 29 p.G1314* c.3940G>T COSV65040483 Tier2 1 / 117
chrX:44966750 AAGAACCAGCTCATT A 27 / 29 p.E1326fs c.3976_3989delGAACCAGCTCATTA   Tier2 1 / 117
chrX:44969327 G T 28 / 29 p.E1337* c.4009G>T COSV65042113 Tier2 1 / 117
chrX:44969369 C T 28 / 29 p.R1351* c.4051C>T COSV65038966 Tier2 1 / 117
chrX:44969405 C T 28 / 29 p.R1363* c.4087C>T COSV100938725 Tier2 1 / 117