Side Menu

KIT

Basic information

Official gene symbol
KIT proto-oncogene, receptor tyrosine kinase
Conventional gene symbol
C-Kit, CD117, MASTC, PBT, SCFR
Classification
Oncogene
Official gene ID
3815(Refseq)
3815 (KEGG)
Transcript ID
NM_000222
Functional classification
Tumor growth and progression
Signaling pathway
RTK
Chromosomal location
4q12 (chr4:55524182..55604723)
Protein length
976

Chromosome ideogram

Pathway map

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
chr4:55592079 C T 9 / 21 p.P468L c.1403C>T COSV55404559 Tier1 2 / 185
chr4:55592106 C A 9 / 21 p.S477Y c.1430C>A COSV99854596 Tier1 1 / 185
chr4:55592178 C CTGCCTA 9 / 21 p.A502_Y503dup c.1504_1509dupGCCTAT COSV55386625 Tier1 2 / 185
chr4:55592183 T C 9 / 21 p.Y503H c.1507T>C   Tier1 1 / 185
chr4:55592184 A C 9 / 21 p.Y503S c.1508A>C   Tier1 1 / 185
chr4:55593431 G A 10 / 21 p.V530I c.1588G>A COSV55396593 Tier1 2 / 185
chr4:55593600 CAGTGGA C 11 / 21 p.W557_K558del c.1669_1674delTGGAAG COSV55387046 Tier1 8 / 185
chr4:55593600 CAGTGGAAGGTTGTTG C 11 / 21 p.W557_E561del c.1669_1683delTGGAAGGTTGTTGAG COSV55388067 Tier1 1 / 185
chr4:55593600 CAGTGGAAGGTTGTTGAGG C 11 / 21 p.W557_E562del c.1669_1686delTGGAAGGTTGTTGAGGAG COSV55415200 Tier1 1 / 185
chr4:55593603 T C 11 / 21 p.W557R c.1669T>C COSV55386440 Tier1 1 / 185
chr4:55593603 T G 11 / 21 p.W557G c.1669T>G COSV55387014 Tier1 1 / 185
chr4:55593603 TGGAAGG T 11 / 21 p.W557_V559delinsF c.1670_1675delGGAAGG COSV55387085 Tier1 5 / 185
chr4:55593604 GGAAGGT G 11 / 21 p.W557_V559delinsC c.1671_1676delGAAGGT COSV55389335 Tier1 1 / 185
chr4:55593604 GGAAGGTTGTTGAGGA G 11 / 21 p.K558_E562del c.1673_1687delAGGTTGTTGAGGAGA COSV55395617 Tier1 1 / 185
chr4:55593605 G C 11 / 21 p.W557C c.1671G>C COSV55418401 Tier1 1 / 185
chr4:55593606 A C 11 / 21 p.K558Q c.1672A>C   Tier1 1 / 185
chr4:55593607 A ATCC 11 / 21 p.K558delinsNP c.1673_1674insTCC COSV55402099 Tier1 1 / 185
chr4:55593608 GGTT G 11 / 21 p.V560del c.1679_1681delTTG COSV55391268 Tier1 4 / 185
chr4:55593610 T C 11 / 21 p.V559A c.1676T>C COSV55388782 Tier1 3 / 185
chr4:55593610 T A 11 / 21 p.V559D c.1676T>A COSV55386973 Tier1 6 / 185
chr4:55593610 T G 11 / 21 p.V559G c.1676T>G COSV55393324 Tier1 2 / 185
chr4:55593613 T A 11 / 21 p.V560D c.1679T>A COSV55386785 Tier1 4 / 185
chr4:55593619 AGATAAATGGAAACAATTATGTTT A 11 / 21 p.I563fs c.1686_1708delGATAAATGGAAACAATTATGTTT   Tier1 1 / 185
chr4:55593637 ATGTTTACATAGACCCAACACAACT A 11 / 21 p.V569_L576del c.1705_1728delGTTTACATAGACCCAACACAACTT COSV55417643 Tier1 1 / 185
chr4:55593643 ACATAGAC A 11 / 21 p.I571fs c.1711_1717delATAGACC   Tier1 1 / 185
chr4:55593646 T TAGACCC 11 / 21 p.D572_P573dup c.1714_1719dupGACCCA   Tier1 1 / 185
chr4:55593651 C CCAACACAACTTCCTTATG 11 / 21 p.Y578_D579insATQLPY c.1718_1735dupCAACACAACTTCCTTATG   Tier1 1 / 185
chr4:55593654 A ACACAAC 11 / 21 p.Q575_L576insPQ c.1721_1726dupCACAAC   Tier1 1 / 185
chr4:55593656 ACAACTT A 11 / 21 p.Q575_L576del c.1724_1729delAACTTC COSV55417055 Tier1 1 / 185
chr4:55593659 ACTT A 11 / 21 p.L576del c.1727_1729delTTC COSV55394835 Tier1 1 / 185
chr4:55593659 A ACTTCCTTATGAT 11 / 21 p.L576_D579dup c.1727_1738dupTTCCTTATGATC   Tier1 1 / 185
chr4:55593659 A ACTTCCTTATGATCACAAATGGGAGTTTCCC 11 / 21 p.L576_P585dup c.1726_1755dupCTTCCTTATGATCACAAATGGGAGTTTCCC COSV55397561 Tier1 1 / 185
chr4:55593661 T C 11 / 21 p.L576P c.1727T>C COSV55386593 Tier1 5 / 185
chr4:55593661 T TTCCTTA 11 / 21 p.P577_Y578dup c.1729_1734dupCCTTAT   Tier1 1 / 185
chr4:55593664 C CTTATGA 11 / 21 p.Y578_D579dup c.1732_1737dupTATGAT   Tier1 1 / 185
chr4:55593666 TATG T 11 / 21 p.D579del c.1735_1737delGAT COSV55389050 Tier1 4 / 185
chr4:55593988 G C 11 / 21   c.1775-1G>C   Tier1 1 / 185
chr4:55594221 A G 13 / 21 p.K642E c.1924A>G COSV55387507 Tier2 3 / 185
chr4:55594258 T C 13 / 21 p.V654A c.1961T>C COSV55389496 Tier1 4 / 185
chr4:55595519 C T 14 / 21 p.T670I c.2009C>T COSV55410040 Tier1 1 / 185
chr4:55599295 G C 17 / 21 p.K807N c.2421G>C   Tier1 1 / 185
chr4:55599298 T G 17 / 21 p.I808M c.2424T>G   Tier1 1 / 185
chr4:55599320 G C 17 / 21 p.D816H c.2446G>C COSV55386862 Tier1 1 / 185
chr4:55599338 A G 17 / 21 p.N822D c.2464A>G   Tier1 1 / 185
chr4:55599338 A T 17 / 21 p.N822Y c.2464A>T COSV55387376 Tier1 1 / 185
chr4:55599353 G C 17 / 21 p.G827R c.2479G>C   Tier1 1 / 185