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. 2020 Nov 27;12(12):3539. doi: 10.3390/cancers12123539

Table 2.

Summary of DNA sequencing and IHC of H3K36me3.

Case Gene Mutation Type CNV Exon AA Changes SIFT Prediction H3K36me3 IHC COSMIC ID
1 SETD2 Inflame indel NA exon 20 p.Phe2481-Gln2484del Probably damaging Negative None
JAK3 Missense NA exon 13 p.Ala573Val Damaging - COSM34215(17)
2 SETD2 Frameshift indel Normal exon 20 p.Tyr2489Trpfs*6 Probably damaging Negative None
JAK1 Missense Normal exon 22 p.Lys1026Glu Probably damaging - None
3 SETD2 Missense Normal exon 7 p.Cys1631Phe Incertain Negative None
JAK3 Missense Normal exon 13 p.Ala573Val Damaging - COSM34215(17)
STAT5B Missense Normal exon 18 p.Val712Glu Damaging - COSM5414165(1)
4 SETD2 Missense Loss exon 20 p.Leu2486Arg Probably damaging Negative None
JAK1 Missense Normal exon 15 p.Ser703Ile Damaging - COSM305942(10)
TP53 Missense Normal exon 7 p.Gly244Asp Damaging - COSM10735(43)
5 SETD2 Substitution (intron) Normal exon 5 - Probably damaging Negative None
JAK3 Splicing Normal exon 20 - Incertain - None
Missense exon 13 p.Ala573Val Damaging - None
STAT5B Missense Normal exon 16 p.Asn642His Damaging - COSM1716590(29)
6 SETD2 WT Loss - - - Positive None
JAK3 Missense Normal exon 11 p.Met511Ile Probably damaging - COSM51374(29)
7 SETD2 Splicing NA exon 1 - Probably damaging Negative None
Splicing exon 6 - Probably damaging None
JAK1 Missense NA exon 17 p.Leu783Phe Probably damaging - COSM41758(5)
JAK3 Missense NA exon 15 p.Val674Ala Probably damaging - COSM327317(7)
8 SETD2 WT Loss - - - Negative None
JAK1 Missense Normal exon 15 p.Ser703Cys Incertain - None
JAK3 Missense Normal exon 15 p.Val674Ala Probably damaging - COSM327317(7)
PIK3CD Missense Normal exon 8 p.Met339Lys Incertain - None
TP53 Missense Normal exon 10 p.Arg337His Probably damaging - None
9 SETD2 Missense Loss exon 11 p.Ser1769Tyr Incertain Negative None
STAT5B Missense Normal exon 16 p.Asn642His Damaging - COSM1716590(29)
ATM Missense Normal exon 19 p.Pro960His Incertain - None

The data of CNV are from reference [15]. Abbreviations: CNV, copy number variation; COSMIC, Catalogue of Somatic Mutation in Cancer; NA, not analysed.