Table 3.
Histones and histones modifiers found mutated in HNSCC (NGS)
| Gene Name |
Gene Alias | UniProt | Protein Name | Protein Alias | cDNA Change | Mutation type | Protein Change |
|---|---|---|---|---|---|---|---|
| BCOR | KIAA1575 | Q6W2J9 | BCL-6 corepressor | BCoR | c.5486G>T | Nonsense | p.E1732 |
| BCORL1 | Q5H9F3 | BCoR-L1 | BCoR-like protein 1 | c.3989G>A | Missense | p.R1292Q | |
| CREBBP | CBP | Q92793 | CREB-binding protein | --- | c.4541G>A c.4765G>T c.1711C>T c.3053C>T c.964G>C |
Missense Missense Nonsense Missense Missense |
p.R1446H p.D1521Y p.Q503 p.T950M p.A254P |
| EHMT1 | UHMTASE1, GLP, KIAA1876, KMT1D | Q9H9B1 | EHMT1 | Eu-HMTase1, GLP, GLP1, H3-K9-HMTase 5. | c.1157G>A c.168G>C |
Missense Missense |
p.D374N p.G44A |
| EHMT2 | BAT8, C6orf30, G9A, KMT1C, NG36 | Q96KQ7 | EHMT2 | Euchromatic histone-lysine N-methyltransferase 2, HLA-B-associated transcript 8, H3-K9-HMTase 3 | c.1155C>T | Missense | p.S384L |
| EP300 | P300 | Q09472 | p300 HAT | E1A-associated protein p300 | c.4549G>T c.4590G>A c.4154G>T |
Missense Missense Missense |
p.C1385F p.D1399N p.C1385F |
| H2BFWT | --- | Q7Z2G1 | Histone H2B type W-T | H2B histone family member W testis-specific | c.451C>T | Missense | p.R143C |
| H3F3A | H3.3A, H3F3, H3.3B | P84243 | H3.3 | --- | c.122C>T | Missense | p.R3C |
| H3F3C | --- | Q6NXT2 | H3.3C | H3.5 | c.439A>G c.172A>G |
Missense Missense |
p.K122E p.T33A |
| HDAC3 | --- | O15379 | HD3 | RPD3-2, SMAP45 | c.968G>T | Missense | p.R301L |
| HDAC4 | KIAA0288 | P56524 | HD4 | --- | c.3452G>T | Missense | p.G887V |
| HDAC9 | HDAC7, HDAC7B, HDRP, KIAA0744, MITR | Q9UKV0 | HD9 | HD7, HD7b, Histone deacetylase-related protein, MEF2-interacting transcription repressor MITR | c.2643C>A | Missense | p.H868N |
| HIST1H1B | H1F5 | P16401 | H1.5 | H1a, H1b, H1s-3 | c.727G>C | Missense | p.K225N |
| HIST1H1E | H1F4 | P10412 | H1.4 | H1b, H1s-4 | c.146G>A | Missense | p.G29D |
| HIST1H2AJ | H2AFE | Q99878 | H2A type 1-J | H2A/e | c.89G>A c.56C>T |
Missense Missense |
p.R30Q p.S19F |
| HIST1H2BF | HIST1H2BC, HIST1H2BE, HIST1H2BG, HIST1H2BI | P62807 | H2B type 1-C/E/F/G/I | H2B/a, H2B/g, H2B/h, H2B/k, H2B/l | c.229G>A c.152C>G |
Missense Missense |
p.E77K p.P51A |
| HIST1H2BH | H2BFJ | Q93079 | H2B type 1-H | H2B/j | c.9T>G c.67C>A |
Missense Missense |
p.D3E p.Q23K |
| HIST1H3A | HIST1H3B, HIST1H3C, HIST1H3D, HIST1H3E, HIST1H3F, HIST1H3G, HIST1H3H, HIST1H3I, HIST1H3J | P68431 | H3.1 | H3/a, H3/b, H3/c, H3/d, H3/f, H3/h, H3/I, H3/j, H3/k, H3/l | c.125A>G c.90G>A c.120A>T c.103A>T |
Missense Missense Missense Missense |
p.Y42C p.R27Q p.K37M p.T33S |
| HIST1H4B | HIST1H4A, HIST1H4C, HIST1H4D, HIST1H4E, HIST1H4F, HIST1H4H, HIST1H4I, HIST1H4J, HIST1H4K, HIST1H4L, HIST2H4A, HIST2H4B, HIST4H4 | P62805 | H4 | --- | c.202C>T c.77A>T c.162G>C c.11G>A c.262G>T c.118C>G c.39A>T |
Missense Missense Missense Missense Missense Missense |
p.R68W p.N26I p.E54D p.R4K p.V88F p.R40G p.K13I |
| HIST2H2AB | --- | Q8IUE6 | H2A type 2-B | --- | c.133G>A | Missense | p.G45R |
| HIST2H2BE | H2BFQ | Q16778 | H2B type 2-E | H2B-GL105, H2B/q | c.247G>A | Missense | p.D69N |
| KDM3A | JHDM2A, JMJD1, JMJD1A, KIAA0742, TSGA | Q9Y4C1 | Lysine-specific demethyla, se 3A | Jumonji domain-containing protein 1A | c.3698C>G c.4178C>A |
Missense Nonsense |
p.S1124C p.S1284 |
| KDM4A | JHDM3A, JMJD2, JMJD2A, KIAA0677 | O75164 | Lysine-specific demethylase 4A | Jumonji domain-containing protein 2A | c.174C>T c.503G>A c.2150G>T |
Missense Missense Missense |
p.S3F p.E113K p.A662S |
| KDM4B | JHDM3B, JMJD2B, KIAA0876 | O94953 | Lysine-specific demethylase 4B | Jumonji domain-containing protein 2B | c.1418T>C | Missense | p.S398P |
| KDM5A | JARID1A, RBBP2, RBP2 | P29375 | Lysine-specific demethylase 5A | Jumonji/ARID domain-containing protein 1A, RBBP-2 | c.5287G>C c.2708G>A |
Missense Missense |
p.G1642R p.R782Q |
| KDM5B | JARID1B, PLU1, RBBP2H1 | Q9UGL1 | Lysine-specific demethylase 5B | CT31, Histone demethylase JARID1B, Jumonji/ARID domain-containing protein 1B, PLU-1, RBP2-H1 | c.1741A>T c.2368G>A |
Missense Missense |
p.Y542F p.C751Y |
| KDM5C | DXS1272E, JARID1C, SMCX, XE169 | P41229 | Lysine-specific demethylase 5C | Histone demethylase JARID1C, Jumonji/ARID domain-containing protein 1C, SmcX, protein Xe169 | c.1539G>C | Missense | p.D336H |
| MYST1 | KAT8, MOF | Q9H7Z6 | MYST-1 | Lysine acetyltransferase 8, MOZ, YBF2/SAS3, SAS2 and TIP60 protein1, hMOF | c.829C>G | Missense | p.L271V |
| MYST2 | KAT7, HBO1, HBOa | O95251 | MYST-2 | KAT7, Histone acetyltransferase binding to ORC1 Lysine acetyltransferase 7, MOZ, YBF2/SAS3, SAS2 and TIP60 protein 2 | c.179C>T c.1016_1017delTT |
Missense Frame_Shift_Del |
p.S18F p.L297fs |
| MYST3 | MOZ, KAT6A, RUNXBP2, ZNF220 | Q92794 | MYST-3 | KAT6A, MOZ, YBF2/SAS3, SAS2 and TIP60 protein 3 | c.3999G>T | Missense | p.W1152L |
| NAT10 | ALP, KIAA1709 | Q9H0A0 | N-acetyltransferase 10 | c.1598G>A | Missense | p.A452T | |
| PHF21A | BHC80, KIAA1696 | Q96BD5 | PHD finger protein 21A | BHC80a BRAF35-HDAC complex protein BHC80 | c.2553C>G c.2491C>T |
Missense Missense |
p.I643M p.R623C |
| RCOR1 | KIAA0071, RCOR | Q9UKL0 | REST corepressor 1 | CoREST | c.e3_splice_site | Splice_Site_SNP | |
| RCOR2 | --- | Q8IZ40 | REST corepressor 2 | --- | c.731A>T | Nonsense | p.K115 |
| RCOR3 | KIAA1343 | Q9P2K3 | REST corepressor 3 | --- | c.559A>T | Missense | p.M122L |
| TNP2 | --- | Q05952 | TP-2 | --- | c.206C>A | Missense | p.S55R |
Data represents HNSCC mutations by Stransky N. et al, and Agrawal et al supplemented by UniProt database (http://www.uniprot.org/), and COSMIC (http://cancer.sanger.ac.uk/cancergenome/project/cosmic/). Only missense and nonsense mutations along with frame shift deletions and splice site SNP of histones and histones associated modifiers were included. Synonymous mutations were excluded.