Table 2 Recurrent non-coding mutations in melanoma

From: Molecular characterisation of cutaneous melanoma: creating a framework for targeted and immune therapies

Gene name

Gene symbol

Reported genomic coordinates for predominant SNV

Frequency (cutaneous melanoma) (%)

mRNA expression

Telomerase reverse transcriptase

TERT

Chr5: 1 295 228 C>T

Chr5: 1 295 250 C>T

∼70

Increase

Ribosomal protein S27

RPS27

Chr1: 153 963 239 C>T

∼10

Increase

Succinate dehydrogenase complex, subunit D, integral membrane protein

SDHD

Chr11: 111 957 523 C>T

Chr11: 111 957 541 C>T

∼5–10

Decrease

Mitochondrial ribosomal protein S31

MRPS31

Chr13: 41 345 346 C>T

∼5

Unknown

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9

NDUFB9

Chr8: 125 551 344 C>T

∼5

Decrease

Diphthamide biosynthesis 3

DPH3

Chr3: 16 306 504 C>T

Chr3: 16 306 505 C>T/A

∼10

Increase

Oxidoreductase NAD-binding domain containing 1

OXNAD1

Chr3: 16 306 504 C>T

Chr3: 16 306 505 C>T/A

∼10

Increase

Nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, epsilon

NFKBIE

Chr6: 44 233 400 C>T

(clustered C>T from chr6: 44 233 379 to –44 233 439)

∼15

Unknown (proposed GoF)

  1. Abbreviations: SNV=single-nucleotide variant; 5′-UTR=untranslated region.
  2. Genomic coordinates (hg19) of predominant single-nucleotide variant (SNV), frequency and effect on mRNA expression are indicated for recently discovered promoter, 5′-UTR and non-coding mutations in cutaneous and desmoplastic melanomas.
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