This region overlaps a 5′ CpG island within an active promoter across multiple tissue types (according to ChromHMM), approximately ~1500 bp from the transcription start site (TSS) of TIMM44. TIMM44 has previously been associated with familial non-medullary thyroid carcinoma [41], aggressive serous ovarian cancers [42] and breast cancer recurrence [43]. Here, TIMM44 is linked to medullary thyroid gland carcinoma.