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Table 1 Examples of captured transcripts with exonic eQTLs. Protein-coding genes whose expression is influenced by eQTLs are characterized by their function and tissue expression in GTEx. In brackets: fold change overexpression of associated genes in specific tissues compared to their average expression, as given by GTEx or Human Integrated Protein Expression Database (HIPED) [118] in case of KALRN

From: Intergenic disease-associated regions are abundant in novel transcripts

Captured transcript Highest tissue expression Haploblock associated phenotype eQTL Associated gene Gene function Tissue expression
GCS0300 Cervix Prostate cancer rs72928357 MYEOV Stimulation of cancer growth and proliferation [119] Vagina (2.6x)
GCS0406 Heart HDL cholesterol rs7134375 PDE3A Hypertension, fat metabolism [120] Heart (19x)
GCS0736 Liver, thyroid HDL cholesterol rs11875196 LIPG Modulation of HDL cholesterol [121] Liver (14x), thyroid (78x)
GCS1080 Heart Mean platelet volume rs13058993 KALRN Activates Rho GTPases to regulate actin cytoskeleton [122] Platelets (10x, HIPED), heart (2x)
GCS1212 Thyroid Thyroid function rs4835532 Mineralocorticoid receptor (NR3C2) Regulation of cellular ion concentrations [123] Thyroid (7.0x)
GCS0965 Testes Age at first menstruation rs708984 PCSK2 Conversion of proinsulin to insulin [124] Testis (2x), thyroid (15x)
GCS1190 Kidney Metabolic traits in urine rs2348209 ENPEP Peptide cleavage [125] Kidney (11x)