Curated list of KLF1-dependent genes
| . | . | Absolute expression level (FPKM) . | P/O ratio . | Refs‡ . | |||||
|---|---|---|---|---|---|---|---|---|---|
| Gene symbol . | Alternate name or comment/function . | ProE . | eBaso . | lBaso . | Poly . | Ortho . | Proband . | ||
| Category 1: Transmembrane proteins/red blood cell antigens* | |||||||||
| LRP11 | Wnt coreceptor | 18.5 | 14.5 | 9.48 | 6.66 | 48.82 | 0.31 | 0.006 | |
| SLC6A19 | AA transporter | 0.10 | 0.48 | 3.59 | 24.15 | 32.97 | 0.30 | 0.009 | |
| SLC2A4 | Glut4 | 4.93 | 4.57 | 5.88 | 33.46 | 82.20 | 1.29 | 0.016 | 47 |
| ART4 | Dombrock Ag | 2.94 | 6.94 | 16.93 | 46.54 | 59.98 | 1.09 | 0.018 | 78 |
| GYPA | Glycophorin A | 78.7 | 136 | 274.6 | 719.7 | 663.8 | 8.01 | 0.012 | |
| SLC22A23 | Cation transporter | 4.83 | 6.21 | 10.10 | 66.95 | 195.4 | 3.20 | 0.016 | |
| SLC6A9 | Glycine transporter | 7.57 | 28.6 | 91.76 | 378.2 | 439.3 | 11.59 | 0.026 | |
| TMEM56 | Unknown function | 41.1 | 49.3 | 66.84 | 77.32 | 93.89 | 2.49 | 0.027 | |
| GYPE | Glycophorin E | 23.1 | 41.7 | 84.65 | 213.9 | 203.1 | 6.43 | 0.032 | |
| SLC16A1 | Lactate transporter | 14.1 | 9.97 | 4.99 | 34.24 | 245.3 | 8.40 | 0.034 | |
| SLC7A5 | AA transporter | 41.8 | 77.4 | 155.6 | 590.0 | 1396 | 48.73 | 0.035 | |
| CLCN3 | Chloride channel | 16.3 | 24.3 | 49.19 | 188.1 | 342.2 | 12.07 | 0.035 | |
| ERMAP | Scianna Ag | 39.6 | 56.1 | 98.29 | 277.4 | 681.2 | 33.42 | 0.049 | 79 |
| DARC | Duffy Ag | 3.84 | 5.75 | 14.06 | 50.03 | 52.14 | 2.64 | 0.051 | 29 |
| SLC14A1 | Kidd Ag | 0.57 | 1.33 | 5.77 | 46.87 | 179.7 | 10.19 | 0.057 | |
| XK | X-linked Kx blood group | 35.1 | 36.5 | 48.38 | 61.53 | 103.5 | 6.90 | 0.067 | |
| RHD | Major blood group | 2.00 | 9.81 | 35.09 | 86.75 | 103.3 | 7.16 | 0.069 | |
| SLC30A1 | Zinc transporter | 7.58 | 13.1 | 24.41 | 84.92 | 214.3 | 17.13 | 0.080 | |
| LRRC8A | Swell1– water channel | 4.50 | 5.76 | 8.83 | 61.02 | 201.8 | 24.12 | 0.120 | 50 |
| ICAM4 | Landsteiner-Wiener Ag | 42.5 | 49.2 | 78.35 | 82.47 | 68.9 | 10.94 | 0.159 | 49 |
| RHCE | Rh-associated | 2.75 | 12.9 | 49.61 | 121.0 | 109.4 | 30.41 | 0.278 | |
| KEL | Kell | 31.1 | 47.5 | 72.01 | 101.9 | 124.9 | 36.02 | 0.288 | 29 |
| RHAG† | Membrane complex | 181 | 207 | 316.8 | 687 | 393.9 | 23.67 | 0.03 | 29 |
| AQP1 | Water channel | 31.4 | 53.5 | 90.45 | 104 | 28.69 | 4.54 | 0.04 | 11 |
| Category 2: Cell division and cytokinesis | |||||||||
| TRIB3 | Tribbles 3 | 0.57 | 7.54 | 43.0 | 431.5 | 508.8 | 7.53 | 0.015 | |
| CEP76 | Centrosome | 4.21 | 5.05 | 7.09 | 17.55 | 51.84 | 1.26 | 0.024 | |
| KLC3 | Kinesin light-chain 3 | 0.65 | 0.51 | 0.43 | 10.37 | 62.50 | 2.53 | 0.040 | |
| STRADB | STE20-related kinase ad | 44 | 43.83 | 60.1 | 409.9 | 935.1 | 48.98 | 0.052 | |
| KLHL21 | Bric-c-brac family | 10.4 | 9.73 | 8.14 | 20.97 | 393.3 | 20.90 | 0.053 | 80 |
| E2F2 | S-phase regulation | 3.20 | 16.37 | 57.4 | 207.4 | 478.6 | 60.12 | 0.126 | 45,51 |
| SERTAD1 | Cdk4 inhibitor | 1.02 | 0.95 | 1.00 | 7.52 | 136.3 | 19.63 | 0.144 | |
| CCNA2 | Cyclin A | 57.3 | 79.70 | 136 | 168 | 49.19 | 4.08 | 0.02 | 81 |
| KIF11† | Eg5–mitosis regulation | 17.4 | 26.18 | 50.8 | 63.29 | 19.89 | 2.95 | 0.05 | |
| SKA1† | Spindle and kinetocore | 11.3 | 16.51 | 29.8 | 38.99 | 6.50 | 2.06 | 0.05 | |
| KIF23† | Mutated in CDA type III | 11.2 | 18.97 | 40.6 | 53.24 | 10.62 | 4.15 | 0.08 | 9 |
| CDKN2C† | p18 | 9.60 | 15.77 | 36.4 | 79.99 | 32.65 | 18.12 | 0.23 | 52 |
| Category 3: Cytoskeleton | |||||||||
| TBCEL | Tubulin folding | 2.64 | 2.35 | 2.87 | 62.41 | 466.4 | 19.80 | 0.042 | |
| ANKRD9 | Ank Repeat | 3.89 | 6.58 | 12.4 | 85.62 | 471.7 | 22.74 | 0.048 | |
| NEK7 | NIMA kinase | 5.75 | 6.95 | 10.6 | 31.37 | 63.20 | 3.93 | 0.062 | 57,82 |
| ANK1 | Ankyrin 1 | 93.4 | 118.1 | 174 | 450.6 | 824.0 | 66.58 | 0.081 | 83 |
| SLC4A1 | Band 3 | 145 | 501.4 | 1390 | 3984 | 5925 | 695 | 0.117 | |
| KANK2 | KN motif and ankyrin | 12.7 | 13.05 | 10.9 | 26.52 | 80.56 | 15.02 | 0.186 | |
| SPTB | β-spectrin | 66.5 | 113.54 | 202 | 455.9 | 365.6 | 99.08 | 0.271 | |
| SPTA1† | α-spectrin | 55.4 | 75.10 | 133 | 431.1 | 287.2 | 68.75 | 0.16 | |
| Category 4: Heme, iron procurement, and globin | |||||||||
| ABCG2 | Heme transporter | 1.68 | 3.33 | 8.81 | 25.97 | 69.9 | 0.26 | 0.004 | |
| SLC40A1 | Ferroportin | 76.1 | 58.92 | 43.1 | 268.2 | 1103 | 8.19 | 0.007 | |
| ABCB6 | Heme transporter | 11.4 | 19.04 | 39.4 | 175.4 | 506.4 | 13.46 | 0.027 | |
| HBD | δ-globin | 313 | 373.5 | 589 | 1415 | 2597 | 85.7 | 0.033 | |
| TSPO2 | Benzodiazepine receptor | 3.25 | 7.83 | 32.2 | 128.4 | 162.8 | 8.75 | 0.054 | 84 |
| TFR2 | Transferrin receptor | 66.9 | 62.6 | 76.7 | 157.5 | 158.4 | 10.72 | 0.068 | |
| ABCB10 | ABC-me heme transport | 77.4 | 104 | 168 | 191.2 | 140.8 | 10.25 | 0.073 | 85 |
| BPGM | Controls 2,3 DPG level | 12.8 | 17.99 | 32.6 | 403.8 | 3106 | 396 | 0.128 | |
| FCH | Heme synthesis | 60.9 | 71.13 | 105 | 270 | 473.1 | 69.28 | 0.146 | |
| HMBS | Heme biosynthesis | 163 | 309.4 | 614 | 1402 | 2685 | 449 | 0.167 | |
| CPOX† | Heme synthesis | 81.7 | 110.4 | 189 | 381.4 | 217.8 | 9.80 | 0.03 | |
| HEMGN† | Hemogenin | 101 | 243.6 | 542 | 1139 | 545.3 | 69.76 | 0.06 | |
| Category 5: Cell signaling molecules or enzymes | |||||||||
| SRGAP2C | Slit-Robo GTPase-activating protein | 1.57 | 2.49 | 5.55 | 32.15 | 57.5 | 0.46 | 0.008 | |
| B3GNT8 | A glucosyl transferase | 0.10 | 0.12 | 0.35 | 8.13 | 236.1 | 3.92 | 0.017 | |
| FBXO30 | Fbxw7, ubiquitin ligase | 4.48 | 4.11 | 5.70 | 102.2 | 581.3 | 10.17 | 0.017 | 86 |
| SORD | Sorbitol dehydrogenase | 23 | 16.6 | 8.74 | 1.86 | 44.3 | 1.05 | 0.024 | |
| FHDC1 | FH2 domain–containing 1 | 4.89 | 13.4 | 36.12 | 189.5 | 532.2 | 13.43 | 0.025 | |
| MSMO1 | Mono-oxygenase | 19.1 | 15.2 | 14.00 | 49.47 | 225.1 | 5.84 | 0.026 | |
| MOB1B | MOB kinase | 13.6 | 17.7 | 29.44 | 152.6 | 358.4 | 9.50 | 0.027 | |
| HES6 | Hairy enhancer of split | 93.1 | 176 | 276.9 | 382.5 | 201.6 | 6.54 | 0.032 | |
| PLEK2 | Pleckstrin 2 | 1.38 | 2.63 | 4.21 | 122.1 | 482.4 | 16.65 | 0.035 | 87 |
| DYRK3 | Kinase in stress erythropoiesis | 16.1 | 14.8 | 13.14 | 41.77 | 235.8 | 11.85 | 0.050 | 63 |
| RAPGEF2 | Rap guanine nucleotide exchange | 8.90 | 9.73 | 13.01 | 97.57 | 415.2 | 37.22 | 0.090 | 88 |
| PIGQ | phosphatidylinositol biogenesis | 39.3 | 60.2 | 99.13 | 135.9 | 163.7 | 24.95 | 0.152 | |
| BMP2K | BMP2-inducible kinase | 27.3 | 30.6 | 41.93 | 139.6 | 261.9 | 13.99 | 0.053 | |
| EPOR | Erythropoietin receptor | 58.1 | 73.9 | 101.3 | 200.3 | 204.1 | 12.33 | 0.060 | 89,90 |
| RAP1GAP | RAP1-specific GAP | 7.96 | 14.9 | 44.70 | 469 | 444.6 | 32.15 | 0.072 | |
| MAST3 | Microtubule S/T kinase | 3.22 | 4.50 | 7.57 | 43.14 | 256.3 | 18.57 | 0.072 | |
| AIDA | Axin inhibitor | 34.1 | 35.4 | 43.33 | 92.56 | 83.54 | 6.19 | 0.074 | |
| PIK3R2 | PI3K regulatory unit 2 | 27.1 | 34.2 | 45.64 | 60.38 | 286.0 | 33.17 | 0.116 | 61 |
| PBK† | PDZ-containing kinase | 16.9 | 22.3 | 35.32 | 47.76 | 7.50 | 0.13 | 0.001 | |
| PKDCC† | Cytoplasmic kinase | 3.78 | 6.31 | 11.13 | 34.68 | 15.44 | 0.18 | 0.01 | |
| Category 6: Transcription factors and nuclear proteins | |||||||||
| NSUN3 | NOP2/Sun, RNA methyltransferase | 2.02 | 2.45 | 2.55 | 22.41 | 264.7 | 9.61 | 0.036 | |
| BEX1 | LMO2 interaction | 9.09 | 8.04 | 7.47 | 28.08 | 38.34 | 1.60 | 0.042 | 91 |
| AFF1 | pTEFb interaction, elongation | 12.2 | 14.3 | 20.88 | 88.14 | 303.3 | 13.74 | 0.045 | |
| TAL1 | SCL, essential erythroid transcription factor | 44.8 | 58.9 | 93.64 | 275.6 | 382.1 | 19.15 | 0.050 | 92,93 |
| SSSCA1 | Sjögren Ag | 32.3 | 35.3 | 32.51 | 27.88 | 108.9 | 6.54 | 0.060 | |
| CTBP2 | Corepressor–binds KLF3 | 21.3 | 22.8 | 28.26 | 48.47 | 109.9 | 6.99 | 0.064 | 59 |
| FOXO3 | Antiapoptosis transcription factor | 4.91 | 6.74 | 13.47 | 141.5 | 468.1 | 35.67 | 0.076 | 58 |
| USP12 | Coactivator of transcription | 10.7 | 11.6 | 17.04 | 95.48 | 279.2 | 22.11 | 0.079 | |
| MBNL2 | Muscleblind-2–splicing factor | 3.62 | 5.67 | 14.56 | 86.09 | 140.5 | 11.27 | 0.080 | 94 |
| TCEANC | TF IIS–basal transcription | 1.19 | 1.65 | 2.97 | 23.53 | 104.9 | 8.45 | 0.081 | |
| ELF3 | Ets family transcription factor | 0.00 | 0.01 | 0.01 | 2.11 | 53.09 | 4.70 | 0.088 | |
| SOX6 | Essential transcription factor for erythropoiesis | 1.17 | 4.00 | 13.58 | 36.75 | 31.83 | 3.63 | 0.114 | 75,76,95 |
| ARID3A | Regulates transcription | 4.84 | 4.64 | 6.12 | 62.87 | 159.3 | 19.08 | 0.120 | 96 |
| EGR1 | Krox-24/Zif268 transcription factor | 1.00 | 3.87 | 8.80 | 59.25 | 75.43 | 9.67 | 0.128 | |
| SF3B3 | Splicing factor | 24.6 | 25.1 | 20.67 | 16.88 | 84.92 | 17.76 | 0.209 | |
| KLF1 | Decreased by RNA decay | 204 | 244 | 338.8 | 813.5 | 1446 | 397 | 0.275 | |
| GATA1 | Erythroid transcription factor | 123 | 137 | 174.4 | 238.4 | 391.4 | 118 | 0.301 | |
| Category 7: Other classes | |||||||||
| TSKU | Tsukushi, Wnt, and BMP inhibitors | 3.35 | 4.22 | 6.09 | 19.76 | 31.25 | 0.09 | 0.003 | 97,98 |
| IGF2 | Insulin-like growth factor | 0.11 | 1.13 | 6.33 | 7.46 | 44.91 | 0.14 | 0.003 | |
| GDF15 | Stress erythropoiesis | 1.44 | 5.92 | 28.3 | 1071 | 2982 | 9.54 | 0.003 | 99 |
| NUDT4P1 | Nudix domain hydrolase | 30.9 | 52.8 | 124 | 753.4 | 2082 | 26.6 | 0.013 | |
| ARG2 | Arginase | 2.38 | 4.70 | 19.1 | 368.8 | 443.7 | 5.24 | 0.012 | |
| RSC1A1 | Overlaps DDI2 (see below) | 20.2 | 20.41 | 20.7 | 59.27 | 132.5 | 2.07 | 0.016 | |
| TUFT1 | Tuftelin 1 | 0.41 | 0.54 | 1.00 | 36.00 | 148.1 | 5.45 | 0.037 | |
| DDI2 | DNA-damage inducible 1 homolog 2 | 14.4 | 15.73 | 16.6 | 46.44 | 107.1 | 9.38 | 0.088 | |
| TRIM58 | GATA1 target gene | 20.5 | 19.88 | 21.9 | 277.1 | 2189 | 337 | 0.154 | 81 |
| FCHO2 | Endocytosis | 6.83 | 7.91 | 13.2 | 42.48 | 62.18 | 2.85 | 0.046 | |
| LNX2 | Ligand of numb | 3.94 | 3.43 | 3.74 | 19.76 | 82.31 | 4.10 | 0.050 | |
| TSPAN5 | Tetraspanin 5 | 11.1 | 14.93 | 26.3 | 132.3 | 521.7 | 34.0 | 0.065 | |
| DCUN1D1 | SSCRO–Neddylation E3 | 21.4 | 23.94 | 33.8 | 138.7 | 176.7 | 12.13 | 0.069 | |
| KIAA0232 | Unknown Fx | 2.76 | 3.48 | 5.72 | 59.64 | 241.6 | 19.86 | 0.082 | |
| ATG4D | Autophagy, cleaved by caspase 3 | 8.75 | 13.07 | 23.0 | 78.49 | 197.1 | 21.62 | 0.110 | 100,101 |
| AMBRA1 | Autophagy, interacts with ULK1 | 7.77 | 7.68 | 8.62 | 40.74 | 180.4 | 20.35 | 0.113 | 66 |
| BBC3 | BH3-only protein PUMA, BAK activator | 6.21 | 8.91 | 16.8 | 83.31 | 170.6 | 20.82 | 0.122 | 102 |
| ULK1 | ATG1–autophagy | 3.39 | 4.78 | 9.29 | 70.24 | 192.3 | 24.89 | 0.129 | 103 |
| STX2† | Syntaxin 2 | 10.7 | 15.51 | 26.3 | 59.98 | 35.38 | 2.64 | 0.04 | |
| . | . | Absolute expression level (FPKM) . | P/O ratio . | Refs‡ . | |||||
|---|---|---|---|---|---|---|---|---|---|
| Gene symbol . | Alternate name or comment/function . | ProE . | eBaso . | lBaso . | Poly . | Ortho . | Proband . | ||
| Category 1: Transmembrane proteins/red blood cell antigens* | |||||||||
| LRP11 | Wnt coreceptor | 18.5 | 14.5 | 9.48 | 6.66 | 48.82 | 0.31 | 0.006 | |
| SLC6A19 | AA transporter | 0.10 | 0.48 | 3.59 | 24.15 | 32.97 | 0.30 | 0.009 | |
| SLC2A4 | Glut4 | 4.93 | 4.57 | 5.88 | 33.46 | 82.20 | 1.29 | 0.016 | 47 |
| ART4 | Dombrock Ag | 2.94 | 6.94 | 16.93 | 46.54 | 59.98 | 1.09 | 0.018 | 78 |
| GYPA | Glycophorin A | 78.7 | 136 | 274.6 | 719.7 | 663.8 | 8.01 | 0.012 | |
| SLC22A23 | Cation transporter | 4.83 | 6.21 | 10.10 | 66.95 | 195.4 | 3.20 | 0.016 | |
| SLC6A9 | Glycine transporter | 7.57 | 28.6 | 91.76 | 378.2 | 439.3 | 11.59 | 0.026 | |
| TMEM56 | Unknown function | 41.1 | 49.3 | 66.84 | 77.32 | 93.89 | 2.49 | 0.027 | |
| GYPE | Glycophorin E | 23.1 | 41.7 | 84.65 | 213.9 | 203.1 | 6.43 | 0.032 | |
| SLC16A1 | Lactate transporter | 14.1 | 9.97 | 4.99 | 34.24 | 245.3 | 8.40 | 0.034 | |
| SLC7A5 | AA transporter | 41.8 | 77.4 | 155.6 | 590.0 | 1396 | 48.73 | 0.035 | |
| CLCN3 | Chloride channel | 16.3 | 24.3 | 49.19 | 188.1 | 342.2 | 12.07 | 0.035 | |
| ERMAP | Scianna Ag | 39.6 | 56.1 | 98.29 | 277.4 | 681.2 | 33.42 | 0.049 | 79 |
| DARC | Duffy Ag | 3.84 | 5.75 | 14.06 | 50.03 | 52.14 | 2.64 | 0.051 | 29 |
| SLC14A1 | Kidd Ag | 0.57 | 1.33 | 5.77 | 46.87 | 179.7 | 10.19 | 0.057 | |
| XK | X-linked Kx blood group | 35.1 | 36.5 | 48.38 | 61.53 | 103.5 | 6.90 | 0.067 | |
| RHD | Major blood group | 2.00 | 9.81 | 35.09 | 86.75 | 103.3 | 7.16 | 0.069 | |
| SLC30A1 | Zinc transporter | 7.58 | 13.1 | 24.41 | 84.92 | 214.3 | 17.13 | 0.080 | |
| LRRC8A | Swell1– water channel | 4.50 | 5.76 | 8.83 | 61.02 | 201.8 | 24.12 | 0.120 | 50 |
| ICAM4 | Landsteiner-Wiener Ag | 42.5 | 49.2 | 78.35 | 82.47 | 68.9 | 10.94 | 0.159 | 49 |
| RHCE | Rh-associated | 2.75 | 12.9 | 49.61 | 121.0 | 109.4 | 30.41 | 0.278 | |
| KEL | Kell | 31.1 | 47.5 | 72.01 | 101.9 | 124.9 | 36.02 | 0.288 | 29 |
| RHAG† | Membrane complex | 181 | 207 | 316.8 | 687 | 393.9 | 23.67 | 0.03 | 29 |
| AQP1 | Water channel | 31.4 | 53.5 | 90.45 | 104 | 28.69 | 4.54 | 0.04 | 11 |
| Category 2: Cell division and cytokinesis | |||||||||
| TRIB3 | Tribbles 3 | 0.57 | 7.54 | 43.0 | 431.5 | 508.8 | 7.53 | 0.015 | |
| CEP76 | Centrosome | 4.21 | 5.05 | 7.09 | 17.55 | 51.84 | 1.26 | 0.024 | |
| KLC3 | Kinesin light-chain 3 | 0.65 | 0.51 | 0.43 | 10.37 | 62.50 | 2.53 | 0.040 | |
| STRADB | STE20-related kinase ad | 44 | 43.83 | 60.1 | 409.9 | 935.1 | 48.98 | 0.052 | |
| KLHL21 | Bric-c-brac family | 10.4 | 9.73 | 8.14 | 20.97 | 393.3 | 20.90 | 0.053 | 80 |
| E2F2 | S-phase regulation | 3.20 | 16.37 | 57.4 | 207.4 | 478.6 | 60.12 | 0.126 | 45,51 |
| SERTAD1 | Cdk4 inhibitor | 1.02 | 0.95 | 1.00 | 7.52 | 136.3 | 19.63 | 0.144 | |
| CCNA2 | Cyclin A | 57.3 | 79.70 | 136 | 168 | 49.19 | 4.08 | 0.02 | 81 |
| KIF11† | Eg5–mitosis regulation | 17.4 | 26.18 | 50.8 | 63.29 | 19.89 | 2.95 | 0.05 | |
| SKA1† | Spindle and kinetocore | 11.3 | 16.51 | 29.8 | 38.99 | 6.50 | 2.06 | 0.05 | |
| KIF23† | Mutated in CDA type III | 11.2 | 18.97 | 40.6 | 53.24 | 10.62 | 4.15 | 0.08 | 9 |
| CDKN2C† | p18 | 9.60 | 15.77 | 36.4 | 79.99 | 32.65 | 18.12 | 0.23 | 52 |
| Category 3: Cytoskeleton | |||||||||
| TBCEL | Tubulin folding | 2.64 | 2.35 | 2.87 | 62.41 | 466.4 | 19.80 | 0.042 | |
| ANKRD9 | Ank Repeat | 3.89 | 6.58 | 12.4 | 85.62 | 471.7 | 22.74 | 0.048 | |
| NEK7 | NIMA kinase | 5.75 | 6.95 | 10.6 | 31.37 | 63.20 | 3.93 | 0.062 | 57,82 |
| ANK1 | Ankyrin 1 | 93.4 | 118.1 | 174 | 450.6 | 824.0 | 66.58 | 0.081 | 83 |
| SLC4A1 | Band 3 | 145 | 501.4 | 1390 | 3984 | 5925 | 695 | 0.117 | |
| KANK2 | KN motif and ankyrin | 12.7 | 13.05 | 10.9 | 26.52 | 80.56 | 15.02 | 0.186 | |
| SPTB | β-spectrin | 66.5 | 113.54 | 202 | 455.9 | 365.6 | 99.08 | 0.271 | |
| SPTA1† | α-spectrin | 55.4 | 75.10 | 133 | 431.1 | 287.2 | 68.75 | 0.16 | |
| Category 4: Heme, iron procurement, and globin | |||||||||
| ABCG2 | Heme transporter | 1.68 | 3.33 | 8.81 | 25.97 | 69.9 | 0.26 | 0.004 | |
| SLC40A1 | Ferroportin | 76.1 | 58.92 | 43.1 | 268.2 | 1103 | 8.19 | 0.007 | |
| ABCB6 | Heme transporter | 11.4 | 19.04 | 39.4 | 175.4 | 506.4 | 13.46 | 0.027 | |
| HBD | δ-globin | 313 | 373.5 | 589 | 1415 | 2597 | 85.7 | 0.033 | |
| TSPO2 | Benzodiazepine receptor | 3.25 | 7.83 | 32.2 | 128.4 | 162.8 | 8.75 | 0.054 | 84 |
| TFR2 | Transferrin receptor | 66.9 | 62.6 | 76.7 | 157.5 | 158.4 | 10.72 | 0.068 | |
| ABCB10 | ABC-me heme transport | 77.4 | 104 | 168 | 191.2 | 140.8 | 10.25 | 0.073 | 85 |
| BPGM | Controls 2,3 DPG level | 12.8 | 17.99 | 32.6 | 403.8 | 3106 | 396 | 0.128 | |
| FCH | Heme synthesis | 60.9 | 71.13 | 105 | 270 | 473.1 | 69.28 | 0.146 | |
| HMBS | Heme biosynthesis | 163 | 309.4 | 614 | 1402 | 2685 | 449 | 0.167 | |
| CPOX† | Heme synthesis | 81.7 | 110.4 | 189 | 381.4 | 217.8 | 9.80 | 0.03 | |
| HEMGN† | Hemogenin | 101 | 243.6 | 542 | 1139 | 545.3 | 69.76 | 0.06 | |
| Category 5: Cell signaling molecules or enzymes | |||||||||
| SRGAP2C | Slit-Robo GTPase-activating protein | 1.57 | 2.49 | 5.55 | 32.15 | 57.5 | 0.46 | 0.008 | |
| B3GNT8 | A glucosyl transferase | 0.10 | 0.12 | 0.35 | 8.13 | 236.1 | 3.92 | 0.017 | |
| FBXO30 | Fbxw7, ubiquitin ligase | 4.48 | 4.11 | 5.70 | 102.2 | 581.3 | 10.17 | 0.017 | 86 |
| SORD | Sorbitol dehydrogenase | 23 | 16.6 | 8.74 | 1.86 | 44.3 | 1.05 | 0.024 | |
| FHDC1 | FH2 domain–containing 1 | 4.89 | 13.4 | 36.12 | 189.5 | 532.2 | 13.43 | 0.025 | |
| MSMO1 | Mono-oxygenase | 19.1 | 15.2 | 14.00 | 49.47 | 225.1 | 5.84 | 0.026 | |
| MOB1B | MOB kinase | 13.6 | 17.7 | 29.44 | 152.6 | 358.4 | 9.50 | 0.027 | |
| HES6 | Hairy enhancer of split | 93.1 | 176 | 276.9 | 382.5 | 201.6 | 6.54 | 0.032 | |
| PLEK2 | Pleckstrin 2 | 1.38 | 2.63 | 4.21 | 122.1 | 482.4 | 16.65 | 0.035 | 87 |
| DYRK3 | Kinase in stress erythropoiesis | 16.1 | 14.8 | 13.14 | 41.77 | 235.8 | 11.85 | 0.050 | 63 |
| RAPGEF2 | Rap guanine nucleotide exchange | 8.90 | 9.73 | 13.01 | 97.57 | 415.2 | 37.22 | 0.090 | 88 |
| PIGQ | phosphatidylinositol biogenesis | 39.3 | 60.2 | 99.13 | 135.9 | 163.7 | 24.95 | 0.152 | |
| BMP2K | BMP2-inducible kinase | 27.3 | 30.6 | 41.93 | 139.6 | 261.9 | 13.99 | 0.053 | |
| EPOR | Erythropoietin receptor | 58.1 | 73.9 | 101.3 | 200.3 | 204.1 | 12.33 | 0.060 | 89,90 |
| RAP1GAP | RAP1-specific GAP | 7.96 | 14.9 | 44.70 | 469 | 444.6 | 32.15 | 0.072 | |
| MAST3 | Microtubule S/T kinase | 3.22 | 4.50 | 7.57 | 43.14 | 256.3 | 18.57 | 0.072 | |
| AIDA | Axin inhibitor | 34.1 | 35.4 | 43.33 | 92.56 | 83.54 | 6.19 | 0.074 | |
| PIK3R2 | PI3K regulatory unit 2 | 27.1 | 34.2 | 45.64 | 60.38 | 286.0 | 33.17 | 0.116 | 61 |
| PBK† | PDZ-containing kinase | 16.9 | 22.3 | 35.32 | 47.76 | 7.50 | 0.13 | 0.001 | |
| PKDCC† | Cytoplasmic kinase | 3.78 | 6.31 | 11.13 | 34.68 | 15.44 | 0.18 | 0.01 | |
| Category 6: Transcription factors and nuclear proteins | |||||||||
| NSUN3 | NOP2/Sun, RNA methyltransferase | 2.02 | 2.45 | 2.55 | 22.41 | 264.7 | 9.61 | 0.036 | |
| BEX1 | LMO2 interaction | 9.09 | 8.04 | 7.47 | 28.08 | 38.34 | 1.60 | 0.042 | 91 |
| AFF1 | pTEFb interaction, elongation | 12.2 | 14.3 | 20.88 | 88.14 | 303.3 | 13.74 | 0.045 | |
| TAL1 | SCL, essential erythroid transcription factor | 44.8 | 58.9 | 93.64 | 275.6 | 382.1 | 19.15 | 0.050 | 92,93 |
| SSSCA1 | Sjögren Ag | 32.3 | 35.3 | 32.51 | 27.88 | 108.9 | 6.54 | 0.060 | |
| CTBP2 | Corepressor–binds KLF3 | 21.3 | 22.8 | 28.26 | 48.47 | 109.9 | 6.99 | 0.064 | 59 |
| FOXO3 | Antiapoptosis transcription factor | 4.91 | 6.74 | 13.47 | 141.5 | 468.1 | 35.67 | 0.076 | 58 |
| USP12 | Coactivator of transcription | 10.7 | 11.6 | 17.04 | 95.48 | 279.2 | 22.11 | 0.079 | |
| MBNL2 | Muscleblind-2–splicing factor | 3.62 | 5.67 | 14.56 | 86.09 | 140.5 | 11.27 | 0.080 | 94 |
| TCEANC | TF IIS–basal transcription | 1.19 | 1.65 | 2.97 | 23.53 | 104.9 | 8.45 | 0.081 | |
| ELF3 | Ets family transcription factor | 0.00 | 0.01 | 0.01 | 2.11 | 53.09 | 4.70 | 0.088 | |
| SOX6 | Essential transcription factor for erythropoiesis | 1.17 | 4.00 | 13.58 | 36.75 | 31.83 | 3.63 | 0.114 | 75,76,95 |
| ARID3A | Regulates transcription | 4.84 | 4.64 | 6.12 | 62.87 | 159.3 | 19.08 | 0.120 | 96 |
| EGR1 | Krox-24/Zif268 transcription factor | 1.00 | 3.87 | 8.80 | 59.25 | 75.43 | 9.67 | 0.128 | |
| SF3B3 | Splicing factor | 24.6 | 25.1 | 20.67 | 16.88 | 84.92 | 17.76 | 0.209 | |
| KLF1 | Decreased by RNA decay | 204 | 244 | 338.8 | 813.5 | 1446 | 397 | 0.275 | |
| GATA1 | Erythroid transcription factor | 123 | 137 | 174.4 | 238.4 | 391.4 | 118 | 0.301 | |
| Category 7: Other classes | |||||||||
| TSKU | Tsukushi, Wnt, and BMP inhibitors | 3.35 | 4.22 | 6.09 | 19.76 | 31.25 | 0.09 | 0.003 | 97,98 |
| IGF2 | Insulin-like growth factor | 0.11 | 1.13 | 6.33 | 7.46 | 44.91 | 0.14 | 0.003 | |
| GDF15 | Stress erythropoiesis | 1.44 | 5.92 | 28.3 | 1071 | 2982 | 9.54 | 0.003 | 99 |
| NUDT4P1 | Nudix domain hydrolase | 30.9 | 52.8 | 124 | 753.4 | 2082 | 26.6 | 0.013 | |
| ARG2 | Arginase | 2.38 | 4.70 | 19.1 | 368.8 | 443.7 | 5.24 | 0.012 | |
| RSC1A1 | Overlaps DDI2 (see below) | 20.2 | 20.41 | 20.7 | 59.27 | 132.5 | 2.07 | 0.016 | |
| TUFT1 | Tuftelin 1 | 0.41 | 0.54 | 1.00 | 36.00 | 148.1 | 5.45 | 0.037 | |
| DDI2 | DNA-damage inducible 1 homolog 2 | 14.4 | 15.73 | 16.6 | 46.44 | 107.1 | 9.38 | 0.088 | |
| TRIM58 | GATA1 target gene | 20.5 | 19.88 | 21.9 | 277.1 | 2189 | 337 | 0.154 | 81 |
| FCHO2 | Endocytosis | 6.83 | 7.91 | 13.2 | 42.48 | 62.18 | 2.85 | 0.046 | |
| LNX2 | Ligand of numb | 3.94 | 3.43 | 3.74 | 19.76 | 82.31 | 4.10 | 0.050 | |
| TSPAN5 | Tetraspanin 5 | 11.1 | 14.93 | 26.3 | 132.3 | 521.7 | 34.0 | 0.065 | |
| DCUN1D1 | SSCRO–Neddylation E3 | 21.4 | 23.94 | 33.8 | 138.7 | 176.7 | 12.13 | 0.069 | |
| KIAA0232 | Unknown Fx | 2.76 | 3.48 | 5.72 | 59.64 | 241.6 | 19.86 | 0.082 | |
| ATG4D | Autophagy, cleaved by caspase 3 | 8.75 | 13.07 | 23.0 | 78.49 | 197.1 | 21.62 | 0.110 | 100,101 |
| AMBRA1 | Autophagy, interacts with ULK1 | 7.77 | 7.68 | 8.62 | 40.74 | 180.4 | 20.35 | 0.113 | 66 |
| BBC3 | BH3-only protein PUMA, BAK activator | 6.21 | 8.91 | 16.8 | 83.31 | 170.6 | 20.82 | 0.122 | 102 |
| ULK1 | ATG1–autophagy | 3.39 | 4.78 | 9.29 | 70.24 | 192.3 | 24.89 | 0.129 | 103 |
| STX2† | Syntaxin 2 | 10.7 | 15.51 | 26.3 | 59.98 | 35.38 | 2.64 | 0.04 | |
Selected curated sublists of genes (FPKM >30) derived from the full set of KLF1-differentially expressed genes (supplemental Tables 1-3), sorted according to function or subcellular localization and ranked by fold change in each group relative to orthochromatic normoblasts (from Cluster 1) or polychromatic normoblasts (from Cluster 2; also differentiated below in the second footnote). TF, transcription factor.
Categories based on gene ontology (GO) classification and manual curation.
Genes downregulated in the proband vs the polychromatic erythroblast (from Cluster 2).
Additional table references appear in the supplemental Data.