Table 2 Significantly differentially expressed genes on 5q in lymphoblasts between proband and healthy sibling.
| Illumina | Symbol | Cytogenetic | Physical | Proband | Healthy sibling | Fold | Difference | Annotation | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Target ID | Location | Location | Signal | Detection | No of beads | Signal | Detection | No of beads | Change | Score | ||
| Underexpressed | ||||||||||||
| hmm14202‐S | hmm14202 | 5q33.2 | 154222612 | 144.169 | 1.000 | 49 | 379.123 | 1.000 | 56 | −2.630 | −168.06 | Gnomon gene hmm14202 , RefSeq build 34 |
| GI_14149707‐S | DKFZP434C171 | 5q33.1 | 150589673 | 121.253 | 1.000 | 35 | 345.129 | 1.000 | 43 | −2.846 | −141.58 | CCDC69, coiled‐coil domain containing 69 |
| GI_39725633‐S | LARP | 5q33.2 | 154222684 | 433.539 | 1.000 | 49 | 862.232 | 1.000 | 44 | −1.989 | −114.77 | LARP1, La ribonucleoprotein domain family, member 1 |
| GI_39725635‐S | HSGP25L2G | 5q35.3 | 176955409 | 525.007 | 1.000 | 42 | 847.703 | 1.000 | 39 | −1.615 | −57.21 | TMED9, transmembrane emp24 protein transport domain containing 9 |
| GI_24496788‐S | LARS | 5q32 | 145474004 | 197.888 | 1.000 | 43 | 329.888 | 1.000 | 37 | −1.667 | −46.50 | leucyl‐tRNA synthetase |
| GI_24307954‐S | CYFIP2 | 5q33.3 | 156800925 | 214.585 | 1.000 | 33 | 319.939 | 1.000 | 35 | −1.491 | −28.30 | cytoplasmic FMR1 interacting protein 2 |
| GI_31543450‐S | PX19 | 5q35.3 | 176714602 | 392.535 | 1.000 | 49 | 507.164 | 1.000 | 67 | −1.292 | −24.76 | px19‐like protein |
| GI_4507410‐S | TCOF1 | 5q32 | 149759852 | 206.366 | 1.000 | 58 | 277.2 | 1.000 | 38 | −1.343 | −20.10 | Treacher Collins–Franceschetti syndrome 1 |
| Overexpressed | ||||||||||||
| GI_39995108‐S | GM2A | 5q33.1 | 150676586 | 196.253 | 1.000 | 52 | 132.58 | 1.000 | 42 | 1.480 | 25.29 | GM2A ganglioside activator protein |
| GI_21265039‐S | MRPL22 | 5q33.2 | 154326620 | 1506.14 | 1.000 | 40 | 1124.47 | 1.000 | 36 | 1.339 | 25.73 | Mitochondrial ribosomal protein L22, nuclear gene encoding mitochondrial protein |
| Hs.496717‐S | Hs.496717 | 5q33.1 | 151125780 | 7490.2 | 1.000 | 45 | 5659.35 | 1.000 | 37 | 1.324 | 27.46 | Similar to ribosomal protein P1 isoform 2 |
| GI_20127554‐S | HSPC111 | 5q35.2 | 175791909 | 1417.24 | 1.000 | 35 | 988.662 | 1.000 | 26 | 1.433 | 30.24 | Hypothetical protein HSPC111 |
| GI_34147516‐S | CSNK1A1 | 5q32 | 148856027 | 948.412 | 1.000 | 60 | 706.733 | 1.000 | 40 | 1.342 | 31.38 | Casein kinase 1, α‐1, down regulated in lung cancer |
| GI_29789057‐S | KIBRA | 5q34 | 167829133 | 105.969 | 1.000 | 28 | 43.3489 | 0.999 | 34 | 2.445 | 32.06 | WWC1, WW, C2 and coiled‐coil domain containing 1 |
| GI_22748634‐S | DC‐UbP | 5q35.1 | 171619676 | 145.868 | 1.000 | 36 | 76.826 | 1.000 | 53 | 1.899 | 34.46 | Dendritic cell‐derived ubiquitin‐like protein |
| GI_40556270‐S | LOC134492 | 5q34 | 162816525 | 505.192 | 1.000 | 38 | 327.936 | 1.000 | 55 | 1.541 | 42.45 | NUDCD2, NudC domain containing 2 |
| GI_17017971‐S | RPL26L1 | 5q35.1 | 172329153 | 1684.97 | 1.000 | 42 | 1151.58 | 1.000 | 51 | 1.463 | 44.74 | Ribosomal protein L26‐like 1 |
| GI_14141191‐S | RPS14 | 5q33.1 | 149804023 | 30972.8 | 1.000 | 33 | 20026.4 | 1.000 | 46 | 1.547 | 49.66 | Ribosomal protein S14 |
| GI_16915933‐A | MGAT4B | 5q35 | 179334400 | 533.294 | 1.000 | 44 | 326.404 | 1.000 | 33 | 1.634 | 51.55 | Mannosyl (α‐1,3‐)‐glycoprotein β‐1,4‐N‐acetylglucosaminyltransferase, isozyme B |
| GI_21450801‐S | MGC10067 | 5q33.3 | 158645113 | 550.432 | 1.000 | 47 | 343.021 | 1.000 | 35 | 1.605 | 51.67 | UBLCP1, ubiquitin‐like domain containing CTD phosphatase 1 |
| GI_25777641‐S | KCNMB1 | 5q34 | 169786227 | 106.822 | 1.000 | 37 | 25.7527 | 0.998 | 40 | 4.148 | 59.49 | Potassium large conductance calcium‐activated channel, subfamily M, β‐member 1 |
| GI_14150170‐S | THOC3 | 5q35.2 | 175319143 | 1574.46 | 1.000 | 31 | 912.292 | 1.000 | 37 | 1.726 | 59.93 | THO complex 3, part of the TREX (transcription/export) complex |
| GI_32307118‐I | PPP2R2B | 5q32 | 145949261 | 606.349 | 1.000 | 42 | 348.06 | 1.000 | 39 | 1.742 | 65.73 | Protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), β‐isoform |
| GI_40805830‐S | CCNG1 | 5q34 | 162802038 | 508.454 | 1.000 | 40 | 283.965 | 1.000 | 49 | 1.791 | 67.94 | Cyclin G1 |
| GI_29826339‐S | ATOX1 | 5q32 | 151159780 | 1843.69 | 1.000 | 29 | 950.039 | 1.000 | 29 | 1.941 | 74.55 | ATX1 anti‐oxidant protein 1 homologue (yeast) |
| GI_4507170‐S | SPARC | 5q33.1 | 151022286 | 3176.92 | 1.000 | 33 | 1723.67 | 1.000 | 47 | 1.843 | 81.10 | Secreted protein, acidic, cysteine‐rich (osteonectin) |
| GI_18426914‐A | DBN1 | 5q35.3 | 176816524 | 584.067 | 1.000 | 38 | 263.163 | 1.000 | 50 | 2.219 | 107.94 | Drebrin 1, believed to have a role in the process of neuronal growth, developmentally regulated in the bra |
| GI_19923904‐S | LOC91937 | 5q33.3 | 156281699 | 471.602 | 1.000 | 25 | 26.5572 | 0.998 | 29 | 17.758 | 217.64 | TIMD4, T cell immunoglobulin and mucin domain containing 4 |
| GI_21314757‐S | HAVCR2 | 5q33.3 | 156493786 | 563.495 | 1.000 | 46 | 58.8923 | 1.000 | 36 | 9.568 | 355.85 | Hepatitis A virus cellular receptor 2, T cell immunoglobulin and mucin domain containing molecule |
| Genes of interest | ||||||||||||
| GI_37537713‐S | ENTH | 5q33.3 | 157146388 | 468.188 | 1.000 | 26 | 405.09 | 1.000 | 19 | NA | −5.33 | Enthoprotin (ENTH), Epsin 4 |
| GI_12548784‐I | GABRB2 | 5q34 | 160734293 | −0.754852 | 0.465 | 32 | 5.32896 | 0.740 | 24 | NA | 1.95 | γ‐aminobutyric acid (GABA) A receptor, β‐2 (GABRB2), transcript variant 1 |
| GI_4557606‐S | GABRA6 | 5q34 | 161109522 | 1.1762 | 0.571 | 39 | −7.31738 | 0.205 | 49 | NA | −3.20 | GABA A receptor, α‐6 (GABRA6) |
| GI_38327553‐S | GABRA1 | 5q34 | 161258878 | 6.98615 | 0.850 | 44 | 10.1125 | 0.850 | 23 | NA | 0.90 | GABA A receptor, α‐1 (GABRA1) |
| GI_38788154‐I | GABRG2 | 5q34 | 161514428 | 4.25694 | 0.740 | 26 | −7.16618 | 0.208 | 33 | NA | −4.44 | GABA A receptor, γ‐2 (GABRG2), transcript variant 1 |
| GI_38788134‐A | GABRG2 | 5q34 | 161561210 | −8.07671 | 0.109 | 24 | −6.70604 | 0.218 | 36 | NA | 0.41 | GABA A receptor, GABRG2, transcript variant 2 |
| GI_7657105‐S | GABRP | 5q35.1 | 170221412 | 3.16486 | 0.692 | 50 | −7.51971 | 0.199 | 52 | NA | −4.33 | GABA A receptor, π‐(GABRP) |
GABA, γ‐aminobutyric acid; ENTH, enthoprotin.