Table 2. BrainSpan Module Membership of 22q11.2 Genes.
The 38 22q11.2 genes indexed in BrainSpan are annotated by module assignment, Kme score (i.e., correlation with parent module eigengene) and pLI score (i.e., loss-of-function function intolerance; bolded text indicates predicted pLI gene).
| Module | Gene | Definition | kME Score | pLI Score |
|---|---|---|---|---|
| M1 | ZNF74 | zinc finger protein 74 | 0.84 | 0.0004 |
| DGCR8 | DGCR8, microprocessor complex subunit | 0.76 | 0.9999 | |
| SLC25A1 | solute carrier family 25 member 1 | 0.75 | 0.6335 | |
| ARVCF | armadillo repeat gene deleted in velocardiofacial syndrome | 0.67 | 0.0000 | |
| CLTCL1 | clathrin heavy chain like 1 | 0.61 | 0.0000 | |
| KLHL22 | kelch like family member 22 | 0.56 | 0.7026 | |
| TMEM191A | transmembrane protein 191A | 0.18 | NA | |
| SCARF2 | scavenger receptor class F member 2 | 0.01 | NA | |
| M2 | CRKL | v-crk avian sarcoma virus CT10 oncogene homolog-like | 0.51 | 0.1635 |
| M3 | CDC45 | cell division cycle 45 | 0.78 | 0.0691 |
| M6 | MRPL40 | mitochondrial ribosomal protein L40 | 0.78 | 0.0201 |
| ESS2 | DiGeorge syndrome critical region gene 14 | 0.75 | 0.0000 | |
| M7 | UFD1 | ubiquitin recognition factor in ER associated degradation 1 | 0.80 | 0.9974 |
| SNAP29 | synaptosome associated protein 29 | 0.75 | 0.1517 | |
| HIRA | histone cell cycle regulator | 0.64 | 1.0000 | |
| RTL10 | retrotransposon Gag like 10 | 0.55 | 0.0000 | |
| TRMT2A | tRNA methyltransferase 2 homolog A | 0.35 | 0.0000 | |
| THAP7 | THAP domain containing 7 | 0.21 | 0.0293 | |
| DGCR2 | DiGeorge syndrome critical region gene 2 | 0.17 | 0.0011 | |
| M10 | AIFM3 | apoptosis-inducing factor, mitochondrionassociated, 3 | 0.94 | 0.0000 |
| P2RX6 | purinergic receptor P2X, ligand-gated ion channel, 6 | 0.80 | 0.0000 | |
| M11 | PRODH | proline dehydrogenase (oxidase) 1 | 0.86 | 0.0000 |
| ZDHHC8 | zinc finger, DHHC-type containing 8 | 0.76 | 0.9890 | |
| COMT | catechol-O-methyltransferase | 0.63 | 0.0008 | |
| TXNRD2 | thioredoxin reductase 2 | 0.59 | 0.0000 | |
| SERPIND1 | serpin peptidase inhibitor, clade D (heparin cofactor), member 1 | 0.42 | 0.0000 | |
| C22orf39 | chromosome 22 open reading frame 39 | 0.24 | 0.0000 | |
| DGCR6L | DiGeorge syndrome critical region gene 6-like | 0.17 | 0.1286 | |
| GSC2 | goosecoid homeobox 2 | 0.15 | 0.0372 | |
| M14^ | SEPT5 | septin 5 | 0.80 | 0.9146 |
| M15^ | PI4KA | phosphatidylinositol 4-kinase alpha | 0.88 | 0.0008 |
| TANGO2 | transport and golgi organization 2 homolog | 0.82 | 0.0000 | |
| SLC7A4 | solute carrier family 7 member 4 | 0.72 | 0.0001 | |
| RTN4R | reticulon 4 receptor | 0.57 | 0.5264 | |
| MED15 | mediator complex subunit 15 | 0.38 | 0.9610 | |
| LZTR1 | leucine zipper like transcription regulator 1 | 0.25 | 0.0000 | |
| M18 | CLDN5 | claudin 5 | 0.43 | 0.7405 |
| TSSK2 | testis-specific serine kinase 2 | 0.38 | 0.0042 | |
^
Module enriched for neuronal cell-type markers.