Table 1 Genes and microRNAs in the region deleted in the patient in this report and Salahshourifar et al. 2011
From: De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus
OMIM gene | RefSeq genes | Gene name | HI index+ |
|---|---|---|---|
Yes | CR1L | CR-1 like 3b/4b binding protein | 89 |
Yes | CD46* | CD46 antigen, complement regulatory protein | 79 |
No | AK123177 | Homo sapiens cDNA FLJ41182 fis, clone BRACE2043349 | - |
- | MIR29C | microRNA29C | - |
- | MIR29B2 | MIR29B2 microRNAB2 | - |
No | LOC148696 | Hypothetical gene – non-coding RNA | - |
Yes | CD34 | CD34 antigen isoform b | 96 |
Yes | PLXNA2 | Plexin A2 | 26 |
No | ATP5G2P1 | Hypothetical protein LOC642587 | - |
- | MIR205 | microRNA205 | - |
Yes | CAMK1G | Calcium/calmodulin-dependent protein kinase IG | 25 |
Yes | LAMB3* | Laminin, beta 3 precursor | 79 |
- | MIR4260 | MicroRNA 4260 | - |
Yes | G0S2 | G0/G1switch 2 | 78 |
Yes | HSD11B1* | 11-beta-hydroxysteroid dehydrogenase 1 | 28 |
Yes | TRAF3IP3 | TRAF3-interacting JNK-activating modulator | 42 |
No | C1orf74 | Chromosome 1 open reading frame 74; hypothetical protein LOC148304 | 68 |
Yes | IRF6* | Interferon regulatory factor 6 | 8 |
No | DIEXF | C1orf107; (digestive-organ expansion factor homolog) | 30 |
Yes | SYT14* | Synaptotagmin XIV | 65 |
No | C1orf 133 | SERTAD4 antisense RNA 1 (SERTAD4-AS1) | - |
No | SERTAD4 | SERTA domain containing 4 | 60 |
Yes | HHAT | Hedgehog acyltransferase | 78 |
Yes | KCNH1 | Potassium voltage-gated channel, subfamily H (eag-related), member 1 | 16 |
No | CR621662 | Full-length cDNA clone CS0DJ006YN03 of T cells | - |
No | RCOR3 | REST corepressor 3 isoform d | 16 |
No | KIAA1343 | Homo sapiens mRNA for KIAA1343 protein, partial cds | - |
Yes | TRAF5 | TNF receptor-associated factor 5 | 86 |
No | BC005997 | Homo sapiens cDNA FLJ27347 | - |
No | LINC00467 | C1orf97;Homo sapiens long intergenic non-protein coding RNA 467 | 94 |
Yes | RD3* | Retinal degeneration 3 | 39 |
Yes | SLC30A1 | Solute carrier family 30 (zinc transporter) member 1 | 23 |
No | CR605189 | Full-length cDNA clone CS0DK012YI08 of HeLa cells | - |
Yes | NEK2 | NIMA-related kinase 2 | 5 |
Yes | LPGAT1 | Lysophosphatidylglycerol acyltransferase 1 | 47 |
Yes | INTS7 | Integrator complex subunit 7 | 23 |
Yes | DTL | Denticleless homolog | 9 |
- | MIR3122 | Homo sapiens microRNA 3122 | - |
Yes | PPP2R5A | Protein phosphatase 2, regulatory subunit B | 10 |
No | FKSG56 | Homo sapiens FKSG56 (FKSG56) mRNA | - |
No | SNORA16B | Homo sapiens small nucleolar RNA, H/ACA box 16B | - |
No | TMEM206 | Transmembrane protein 206 | 78 |
Yes | NENF | Neuron derived neurotrophic factor precursor | 68 |