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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
  1. *OMIM morbid genes classified as Disease-causing as displayed on UCSC Genome Browser [5].
  2. +From DECIPHER database [6].
  3. The deletion for the patient in this report is from CR1L to SYT14 while the deletion for the patient in Salahshourifar et al. is from CAMK1G to NENF.