Table 2 Genes present in the 6p25.3 deleted region and 6p25.3p25.2 duplicated region
From: Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin
Gene | Description | Gene type | %HI | Imprinting status | Known syndromes/diseases | ID of OMIM |
|---|---|---|---|---|---|---|
Genes present in the 6p25.3 deleted region | ||||||
DUSP22 | dual specificity phosphatase 22 | PC | 38.68 | NA | NA | 616778 |
IRF4 | interferon regulatory factor 4 | PC | 19.27 | NA | Skin/hair/eye pigmentation, variation in, 8 | 601900 |
EXOC2 | exocyst complex component 2 | PC | 34.26 | NA | NA | 615329 |
HUS1B | HUS1 checkpoint clamp component B | PC | 97.37 | NA | NA | 609713 |
Genes present in the 6p25.3p25.2 duplicated region | ||||||
BPHL | biphenyl hydrolase like | PC | 69.92 | NA | NA | 616778 |
LINC01600 | long intergenic non-protein coding RNA 1600 | ncRNA | 99.38 | NA | NA | NA |
C6orf201 | chromosome 6 open reading frame 201 | PC | 90.99 | NA | NA | NA |
ECI2 | enoyl-CoA delta isomerase 2 | PC | 64.53 | NA | NA | 608024 |
FAM217A | family with sequence similarity 217 member A | PC | 71.39 | NA | NA | NA |
FAM50B | family with sequence similarity 50 member B | PC | 73.35 | Imprinted (Paternal) | NA | 614686 |
FOXC1 | forkhead box C1 | PC | 9.01 | NA | Anterior segment dysgenesis 3, multiple subtypes, AD; Axenfeld-Rieger syndrome, type 3, AD | 601090 |
FOXF2 | forkhead box F2 | PC | 29.64 | NA | NA | 603250 |
FOXQ1 | forkhead box Q1 | PC | 74.58 | NA | NA | 612788 |
GMDS | GDP-mannose 4,6-dehydratase | PC | 3.84 | NA | NA | 602884 |
MYLK4 | myosin light chain kinase family member 4 | PC | 57.67 | NA | NA | NA |
NQO2 | N-ribosyldihydronicotinamide: quinone reductase 2 | PC | 69.72 | NA | Breast cancer susceptibility | 160998 |
PRPF4B | pre-mRNA processing factor 4B | PC | 3.38 | NA | NA | 602338 |
PSMG4 | proteasome assembly chaperone 4 | PC | 70.84 | NA | NA | 617550 |
PXDC1 | PX domain containing 1 | PC | 64.96 | Imprinted (Paternal) | NA | NA |
RIPK1 | receptor interacting serine/threonine kinase 1 | PC | 52.24 | NA | Autoinflammation with episodic fever and lymphadenopathy, AD; | 603453 |
SERPINB1 | serpin family B member 1 | PC | 35.07 | NA | Immunodeficiency 57 with autoinflammation, AR | 130135 |
SERPINB6 | serpin family B member 6 | PC | 69 | NA | NA | 173321 |
SERPINB9 | serpin family B member 9 | PC | 88.04 | NA | ?Deafness, autosomal recessive 91,AR | 601799 |
SLC22A23 | solute carrier family 22-member 23 | PC | 50.77 | NA | NA | 611697 |
TUBB2A | tubulin beta 2A class IIa | PC | 20.26 | NA | NA | 615101 |
TUBB2B | tubulin beta 2B class IIb | PC | 24.97 | NA | Cortical dysplasia, complex, with other brain malformations 5, AD | 612850 |
WRNIP1 | WRN helicase interacting protein 1 | PC | 36.94 | NA | Cortical dysplasia, complex, with other brain malformations 7, AD | 608196 |