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Genes (12)
Species: human : 12 | |
| Human | G3BP1 | 10146 | GTPase activating protein (SH3 domain) binding protein 1 | A number of the genes assigned to the CDR represent good candidates for the 5q- syndrome, including MEGF1, G3BP, and several of the novel gene predictions. A number of the genes assigned to the CDR represent good candidates for the 5q- syndrome, including MEGF1, G3BP, and several of the novel gene predictions. | | Human | SPARC | 6678 | secreted protein, acidic, cysteine-rich (osteonectin) | The common region of loss in these three 5q- syndrome patients includes the macrophage colony-stimulating factor-1 receptor (CSF1R), secreted protein, acidic, cysteine-rich (SPARC), and glutamate receptor (GR1A1) genes. Physical mapping of the human ATX1 homologue (HAH1) to the critical region of the 5q- syndrome within 5q32, and immediately adjacent to the SPARC gene. | | Human | RPS14 | 6208 | ribosomal protein S14 | low expression of RPS14 is not due to promoter hypermethylation, further supporting the haploinsufficiency model suggested by Ebert et al4 for the 5q- syndrome results indicate that the 5q- syndrome is caused by a defect in RPS14 ribosomal protein function | | Human | PCNA | 5111 | proliferating cell nuclear antigen | High expression of ERCC1, FLT1, NME4 and PCNA in myelodysplastic syndrome was associated with poor prognosis and disease progression along the sequence of 5q-syndrome/RCMD/RAEB/de novo AML | | Human | NME4 | 4833 | NME/NM23 nucleoside diphosphate kinase 4 | High expression of ERCC1, FLT1, NME4 and PCNA in myelodysplastic syndrome was associated with poor prognosis and disease progression along the sequence of 5q-syndrome/RCMD/RAEB/de novo AML | | Human | JAK2 | 3717 | Janus kinase 2 | JAK2 V617F mutation was detected in a cohort of patients with 5q- syndrome and a hypercellular marrow | | Human | GLRA1 | 2741 | glycine receptor, alpha 1 | We describe the narrowing of the common deleted region (CDR) of the 5q- syndrome to the approximately 1.5-megabases interval at 5q32 flanked by D5S413 and the GLRA1 gene. | | Human | FLT1 | 2321 | fms-related tyrosine kinase 1 | High expression of ERCC1, FLT1, NME4 and PCNA in myelodysplastic syndrome was associated with poor prognosis and disease progression along the sequence of 5q-syndrome/RCMD/RAEB/de novo AML | | Human | FGF1 | 2246 | fibroblast growth factor 1 (acidic) | Using molecular mapping techniques, we have previously defined the critical region of gene loss of the 5q- chromosome in the 5q- syndrome as the approximately 5-Mb region at 5q31-q33 flanked by the genes for FGF1 and IL12B. We have previously delineated a common deleted region of 5.6 Mb between the gene for fibroblast growth factor acidic (FGF1) and the subunit of interleukin 12 (IL12B) in two patients with 5q- syndrome and small deletions, del(5)(q31q33). This study has established the critical region of gene loss of the 5q- chromosome in the 5q- syndrome, giving the location for a putative tumor-suppressor gene in the 5.6-Mb region between FGFA and NKSF1. It was shown that the critical region lost in two patients with the 5q- syndrome resides between FGF1 and IL12B. | | Human | ERCC1 | 2067 | excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) | High expression of ERCC1, FLT1, NME4 and PCNA in myelodysplastic syndrome was associated with poor prognosis and disease progression along the sequence of 5q-syndrome/RCMD/RAEB/de novo AML | | Human | CSF1R | 1436 | colony stimulating factor 1 receptor | Deletion of c-fms sequences in the 5q- syndrome. Homozygous deletion of FMS in a patient with the 5q- syndrome. Expression of the human c-fms proto-oncogene in hematopoietic cells and its deletion in the 5q- syndrome. Moreover, homozygous deletion of the FMS gene may be an important event in the genesis of the MDS variant 5q- syndrome. Allelic loss of the FMS gene occurs in patients with refractory anaemia and the 5q- syndrome associated with the myelodysplastic syndromes. Southern blot analyses demonstrated hemizygosity of c-fms sequences in three cases of the 5q- syndrome, cytogenetically characterized by del(5)(q13;q35) or del(5)(q31;q35). The common region of loss in these three 5q- syndrome patients includes the macrophage colony-stimulating factor-1 receptor (CSF1R), secreted protein, acidic, cysteine-rich (SPARC), and glutamate receptor (GR1A1) genes. | | Human | ATOX1 | 475 | antioxidant 1 copper chaperone | Physical mapping of the human ATX1 homologue (HAH1) to the critical region of the 5q- syndrome within 5q32, and immediately adjacent to the SPARC gene. Fine physical mapping of the HAH1 gene within this genomic interval was then performed by screening YAC and BAC contigs spanning the critical region of the 5q- syndrome using PCR amplification. |
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