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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) | 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. 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 | 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) | It was shown that the critical region lost in two patients with the 5q- syndrome resides between 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). 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. 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. | 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 | Expression of the human c-fms proto-oncogene in hematopoietic cells and its deletion in the 5q- syndrome. Deletion of c-fms sequences 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. 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. 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). Homozygous deletion of FMS in a patient with the 5q- syndrome. | Human | ATOX1 | 475 | antioxidant 1 copper chaperone | 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. 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. |
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