Debug Stats | ### Total Build Time: 30 ms 36.412 KB CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 336 bytesCONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytesCONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 325 bytes- Skipping details on:
CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes - Skipping details on:
CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 187 bytes- Skipping details on:
CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 547 bytesCONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytesCONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 1.496 KBCONCEPT_RELATIONSHIPS gt=11 ms Completed: 11 ms rowSize= 15.534 KBCONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 16.831 KBCONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.153 KBCONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes- Reload Stats
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Relationships (41)
Relation Types: diso_to_anat : 15 diso_to_chem : 7 diso_to_diso : 17 diso_to_phen : 2
Relationships: none : 11 gene_product_malfunction_associated_with_disease : 1 is_abnormal_cell_of_disease : 8 is_finding_of_disease : 4 is_normal_cell_origin_of_disease : 2 is_normal_tissue_origin_of_disease : 2 is_not_finding_of_disease : 3 is_not_normal_cell_origin_of_disease : 2 is_not_normal_tissue_origin_of_disease : 1 isa : 1 may_be_cytogenetic_abnormality_of_disease : 2 may_be_finding_of_disease : 1 may_be_molecular_abnormality_of_disease : 2 permuted_term_of : 1 | |
DISO_to_DISO | 31 | |
Soft Tissue Neoplasms C0037579 | DISO_to_DISO | 27 | |
Soft Tissue Neoplasms C0037579 | DISO_to_PHEN | 27 | |
genetic aspects C0017399 | DISO_to_PHEN | 21 | |
genetic aspects C0017399 | DISO_to_CHEM | 11 | |
Transcription Factor CHOP C0287750 | DISO_to_CHEM | 10 | |
RNA-Binding Protein FUS C0950472 | DISO_to_CHEM | 9 | |
1,2,3,4-Tetrahydroisoquinolines C0259969 | DISO_to_CHEM | 9 | |
Chimeric Oncogene Proteins C0029014 | DISO_to_CHEM | 9 | |
Dioxole C0012505 | DISO_to_CHEM | 8 | |
Binding Protein, CAAT-Enhancer C0108685 | DISO_to_DISO | 8 | |
Liposarcoma C0023827 | DISO_to_ANAT | | is_normal_cell_origin_of_disease |
Adipocyte C0206131 | DISO_to_ANAT | | is_normal_tissue_origin_of_disease |
Adipose Tissue C0001527 | DISO_to_ANAT | | is_abnormal_cell_of_disease |
Cancer Cell C0334227 | DISO_to_ANAT | | is_normal_cell_origin_of_disease |
Cell of connective tissue C0009781 | DISO_to_ANAT | | is_normal_tissue_origin_of_disease |
Connective and Soft Tissue C1516798 | DISO_to_ANAT | | is_not_normal_cell_origin_of_disease |
Epithelial Cells C0014597 | DISO_to_ANAT | | is_not_normal_tissue_origin_of_disease |
Epithelial Tissue C0014609 | DISO_to_ANAT | | is_abnormal_cell_of_disease |
Malignant Lipocyte C1708888 | DISO_to_ANAT | | is_abnormal_cell_of_disease |
Neoplastic Cell C0597032 | DISO_to_ANAT | | is_abnormal_cell_of_disease |
Neoplastic Connective and Soft Tissue Cell C1513942 | DISO_to_ANAT | | is_abnormal_cell_of_disease |
Neoplastic Lipocyte C1709184 | DISO_to_ANAT | | is_not_normal_cell_origin_of_disease |
Nerve Cell, Neuroepithelial Cell, and Supporting Cell of the Nervous System C1518293 | DISO_to_ANAT | | is_abnormal_cell_of_disease |
Primitive Mesenchymal Cell C1514435 | DISO_to_ANAT | | is_abnormal_cell_of_disease |
Primitive Mesenchymal Round to Oval Cell C1709674 |
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Genes (11)
Species: human : 11 | |
Human | CREB3L2 | 64764 | cAMP responsive element binding protein 3-like 2 | BBF2H7 was fused with FUS in a low grade myxoid liposarcoma | Human | HMGA2 | 8091 | high mobility group AT-hook 2 | In a uterine leiomyoma and a myxoid liposarcoma with translocations 12;14 and 12;16, the breakpoints in chromosome 12 could be localized to the HMGIC and CHOP regions, respectively. | Human | WNT1 | 7471 | wingless-type MMTV integration site family, member 1 | The human int-1 gene is located at chromosome region 12q12-12q13 and is not rearranged in myxoid liposarcoma with t(12;16) (q13;p11). Translocation t(12;16)(q13;p11) in myxoid liposarcoma of a child and implication of the human int-1 gene in tumorigenesis. | Human | TERC | 7012 | telomerase RNA component | To examine whether telomerase activity, hTRT and hTR mRNA expression were associated with tumor progression in myxoid liposarcoma, we investigated a total of 28 myxoid liposarcomas (13 pure myxoid tumors, 14 mixed-type tumors, and 1 pure round-cell variant) from 19 patients. | Human | TAL1 | 6886 | T-cell acute lymphocytic leukemia 1 | This report also discusses the differential diagnosis, particularly distinguishing DFML from SCL and myxoid liposarcoma. | Human | MYF5 | 4617 | myogenic factor 5 | Finally, the MYF5 gene mapped telomeric to LLNL12NCO1-113D12, and the MIP gene mapped centromeric to the chromosome 12 translocation breakpoint in myxoid liposarcoma cells. | Human | LRP1 | 4035 | low density lipoprotein receptor-related protein 1 | Putative apolipoprotein receptor gene (LRP, A2MR) is not rearranged in either myxoid liposarcoma or lipomas with translocations in 12q13-14. | Human | GLI1 | 2735 | GLI family zinc finger 1 | The locus GLI, which encodes a zinc-finger protein, has been mapped to the same region as the myxoid liposarcoma breakpoint. Pulsed-field analysis of myxoid liposarcoma and lipoma DNA has allowed us to construct a 600-kilobase physical map surrounding the GLI locus, which shows that breakpoints in both types of tumor are outside this region. However, myxoid liposarcoma DNA samples contained altered restriction fragments detectable with GLI probes that were highly specific and reproducible from case to case. | Human | FUS | 2521 | fused in sarcoma | Click here to display 19 evidence detail records. | Human | FLI1 | 2313 | Fli-1 proto-oncogene, ETS transcription factor | Furthermore, six of the translocations, namely the t(11;22), t(21;22), and t(7;22) of Ewings sarcoma, the t(12;22) of clear cell sarcoma, the t(12;16) of myxoid liposarcoma, and the t(11;22) of desmoplastic small round cell tumor, achieve this following a peculiar pattern, consisting in the fusion of a gene with an RNA-binding domain (EWS or TLS) with a transcription factor gene (FLI1, ERG, ETV1, ATF-1, CHOP, or WT1). | Human | ATF1 | 466 | activating transcription factor 1 | Furthermore, six of the translocations, namely the t(11;22), t(21;22), and t(7;22) of Ewings sarcoma, the t(12;22) of clear cell sarcoma, the t(12;16) of myxoid liposarcoma, and the t(11;22) of desmoplastic small round cell tumor, achieve this following a peculiar pattern, consisting in the fusion of a gene with an RNA-binding domain (EWS or TLS) with a transcription factor gene (FLI1, ERG, ETV1, ATF-1, CHOP, or WT1). The FUS gene at 16p11 fuses with DDIT3 and ATF1 as the result of translocations with chromosome band 12q13 in myxoid liposarcoma and angiomatoid fibrous histiocytoma, respectively, and with ERG as the result of a t(16;21)(p11;q22) in acute myeloid leukemia. Different classes of DNA binding proteins, ATF1, WT1 and CHOP are fused to EWS generating distinct tumor phenotypes: clear cell sarcoma, desmoplastic small round cell tumor, and myxoid liposarcoma, respectively. The FUS gene is rearranged in the t(12;16)(q13;p11) that characterizes myxoid liposarcoma and in acute myeloid leukemia with t(16;21)(p11;q22), while the ATF-1 gene is rearranged in the t(12;22)(q13;q12) found recurrently in clear cell sarcomas (malignant melanoma of soft parts). |
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