| Written | 2007-11 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Identity |
| Alias_symbol (synonym) | TTL |
| Other alias | FLJ21437 |
| LOC646982 | |
| TTL/TEL | |
| TTL-T | |
| TTL-B1 | |
| TTL-B2 | |
| HGNC (Hugo) | LINC00598 |
| LocusID (NCBI) | 646982 |
| Atlas_Id | 529 |
| Location | 13q14 [Link to chromosome band 13q14] |
| Location_base_pair | Starts at 40347134 and ends at 40481006 bp from pter ( according to hg19-Feb_2009) [Mapping LINC00598.png] |
| Fusion genes (updated 2017) | Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands) |
| Note | Not to be confused with: TTL : tubulin tyrosine ligase (2q13), nor with "transthyretin-like (TTL) gene family", a family to which belongs TTR (transthyretin, 18q12). |
| DNA/RNA |
| Description | Start at 39,822,377 bp from pter; the gene spans 119,929 bases on minus strand. |
| Transcription | Three splicing forms, namely: TTL-T, TTL-B1 and -B2. TTL-T is 2090 bp long and composed of exons 1-8. The longest open-reading frame contains exons 4, 5, and part of exon 6; it encods a 133 amino acids peptid. TTL-B1 transcript is 3450 bp long and is composed of exons 4, 5, and part of exon 9. TTL-B2, 3588 bp long is composed of exons 4, 5, and part of exon 8a. |
| Protein |
| Note | This gene/protein remains poorly known: there has been no study on it since the princeps paper by Qiao et al (2003). |
| Expression | Ubiquitous expression (lung, liver, spleen, thymus, and bone marrow); major expression in brain and testis. |
| Homology | TTL has no homology to known genes. |
| Implicated in |
| Note | |
| Entity | t(12;13)(p13;q14) in B-cell acute lymphoblastic leukaemia (B-ALL) --> ETV6 /LINC00598 |
| Note | Only one case to date. |
| Hybrid/Mutated Gene | Both reciprocal transcripts, TTL/ETV6 and ETV6/TTL, were detected. ETV6/TTL fusion transcript The other transcript, TTL/ETV6, comprises 5' TTL exons 1 to 5 or to 8a, fused to ETV6 from exon 2. The predicted 530 amino acids fusion protein consists mostly of ETV6 with both HLH and ETS domains, and could have modified transcriptional activities. On the other hand, a loss of function of ETV6 and/or of TTL.could play the critical role in leukemogenesis. |
| Bibliography |
| Identification of a novel fusion gene, TTL, fused to ETV6 in acute lymphoblastic leukemia with t(12;13)(p13;q14), and its implication in leukemogenesis. |
| Qiao Y, Ogawa S, Hangaishi A, Yuji K, Izutsu K, Kunisato A, Imai Y, Wang L, Hosoya N, Nannya Y, Sato Y, Maki K, Mitani K, Hirai H. |
| Leukemia. 2003 Jun; 17(6): 1112-20. |
| PMID 12764377 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| TTL (twelve-thirteen translocation leukemia) |
| Atlas Genet Cytogenet Oncol Haematol. 2008;12(4):295-295. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Genes/TTLID529ch13q14.html |
| Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ] |
|
t(12;13)(p13;q14) LIN00598/ETV6
|
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Tue Apr 30 14:52:08 CEST 2019 |
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