Differentially spliced genes in Srsf2 mutant stem or progenitor cells for which mutations have been implicated in cancer
| Gene . | Splicing type . | Reports from other authors . | Tumor types . | ||
|---|---|---|---|---|---|
| Mouse model† . | Human samples‡ . | Splicing type in human samples . | |||
| Csf3r* | CE, MXE, A3SS | Yes | Yes | RI | CML, CNL, CMML, AML, MDS |
| Gnas* | CE | Yes | Yes | CE | MDS, pituitary adenoma |
| Hnrnpa2b1 | CE, MXE | Yes | Yes | CE | Prostate cancer |
| Nsd1* | RI | Yes | Yes | RI | AML |
| Tpm3 | CE | Yes | Yes | CE | Papillary thyroid cancer, lymphoma (ALCL), non–small cell lung cancer |
| Lmo2 | MXE | Yes | Yes | CE | T-ALL |
| Mllt10* | CE, MXE | Yes | No | — | Acute leukemia |
| Atrx* | CE | No | No | — | MDS, pancreatic neuroendocrine tumors, pediatric glioblastoma |
| Tcf12 | CE | No | No | — | Extraskeletal myxoid chondrosarcoma |
| Flcn | CE, A3SS | No | No | — | Renal carcinoma, fibrofolliculomas |
| Pbrm1 | CE, MXE | No | No | — | Renal carcinoma, breast cancer |
| Ext2 | CE, MXE | No | No | — | Exostoses, osteosarcoma |
| Tbl1xr1 | CE, MXE | No | No | — | Lymphoma, gallbladder carcinoma |
| Gene . | Splicing type . | Reports from other authors . | Tumor types . | ||
|---|---|---|---|---|---|
| Mouse model† . | Human samples‡ . | Splicing type in human samples . | |||
| Csf3r* | CE, MXE, A3SS | Yes | Yes | RI | CML, CNL, CMML, AML, MDS |
| Gnas* | CE | Yes | Yes | CE | MDS, pituitary adenoma |
| Hnrnpa2b1 | CE, MXE | Yes | Yes | CE | Prostate cancer |
| Nsd1* | RI | Yes | Yes | RI | AML |
| Tpm3 | CE | Yes | Yes | CE | Papillary thyroid cancer, lymphoma (ALCL), non–small cell lung cancer |
| Lmo2 | MXE | Yes | Yes | CE | T-ALL |
| Mllt10* | CE, MXE | Yes | No | — | Acute leukemia |
| Atrx* | CE | No | No | — | MDS, pancreatic neuroendocrine tumors, pediatric glioblastoma |
| Tcf12 | CE | No | No | — | Extraskeletal myxoid chondrosarcoma |
| Flcn | CE, A3SS | No | No | — | Renal carcinoma, fibrofolliculomas |
| Pbrm1 | CE, MXE | No | No | — | Renal carcinoma, breast cancer |
| Ext2 | CE, MXE | No | No | — | Exostoses, osteosarcoma |
| Tbl1xr1 | CE, MXE | No | No | — | Lymphoma, gallbladder carcinoma |
Among differentially spliced in more than 3 populations, 13 potential gene targets registered in the Cancer Gene Census (http://cancer.sanger.ac.uk/census) are listed.
A3SS, alternative 3′ splice sites; ALCL, anaplastic large-cell lymphoma; AML, acute myeloid leukemia; CML, chronic myeloid leukemia; CNL, chronic neutrophilic leukemia; MPN, myeloproliferative neoplasm; MXE, mutually exclusive exon; RI, retained intron; T-ALL, T-cell acute lymphoblastic leukemia.
Genes implicated in the pathogenesis of myeloid malignancies.
Reported in KSL or MP cell fractions from Srsf2 P95H–mutated mice (Kim et al12 ).
Reported in human SRSF2-mutated AML or CMML samples (Kim et al12 ) and/or K562 cell lines harboring SRSF2 P95H mutations (Zhang et al13 ).