TCERG1
transcription elongation regulator 1
Summary
This gene encodes a nuclear protein that regulates transcriptional elongation and pre-mRNA splicing. The encoded protein interacts with the hyperphosphorylated C-terminal domain of RNA polymerase II via multiple FF domains, and with the pre-mRNA splicing factor SF1 via a WW domain. Alternative splicing results in multiple transcripts variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Known Variants51 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs906937964 | 5:145,826,922 | C/G | — | uncertain significance |
| rs768149746 | 5:145,826,934 | G/T | — | uncertain significance |
| rs373601191 | 5:145,834,655 | G/A | — | likely benign |
| rs543467832 | 5:145,836,643 | T/C | — | — |
| rs9763419 | 5:145,837,732 | T/G | — | — |
| rs771009262 | 5:145,838,465 | C/T | — | uncertain significance |
| rs1763069320 | 5:145,838,487 | C/T | — | uncertain significance |
| rs1259095310 | 5:145,838,592 | C/T | — | uncertain significance |
| rs928448336 | 5:145,838,622 | C/T | — | uncertain significance |
| rs183780634 | 5:145,838,629 | T/C | — | likely benign |
| rs1763097506 | 5:145,838,638 | G/A | — | likely benign |
| rs532984875 | 5:145,838,644 | G/A | — | likely benign |
| rs187468589 | 5:145,838,647 | C/A | — | likely benign |
| rs546601229 | 5:145,838,650 | G/A | — | likely benign |
| rs1763126321 | 5:145,838,742 | C/T | — | uncertain significance |
| rs141891503 | 5:145,838,766 | C/T | — | uncertain significance |
| rs768102251 | 5:145,838,829 | C/A | — | uncertain significance |
| rs115619679 | 5:145,838,844 | C/T | — | benign |
| rs746293259 | 5:145,843,132 | A/G | — | uncertain significance |
| rs184611275 | 5:145,843,207 | T/C | — | uncertain significance |
| rs1411610021 | 5:145,843,210 | A/C | — | uncertain significance |
| rs2480542796 | 5:145,843,211 | A/C | — | uncertain significance |
| rs200378396 | 5:145,843,260 | T/C | — | uncertain significance |
| rs2480545461 | 5:145,843,264 | T/C | — | uncertain significance |
| rs201014111 | 5:145,849,142 | A/G | — | uncertain significance |
| rs773328601 | 5:145,849,181 | A/G | — | uncertain significance |
| rs2480821009 | 5:145,850,277 | A/G | — | uncertain significance |
| rs746604780 | 5:145,850,298 | A/G | — | uncertain significance |
| rs10059722 | 5:145,856,302 | G/A | intron variant | — |
| rs2481093529 | 5:145,858,076 | A/T | — | uncertain significance |
| rs555049003 | 5:145,858,163 | A/G | — | uncertain significance |
| rs2481095810 | 5:145,858,176 | G/T | — | uncertain significance |
| rs201178879 | 5:145,859,469 | G/A | — | uncertain significance |
| rs777910501 | 5:145,859,653 | C/T | — | uncertain significance |
| rs11554572 | 5:145,860,193 | G/T | — | — |
| rs12652790 | 5:145,861,940 | T/A | intron variant | — |
| rs2481269358 | 5:145,862,204 | G/A | — | uncertain significance |
| rs2481694817 | 5:145,872,483 | G/A | — | uncertain significance |
| rs1581533838 | 5:145,872,536 | A/G | — | likely benign |
| rs1398518764 | 5:145,872,548 | G/T | — | uncertain significance |
| rs141429873 | 5:145,878,209 | G/A | — | uncertain significance |
| rs773045282 | 5:145,878,212 | A/G | — | uncertain significance |
| rs752331696 | 5:145,878,230 | C/T | — | uncertain significance |
| rs747127771 | 5:145,883,022 | A/G | — | uncertain significance |
| rs748399280 | 5:145,883,047 | A/G | — | uncertain significance |
| rs2482137582 | 5:145,883,509 | G/C | — | uncertain significance |
| rs754031819 | 5:145,883,550 | A/G | — | uncertain significance |
| rs10073084 | 5:145,885,449 | C/T | intron variant | — |
| rs1404363356 | 5:145,886,686 | A/G | — | likely benign |
| rs910682747 | 5:145,886,766 | C/G | — | uncertain significance |
| rs1768381332 | 5:145,890,099 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.