882d63cde5f01e2d8c12184650ecfdce7d4df13d
SLC29A2.md
| ... | ... | @@ -46,5 +46,13 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/S |
| 46 | 46 | <!-- ORIGIN: loveGeneticLandscapeMutations2012 --> |
| 47 | 47 | <!-- BL: loveGeneticLandscapeMutations2012 --> |
| 48 | 48 | |
| 49 | +## Representative Mutations |
|
| 50 | + |
|
| 51 | + |
|
| 52 | +**Rating** |
|
| 53 | +★ ☆ ☆ ☆ ☆ |
|
| 54 | + |
|
| 55 | + |
|
| 56 | + |
|
| 49 | 57 | ## References |
| 50 | 58 | 1. Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561 |
papers/loveGeneticLandscapeMutations2012.md
| ... | ... | @@ -93,7 +93,7 @@ All other BL studies, BL Tier 2, 101 |
| 93 | 93 | |[SBF1](../SBF1)|2 |★ ★ ☆ ☆ ☆| |
| 94 | 94 | |[SF3B1](../SF3B1)|2 |★ ★ ★ ★ ☆| |
| 95 | 95 | |[SHANK1](../SHANK1)|2 |★ ☆ ☆ ☆ ☆| |
| 96 | -|[SLC29A2](../SLC29A2)|2 || |
|
| 96 | +|[SLC29A2](../SLC29A2)|2 |★ ☆ ☆ ☆ ☆| |
|
| 97 | 97 | |[SYNGAP1](../SYNGAP1)|2 |★ ☆ ☆ ☆ ☆| |
| 98 | 98 | |[TBC1D9B](../TBC1D9B)|2 || |
| 99 | 99 | |[TIGD6](../TIGD6)|2 || |
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|
|
| 368 | +<h1 id="lovegeneticlandscapemutations2012">@loveGeneticLandscapeMutations2012</h1> |
|
| 369 | +<h2 id="summary-of-novel-genes">Summary of novel genes</h2> |
|
| 370 | +<table> |
|
| 371 | +<thead> |
|
| 372 | +<tr> |
|
| 373 | +<th style="text-align:center">Entity</th> |
|
| 374 | +<th style="text-align:center">Tier 1 genes</th> |
|
| 375 | +<th style="text-align:center">Tier 2 genes</th> |
|
| 376 | +</tr> |
|
| 377 | +</thead> |
|
| 378 | +<tbody> |
|
| 379 | +<tr> |
|
| 380 | +<td style="text-align:center">BL</td> |
|
| 381 | +<td style="text-align:center">3</td> |
|
| 382 | +<td style="text-align:center">56</td> |
|
| 383 | +</tr> |
|
| 384 | +</tbody> |
|
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| 386 | +<pre><code class="language-mermaid"><div class="mermaid">--- |
|
| 387 | +config: |
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| 388 | + sankey: |
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|
| 396 | +--- |
|
| 397 | +sankey-beta |
|
| 398 | +This study, New Tier 1, 3 |
|
| 399 | +New Tier 1, BL Tier 1, 3 |
|
| 400 | +This study, New Tier 2, 56 |
|
| 401 | +New Tier 2, BL Tier 2, 56 |
|
| 402 | +All other BL studies, BL Tier 1, 26 |
|
| 403 | +All other BL studies, BL Tier 2, 101 |
|
| 404 | +</div></code></pre> |
|
| 405 | +<h2 id="novel-genes-reported-in-this-study">Novel genes reported in this study</h2> |
|
| 406 | +<h3 id="tier-1">Tier 1</h3> |
|
| 407 | +<table> |
|
| 408 | +<thead> |
|
| 409 | +<tr> |
|
| 410 | +<th style="text-align:left">New gene</th> |
|
| 411 | +<th style="text-align:center">BL tier</th> |
|
| 412 | +</tr> |
|
| 413 | +</thead> |
|
| 414 | +<tbody> |
|
| 415 | +<tr> |
|
| 416 | +<td style="text-align:left"><a href="../ARID1A">ARID1A</a></td> |
|
| 417 | +<td style="text-align:center">1</td> |
|
| 418 | +</tr> |
|
| 419 | +<tr> |
|
| 420 | +<td style="text-align:left"><a href="../GNA13">GNA13</a></td> |
|
| 421 | +<td style="text-align:center">1</td> |
|
| 422 | +</tr> |
|
| 423 | +<tr> |
|
| 424 | +<td style="text-align:left"><a href="../PTEN">PTEN</a></td> |
|
| 425 | +<td style="text-align:center">1</td> |
|
| 426 | +</tr> |
|
| 427 | +</tbody> |
|
| 428 | +</table> |
|
| 429 | +<h3 id="tier-2">Tier 2</h3> |
|
| 430 | +<table> |
|
| 431 | +<thead> |
|
| 432 | +<tr> |
|
| 433 | +<th style="text-align:left">New gene</th> |
|
| 434 | +<th style="text-align:center">BL tier</th> |
|
| 435 | +<th style="text-align:center">Rating of reviewed variants</th> |
|
| 436 | +</tr> |
|
| 437 | +</thead> |
|
| 438 | +<tbody> |
|
| 439 | +<tr> |
|
| 440 | +<td style="text-align:left"><a href="../ACAD9">ACAD9</a></td> |
|
| 441 | +<td style="text-align:center">2</td> |
|
| 442 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 443 | +</tr> |
|
| 444 | +<tr> |
|
| 445 | +<td style="text-align:left"><a href="../ACE">ACE</a></td> |
|
| 446 | +<td style="text-align:center">2</td> |
|
| 447 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 448 | +</tr> |
|
| 449 | +<tr> |
|
| 450 | +<td style="text-align:left"><a href="../ATP2C2">ATP2C2</a></td> |
|
| 451 | +<td style="text-align:center">2</td> |
|
| 452 | +<td style="text-align:center">★ ★ ☆ ☆ ☆</td> |
|
| 453 | +</tr> |
|
| 454 | +<tr> |
|
| 455 | +<td style="text-align:left"><a href="../BCL6">BCL6</a></td> |
|
| 456 | +<td style="text-align:center">2</td> |
|
| 457 | +<td style="text-align:center">★ ★ ★ ★ ☆</td> |
|
| 458 | +</tr> |
|
| 459 | +<tr> |
|
| 460 | +<td style="text-align:left"><a href="../BRAF">BRAF</a></td> |
|
| 461 | +<td style="text-align:center">2</td> |
|
| 462 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 463 | +</tr> |
|
| 464 | +<tr> |
|
| 465 | +<td style="text-align:left"><a href="../BRD4">BRD4</a></td> |
|
| 466 | +<td style="text-align:center">2</td> |
|
| 467 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 468 | +</tr> |
|
| 469 | +<tr> |
|
| 470 | +<td style="text-align:left"><a href="../BTG2">BTG2</a></td> |
|
| 471 | +<td style="text-align:center">2</td> |
|
| 472 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 473 | +</tr> |
|
| 474 | +<tr> |
|
| 475 | +<td style="text-align:left"><a href="../C6orf27">C6orf27</a></td> |
|
| 476 | +<td style="text-align:center">2</td> |
|
| 477 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 478 | +</tr> |
|
| 479 | +<tr> |
|
| 480 | +<td style="text-align:left"><a href="../CAD">CAD</a></td> |
|
| 481 | +<td style="text-align:center">2</td> |
|
| 482 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 483 | +</tr> |
|
| 484 | +<tr> |
|
| 485 | +<td style="text-align:left"><a href="../CARD4">CARD4</a></td> |
|
| 486 | +<td style="text-align:center">2</td> |
|
| 487 | +<td style="text-align:center">★ ★ ★ ★ ☆</td> |
|
| 488 | +</tr> |
|
| 489 | +<tr> |
|
| 490 | +<td style="text-align:left"><a href="../CCT6B">CCT6B</a></td> |
|
| 491 | +<td style="text-align:center">2</td> |
|
| 492 | +<td style="text-align:center"><em>Germline</em></td> |
|
| 493 | +</tr> |
|
| 494 | +<tr> |
|
| 495 | +<td style="text-align:left"><a href="../CDC73">CDC73</a></td> |
|
| 496 | +<td style="text-align:center">2</td> |
|
| 497 | +<td style="text-align:center">★ ★ ★ ☆ ☆</td> |
|
| 498 | +</tr> |
|
| 499 | +<tr> |
|
| 500 | +<td style="text-align:left"><a href="../CDH17">CDH17</a></td> |
|
| 501 | +<td style="text-align:center">2</td> |
|
| 502 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 503 | +</tr> |
|
| 504 | +<tr> |
|
| 505 | +<td style="text-align:left"><a href="../COL4A2">COL4A2</a></td> |
|
| 506 | +<td style="text-align:center">2</td> |
|
| 507 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 508 | +</tr> |
|
| 509 | +<tr> |
|
| 510 | +<td style="text-align:left"><a href="../CREBBP">CREBBP</a></td> |
|
| 511 | +<td style="text-align:center">2</td> |
|
| 512 | +<td style="text-align:center">★ ★ ★ ★ ☆</td> |
|
| 513 | +</tr> |
|
| 514 | +<tr> |
|
| 515 | +<td style="text-align:left"><a href="../CYB5D1">CYB5D1</a></td> |
|
| 516 | +<td style="text-align:center">2</td> |
|
| 517 | +<td style="text-align:center">★ ★ ☆ ☆ ☆</td> |
|
| 518 | +</tr> |
|
| 519 | +<tr> |
|
| 520 | +<td style="text-align:left"><a href="../CYP4F22">CYP4F22</a></td> |
|
| 521 | +<td style="text-align:center">2</td> |
|
| 522 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 523 | +</tr> |
|
| 524 | +<tr> |
|
| 525 | +<td style="text-align:left"><a href="../DLGAP1">DLGAP1</a></td> |
|
| 526 | +<td style="text-align:center">2</td> |
|
| 527 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 528 | +</tr> |
|
| 529 | +<tr> |
|
| 530 | +<td style="text-align:left"><a href="../DTX1">DTX1</a></td> |
|
| 531 | +<td style="text-align:center">2</td> |
|
| 532 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 533 | +</tr> |
|
| 534 | +<tr> |
|
| 535 | +<td style="text-align:left"><a href="../EIF2C4">EIF2C4</a></td> |
|
| 536 | +<td style="text-align:center">2</td> |
|
| 537 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 538 | +</tr> |
|
| 539 | +<tr> |
|
| 540 | +<td style="text-align:left"><a href="../EML2">EML2</a></td> |
|
| 541 | +<td style="text-align:center">2</td> |
|
| 542 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 543 | +</tr> |
|
| 544 | +<tr> |
|
| 545 | +<td style="text-align:left"><a href="../ENTPD3">ENTPD3</a></td> |
|
| 546 | +<td style="text-align:center">2</td> |
|
| 547 | +<td style="text-align:center">★ ★ ☆ ☆ ☆</td> |
|
| 548 | +</tr> |
|
| 549 | +<tr> |
|
| 550 | +<td style="text-align:left"><a href="../EPHB2">EPHB2</a></td> |
|
| 551 | +<td style="text-align:center">2</td> |
|
| 552 | +<td style="text-align:center">★ ★ ☆ ☆ ☆</td> |
|
| 553 | +</tr> |
|
| 554 | +<tr> |
|
| 555 | +<td style="text-align:left"><a href="../EZH2">EZH2</a></td> |
|
| 556 | +<td style="text-align:center">2</td> |
|
| 557 | +<td style="text-align:center">★ ★ ★ ★ ★</td> |
|
| 558 | +</tr> |
|
| 559 | +<tr> |
|
| 560 | +<td style="text-align:left"><a href="../FAM129B">FAM129B</a></td> |
|
| 561 | +<td style="text-align:center">2</td> |
|
| 562 | +<td style="text-align:center">★ ★ ☆ ☆ ☆</td> |
|
| 563 | +</tr> |
|
| 564 | +<tr> |
|
| 565 | +<td style="text-align:left"><a href="../FGFR3">FGFR3</a></td> |
|
| 566 | +<td style="text-align:center">2</td> |
|
| 567 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 568 | +</tr> |
|
| 569 | +<tr> |
|
| 570 | +<td style="text-align:left"><a href="../FTCD">FTCD</a></td> |
|
| 571 | +<td style="text-align:center">2</td> |
|
| 572 | +<td style="text-align:center"><em>Germline</em></td> |
|
| 573 | +</tr> |
|
| 574 | +<tr> |
|
| 575 | +<td style="text-align:left"><a href="../GGTLA4">GGTLA4</a></td> |
|
| 576 | +<td style="text-align:center">2</td> |
|
| 577 | +<td style="text-align:center">★ ★ ★ ★ ☆</td> |
|
| 578 | +</tr> |
|
| 579 | +<tr> |
|
| 580 | +<td style="text-align:left"><a href="../GRIK5">GRIK5</a></td> |
|
| 581 | +<td style="text-align:center">2</td> |
|
| 582 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 583 | +</tr> |
|
| 584 | +<tr> |
|
| 585 | +<td style="text-align:left"><a href="../ICK">ICK</a></td> |
|
| 586 | +<td style="text-align:center">2</td> |
|
| 587 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 588 | +</tr> |
|
| 589 | +<tr> |
|
| 590 | +<td style="text-align:left"><a href="../ITPR3">ITPR3</a></td> |
|
| 591 | +<td style="text-align:center">2</td> |
|
| 592 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 593 | +</tr> |
|
| 594 | +<tr> |
|
| 595 | +<td style="text-align:left"><a href="../KIFC3">KIFC3</a></td> |
|
| 596 | +<td style="text-align:center">2</td> |
|
| 597 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 598 | +</tr> |
|
| 599 | +<tr> |
|
| 600 | +<td style="text-align:left"><a href="../MAP3K6">MAP3K6</a></td> |
|
| 601 | +<td style="text-align:center">2</td> |
|
| 602 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 603 | +</tr> |
|
| 604 | +<tr> |
|
| 605 | +<td style="text-align:left"><a href="../MYH10">MYH10</a></td> |
|
| 606 | +<td style="text-align:center">2</td> |
|
| 607 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 608 | +</tr> |
|
| 609 | +<tr> |
|
| 610 | +<td style="text-align:left"><a href="../NBEAL1">NBEAL1</a></td> |
|
| 611 | +<td style="text-align:center">2</td> |
|
| 612 | +<td style="text-align:center">★ ★ ★ ★ ☆</td> |
|
| 613 | +</tr> |
|
| 614 | +<tr> |
|
| 615 | +<td style="text-align:left"><a href="../NOTCH1">NOTCH1</a></td> |
|
| 616 | +<td style="text-align:center">2</td> |
|
| 617 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 618 | +</tr> |
|
| 619 | +<tr> |
|
| 620 | +<td style="text-align:left"><a href="../NRXN2">NRXN2</a></td> |
|
| 621 | +<td style="text-align:center">2</td> |
|
| 622 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 623 | +</tr> |
|
| 624 | +<tr> |
|
| 625 | +<td style="text-align:left"><a href="../P2RY2">P2RY2</a></td> |
|
| 626 | +<td style="text-align:center">2</td> |
|
| 627 | +<td style="text-align:center">★ ★ ★ ★ ☆</td> |
|
| 628 | +</tr> |
|
| 629 | +<tr> |
|
| 630 | +<td style="text-align:left"><a href="../PC">PC</a></td> |
|
| 631 | +<td style="text-align:center">2</td> |
|
| 632 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 633 | +</tr> |
|
| 634 | +<tr> |
|
| 635 | +<td style="text-align:left"><a href="../POLRMT">POLRMT</a></td> |
|
| 636 | +<td style="text-align:center">2</td> |
|
| 637 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 638 | +</tr> |
|
| 639 | +<tr> |
|
| 640 | +<td style="text-align:left"><a href="../POR">POR</a></td> |
|
| 641 | +<td style="text-align:center">2</td> |
|
| 642 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 643 | +</tr> |
|
| 644 | +<tr> |
|
| 645 | +<td style="text-align:left"><a href="../PRSS22">PRSS22</a></td> |
|
| 646 | +<td style="text-align:center">2</td> |
|
| 647 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 648 | +</tr> |
|
| 649 | +<tr> |
|
| 650 | +<td style="text-align:left"><a href="../PTPRN">PTPRN</a></td> |
|
| 651 | +<td style="text-align:center">2</td> |
|
| 652 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 653 | +</tr> |
|
| 654 | +<tr> |
|
| 655 | +<td style="text-align:left"><a href="../RANBP6">RANBP6</a></td> |
|
| 656 | +<td style="text-align:center">2</td> |
|
| 657 | +<td style="text-align:center">★ ★ ★ ★ ★</td> |
|
| 658 | +</tr> |
|
| 659 | +<tr> |
|
| 660 | +<td style="text-align:left"><a href="../RBP3">RBP3</a></td> |
|
| 661 | +<td style="text-align:center">2</td> |
|
| 662 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 663 | +</tr> |
|
| 664 | +<tr> |
|
| 665 | +<td style="text-align:left"><a href="../RET">RET</a></td> |
|
| 666 | +<td style="text-align:center">2</td> |
|
| 667 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 668 | +</tr> |
|
| 669 | +<tr> |
|
| 670 | +<td style="text-align:left"><a href="../SALL3">SALL3</a></td> |
|
| 671 | +<td style="text-align:center">2</td> |
|
| 672 | +<td style="text-align:center">★ ★ ☆ ☆ ☆</td> |
|
| 673 | +</tr> |
|
| 674 | +<tr> |
|
| 675 | +<td style="text-align:left"><a href="../SAPS2">SAPS2</a></td> |
|
| 676 | +<td style="text-align:center">2</td> |
|
| 677 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 678 | +</tr> |
|
| 679 | +<tr> |
|
| 680 | +<td style="text-align:left"><a href="../SBF1">SBF1</a></td> |
|
| 681 | +<td style="text-align:center">2</td> |
|
| 682 | +<td style="text-align:center">★ ★ ☆ ☆ ☆</td> |
|
| 683 | +</tr> |
|
| 684 | +<tr> |
|
| 685 | +<td style="text-align:left"><a href="../SF3B1">SF3B1</a></td> |
|
| 686 | +<td style="text-align:center">2</td> |
|
| 687 | +<td style="text-align:center">★ ★ ★ ★ ☆</td> |
|
| 688 | +</tr> |
|
| 689 | +<tr> |
|
| 690 | +<td style="text-align:left"><a href="../SHANK1">SHANK1</a></td> |
|
| 691 | +<td style="text-align:center">2</td> |
|
| 692 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 693 | +</tr> |
|
| 694 | +<tr> |
|
| 695 | +<td style="text-align:left"><a href="../SLC29A2">SLC29A2</a></td> |
|
| 696 | +<td style="text-align:center">2</td> |
|
| 697 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 698 | +</tr> |
|
| 699 | +<tr> |
|
| 700 | +<td style="text-align:left"><a href="../SYNGAP1">SYNGAP1</a></td> |
|
| 701 | +<td style="text-align:center">2</td> |
|
| 702 | +<td style="text-align:center">★ ☆ ☆ ☆ ☆</td> |
|
| 703 | +</tr> |
|
| 704 | +<tr> |
|
| 705 | +<td style="text-align:left"><a href="../TBC1D9B">TBC1D9B</a></td> |
|
| 706 | +<td style="text-align:center">2</td> |
|
| 707 | +<td style="text-align:center"></td> |
|
| 708 | +</tr> |
|
| 709 | +<tr> |
|
| 710 | +<td style="text-align:left"><a href="../TIGD6">TIGD6</a></td> |
|
| 711 | +<td style="text-align:center">2</td> |
|
| 712 | +<td style="text-align:center"></td> |
|
| 713 | +</tr> |
|
| 714 | +<tr> |
|
| 715 | +<td style="text-align:left"><a href="../TPST2">TPST2</a></td> |
|
| 716 | +<td style="text-align:center">2</td> |
|
| 717 | +<td style="text-align:center"></td> |
|
| 718 | +</tr> |
|
| 719 | +<tr> |
|
| 720 | +<td style="text-align:left"><a href="../ZNF229">ZNF229</a></td> |
|
| 721 | +<td style="text-align:center">2</td> |
|
| 722 | +<td style="text-align:center"><em>Germline</em></td> |
|
| 723 | +</tr> |
|
| 724 | +</tbody> |
|
| 725 | +</table> |
|
| 726 | +<h2 id="see-also">See Also</h2> |
|
| 727 | +<p>The primary data supporting each of the mutations reported in this study can be viewed in <a href="https://www.bcgsc.ca/downloads/morinlab/GAMBL/Love/">IGV reports</a></p> |
|
| 728 | +<h1 id="details">Details</h1> |
|
| 729 | +
|
|
| 730 | +</body>
|
|
| 731 | +</html>
|
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