Annotation Detail

Information
Associated Genes
ADARB1 AIRE APP ATP5PF ATP5PO BACH1 PTTG1IP CFAP410 TMEM50B RUNX1 CBR1 CBR3 CBS COL6A1 COL6A2 CRYAA CSTB CXADR DSCAM RCAN1 DYRK1A ERG ETS2 GABPA GART GRIK1 HLCS HMGN1 PRMT2 IFNAR1 IFNAR2 IFNGR2 IL10RB ITGB2 KCNE1 KCNJ6 KCNJ15 LSS MX1 MX2 NCAM2 NDUFV3 PCNT PCP4 PDE9A PFKL PKNOX1 TMPRSS15 PWP2 S100B SH3BGR ITSN1 SIM2 SLC5A3 SLC19A1 SUMO3 SOD1 SON HSPA13 TFF1 TFF2 TFF3 TIAM1 TRAPPC10 TMPRSS2 TPTE TRPM2 TTC3 U2AF1 UBE2G2 GET1 NRIP1 CHAF1B GATD3 PDXK RRP1 PSMG1 SYNJ1 MCM3AP CLDN8 ADAMTS1 ABCG1 URB1 CRYZL1 DOP1B KCNE2 RWDD2B OLIG2 DSCR4 VPS26C B3GALT5 USP16 CCT8 WDR4 FTCD BTG3 HSF2BP ADAMTS5 RRP1B DIP2A POFUT2 ICOSLG MORC3 CLDN14 BACE2 C2CD2 LTN1 CLDN17 N6AMT1 USP25 DNMT3L DONSON HUNK ZBTB21 PIGP UBASH3A RIPPLY3 BRWD1 SLC37A1 RBM11 PCBP3 C21orf58 YBEY LINC00160 SMIM11 EPCIP-AS1 MIS18A LINC00158 CHODL-AS1 TSPEAR-AS1 TSPEAR LINC00113 LINC00112 LINC00111 SETD4 FAM3B RIPK4 CLIC6 LINC00308 H2BC12L BACH1-IT3 MRPL39 C21orf91 DNAJC28 EPCIP MRAP CFAP298 AGPAT3 MAP3K7CL SCAF4 JAM2 EVA1C PRDM15 SAMSN1 TMPRSS3 MRPS6 RUNX1-IT1 COL18A1 LRRC3 SPATC1L LINC01547 DSCR8 URB1-AS1 BAGE2 SLX9 RSPH1 UMODL1 ERVH48-1 PAXBP1 LINC00310 LINC00313 B3GALT5-AS1 LINC00334 TSPEAR-AS2 MCM3AP-AS1 MIR155HG CYYR1 OLIG1 LINC00161 KRTAP13-1 TCP10L CHODL LIPI TIAM1-AS1 LCA5L IGSF5 SIK1 LINC00479 ZNF295-AS1 UMODL1-AS1 PLAC4 LINC00189 C21orf91-OT1 LINC00315 LINC00314 KRTAP15-1 DSCR9 DSCR10 D21S2088E LINC00307 LINC00515 LINC01697 KRTAP13-4 LINC00323 LINC00319 AATBC POTED KRTAP7-1 KRTAP8-1 KRTAP11-1 KRTAP19-1 KRTAP13-2 KRTAP13-3 KRTAP23-1 KRTAP6-1 KRTAP6-2 KRTAP6-3 KRTAP19-2 KRTAP19-3 KRTAP19-4 KRTAP19-5 KRTAP19-6 KRTAP19-7 KRTAP20-1 KRTAP20-2 KRTAP21-1 KRTAP21-2 KRTAP22-1 KRTAP20-3 LINC01692 KRTAP12-2 KRTAP12-1 KRTAP10-10 PICSAR LINC00317 COL18A1-AS1 KRTAP10-4 KRTAP10-6 KRTAP10-7 KRTAP10-9 KRTAP10-1 KRTAP10-11 KRTAP10-2 KRTAP10-5 KRTAP10-8 KRTAP10-3 KRTAP12-3 KRTAP12-4 KRTAP10-12 LINC00320 MIR99AHG KRTAP26-1 SMIM34 LINC00316 LINC00114 ETS2-AS1 MIRLET7C MIR125B2 MIR155 MIR99A LINC01667 LINC00205 GRIK1-AS1 KRTAP24-1 KRTAP27-1 SNORA80A LINC00163 LINC00165 KRTAP19-8 LINC01548 MIR802 LINC00322 PCBP3-AS1 KRTAP25-1 CBR1-AS1 KRTAP20-4 TRG-GCC1-5 KRTAP22-2 KRTAP21-3 IL10RB-DT GRIK1-AS2 MIR4327 MIR548X MIR3118-1 MIR3156-3 MIR3197 MIR3648-1 ITGB2-AS1 LINC01549 PAXBP1-AS1 LINC00649 LINC01426 LOC100506403 CBR3-AS1 DSCAM-AS1 LINC00159 MIR4760 MIR4759 MIR5692B FTCD-AS1 LRRC3-DT DIP2A-IT1 TTC3-AS1 BRWD1-AS1 SAMSN1-AS1 MIS18A-AS1 COL18A1-AS2 BACH1-IT2 DSCAM-IT1 CYYR1-AS1 LINC01436 LOC101927745 MIR548XHG LINC01425 LINC01687 LINC01689 LINC01695 LOC101928107 LOC101928126 C21orf140 LOC101928212 LINC01671 LOC101928269 PDE9A-AS1 LINC01668 LOC101928398 LINC01679 LINC01700 TRPM2-AS LINC01424 BNAT1 LOC101928796 RSPH1-DT LOC101930100 LINC00945 MIR6070 MIR6501 MIR6724-1 MIR6814 MIR6815 MIR6130 MIR6508 LOC102723451 LOC102723475 LOC102723553 LINC01674 SOD1-DT LINC01690 LINC01423 LINC02940 BRWD1-AS2 MIR6724-2 MIR3648-2 MIR6724-4 MIR8069 MIR6724-3 SETD4-AS1 CLDN14-AS1 LOC105369306 LOC105369308 LINC01666 LINC01683 LINC01684 LOC105372753 LINC01673 MRAP-AS1 LOC105372791 KCNJ6-AS1 PCSEAT LOC105372832 DNMT3L-AS1 LINC01694 LOC105377134 LINC03039 LINC01678 LOC105379514 FRGCA RNA45SN1 RNA18SN1 RNA5-8SN1 RNA28SN1 SNORA91 GET1-SH3BGR LOC107403075 LOC107403153 LOC107548109 LOC107548111 LOC107983987 LINC02943 ASMER1 LOC108251799 LOC108254685 LOC108281139 LOC108281150 LOC108281151 LOC108281168 LOC109029533 SNORD74B SNORD159 LOC109648314 LOC109648316 LOC109648317 RNA45SN2 RNA18SN2 RNA5-8SN2 RNA28SN2 RNA45SN3 RNA18SN3 RNA5-8SN3 RNA28SN3 CFAP298-TCP10L LOC110121331 LOC110121341 LOC110121350 LOC110121368 LOC110121385 LOC110121395 LOC110121429 LOC110121448 LOC110121481 LOC110121495 LOC110121500 BTG3-AS1 LOC111099027 LOC111099028 LOC111188161 LINC02573 LINC02575 LOC111556145 LOC112694732 LOC112694733 LOC112694734 LOC112694735 LOC112694736 LOC112694740 LOC112694741 LOC112694744 LOC112694745 LOC112694746 LOC112694747 LOC112694748 LOC112694749 LOC112694750 LOC112694751 LOC112694752 LOC112694753 LOC112694754 MIR10396B MIR10396A LOC114004360 LOC114827853 LOC116309120 LOC116309121 LOC116309122 LOC116309123 LOC116309124 LOC116309125 LOC117134604 LOC117134605 LOC117134606 LOC117134607 LOC117134608 LOC117134611 LOC117135104 LOC117135105 LOC117135106 APP-DT LOC119230225 LOC119266102 LOC120807613 LOC121627918 LOC121627919 LOC121627920 LOC121627921 LOC121627922 LOC121627923 LOC121627924 LOC121627925 LOC121627926 LOC121627927 LOC121725031 LINC02920 LOC121853021 LOC121853022 LOC121853023 LOC121853024 LOC121853025 LOC121853026 LOC121853027 LOC121853028 LOC121853029 LOC121853030 LOC121853031 LOC121853032 LOC121853033 LOC121853034 COL6A2-DT HLCS-AS1 RUNX1-AS1 LOC125387321 LOC125387322 LOC125387324 LOC125387325 LOC125387326 LOC125418048 LOC125418049 LOC125418050 LOC125418051 LOC125418052 LOC125418053 LOC125418054 LOC125418055 LOC125418056 LOC125418057 LOC125418058 LOC125418059 LOC125418060 LOC125418061 LOC125418062 LOC125418063 LOC125418065 LOC125418066 LOC125418067 LOC125418068 LOC125418070 LOC125418071 LOC125418072 LOC125418073 LOC125418075 LOC125418076 LOC125418077 LOC125418078 LOC125418079 LOC125418080 LOC125418081 LOC125418082 LOC125418083 LOC125418084 LOC125418085 LOC125418086 LOC125418087 LOC125418088 LOC126088094 LOC126088095 LOC126653312 LOC126653313 LOC126653314 LOC126653315 LOC126653316 LOC126653317 LOC126653318 LOC126653319 LOC126653320 LOC126653321 LOC126653322 LOC126653323 LOC126653324 LOC126653325 LOC126653326 LOC126653327 LOC126653328 LOC126653329 LOC126653330 LOC126653331 LOC126653332 LOC126653333 LOC126653334 LOC126653335 LOC126653336 LOC126653337 LOC126653338 LOC126653339 LOC126653340 LOC126653341 LOC126653342 LOC126653343 LOC126653344 LOC126653345 LOC126653346 LOC126653347 LOC126653348 LOC126653349 LOC126653350 LOC126653351 LOC126653352 LOC126653353 LOC126653354 LOC126653355 LOC126653356 LOC126653357 LOC126653358 LOC126653359 LOC126653360 LOC126653361 LOC126653362 LOC126653363 LOC126653364 LOC126653365 LOC126653366 LOC126653367 LOC126653368 LOC126653369 LOC126653370 LOC126653371 LOC126653372 LOC126653373 LOC126653374 LOC126653375 LOC126653376 LOC126653377 LOC126653378 LOC126653379 LOC126653380 LOC126653381 LOC126653382 LOC126653383 LOC126653384 LOC126653385 LOC126653386 LOC126653387 LOC126653388 LOC126653389 LOC126653390 LOC126653391 LOC126653392 LOC126653393 LOC126653394 LOC126653395 LOC126653396 LOC126653397 LOC126653398 LOC126653399 LOC126653400 LOC126653401 LOC126653402 LOC126653403 LOC126653404 IFNAR2-IL10RB LOC128092249 LOC128462413 LOC128462414 LOC128462415 LOC128462416 LOC128772427 LOC128849172 LOC129388418 LOC129391214 LOC129391215 LOC129391216 LOC129391217 LOC129391218 LOC129391219 LOC129391220 LOC129391221 LOC129391222 LOC129391223 LOC129391224 LOC129391225 LOC129391226 LOC129391227 LOC129391228 LOC129391229 LOC129391230 LOC129391231 LOC129391232 LOC129391233 LOC129391234 LOC129391235 LOC129391236 LOC129391237 LOC129391238 LOC129391239 LOC129391240 LOC129391241 LOC129391242 LOC129391243 LOC129391244 LOC129391245 LOC129391246 LOC129391247 LOC129391248 LOC129391249 LOC129391250 LOC129391251 LOC129391252 LOC129391253 LOC129391254 LOC130066429 LOC130066430 LOC130066431 LOC130066432 LOC130066433 LOC130066434 LOC130066435 LOC130066436 LOC130066437 LOC130066438 LOC130066439 LOC130066440 LOC130066441 LOC130066442 LOC130066443 LOC130066444 LOC130066445 LOC130066446 LOC130066447 LOC130066448 LOC130066449 LOC130066450 LOC130066451 LOC130066452 LOC130066453 LOC130066454 LOC130066455 LOC130066456 LOC130066457 LOC130066458 LOC130066459 LOC130066460 LOC130066461 LOC130066462 LOC130066463 LOC130066464 LOC130066465 LOC130066466 LOC130066467 LOC130066468 LOC130066469 LOC130066470 LOC130066471 LOC130066472 LOC130066473 LOC130066474 LOC130066475 LOC130066476 LOC130066477 LOC130066478 LOC130066479 LOC130066480 LOC130066481 LOC130066482 LOC130066483 LOC130066484 LOC130066485 LOC130066486 LOC130066487 LOC130066488 LOC130066489 LOC130066490 LOC130066491 LOC130066492 LOC130066493 LOC130066494 LOC130066495 LOC130066496 LOC130066497 LOC130066498 LOC130066499 LOC130066500 LOC130066501 LOC130066502 LOC130066503 LOC130066504 LOC130066505 LOC130066506 LOC130066507 LOC130066508 LOC130066509 LOC130066510 LOC130066511 LOC130066512 LOC130066513 LOC130066514 LOC130066515 LOC130066516 LOC130066517 LOC130066518 LOC130066519 LOC130066520 LOC130066521 LOC130066522 LOC130066523 LOC130066524 LOC130066525 LOC130066526 LOC130066527 LOC130066528 LOC130066529 LOC130066530 LOC130066531 LOC130066532 LOC130066533 LOC130066534 LOC130066535 LOC130066536 LOC130066537 LOC130066538 LOC130066539 LOC130066540 LOC130066541 LOC130066542 LOC130066543 LOC130066544 LOC130066545 LOC130066546 LOC130066547 LOC130066548 LOC130066549 LOC130066550 LOC130066551 LOC130066552 LOC130066553 LOC130066554 LOC130066555 LOC130066556 LOC130066557 LOC130066558 LOC130066559 LOC130066560 LOC130066561 LOC130066562 LOC130066563 LOC130066564 LOC130066565 LOC130066566 LOC130066567 LOC130066568 LOC130066569 LOC130066570 LOC130066571 LOC130066572 LOC130066573 LOC130066574 LOC130066575 LOC130066576 LOC130066577 LOC130066578 LOC130066579 LOC130066580 LOC130066581 LOC130066582 LOC130066583 LOC130066584 LOC130066585 LOC130066586 LOC130066587 LOC130066588 LOC130066589 LOC130066590 LOC130066591 LOC130066592 LOC130066593 LOC130066594 LOC130066595 LOC130066596 LOC130066597 LOC130066598 LOC130066599 LOC130066600 LOC130066601 LOC130066602 LOC130066603 LOC130066604 LOC130066605 LOC130066606 LOC130066607 LOC130066608 LOC130066609 LOC130066610 LOC130066611 LOC130066612 LOC130066613 LOC130066614 LOC130066615 LOC130066616 LOC130066617 LOC130066618 LOC130066619 LOC130066620 LOC130066621 LOC130066622 LOC130066623 LOC130066624 LOC130066625 LOC130066626 LOC130066627 LOC130066628 LOC130066629 LOC130066630 LOC130066631 LOC130066632 LOC130066633 LOC130066634 LOC130066635 LOC130066636 LOC130066637 LOC130066638 LOC130066639 LOC130066640 LOC130066641 LOC130066642 LOC130066643 LOC130066644 LOC130066645 LOC130066646 LOC130066647 LOC130066648 LOC130066649 LOC130066650 LOC130066651 LOC130066652 LOC130066653 LOC130066654 LOC130066655 LOC130066656 LOC130066657 LOC130066658 LOC130066659 LOC130066660 LOC130066661 LOC130066662 LOC130066663 LOC130066664 LOC130066665 LOC130066666 LOC130066667 LOC130066668 LOC130066669 LOC130066670 LOC130066671 LOC130066672 LOC130066673 LOC130066674 LOC130066675 LOC130066676 LOC130066677 LOC130066678 LOC130066679 LOC130066680 LOC130066681 LOC130066682 LOC130066683 LOC130066684 LOC130066685 LOC130066686 LOC130066687 LOC130066688 LOC130066689 LOC130066690 LOC130066691 LOC130066692 LOC130066693 LOC130066694 LOC130066695 LOC130066696 LOC130066697 LOC130066698 LOC130066699 LOC130066700 LOC130066701 LOC130066702 LOC130066703 LOC130066704 LOC130066705 LOC130066706 LOC130066707 LOC130066708 LOC130066709 LOC130066710 LOC130066711 LOC130066712 LOC130066713 LOC130066714 LOC130066715 LOC130066716 LOC130066717 LOC130066718 LOC130066719 LOC130066720 LOC130066721 LOC130066722 LOC130066723 LOC130066724 LOC130066725 LOC130066726 LOC130066727 LOC130066728 LOC130066729 LOC130066730 LOC130066731 LOC130066732 LOC130066733 LOC130066734 LOC130066735 LOC130066736 LOC130066737 LOC130066738 LOC130066739 LOC130066740 LOC130066741 LOC130066742 LOC130066743 LOC130066744 LOC130066745 LOC130066746 LOC130066747 LOC130066748 LOC130066749 LOC130066750 LOC130066751 LOC130066752 LOC130066753 LOC130066754 LOC130066755 LOC130066756 LOC130066757 LOC130066758 LOC130066759 LOC130066760 LOC130066761 LOC130066762 LOC130066763 LOC130066764 LOC130066765 LOC130066766 LOC130066767 LOC130066768 LOC130066769 LOC130066770 LOC130066771 LOC130066772 LOC130066773 LOC130066774 LOC130066775 LOC130066776 LOC130066777 LOC130066778 LOC130066779 LOC130066780 LOC130066781 LOC130066782 LOC130066783 LOC130066784 LOC130066785 LOC130066786 LOC130066787 LOC130066788 LOC130066789 LOC130066790 LOC130066791 LOC130066792 LOC130066793 LOC130066794 LOC130066795 LOC130066796 LOC130066797 LOC130066798 LOC130066799 LOC130066800 LOC130066801 LOC130066802 LOC130066803 LOC130066804 LOC130066805 LOC130066806 LOC130066807 LOC130066808 LOC130066809 LOC130066810 LOC130066811 LOC130066812 LOC130066813 LOC130066814 LOC130066815 LOC130066816 LOC130066817 LOC130066818 LOC130066819 LOC130066820 LOC130066821 LOC130066822 LOC130066823 LOC130066824 LOC130066825 LOC130066826 LOC130066827 LOC130066828 LOC130066829 LOC130066830 LOC130066831 LOC130066832 LOC130066833 LOC130066834 LOC130066835 LOC130066836 LOC130066837 LOC130066838 LOC130066839 LOC130066840 LOC130066841 LOC130066842 LOC130066843 LOC130066844 LOC130066845 LOC130066846 LOC130066847 LOC130066848 LOC130066849 LOC130066850 LOC130066851 LOC130066852 LOC130066853 LOC130066854 LOC130066855 LOC130066856 LOC130066857 LOC130066858 LOC130066859 LOC130066860 LOC130066861 LOC130066862 LOC130066863 LOC130066864 LOC130066865 LOC130066866 LOC130066867 LOC130066868 LOC130066869 LOC130066870 LOC130066871 LOC130066872 LOC130066873 LOC130066874 LOC130066875 LOC130066876 LOC130066877 LOC130066878 LOC130066879 LOC130066880 LOC130066881 LOC130066882 LOC130066883 LOC130066884 LOC130066885 LOC132090607 LOC132090608 LOC132090609 LOC132090610 LOC132090611 LOC132090612 LOC132090613 LOC132090614 LOC132090615 LOC132090616 LOC132090617 LOC132090618 LOC132090916 LOC132090917
Associated Variants
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3
Source Database
ClinVar
Description
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 AND See cases
ClinVar Allele ID
155083
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2010-11-30
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000134727
Observed Origin Sample
not provided
Drugs