Annotation Detail

Information
Associated Genes
ACTA1 ACTN2 PARP1 ADSS2 AGT ARF1 ATF3 CAPN2 CD34 CENPF CHML LYST CHRM3 CR1 CR1L CR2 CD55 EPHX1 EPRS1 ESRRG FH GALNT2 GNG4 GUK1 H3-3A HLX HNRNPU HSD11B1 IRF6 ITPKB KCNH1 KCNK1 KCNK2 LAMB3 LBR LGALS8 MARK1 CD46 MTR NEK2 NID1 NVL PLXNA2 PPP2R5A PROX1 PSEN2 PTPN14 RAB4A RGS7 RYR2 SRP9 TARBP1 TBCE TGFB2 LEFTY2 TLR5 GPR137B TP53BP2 TRAF5 TSNAX USH2A WNT9A ZNF124 SLC30A1 H3-4 GNPAT CDC42BPA DEGS1 KMO TAF1A EXO1 GGPS1 TMEM63A TOMM20 URB2 CEP170 LPGAT1 AKT3 BPNT1 ZBTB18 LEFTY1 CAPN9 SDCCAG8 DUSP10 COG2 RBM34 FBXO28 ABCB10 OPN3 RAB3GAP2 TRIM58 INTS7 AHCTF1 NSL1 OR1C1 OR2M4 OR2L2 OR2T1 RPS6KC1 UTP25 TAF5L DISC2 DISC1 FLVCR1 CNIH4 PYCR2 NENF G0S2 RRP15 DESI2 SCCPDH TRIM17 KCTD3 DTL ARID4B EGLN1 MAP10 MTARC2 SUSD4 KIF26B GPATCH2 HEATR1 PACC1 BATF3 SLC30A10 ZNF692 IARS2 HHAT ENAH NUP133 RCOR3 SERTAD4 ERO1B FMN2 SMYD2 COQ8A ZNF695 GJC2 CAMK1G SIPA1L2 ZP4 RHOU TFB2M GREM2 ACBD3 SMYD3 MTARC1 ARV1 AIDA JMJD4 C1orf35 TTC13 PGBD5 C1orf115 HHIPL2 VASH2 ZNF669 ZNF672 PCNX2 WDR26 TRAF3IP3 SH3BP5L OR9H1P OR2T7 OR2L5 OR2G3 OR2G2 OR2C3 TRIM11 MIXL1 SPRTN OBSCN NTPCR EFCAB2 MAP3K21 LINC00467 ZNF496 C1orf198 DISP1 WNT3A ANGEL2 NEK2-DT H2AC25 ZNF670 NLRP3 COX20 SNAP47 CCSAP LYPLAL1 OR2M5 OR2M3 OR2T12 OR14C36 OR2T34 OR2T10 OR2T4 OR2T11 DNAH14 OR2AJ1 OR14L1 OR2B11 WDR64 C1orf131 SPATA17 EDARADD MRPL55 H2BC26 TATDN3 C1orf74 BROX SLC35F3 LOC148696 B3GALNT2 GCSAML GCSAML-AS1 CNIH3 LINC01341 EXOC8 TRIM67-AS1 RNF187 SPATA45 GARIN4 SDE2 CNST CCDC185 PLD5 SPMIP3 IBA57 OR2T6 LINC01743 SYT14 CATSPERE PGBD2 OR2L13 OR14A16 LIN9 VN1R5 ZNF678 PRSS38 LINC02774 LINC01139 RD3 OR6F1 OR14K1 OR2W3 OR2T8 OR2T3 OR2T29 IRF2BP2 MIA3 STUM FAM89A CAPN8 COA6 LINC02897 OR14A2 OR11L1 OR2L8 OR2AK2 OR2L3 OR2M2 OR2T33 OR2M7 OR2G6 LINC02817 FLJ39095 FAM177B OR2T2 OR2T5 OR14I1 OR2T27 OR2T35 MIR194-1 MIR205 MIR215 MIR29B2 MIR29C LINC02869 TRIM67 MAP1LC3C LOC440742 BECN2 OR13G1 SERTAD4-AS1 OBSCN-AS1 IBA57-DT MIR205HG FLVCR1-DT ZC3H11B LYPLAL1-DT MT1HL1 LYPD8 TMEM78 SNORA14B SNORA36B SNORA16B TGFB2-AS1 LINC01347 LINC01348 MIR29B2CHG BTNL10P LINC02961 RNA5S1 RNA5S2 RNA5S3 RNA5S4 RNA5S5 RNA5S6 RNA5S7 RNA5S8 RNA5S9 RNA5S10 RNA5S11 RNA5S12 RNA5S13 RNA5S14 RNA5S15 RNA5S16 RNA5S17 TRL-CAA4-1 TRT-TGT2-1 TRE-CTC2-1 LINC00582 LGALS8-AS1 MIR1182 MIR1537 MIR664A LINC00184 TSNAX-DISC1 MIR320B2 MIR3123 MIR3124 MIR4260 MIR3122 MIR3620 MIR3916 PROX1-AS1 TAF1A-AS1 ITPKB-IT1 LINC02809 LINC01354 LINC01132 CHRM3-AS2 LOC100506929 ZNF670-ZNF695 MIR4428 MIR4753 MIR4666A MIR4677 MIR4671 MIR4427 MIR4742 MIR5008 LINC00538 HLX-AS1 CHRM3-AS1 AKT3-IT1 KCNH1-IT1 LINC00210 LOC101927143 LOC101927164 NUP133-DT LINC01682 LINC01736 LINC01737 LOC101927604 LINC01744 COA6-AS1 LOC101927787 LNCATV LOC101928068 SMYD3-AS1 LINC01698 LINC02608 LINC01740 LINC01653 LINC01352 LINC01655 HSD11B1-AS1 MIR6742 MIR6741 LPGAT1-AS1 LINC02773 CNIH3-AS2 USH2A-AS2 LYPLAL1-AS1 SLC35F3-AS1 LOC102724446 TGFB2-OT1 SPATA17-AS1 DISC1-IT1 LINC02767 LINC02769 LINC01717 LINC01774 LINC01696 LINC02771 USH2A-AS1 LINC01710 LINC02779 LINC02257 CNIH3-AS1 LINC02765 LINC01703 LINC02815 RAB4A-AS1 LINC01745 LOC105373209 LINC02768 LOC105373289 NTRAS SNORA100 LOC107325941 LOC107325942 LOC107546745 LOC107546746 LOC107546747 LOC107546778 LOC107546780 LOC107548103 ZNF496-DT LINC02602 ACBD3-AS1 LOC107985355 LINC01641 LOC108004528 LOC110120610 LOC110120698 LOC110120807 LOC110121042 LOC110121057 LOC110121205 LOC110121251 LOC110121257 LOC110121263 LOC110121264 LOC110121265 LOC110121266 LOC110121306 LOC110121307 LINC02474 KIF26B-AS1 LOC111365197 LOC111365208 LOC111429604 LOC111828504 LINC02814 LOC112577533 LOC112577534 LOC112577535 LOC112577536 LOC112577537 LOC112577538 LOC112577542 LOC112577543 LOC112577544 LOC112577545 LOC112577546 LOC112577547 LOC112577548 LOC112577552 LOC112577554 LOC112577555 LOC112577556 LOC112577557 LOC112577558 LOC112577559 LOC112577560 LOC112577561 LOC112577565 LOC112577566 LOC112577567 LOC112577568 LOC112577569 LOC113939983 LOC113939984 LOC113939987 LOC115804244 LOC115804245 LOC115804246 LOC115804247 LOC115804248 LOC115804249 LOC115804250 LOC115804251 LOC115804252 LOC115804253 LOC115804254 LOC115804255 LOC115804256 H3-3A-DT LOC120807606 LOC120807610 LOC120908903 LOC120908904 LOC120908905 LOC120908906 LOC120908907 LOC120908908 LOC120908909 LOC120908910 LOC120908911 LOC120908912 LOC120908913 LOC120908914 LOC120908915 LOC120908916 LOC120908917 LOC120908918 LOC120908919 LOC120908920 LOC120908921 LOC120908922 LOC120908923 LOC120947224 LOC121725072 LOC121725073 LOC121725074 LOC121725075 LOC121725076 LOC122149487 LOC122149488 LOC122149489 LOC122149490 LOC122149491 LOC122149492 LOC122149493 LOC122149494 LOC122149495 LOC122149496 LOC122149497 LOC122152293 LOC122152294 LOC122152295 LOC122152296 LOC122152297 LOC122152298 LOC122152299 LOC122152300 LOC122152301 LOC122152302 LOC122152303 LOC122152304 LOC122152305 LOC122152306 LOC122152307 LOC122152308 LOC122152309 LOC122152310 LOC122152311 LOC122152312 LOC122152313 LOC122152314 LOC122152315 LOC122152316 LOC122152317 LOC122152318 LOC122152319 LOC122152320 LOC122152321 LOC122152322 LOC122152332 LOC122152333 LOC122152334 LOC122152335 LOC122152336 LOC122152337 LOC122152338 LOC122152339 LOC122152340 LOC122152341 LOC122152342 LOC122152343 LOC122152344 LOC122152345 LOC122152346 LOC122152347 LOC122152348 LOC122152349 LOC122152350 LOC122152351 LOC122152352 LOC122152353 LOC122152354 LOC122152355 LOC122152356 LOC122152357 LOC122152358 LOC122152359 LOC122152360 LOC122152361 LOC122152362 ZNF692-DT C1orf202 LOC122526782 LINC02971 LOC126264117 LOC126805994 LOC126805995 LOC126805996 LOC126805997 LOC126805998 LOC126805999 LOC126806000 LOC126806001 LOC126806002 LOC126806003 LOC126806004 LOC126806005 LOC126806006 LOC126806007 LOC126806008 LOC126806009 LOC126806010 LOC126806011 LOC126806012 LOC126806013 LOC126806014 LOC126806015 LOC126806016 LOC126806017 LOC126806018 LOC126806019 LOC126806020 LOC126806021 LOC126806022 LOC126806023 LOC126806024 LOC126806025 LOC126806026 LOC126806027 LOC126806028 LOC126806029 LOC126806030 LOC126806031 LOC126806032 LOC126806033 LOC126806034 LOC126806035 LOC126806036 LOC126806037 LOC126806038 LOC126806039 LOC126806040 LOC126806041 LOC126806042 LOC126806043 LOC126806044 LOC126806045 LOC126806046 LOC126806047 LOC126806048 LOC126806049 LOC126806050 LOC126806051 LOC126806052 LOC126806053 LOC126806054 LOC126806055 LOC126806056 LOC126806057 LOC126806058 LOC126806059 LOC126806060 LOC126806061 LOC126806062 LOC126806063 LOC126806064 LOC126806065 LOC126806066 LOC126806067 LOC126806068 LOC126806069 LOC126806070 LOC126806071 LOC126806072 LOC126806073 LOC126806074 LOC126806075 LOC126806076 LOC126806077 LOC126806078 LOC126806079 LOC126806080 LOC126806081 LOC126806082 LOC126806083 LOC126806084 LOC126806085 LOC126806086 LOC126806087 LOC126806088 LOC126806089 LOC126806090 LOC128598893 LOC128598894 LOC128635606 LOC128635607 LOC128772240 LOC128772241 LOC128772242 LOC128772243 LOC128772244 LOC128772245 LOC129388733 LOC129388734 LOC129388735 LOC129388736 LOC129388737 LOC129388738 LOC129388739 LOC129388740 LOC129388741 LOC129388742 LOC129388743 LOC129388744 LOC129388745 LOC129388746 LOC129388747 LOC129388748 LOC129388749 LOC129388750 LOC129388751 LOC129388752 LOC129388753 LOC129388754 LOC129388755 LOC129388756 LOC129388757 LOC129388758 LOC129388759 LOC129388760 LOC129388761 LOC129388762 LOC129388763 LOC129388764 LOC129388765 LOC129388766 LOC129388767 LOC129388768 LOC129388769 LOC129388770 LOC129388771 LOC129388772 LOC129388773 LOC129388774 LOC129388775 LOC129388776 LOC129388777 LOC129388778 LOC129388779 LOC129388780 LOC129388781 LOC129388782 LOC129388783 LOC129388784 LOC129388785 LOC129388786 LOC129388787 LOC129388788 LOC129388789 LOC129388790 LOC129388791 LOC129388792 LOC129388793 LOC129388794 LOC129388795 LOC129388796 LOC129388797 LOC129388798 LOC129388799 LOC129388800 LOC129388801 LOC129388802 LOC129388803 LOC129388804 LOC129388805 LOC129388806 LOC129388807 LOC129388808 LOC129388809 LOC129388810 LOC129388811 LOC129388812 LOC129388813 LOC129869688 LOC129929020 LOC129932398 LOC129932399 LOC129932400 LOC129932401 LOC129932402 LOC129932403 LOC129932404 LOC129932405 LOC129932406 LOC129932407 LOC129932408 LOC129932409 LOC129932410 LOC129932411 LOC129932412 LOC129932413 LOC129932414 LOC129932415 LOC129932416 LOC129932417 LOC129932418 LOC129932419 LOC129932420 LOC129932421 LOC129932422 LOC129932423 LOC129932424 LOC129932425 LOC129932426 LOC129932427 LOC129932428 LOC129932429 LOC129932430 LOC129932431 LOC129932432 LOC129932433 LOC129932434 LOC129932435 LOC129932436 LOC129932437 LOC129932438 LOC129932439 LOC129932440 LOC129932441 LOC129932442 LOC129932443 LOC129932444 LOC129932445 LOC129932446 LOC129932447 LOC129932448 LOC129932449 LOC129932450 LOC129932451 LOC129932452 LOC129932453 LOC129932454 LOC129932455 LOC129932456 LOC129932457 LOC129932458 LOC129932459 LOC129932460 LOC129932461 LOC129932462 LOC129932463 LOC129932464 LOC129932465 LOC129932466 LOC129932467 LOC129932468 LOC129932469 LOC129932470 LOC129932471 LOC129932472 LOC129932473 LOC129932474 LOC129932475 LOC129932476 LOC129932477 LOC129932478 LOC129932479 LOC129932480 LOC129932481 LOC129932482 LOC129932483 LOC129932484 LOC129932485 LOC129932486 LOC129932487 LOC129932488 LOC129932489 LOC129932490 LOC129932491 LOC129932492 LOC129932493 LOC129932494 LOC129932495 LOC129932496 LOC129932497 LOC129932498 LOC129932499 LOC129932500 LOC129932501 LOC129932502 LOC129932503 LOC129932504 LOC129932505 LOC129932506 LOC129932507 LOC129932508 LOC129932509 LOC129932510 LOC129932511 LOC129932512 LOC129932513 LOC129932514 LOC129932515 LOC129932516 LOC129932517 LOC129932518 LOC129932519 LOC129932520 LOC129932521 LOC129932522 LOC129932523 LOC129932524 LOC129932525 LOC129932526 LOC129932527 LOC129932528 LOC129932529 LOC129932530 LOC129932531 LOC129932532 LOC129932533 LOC129932534 LOC129932535 LOC129932536 LOC129932537 LOC129932538 LOC129932539 LOC129932540 LOC129932541 LOC129932542 LOC129932543 LOC129932544 LOC129932545 LOC129932546 LOC129932547 LOC129932548 LOC129932549 LOC129932550 LOC129932551 LOC129932552 LOC129932553 LOC129932554 LOC129932555 LOC129932556 LOC129932557 LOC129932558 LOC129932559 LOC129932560 LOC129932561 LOC129932562 LOC129932563 LOC129932564 LOC129932565 LOC129932566 LOC129932567 LOC129932568 LOC129932569 LOC129932570 LOC129932571 LOC129932572 LOC129932573 LOC129932574 LOC129932575 LOC129932576 LOC129932577 LOC129932578 LOC129932579 LOC129932580 LOC129932581 LOC129932582 LOC129932583 LOC129932584 LOC129932585 LOC129932586 LOC129932587 LOC129932588 LOC129932589 LOC129932590 LOC129932591 LOC129932592 LOC129932593 LOC129932594 LOC129932595 LOC129932596 LOC129932597 LOC129932598 LOC129932599 LOC129932600 LOC129932601 LOC129932602 LOC129932603 LOC129932604 LOC129932605 LOC129932606 LOC129932607 LOC129932608 LOC129932609 LOC129932610 LOC129932611 LOC129932612 LOC129932613 LOC129932614 LOC129932615 LOC129932616 LOC129932617 LOC129932618 LOC129932619 LOC129932620 LOC129932621 LOC129932622 LOC129932623 LOC129932624 LOC129932625 LOC129932626 LOC129932627 LOC129932628 LOC129932629 LOC129932630 LOC129932631 LOC129932632 LOC129932633 LOC129932634 LOC129932635 LOC129932636 LOC129932637 LOC129932638 LOC129932639 LOC129932640 LOC129932641 LOC129932642 LOC129932643 LOC129932644 LOC129932645 LOC129932646 LOC129932647 LOC129932648 LOC129932649 LOC129932650 LOC129932651 LOC129932652 LOC129932653 LOC129932654 LOC129932655 LOC129932656 LOC129932657 LOC129932658 LOC129932659 LOC129932660 LOC129932661 LOC129932662 LOC129932663 LOC129932664 LOC129932665 LOC129932666 LOC129932667 LOC129932668 LOC129932669 LOC129932670 LOC129932671 LOC129932672 LOC129932673 LOC129932674 LOC129932675 LOC129932676 LOC129932677 LOC129932678 LOC129932679 LOC129932680 LOC129932681 LOC129932682 LOC129932683 LOC129932684 LOC129932685 LOC129932686 LOC129932687 LOC129932688 LOC129932689 LOC129932690 LOC129932691 LOC129932692 LOC129932693 LOC129932694 LOC129932695 LOC129932696 LOC129932697 LOC129932698 LOC129932699 LOC129932700 LOC129932701 LOC129932702 LOC129932703 LOC129932704 LOC129932705 LOC129932706 LOC129932707 LOC129932708 LOC129932709 LOC129932710 LOC129932711 LOC129932712 LOC129932713 LOC129932714 LOC129932715 LOC129932716 LOC129932717 LOC129932718 LOC129932719 LOC129932720 LOC129932721 LOC129932722 LOC129932723 LOC129932724 LOC129932725 LOC129932726 LOC129932727 LOC129932728 LOC129932729 LOC129932730 LOC129932731 LOC129932732 LOC129932733 LOC129932734 LOC129932735 LOC129932736 LOC129932737 LOC129932738 LOC129932739 LOC129932740 LOC129932741 LOC129932742 LOC129932743 LOC129932744 LOC129932745 LOC129932746 LOC129932747 LOC129932748 LOC129932749 LOC129932750 LOC129932751 LOC129932752 LOC129932753 LOC129932754 LOC129932755 LOC129932756 LOC129932757 LOC129932758 LOC129932759 LOC129932760 LOC129932761 LOC129932762 LOC129932763 LOC129932764 LOC129932765 LOC129932766 LOC129932767 LOC129932768 LOC129932769 LOC129932770 LOC129932771 LOC129932772 LOC129932773 LOC129932774 LOC129932775 LOC129932776 LOC129932777 LOC129932778 LOC129932779 LOC129932780 LOC129932781 LOC129932782 LOC129932783 LOC129932784 LOC129932785 LOC129932786 LOC129932787 LOC129932788 LOC129932789 LOC129932790 LOC129932791 LOC129932792 LOC129932793 LOC129932794 LOC129932795 LOC129932796 LOC129932797 LOC129932798 LOC129932799 LOC129932800 LOC129932801 LOC129932802 LOC129932803 LOC129932804 LOC129932805 LOC129932806 LOC129932807 LOC129932808 LOC129932809 LOC129932810 LOC129932811 LOC129932812 LOC129932813 LOC129932814 LOC129932815 LOC129932816 LOC129932817 LOC129932818 LOC129932819 LOC129932820 LOC129932821 LOC129932822 LOC129932823 LOC129932824 LOC129932825 LOC129932826 LOC129932827 LOC129932828 LOC129932829 LOC129932830 LOC129932831 LOC129932832 LOC129932833 LOC129932834 LOC129932835 LOC129932836 LOC129932837 LOC129932838 LOC129932839 LOC129932840 LOC129932841 LOC129932842 LOC129932843 LOC129932844 LOC129932845 LOC129932846 LOC129932847 LOC129932848 LOC129932849 LOC129932850 LOC129932851 LOC129932852 LOC129932853 LOC129932854 LOC129932855 LOC129932856 LOC129932857 LOC129932858 LOC129932859 LOC129932860 LOC129932861 LOC129932862 LOC129932863 LOC129932864 LOC129932865 LOC129932866 LOC129932867 LOC129932868 LOC129932869 LOC129932870 LOC129932871 LOC129932872 LOC129932873 LOC129932874 LOC129932875 LOC129932876 LOC129932877 LOC129932878 LOC129932879 LOC129932880 LOC129932881 LOC129932882 LOC129932883 LOC129932884 LOC129932885 LOC129932886 LOC129932887 LOC129932888 LOC129932889 LOC129932890 LOC129932891 LOC129932892 LOC129932893 LOC129932894 LOC129932895 LOC129932896 LOC129932897 LOC129932898 LOC129932899 LOC129932900 LOC129932901 LOC129932902 LOC129932903 LOC129932904 LOC129932905 LOC129932906 LOC129932907 LOC129932908 LOC129932909 LOC129932910 LOC129932911 LOC129932912 LOC129932913 LOC129932914 LOC129932915 LOC129932916 LOC129932917 LOC129932918 LOC129932919 LOC129932920 LOC129932921 LOC129932922 LOC129932923 LOC129932924 LOC129932925 LOC129932926 LOC129932927 LOC129932928 LOC129932929 LOC129932930 LOC129932931 LOC129932932 LOC129932933 LOC129932934 LOC129932935 LOC129932936 LOC129932937 LOC129932938 LOC129932939 LOC129932940 LOC129932941 LOC129932942 LOC129932943 LOC129932944 LOC129932945 LOC129932946 LOC129932947 LOC129932948 LOC129932949 LOC129932950 LOC129932951 LOC129932952 LOC129932953 LOC129932954 LOC129932955 LOC129932956 LOC129932957 LOC129932958 LOC129932959 LOC129932960 LOC129932961 LOC129932962 LOC129932963 LOC129932964 LOC129932965 LOC129932966 LOC129932967 LOC129932968 LOC129932969 LOC129932970 LOC129932971 LOC129932972 LINC03108 LOC132088616 LOC132088617 LOC132088618 LOC132088619 LOC132088620 LOC132088621 LOC132088622 LOC132088623 LOC132088627 LOC132088628 LOC132088629 LOC132088630 LOC132088631 LOC132088632 LOC132088633 LOC132088634 LOC132088635 LOC132088636 LOC132088637 LOC132088638 LOC132088639 LOC132088640 LOC132088641 LOC132088644 LOC132088646 LOC132088647 LOC132088648 LOC132088649 LOC132088650 LOC132088651 LOC132088652 LOC132088653 LOC132088654 LOC132088656 LOC132088657 LOC132088658 LOC132088659 LOC132088660 LOC132088661 LOC132088662 LOC132088663 LOC132088664 LOC132088666 LOC132088667 LOC132088670 LOC132088671 LOC132088673 LOC132088674 LOC132088676 LOC132088677 LOC132088678 LOC132088679 LOC132088680 LOC132088681 LOC132088683 LOC132088684 LOC132088685 LOC132088686 LOC132090672 LOC132090673 LOC132090674 LOC132090675 LOC132090676 LOC132090677 LOC132205953
Associated Variants
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3
Source Database
ClinVar
Description
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 AND See cases
ClinVar Allele ID
165414
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2014-03-10
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000143727
Observed Origin Sample
not provided
Drugs