GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 Detail (hg19) (ACAT1, ACP2, ACRV1, ACTN3, ADM, GRK2, AP2A2, APLNR, ALDH3B1, ALDH3B2, AMPD3, APBB1, BIRC2, BIRC3, APLP2, APOA1, APOA4, APOC3, ARCN1, RHOG, ARHGAP1, PHOX2A, ARL2, BMAL1, ARRB1, ART1, ASCL2, ATM, FXYD2, BAD, BBS1, CCND1, BDNF, CXCR5, SERPING1, CAPN5, VPS51, MRPL49, ZNHIT2, MPPED2, MYRF, TMEM258, DAGLA, CALCA, CALCB, CAPN1, CARS1, CASP1, CASP4, CASP5, CAT, CBL, SERPINH1, CCKBR, CD3D, CD3E, CD3G, CD5, CD6, MS4A1, MS4A3, CD44, CD59, CD81, CD151, CDKN1C, CFL1, CTSC, CHEK1, CHKA, CHRM1, CHRM4, TPP1, CLNS1A, CNGA4, CNTF, COPB1, COX8A, CPT1A, CRY2, CRYAB, CST6, CSTF3, CTNND1, CTSD, CTSW, DDB1, DDB2, DDX6, DDX10, DHCR7, DLAT, DLG2, DPAGT1, DRD2, DRD4, DUSP8, EEF1G, EIF4G2, ELF5, MARK2, CTTN, ESRRA, ETS1, EXT2, F2, FANCF, FAU, MS4A2, FDX1, FEN1, FGF3, FGF4, FKBP2, FLI1, FOLH1, FOLR1, FOLR2, FOLR3, FSHB, FTH1, FUT4, SLC37A4, LRRC32, GAS2, CBLIF, GNG3, GRIA4, GRIK4, GRM5, GSTP1, GTF2H1, GUCY1A2, H2AX, HBB, HBD, HBE1, HBG1, HBG2, HMBS, SLC29A2, HPX, HRAS, HSPA8, HSPB2, DNAJC4, HTR3A, IGF2, IGHMBP2, IL10RA, IL18, ILK, INCENP, INS, INPPL1, IRF7, STT3A, CD82, KCNA4, KCNC1, KCNJ1, KCNJ5, KCNJ11, KCNQ1, KRTAP5-9, LDHA, LDHC, FADS1, FADS3, LMO1, LMO2, VWA5A, LRP4, LRP5, LSP1, LTBP3, CAPRIN1, MAP6, MCAM, MDK, MEN1, SCGB2A1, SCGB2A2, MAP3K11, KMT2A, MMP1, MMP3, MMP7, MMP8, MMP10, MMP12, MMP13, MRE11, MTNR1B, MUC2, MUC5AC, MUC6, MYBPC3, MYO7A, MYOD1, NAP1L4, NCAM1, NDUFC2, NDUFS3, NDUFV1, NDUFS8, NELL1, NFRKB, NNMT, NPAT, NRGN, NUCB2, NUMA1, NUP98, OMP, OPCML, SLC22A18, SLC22A18AS, OSBP, OVOL1, P2RX3, P2RY2, P2RY6, PAFAH1B2, PAK1, PAX6, PC, PDE2A, PDE3B, PGA5, PGR, PIK3C2A, PLCB3, POLR2G, POLR2L, POU2AF1, PPP1CA, PPP2R1B, PPP2R5B, PRCP, PRG2, THAP12, PSMA1, PSMC3, PSMD13, PTH, PTPRCAP, PTPRJ, PTS, NECTIN1, PYGM, RAB3IL1, RAB6A, MAP4K2, RAD9A, RAG1, RAG2, RAPSN, PLAAT4, RBM4, RCN1, RDX, RELA, DPF2, RNH1, SNORD15A, ROM1, MRPL23, RPL27A, RPLP2, RPS3, RPS6KB2, RPS13, RPS25, RRM1, SAA1, SAA2, SAA4, SC5D, SCN2B, SCN4B, SCT, SDHD, ST3GAL4, SIPA1, SLC1A2, SLC3A2, SLN, SMPD1, SORL1, SPI1, SPTBN2, SRPRA, TRIM21, SSRP1, DENND2B, ST14, STIM1, STX3, STX5, ABCC8, TAGLN, TAF10, TALDO1, TCN1, TEAD1, TECTA, TH, THRSP, THY1, TSPAN4, TM7SF2, TNNI2, TNNT3, TPH1, TRAF6, TRPC6, TSG101, PHLDA2, TUB, TYR, UCP2, UCP3, SCGB1A1, UPK2, UVRAG, VEGFB, BEST1, WEE1, WNT11, WT1, SF1, ZFPL1, ZNF143, ZBTB16, ZNF195, ZNF202, ZNF214, ZNF215, RASSF7, CSRP3, PDHX, FOSL1, CUL5, PICALM, FZD4, BBOX1, PPFIBP2, PPFIA1, SLC43A1, IFITM1, DGKZ, CHST1, BARX2, API5, MADD, OR6A2, DCHS1, EIF3F, JRKL, CTSF, EED, FADD, BANF1, ZPR1, MTMR2, RPS6KA4, BRSK2, AIP, SYT7, SART1, USP2, SLC6A5, FIBP, PCSK7, HTR3B, ZW10, MTA2, UBE2L6, SNORD29, SNORD31, SNORD30, SNORD28, SNORD27, SNORD26, SNORD25, SNORD22, MMP20, UBE4A, SLC22A6, SLC22A8, NRXN2, LPXN, PEX16, FADS2, MED17, MAPK8IP1, TP53I11, EI24, PITPNM1, RIN1, TESMIN, FEZ1, MICAL2, CTR9, CEP57, ARHGAP32, ATG13, SPCS2, CKAP5, ARHGEF17, GAB2, C2CD2L, TRIM66, FCHSD2, FGF19, CCS, RCE1, NAALAD2, NAALADL1, KCNE3, NR1H3, IL18BP, DPP3, TSPAN32, TSSC4, USH1C, KCNK7, HIPK3, RBM7, PRMT3, MPZL2, RASGRP2, GLYAT, CDK2AP2, TCIRG1, RTN3, IRAG1, TRIM22, PRG3, IFITM3, YAP1, SPON1, RBM14, CDC42EP2, EIF3M, NXF1, DEAF1, KAT5, HYOU1, IPO7, ZNRD2, HTATIP2, IFITM2, DRAP1, TRIM3, TAF6L, ATP5MG, SCGB1D2, SCGB1D1, CELF1, POLD3, OR5I1, STARD10, NEU3, ME3, GPR83, LYVE1, YIF1A, SRSF8, EHD1, C11orf58, STIP1, CLP1, KCNQ1OT1, SF3B2, CCDC85B, B4GAT1, ADAMTS8, PRSS23, PLAAT3, TREH, PKP3, HPS5, PTGDR2, SLCO2B1, RRAS2, CEP164, ZP1, SHANK2, KDM2A, IGSF9B, ENDOD1, SWAP70, EXPH5, ATG2A, PHLDB1, GANAB, FAM168A, DTX4, SIK2, DENND5A, NUP160, NCAPD3, FNBP4, ARHGEF12, RRP8, SIK3, SIRT3, CLCF1, OR52A1, VSIG2, BACE1, FAM89B, SNHG1, ARFIP2, POLA2, TRIM29, RAB38, CADM1, FLRT1, MTCH2, PANX1, FJX1, KIAA1549L, PRDX5, POU2F3, ABTB2, BRMS1, CATSPERZ, CHRDL2, PAMR1, ANAPC15, ZDHHC5, ATL3, TSKU, HINFP, REXO2, C2CD3, TKFC, TENM4, B3GAT3, FBXO3, SERGEF, EHF, OR5L2, PPP1R14B, OR8B8, OR8G1, OR10A3, TIMM10B, TIMM10, TIMM8B, MYEOV, BSCL2, OR8B2, ELP4, CHORDC1, ACAD8, B3GAT1, DKK3, RBMXL2, RAB30, PGAP2, PRPF19, DCPS, C11orf54, AAMDC, MACROD1, SLC43A3, ZBTB44, THYN1, COMMD9, DDX25, C11orf21, PACSIN3, TRPM5, SAC3D1, SNX15, RHOD, EFEMP2, NOX4, UBQLN3, KCNK4, RNF141, NTM, CDON, UBXN1, APIP, TMX2, GAL, SIDT2, KMT5B, HSD17B12, IGF2-AS, TMEM216, CEND1, COA4, SLC15A3, PHF21A, MS4A4A, WT1-AS, TRAPPC4, PPME1, CABP2, HIKESHI, CWC15, TRMT112, TMEM138, PCF11, MRPL48, CYB5R2, RSF1, SPA17, FXYD6, C11orf24, TRIM34, CDHR5, CNTN5, SIAE, TOLLIP, C11orf71, ZDHHC13, ROBO4, WDR74, SLC35F2, RAB39A, TRIM44, BTG4, NXPE4, SYTL2, ANKRD49, MS4A12, MRPL16, SDHAF2, SSH3, TTC12, TMEM132A, PLAAT2, LAMTOR1, USP47, VPS37C, ANO1, TRIM68, NADSYN1, FAM86C1P, NKAPD1, NAT10, CCDC87, PPP6R3, UEVLD, RNF121, LIN7C, ACER3, SLC35C1, TCP11L1, LGR4, PIDD1, ELMOD1, KCNQ1DN, SOX6, CDC42BPG, FOXRED1, OTUB1, AMBRA1, PACS1, KDM4D, KBTBD4, PARVA, TTC17, SCN3B, VPS11, TMEM126B, SLC22A11, TEX12, CRTAM, MMP26, TMPRSS4, AKIP1, C11orf16, TMEM9B, NRIP3, ASCL3, GPR137, IFT46, SMCO4, EMSY, PRDM10, PRDM11, CABP4, CHRNA10, SLC17A6, TRIM49, PNPLA2, CD248, CORO1B, SCYL1, DSCAML1, GRAMD1B, USP35, CEP126, ARHGAP20, CARNS1, SYT13, USP28, PHRF1, LRRC4C, SCUBE2, POLD4, KRTAP5-8, PLEKHB1, MS4A7, ZBED5, CREBZF, CARD18, SIGIRR, CCDC90B, CCDC81, AASDHPPT, ALX4, MRPL17, PKNOX2, FAM111A, TP53AIP1, ANO3, MMP27, ABCG4, ROBO3, MS4A6A, MS4A5, CFAP68, EPS8L2, KLC2, TUT1, MRPL11, TMEM135, STK33, KCTD14, ZFTA, CHID1, LRFN4, AHNAK, ALG8, PRRG4, TMEM223, TMEM109, CCDC86, LBHD1, CSTPP1, TRIM48, TAF1D, RNF26, OR51G1, OR51B4, OR51B2, OR52N1, FAM118B, RIC3, DYNC2H1, NLRX1, MSANTD2, TOP6BL, NARS2, E2F8, SLC25A22, CCDC82, ALG9, ZNF408, CLMP, NAA40, QSER1, AGBL2, ZBTB3, NHERF4, JHY, CPSF7, PRR5L, CCDC15, ASRGL1, PGGHG, MOGAT2, TMEM134, MUS81, PAAF1, PDGFD, INTS5, ZFP91, TMPRSS5, OR8J3, OR51G2, OR51E2, OR4P4, OR4C15, OR4A5, OR4A16, OR4A15, OR10W1, PTDSS2, MOB2, GDPD5, CLPB, UNC93B1, SBF2, RAB1B, KIF18A, PUS3, MFRP, C11orf68, MS4A8, JAM3, FERMT3, TRPT1, RBM4B, FRMD8, BCO2, TMPRSS13, FHIP1B, RNASEH2C, FAR1, TMEM126A, DCUN1D5, BTBD10, EIF1AD, NUDT22, ARFGAP2, MSANTD4, MAML2, SYVN1, KIRREL3, DGAT2, ACCS, MS4A14, TRIM51, BUD13, TMEM25, PTPN5, RPUSD4, TBRG1, RELT, UBASH3B, CFAP300, LGALS12, TRIM5, TNKS1BP1, DIXDC1, CEP295, ZC3H12C, GAL3ST3, NAV2, ATG16L2, GLB1L2, SYT8, TSPAN18, ESAM, CREB3L1, AP5B1, CCDC34, SLC39A13, DEPDC7, SYT12, ACY3, ALKBH8, FDXACB1, C11orf52, INTS4, GLYATL1, CAVIN3, VPS26B, GLB1L3, CDCA5, SAAL1, SLC22A9, TIRAP, CARD16, OSBPL5, C1QTNF4, C1QTNF5, TMEM123, PTPMT1, LRRC56, BATF2, SLC22A12, PANX3, MRGPRD, APOA5, MRGPRE, MRGPRF, ART5, ARAP1, CATSPER1, MRGPRX2, MRGPRX3, MRGPRX4, PLAAT5, TRIM6, OR52E2, OR52J3, OR51L1, OR51A7, OR51S1, OR51F2, OR52R1, IFTAP, OR4C46, OR4X2, OR4B1, OR52M1, OR52K2, OR5P2, OR5P3, LARGE2, SLC36A4, FAT3, TRIM64, TMEM45B, CYP2R1, DBX1, POU2AF3, PIH1D2, NXPE1, NXPE2, JAML, DNAJC24, ARL14EP, OR8I2, OR2D3, OR2D2, OR52W1, OR56A4, OR56A1, SYT9, LDLRAD3, OR52B4, C11orf40, OR52I2, OR51E1, XRRA1, UBQLNL, MUC15, FREY1, FAM76B, SESN3, PIWIL4, ARHGAP42, KBTBD3, CWF19L2, POGLUT3, LAYN, TTC36, SPINDOC, PLEKHA7, SPTY2D1, TMEM86A, OR10A5, OR2AG1, DNHD1, AMOTL1, SLC5A12, DEUP1, PATE1, C11orf65, LDHAL6A, C11orf42, GPHA2, ADAMTS15, NLRP6, B3GNT6, METTL15, MPZL3, IMMP1L, OR56B4, ANO5, OR8U1, OR4C16, OR4C11, OR4S2, OR4C6, OR5D14, OR5L1, OR5D18, OR5AS1, OR8K5, OR5T2, OR8H1, OR8K3, OR8J1, OR8U3, OR5M3, OR5M8, OR5M11, OR5AR1, LRRC55, SMTNL1, YPEL4, MED19, FOLH1B, KCNJ5-AS1, HYLS1, TMEM218, SLC37A2, OR8B12, OR8G5, OR10G8, OR10G9, OR10S1, OR6T1, OR4D5, TBCEL, TLCD5, MRPL21, TPCN2, SPATA19, OR6Q1, OR9I1, OR9Q1, OR9Q2, OR1S2, OR1S1, OR10Q1, OR5B17, OR5B21, GLYATL2, MPEG1, OR5A2, OR5A1, OR4D6, OR4D11, PATL1, OOSP2, MS4A15, VWCE, CYB561A3, SAXO4, GDPD4, DDIAS, CCDC83, LTO1, LRTOMT, HEPACAM, OAF, TIGD3, FAM181B, CCDC89, LRRN4CL, HNRNPUL2, ALKBH3, MS4A6E, DEFB108B, PELI3, ANGPTL5, EHBP1L1, SNX32, TSGA10IP, RNF169, CNIH2, ZDHHC24, C11orf86, NUDT8, ANKK1, OR52B2, OR4C3, OR4S1, LMNTD2, EML3, TMEM151A, OR51F1, RNF214, SVIP, MRGPRX1, NPAS4, SELENOH, AQP11, OR51B5, OR10AG1, OR5J2, OR4C13, OR4C12, CSNK2A3, OR51V1, TRIM49B, H19, MAJIN, SLC25A45, NEAT1, BCL9L, FOXR1, DRC12, OR8D1, OR8D2, OR8B4, LINC02873, OR9G4, P4HA3, PGM2L1, KLHL35, KCTD21, CRACR2B, TMEM80, CCDC88B, TTC9C, SLC22A24, RCOR2, HARBI1, LINC00294, IGSF22, OR10A4, OLFML1, NLRP10, NLRP14, ANO9, LUZP2, CENATAC, TMEM225, OR8D4, OR5F1, OR5AP2, ANKRD13D, ANKRD42, B4GALNT4, OR52L1, OR2AG2, OR52B6, OTOG, DCDC1, POU2AF2, MS4A10, OR2AT4, HEPHL1, OR10A2, OVCH2, TBX10, GATD1, PLET1, RTN4RL2, GALNT18, NCR3LG1, FAM111B, TMEM179B, TBC1D10C, DNAJB13, MALAT1, MRGPRG, KRTAP5-1, KRTAP5-3, KRTAP5-4, KRTAP5-10, SLC22A25, IFITM5, OR56B1, INSC, FIBIN, C11orf96, SLC22A10, SPDYC, LIPT2, VSTM5, OR52K1, OR52I1, OR51D1, OR52A5, OR51B6, OR51M1, OR51Q1, OR51I1, OR51I2, OR52D1, OR52H1, OR52N4, OR52N5, OR52N2, OR52E6, OR52E8, OR52E4, OR56A3, OR56A5, OR10A6, ACCSL, OR4X1, OR5D13, OR5D16, OR5W2, OR8H2, OR8H3, OR5T3, OR5T1, OR8K1, OR5M9, OR5M10, OR5M1, OR9G1, OR5AK2, OR5B2, OR5B12, OR5AN1, OR4D10, OR4D9, OR10V1, LRRC10B, GPR152, TRIM77, IZUMO1R, KDM4E, BSX, OR6X1, OR6M1, OR10G4, OR10G7, OR8B3, OR8A1, FAM180B, PCNX3, TRIM49D1, C11orf87, HOATZ, PATE2, PATE4, SNX19, OR51T1, OR51A4, OR51A2, IFITM10, OR4A47, SCGB1D4, MIRLET7A2, MIR100, MIR125B1, MIR130A, MIR139, MIR192, MIR194-2, MIR210, MIR34B, MIR34C, DDI1, BLID, KRTAP5-5, KRTAP5-2, KRTAP5-6, TMEM41B, KRTAP5-7, KRTAP5-11, CARD17P, OR5B3, MIR326, CCDC73, BDNF-AS, MS4A13, HEPN1, TRIM64B, TRIM49C, UBTFL1, BTBD18, MS4A4E, PGA3, PGA4, CLDN25, RASSF10, LINC02743, TRIM64C, SNORA3B, LMNTD2-AS1, MIR610, INS-IGF2, MUC5B, MIR34BHG, MS4A18, LINC02714, TRIM49D2, CSKMT, UQCC3, C11orf91, ZNF705EP, LOC100132686, PATE3, ARHGEF17-AS1, BACE1-AS, MTRNR2L8, CCDC179, NDUFV1-DT, ARAP1-AS2, MIR210HG, CASP12, TPBGL, RBM14-RBM4, SAA2-SAA4, NDUFC2-KCTD14, FXYD6-FXYD2, MADD-AS1, LOC101929473)

Information

Genome

Assembly	Position
hg19	chr11:230,616-134,938,470
hg38	chr11:230,616-135,068,576

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Damaging scores predicted by bioinformatics tools

Neutral Damaging

SEE MORE

Links

Type	Database	ID	Link
Gene	MIM
	HGNC
	Ensembl
	NCBI
	Gene Cards
	OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2014-12-02	no assertion criteria provided		not provided	Detail
Pathogenic	2015-07-14	no assertion criteria provided		not provided	Detail