Annotation Detail

Information
Associated Genes
AMELX SLC25A6 SHROOM2 ARAF ARHGAP6 STS ARSD ARSL ARSF ASMT CACNA1F CYBB FGD1 GLRA2 ANOS1 MAGEB1 MAGEB2 MAGEB3 MAGEB4 MAOA MAOB NHS OTC PLP2 RBBP7 RBM3 SAT1 SCML1 SSX1 SSX2 SSX5 SSX4 DYNLT3 TIMP1 TSPAN7 TMSB4X KDM6A WAS ZNF157 SRPX UXT PAGE1 AKAP4 AP1S2 GYG2 BMP15 MED14 PCYT1B MAGED1 XAGE2 PAGE4 SSX3 SCML2 PRDX4 MAGED2 IL1RAPL1 PRAF2 CA5B KLF8 IQSEC2 ACOT9 MXRA5 GAGE12I GAGE2E GPR82 MIR6895 MBTPS2 FTHL17 GNL3L FAM120C GEMIN8 OTUD5 TXLNG WWC3 NYX MAGED4B CCDC120 TSR2 FUNDC1 PTCHD1 PPP4R3C MAGEB10 DCAF8L1 MAGEB16 FOXR2 XAGE-4 PAGE3 ASB11 ASB9 MAGEB6 USP51 CXorf38 DDX53 SPIN3 FAM47B SUPT20HL2 ZNF81 TLR8-AS1 MAGEB6B GLOD5 LINC02595 ZNF674-AS1 LOC401589 YY2 MIRLET7F2 FAM47C MIR500A MIR501 MIR502 GAGE2B GAGE13 GAGE12G MAGEB17 LINC01545 TAB3-AS1 SSX2B FAM156B MAGED4 SPACA5B GAGE12F GS1-600G8.3 GAGE8 GAGE12D SCARNA9L CLDN34 MIR500B MIR3915 MIR4768 MIR1587 MIR548AJ2 MIR4666B MIR4536-2 MIR548AX MED14OS PPEF1-AS1 MID1IP1-AS1 LINC01204 S100G CLCN4 CLCN5 DMD FANCB GAGE2C GATA1 GPM6B GPR34 HSD17B10 HCCS NDP GPR143 TBC1D25 PDK3 CFP PFKFB1 PRKX PRPS2 PRRG1 RP2 RPGR TRAPPC2 SMS CDKL5 SUV39H1 SYN1 SYP TFE3 XG XK GTPBP6 PUDP AKAP17A PNPLA4 ZRSR2 USP11 USP9X RBM10 KDM5C SMC1A PIR INE2 INE1 CASK REPS2 ZBED1 RAB9A HDAC6 ADGRG2 ATP6AP2 RRAGB EBP RAI2 MSL3 FTSJ1 H2AP GPKOW APEX2 CCDC22 MAGEH1 FAM156A UBQLN2 SH3KBP1 TLR7 TLR8 GPR173 NUDT11 PLCXD1 GRIPAP1 SHROOM4 NLGN4X DUSP21 TSPYL2 PORCN APOO ASMTL-AS1 TASL TMEM47 CCNB3 SYAP1 SYTL5 BEND2 DGKK FAM9A FAM9B FAM9C BCLAF3 MAP7D2 SSX7 NLRP2B LINC01281 CFAP47 MAGEB18 P2RY8 ITIH6 LANCL3 MPC1L DCAF8L2 ARSH MAGEB5 CENPVL3 MIR221 MIR222 VCX3B SPIN2B SPANXN5 MIR362 ZNF674 XAGE1B XAGE1A SCARNA23 MIR532 GAGE12J GAGE2D GAGE12C GAGE12B GAGE12E GAGE12H GAGE2A SNORA11C SNORA11D LINC01546 PHKA2-AS1 LINC01203 LINC00102 MTRNR2L10 MIR3937 MIR3690 PIR-FIGF MIR4769 MIR4536-1 MIR548AM MIR4767 EIF1AX-AS1 PCYT1B-AS1 ZNF630-AS1 FRMPD4-AS1 SNORA11E NR0B1 ALAS2 BMX CSF2RA DDX3X EIF1AX EIF2S3 ELK1 VEGFD GAGE1 GK GRPR ERAS IL3RA KCND1 PRICKLE3 CD99 MID1 CDK16 PDHA1 PHEX PHKA2 PIGA POLA1 PPEF1 RPS6KA3 RS1 SHOX TBL1X TRO UBA1 SLC35A2 ZFX ZNF182 ZNF41 ZXDA OFD1 ASMTL RGN FRMPD4 JADE3 HUWE1 PQBP1 TIMM17B PIM2 WDR45 CNKSR2 PHF8 SMPX GSPT2 EGFL6 VCX PCSK1N PPP2R3B FOXP3 VCX2 VCX3A SPIN2A NDUFB11 BCOR KRBOX4 CTPS2 CHST7 ZNF630 CLTRN MID1IP1 ACE2 CRLF2 WDR13 WNK3 DIPK2B MAGIX EFHC2 KLHL15 PPP1R2C SLC9A7 PPP1R3F VCF2 PAGE5 ATXN3L SLC38A5 CBLL2 USP27X-DT FAAH2 ZXDB FAM47A MOSPD2 RIBC1 TCEANC ARX XAGE3 XAGE5 NUDT10 LINC01560 PAGE2 DHRSX CXorf58 KLHL34 TAB3 LINC00685 EZHIP MIR98 MAP3K15 SPACA5 USP27X CENPVL1 PAGE2B MIR188 CENPVL2 SSX4B NBDY SNORA11 MIR651 MIR660 LOC729609 LINC00106 SUPT20HL1 UXT-AS1 TRI-GAT1-2 TRI-GAT1-1 TRV-TAC1-2 TRI-GAT1-3 MIR548F5 MIR23C ARSD-AS1 MIR4770 PTCHD1-AS GK-AS1 NDP-AS1 NHS-AS1 SYP-AS1 ZFX-AS1 PHEX-AS1 PRKX-AS1 LINC01284 PORCN-DT LOC101928389 LINC01186 MIR222HG ACE2-DT LINC02601 LOC108251802 LOC108251803 LOC110120592 LOC110120593 LOC110120594 LOC110120595 LOC110120596 LOC110120597 LOC111242786 LOC116309138 LOC116309139 LOC116309142 LOC116309143 LOC116309144 LOC116309145 LOC116309146 LOC116309147 LOC116309148 LOC116309149 LOC116309150 LOC116309151 LOC116309152 LOC116309153 LOC116309154 LOC116309155 LOC116309156 LOC121627957 LOC121627958 LOC121627960 LOC121627961 LOC121627962 LOC121627963 LOC121627964 LOC121627965 LOC121627966 HCCS-DT LOC126863189 LOC126863190 LOC126863191 LOC126863192 LOC126863193 LOC126863194 LOC126863195 LOC127933115 LINC01282 LINC03099 PINCR LOC101928201 LOC101928627 MIR6857 MIR6086 MIR6894 LOC105373133 LINC01456 SAT1-DT LOC105373150 LOC105373156 LOC106799844 LOC107652445 LOC107985657 LOC107985687 LOC109610631 SNORA11G SNORA48B LINC02154 LOC111365226 LOC113875037 LOC113875040 CA5BP1-CA5B LOC114022706 LOC114022707 LOC117134593 LOC118966792 LOC119369038 LOC119369039 LOC119407397 LOC119407398 LOC119407399 LOC119407400 LOC119407401 LOC119407402 LOC119407403 LOC119407404 LOC119407405 LOC119407406 LOC119407407 LOC119407408 LOC119407411 LOC119407412 LOC119407413 LOC119407414 LOC119407415 LOC119407416 LOC119407417 LOC125446265 LOC125446266 LOC125446268 LOC125446269 LOC125446270 LOC125446271 LOC125446272 LOC125446273 LOC125446274 LOC125446275 LOC126863196 LOC126863197 LOC126863198 LOC126863199 LOC126863200 LOC126863201 LOC126863202 LOC126863203 LOC126863204 LOC126863205 LOC126863206 LOC126863207 LOC126863208 LOC126863209 LOC126863210 LOC126863211 LOC126863212 LOC126863213 LOC126863214 LOC126863215 LOC126863216 LOC126863217 LOC126863218 LOC126863219 LOC126863220 LOC126863221 LOC126863222 LOC126863223 LOC126863224 LOC126863225 LOC126863226 LOC126863227 LOC126863228 LOC126863229 LOC126863230 LOC126863231 LOC126863232 LOC126863233 LOC126863234 LOC126863235 LOC126863236 LOC126863237 LOC126863238 LOC126863239 LOC126863240 LOC126863241 LOC126863242 LOC126863243 LOC129391292 LOC129391293 LOC129391294 LOC129391295 LOC129391296 LOC129391297 LOC129391298 LOC129391299 LOC129391300 LOC129391301 LOC129391302 LOC129391303 LOC130067910 LOC130067911 LOC130067912 LOC130067913 LOC130067914 LOC130067915 MIR6089 MIR6134 MIR8088 LINC01496 KANTR GAGE10 LOC106029240 LOC106029241 SNORA109 LINC01283 CNE-5 CNE-3 CNE-2 CNE4 CNE5 CNE6 CNE7 CNE8 CNE9 LOC108410393 LOC108511947 LOC108663984 FLICR LOC111365193 LOC111365200 LOC111556151 LOC111828531 LOC113845783 LOC113845784 LOC113845789 LOC113875006 LOC113875013 LOC113875017 LOC113875018 LOC113875019 LOC113875020 LOC113875021 LOC113875022 LOC113875023 LOC113875024 LOC113875025 LOC113875026 LOC113875027 LOC113875028 LOC113875029 LOC113875030 LOC113875031 LOC113875032 LOC113875033 H2AL3 LOC119407418 LOC119407419 LOC119407420 LOC119407421 LOC119407422 LOC121627967 LOC121627968 LOC121627969 LOC121627970 LOC121627971 LOC121627972 LOC121627973 LOC121853049 LOC121853050 LOC121853051 LOC121853052 LOC121853053 LOC121853054 LOC121853055 LOC121853056 LOC121853057 LOC121853058 LOC125446276 LOC125446277 LOC125446278 LOC125446279 LOC125446280 LOC125446283 LOC125467738 LOC125467739 LOC125467740 LOC125467741 LOC125467745 LOC125467746 LOC125467747 LOC125467748 LOC125467749 LOC125467753 LOC125467754 LOC125467755 LOC125467756 LOC126863244 LOC126863245 LOC126863246 LOC126863247 LOC126863248 LOC126863249 LOC126863250 LOC126863251 LOC126863252 LOC126863253 LOC126863254 LOC126863255 LOC126863256 LOC126863257 LOC126863258 LOC126863259 LOC126863260 LOC126863261 LOC126863262 LOC126863263 LOC126863264 LOC126863265 LOC126863266 MAGEB17-AS1 LOC130067962 LOC130067963 LOC130067964 LOC130067965 LOC130067966 LOC130067967 LOC130067968 LOC130067969 LOC130067970 LOC130067971 LOC130067972 LOC130067973 LOC130067974 LOC130067975 LOC130067976 LOC130067977 LOC130067978 LOC130067979 LOC130067980 LOC130067981 LOC130067982 LOC130067983 LOC130067984 LOC130067985 LOC130067986 LOC130067987 LOC130067988 LOC130067989 LOC130067990 LOC130067991 LOC130067992 LOC130067993 LOC130067994 LOC130067995 LOC130067996 LOC130067997 LOC130067998 LOC130067999 LOC130068000 LOC130068001 LOC130068002 LOC130068003 LOC130068004 LOC130068005 LOC130068006 LOC130068007 LOC130068008 LOC130068009 LOC130068010 LOC130068011 LOC130068012 LOC130068013 LOC130068066 LOC130068067 LOC130068068 LOC130068069 LOC130068070 LOC130068071 LOC130068072 LOC130068073 LOC130068074 LOC130068075 LOC130068076 LOC130068077 LOC130068078 LOC130068079 LOC130068080 LOC130068081 LOC130068082 LOC130068083 LOC130068084 LOC130068085 LOC130068086 LOC130068087 LOC130068088 LOC130068089 LOC130068090 LOC130068091 LOC130068092 LOC130068093 LOC130068094 LOC130068095 LOC130068096 LOC130068097 LOC130068098 LOC130068099 LOC130068100 LOC130068101 LOC130068102 LOC130068103 LOC130068104 LOC130068105 LOC130068106 LOC130068107 LOC130068108 LOC130068109 LOC130068110 LOC130068111 LOC130068112 LOC130068113 LOC130068114 LOC130068115 LOC130068116 LOC130068117 LOC130068170 LOC130068171 LOC130068172 LOC130068173 LOC130068174 LOC130067890 LOC130067891 LOC130067892 LOC130067893 LOC130067894 LOC130067895 LOC130067896 LOC130067897 LOC130067898 LOC130067899 LOC130067900 LOC130067901 LOC130067902 LOC130067903 LOC130067904 LOC130067905 LOC130067906 LOC130067907 LOC130067908 LOC130067909 LOC130068014 LOC130068015 LOC130068016 LOC130068017 LOC130068018 LOC130068019 LOC130068020 LOC130068021 LOC130068022 LOC130068023 LOC130068024 LOC130068025 LOC130068026 LOC130068027 LOC130068028 LOC130068029 LOC130068030 LOC130068031 LOC130068032 LOC130068033 LOC130068034 LOC130068035 LOC130068036 LOC130068037 LOC130068038 LOC130068039 LOC130068040 LOC130068041 LOC130068042 LOC130068043 LOC130068044 LOC130068045 LOC130068046 LOC130068047 LOC130068048 LOC130068049 LOC130068050 LOC130068051 LOC130068052 LOC130068053 LOC130068054 LOC130068055 LOC130068056 LOC130068057 LOC130068058 LOC130068059 LOC130068060 LOC130068061 LOC130068062 LOC130068063 LOC130068064 LOC130068065 LOC130068118 LOC130068119 LOC130068120 LOC130068121 LOC130068122 LOC130068123 LOC130068124 LOC130068125 LOC130068126 LOC130068127 LOC130068128 LOC130068129 LOC130068130 LOC130068131 LOC130068132 LOC130068133 LOC130068134 LOC130068135 LOC130068136 LOC130068137 LOC130068138 LOC130068139 LOC130068140 LOC130068141 LOC130068142 LOC130068143 LOC130068144 LOC130068145 LOC130068146 LOC130068147 LOC130068148 LOC130068149 LOC130068150 LOC130068151 LOC130068152 LOC130068153 LOC130067916 LOC130067917 LOC130067918 LOC130067919 LOC130067920 LOC130067921 LOC130067922 LOC130067923 LOC130067924 LOC130067925 LOC130067926 LOC130067927 LOC130067928 LOC130067929 LOC130067930 LOC130067931 LOC130067932 LOC130067933 LOC130067934 LOC130067935 LOC130067936 LOC130067937 LOC130067938 LOC130067939 LOC130067940 LOC130067941 LOC130067942 LOC130067943 LOC130067944 LOC130067945 LOC130067946 LOC130067947 LOC130067948 LOC130067949 LOC130067950 LOC130067951 LOC130067952 LOC130067953 LOC130067954 LOC130067955 LOC130067956 LOC130067957 LOC130067958 LOC130067959 LOC130067960 LOC130067961 LOC130068154 LOC130068155 LOC130068156 LOC130068157 LOC130068158 LOC130068159 LOC130068160 LOC130068161 LOC130068162 LOC130068163 LOC130068164 LOC130068165 LOC130068166 LOC130068167 LOC130068168 LOC130068169 LOC130068222 LOC130068223 LOC130068224 LOC130068225 LOC130068226 LOC130068227 LOC130068228 LOC130068229 LOC130068230 LOC130068231 LOC130068232 LOC130068233 LOC130068234 LOC130068235 LOC130068236 LOC130068237 LOC130068238 LOC130068239 LOC130068240 LOC130068241 LOC130068242 LOC130068243 LOC130068244 LOC130068245 LOC130068246 LOC130068247 LOC130068248 LOC130068249 LOC130068250 LOC130068251 LOC130068252 LOC130068253 LOC130068254 LOC130068255 LOC130068256 LOC130068257 LOC130068258 LOC130068259 LOC130068260 LOC130068261 LOC130068262 LOC130068263 LOC130068264 LOC130068265 LOC130068266 LOC130068267 LOC130068268 LOC130068269 LOC130068270 LOC130068271 LOC130068272 LOC130068273 LOC130068326 LOC130068327 LOC130068328 LOC130068329 LOC130068330 LOC130068331 LOC130068332 LOC130068333 LOC130068334 LOC130068335 LOC130068336 LOC130068337 LOC130068338 LOC130068339 LOC130068340 LOC130068341 LOC130068342 LOC130068343 LOC130068344 LOC130068345 LOC130068346 LOC130068347 LOC130068348 LOC130068349 LOC130068350 LOC130068351 LOC130068352 LOC130068353 LOC130068354 LOC130068355 LOC130068356 LOC130068357 LOC130068358 LOC130068175 LOC130068176 LOC130068177 LOC130068178 LOC130068179 LOC130068180 LOC130068181 LOC130068182 LOC130068183 LOC130068184 LOC130068185 LOC130068186 LOC130068187 LOC130068188 LOC130068189 LOC130068190 LOC130068191 LOC130068192 LOC130068193 LOC130068194 LOC130068195 LOC130068196 LOC130068197 LOC130068198 LOC130068199 LOC130068200 LOC130068201 LOC130068202 LOC130068203 LOC130068204 LOC130068205 LOC130068206 LOC130068207 LOC130068208 LOC130068209 LOC130068210 LOC130068211 LOC130068212 LOC130068213 LOC130068214 LOC130068215 LOC130068216 LOC130068217 LOC130068218 LOC130068219 LOC130068220 LOC130068221 LOC130068274 LOC130068275 LOC130068276 LOC130068277 LOC130068278 LOC130068279 LOC130068280 LOC130068281 LOC130068282 LOC130068283 LOC130068284 LOC130068285 LOC130068286 LOC130068287 LOC130068288 LOC130068289 LOC130068290 LOC130068291 LOC130068292 LOC130068293 LOC130068294 LOC130068295 LOC130068296 LOC130068297 LOC130068298 LOC130068299 LOC130068300 LOC130068301 LOC130068302 LOC130068303 LOC130068304 LOC130068305 LOC130068306 LOC130068307 LOC130068308 LOC130068309 LOC130068310 LOC130068311 LOC130068312 LOC130068313 LOC130068314 LOC130068315 LOC130068316 LOC130068317 LOC130068318 LOC130068319 LOC130068320 LOC130068321 LOC130068322 LOC130068323 LOC130068324 LOC130068325
Associated Variants
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1
Source Database
ClinVar
Description
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 AND See cases
ClinVar Allele ID
160249
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2012-08-13
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000139343
Observed Origin Sample
not provided
Drugs