Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000319481 [[21742007, 21743245], [21745028, 21745119], [21746542, 21746666], [21747292, 21747409], [21750290, 21750417], [21751372, 21751462], [21752339, 21752447], [21757976, 21758159], [21759701, 21759799], [21761108, 21761243], [21776088, 21776164], [21805005, 21805162], [21819183, 21819346], [21860805, 21860912], [21883600, 21883682], [21891947, 21892070], [21894212, 21894311], [21897112, 21897176], [21897290, 21897364], [21898564, 21898609], [21898711, 21898773], [21912905, 21913050], [21914208, 21914294], [21921510, 21921622], [21946855, 21946930], [21948250, 21948336], [21957376, 21957499], [21977618, 21977823]] [[21743142, 21743245], [21745028, 21745119], [21746542, 21746666], [21747292, 21747409], [21750290, 21750417], [21751372, 21751462], [21752339, 21752447], [21757976, 21758159], [21759701, 21759799], [21761108, 21761243], [21776088, 21776164], [21805005, 21805162], [21819183, 21819346], [21860805, 21860912], [21883600, 21883682], [21891947, 21892070], [21894212, 21894311], [21897112, 21897176], [21897290, 21897364], [21898564, 21898609], [21898711, 21898773], [21912905, 21913050], [21914208, 21914294], [21921510, 21921622], [21946855, 21946930], [21948250, 21948336], [21957376, 21957497]]
ENST00000399443 [[21742008, 21743245], [21745028, 21745119], [21746542, 21746666], [21747292, 21747409], [21750290, 21750417], [21751372, 21751462], [21752339, 21752447], [21757976, 21758159], [21759701, 21759799], [21761108, 21761243], [21776088, 21776164], [21805005, 21805162], [21819183, 21819346], [21851585, 21852196]] [[21743142, 21743245], [21745028, 21745119], [21746542, 21746666], [21747292, 21747409], [21750290, 21750417], [21751372, 21751462], [21752339, 21752447], [21757976, 21758159], [21759701, 21759799], [21761108, 21761243], [21776088, 21776164], [21805005, 21805067]]
ENST00000357041 [[21743097, 21743245], [21745028, 21745119], [21746542, 21746666], [21747292, 21747409], [21750290, 21750417], [21751372, 21751462], [21752339, 21752447], [21757976, 21758159], [21759701, 21759799], [21761108, 21761243], [21776088, 21776164], [21805005, 21805162], [21819183, 21819346], [21860805, 21860912], [21883600, 21883682], [21891417, 21891480]] [[21743142, 21743245], [21745028, 21745119], [21746542, 21746666], [21747292, 21747409], [21750290, 21750417], [21751372, 21751462], [21752339, 21752447], [21757976, 21758159], [21759701, 21759799], [21761108, 21761243], [21776088, 21776164], [21805005, 21805162], [21819183, 21819346], [21860805, 21860912], [21883600, 21883628]]
ENST00000578013 [[21743120, 21743245], [21745028, 21745119], [21746542, 21746666], [21747292, 21747409], [21750290, 21750417], [21751372, 21751462], [21752339, 21752447], [21759701, 21759799]] [[21743142, 21743245], [21745028, 21745119], [21746542, 21746666], [21747292, 21747409], [21750290, 21750417], [21751372, 21751462], [21752339, 21752447], [21759701, 21759799]]
ENST00000578055 [[21751443, 21751462], [21752339, 21752447], [21776088, 21776164], [21805005, 21805162], [21819183, 21819346], [21851585, 21851649]] [[21752438, 21752447], [21776088, 21776164], [21805005, 21805067]]
ENST00000584119 [[21805030, 21805162], [21819183, 21819346], [21860805, 21860912], [21881256, 21881288], [21883600, 21883682], [21891417, 21891486]] [[21860846, 21860912], [21881256, 21881288], [21883600, 21883628]]
ENST00000581043 [[21860805, 21860912], [21882352, 21882715], [21883600, 21883682], [21891417, 21891496]] None
ENST00000579851 [[21860805, 21860912], [21883600, 21883682], [21891947, 21892070], [21894212, 21894311], [21897112, 21897176], [21897290, 21897364], [21898564, 21898609], [21898711, 21898773], [21912905, 21913050], [21914208, 21914294], [21921510, 21921622], [21957376, 21957499], [21977618, 21977787]] [[21921593, 21921622], [21957376, 21957497]]
ENST00000578091 [[21860805, 21860912], [21883600, 21883682], [21891947, 21892070], [21894212, 21894311], [21897112, 21897176], [21897290, 21897364], [21898564, 21898609], [21898711, 21898773], [21912905, 21913050], [21914208, 21914294], [21921510, 21921622], [21948330, 21948336], [21957376, 21957499], [21977618, 21977844]] [[21921593, 21921622], [21948330, 21948336], [21957376, 21957497]]
ENST00000585247 [[21775998, 21776164], [21805005, 21805162], [21819183, 21819346], [21851481, 21851575]] None
ENST00000582645 [[21898719, 21898773], [21912905, 21913050], [21914208, 21914294], [21946855, 21946930], [21948330, 21948336], [21957376, 21957499], [21977618, 21977819]] [[21946901, 21946930], [21948330, 21948336], [21957376, 21957497]]
ENST00000579764 [[21927621, 21927802], [21957376, 21957499], [21977618, 21977752]] None
ENST00000582350 [[21927628, 21927802], [21946855, 21946930], [21948250, 21948336], [21957376, 21957499], [21977618, 21977748]] None
ENST00000399441 [[21937088, 21938475], [21946855, 21946930], [21948250, 21948336], [21957376, 21957499], [21977536, 21977752]] [[21938454, 21938475], [21946855, 21946930], [21948250, 21948336], [21957376, 21957497]]
ENST00000582618 [[21946368, 21946930], [21948250, 21948336], [21948509, 21948553], [21957376, 21957499], [21977618, 21977805]] None
ENST00000581343 [[21947897, 21948336], [21957376, 21957502]] None
NM_018030 [[21742008, 21743245], [21745028, 21745119], [21746542, 21746666], [21747292, 21747409], [21750290, 21750417], [21751372, 21751462], [21752339, 21752447], [21757976, 21758159], [21759701, 21759799], [21761108, 21761243], [21776088, 21776164], [21805005, 21805162], [21819183, 21819346], [21851585, 21852196]] [[21743142, 21743245], [21745028, 21745119], [21746542, 21746666], [21747292, 21747409], [21750290, 21750417], [21751372, 21751462], [21752339, 21752447], [21757976, 21758159], [21759701, 21759799], [21761108, 21761243], [21776088, 21776164], [21805005, 21805067]]
NM_001242508 [[21742008, 21743245], [21745028, 21745119], [21746542, 21746666], [21747292, 21747409], [21750290, 21750417], [21751372, 21751462], [21752339, 21752447], [21757976, 21758159], [21759701, 21759799], [21761108, 21761243], [21776088, 21776164], [21805005, 21805162], [21819183, 21819346], [21860805, 21860912], [21883600, 21883682], [21891417, 21891470]] [[21743142, 21743245], [21745028, 21745119], [21746542, 21746666], [21747292, 21747409], [21750290, 21750417], [21751372, 21751462], [21752339, 21752447], [21757976, 21758159], [21759701, 21759799], [21761108, 21761243], [21776088, 21776164], [21805005, 21805162], [21819183, 21819346], [21860805, 21860912], [21883600, 21883628]]
NM_080597 [[21742008, 21743245], [21745028, 21745119], [21746542, 21746666], [21747292, 21747409], [21750290, 21750417], [21751372, 21751462], [21752339, 21752447], [21757976, 21758159], [21759701, 21759799], [21761108, 21761243], [21776088, 21776164], [21805005, 21805162], [21819183, 21819346], [21860805, 21860912], [21883600, 21883682], [21891947, 21892070], [21894212, 21894311], [21897112, 21897176], [21897290, 21897364], [21898564, 21898609], [21898711, 21898773], [21912905, 21913050], [21914208, 21914294], [21921510, 21921622], [21946855, 21946930], [21948250, 21948336], [21957376, 21957499], [21977618, 21977833]] [[21743142, 21743245], [21745028, 21745119], [21746542, 21746666], [21747292, 21747409], [21750290, 21750417], [21751372, 21751462], [21752339, 21752447], [21757976, 21758159], [21759701, 21759799], [21761108, 21761243], [21776088, 21776164], [21805005, 21805162], [21819183, 21819346], [21860805, 21860912], [21883600, 21883682], [21891947, 21892070], [21894212, 21894311], [21897112, 21897176], [21897290, 21897364], [21898564, 21898609], [21898711, 21898773], [21912905, 21913050], [21914208, 21914294], [21921510, 21921622], [21946855, 21946930], [21948250, 21948336], [21957376, 21957497]]
Promoter
Chrom Start End Description
chr18 21851643 21851662 CAGE_peak_5_at_OSBPL1A_5end
chr18 21851868 21851939 CAGE_peak_4_at_OSBPL1A_5end
chr18 21851943 21851954 CAGE_peak_9_at_OSBPL1A_5end
chr18 21851955 21851971 CAGE_peak_7_at_OSBPL1A_5end
chr18 21851975 21851992 CAGE_peak_6_at_OSBPL1A_5end
chr18 21851993 21852004 CAGE_peak_11_at_OSBPL1A_5end
chr18 21852055 21852062 CAGE_peak_13_at_OSBPL1A_5end
chr18 21852066 21852077 CAGE_peak_10_at_OSBPL1A_5end
chr18 21852078 21852137 CAGE_peak_3_at_OSBPL1A_5end
chr18 21852143 21852205 CAGE_peak_2_at_OSBPL1A_5end
chr18 21891460 21891506 CAGE_peak_14_at_OSBPL1A_5end
chr18 21977748 21977821 CAGE_peak_1_at_OSBPL1A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I024181 24181577 24182366 0.51 [{'connected_gene': 'TMEM241', 'score': 4.03}, {'connected_gene': 'ENSG00000273524', 'score': 0.77}, {'connected_gene': 'GC18P024207', 'score': 0.31}, {'connected_gene': 'OSBPL1A', 'score': 0.08}]
chr18 GH18I024359 24359765 24360200 0.66 [{'connected_gene': 'IMPACT', 'score': 12.61}, {'connected_gene': 'ENSG00000199636', 'score': 12.61}, {'connected_gene': 'MIR320C2', 'score': 11.51}, {'connected_gene': 'ENSG00000264365', 'score': 0.77}, {'connected_gene': 'OSBPL1A', 'score': 0.28}]
chr18 GH18I024201 24201640 24203046 0.38 [{'connected_gene': 'CABYR', 'score': 10.4}, {'connected_gene': 'RIOK3', 'score': 5.2}, {'connected_gene': 'GC18P024207', 'score': 0.77}, {'connected_gene': 'ENSG00000273524', 'score': 0.34}, {'connected_gene': 'OSBPL1A', 'score': 0.08}]
chr18 GH18I024199 24199058 24200107 0.2 [{'connected_gene': 'CABYR', 'score': 10.59}, {'connected_gene': 'ANKRD29', 'score': 9.78}, {'connected_gene': 'GC18P024207', 'score': 0.44}, {'connected_gene': 'ENSG00000273524', 'score': 0.34}, {'connected_gene': 'OSBPL1A', 'score': 0.08}]
chr18 GH18I024200 24200875 24201267 0.5 [{'connected_gene': 'CABYR', 'score': 10.09}, {'connected_gene': 'OSBPL1A', 'score': 2.49}, {'connected_gene': 'GC18P024207', 'score': 0.44}, {'connected_gene': 'ENSG00000273524', 'score': 0.34}]
chr18 GH18I024188 24188616 24189515 0.74 [{'connected_gene': 'CABYR', 'score': 10.0}, {'connected_gene': 'ENSG00000265750', 'score': 4.66}, {'connected_gene': 'ENSG00000273524', 'score': 0.44}, {'connected_gene': 'GC18P024207', 'score': 0.37}, {'connected_gene': 'OSBPL1A', 'score': 0.08}]
chr18 GH18I024203 24203167 24205682 0.31 [{'connected_gene': 'CABYR', 'score': 10.4}, {'connected_gene': 'GC18P024207', 'score': 0.77}, {'connected_gene': 'ENSG00000273524', 'score': 0.31}, {'connected_gene': 'OSBPL1A', 'score': 0.08}]
chr18 GH18I024191 24191694 24193367 0.2 [{'connected_gene': 'CABYR', 'score': 20.51}, {'connected_gene': 'RNU6-435P', 'score': 11.81}, {'connected_gene': 'ANKRD29', 'score': 9.27}, {'connected_gene': 'ENSG00000265750', 'score': 4.41}, {'connected_gene': 'ENSG00000273524', 'score': 0.39}, {'connected_gene': 'GC18P024207', 'score': 0.39}, {'connected_gene': 'OSBPL1A', 'score': 0.08}]
chr18 GH18I024190 24190597 24191332 0.58 [{'connected_gene': 'CABYR', 'score': 18.88}, {'connected_gene': 'RNU6-435P', 'score': 11.49}, {'connected_gene': 'ENSG00000273524', 'score': 0.39}, {'connected_gene': 'GC18P024207', 'score': 0.37}, {'connected_gene': 'OSBPL1A', 'score': 0.08}]
chr18 GH18I024198 24198003 24198927 0.59 [{'connected_gene': 'ANKRD29', 'score': 9.78}, {'connected_gene': 'RIOK3', 'score': 4.55}, {'connected_gene': 'GC18P024207', 'score': 0.44}, {'connected_gene': 'ENSG00000273524', 'score': 0.37}, {'connected_gene': 'OSBPL1A', 'score': 0.08}]
chr18 GH18I024396 24396345 24399201 1.94 [{'connected_gene': 'OSBPL1A', 'score': 550.77}, {'connected_gene': 'RMC1', 'score': 13.48}, {'connected_gene': 'IMPACT', 'score': 8.84}, {'connected_gene': 'ENSG00000264365', 'score': 0.29}]
chr18 GH18I024063 24063326 24065794 0.88 [{'connected_gene': 'OSBPL1A', 'score': 5.17}, {'connected_gene': 'ANKRD29', 'score': 5.05}, {'connected_gene': 'ENSG00000265204', 'score': 0.29}, {'connected_gene': 'PIR46321', 'score': 0.26}, {'connected_gene': 'TTC39C', 'score': 0.19}]
chr18 GH18I024369 24369401 24369601 0.2 [{'connected_gene': 'OSBPL1A', 'score': 12.38}, {'connected_gene': 'MIR320C2', 'score': 11.21}, {'connected_gene': 'ENSG00000264365', 'score': 0.77}]
chr18 GH18I024311 24311506 24311565 0.5 [{'connected_gene': 'OSBPL1A', 'score': 550.17}, {'connected_gene': 'MIR320C2', 'score': 0.39}, {'connected_gene': 'GC18M024272', 'score': 0.28}]
chr18 GH18I024228 24228074 24229200 1.12 [{'connected_gene': 'OSBPL1A', 'score': 1.61}, {'connected_gene': 'GC18P024219', 'score': 0.39}, {'connected_gene': 'GC18M024272', 'score': 0.26}]
chr18 GH18I024270 24270341 24272826 1.88 [{'connected_gene': 'OSBPL1A', 'score': 557.21}, {'connected_gene': 'GC18M024272', 'score': 550.77}, {'connected_gene': 'GC18P024219', 'score': 0.23}]
chr18 GH18I024389 24389008 24389888 0.38 [{'connected_gene': 'OSBPL1A', 'score': 0.44}, {'connected_gene': 'ENSG00000264365', 'score': 0.34}]
chr18 GH18I024397 24395529 24395594 0.38 [{'connected_gene': 'OSBPL1A', 'score': 0.77}, {'connected_gene': 'ENSG00000264365', 'score': 0.29}]
chr18 GH18I024379 24379937 24380744 0.2 [{'connected_gene': 'OSBPL1A', 'score': 0.37}, {'connected_gene': 'ENSG00000264365', 'score': 0.37}]
chr18 GH18I024395 24395113 24395309 0.65 [{'connected_gene': 'OSBPL1A', 'score': 5.23}, {'connected_gene': 'ENSG00000264365', 'score': 0.29}]
chr18 GH18I024193 24193422 24194361 0.31 [{'connected_gene': 'RNU6-435P', 'score': 11.83}, {'connected_gene': 'CABYR', 'score': 11.23}, {'connected_gene': 'ENSG00000273524', 'score': 0.39}, {'connected_gene': 'GC18P024207', 'score': 0.39}, {'connected_gene': 'OSBPL1A', 'score': 0.08}]
chr18 GH18I024194 24194882 24197419 0.68 [{'connected_gene': 'RNU6-435P', 'score': 11.83}, {'connected_gene': 'CABYR', 'score': 11.22}, {'connected_gene': 'GC18P024207', 'score': 0.39}, {'connected_gene': 'ENSG00000273524', 'score': 0.37}, {'connected_gene': 'OSBPL1A', 'score': 0.08}]
chr18 GH18I024244 24244866 24245112 0.23 [{'connected_gene': 'RNU6-435P', 'score': 11.82}, {'connected_gene': 'GC18M024272', 'score': 0.31}, {'connected_gene': 'GC18P024219', 'score': 0.31}, {'connected_gene': 'OSBPL1A', 'score': 0.1}]
chr18 GH18I024215 24215283 24216502 0.99 [{'connected_gene': 'RNU6-435P', 'score': 0.77}, {'connected_gene': 'GC18P024207', 'score': 0.44}, {'connected_gene': 'OSBPL1A', 'score': 0.09}]
chr18 GH18I024243 24243266 24244363 0.31 [{'connected_gene': 'RNU6-435P', 'score': 12.31}, {'connected_gene': 'GC18M024272', 'score': 0.31}, {'connected_gene': 'GC18P024219', 'score': 0.31}, {'connected_gene': 'OSBPL1A', 'score': 0.1}]
chr18 GH18I024168 24168499 24169304 0.2 [{'connected_gene': 'RNA5SP452', 'score': 550.77}, {'connected_gene': 'GC18M024171', 'score': 550.77}, {'connected_gene': 'ENSG00000265750', 'score': 5.77}, {'connected_gene': 'CABYR', 'score': 5.07}, {'connected_gene': 'ENSG00000264924', 'score': 5.01}, {'connected_gene': 'OSBPL1A', 'score': 0.07}]
chr18 GH18I024302 24302413 24303194 0.2 [{'connected_gene': 'MIR320C2', 'score': 0.37}, {'connected_gene': 'GC18M024272', 'score': 0.31}, {'connected_gene': 'OSBPL1A', 'score': 0.15}]
chr18 GH18I024378 24378692 24379386 0.38 [{'connected_gene': 'MIR320C2', 'score': 10.31}, {'connected_gene': 'ENSG00000264365', 'score': 0.39}, {'connected_gene': 'OSBPL1A', 'score': 0.37}]
chr18 GH18I024206 24206008 24210504 0.52 [{'connected_gene': 'GC18P024207', 'score': 550.77}, {'connected_gene': 'RIOK3', 'score': 4.27}, {'connected_gene': 'RNU6-435P', 'score': 0.39}, {'connected_gene': 'OSBPL1A', 'score': 0.09}]
chr18 GH18I024179 24179210 24180545 0.2 [{'connected_gene': 'ENSG00000273524', 'score': 550.77}, {'connected_gene': 'CABYR', 'score': 9.67}, {'connected_gene': 'GC18P024207', 'score': 0.31}, {'connected_gene': 'OSBPL1A', 'score': 0.08}]
chr18 GH18I024362 24362397 24363411 0.43 [{'connected_gene': 'ENSG00000264365', 'score': 550.77}, {'connected_gene': 'OSBPL1A', 'score': 13.1}, {'connected_gene': 'IMPACT', 'score': 12.61}, {'connected_gene': 'ENSG00000199636', 'score': 12.61}, {'connected_gene': 'MIR320C2', 'score': 11.49}]
chr18 GH18I024232 24232945 24232973 0.4 [{'connected_gene': 'GC18P024219', 'score': 0.39}, {'connected_gene': 'GC18M024272', 'score': 0.26}, {'connected_gene': 'OSBPL1A', 'score': 0.1}]
chr18 GH18I024187 24187201 24187600 0.63 [{'connected_gene': 'ENSG00000273524', 'score': 0.44}, {'connected_gene': 'GC18P024207', 'score': 0.37}, {'connected_gene': 'OSBPL1A', 'score': 0.08}]
chr18 GH18I024233 24233837 24234687 0.46 [{'connected_gene': 'GC18P024219', 'score': 0.37}, {'connected_gene': 'GC18M024272', 'score': 0.28}, {'connected_gene': 'OSBPL1A', 'score': 0.1}]
chr18 GH18I024269 24269691 24270036 0.31 [{'connected_gene': 'GC18M024272', 'score': 0.77}, {'connected_gene': 'GC18P024219', 'score': 0.23}, {'connected_gene': 'OSBPL1A', 'score': 0.13}]
chr18 GH18I024231 24231297 24232890 0.8 [{'connected_gene': 'GC18P024219', 'score': 0.39}, {'connected_gene': 'GC18M024272', 'score': 0.26}, {'connected_gene': 'OSBPL1A', 'score': 0.1}]
chr18 GH18I024219 24219075 24221951 0.49 [{'connected_gene': 'GC18P024219', 'score': 0.77}, {'connected_gene': 'GC18P024207', 'score': 0.39}, {'connected_gene': 'GC18M024272', 'score': 0.23}, {'connected_gene': 'OSBPL1A', 'score': 0.1}]
chr18 GH18I024211 24211797 24211946 0.65 [{'connected_gene': 'GC18P024207', 'score': 0.77}, {'connected_gene': 'RNU6-435P', 'score': 0.44}, {'connected_gene': 'OSBPL1A', 'score': 0.09}]
chr18 GH18I024212 24212071 24213932 0.82 [{'connected_gene': 'GC18P024207', 'score': 0.44}, {'connected_gene': 'RNU6-435P', 'score': 0.44}, {'connected_gene': 'OSBPL1A', 'score': 0.09}]
chr18 GH18I024175 24175549 24176480 0.31 [{'connected_gene': 'ENSG00000273524', 'score': 0.77}, {'connected_gene': 'RNA5SP452', 'score': 0.44}, {'connected_gene': 'GC18M024171', 'score': 0.44}, {'connected_gene': 'OSBPL1A', 'score': 0.07}]
chr18 GH18I024176 24176514 24177612 0.87 [{'connected_gene': 'ENSG00000273524', 'score': 0.77}, {'connected_gene': 'RNA5SP452', 'score': 0.44}, {'connected_gene': 'GC18M024171', 'score': 0.44}, {'connected_gene': 'OSBPL1A', 'score': 0.07}]
chr18 GH18I024273 24273801 24274200 0.2 [{'connected_gene': 'GC18M024272', 'score': 550.77}, {'connected_gene': 'MIR320C2', 'score': 0.25}, {'connected_gene': 'OSBPL1A', 'score': 0.13}]
chr18 GH18I024275 24275001 24275600 0.31 [{'connected_gene': 'GC18M024272', 'score': 0.77}, {'connected_gene': 'MIR320C2', 'score': 0.25}, {'connected_gene': 'OSBPL1A', 'score': 0.13}]

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