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
ENST00000416796 [[40590545, 40590575], [40619356, 40619442], [40626075, 40626185], [40629427, 40629516], [40631770, 40631905], [40637351, 40637483], [40643627, 40643747], [40646766, 40646818], [40653281, 40653406], [40657590, 40657703], [40668384, 40668529], [40668655, 40668795], [40671689, 40671818], [40671892, 40672063], [40677676, 40677754]] [[40619418, 40619442], [40626075, 40626185], [40629427, 40629516], [40631770, 40631905], [40637351, 40637483], [40643627, 40643747], [40646766, 40646818], [40653281, 40653406], [40657590, 40657703], [40668384, 40668529], [40668655, 40668795], [40671689, 40671818], [40671892, 40672063], [40677676, 40677754]]
ENST00000343742 [[40618812, 40619084], [40619356, 40619442], [40626075, 40626185], [40629427, 40629516], [40631770, 40631905], [40634284, 40634419], [40637351, 40637483], [40643627, 40643747], [40645033, 40645176], [40645266, 40645346], [40646711, 40646818], [40651049, 40651179], [40653281, 40653406], [40657590, 40657703], [40668384, 40668529], [40668655, 40668795], [40671689, 40671818], [40671892, 40672063], [40677676, 40677935], [40681152, 40681341], [40687346, 40687465], [40688646, 40688716], [40689228, 40689446], [40692044, 40692295], [40692910, 40693059], [40696590, 40696684], [40697749, 40698778]] [[40618933, 40619084], [40619356, 40619442], [40626075, 40626185], [40629427, 40629516], [40631770, 40631905], [40634284, 40634419], [40637351, 40637483], [40643627, 40643747], [40645033, 40645176], [40645266, 40645346], [40646711, 40646818], [40651049, 40651179], [40653281, 40653406], [40657590, 40657703], [40668384, 40668529], [40668655, 40668795], [40671689, 40671818], [40671892, 40672063], [40677676, 40677935], [40681152, 40681341], [40687346, 40687465], [40688646, 40688716], [40689228, 40689446], [40692044, 40692295], [40692910, 40693059], [40696590, 40696684], [40697749, 40697975]]
ENST00000298910 [[40618875, 40619084], [40619356, 40619442], [40626075, 40626185], [40629427, 40629516], [40631770, 40631905], [40634284, 40634419], [40637351, 40637483], [40643627, 40643747], [40645033, 40645176], [40645266, 40645346], [40646711, 40646818], [40651049, 40651179], [40653281, 40653406], [40657590, 40657703], [40668384, 40668529], [40668655, 40668795], [40671689, 40671818], [40671892, 40672063], [40677676, 40677935], [40681152, 40681341], [40687346, 40687465], [40688646, 40688716], [40689228, 40689446], [40692044, 40692295], [40692910, 40693059], [40696590, 40696684], [40697749, 40697936], [40699586, 40699768], [40702268, 40702498], [40702907, 40703035], [40704232, 40704451], [40707773, 40707975], [40709013, 40709102], [40713789, 40713977], [40714835, 40714990], [40715836, 40715983], [40716120, 40716312], [40716961, 40717108], [40722161, 40722262], [40728768, 40728959], [40734095, 40734256], [40740554, 40740725], [40742210, 40742311], [40745340, 40745535], [40748100, 40748294], [40749916, 40749989], [40753061, 40753246], [40757203, 40757356], [40758643, 40758852], [40760807, 40760879], [40761445, 40763083]] [[40618933, 40619084], [40619356, 40619442], [40626075, 40626185], [40629427, 40629516], [40631770, 40631905], [40634284, 40634419], [40637351, 40637483], [40643627, 40643747], [40645033, 40645176], [40645266, 40645346], [40646711, 40646818], [40651049, 40651179], [40653281, 40653406], [40657590, 40657703], [40668384, 40668529], [40668655, 40668795], [40671689, 40671818], [40671892, 40672063], [40677676, 40677935], [40681152, 40681341], [40687346, 40687465], [40688646, 40688716], [40689228, 40689446], [40692044, 40692295], [40692910, 40693059], [40696590, 40696684], [40697749, 40697936], [40699586, 40699768], [40702268, 40702498], [40702907, 40703035], [40704232, 40704451], [40707773, 40707975], [40709013, 40709102], [40713789, 40713977], [40714835, 40714990], [40715836, 40715983], [40716120, 40716312], [40716961, 40717108], [40722161, 40722262], [40728768, 40728959], [40734095, 40734256], [40740554, 40740725], [40742210, 40742311], [40745340, 40745535], [40748100, 40748294], [40749916, 40749989], [40753061, 40753246], [40757203, 40757356], [40758643, 40758852], [40760807, 40760879], [40761445, 40761567]]
ENST00000474202 [[40619396, 40619442], [40626075, 40626585]] None
ENST00000430804 [[40689306, 40689446], [40692044, 40692295], [40692910, 40693059], [40694614, 40694866], [40696590, 40696684], [40697749, 40697936], [40699586, 40699768], [40702268, 40702498], [40702907, 40703035], [40704232, 40704451], [40707773, 40707975], [40709013, 40709102], [40713789, 40713977], [40714835, 40714990], [40715836, 40715983], [40716120, 40716312], [40716961, 40717108], [40722161, 40722262], [40728768, 40728959], [40734095, 40734256], [40740554, 40740725], [40742210, 40742311], [40745340, 40745535], [40748100, 40748294], [40749916, 40749989], [40753061, 40753246], [40757203, 40757356], [40758643, 40758852], [40760807, 40760879], [40761445, 40763087]] [[40689306, 40689446], [40692044, 40692295], [40692910, 40693059], [40694614, 40694697]]
ENST00000479187 [[40692267, 40692295], [40692910, 40693059], [40696590, 40696684], [40697749, 40697936], [40699586, 40699768], [40702268, 40702498], [40702907, 40703035], [40704232, 40704451], [40707773, 40707975], [40709013, 40709102], [40713789, 40713977], [40714835, 40714990], [40715836, 40715983], [40716120, 40716312], [40716961, 40717108], [40722161, 40722262], [40728768, 40728959], [40734095, 40734256], [40740554, 40740725], [40742210, 40742311], [40745340, 40745535], [40748100, 40748294], [40749916, 40749989], [40753061, 40753246], [40757203, 40757356], [40758643, 40763087]] None
ENST00000481256 [[40706515, 40706710], [40707773, 40707975], [40709013, 40709102], [40713789, 40713864]] None
NM_198578 [[40618812, 40619084], [40619356, 40619442], [40626075, 40626185], [40629427, 40629516], [40631770, 40631905], [40634284, 40634419], [40637351, 40637483], [40643627, 40643747], [40645033, 40645176], [40645266, 40645346], [40646711, 40646818], [40651049, 40651179], [40653281, 40653406], [40657590, 40657703], [40668384, 40668529], [40668655, 40668795], [40671689, 40671818], [40671892, 40672063], [40677676, 40677935], [40681152, 40681341], [40687346, 40687465], [40688646, 40688716], [40689228, 40689446], [40692044, 40692295], [40692910, 40693059], [40696590, 40696684], [40697749, 40697936], [40699586, 40699768], [40702268, 40702498], [40702907, 40703035], [40704232, 40704451], [40707773, 40707975], [40709013, 40709102], [40713789, 40713977], [40714835, 40714990], [40715836, 40715983], [40716120, 40716312], [40716961, 40717108], [40722161, 40722262], [40728768, 40728959], [40734095, 40734256], [40740554, 40740725], [40742210, 40742311], [40745340, 40745535], [40748100, 40748294], [40749916, 40749989], [40753061, 40753246], [40757203, 40757356], [40758643, 40758852], [40760807, 40760879], [40761445, 40763087]] [[40618933, 40619084], [40619356, 40619442], [40626075, 40626185], [40629427, 40629516], [40631770, 40631905], [40634284, 40634419], [40637351, 40637483], [40643627, 40643747], [40645033, 40645176], [40645266, 40645346], [40646711, 40646818], [40651049, 40651179], [40653281, 40653406], [40657590, 40657703], [40668384, 40668529], [40668655, 40668795], [40671689, 40671818], [40671892, 40672063], [40677676, 40677935], [40681152, 40681341], [40687346, 40687465], [40688646, 40688716], [40689228, 40689446], [40692044, 40692295], [40692910, 40693059], [40696590, 40696684], [40697749, 40697936], [40699586, 40699768], [40702268, 40702498], [40702907, 40703035], [40704232, 40704451], [40707773, 40707975], [40709013, 40709102], [40713789, 40713977], [40714835, 40714990], [40715836, 40715983], [40716120, 40716312], [40716961, 40717108], [40722161, 40722262], [40728768, 40728959], [40734095, 40734256], [40740554, 40740725], [40742210, 40742311], [40745340, 40745535], [40748100, 40748294], [40749916, 40749989], [40753061, 40753246], [40757203, 40757356], [40758643, 40758852], [40760807, 40760879], [40761445, 40761567]]
Promoter
Chrom Start End Description
chr12 40618331 40618360 CAGE_peak_5_at_LRRK2_5end
chr12 40618463 40618492 CAGE_peak_4_at_LRRK2_5end
chr12 40618579 40618591 CAGE_peak_7_at_LRRK2_5end
chr12 40618764 40618841 CAGE_peak_1_at_LRRK2_5end
chr12 40618844 40618870 CAGE_peak_2_at_LRRK2_5end
chr12 40618873 40618889 CAGE_peak_3_at_LRRK2_5end
chr12 40618891 40618902 CAGE_peak_6_at_LRRK2_5end
chr12 40618919 40618928 CAGE_peak_9_at_LRRK2_5end
chr12 40619391 40619402 CAGE_peak_8_at_LRRK2_5end
chr12 40713926 40713942 CAGE_peak_14_at_LRRK2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I040192 40192299 40193660 1.1 [{'connected_gene': 'LRRK2', 'score': 10.51}, {'connected_gene': 'KIF21A', 'score': 4.08}, {'connected_gene': 'ENSG00000225342', 'score': 0.29}, {'connected_gene': 'GC12M040154', 'score': 0.29}, {'connected_gene': 'LINC02471', 'score': 0.28}]
chr12 GH12I040236 40236055 40240261 0.7 [{'connected_gene': 'LRRK2', 'score': 18.83}, {'connected_gene': 'SLC2A13', 'score': 10.71}, {'connected_gene': 'LINC02471', 'score': 9.21}, {'connected_gene': 'ENSG00000225342', 'score': 0.39}, {'connected_gene': 'ENSG00000229899', 'score': 0.25}]
chr12 GH12I040203 40203187 40203446 0.56 [{'connected_gene': 'LRRK2', 'score': 6.85}, {'connected_gene': 'LOC105369735', 'score': 0.77}, {'connected_gene': 'ENSG00000225342', 'score': 0.34}, {'connected_gene': 'LINC02471', 'score': 0.25}]
chr12 GH12I040216 40216601 40217400 0.88 [{'connected_gene': 'LRRK2', 'score': 59.47}, {'connected_gene': 'LINC02471', 'score': 16.75}, {'connected_gene': 'LOC105369735', 'score': 0.44}, {'connected_gene': 'ENSG00000225342', 'score': 0.44}]
chr12 GH12I040260 40260149 40265121 0.67 [{'connected_gene': 'LRRK2', 'score': 9.71}, {'connected_gene': 'LINC02471', 'score': 4.39}, {'connected_gene': 'ENSG00000229899', 'score': 0.34}, {'connected_gene': 'ENSG00000225342', 'score': 0.28}]
chr12 GH12I040223 40223465 40227694 2.45 [{'connected_gene': 'LRRK2', 'score': 596.27}, {'connected_gene': 'ENSG00000225342', 'score': 550.77}, {'connected_gene': 'LINC02471', 'score': 10.92}, {'connected_gene': 'ENSG00000229899', 'score': 0.21}]
chr12 GH12I040169 40168801 40169000 0.73 [{'connected_gene': 'LRRK2', 'score': 11.52}, {'connected_gene': 'GC12M040154', 'score': 0.44}, {'connected_gene': 'LINC02471', 'score': 0.39}]
chr12 GH12I040202 40202001 40202600 1.06 [{'connected_gene': 'LRRK2', 'score': 10.37}, {'connected_gene': 'LINC02555', 'score': 8.3}, {'connected_gene': 'LOC105369735', 'score': 0.44}, {'connected_gene': 'ENSG00000225342', 'score': 0.34}, {'connected_gene': 'LINC02471', 'score': 0.25}]
chr12 GH12I040195 40195201 40195600 0.4 [{'connected_gene': 'LRRK2', 'score': 559.86}, {'connected_gene': 'LINC02555', 'score': 19.1}, {'connected_gene': 'ENSG00000225342', 'score': 0.31}, {'connected_gene': 'GC12M040154', 'score': 0.29}, {'connected_gene': 'LINC02471', 'score': 0.28}]
chr12 GH12I040229 40229601 40230000 0.58 [{'connected_gene': 'LRRK2', 'score': 23.14}, {'connected_gene': 'LINC02555', 'score': 12.55}, {'connected_gene': 'ENSG00000225342', 'score': 0.77}, {'connected_gene': 'ENSG00000229899', 'score': 0.22}]
chr12 GH12I039988 39988816 39989192 0.37 [{'connected_gene': 'LRRK2', 'score': 1.21}, {'connected_gene': 'GC12P039941', 'score': 0.25}, {'connected_gene': 'RPL30P13', 'score': 0.18}, {'connected_gene': 'SLC2A13', 'score': 0.13}]
chr12 GH12I040001 40001912 40002001 0.2 [{'connected_gene': 'LRRK2', 'score': 6.2}, {'connected_gene': 'GC12P039941', 'score': 0.21}, {'connected_gene': 'RPL30P13', 'score': 0.2}, {'connected_gene': 'SLC2A13', 'score': 0.15}]
chr12 GH12I040232 40232919 40234517 0.49 [{'connected_gene': 'LRRK2', 'score': 17.46}, {'connected_gene': 'ENSG00000225342', 'score': 0.44}, {'connected_gene': 'ENSG00000229899', 'score': 0.23}]
chr12 GH12I040240 40240589 40241729 0.2 [{'connected_gene': 'LRRK2', 'score': 17.61}, {'connected_gene': 'ENSG00000225342', 'score': 0.37}, {'connected_gene': 'ENSG00000229899', 'score': 0.25}]
chr12 GH12I040230 40230401 40230600 0.51 [{'connected_gene': 'LRRK2', 'score': 23.17}, {'connected_gene': 'ENSG00000225342', 'score': 0.44}, {'connected_gene': 'ENSG00000229899', 'score': 0.22}]
chr12 GH12I040247 40247627 40249724 0.46 [{'connected_gene': 'LRRK2', 'score': 18.98}, {'connected_gene': 'ENSG00000225342', 'score': 0.34}, {'connected_gene': 'ENSG00000229899', 'score': 0.28}]
chr12 GH12I040231 40231946 40232550 0.51 [{'connected_gene': 'LRRK2', 'score': 11.91}, {'connected_gene': 'ENSG00000225342', 'score': 0.44}, {'connected_gene': 'ENSG00000229899', 'score': 0.23}]
chr12 GH12I040242 40242529 40243997 0.31 [{'connected_gene': 'LRRK2', 'score': 11.6}, {'connected_gene': 'ENSG00000225342', 'score': 0.37}, {'connected_gene': 'ENSG00000229899', 'score': 0.26}]
chr12 GH12I040153 40153511 40153735 0.39 [{'connected_gene': 'SLC2A13', 'score': 10.65}, {'connected_gene': 'LRRK2', 'score': 8.17}, {'connected_gene': 'LINC02471', 'score': 0.77}, {'connected_gene': 'LINC02555', 'score': 0.77}, {'connected_gene': 'GC12M040120', 'score': 0.31}]
chr12 GH12I040021 40020519 40020728 0.31 [{'connected_gene': 'SLC2A13', 'score': 10.33}, {'connected_gene': 'LRRK2', 'score': 4.54}, {'connected_gene': 'RPL30P13', 'score': 0.25}, {'connected_gene': 'GC12P039941', 'score': 0.18}]
chr12 GH12I040103 40103558 40107808 1.97 [{'connected_gene': 'SLC2A13', 'score': 550.77}, {'connected_gene': 'LINC02555', 'score': 22.71}, {'connected_gene': 'LINC02471', 'score': 21.12}, {'connected_gene': 'LRRK2', 'score': 9.38}, {'connected_gene': 'RPL30P13', 'score': 0.28}]
chr12 GH12I040207 40207447 40210200 1.24 [{'connected_gene': 'LOC105369735', 'score': 550.77}, {'connected_gene': 'LRRK2', 'score': 28.39}, {'connected_gene': 'LINC02471', 'score': 14.6}, {'connected_gene': 'ENSG00000225342', 'score': 0.37}]
chr12 GH12I040171 40171471 40171869 0.2 [{'connected_gene': 'LINC02471', 'score': 21.63}, {'connected_gene': 'LRRK2', 'score': 12.08}, {'connected_gene': 'GC12M040154', 'score': 0.44}]
chr12 GH12I040168 40168401 40168600 0.52 [{'connected_gene': 'LINC02471', 'score': 20.5}, {'connected_gene': 'LRRK2', 'score': 11.52}, {'connected_gene': 'GC12M040154', 'score': 0.44}]
chr12 GH12I040012 40012517 40014015 0.49 [{'connected_gene': 'LINC02471', 'score': 14.87}, {'connected_gene': 'LINC02555', 'score': 14.52}, {'connected_gene': 'SLC2A13', 'score': 11.81}, {'connected_gene': 'LRRK2', 'score': 6.24}, {'connected_gene': 'RPL30P13', 'score': 0.22}, {'connected_gene': 'GC12P039941', 'score': 0.19}]
chr12 GH12I040031 40031732 40033996 0.65 [{'connected_gene': 'LINC02555', 'score': 14.24}, {'connected_gene': 'SLC2A13', 'score': 10.73}, {'connected_gene': 'LRRK2', 'score': 4.49}, {'connected_gene': 'RPL30P13', 'score': 0.28}, {'connected_gene': 'GC12P039941', 'score': 0.16}]
chr12 GH12I040014 40014287 40018397 0.8 [{'connected_gene': 'LINC02555', 'score': 14.51}, {'connected_gene': 'SLC2A13', 'score': 11.82}, {'connected_gene': 'LRRK2', 'score': 5.67}, {'connected_gene': 'RPL30P13', 'score': 0.23}, {'connected_gene': 'GC12P039941', 'score': 0.19}]
chr12 GH12I040158 40158119 40159568 0.79 [{'connected_gene': 'LINC02555', 'score': 550.77}, {'connected_gene': 'LINC02471', 'score': 23.45}, {'connected_gene': 'LRRK2', 'score': 11.73}, {'connected_gene': 'GC12M040154', 'score': 0.77}]

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