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
ENST00000458470 [[39297765, 39304324], [39311484, 39311591], [39313475, 39313565], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39353397, 39353448], [39387723, 39387779], [39398828, 39398937], [39507778, 39507997], [39512330, 39512469], [39513358, 39513464], [39545831, 39545935], [39552673, 39552760], [39554036, 39554180], [39563829, 39564036], [39580964, 39581094], [39602624, 39602734], [39607385, 39607459]] [[39304307, 39304324], [39311484, 39311591], [39313475, 39313565], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39353397, 39353448], [39387723, 39387779], [39398828, 39398937], [39507778, 39507997], [39512330, 39512469], [39513358, 39513464], [39545831, 39545935], [39552673, 39552760], [39554036, 39554180], [39563829, 39564036], [39580964, 39581094], [39602624, 39602734], [39607385, 39607459]]
ENST00000287152 [[39297765, 39304324], [39311484, 39311591], [39313475, 39313565], [39314251, 39314302], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39353397, 39353448], [39387723, 39387779], [39398828, 39398937], [39507778, 39507997], [39512330, 39512469], [39513358, 39513464], [39545831, 39545935], [39552673, 39552760], [39554036, 39554180], [39563829, 39564036], [39580964, 39581094], [39602624, 39602734], [39607385, 39607533], [39682467, 39682542], [39688477, 39688587], [39693020, 39693181]] [[39304307, 39304324], [39311484, 39311591], [39313475, 39313565], [39314251, 39314302], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39353397, 39353448], [39387723, 39387779], [39398828, 39398937], [39507778, 39507997], [39512330, 39512469], [39513358, 39513464], [39545831, 39545935], [39552673, 39552760], [39554036, 39554180], [39563829, 39564036], [39580964, 39581094], [39602624, 39602734], [39607385, 39607533], [39682467, 39682542], [39688477, 39688587], [39693020, 39693086]]
ENST00000394362 [[39302875, 39304324], [39311484, 39311591], [39313475, 39313565], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39353397, 39353448], [39387723, 39387779], [39398828, 39399150]] [[39304307, 39304324], [39311484, 39311591], [39313475, 39313565], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39353397, 39353448], [39387723, 39387779], [39398828, 39398935]]
ENST00000373213 [[39302875, 39304324], [39311484, 39311591], [39313475, 39313565], [39314251, 39314302], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39353397, 39353448], [39387723, 39387779], [39398828, 39398937], [39507778, 39507997], [39512330, 39512469], [39513358, 39513464], [39545831, 39545935], [39552673, 39552760], [39554036, 39554180], [39563829, 39564036], [39580964, 39581094], [39585503, 39585529]] [[39304307, 39304324], [39311484, 39311591], [39313475, 39313565], [39314251, 39314302], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39353397, 39353448], [39387723, 39387779], [39398828, 39398937], [39507778, 39507997], [39512330, 39512469], [39513358, 39513464], [39545831, 39545935], [39552673, 39552760], [39554036, 39554180], [39563829, 39564036], [39580964, 39581094], [39585503, 39585529]]
ENST00000373216 [[39302875, 39304324], [39311484, 39311591], [39313475, 39313565], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39353397, 39353448], [39387723, 39387779], [39398828, 39398937], [39507778, 39507997], [39512330, 39512469], [39513358, 39513464], [39545831, 39545935], [39552673, 39552760], [39554036, 39554180], [39563829, 39564036], [39580964, 39581094], [39602624, 39602734], [39607385, 39607533], [39682467, 39682542], [39688477, 39688587], [39693020, 39693181]] [[39304307, 39304324], [39311484, 39311591], [39313475, 39313565], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39353397, 39353448], [39387723, 39387779], [39398828, 39398937], [39507778, 39507997], [39512330, 39512469], [39513358, 39513464], [39545831, 39545935], [39552673, 39552760], [39554036, 39554180], [39563829, 39564036], [39580964, 39581094], [39602624, 39602734], [39607385, 39607533], [39682467, 39682542], [39688477, 39688587], [39693020, 39693086]]
ENST00000229913 [[39303929, 39304324], [39311484, 39311591], [39313475, 39313565], [39314251, 39314302], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39353397, 39353448], [39387723, 39387779], [39398828, 39399089]] [[39304307, 39304324], [39311484, 39311591], [39313475, 39313565], [39314251, 39314302], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39353397, 39353448], [39387723, 39387779], [39398828, 39398935]]
ENST00000373215 [[39304238, 39304324], [39311484, 39311591], [39313475, 39313565], [39314251, 39314302], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39387723, 39387779], [39398828, 39398937], [39507778, 39507997], [39512330, 39512469], [39513358, 39513464], [39545831, 39545935], [39552673, 39552760], [39554036, 39554180], [39563829, 39564036], [39580964, 39581094], [39602624, 39602734], [39607385, 39607533], [39682467, 39682542], [39688477, 39688587], [39693020, 39693111]] [[39304307, 39304324], [39311484, 39311591], [39313475, 39313565], [39314251, 39314302], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39387723, 39387779], [39398828, 39398937], [39507778, 39507997], [39512330, 39512469], [39513358, 39513464], [39545831, 39545935], [39552673, 39552760], [39554036, 39554180], [39563829, 39564036], [39580964, 39581094], [39602624, 39602734], [39607385, 39607533], [39682467, 39682542], [39688477, 39688587], [39693020, 39693086]]
ENST00000538893 [[39304248, 39304324], [39311484, 39311591], [39313475, 39313565], [39314251, 39314302], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39353397, 39353448], [39387723, 39387779], [39398828, 39398937], [39512279, 39512469], [39513358, 39513464], [39545831, 39545935], [39552673, 39552760], [39554036, 39554180], [39563829, 39564036], [39580964, 39581094], [39602624, 39602734], [39607385, 39607533], [39682467, 39682542], [39688477, 39688587], [39693020, 39693111]] [[39304307, 39304324], [39311484, 39311591], [39313475, 39313565], [39314251, 39314302], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39353397, 39353448], [39387723, 39387779], [39398828, 39398937], [39512279, 39512469], [39513358, 39513464], [39545831, 39545935], [39552673, 39552760], [39554036, 39554180], [39563829, 39564036], [39580964, 39581094], [39602624, 39602734], [39607385, 39607533], [39682467, 39682542], [39688477, 39688587], [39693020, 39693086]]
ENST00000541946 [[39310412, 39311212], [39311484, 39311591], [39313475, 39313565], [39314251, 39314302], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39353397, 39353448], [39387723, 39387779], [39398828, 39399109]] [[39311111, 39311212], [39311484, 39311591], [39313475, 39313565], [39314251, 39314302], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39353397, 39353448], [39387723, 39387779], [39398828, 39398935]]
ENST00000441975 [[39550950, 39551255], [39552673, 39552760], [39554036, 39554180], [39563829, 39564036]] [[39551207, 39551255], [39552673, 39552760], [39554036, 39554180], [39563829, 39564036]]
ENST00000482238 [[39607453, 39607533], [39682467, 39682542], [39686197, 39686353], [39688477, 39688587], [39693020, 39693181]] None
ENST00000465719 [[39657753, 39659638], [39682467, 39682542], [39682660, 39682735]] None
NM_001289024 [[39302875, 39304324], [39311484, 39311591], [39313475, 39313565], [39314251, 39314302], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39353397, 39353448], [39387723, 39387779], [39398828, 39399150]] [[39304307, 39304324], [39311484, 39311591], [39313475, 39313565], [39314251, 39314302], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39353397, 39353448], [39387723, 39387779], [39398828, 39398935]]
NM_001289021 [[39302875, 39304324], [39311484, 39311591], [39313475, 39313565], [39314251, 39314302], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39353397, 39353448], [39387723, 39387779], [39398828, 39398937], [39512279, 39512469], [39513358, 39513464], [39545831, 39545935], [39552673, 39552760], [39554036, 39554180], [39563829, 39564036], [39580964, 39581094], [39602624, 39602734], [39607385, 39607533], [39682467, 39682542], [39688477, 39688587], [39693020, 39693181]] [[39304307, 39304324], [39311484, 39311591], [39313475, 39313565], [39314251, 39314302], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39353397, 39353448], [39387723, 39387779], [39398828, 39398937], [39512279, 39512469], [39513358, 39513464], [39545831, 39545935], [39552673, 39552760], [39554036, 39554180], [39563829, 39564036], [39580964, 39581094], [39602624, 39602734], [39607385, 39607533], [39682467, 39682542], [39688477, 39688587], [39693020, 39693086]]
NM_145027 [[39302875, 39304324], [39311484, 39311591], [39313475, 39313565], [39314251, 39314302], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39353397, 39353448], [39387723, 39387779], [39398828, 39398937], [39507778, 39507997], [39512330, 39512469], [39513358, 39513464], [39545831, 39545935], [39552673, 39552760], [39554036, 39554180], [39563829, 39564036], [39580964, 39581094], [39602624, 39602734], [39607385, 39607533], [39682467, 39682542], [39688477, 39688587], [39693020, 39693181]] [[39304307, 39304324], [39311484, 39311591], [39313475, 39313565], [39314251, 39314302], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39353397, 39353448], [39387723, 39387779], [39398828, 39398937], [39507778, 39507997], [39512330, 39512469], [39513358, 39513464], [39545831, 39545935], [39552673, 39552760], [39554036, 39554180], [39563829, 39564036], [39580964, 39581094], [39602624, 39602734], [39607385, 39607533], [39682467, 39682542], [39688477, 39688587], [39693020, 39693086]]
NM_001289020 [[39302875, 39304324], [39311484, 39311591], [39313475, 39313565], [39314251, 39314302], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39387723, 39387779], [39398828, 39398937], [39507778, 39507997], [39512330, 39512469], [39513358, 39513464], [39545831, 39545935], [39552673, 39552760], [39554036, 39554180], [39563829, 39564036], [39580964, 39581094], [39602624, 39602734], [39607385, 39607533], [39682467, 39682542], [39688477, 39688587], [39693020, 39693181]] [[39304307, 39304324], [39311484, 39311591], [39313475, 39313565], [39314251, 39314302], [39325052, 39325150], [39328170, 39328306], [39330209, 39330294], [39387723, 39387779], [39398828, 39398937], [39507778, 39507997], [39512330, 39512469], [39513358, 39513464], [39545831, 39545935], [39552673, 39552760], [39554036, 39554180], [39563829, 39564036], [39580964, 39581094], [39602624, 39602734], [39607385, 39607533], [39682467, 39682542], [39688477, 39688587], [39693020, 39693086]]
Promoter
Chrom Start End Description
chr6 39399087 39399128 CAGE_peak_3_at_KIF6_5end
chr6 39682690 39682746 CAGE_peak_2_at_KIF6_5end
chr6 39693163 39693217 CAGE_peak_1_at_KIF6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I039361 39361879 39362965 1.12 [{'connected_gene': 'KCNK17', 'score': 18.33}, {'connected_gene': 'KCNK16', 'score': 11.12}, {'connected_gene': 'LOC100124373', 'score': 0.44}, {'connected_gene': 'GC06M039593', 'score': 0.26}, {'connected_gene': 'KIF6', 'score': 0.05}]
chr6 GH06I039358 39358200 39358400 0.63 [{'connected_gene': 'KCNK17', 'score': 11.77}, {'connected_gene': 'KCNK16', 'score': 11.12}, {'connected_gene': 'LOC100124373', 'score': 0.77}, {'connected_gene': 'GC06M039593', 'score': 0.25}, {'connected_gene': 'KIF6', 'score': 0.05}]
chr6 GH06I039335 39335790 39336545 0.63 [{'connected_gene': 'KCNK17', 'score': 17.01}, {'connected_gene': 'KCNK16', 'score': 0.39}, {'connected_gene': 'LOC100124373', 'score': 0.37}, {'connected_gene': 'LOC105375047', 'score': 0.34}, {'connected_gene': 'GC06M039593', 'score': 0.19}, {'connected_gene': 'KIF6', 'score': 0.05}]
chr6 GH06I039347 39347020 39348116 0.59 [{'connected_gene': 'KCNK17', 'score': 8.85}, {'connected_gene': 'KIF6', 'score': 4.31}, {'connected_gene': 'LOC100124373', 'score': 0.44}, {'connected_gene': 'KCNK16', 'score': 0.34}, {'connected_gene': 'GC06M039593', 'score': 0.22}]
chr6 GH06I039344 39344356 39345861 0.54 [{'connected_gene': 'KCNK17', 'score': 7.02}, {'connected_gene': 'LOC100124373', 'score': 0.44}, {'connected_gene': 'KCNK16', 'score': 0.34}, {'connected_gene': 'GC06M039593', 'score': 0.21}, {'connected_gene': 'KIF6', 'score': 0.05}]
chr6 GH06I039323 39323625 39331358 0.6 [{'connected_gene': 'KCNK5', 'score': 10.11}, {'connected_gene': 'SAYSD1', 'score': 9.65}, {'connected_gene': 'KCNK17', 'score': 9.49}, {'connected_gene': 'KCNK16', 'score': 0.77}, {'connected_gene': 'LOC105375047', 'score': 0.39}, {'connected_gene': 'LOC100124373', 'score': 0.31}, {'connected_gene': 'GC06M039593', 'score': 0.18}, {'connected_gene': 'KIF6', 'score': 0.05}]
chr6 GH06I039365 39365609 39366276 0.46 [{'connected_gene': 'KCNK16', 'score': 11.59}, {'connected_gene': 'LOC100505635', 'score': 10.7}, {'connected_gene': 'LOC100124373', 'score': 0.39}, {'connected_gene': 'GC06M039593', 'score': 0.26}, {'connected_gene': 'KIF6', 'score': 0.05}]
chr6 GH06I039366 39366890 39367266 0.42 [{'connected_gene': 'KCNK16', 'score': 11.59}, {'connected_gene': 'LOC100505635', 'score': 10.7}, {'connected_gene': 'LOC100124373', 'score': 0.39}, {'connected_gene': 'GC06M039593', 'score': 0.28}, {'connected_gene': 'KIF6', 'score': 0.05}]
chr6 GH06I039497 39497105 39497234 0.54 [{'connected_gene': 'RPL23P6', 'score': 5.09}, {'connected_gene': 'GC06M039549', 'score': 0.44}, {'connected_gene': 'E2F4P1', 'score': 0.22}, {'connected_gene': 'KIF6', 'score': 0.07}]
chr6 GH06I039776 39776517 39779113 0.49 [{'connected_gene': 'DAAM2', 'score': 0.39}, {'connected_gene': 'KIF6', 'score': 0.23}]
chr6 GH06I039791 39791395 39794413 1.89 [{'connected_gene': 'DAAM2', 'score': 555.59}, {'connected_gene': 'KIF6', 'score': 4.41}, {'connected_gene': 'ENSG00000281969', 'score': 0.31}]
chr6 GH06I039764 39764958 39767022 0.43 [{'connected_gene': 'DAAM2', 'score': 12.38}, {'connected_gene': 'KIF6', 'score': 0.26}]
chr6 GH06I039769 39769132 39769331 0.44 [{'connected_gene': 'DAAM2', 'score': 21.68}, {'connected_gene': 'KIF6', 'score': 3.99}]
chr6 GH06I039678 39678168 39679837 0.2 [{'connected_gene': 'DAAM2', 'score': 10.29}, {'connected_gene': 'GC06P042415', 'score': 0.29}, {'connected_gene': 'KIF6', 'score': 0.25}]
chr6 GH06I039753 39753186 39754194 0.43 [{'connected_gene': 'DAAM2', 'score': 11.1}, {'connected_gene': 'KIF6', 'score': 0.31}]
chr6 GH06I039790 39790514 39791175 0.31 [{'connected_gene': 'DAAM2', 'score': 550.77}, {'connected_gene': 'KIF6', 'score': 4.73}]
chr6 GH06I039687 39687089 39687242 0.42 [{'connected_gene': 'DAAM2', 'score': 9.69}, {'connected_gene': 'KIF6', 'score': 3.81}, {'connected_gene': 'GC06P042415', 'score': 0.28}]
chr6 GH06I039377 39377605 39377774 0.66 [{'connected_gene': 'DAAM2', 'score': 10.23}, {'connected_gene': 'LOC100124373', 'score': 0.34}, {'connected_gene': 'GC06M039593', 'score': 0.31}, {'connected_gene': 'KIF6', 'score': 0.05}]
chr6 GH06I039402 39402015 39403040 0.2 [{'connected_gene': 'KIF6', 'score': 9.59}, {'connected_gene': 'DAAM2', 'score': 9.48}, {'connected_gene': 'GC06M039593', 'score': 0.77}, {'connected_gene': 'LOC100124373', 'score': 0.25}]
chr6 GH06I039706 39706164 39722092 0.64 [{'connected_gene': 'KIF6', 'score': 23.1}, {'connected_gene': 'DAAM2', 'score': 4.37}, {'connected_gene': 'GC06P042415', 'score': 0.2}]
chr6 GH06I039662 39662868 39668693 0.46 [{'connected_gene': 'KIF6', 'score': 22.71}, {'connected_gene': 'DAAM2', 'score': 10.18}, {'connected_gene': 'GC06P042415', 'score': 0.37}]
chr6 GH06I039430 39430032 39433094 1.3 [{'connected_gene': 'KIF6', 'score': 555.77}, {'connected_gene': 'LOC100505635', 'score': 9.98}, {'connected_gene': 'GC06M039593', 'score': 0.34}, {'connected_gene': 'GC06M039549', 'score': 0.22}]
chr6 GH06I039492 39492905 39493958 0.2 [{'connected_gene': 'KIF6', 'score': 5.02}, {'connected_gene': 'GC06M039549', 'score': 0.77}, {'connected_gene': 'E2F4P1', 'score': 0.21}]
chr6 GH06I039415 39415398 39417862 0.58 [{'connected_gene': 'KIF6', 'score': 13.14}, {'connected_gene': 'GC06M039593', 'score': 0.44}, {'connected_gene': 'GC06M039549', 'score': 0.19}]
chr6 GH06I039410 39410971 39412090 0.2 [{'connected_gene': 'KIF6', 'score': 9.03}, {'connected_gene': 'GC06M039593', 'score': 0.77}, {'connected_gene': 'GC06M039549', 'score': 0.18}]
chr6 GH06I039424 39424871 39427158 0.79 [{'connected_gene': 'KIF6', 'score': 8.77}, {'connected_gene': 'GC06M039593', 'score': 0.37}, {'connected_gene': 'GC06M039549', 'score': 0.21}]
chr6 GH06I039652 39652736 39654762 0.46 [{'connected_gene': 'KIF6', 'score': 21.62}, {'connected_gene': 'GC06P042415', 'score': 0.44}]
chr6 GH06I039724 39724801 39726000 1.89 [{'connected_gene': 'KIF6', 'score': 573.07}, {'connected_gene': 'GC06P042415', 'score': 0.18}]
chr6 GH06I039722 39722359 39723671 0.43 [{'connected_gene': 'KIF6', 'score': 0.77}, {'connected_gene': 'GC06P042415', 'score': 0.18}]
chr6 GH06I039610 39610345 39610494 0.2 [{'connected_gene': 'RNU1-54P', 'score': 0.39}, {'connected_gene': 'E2F4P1', 'score': 0.22}, {'connected_gene': 'KIF6', 'score': 0.13}]
chr6 GH06I039529 39529973 39531134 0.82 [{'connected_gene': 'E2F4P1', 'score': 0.34}, {'connected_gene': 'GC06M039549', 'score': 0.26}, {'connected_gene': 'KIF6', 'score': 0.08}]
chr6 GH06I039349 39349634 39349663 0.26 [{'connected_gene': 'LOC100124373', 'score': 0.77}, {'connected_gene': 'KCNK16', 'score': 0.31}, {'connected_gene': 'GC06M039593', 'score': 0.22}, {'connected_gene': 'KIF6', 'score': 0.05}]
chr6 GH06I039342 39342426 39343890 0.83 [{'connected_gene': 'LOC100124373', 'score': 0.39}, {'connected_gene': 'KCNK16', 'score': 0.34}, {'connected_gene': 'LOC105375047', 'score': 0.31}, {'connected_gene': 'GC06M039593', 'score': 0.21}, {'connected_gene': 'KIF6', 'score': 0.05}]
chr6 GH06I039669 39669028 39670073 0.52 [{'connected_gene': 'GC06P042415', 'score': 0.34}, {'connected_gene': 'KIF6', 'score': 0.22}]
chr6 GH06I039685 39685325 39685454 0.82 [{'connected_gene': 'GC06P042415', 'score': 0.28}, {'connected_gene': 'KIF6', 'score': 0.26}]
chr6 GH06I039453 39452425 39452574 0.43 [{'connected_gene': 'GC06M039549', 'score': 0.28}, {'connected_gene': 'GC06M039593', 'score': 0.25}, {'connected_gene': 'KIF6', 'score': 0.06}]
chr6 GH06I039452 39452023 39452134 0.43 [{'connected_gene': 'GC06M039549', 'score': 0.28}, {'connected_gene': 'GC06M039593', 'score': 0.25}, {'connected_gene': 'KIF6', 'score': 0.06}]

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