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
ENST00000254035 [[80529103, 80529196], [80546931, 80547103], [80548513, 80548712], [80550214, 80550310], [80550811, 80551033], [80552733, 80552819], [80553551, 80553675], [80554938, 80555073], [80559309, 80559435], [80561957, 80562216]] [[80546951, 80547103], [80548513, 80548712], [80550214, 80550310], [80550811, 80551033], [80552733, 80552819], [80553551, 80553675], [80554938, 80555073], [80559309, 80559435], [80561957, 80562077]]
ENST00000511719 [[80529138, 80529200], [80546931, 80547103], [80548513, 80548712], [80550214, 80550310], [80550811, 80550876]] [[80546951, 80547103], [80548513, 80548712], [80550214, 80550310], [80550811, 80550876]]
ENST00000437669 [[80529138, 80529200], [80546931, 80547103], [80548513, 80548712], [80550214, 80550310], [80550811, 80551033], [80552733, 80552819], [80553551, 80553675], [80554938, 80555073], [80559309, 80559435], [80561957, 80562214]] [[80546951, 80547103], [80548513, 80548712], [80550214, 80550310], [80550811, 80551033], [80552733, 80552819], [80553551, 80553675], [80554938, 80555073], [80559309, 80559435], [80561957, 80562077]]
ENST00000513094 [[80529142, 80529196], [80546931, 80547103], [80548513, 80548712], [80550214, 80550310], [80550763, 80550793]] None
ENST00000515615 [[80529142, 80529196], [80546931, 80547103], [80548513, 80548712], [80550214, 80550310], [80550799, 80550859]] None
ENST00000424301 [[80529142, 80529196], [80539860, 80540024], [80546931, 80547103], [80548513, 80548712], [80550214, 80550310], [80550811, 80551033], [80552733, 80552819], [80553551, 80553675], [80554938, 80555073], [80559309, 80559435], [80561957, 80562216]] [[80546951, 80547103], [80548513, 80548712], [80550214, 80550310], [80550811, 80551033], [80552733, 80552819], [80553551, 80553675], [80554938, 80555073], [80559309, 80559435], [80561957, 80562077]]
ENST00000505060 [[80529143, 80529196], [80546931, 80547103], [80548513, 80548712], [80550214, 80550310], [80552733, 80552759]] [[80546951, 80547103], [80548513, 80548712], [80550214, 80550310], [80552733, 80552759]]
ENST00000515238 [[80529144, 80529200], [80546931, 80547103], [80548513, 80548712], [80550214, 80550366]] None
ENST00000505704 [[80529157, 80529200], [80546931, 80547103], [80547714, 80548105]] None
ENST00000505135 [[80548551, 80548712], [80550214, 80550310], [80550811, 80551033], [80553551, 80553742]] None
ENST00000514086 [[80550399, 80551033], [80553551, 80553675], [80554938, 80555073], [80559309, 80559435], [80561957, 80562215]] None
ENST00000505850 [[80550801, 80551033], [80552733, 80552819], [80553551, 80553675], [80554938, 80555203]] None
NM_001099735 [[80529138, 80529196], [80546931, 80547103], [80548513, 80548712], [80550214, 80550310], [80550811, 80551033], [80552733, 80552819], [80553551, 80553675], [80554938, 80555073], [80559309, 80559435], [80561957, 80562217]] [[80546951, 80547103], [80548513, 80548712], [80550214, 80550310], [80550811, 80551033], [80552733, 80552819], [80553551, 80553675], [80554938, 80555073], [80559309, 80559435], [80561957, 80562077]]
NM_001825 [[80529138, 80529196], [80539860, 80540024], [80546931, 80547103], [80548513, 80548712], [80550214, 80550310], [80550811, 80551033], [80552733, 80552819], [80553551, 80553675], [80554938, 80555073], [80559309, 80559435], [80561957, 80562217]] [[80546951, 80547103], [80548513, 80548712], [80550214, 80550310], [80550811, 80551033], [80552733, 80552819], [80553551, 80553675], [80554938, 80555073], [80559309, 80559435], [80561957, 80562077]]
NM_001099736 [[80529138, 80529200], [80546931, 80547103], [80548513, 80548712], [80550214, 80550310], [80550811, 80551033], [80552733, 80552819], [80553551, 80553675], [80554938, 80555073], [80559309, 80559435], [80561957, 80562217]] [[80546951, 80547103], [80548513, 80548712], [80550214, 80550310], [80550811, 80551033], [80552733, 80552819], [80553551, 80553675], [80554938, 80555073], [80559309, 80559435], [80561957, 80562077]]
Promoter
Chrom Start End Description
chr5 80529020 80529031 CAGE_peak_2_at_CKMT2_5end
chr5 80529134 80529149 CAGE_peak_1_at_CKMT2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I081352 81352887 81355101 0.88 [{'connected_gene': 'ZCCHC9', 'score': 16.66}, {'connected_gene': 'CKMT2-AS1', 'score': 16.06}, {'connected_gene': 'ACOT12', 'score': 11.78}, {'connected_gene': 'CKMT2', 'score': 10.08}, {'connected_gene': 'GC05M081320', 'score': 0.31}]
chr5 GH05I081212 81212252 81212989 0.6 [{'connected_gene': 'CKMT2', 'score': 11.8}, {'connected_gene': 'ENSG00000249772', 'score': 10.06}, {'connected_gene': 'ENSG00000248794', 'score': 9.84}, {'connected_gene': 'ATG10', 'score': 4.79}, {'connected_gene': 'GC05P081229', 'score': 0.39}, {'connected_gene': 'CKMT2-AS1', 'score': 0.17}, {'connected_gene': 'RASGRF2', 'score': 0.07}]
chr5 GH05I081231 81231597 81236383 2.12 [{'connected_gene': 'CKMT2', 'score': 550.77}, {'connected_gene': 'GC05M081226', 'score': 550.77}, {'connected_gene': 'CKMT2-AS1', 'score': 38.39}, {'connected_gene': 'ENSG00000248794', 'score': 28.46}, {'connected_gene': 'ENSG00000249772', 'score': 9.18}, {'connected_gene': 'GC05P081229', 'score': 0.44}]
chr5 GH05I081267 81267974 81270462 0.95 [{'connected_gene': 'CKMT2-AS1', 'score': 33.45}, {'connected_gene': 'ZCCHC9', 'score': 11.34}, {'connected_gene': 'CKMT2', 'score': 10.93}, {'connected_gene': 'ENSG00000248794', 'score': 8.82}]
chr5 GH05I081255 81255819 81256119 0.24 [{'connected_gene': 'CKMT2-AS1', 'score': 22.03}, {'connected_gene': 'CKMT2', 'score': 12.21}, {'connected_gene': 'ENSG00000248794', 'score': 0.39}]
chr5 GH05I081244 81244252 81248553 0.86 [{'connected_gene': 'CKMT2-AS1', 'score': 34.31}, {'connected_gene': 'ENSG00000248794', 'score': 29.98}, {'connected_gene': 'CKMT2', 'score': 0.39}]
chr5 GH05I081184 81184073 81185181 0.49 [{'connected_gene': 'ENSG00000249772', 'score': 11.08}, {'connected_gene': 'CKMT2', 'score': 10.88}, {'connected_gene': 'GC05P081229', 'score': 0.26}, {'connected_gene': 'RASGRF2', 'score': 0.07}]
chr5 GH05I081165 81165622 81165771 0.69 [{'connected_gene': 'ENSG00000249772', 'score': 11.03}, {'connected_gene': 'CKMT2', 'score': 10.05}, {'connected_gene': 'ENSG00000248794', 'score': 5.86}, {'connected_gene': 'GC05P081229', 'score': 0.21}, {'connected_gene': 'RASGRF2', 'score': 0.08}]
chr5 GH05I081243 81243233 81243682 0.58 [{'connected_gene': 'ENSG00000248794', 'score': 579.98}, {'connected_gene': 'CKMT2', 'score': 0.39}, {'connected_gene': 'CKMT2-AS1', 'score': 0.22}]
chr5 GH05I081250 81250302 81253070 0.2 [{'connected_gene': 'ENSG00000248794', 'score': 29.93}, {'connected_gene': 'CKMT2', 'score': 0.37}, {'connected_gene': 'CKMT2-AS1', 'score': 0.25}]
chr5 GH05I081238 81238258 81241516 0.2 [{'connected_gene': 'ENSG00000248794', 'score': 30.04}, {'connected_gene': 'CKMT2-AS1', 'score': 18.17}, {'connected_gene': 'ENSG00000249772', 'score': 9.18}, {'connected_gene': 'CKMT2', 'score': 0.44}, {'connected_gene': 'GC05M081226', 'score': 0.44}]

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