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
ENST00000376300 [[118673053, 118677972], [118688612, 118688726], [118693070, 118693155], [118694277, 118694315], [118696604, 118696687], [118698764, 118698873], [118701599, 118701662], [118703104, 118703158], [118704386, 118704458], [118705680, 118705762], [118706897, 118706971], [118709948, 118710011], [118715940, 118716057], [118731483, 118731570], [118732425, 118732476], [118732763, 118732856], [118735569, 118735606], [118743544, 118743645], [118753021, 118753078], [118753839, 118753938], [118758396, 118758508], [118764297, 118764392], [118766120, 118766234], [118771529, 118771709]] [[118677918, 118677972], [118688612, 118688726], [118693070, 118693155], [118694277, 118694315], [118696604, 118696687], [118698764, 118698873], [118701599, 118701662], [118703104, 118703158], [118704386, 118704458], [118705680, 118705762], [118706897, 118706971], [118709948, 118710011], [118715940, 118716057], [118731483, 118731570], [118732425, 118732476], [118732763, 118732856], [118735569, 118735606], [118743544, 118743645], [118753021, 118753078], [118753839, 118753938], [118758396, 118758508], [118764297, 118764392], [118766120, 118766234], [118771529, 118771571]]
ENST00000319432 [[118673053, 118677972], [118688612, 118688726], [118693070, 118693155], [118694277, 118694315], [118696604, 118696687], [118698764, 118698873], [118701599, 118701662], [118703104, 118703158], [118704386, 118704458], [118705680, 118705762], [118706897, 118706971], [118709948, 118710011], [118715940, 118716057], [118731483, 118731570], [118732425, 118732476], [118732763, 118732856], [118735569, 118735603], [118743544, 118743645], [118753021, 118753078], [118753839, 118753938], [118758396, 118758508], [118764297, 118764392], [118766120, 118766234], [118771529, 118771709]] [[118677918, 118677972], [118688612, 118688726], [118693070, 118693155], [118694277, 118694315], [118696604, 118696687], [118698764, 118698873], [118701599, 118701662], [118703104, 118703158], [118704386, 118704458], [118705680, 118705762], [118706897, 118706971], [118709948, 118710011], [118715940, 118716057], [118731483, 118731570], [118732425, 118732476], [118732763, 118732856], [118735569, 118735603], [118743544, 118743645], [118753021, 118753078], [118753839, 118753938], [118758396, 118758508], [118764297, 118764392], [118766120, 118766234], [118771529, 118771571]]
ENST00000460781 [[118709064, 118709277], [118709948, 118710011], [118715940, 118716054], [118731483, 118731570], [118732425, 118732476], [118732763, 118732856], [118735569, 118735606], [118743544, 118743645], [118753021, 118753078], [118753839, 118753865]] None
ENST00000437999 [[118677880, 118677972], [118688612, 118688726], [118693070, 118693155], [118694277, 118694315], [118696604, 118696687], [118698764, 118698873], [118701599, 118701662], [118702308, 118702373], [118703104, 118703158], [118704386, 118704458], [118705680, 118705755]] [[118701652, 118701662], [118702308, 118702373], [118703104, 118703158], [118704386, 118704458], [118705680, 118705755]]
ENST00000474546 [[118688618, 118688726], [118693070, 118693414]] None
ENST00000470650 [[118693073, 118693155], [118694277, 118694477]] None
ENST00000466171 [[118694087, 118694315], [118696604, 118696687], [118698764, 118698873], [118701599, 118701656]] None
ENST00000488908 [[118705608, 118705762], [118706897, 118706971], [118709948, 118709988]] None
ENST00000474006 [[118753027, 118753078], [118753839, 118753938], [118758396, 118758713]] None
NM_019044 [[118673053, 118677972], [118688612, 118688726], [118693070, 118693155], [118694277, 118694315], [118696604, 118696687], [118698764, 118698873], [118701599, 118701662], [118703104, 118703158], [118704386, 118704458], [118705680, 118705762], [118706897, 118706971], [118709948, 118710011], [118715940, 118716057], [118731483, 118731570], [118732425, 118732476], [118732763, 118732856], [118735569, 118735606], [118743544, 118743645], [118753021, 118753078], [118753839, 118753938], [118758396, 118758508], [118764297, 118764392], [118766120, 118766234], [118771529, 118771739]] [[118677918, 118677972], [118688612, 118688726], [118693070, 118693155], [118694277, 118694315], [118696604, 118696687], [118698764, 118698873], [118701599, 118701662], [118703104, 118703158], [118704386, 118704458], [118705680, 118705762], [118706897, 118706971], [118709948, 118710011], [118715940, 118716057], [118731483, 118731570], [118732425, 118732476], [118732763, 118732856], [118735569, 118735606], [118743544, 118743645], [118753021, 118753078], [118753839, 118753938], [118758396, 118758508], [118764297, 118764392], [118766120, 118766234], [118771529, 118771571]]
Promoter
Chrom Start End Description
chr2 118771594 118771685 CAGE_peak_1_at_CCDC93_5end
chr2 118771701 118771727 CAGE_peak_2_at_CCDC93_5end
chr2 118771733 118771744 CAGE_peak_3_at_CCDC93_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I117813 117813464 117816946 2.1 [{'connected_gene': 'DDX18', 'score': 583.53}, {'connected_gene': 'CCDC93', 'score': 18.05}, {'connected_gene': 'LOC102723413', 'score': 10.18}, {'connected_gene': 'HTR5BP', 'score': 9.85}, {'connected_gene': 'GC02P117861', 'score': 0.37}]
chr2 GH02I118054 118054720 118056937 0.94 [{'connected_gene': 'HTR5BP', 'score': 10.48}, {'connected_gene': 'CCDC93', 'score': 5.91}, {'connected_gene': 'DDX18', 'score': 5.25}, {'connected_gene': 'INSIG2', 'score': 0.29}, {'connected_gene': 'RN7SL111P', 'score': 0.28}, {'connected_gene': 'LOC102723413', 'score': 0.21}]
chr2 GH02I117801 117801281 117802525 0.2 [{'connected_gene': 'HTR5BP', 'score': 9.81}, {'connected_gene': 'CCDC93', 'score': 7.12}, {'connected_gene': 'ENSG00000236255', 'score': 4.37}, {'connected_gene': 'ENSG00000238207', 'score': 0.77}, {'connected_gene': 'PIR61142', 'score': 0.06}]
chr2 GH02I118120 118120429 118120806 0.39 [{'connected_gene': 'CCDC93', 'score': 6.21}, {'connected_gene': 'HTR5BP', 'score': 4.25}, {'connected_gene': 'DDX18', 'score': 2.48}, {'connected_gene': 'GC02M118122', 'score': 0.77}, {'connected_gene': 'INSIG2', 'score': 0.29}]
chr2 GH02I117982 117982609 117983418 0.54 [{'connected_gene': 'CCDC93', 'score': 24.48}, {'connected_gene': 'HTR5BP', 'score': 10.53}, {'connected_gene': 'DDX18', 'score': 1.69}, {'connected_gene': 'GC02M117974', 'score': 0.44}, {'connected_gene': 'GC02M117973', 'score': 0.44}, {'connected_gene': 'LOC102723413', 'score': 0.39}]
chr2 GH02I117978 117978955 117982603 1.13 [{'connected_gene': 'CCDC93', 'score': 24.02}, {'connected_gene': 'HTR5BP', 'score': 10.39}, {'connected_gene': 'DDX18', 'score': 7.67}, {'connected_gene': 'GC02M117974', 'score': 0.44}, {'connected_gene': 'GC02M117973', 'score': 0.44}, {'connected_gene': 'LOC102723413', 'score': 0.39}]
chr2 GH02I118012 118012561 118015170 1.96 [{'connected_gene': 'CCDC93', 'score': 562.93}, {'connected_gene': 'GC02P118015', 'score': 550.77}, {'connected_gene': 'ENSG00000279227', 'score': 550.77}, {'connected_gene': 'HTR5BP', 'score': 7.96}, {'connected_gene': 'LOC102723413', 'score': 0.37}, {'connected_gene': 'ENSG00000272895', 'score': 0.37}]
chr2 GH02I118059 118059330 118061401 0.95 [{'connected_gene': 'CCDC93', 'score': 19.03}, {'connected_gene': 'INSIG2', 'score': 6.38}, {'connected_gene': 'DDX18', 'score': 5.56}, {'connected_gene': 'RN7SL111P', 'score': 0.26}]
chr2 GH02I118053 118053328 118053597 0.4 [{'connected_gene': 'CCDC93', 'score': 15.94}, {'connected_gene': 'INSIG2', 'score': 11.85}, {'connected_gene': 'LOC102723413', 'score': 9.82}, {'connected_gene': 'RN7SL111P', 'score': 0.28}]
chr2 GH02I118112 118112318 118114012 1.27 [{'connected_gene': 'CCDC93', 'score': 6.53}, {'connected_gene': 'INSIG2', 'score': 6.27}, {'connected_gene': 'GC02M118122', 'score': 0.44}]
chr2 GH02I117984 117984211 117984479 0.45 [{'connected_gene': 'CCDC93', 'score': 13.26}, {'connected_gene': 'RN7SL111P', 'score': 11.76}, {'connected_gene': 'GC02M117974', 'score': 0.39}, {'connected_gene': 'GC02M117973', 'score': 0.39}, {'connected_gene': 'LOC102723413', 'score': 0.39}]
chr2 GH02I117835 117835545 117836847 1.19 [{'connected_gene': 'CCDC93', 'score': 19.26}, {'connected_gene': 'LOC102723413', 'score': 10.67}, {'connected_gene': 'DDX18', 'score': 6.34}, {'connected_gene': 'ENSG00000236255', 'score': 0.77}, {'connected_gene': 'GC02P117861', 'score': 0.77}, {'connected_gene': 'HTR5BP', 'score': 0.34}]
chr2 GH02I117820 117820498 117820875 0.41 [{'connected_gene': 'CCDC93', 'score': 16.38}, {'connected_gene': 'LOC102723413', 'score': 10.19}, {'connected_gene': 'ENSG00000236255', 'score': 9.43}, {'connected_gene': 'DDX18', 'score': 8.54}, {'connected_gene': 'GC02P117861', 'score': 0.39}]
chr2 GH02I117942 117942023 117943814 0.2 [{'connected_gene': 'CCDC93', 'score': 24.01}, {'connected_gene': 'LOC102723413', 'score': 11.51}, {'connected_gene': 'HTR5BP', 'score': 10.58}, {'connected_gene': 'INSIG2', 'score': 4.61}, {'connected_gene': 'ENSG00000224967', 'score': 0.44}, {'connected_gene': 'PIR61440', 'score': 0.39}]
chr2 GH02I117855 117855381 117857486 0.86 [{'connected_gene': 'CCDC93', 'score': 16.87}, {'connected_gene': 'LOC102723413', 'score': 10.53}, {'connected_gene': 'INSIG2', 'score': 6.07}, {'connected_gene': 'HTR5BP', 'score': 0.77}, {'connected_gene': 'ENSG00000236255', 'score': 0.34}, {'connected_gene': 'GC02P117861', 'score': 0.31}]
chr2 GH02I118145 118145908 118147230 0.72 [{'connected_gene': 'CCDC93', 'score': 15.35}, {'connected_gene': 'LOC102723413', 'score': 9.96}, {'connected_gene': 'INSIG2', 'score': 6.73}, {'connected_gene': 'GC02P118132', 'score': 0.39}, {'connected_gene': 'LOC100506797', 'score': 0.28}]
chr2 GH02I118118 118118625 118118774 0.64 [{'connected_gene': 'CCDC93', 'score': 9.46}, {'connected_gene': 'LOC102723413', 'score': 9.44}, {'connected_gene': 'GC02M118122', 'score': 0.77}, {'connected_gene': 'INSIG2', 'score': 0.29}]
chr2 GH02I118095 118095725 118095874 0.72 [{'connected_gene': 'CCDC93', 'score': 10.13}, {'connected_gene': 'LOC102723413', 'score': 10.1}, {'connected_gene': 'INSIG2', 'score': 0.44}, {'connected_gene': 'GC02M118122', 'score': 0.31}]
chr2 GH02I118101 118101761 118103854 0.38 [{'connected_gene': 'CCDC93', 'score': 9.48}, {'connected_gene': 'LOC102723413', 'score': 9.46}, {'connected_gene': 'INSIG2', 'score': 7.34}, {'connected_gene': 'GC02M118122', 'score': 0.37}]
chr2 GH02I118114 118114472 118116822 0.46 [{'connected_gene': 'CCDC93', 'score': 19.22}, {'connected_gene': 'LOC102723413', 'score': 9.44}, {'connected_gene': 'INSIG2', 'score': 7.2}, {'connected_gene': 'GC02M118122', 'score': 0.44}]
chr2 GH02I118010 118010801 118011000 0.72 [{'connected_gene': 'CCDC93', 'score': 0.77}, {'connected_gene': 'ENSG00000272895', 'score': 0.39}, {'connected_gene': 'LOC102723413', 'score': 0.37}]
chr2 GH02I118084 118084746 118091000 2.54 [{'connected_gene': 'INSIG2', 'score': 564.82}, {'connected_gene': 'CCDC93', 'score': 9.91}, {'connected_gene': 'HTR5BP', 'score': 8.24}, {'connected_gene': 'DDX18', 'score': 4.19}, {'connected_gene': 'RN7SL111P', 'score': 0.19}]
chr2 GH02I118016 118016904 118017388 0.56 [{'connected_gene': 'RN7SL111P', 'score': 550.77}, {'connected_gene': 'CCDC93', 'score': 18.89}, {'connected_gene': 'DDX18', 'score': 2.5}, {'connected_gene': 'LOC102723413', 'score': 0.34}, {'connected_gene': 'INSIG2', 'score': 0.19}]
chr2 GH02I118047 118047201 118048156 0.6 [{'connected_gene': 'RN7SL111P', 'score': 10.74}, {'connected_gene': 'CCDC93', 'score': 10.74}, {'connected_gene': 'INSIG2', 'score': 0.26}, {'connected_gene': 'LOC102723413', 'score': 0.23}]
chr2 GH02I117803 117803601 117804200 0.79 [{'connected_gene': 'ENSG00000238207', 'score': 550.77}, {'connected_gene': 'ENSG00000236255', 'score': 9.87}, {'connected_gene': 'HTR5BP', 'score': 9.81}, {'connected_gene': 'CCDC93', 'score': 7.93}, {'connected_gene': 'DDX18', 'score': 6.23}, {'connected_gene': 'PIR61142', 'score': 0.06}]
chr2 GH02I117916 117916918 117917771 0.71 [{'connected_gene': 'PIR40982', 'score': 550.77}, {'connected_gene': 'PIR51831', 'score': 550.77}, {'connected_gene': 'CCDC93', 'score': 24.97}, {'connected_gene': 'HTR5BP', 'score': 10.62}, {'connected_gene': 'LOC102723413', 'score': 10.57}, {'connected_gene': 'LOC101929908', 'score': 0.77}]
chr2 GH02I117935 117935004 117935456 0.2 [{'connected_gene': 'ENSG00000224967', 'score': 550.77}, {'connected_gene': 'CCDC93', 'score': 22.79}, {'connected_gene': 'LOC102723413', 'score': 10.28}, {'connected_gene': 'INSIG2', 'score': 4.33}, {'connected_gene': 'LOC101929908', 'score': 0.39}, {'connected_gene': 'PIR61440', 'score': 0.34}]
chr2 GH02I117972 117972138 117974089 0.31 [{'connected_gene': 'GC02M117974', 'score': 550.77}, {'connected_gene': 'GC02M117973', 'score': 550.77}, {'connected_gene': 'CCDC93', 'score': 27.85}, {'connected_gene': 'LOC102723413', 'score': 11.82}, {'connected_gene': 'RN7SL111P', 'score': 11.16}, {'connected_gene': 'PIR61440', 'score': 0.37}]
chr2 GH02I117957 117957738 117959265 0.7 [{'connected_gene': 'PIR61440', 'score': 550.77}, {'connected_gene': 'CCDC93', 'score': 23.81}, {'connected_gene': 'LOC102723413', 'score': 11.34}, {'connected_gene': 'GC02M117974', 'score': 0.37}, {'connected_gene': 'GC02M117973', 'score': 0.37}]
chr2 GH02I118003 118003425 118003614 0.82 [{'connected_gene': 'ENSG00000272895', 'score': 0.77}, {'connected_gene': 'LOC102723413', 'score': 0.44}, {'connected_gene': 'CCDC93', 'score': 0.39}]
chr2 GH02I118004 118003665 118003814 0.77 [{'connected_gene': 'ENSG00000272895', 'score': 0.77}, {'connected_gene': 'LOC102723413', 'score': 0.44}, {'connected_gene': 'CCDC93', 'score': 0.39}]

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