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
ENST00000531028 [[76777978, 76778141], [76795897, 76796081], [76834775, 76834962]] [[76795932, 76796081], [76834775, 76834785]]
ENST00000278559 [[76777987, 76778141], [76795897, 76796097], [76804727, 76804859], [76823634, 76823843], [76825287, 76825480], [76826440, 76826634], [76827271, 76827349], [76829202, 76829398], [76830075, 76830198], [76831758, 76831955], [76832979, 76833095], [76833621, 76833758], [76834733, 76837201]] [[76795932, 76796097], [76804727, 76804859], [76823634, 76823843], [76825287, 76825480], [76826440, 76826634], [76827271, 76827349], [76829202, 76829398], [76830075, 76830198], [76831758, 76831955], [76832979, 76833095], [76833621, 76833758], [76834733, 76834916]]
ENST00000529629 [[76778023, 76778141], [76782655, 76782728], [76795897, 76796097], [76804727, 76804859], [76823634, 76823843], [76825287, 76825480], [76826440, 76826634], [76827271, 76827349], [76829202, 76829398], [76830075, 76830198], [76831758, 76831955], [76832979, 76833095], [76833621, 76833758], [76834733, 76835100]] [[76795932, 76796097], [76804727, 76804859], [76823634, 76823843], [76825287, 76825480], [76826440, 76826634], [76827271, 76827349], [76829202, 76829398], [76830075, 76830198], [76831758, 76831955], [76832979, 76833095], [76833621, 76833758], [76834733, 76834916]]
ENST00000456580 [[76778039, 76778141], [76795897, 76796097], [76798987, 76799107], [76804727, 76804859], [76823634, 76823843], [76825287, 76825480], [76826440, 76826634], [76827271, 76827349], [76829202, 76829398], [76830075, 76830198], [76831758, 76831955], [76832979, 76833095], [76833621, 76833758], [76834733, 76835541]] [[76795932, 76796097], [76798987, 76799107], [76804727, 76804859], [76823634, 76823843], [76825287, 76825480], [76826440, 76826634], [76827271, 76827349], [76829202, 76829398], [76830075, 76830198], [76831758, 76831955], [76832979, 76833095], [76833621, 76833758], [76834733, 76834916]]
ENST00000533889 [[76796010, 76796097], [76804727, 76804859], [76823634, 76823957]] None
ENST00000527066 [[76778017, 76778141], [76784036, 76784183], [76795897, 76796097], [76804727, 76804853]] [[76795932, 76796097], [76804727, 76804853]]
ENST00000527129 [[76830452, 76831955], [76832979, 76833095], [76833621, 76833758], [76834733, 76835541]] None
NM_004055 [[76777991, 76778141], [76795897, 76796097], [76804727, 76804859], [76823634, 76823843], [76825287, 76825480], [76826440, 76826634], [76827271, 76827349], [76829202, 76829398], [76830075, 76830198], [76831758, 76831955], [76832979, 76833095], [76833621, 76833758], [76834733, 76837201]] [[76795932, 76796097], [76804727, 76804859], [76823634, 76823843], [76825287, 76825480], [76826440, 76826634], [76827271, 76827349], [76829202, 76829398], [76830075, 76830198], [76831758, 76831955], [76832979, 76833095], [76833621, 76833758], [76834733, 76834916]]
Promoter
Chrom Start End Description
chr11 76777995 76778027 CAGE_peak_1_at_CAPN5_5end
chr11 76778033 76778047 CAGE_peak_2_at_CAPN5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I077071 77071293 77076880 1.13 [{'connected_gene': 'CAPN5', 'score': 10.5}, {'connected_gene': 'ACER3', 'score': 5.04}, {'connected_gene': 'OMP', 'score': 0.31}]
chr11 GH11I077069 77069383 77070522 0.2 [{'connected_gene': 'CAPN5', 'score': 7.65}, {'connected_gene': 'ACER3', 'score': 5.04}, {'connected_gene': 'OMP', 'score': 0.29}]
chr11 GH11I077081 77081960 77083974 0.78 [{'connected_gene': 'CAPN5', 'score': 9.58}, {'connected_gene': 'OMP', 'score': 0.37}]
chr11 GH11I077065 77065434 77068124 2.11 [{'connected_gene': 'CAPN5', 'score': 558.2}, {'connected_gene': 'LOC105369400', 'score': 0.77}]
chr11 GH11I077086 77085189 77085301 0.4 [{'connected_gene': 'OMP', 'score': 0.37}, {'connected_gene': 'CAPN5', 'score': 0.37}]
chr11 GH11I077089 77089905 77091213 0.78 [{'connected_gene': 'OMP', 'score': 0.39}, {'connected_gene': 'CAPN5', 'score': 0.34}]
chr11 GH11I077094 77094675 77097463 1.06 [{'connected_gene': 'OMP', 'score': 0.44}, {'connected_gene': 'CAPN5', 'score': 0.31}]
chr11 GH11I077093 77093558 77093933 0.2 [{'connected_gene': 'OMP', 'score': 0.44}, {'connected_gene': 'CAPN5', 'score': 0.31}]
chr11 GH11I077091 77091235 77091444 1 [{'connected_gene': 'OMP', 'score': 0.39}, {'connected_gene': 'CAPN5', 'score': 0.34}]
chr11 GH11I077111 77111050 77111342 0.31 [{'connected_gene': 'OMP', 'score': 0.44}, {'connected_gene': 'MYO7A', 'score': 0.37}, {'connected_gene': 'CAPN5', 'score': 0.26}]
chr11 GH11I077112 77112743 77113565 0.56 [{'connected_gene': 'OMP', 'score': 0.39}, {'connected_gene': 'MYO7A', 'score': 0.37}, {'connected_gene': 'CAPN5', 'score': 0.25}]
chr11 GH11I077107 77107463 77108724 1.02 [{'connected_gene': 'OMP', 'score': 0.44}, {'connected_gene': 'MYO7A', 'score': 0.34}, {'connected_gene': 'CAPN5', 'score': 0.26}]
chr11 GH11I077109 77109525 77110098 0.4 [{'connected_gene': 'OMP', 'score': 0.44}, {'connected_gene': 'MYO7A', 'score': 0.37}, {'connected_gene': 'CAPN5', 'score': 0.26}]
chr11 GH11I077102 77102881 77102940 0.5 [{'connected_gene': 'OMP', 'score': 550.77}, {'connected_gene': 'MYO7A', 'score': 0.31}, {'connected_gene': 'CAPN5', 'score': 0.28}]
chr11 GH11I077085 77085606 77089796 1.19 [{'connected_gene': 'AAMDC', 'score': 4.97}, {'connected_gene': 'NDUFC2', 'score': 4.26}, {'connected_gene': 'OMP', 'score': 0.37}, {'connected_gene': 'CAPN5', 'score': 0.34}]
chr11 GH11I077298 77298978 77300532 0.93 [{'connected_gene': 'GDPD4', 'score': 569.67}, {'connected_gene': 'TOMM20P1', 'score': 550.77}, {'connected_gene': 'CAPN5', 'score': 5.11}, {'connected_gene': 'PIR53181', 'score': 0.18}]
chr11 GH11I077034 77034169 77037366 1.58 [{'connected_gene': 'B3GNT6', 'score': 550.77}, {'connected_gene': 'OMP', 'score': 11.97}, {'connected_gene': 'MYO7A', 'score': 10.86}, {'connected_gene': 'ACER3', 'score': 10.79}, {'connected_gene': 'CAPN5', 'score': 7.34}, {'connected_gene': 'LOC105369399', 'score': 0.39}]
chr11 GH11I077045 77045794 77048383 1.33 [{'connected_gene': 'LOC105369399', 'score': 550.77}, {'connected_gene': 'OMP', 'score': 12.56}, {'connected_gene': 'CAPN5', 'score': 6.08}, {'connected_gene': 'B3GNT6', 'score': 0.39}]

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