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
ENST00000368503 [[117803819, 117804056], [117824929, 117825142], [117840978, 117841113], [117842687, 117842739], [117846524, 117846597], [117853422, 117853556], [117858347, 117858388], [117864286, 117864374], [117865690, 117865740], [117866640, 117866760], [117869069, 117869602]] [[117803944, 117804056], [117824929, 117825142], [117840978, 117841113], [117842687, 117842739], [117846524, 117846597], [117853422, 117853556], [117858347, 117858388], [117864286, 117864374], [117865690, 117865740], [117866640, 117866760], [117869069, 117869602]]
ENST00000296955 [[117803819, 117804056], [117824929, 117825142], [117840978, 117841113], [117842687, 117842739], [117846524, 117846597], [117853422, 117853556], [117858347, 117858388], [117859782, 117859998], [117860417, 117860542], [117861830, 117861978], [117862080, 117862188], [117864286, 117864374], [117865690, 117865740], [117866640, 117866760], [117890782, 117891021]] [[117803944, 117804056], [117824929, 117825142], [117840978, 117841113], [117842687, 117842739], [117846524, 117846597], [117853422, 117853556], [117858347, 117858388], [117859782, 117859998], [117860417, 117860542], [117861830, 117861978], [117862080, 117862188], [117864286, 117864374], [117865690, 117865740], [117866640, 117866760], [117890782, 117890787]]
ENST00000338728 [[117803824, 117804056], [117824929, 117825142], [117840978, 117841113], [117842687, 117842739], [117846524, 117846597], [117853422, 117853556], [117858347, 117858388], [117859782, 117859998], [117860417, 117860542], [117861830, 117861978], [117862080, 117862188], [117864286, 117864374], [117865690, 117865740], [117866640, 117866760], [117869069, 117870960]] [[117803944, 117804056], [117824929, 117825142], [117840978, 117841113], [117842687, 117842739], [117846524, 117846597], [117853422, 117853556], [117858347, 117858388], [117859782, 117859998], [117860417, 117860542], [117861830, 117861978], [117862080, 117862188], [117864286, 117864374], [117865690, 117865740], [117866640, 117866760], [117869069, 117869602]]
ENST00000533453 [[117824721, 117825142], [117840978, 117841113], [117842687, 117842739], [117853422, 117853556], [117858347, 117858388], [117859782, 117861978], [117862080, 117862188], [117864286, 117864374], [117865690, 117865740], [117866640, 117866760], [117890782, 117891021]] None
ENST00000528138 [[117774979, 117775060], [117785218, 117785328], [117801508, 117801633], [117802024, 117802162], [117815918, 117816029]] None
ENST00000525483 [[117774979, 117775060], [117801508, 117801633], [117802024, 117802162], [117824929, 117825127]] None
ENST00000533950 [[117774996, 117775060], [117801508, 117801633], [117802024, 117802162], [117806112, 117806205]] None
ENST00000528162 [[117803802, 117804056], [117806112, 117806203], [117824929, 117825062]] None
ENST00000481630 [[117824946, 117825142], [117829177, 117829278]] None
ENST00000424717 [[117859937, 117859998], [117860417, 117860542], [117862080, 117862188], [117864286, 117864374], [117865690, 117865740], [117866640, 117866760], [117869069, 117869091]] [[117859937, 117859998], [117860417, 117860542], [117862080, 117862188], [117864286, 117864292]]
ENST00000534777 [[117860471, 117860542], [117861830, 117861978], [117862080, 117862188], [117865690, 117865740], [117866640, 117866760], [117869069, 117869142]] None
ENST00000478345 [[117862080, 117862188], [117864286, 117864374], [117865694, 117865740], [117866640, 117866760], [117869069, 117869094]] None
ENST00000487076 [[117865432, 117865740], [117866640, 117866719]] None
NM_173674 [[117803766, 117804056], [117824929, 117825142], [117840978, 117841113], [117842687, 117842739], [117846524, 117846597], [117853422, 117853556], [117858347, 117858388], [117859782, 117859998], [117860417, 117860542], [117861830, 117861978], [117862080, 117862188], [117864286, 117864374], [117865690, 117865740], [117866640, 117866760], [117890782, 117891021]] [[117803944, 117804056], [117824929, 117825142], [117840978, 117841113], [117842687, 117842739], [117846524, 117846597], [117853422, 117853556], [117858347, 117858388], [117859782, 117859998], [117860417, 117860542], [117861830, 117861978], [117862080, 117862188], [117864286, 117864374], [117865690, 117865740], [117866640, 117866760], [117890782, 117890787]]
Promoter
Chrom Start End Description
chr6 117803797 117803844 CAGE_peak_1_at_DCBLD1_5end
chr6 117803847 117803869 CAGE_peak_2_at_DCBLD1_5end
chr6 117803876 117803888 CAGE_peak_3_at_DCBLD1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I117425 117425267 117426840 0.81 [{'connected_gene': 'ROS1', 'score': 555.71}, {'connected_gene': 'DCBLD1', 'score': 10.82}, {'connected_gene': 'ENSG00000226181', 'score': 10.82}, {'connected_gene': 'RAP1BP3', 'score': 0.44}, {'connected_gene': 'ENSG00000282218', 'score': 0.11}]
chr6 GH06I117401 117401798 117401915 0.23 [{'connected_gene': 'ROS1', 'score': 16.06}, {'connected_gene': 'DCBLD1', 'score': 10.92}, {'connected_gene': 'ENSG00000226181', 'score': 10.92}, {'connected_gene': 'PIR54307', 'score': 0.31}, {'connected_gene': 'ENSG00000282218', 'score': 0.09}]
chr6 GH06I117535 117535918 117537136 0.69 [{'connected_gene': 'ROS1', 'score': 4.27}, {'connected_gene': 'PIR41328', 'score': 0.44}, {'connected_gene': 'ENSG00000282218', 'score': 0.28}, {'connected_gene': 'DCBLD1', 'score': 0.18}]
chr6 GH06I117599 117599427 117604226 2.1 [{'connected_gene': 'GOPC', 'score': 562.02}, {'connected_gene': 'NEPNP', 'score': 550.77}, {'connected_gene': 'NUS1', 'score': 10.82}, {'connected_gene': 'DCBLD1', 'score': 9.51}, {'connected_gene': 'ROS1', 'score': 5.51}, {'connected_gene': 'GC06M117575', 'score': 0.31}]
chr6 GH06I117547 117547444 117551225 1.01 [{'connected_gene': 'GOPC', 'score': 28.9}, {'connected_gene': 'DCBLD1', 'score': 22.42}, {'connected_gene': 'ENSG00000226181', 'score': 12.59}, {'connected_gene': 'RNU6-253P', 'score': 11.78}, {'connected_gene': 'ROS1', 'score': 10.3}, {'connected_gene': 'NUS1', 'score': 10.22}, {'connected_gene': 'LOC644303', 'score': 10.13}, {'connected_gene': 'PIR41328', 'score': 0.37}, {'connected_gene': 'ENSG00000282218', 'score': 0.34}]
chr6 GH06I117463 117463412 117465518 0.94 [{'connected_gene': 'DCBLD1', 'score': 19.16}, {'connected_gene': 'ROS1', 'score': 4.86}, {'connected_gene': 'RNU6-253P', 'score': 0.44}, {'connected_gene': 'PIR41328', 'score': 0.2}, {'connected_gene': 'ENSG00000282218', 'score': 0.14}]
chr6 GH06I117555 117555801 117556025 0.77 [{'connected_gene': 'DCBLD1', 'score': 12.59}, {'connected_gene': 'ENSG00000226181', 'score': 12.59}, {'connected_gene': 'GOPC', 'score': 11.08}, {'connected_gene': 'RNU6-253P', 'score': 10.82}, {'connected_gene': 'ROS1', 'score': 10.3}, {'connected_gene': 'NUS1', 'score': 10.04}, {'connected_gene': 'ENSG00000282218', 'score': 0.37}, {'connected_gene': 'PIR41328', 'score': 0.31}]
chr6 GH06I117556 117556038 117556147 0.57 [{'connected_gene': 'DCBLD1', 'score': 12.59}, {'connected_gene': 'ENSG00000226181', 'score': 12.59}, {'connected_gene': 'GOPC', 'score': 11.08}, {'connected_gene': 'RNU6-253P', 'score': 10.82}, {'connected_gene': 'ROS1', 'score': 10.29}, {'connected_gene': 'NUS1', 'score': 10.04}, {'connected_gene': 'ENSG00000282218', 'score': 0.37}, {'connected_gene': 'PIR41328', 'score': 0.31}]
chr6 GH06I117481 117481100 117484560 2.5 [{'connected_gene': 'DCBLD1', 'score': 574.87}, {'connected_gene': 'RPL29P4', 'score': 4.81}, {'connected_gene': 'RNU6-253P', 'score': 0.34}, {'connected_gene': 'PIR41328', 'score': 0.25}, {'connected_gene': 'ENSG00000282218', 'score': 0.16}]
chr6 GH06I117446 117446592 117450373 1.17 [{'connected_gene': 'DCBLD1', 'score': 14.78}, {'connected_gene': 'SLC35F1', 'score': 8.78}, {'connected_gene': 'CALHM6', 'score': 3.8}, {'connected_gene': 'ENSG00000226181', 'score': 0.44}, {'connected_gene': 'RAP1BP3', 'score': 0.37}, {'connected_gene': 'ENSG00000282218', 'score': 0.13}]
chr6 GH06I117439 117439795 117442811 1.34 [{'connected_gene': 'DCBLD1', 'score': 10.28}, {'connected_gene': 'NUS1', 'score': 9.71}, {'connected_gene': 'ROS1', 'score': 5.35}, {'connected_gene': 'RAP1BP3', 'score': 0.44}, {'connected_gene': 'ENSG00000226181', 'score': 0.39}, {'connected_gene': 'ENSG00000282218', 'score': 0.12}]
chr6 GH06I117544 117544443 117545489 0.86 [{'connected_gene': 'DCBLD1', 'score': 11.31}, {'connected_gene': 'ENSG00000226181', 'score': 11.31}, {'connected_gene': 'NUS1', 'score': 10.02}, {'connected_gene': 'GOPC', 'score': 8.23}, {'connected_gene': 'PIR41328', 'score': 0.39}, {'connected_gene': 'ENSG00000282218', 'score': 0.31}]
chr6 GH06I117591 117591498 117591647 0.49 [{'connected_gene': 'DCBLD1', 'score': 10.81}, {'connected_gene': 'ENSG00000226181', 'score': 10.81}, {'connected_gene': 'NUS1', 'score': 10.48}, {'connected_gene': 'GOPC', 'score': 0.39}, {'connected_gene': 'GC06M117575', 'score': 0.37}]
chr6 GH06I117615 117615340 117617912 1.03 [{'connected_gene': 'DCBLD1', 'score': 20.12}, {'connected_gene': 'NUS1', 'score': 10.89}, {'connected_gene': 'ENSG00000226181', 'score': 10.62}, {'connected_gene': 'RNU6-253P', 'score': 9.81}, {'connected_gene': 'GOPC', 'score': 9.02}, {'connected_gene': 'PIR51319', 'score': 0.77}, {'connected_gene': 'NEPNP', 'score': 0.39}]
chr6 GH06I117540 117540149 117541513 0.43 [{'connected_gene': 'DCBLD1', 'score': 22.34}, {'connected_gene': 'ENSG00000226181', 'score': 11.32}, {'connected_gene': 'NUS1', 'score': 10.02}, {'connected_gene': 'PIR41328', 'score': 0.39}, {'connected_gene': 'ENSG00000282218', 'score': 0.29}]
chr6 GH06I117545 117545796 117547013 0.2 [{'connected_gene': 'DCBLD1', 'score': 11.31}, {'connected_gene': 'ENSG00000226181', 'score': 11.31}, {'connected_gene': 'RNU6-253P', 'score': 10.54}, {'connected_gene': 'NUS1', 'score': 10.04}, {'connected_gene': 'GOPC', 'score': 8.48}, {'connected_gene': 'PIR41328', 'score': 0.37}, {'connected_gene': 'ENSG00000282218', 'score': 0.31}]
chr6 GH06I117510 117510586 117513837 0.54 [{'connected_gene': 'DCBLD1', 'score': 23.63}, {'connected_gene': 'ENSG00000226181', 'score': 11.26}, {'connected_gene': 'RNU6-253P', 'score': 11.0}, {'connected_gene': 'NUS1', 'score': 9.91}, {'connected_gene': 'PIR41328', 'score': 0.37}, {'connected_gene': 'ENSG00000282218', 'score': 0.21}]
chr6 GH06I117505 117505253 117507014 1.21 [{'connected_gene': 'DCBLD1', 'score': 23.04}, {'connected_gene': 'ENSG00000226181', 'score': 11.27}, {'connected_gene': 'RNU6-253P', 'score': 11.18}, {'connected_gene': 'NUS1', 'score': 9.74}, {'connected_gene': 'PIR41328', 'score': 0.34}, {'connected_gene': 'ENSG00000282218', 'score': 0.2}]
chr6 GH06I117534 117534975 117535765 0.56 [{'connected_gene': 'DCBLD1', 'score': 23.32}, {'connected_gene': 'ENSG00000226181', 'score': 11.21}, {'connected_gene': 'RNU6-253P', 'score': 10.87}, {'connected_gene': 'PIR41328', 'score': 0.77}, {'connected_gene': 'ENSG00000282218', 'score': 0.28}]
chr6 GH06I117486 117486766 117488748 0.43 [{'connected_gene': 'DCBLD1', 'score': 18.61}, {'connected_gene': 'RNU6-253P', 'score': 0.31}, {'connected_gene': 'PIR41328', 'score': 0.26}, {'connected_gene': 'ENSG00000282218', 'score': 0.17}]
chr6 GH06I117478 117478038 117479089 0.89 [{'connected_gene': 'DCBLD1', 'score': 23.35}, {'connected_gene': 'RNU6-253P', 'score': 0.34}, {'connected_gene': 'PIR41328', 'score': 0.23}, {'connected_gene': 'ENSG00000282218', 'score': 0.15}]
chr6 GH06I117490 117490389 117499469 1.4 [{'connected_gene': 'DCBLD1', 'score': 34.9}, {'connected_gene': 'RNU6-253P', 'score': 11.48}, {'connected_gene': 'ENSG00000226181', 'score': 11.35}, {'connected_gene': 'PIR41328', 'score': 0.28}, {'connected_gene': 'ENSG00000282218', 'score': 0.18}]
chr6 GH06I117520 117520203 117523260 0.43 [{'connected_gene': 'DCBLD1', 'score': 24.51}, {'connected_gene': 'ENSG00000226181', 'score': 11.11}, {'connected_gene': 'RNU6-253P', 'score': 10.65}, {'connected_gene': 'PIR41328', 'score': 0.44}, {'connected_gene': 'ENSG00000282218', 'score': 0.23}]
chr6 GH06I117501 117501552 117503199 0.72 [{'connected_gene': 'DCBLD1', 'score': 30.91}, {'connected_gene': 'ENSG00000226181', 'score': 11.23}, {'connected_gene': 'PIR41328', 'score': 0.31}, {'connected_gene': 'RNU6-253P', 'score': 0.26}, {'connected_gene': 'ENSG00000282218', 'score': 0.19}]
chr6 GH06I117451 117451801 117452000 0.69 [{'connected_gene': 'DCBLD1', 'score': 555.14}, {'connected_gene': 'ENSG00000226181', 'score': 550.77}, {'connected_gene': 'RAP1BP3', 'score': 0.34}, {'connected_gene': 'ENSG00000282218', 'score': 0.13}]
chr6 GH06I117607 117607401 117608000 0.38 [{'connected_gene': 'NUS1', 'score': 11.25}, {'connected_gene': 'DCBLD1', 'score': 11.03}, {'connected_gene': 'ENSG00000226181', 'score': 11.03}, {'connected_gene': 'NEPNP', 'score': 0.77}, {'connected_gene': 'PIR51319', 'score': 0.39}]
chr6 GH06I117614 117614298 117614367 0.38 [{'connected_gene': 'NUS1', 'score': 10.87}, {'connected_gene': 'DCBLD1', 'score': 10.62}, {'connected_gene': 'ENSG00000226181', 'score': 10.62}, {'connected_gene': 'RNU6-253P', 'score': 9.81}, {'connected_gene': 'PIR51319', 'score': 0.44}, {'connected_gene': 'NEPNP', 'score': 0.39}]
chr6 GH06I117300 117300118 117301317 0.43 [{'connected_gene': 'RN7SKP18', 'score': 550.77}, {'connected_gene': 'RN7SKP51', 'score': 550.77}, {'connected_gene': 'GOPC', 'score': 16.85}, {'connected_gene': 'KPNA5', 'score': 12.96}, {'connected_gene': 'VGLL2', 'score': 11.16}, {'connected_gene': 'DCBLD1', 'score': 4.65}, {'connected_gene': 'ROS1', 'score': 0.13}]
chr6 GH06I117480 117480758 117480907 0.31 [{'connected_gene': 'RNU6-253P', 'score': 0.34}, {'connected_gene': 'DCBLD1', 'score': 0.31}, {'connected_gene': 'PIR41328', 'score': 0.25}, {'connected_gene': 'ENSG00000282218', 'score': 0.16}]
chr6 GH06I117529 117529616 117532729 0.65 [{'connected_gene': 'PIR41328', 'score': 550.77}, {'connected_gene': 'DCBLD1', 'score': 11.21}, {'connected_gene': 'ENSG00000226181', 'score': 11.21}, {'connected_gene': 'RNU6-253P', 'score': 10.88}, {'connected_gene': 'NUS1', 'score': 9.6}, {'connected_gene': 'ENSG00000282218', 'score': 0.26}]

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