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
ENST00000483536 [[26912298, 26918169], [26941525, 26941597], [26949182, 26949349], [27018885, 27018987], [27064615, 27064759], [27066506, 27066725]] [[27018901, 27018987], [27064615, 27064759], [27066506, 27066642]]
ENST00000465357 [[26915093, 26918169], [26949182, 26949349], [27064615, 27064759], [27066506, 27066692]] [[26917164, 26918169], [26949182, 26949349], [27064615, 27064759], [27066506, 27066642]]
ENST00000539517 [[26915094, 26918169], [26941525, 26941597], [26949182, 26949349], [27064615, 27064759], [27066506, 27066960]] [[26917164, 26918169], [26941525, 26941597], [26949182, 26949349], [27064615, 27064759], [27066506, 27066642]]
ENST00000267422 [[26916769, 26918169], [26941525, 26941597], [26949182, 26949349], [27018885, 27018987], [27064615, 27064759], [27066506, 27066642]] [[26917164, 26918169], [26941525, 26941597], [26949182, 26949263]]
ENST00000449198 [[26917733, 26918169], [26941525, 26941597], [26949182, 26949349], [27064615, 27064759], [27065141, 27065281]] [[26917733, 26918169], [26941525, 26941597], [26949182, 26949349], [27064615, 27064759], [27065141, 27065154]]
ENST00000347476 [[26917923, 26918169], [26949182, 26949349], [27037625, 27037671], [27064615, 27064705]] [[26917923, 26918169], [26949182, 26949263]]
ENST00000546546 [[26917939, 26918169], [26949182, 26949349], [27018885, 27018987], [27064615, 27064679]] [[27018901, 27018987], [27064615, 27064679]]
ENST00000549146 [[26918033, 26918169], [26941525, 26941597], [26949182, 26949349], [27064615, 27064832]] [[26918033, 26918169], [26941525, 26941597], [26949182, 26949263]]
ENST00000549571 [[26918057, 26918169], [26941525, 26941597], [26949182, 26949349], [27064615, 27064759], [27065778, 27066288]] [[26918057, 26918169], [26941525, 26941597], [26949182, 26949349], [27064615, 27064759], [27065778, 27065803]]
ENST00000344429 [[26939323, 26939696], [26941525, 26941597], [26949182, 26949349], [27064615, 27064759], [27066506, 27066646]] [[26939669, 26939696], [26941525, 26941597], [26949182, 26949349], [27064615, 27064759], [27066506, 27066642]]
ENST00000547619 [[26941156, 26941597], [26949182, 26949349], [27064615, 27064759], [27066506, 27066701]] [[26941408, 26941597], [26949182, 26949349], [27064615, 27064759], [27066506, 27066642]]
ENST00000574031 [[26948222, 26949349], [27064615, 27064759], [27066506, 27066666]] [[26949170, 26949349], [27064615, 27064759], [27066506, 27066642]]
ENST00000551754 [[26988404, 26988760], [27057605, 27057685], [27064615, 27064667]] None
ENST00000547415 [[27018556, 27018987], [27064615, 27064684]] None
NM_002515 [[26915088, 26918169], [26941525, 26941597], [26949182, 26949349], [27064615, 27064759], [27066506, 27066960]] [[26917164, 26918169], [26941525, 26941597], [26949182, 26949349], [27064615, 27064759], [27066506, 27066642]]
NM_006489 [[26915088, 26918169], [26949182, 26949349], [27064615, 27064759], [27066506, 27066960]] [[26917164, 26918169], [26949182, 26949349], [27064615, 27064759], [27066506, 27066642]]
NM_006491 [[26939323, 26939696], [26941525, 26941597], [26949182, 26949349], [27064615, 27064759], [27066506, 27066960]] [[26939669, 26939696], [26941525, 26941597], [26949182, 26949349], [27064615, 27064759], [27066506, 27066642]]
Promoter
Chrom Start End Description
chr14 27066636 27066686 CAGE_peak_5_at_NOVA1_5end
chr14 27066787 27066798 CAGE_peak_16_at_NOVA1_5end
chr14 27066880 27066891 CAGE_peak_12_at_NOVA1_5end
chr14 27066907 27066914 CAGE_peak_18_at_NOVA1_5end
chr14 27066917 27066929 CAGE_peak_15_at_NOVA1_5end
chr14 27066944 27066949 CAGE_peak_17_at_NOVA1_5end
chr14 27066962 27066977 CAGE_peak_7_at_NOVA1_5end
chr14 27067008 27067015 CAGE_peak_14_at_NOVA1_5end
chr14 27067039 27067060 CAGE_peak_6_at_NOVA1_5end
chr14 27067061 27067072 CAGE_peak_10_at_NOVA1_5end
chr14 27067073 27067088 CAGE_peak_8_at_NOVA1_5end
chr14 27067104 27067115 CAGE_peak_9_at_NOVA1_5end
chr14 27067129 27067140 CAGE_peak_11_at_NOVA1_5end
chr14 27067231 27067247 CAGE_peak_1_at_NOVA1_5end
chr14 27067258 27067276 CAGE_peak_3_at_NOVA1_5end
chr14 27067287 27067306 CAGE_peak_4_at_NOVA1_5end
chr14 27067411 27067418 CAGE_peak_13_at_NOVA1_5end
chr14 27067428 27067485 CAGE_peak_2_at_NOVA1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I026415 26415741 26415911 0.22 [{'connected_gene': 'NOVA1', 'score': 2.2}, {'connected_gene': 'LOC105370418', 'score': 0.37}, {'connected_gene': 'ENSG00000262119', 'score': 0.1}]
chr14 GH14I026522 26522756 26523673 0.2 [{'connected_gene': 'NOVA1', 'score': 5.33}, {'connected_gene': 'ENSG00000262119', 'score': 0.19}, {'connected_gene': 'LOC105370418', 'score': 0.13}]
chr14 GH14I026528 26528895 26529044 0.2 [{'connected_gene': 'NOVA1', 'score': 0.2}, {'connected_gene': 'ENSG00000262119', 'score': 0.2}, {'connected_gene': 'LOC105370418', 'score': 0.12}]
chr14 GH14I026621 26621435 26621584 0.2 [{'connected_gene': 'NOVA1', 'score': 12.04}, {'connected_gene': 'NOVA1-AS1', 'score': 0.34}, {'connected_gene': 'LINC02293', 'score': 0.09}]
chr14 GH14I026622 26621602 26623213 0.31 [{'connected_gene': 'NOVA1', 'score': 12.04}, {'connected_gene': 'NOVA1-AS1', 'score': 0.34}, {'connected_gene': 'LINC02293', 'score': 0.09}]
chr14 GH14I026524 26524510 26527491 0.31 [{'connected_gene': 'NOVA1', 'score': 5.66}, {'connected_gene': 'LINC02293', 'score': 5.45}, {'connected_gene': 'ENSG00000262119', 'score': 0.2}, {'connected_gene': 'LOC105370418', 'score': 0.13}]
chr14 GH14I026448 26445884 26446167 0.4 [{'connected_gene': 'LOC105370418', 'score': 0.25}, {'connected_gene': 'ENSG00000262119', 'score': 0.11}, {'connected_gene': 'NOVA1', 'score': 0.1}]
chr14 GH14I026447 26446780 26447945 0.51 [{'connected_gene': 'LOC105370418', 'score': 0.23}, {'connected_gene': 'ENSG00000262119', 'score': 0.11}, {'connected_gene': 'NOVA1', 'score': 0.1}]
chr14 GH14I026444 26444298 26444652 0.58 [{'connected_gene': 'LOC105370418', 'score': 0.25}, {'connected_gene': 'NOVA1', 'score': 0.1}, {'connected_gene': 'ENSG00000262119', 'score': 0.1}]
chr14 GH14I026445 26444878 26445201 0.58 [{'connected_gene': 'LOC105370418', 'score': 0.25}, {'connected_gene': 'ENSG00000262119', 'score': 0.11}, {'connected_gene': 'NOVA1', 'score': 0.1}]
chr14 GH14I026446 26446172 26446777 0.51 [{'connected_gene': 'LOC105370418', 'score': 0.25}, {'connected_gene': 'ENSG00000262119', 'score': 0.11}, {'connected_gene': 'NOVA1', 'score': 0.1}]
chr14 GH14I026595 26595907 26599201 1.84 [{'connected_gene': 'NOVA1-AS1', 'score': 550.77}, {'connected_gene': 'NOVA1', 'score': 550.77}, {'connected_gene': 'ENSG00000262119', 'score': 0.77}]
chr14 GH14I026499 26499295 26500318 0.2 [{'connected_gene': 'ENSG00000262119', 'score': 0.16}, {'connected_gene': 'NOVA1', 'score': 0.15}, {'connected_gene': 'LOC105370418', 'score': 0.15}]

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