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
ENST00000423529 [[54926392, 54926468], [54926780, 54926852], [54930301, 54930480], [54932450, 54932562], [54933363, 54933429]] [[54926426, 54926468], [54926780, 54926852], [54930301, 54930480], [54932450, 54932562], [54933363, 54933429]]
ENST00000301194 [[54926604, 54926852], [54930301, 54930480], [54932450, 54932562], [54933363, 54933584], [54937849, 54937945], [54940484, 54940557], [54941059, 54941135], [54941727, 54941783], [54941990, 54942083], [54942276, 54942369], [54946721, 54946864], [54947007, 54947053], [54947267, 54947351], [54947512, 54948080]] [[54926726, 54926852], [54930301, 54930480], [54932450, 54932562], [54933363, 54933584], [54937849, 54937945], [54940484, 54940557], [54941059, 54941135], [54941727, 54941783], [54941990, 54942083], [54942276, 54942369], [54946721, 54946864], [54947007, 54947053], [54947267, 54947309]]
ENST00000376530 [[54926623, 54926852], [54930301, 54930480], [54932450, 54932562], [54933363, 54933584], [54937849, 54937945], [54940484, 54940557], [54941059, 54941135], [54941727, 54941783], [54941990, 54942083], [54942276, 54942369], [54946721, 54946864], [54947007, 54947053], [54947270, 54947351], [54947512, 54947899]] [[54926726, 54926852], [54930301, 54930480], [54932450, 54932562], [54933363, 54933584], [54937849, 54937945], [54940484, 54940557], [54941059, 54941135], [54941727, 54941783], [54941990, 54942083], [54942276, 54942369], [54946721, 54946864], [54947007, 54947053], [54947270, 54947309]]
ENST00000445095 [[54926638, 54926852], [54927229, 54927240], [54927962, 54928098], [54930301, 54930480], [54932450, 54932562], [54933363, 54933584], [54937849, 54937905]] [[54926726, 54926852], [54927229, 54927240], [54927962, 54928098], [54930301, 54930480], [54932450, 54932562], [54933363, 54933584], [54937849, 54937905]]
ENST00000391739 [[54926664, 54926852], [54927229, 54927240], [54927962, 54928098], [54930301, 54930480], [54932450, 54932562], [54933363, 54933584], [54937849, 54937945], [54940484, 54940557], [54941059, 54941135], [54941990, 54942083], [54942276, 54942369], [54946721, 54946864], [54947007, 54947053], [54947267, 54947338]] [[54926726, 54926852], [54927229, 54927240], [54927962, 54928098], [54930301, 54930480], [54932450, 54932562], [54933363, 54933584], [54937849, 54937945], [54940484, 54940557], [54941059, 54941135], [54941990, 54942083], [54942276, 54942369], [54946721, 54946864], [54947007, 54947010]]
ENST00000425969 [[54926683, 54926852], [54930301, 54930480], [54933363, 54933584], [54937849, 54937945]] [[54926726, 54926852], [54930301, 54930480], [54933363, 54933400]]
ENST00000487134 [[54926685, 54926852], [54927229, 54928098], [54930301, 54930480], [54932450, 54932562], [54933363, 54933584], [54937849, 54937945], [54940484, 54940557], [54941059, 54941135], [54941727, 54941783], [54941990, 54942083], [54942276, 54942369], [54946721, 54946864], [54947007, 54947053], [54947270, 54947351], [54947512, 54947899]] None
ENST00000376531 [[54926699, 54926852], [54930301, 54930480], [54932450, 54932562], [54933363, 54933584], [54937849, 54937945], [54940484, 54940557], [54941059, 54941135], [54941727, 54941783], [54941990, 54942083], [54942276, 54942369], [54946721, 54946864], [54947270, 54947351], [54947512, 54947899]] [[54926726, 54926852], [54930301, 54930480], [54932450, 54932562], [54933363, 54933584], [54937849, 54937945], [54940484, 54940557], [54941059, 54941135], [54941727, 54941783], [54941990, 54942083], [54942276, 54942369], [54946721, 54946864], [54947270, 54947351], [54947512, 54947546]]
ENST00000462757 [[54927013, 54927185], [54930301, 54930476], [54932450, 54932562], [54933363, 54933422]] None
ENST00000462769 [[54929435, 54929886], [54930301, 54930480], [54930624, 54930710]] None
ENST00000478036 [[54929562, 54929886], [54930301, 54930476], [54932450, 54932517]] None
ENST00000472198 [[54930369, 54930716], [54932450, 54932562], [54933372, 54933584], [54937849, 54937945], [54940484, 54940557], [54941059, 54941135], [54941727, 54941783], [54941990, 54942083], [54942276, 54944890]] [[54930369, 54930484]]
ENST00000461302 [[54931841, 54932006], [54932450, 54932562], [54933363, 54933584], [54937849, 54937910]] None
ENST00000476757 [[54931872, 54931975], [54932450, 54932562], [54933363, 54933584], [54937849, 54937945], [54940484, 54940531]] None
ENST00000489425 [[54937650, 54937743], [54937849, 54937945], [54940484, 54940557], [54941059, 54941135], [54941727, 54941783], [54941990, 54942083], [54942276, 54942369], [54946721, 54946864], [54947007, 54947053], [54947267, 54947351], [54947512, 54947899]] None
ENST00000492920 [[54941990, 54942083], [54942276, 54942369], [54946721, 54946864], [54947007, 54947053], [54947270, 54947652]] None
ENST00000476863 [[54946139, 54946293], [54946721, 54946864], [54947007, 54947053], [54947270, 54947508]] None
ENST00000467939 [[54947184, 54947351], [54947512, 54947897]] None
NM_001005367 [[54926604, 54926852], [54930301, 54930480], [54932450, 54932562], [54933363, 54933584], [54937849, 54937945], [54940484, 54940557], [54941059, 54941135], [54941727, 54941783], [54941990, 54942083], [54942276, 54942369], [54946721, 54946864], [54947270, 54947351], [54947512, 54947899]] [[54926726, 54926852], [54930301, 54930480], [54932450, 54932562], [54933363, 54933584], [54937849, 54937945], [54940484, 54940557], [54941059, 54941135], [54941727, 54941783], [54941990, 54942083], [54942276, 54942369], [54946721, 54946864], [54947270, 54947351], [54947512, 54947546]]
NM_020659 [[54926604, 54926852], [54930301, 54930480], [54932450, 54932562], [54933363, 54933584], [54937849, 54937945], [54940484, 54940557], [54941059, 54941135], [54941727, 54941783], [54941990, 54942083], [54942276, 54942369], [54946721, 54946864], [54947007, 54947053], [54947270, 54947351], [54947512, 54947899]] [[54926726, 54926852], [54930301, 54930480], [54932450, 54932562], [54933363, 54933584], [54937849, 54937945], [54940484, 54940557], [54941059, 54941135], [54941727, 54941783], [54941990, 54942083], [54942276, 54942369], [54946721, 54946864], [54947007, 54947053], [54947270, 54947309]]
NM_001201461 [[54926604, 54926852], [54930301, 54930480], [54932450, 54932562], [54933363, 54933584], [54937849, 54937945], [54940484, 54940557], [54941059, 54941135], [54941727, 54941783], [54941990, 54942083], [54942276, 54942369], [54946721, 54946864], [54947007, 54947053], [54947267, 54947351], [54947512, 54947899]] [[54926726, 54926852], [54930301, 54930480], [54932450, 54932562], [54933363, 54933584], [54937849, 54937945], [54940484, 54940557], [54941059, 54941135], [54941727, 54941783], [54941990, 54942083], [54942276, 54942369], [54946721, 54946864], [54947007, 54947053], [54947267, 54947309]]
Promoter
Chrom Start End Description
chr19 54926601 54926619 CAGE_peak_2_at_TTYH1_5end
chr19 54926621 54926675 CAGE_peak_1_at_TTYH1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I054459 54459659 54474387 2.73 [{'connected_gene': 'LENG9', 'score': 564.79}, {'connected_gene': 'CDC42EP5', 'score': 561.21}, {'connected_gene': 'LENG8-AS1', 'score': 25.84}, {'connected_gene': 'LENG8', 'score': 17.55}, {'connected_gene': 'ENSG00000267838', 'score': 17.43}, {'connected_gene': 'ENSG00000235681', 'score': 17.13}, {'connected_gene': 'CNOT3', 'score': 15.69}, {'connected_gene': 'TPM3P6', 'score': 13.26}, {'connected_gene': 'TTYH1', 'score': 11.29}, {'connected_gene': 'PRPF31', 'score': 11.01}, {'connected_gene': 'ENSG00000237017', 'score': 10.01}, {'connected_gene': 'RPS9', 'score': 9.83}, {'connected_gene': 'LILRB4', 'score': 4.91}, {'connected_gene': 'NLRP2', 'score': 4.88}, {'connected_gene': 'GC19P054461', 'score': 0.44}]
chr19 GH19I055381 55381275 55382388 0.6 [{'connected_gene': 'FIZ1', 'score': 18.78}, {'connected_gene': 'ZNF542P', 'score': 14.19}, {'connected_gene': 'LOC729999', 'score': 11.81}, {'connected_gene': 'SHISA7', 'score': 11.34}, {'connected_gene': 'NAT14', 'score': 10.59}, {'connected_gene': 'ZNF444', 'score': 9.73}, {'connected_gene': 'TTYH1', 'score': 9.66}, {'connected_gene': 'ENSG00000269275', 'score': 0.77}, {'connected_gene': 'TMEM238', 'score': 0.77}]
chr19 GH19I055212 55212265 55212974 0.88 [{'connected_gene': 'SHISA7', 'score': 11.2}, {'connected_gene': 'TTYH1', 'score': 9.66}, {'connected_gene': 'PTPRH', 'score': 0.77}, {'connected_gene': 'ENSG00000267649', 'score': 0.77}]
chr19 GH19I054325 54325209 54325378 0.64 [{'connected_gene': 'TTYH1', 'score': 12.53}, {'connected_gene': 'VN1R104P', 'score': 0.77}, {'connected_gene': 'ENSG00000250507', 'score': 0.44}, {'connected_gene': 'ENSG00000275210', 'score': 0.39}]
chr19 GH19I054405 54405354 54405679 0.22 [{'connected_gene': 'TTYH1', 'score': 0.44}, {'connected_gene': 'ENSG00000237955', 'score': 0.31}]
chr19 GH19I054409 54409853 54411047 0.31 [{'connected_gene': 'TTYH1', 'score': 0.77}, {'connected_gene': 'ENSG00000237955', 'score': 0.29}]
chr19 GH19I054415 54415419 54415478 0.99 [{'connected_gene': 'TTYH1', 'score': 550.77}, {'connected_gene': 'ENSG00000268496', 'score': 0.37}]
chr19 GH19I054311 54311601 54313600 1.01 [{'connected_gene': 'LILRA5', 'score': 550.77}, {'connected_gene': 'TTYH1', 'score': 12.11}, {'connected_gene': 'ENSG00000227407', 'score': 12.09}, {'connected_gene': 'LILRB2', 'score': 12.01}, {'connected_gene': 'LILRB5', 'score': 11.96}, {'connected_gene': 'LILRA6', 'score': 11.95}, {'connected_gene': 'ENSG00000249189', 'score': 11.95}, {'connected_gene': 'LILRB3', 'score': 11.91}, {'connected_gene': 'ENSG00000234436', 'score': 0.44}, {'connected_gene': 'ENSG00000275210', 'score': 0.34}]
chr19 GH19I054383 54383372 54383635 0.78 [{'connected_gene': 'FCAR', 'score': 20.67}, {'connected_gene': 'LAIR1', 'score': 15.37}, {'connected_gene': 'LILRB2', 'score': 7.37}, {'connected_gene': 'OSCAR', 'score': 7.26}, {'connected_gene': 'LILRB3', 'score': 6.22}, {'connected_gene': 'LILRA5', 'score': 5.7}, {'connected_gene': 'VSTM1', 'score': 4.79}, {'connected_gene': 'LILRB4', 'score': 4.06}, {'connected_gene': 'LILRB1', 'score': 3.01}, {'connected_gene': 'LILRA2', 'score': 2.62}, {'connected_gene': 'LILRA1', 'score': 2.11}, {'connected_gene': 'LAIR2', 'score': 2.1}, {'connected_gene': 'LENG8', 'score': 1.4}, {'connected_gene': 'TARM1', 'score': 1.15}, {'connected_gene': 'ENSG00000237955', 'score': 0.77}, {'connected_gene': 'TTYH1', 'score': 0.29}]
chr19 GH19I054417 54417808 54422296 1.25 [{'connected_gene': 'LENG8', 'score': 12.14}, {'connected_gene': 'LENG8-AS1', 'score': 12.14}, {'connected_gene': 'TSEN34', 'score': 6.4}, {'connected_gene': 'TTYH1', 'score': 0.77}, {'connected_gene': 'ENSG00000268496', 'score': 0.39}]
chr19 GH19I054422 54422307 54422476 0.51 [{'connected_gene': 'LENG8', 'score': 12.02}, {'connected_gene': 'LENG8-AS1', 'score': 12.02}, {'connected_gene': 'TTYH1', 'score': 0.44}, {'connected_gene': 'ENSG00000268496', 'score': 0.39}]
chr19 GH19I054285 54285601 54286000 0.4 [{'connected_gene': 'LILRB5', 'score': 12.05}, {'connected_gene': 'ENSG00000249189', 'score': 12.02}, {'connected_gene': 'LILRA6', 'score': 12.0}, {'connected_gene': 'LILRB3', 'score': 11.95}, {'connected_gene': 'TTYH1', 'score': 11.29}, {'connected_gene': 'MIR4752', 'score': 0.77}, {'connected_gene': 'ENSG00000240197', 'score': 0.44}]
chr19 GH19I054423 54423181 54425239 0.38 [{'connected_gene': 'LENG8-AS1', 'score': 21.43}, {'connected_gene': 'ENSG00000267838', 'score': 12.69}, {'connected_gene': 'LENG8', 'score': 12.05}, {'connected_gene': 'TTYH1', 'score': 0.44}, {'connected_gene': 'ENSG00000268496', 'score': 0.44}]
chr19 GH19I054318 54318601 54319600 1.1 [{'connected_gene': 'LILRB2', 'score': 18.86}, {'connected_gene': 'LILRB3', 'score': 16.56}, {'connected_gene': 'LAIR1', 'score': 16.41}, {'connected_gene': 'LILRA6', 'score': 13.4}, {'connected_gene': 'TTYH1', 'score': 12.11}, {'connected_gene': 'ENSG00000227407', 'score': 12.09}, {'connected_gene': 'LILRB5', 'score': 11.95}, {'connected_gene': 'ENSG00000249189', 'score': 11.93}, {'connected_gene': 'CNOT3', 'score': 11.2}, {'connected_gene': 'ENSG00000237017', 'score': 11.2}, {'connected_gene': 'PRPF31', 'score': 11.19}, {'connected_gene': 'TMC4', 'score': 11.18}, {'connected_gene': 'MYADM', 'score': 9.28}, {'connected_gene': 'OSCAR', 'score': 8.8}, {'connected_gene': 'LILRA5', 'score': 6.2}, {'connected_gene': 'VSTM1', 'score': 5.48}, {'connected_gene': 'LILRB4', 'score': 3.94}, {'connected_gene': 'LILRB1', 'score': 3.69}, {'connected_gene': 'LILRA2', 'score': 3.57}, {'connected_gene': 'LILRA1', 'score': 2.9}, {'connected_gene': 'LAIR2', 'score': 2.4}, {'connected_gene': 'LENG8', 'score': 1.71}, {'connected_gene': 'KIR3DL3', 'score': 1.16}, {'connected_gene': 'VN1R104P', 'score': 0.77}, {'connected_gene': 'ENSG00000275210', 'score': 0.37}]
chr19 GH19I054316 54316555 54318029 0.77 [{'connected_gene': 'LILRB2', 'score': 16.85}, {'connected_gene': 'TTYH1', 'score': 12.11}, {'connected_gene': 'ENSG00000227407', 'score': 12.09}, {'connected_gene': 'LILRB5', 'score': 11.96}, {'connected_gene': 'ENSG00000249189', 'score': 11.95}, {'connected_gene': 'LILRA6', 'score': 11.93}, {'connected_gene': 'LILRB3', 'score': 11.9}, {'connected_gene': 'VN1R104P', 'score': 0.77}, {'connected_gene': 'LILRA5', 'score': 0.77}, {'connected_gene': 'ENSG00000275210', 'score': 0.37}]
chr19 GH19I054279 54279401 54282000 1.1 [{'connected_gene': 'LILRB2', 'score': 556.39}, {'connected_gene': 'MIR4752', 'score': 550.77}, {'connected_gene': 'TTYH1', 'score': 5.08}, {'connected_gene': 'LOC100420187', 'score': 0.39}]
chr19 GH19I054351 54351162 54352752 0.86 [{'connected_gene': 'GC19M054352', 'score': 550.77}, {'connected_gene': 'TTYH1', 'score': 12.22}, {'connected_gene': 'ENSG00000227407', 'score': 11.95}, {'connected_gene': 'TMC4', 'score': 11.59}, {'connected_gene': 'LILRA4', 'score': 0.39}, {'connected_gene': 'LAIR1', 'score': 0.37}]
chr19 GH19I054384 54384888 54386014 0.2 [{'connected_gene': 'ENSG00000237955', 'score': 0.44}, {'connected_gene': 'TTYH1', 'score': 0.31}]
chr19 GH19I054392 54391937 54392046 0.46 [{'connected_gene': 'ENSG00000237955', 'score': 0.39}, {'connected_gene': 'TTYH1', 'score': 0.34}]
chr19 GH19I054433 54433825 54435022 0.54 [{'connected_gene': 'ENSG00000268496', 'score': 550.77}, {'connected_gene': 'ENSG00000227407', 'score': 550.77}, {'connected_gene': 'ENSG00000267838', 'score': 7.99}, {'connected_gene': 'TTYH1', 'score': 0.37}]
chr19 GH19I054393 54391077 54391246 0.82 [{'connected_gene': 'ENSG00000237955', 'score': 0.39}, {'connected_gene': 'TTYH1', 'score': 0.34}]
chr19 GH19I054429 54429893 54432432 1.21 [{'connected_gene': 'ENSG00000267838', 'score': 30.23}, {'connected_gene': 'ENSG00000268496', 'score': 0.77}, {'connected_gene': 'ENSG00000227407', 'score': 0.77}, {'connected_gene': 'TTYH1', 'score': 0.37}]
chr19 GH19I054426 54425423 54425688 0.64 [{'connected_gene': 'ENSG00000268496', 'score': 0.44}, {'connected_gene': 'TTYH1', 'score': 0.39}]
chr19 GH19I054428 54428976 54429863 0.31 [{'connected_gene': 'ENSG00000267838', 'score': 15.25}, {'connected_gene': 'ENSG00000268496', 'score': 0.77}, {'connected_gene': 'TTYH1', 'score': 0.39}]
chr19 GH19I054391 54391657 54391806 0.58 [{'connected_gene': 'ENSG00000237955', 'score': 0.39}, {'connected_gene': 'TTYH1', 'score': 0.34}]
chr19 GH19I054437 54437997 54439465 0.6 [{'connected_gene': 'ENSG00000267838', 'score': 583.41}, {'connected_gene': 'ENSG00000269873', 'score': 556.83}, {'connected_gene': 'TTYH1', 'score': 11.75}, {'connected_gene': 'GC19M054437', 'score': 0.39}]
chr19 GH19I054435 54435391 54436985 0.58 [{'connected_gene': 'ENSG00000227407', 'score': 550.77}, {'connected_gene': 'ENSG00000267838', 'score': 31.8}, {'connected_gene': 'ENSG00000269873', 'score': 0.77}, {'connected_gene': 'TTYH1', 'score': 0.34}]
chr19 GH19I054387 54387381 54390200 1.38 [{'connected_gene': 'ENSG00000267838', 'score': 12.52}, {'connected_gene': 'LAIR1', 'score': 9.89}, {'connected_gene': 'FCAR', 'score': 7.03}, {'connected_gene': 'LILRB2', 'score': 5.94}, {'connected_gene': 'LILRA5', 'score': 5.85}, {'connected_gene': 'VSTM1', 'score': 5.19}, {'connected_gene': 'OSCAR', 'score': 3.18}, {'connected_gene': 'LILRB1', 'score': 3.14}, {'connected_gene': 'LILRA1', 'score': 3.07}, {'connected_gene': 'LILRB3', 'score': 2.49}, {'connected_gene': 'LILRA2', 'score': 2.48}, {'connected_gene': 'LENG8', 'score': 2.15}, {'connected_gene': 'LILRB4', 'score': 1.98}, {'connected_gene': 'LAIR2', 'score': 1.27}, {'connected_gene': 'ENSG00000237955', 'score': 0.44}, {'connected_gene': 'TTYH1', 'score': 0.31}]
chr19 GH19I054425 54425889 54427026 0.57 [{'connected_gene': 'ENSG00000267838', 'score': 13.32}, {'connected_gene': 'LENG8-AS1', 'score': 6.62}, {'connected_gene': 'ENSG00000268496', 'score': 0.44}, {'connected_gene': 'TTYH1', 'score': 0.39}]

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