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
ENST00000231751 [[46477135, 46477720], [46479430, 46479620], [46480786, 46480971], [46482906, 46482974], [46484931, 46485073], [46486771, 46486927], [46487930, 46487984], [46488798, 46488889], [46490353, 46490508], [46491343, 46491518], [46491984, 46492163], [46495794, 46495850], [46496784, 46496932], [46497285, 46497468], [46497779, 46497888], [46501145, 46501309], [46506314, 46506653]] [[46477685, 46477720], [46479430, 46479620], [46480786, 46480971], [46482906, 46482974], [46484931, 46485073], [46486771, 46486927], [46487930, 46487984], [46488798, 46488889], [46490353, 46490508], [46491343, 46491518], [46491984, 46492163], [46495794, 46495850], [46496784, 46496932], [46497285, 46497468], [46497779, 46497888], [46501145, 46501309], [46506314, 46506357]]
ENST00000426532 [[46477509, 46477720], [46479430, 46479620], [46480786, 46480971], [46482906, 46482974], [46484931, 46485073], [46486771, 46486927], [46487930, 46487984], [46488798, 46488889], [46490353, 46490508], [46491343, 46491518], [46491984, 46492163], [46495794, 46495850], [46496784, 46496932], [46497285, 46497468], [46497779, 46497888], [46501145, 46501309], [46504933, 46505161]] [[46477685, 46477720], [46479430, 46479620], [46480786, 46480971], [46482906, 46482974], [46484931, 46485073], [46486771, 46486927], [46487930, 46487984], [46488798, 46488889], [46490353, 46490508], [46491343, 46491518], [46491984, 46492163], [46495794, 46495850], [46496784, 46496932], [46497285, 46497468], [46497779, 46497888], [46501145, 46501220]]
ENST00000417439 [[46477683, 46477720], [46479430, 46479620], [46480786, 46480971], [46482906, 46482974], [46484931, 46485073], [46486771, 46486927], [46487930, 46487984], [46488798, 46488889], [46490359, 46490508], [46491343, 46491518], [46491984, 46492163], [46495794, 46495850], [46496784, 46496932], [46497285, 46497468], [46497779, 46497888], [46501145, 46501309], [46506314, 46506358]] [[46477685, 46477720], [46479430, 46479620], [46480786, 46480971], [46482906, 46482974], [46484931, 46485073], [46486771, 46486927], [46487930, 46487984], [46488798, 46488889], [46490359, 46490508], [46491343, 46491518], [46491984, 46492163], [46495794, 46495850], [46496784, 46496932], [46497285, 46497468], [46497779, 46497888], [46501145, 46501309]]
ENST00000443496 [[46477691, 46477720], [46479430, 46479620], [46480786, 46480971], [46482906, 46482974], [46484931, 46485073], [46486771, 46486927], [46487930, 46487984], [46488798, 46488889], [46490353, 46490508], [46491343, 46491518], [46491984, 46492163], [46495794, 46495850], [46496784, 46496932], [46497285, 46497468], [46497779, 46497888], [46501145, 46501309], [46509741, 46509809], [46510936, 46511085], [46511850, 46511956], [46526475, 46526724]] [[46477691, 46477720], [46479430, 46479620], [46480786, 46480971], [46482906, 46482974], [46484931, 46485073], [46486771, 46486927], [46487930, 46487984], [46488798, 46488889], [46490353, 46490508], [46491343, 46491518], [46491984, 46492163], [46495794, 46495850], [46496784, 46496932], [46497285, 46497468], [46497779, 46497888], [46501145, 46501309], [46509741, 46509745]]
ENST00000493056 [[46479524, 46479620], [46480786, 46480971], [46482906, 46482974], [46483252, 46483396]] None
ENST00000478874 [[46479585, 46479620], [46480786, 46480971], [46482906, 46482974], [46504956, 46505134]] None
ENST00000462667 [[46495503, 46495850], [46496784, 46496932], [46497285, 46497313]] None
ENST00000431944 [[46496918, 46496932], [46497285, 46497468], [46497779, 46497888], [46501145, 46501309], [46502054, 46502087], [46506314, 46506395]] [[46496918, 46496932], [46497285, 46497468], [46497779, 46497888], [46501145, 46501309], [46502054, 46502087], [46506314, 46506357]]
ENST00000415180 [[46497285, 46497468], [46497779, 46497888], [46501145, 46501309], [46504933, 46505161]] [[46497285, 46497468], [46497779, 46497888], [46501145, 46501220]]
ENST00000498301 [[46501146, 46501309], [46509741, 46509809], [46526475, 46526713]] None
NM_001199149 [[46477495, 46477720], [46479430, 46479620], [46480786, 46480971], [46482906, 46482974], [46484931, 46485073], [46486771, 46486927], [46487930, 46487984], [46488798, 46488889], [46490353, 46490508], [46491343, 46491518], [46491984, 46492163], [46495794, 46495850], [46496784, 46496932], [46497285, 46497468], [46497779, 46497888], [46501145, 46501309], [46504933, 46505161]] [[46477685, 46477720], [46479430, 46479620], [46480786, 46480971], [46482906, 46482974], [46484931, 46485073], [46486771, 46486927], [46487930, 46487984], [46488798, 46488889], [46490353, 46490508], [46491343, 46491518], [46491984, 46492163], [46495794, 46495850], [46496784, 46496932], [46497285, 46497468], [46497779, 46497888], [46501145, 46501220]]
NM_002343 [[46477495, 46477720], [46479430, 46479620], [46480786, 46480971], [46482906, 46482974], [46484931, 46485073], [46486771, 46486927], [46487930, 46487984], [46488798, 46488889], [46490353, 46490508], [46491343, 46491518], [46491984, 46492163], [46495794, 46495850], [46496784, 46496932], [46497285, 46497468], [46497779, 46497888], [46501145, 46501309], [46506314, 46506653]] [[46477685, 46477720], [46479430, 46479620], [46480786, 46480971], [46482906, 46482974], [46484931, 46485073], [46486771, 46486927], [46487930, 46487984], [46488798, 46488889], [46490353, 46490508], [46491343, 46491518], [46491984, 46492163], [46495794, 46495850], [46496784, 46496932], [46497285, 46497468], [46497779, 46497888], [46501145, 46501309], [46506314, 46506357]]
NM_001321121 [[46477495, 46477720], [46479430, 46479620], [46480786, 46480971], [46482906, 46482974], [46484931, 46485073], [46486771, 46486927], [46487930, 46487984], [46488798, 46488889], [46490359, 46490508], [46491343, 46491518], [46491984, 46492163], [46495794, 46495850], [46496784, 46496932], [46497285, 46497468], [46497779, 46497888], [46501145, 46501309], [46506314, 46506653]] [[46477685, 46477720], [46479430, 46479620], [46480786, 46480971], [46482906, 46482974], [46484931, 46485073], [46486771, 46486927], [46487930, 46487984], [46488798, 46488889], [46490359, 46490508], [46491343, 46491518], [46491984, 46492163], [46495794, 46495850], [46496784, 46496932], [46497285, 46497468], [46497779, 46497888], [46501145, 46501309], [46506314, 46506357]]
NM_001321122 [[46477495, 46477720], [46479430, 46479620], [46480786, 46480971], [46482906, 46482974], [46484931, 46485073], [46486771, 46486927], [46487930, 46487984], [46488798, 46488889], [46490353, 46490508], [46491343, 46491518], [46491984, 46492163], [46495794, 46495850], [46496784, 46496932], [46497285, 46497468], [46497779, 46497888], [46501145, 46501309], [46509741, 46509809], [46510936, 46511085], [46511850, 46511956], [46526475, 46526724]] [[46477685, 46477720], [46479430, 46479620], [46480786, 46480971], [46482906, 46482974], [46484931, 46485073], [46486771, 46486927], [46487930, 46487984], [46488798, 46488889], [46490353, 46490508], [46491343, 46491518], [46491984, 46492163], [46495794, 46495850], [46496784, 46496932], [46497285, 46497468], [46497779, 46497888], [46501145, 46501309], [46509741, 46509745]]
Promoter
Chrom Start End Description
chr3 46505091 46505110 CAGE_peak_5_at_LTF_5end
chr3 46505111 46505126 CAGE_peak_3_at_LTF_5end
chr3 46505137 46505149 CAGE_peak_4_at_LTF_5end
chr3 46506387 46506404 CAGE_peak_1_at_LTF_5end
chr3 46506563 46506572 CAGE_peak_2_at_LTF_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I046556 46556108 46559899 1.65 [{'connected_gene': 'LRRC2-AS1', 'score': 578.1}, {'connected_gene': 'LRRC2', 'score': 60.78}, {'connected_gene': 'RTP3', 'score': 12.21}, {'connected_gene': 'LTF', 'score': 12.13}, {'connected_gene': 'SETD2', 'score': 11.87}, {'connected_gene': 'PTPN23', 'score': 10.93}, {'connected_gene': 'CCR2', 'score': 9.25}, {'connected_gene': 'TDGF1', 'score': 5.62}]
chr3 GH03I046495 46495681 46497334 0.9 [{'connected_gene': 'RTP3', 'score': 550.77}, {'connected_gene': 'LTF', 'score': 7.47}, {'connected_gene': 'LRRC2-AS1', 'score': 6.6}]
chr3 GH03I046564 46564610 46567409 2.06 [{'connected_gene': 'LRRC2', 'score': 594.83}, {'connected_gene': 'LTF', 'score': 11.5}, {'connected_gene': 'RTP3', 'score': 11.37}, {'connected_gene': 'PRSS50', 'score': 7.61}, {'connected_gene': 'PRSS46P', 'score': 7.44}, {'connected_gene': 'CCRL2', 'score': 5.43}, {'connected_gene': 'SCAP', 'score': 4.08}, {'connected_gene': 'LRRC2-AS1', 'score': 0.44}, {'connected_gene': 'TDGF1', 'score': 0.44}]
chr3 GH03I046375 46375201 46376186 0.6 [{'connected_gene': 'CCR2', 'score': 11.24}, {'connected_gene': 'CCR1', 'score': 11.07}, {'connected_gene': 'LOC102724297', 'score': 5.17}, {'connected_gene': 'LTF', 'score': 4.57}, {'connected_gene': 'GC03P046375', 'score': 0.77}, {'connected_gene': 'CCR5', 'score': 0.44}]
chr3 GH03I046549 46549021 46550368 1.42 [{'connected_gene': 'TDGF1', 'score': 15.54}, {'connected_gene': 'RTP3', 'score': 12.18}, {'connected_gene': 'LTF', 'score': 11.71}, {'connected_gene': 'LRRC2-AS1', 'score': 5.45}, {'connected_gene': 'CCR2', 'score': 1.99}, {'connected_gene': 'LRRC2', 'score': 0.29}, {'connected_gene': 'LOC105377070', 'score': 0.29}]
chr3 GH03I046584 46584730 46587303 0.85 [{'connected_gene': 'TDGF1', 'score': 48.28}, {'connected_gene': 'RTP3', 'score': 10.61}, {'connected_gene': 'LTF', 'score': 10.58}, {'connected_gene': 'ALS2CL', 'score': 10.41}, {'connected_gene': 'PRSS46P', 'score': 5.62}, {'connected_gene': 'LRRC2', 'score': 5.54}, {'connected_gene': 'ENSG00000283877', 'score': 0.77}, {'connected_gene': 'PIR44476', 'score': 0.31}]
chr3 GH03I046502 46502636 46504150 0.83 [{'connected_gene': 'TDGF1', 'score': 10.49}, {'connected_gene': 'PTH1R', 'score': 9.7}, {'connected_gene': 'MYL3', 'score': 9.69}, {'connected_gene': 'LTF', 'score': 7.83}, {'connected_gene': 'RTP3', 'score': 0.44}, {'connected_gene': 'LOC105377070', 'score': 0.39}]
chr3 GH03I046505 46505802 46506133 0.23 [{'connected_gene': 'LTF', 'score': 19.36}, {'connected_gene': 'TDGF1', 'score': 10.42}, {'connected_gene': 'PTH1R', 'score': 9.7}, {'connected_gene': 'MYL3', 'score': 9.69}, {'connected_gene': 'TMIE', 'score': 1.98}, {'connected_gene': 'LOC105377070', 'score': 0.44}, {'connected_gene': 'RTP3', 'score': 0.44}]
chr3 GH03I046483 46483942 46486632 0.63 [{'connected_gene': 'LTF', 'score': 558.1}, {'connected_gene': 'KIF9', 'score': 4.43}, {'connected_gene': 'CCRL2', 'score': 4.37}, {'connected_gene': 'RTP3', 'score': 0.39}]
chr3 GH03I046491 46491251 46491420 0.65 [{'connected_gene': 'SETD2', 'score': 10.76}, {'connected_gene': 'LTF', 'score': 0.44}, {'connected_gene': 'RTP3', 'score': 0.44}]
chr3 GH03I046515 46515810 46518233 0.89 [{'connected_gene': 'SETD2', 'score': 16.94}, {'connected_gene': 'BOLA2P2', 'score': 13.1}, {'connected_gene': 'SCAP', 'score': 12.34}, {'connected_gene': 'CCDC12', 'score': 12.26}, {'connected_gene': 'PTPN23', 'score': 12.03}, {'connected_gene': 'LTF', 'score': 11.57}, {'connected_gene': 'TDGF1', 'score': 10.97}, {'connected_gene': 'RN7SL145P', 'score': 10.04}, {'connected_gene': 'LOC105377070', 'score': 0.77}, {'connected_gene': 'LRRC2-AS1', 'score': 0.26}, {'connected_gene': 'LRRC2', 'score': 0.21}]
chr3 GH03I046628 46628239 46630680 1.35 [{'connected_gene': 'RN7SL145P', 'score': 18.76}, {'connected_gene': 'SETD2', 'score': 17.0}, {'connected_gene': 'PTPN23', 'score': 14.27}, {'connected_gene': 'LTF', 'score': 11.75}, {'connected_gene': 'ALS2CL', 'score': 11.47}, {'connected_gene': 'CCDC12', 'score': 11.47}, {'connected_gene': 'TDGF1', 'score': 11.37}, {'connected_gene': 'BOLA2P2', 'score': 11.19}, {'connected_gene': 'RTP3', 'score': 10.62}, {'connected_gene': 'PRSS45', 'score': 7.37}, {'connected_gene': 'GC03P046626', 'score': 0.77}, {'connected_gene': 'GC03P046650', 'score': 0.34}]
chr3 GH03I046488 46488602 46490680 1.22 [{'connected_gene': 'RN7SL145P', 'score': 18.76}, {'connected_gene': 'SETD2', 'score': 17.0}, {'connected_gene': 'PTPN23', 'score': 14.27}, {'connected_gene': 'CCDC12', 'score': 11.47}, {'connected_gene': 'LTF', 'score': 8.03}, {'connected_gene': 'RTP3', 'score': 0.44}]
chr3 GH03I046440 46440950 46441179 0.88 [{'connected_gene': 'GC03M046431', 'score': 550.77}, {'connected_gene': 'CCRL2', 'score': 11.75}, {'connected_gene': 'CCR1', 'score': 5.16}, {'connected_gene': 'CCR5', 'score': 4.19}, {'connected_gene': 'GC03M046463', 'score': 0.34}, {'connected_gene': 'GC03M046464', 'score': 0.34}, {'connected_gene': 'LTF', 'score': 0.26}]
chr3 GH03I046437 46437788 46439571 0.31 [{'connected_gene': 'GC03M046431', 'score': 550.77}, {'connected_gene': 'TDGF1', 'score': 7.08}, {'connected_gene': 'LINC02009', 'score': 0.39}, {'connected_gene': 'LTF', 'score': 0.25}]
chr3 GH03I046464 46464801 46465200 0.81 [{'connected_gene': 'GC03M046463', 'score': 550.77}, {'connected_gene': 'GC03M046464', 'score': 550.77}, {'connected_gene': 'LTF', 'score': 550.34}]
chr3 GH03I046463 46463644 46463703 0.5 [{'connected_gene': 'GC03M046463', 'score': 550.77}, {'connected_gene': 'GC03M046464', 'score': 550.77}, {'connected_gene': 'LTF', 'score': 550.34}]
chr3 GH03I046465 46463201 46463600 0.2 [{'connected_gene': 'GC03M046463', 'score': 550.77}, {'connected_gene': 'GC03M046464', 'score': 550.77}, {'connected_gene': 'CCR1', 'score': 4.23}, {'connected_gene': 'LTF', 'score': 0.34}, {'connected_gene': 'GC03M046431', 'score': 0.34}]

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