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
ENST00000603557 [[62461568, 62461658], [62462558, 62462615], [62462710, 62462779], [62463681, 62464051]] [[62461568, 62461658], [62462558, 62462615], [62462710, 62462779], [62463681, 62463734]]
ENST00000605096 [[62461568, 62461658], [62462558, 62462615], [62462710, 62462779], [62463681, 62463762], [62464426, 62464760]] [[62461568, 62461658], [62462558, 62462615], [62462710, 62462779], [62463681, 62463734]]
NM_001291317 [[62461566, 62461658], [62462558, 62462615], [62462710, 62462779], [62463681, 62463762], [62464426, 62464760]] [[62461566, 62461658], [62462558, 62462615], [62462710, 62462779], [62463681, 62463734]]
NM_001291316 [[62461566, 62461658], [62462558, 62462615], [62462710, 62462779], [62463681, 62463762], [62464426, 62464760]] [[62461566, 62461658], [62462558, 62462615], [62462710, 62462779], [62463681, 62463734]]
NM_001085423 [[62461566, 62461658], [62462558, 62462615], [62462710, 62462779], [62463681, 62463762], [62464426, 62464760]] [[62461566, 62461658], [62462558, 62462615], [62462710, 62462779], [62463681, 62463734]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I064607 64607759 64609262 0.88 [{'connected_gene': 'CEP95', 'score': 151.88}, {'connected_gene': 'DDX42', 'score': 116.47}, {'connected_gene': 'SLC16A6P1', 'score': 83.6}, {'connected_gene': 'FTSJ3', 'score': 81.68}, {'connected_gene': 'POLG2', 'score': 77.49}, {'connected_gene': 'DDX5', 'score': 53.72}, {'connected_gene': 'SMARCD2', 'score': 51.84}, {'connected_gene': 'ENSG00000265982', 'score': 50.63}, {'connected_gene': 'ENSG00000265218', 'score': 47.77}, {'connected_gene': 'PLEKHM1P1', 'score': 43.95}, {'connected_gene': 'ENSG00000281311', 'score': 42.99}, {'connected_gene': 'ENSG00000265912', 'score': 39.29}, {'connected_gene': 'AMZ2P1', 'score': 32.73}, {'connected_gene': 'KPNA2P3', 'score': 19.55}, {'connected_gene': 'SMURF2', 'score': 19.32}, {'connected_gene': 'AXIN2', 'score': 18.88}, {'connected_gene': 'LRRC37A3', 'score': 18.08}, {'connected_gene': 'EEF1DP7', 'score': 12.03}, {'connected_gene': 'MAP3K3', 'score': 11.78}, {'connected_gene': 'ENSG00000264057', 'score': 9.75}, {'connected_gene': 'MILR1', 'score': 6.59}, {'connected_gene': 'GC17P064641', 'score': 0.29}, {'connected_gene': 'ENSG00000271779', 'score': 0.28}]
chr17 GH17I064657 64657001 64663491 2.42 [{'connected_gene': 'SMURF2', 'score': 550.77}, {'connected_gene': 'CEP95', 'score': 26.22}, {'connected_gene': 'DDX42', 'score': 23.46}, {'connected_gene': 'SMARCD2', 'score': 17.61}, {'connected_gene': 'DDX5', 'score': 17.1}, {'connected_gene': 'FTSJ3', 'score': 16.25}, {'connected_gene': 'PLEKHM1P1', 'score': 15.08}, {'connected_gene': 'POLG2', 'score': 14.47}, {'connected_gene': 'ENSG00000281311', 'score': 14.09}, {'connected_gene': 'ENSG00000265982', 'score': 12.69}, {'connected_gene': 'ENSG00000265912', 'score': 12.43}, {'connected_gene': 'SLC16A6P1', 'score': 12.06}, {'connected_gene': 'ERN1', 'score': 11.35}, {'connected_gene': 'ENSG00000265218', 'score': 11.23}, {'connected_gene': 'MILR1', 'score': 9.77}, {'connected_gene': 'LRRC37A3', 'score': 4.36}, {'connected_gene': 'GC17P064641', 'score': 0.37}]
chr17 GH17I064635 64635217 64637030 1 [{'connected_gene': 'SMURF2', 'score': 12.47}, {'connected_gene': 'MILR1', 'score': 10.4}, {'connected_gene': 'KPNA2P3', 'score': 4.22}, {'connected_gene': 'GC17P064641', 'score': 0.44}, {'connected_gene': 'ENSG00000271779', 'score': 0.21}]
chr17 GH17I064616 64616903 64617830 0.38 [{'connected_gene': 'SMURF2', 'score': 11.92}, {'connected_gene': 'MILR1', 'score': 10.4}, {'connected_gene': 'GC17P064641', 'score': 0.34}, {'connected_gene': 'ENSG00000271779', 'score': 0.26}]
chr17 GH17I064612 64612765 64615839 1.08 [{'connected_gene': 'SMURF2', 'score': 11.9}, {'connected_gene': 'MILR1', 'score': 10.41}, {'connected_gene': 'GC17P064641', 'score': 0.31}, {'connected_gene': 'ENSG00000271779', 'score': 0.26}]
chr17 GH17I064918 64918201 64921098 2.09 [{'connected_gene': 'LRRC37A3', 'score': 550.77}, {'connected_gene': 'CEP95', 'score': 45.46}, {'connected_gene': 'POLG2', 'score': 42.24}, {'connected_gene': 'SLC16A6P1', 'score': 35.84}, {'connected_gene': 'DDX5', 'score': 25.65}, {'connected_gene': 'ENSG00000281311', 'score': 23.25}, {'connected_gene': 'PLEKHM1P1', 'score': 14.61}, {'connected_gene': 'ENSG00000265982', 'score': 14.57}, {'connected_gene': 'ENSG00000265912', 'score': 11.47}, {'connected_gene': 'ENSG00000265218', 'score': 11.21}, {'connected_gene': 'KPNA2P3', 'score': 11.06}, {'connected_gene': 'SMURF2', 'score': 10.21}, {'connected_gene': 'ATP5MFP4', 'score': 5.86}, {'connected_gene': 'AMZ2P1', 'score': 5.16}, {'connected_gene': 'MILR1', 'score': 4.43}, {'connected_gene': 'ENSG00000264057', 'score': 0.44}, {'connected_gene': 'GC17P064882', 'score': 0.28}, {'connected_gene': 'GC17M064881', 'score': 0.11}]
chr17 GH17I064013 64013564 64026490 2.54 [{'connected_gene': 'ICAM2', 'score': 552.44}, {'connected_gene': 'PRR29', 'score': 33.92}, {'connected_gene': 'DDX5', 'score': 32.75}, {'connected_gene': 'FTSJ3', 'score': 30.47}, {'connected_gene': 'SMARCD2', 'score': 29.41}, {'connected_gene': 'POLG2', 'score': 28.67}, {'connected_gene': 'CEP95', 'score': 28.66}, {'connected_gene': 'PLEKHM1P1', 'score': 27.56}, {'connected_gene': 'ENSG00000265982', 'score': 23.49}, {'connected_gene': 'DDX42', 'score': 23.3}, {'connected_gene': 'ENSG00000281311', 'score': 23.09}, {'connected_gene': 'SLC16A6P1', 'score': 20.69}, {'connected_gene': 'CSHL1', 'score': 12.69}, {'connected_gene': 'GH1', 'score': 12.69}, {'connected_gene': 'SCN4A', 'score': 12.43}, {'connected_gene': 'ERN1', 'score': 11.46}, {'connected_gene': 'ACE', 'score': 5.48}, {'connected_gene': 'MILR1', 'score': 2.56}, {'connected_gene': 'LIMD2', 'score': 1.53}, {'connected_gene': 'MAP3K3', 'score': 1.41}, {'connected_gene': 'GC17M064000', 'score': 0.37}]
chr17 GH17I064537 64537523 64538145 0.87 [{'connected_gene': 'MILR1', 'score': 10.52}, {'connected_gene': 'GC17M064530', 'score': 0.44}, {'connected_gene': 'GC17P064546', 'score': 0.44}, {'connected_gene': 'CEP95', 'score': 0.29}]
chr17 GH17I064633 64632201 64633200 0.72 [{'connected_gene': 'MILR1', 'score': 10.4}, {'connected_gene': 'GC17P064641', 'score': 0.44}, {'connected_gene': 'SMURF2', 'score': 0.31}, {'connected_gene': 'ENSG00000271779', 'score': 0.22}]
chr17 GH17I064628 64628264 64629160 0.38 [{'connected_gene': 'MILR1', 'score': 6.39}, {'connected_gene': 'GC17P064641', 'score': 0.39}, {'connected_gene': 'SMURF2', 'score': 0.29}, {'connected_gene': 'ENSG00000271779', 'score': 0.22}]
chr17 GH17I064598 64598777 64600132 1.21 [{'connected_gene': 'MILR1', 'score': 10.41}, {'connected_gene': 'ENSG00000271779', 'score': 0.31}, {'connected_gene': 'GC17P064641', 'score': 0.26}, {'connected_gene': 'SMURF2', 'score': 0.21}]
chr17 GH17I064619 64619062 64620712 1.03 [{'connected_gene': 'MILR1', 'score': 13.2}, {'connected_gene': 'GC17P064641', 'score': 0.34}, {'connected_gene': 'SMURF2', 'score': 0.26}, {'connected_gene': 'ENSG00000271779', 'score': 0.25}]
chr17 GH17I064648 64648861 64649029 0.76 [{'connected_gene': 'MILR1', 'score': 6.47}, {'connected_gene': 'GC17P064641', 'score': 0.44}, {'connected_gene': 'SMURF2', 'score': 0.39}]
chr17 GH17I064603 64603853 64605309 0.63 [{'connected_gene': 'MILR1', 'score': 10.41}, {'connected_gene': 'ENSG00000271779', 'score': 0.29}, {'connected_gene': 'GC17P064641', 'score': 0.28}, {'connected_gene': 'SMURF2', 'score': 0.22}]
chr17 GH17I064626 64626690 64627945 0.67 [{'connected_gene': 'MILR1', 'score': 10.4}, {'connected_gene': 'GC17P064641', 'score': 0.39}, {'connected_gene': 'SMURF2', 'score': 0.29}, {'connected_gene': 'ENSG00000271779', 'score': 0.23}]
chr17 GH17I064649 64649928 64651212 0.38 [{'connected_gene': 'MILR1', 'score': 10.69}, {'connected_gene': 'GC17P064641', 'score': 0.44}, {'connected_gene': 'SMURF2', 'score': 0.39}]
chr17 GH17I064630 64630834 64632003 0.94 [{'connected_gene': 'MILR1', 'score': 10.4}, {'connected_gene': 'GC17P064641', 'score': 0.39}, {'connected_gene': 'SMURF2', 'score': 0.29}, {'connected_gene': 'ENSG00000271779', 'score': 0.22}]
chr17 GH17I064645 64645238 64646147 0.2 [{'connected_gene': 'MILR1', 'score': 7.98}, {'connected_gene': 'GC17P064641', 'score': 0.77}, {'connected_gene': 'SMURF2', 'score': 0.37}]
chr17 GH17I064605 64605805 64607233 0.2 [{'connected_gene': 'MILR1', 'score': 10.41}, {'connected_gene': 'ENSG00000271779', 'score': 0.29}, {'connected_gene': 'GC17P064641', 'score': 0.28}, {'connected_gene': 'SMURF2', 'score': 0.22}]
chr17 GH17I064652 64652633 64654659 1.1 [{'connected_gene': 'MILR1', 'score': 10.82}, {'connected_gene': 'AMZ2P1', 'score': 5.47}, {'connected_gene': 'SMURF2', 'score': 0.44}, {'connected_gene': 'GC17P064641', 'score': 0.39}]
chr17 GH17I064622 64622359 64625039 0.94 [{'connected_gene': 'MILR1', 'score': 10.41}, {'connected_gene': 'AMZ2P1', 'score': 4.95}, {'connected_gene': 'GC17P064641', 'score': 0.37}, {'connected_gene': 'SMURF2', 'score': 0.28}, {'connected_gene': 'ENSG00000271779', 'score': 0.23}]
chr17 GH17I064441 64441001 64441200 0.2 [{'connected_gene': 'MILR1', 'score': 0.44}, {'connected_gene': 'MIR1273E', 'score': 0.37}]
chr17 GH17I064442 64441601 64444199 0.2 [{'connected_gene': 'MILR1', 'score': 0.77}, {'connected_gene': 'MIR1273E', 'score': 0.37}]
chr17 GH17I064456 64456001 64457727 0.2 [{'connected_gene': 'MILR1', 'score': 0.44}, {'connected_gene': 'PIR41982', 'score': 0.29}]
chr17 GH17I064448 64448401 64452000 0.2 [{'connected_gene': 'MILR1', 'score': 0.77}, {'connected_gene': 'PIR41982', 'score': 0.26}]
chr17 GH17I064073 64073490 64078301 1.69 [{'connected_gene': 'ERN1', 'score': 47.34}, {'connected_gene': 'DDX5', 'score': 13.91}, {'connected_gene': 'CSHL1', 'score': 12.06}, {'connected_gene': 'GH1', 'score': 12.06}, {'connected_gene': 'MAP3K3', 'score': 6.0}, {'connected_gene': 'LIMD2', 'score': 3.36}, {'connected_gene': 'ICAM2', 'score': 2.69}, {'connected_gene': 'PECAM1', 'score': 1.5}, {'connected_gene': 'MILR1', 'score': 1.16}, {'connected_gene': 'GC17M064041', 'score': 0.29}]
chr17 GH17I064500 64500923 64508621 2.35 [{'connected_gene': 'DDX5', 'score': 642.74}, {'connected_gene': 'CEP95', 'score': 642.15}, {'connected_gene': 'POLG2', 'score': 101.02}, {'connected_gene': 'FTSJ3', 'score': 96.75}, {'connected_gene': 'DDX42', 'score': 85.92}, {'connected_gene': 'PLEKHM1P1', 'score': 78.68}, {'connected_gene': 'ENSG00000265982', 'score': 76.09}, {'connected_gene': 'SMARCD2', 'score': 75.52}, {'connected_gene': 'SLC16A6P1', 'score': 74.16}, {'connected_gene': 'ENSG00000281311', 'score': 39.55}, {'connected_gene': 'MAP3K3', 'score': 25.38}, {'connected_gene': 'EEF1DP7', 'score': 22.76}, {'connected_gene': 'SMURF2', 'score': 20.79}, {'connected_gene': 'ERN1', 'score': 11.37}, {'connected_gene': 'ENSG00000264057', 'score': 10.8}, {'connected_gene': 'ENSG00000265912', 'score': 10.61}, {'connected_gene': 'MILR1', 'score': 10.54}, {'connected_gene': 'DCAF7', 'score': 10.47}, {'connected_gene': 'ENSG00000265218', 'score': 10.2}, {'connected_gene': 'MIR5047', 'score': 0.77}]
chr17 GH17I064495 64495800 64499292 2.07 [{'connected_gene': 'POLG2', 'score': 602.43}, {'connected_gene': 'SMARCD2', 'score': 50.44}, {'connected_gene': 'PLEKHM1P1', 'score': 49.57}, {'connected_gene': 'ENSG00000265982', 'score': 47.87}, {'connected_gene': 'DDX5', 'score': 44.18}, {'connected_gene': 'FTSJ3', 'score': 42.41}, {'connected_gene': 'CEP95', 'score': 40.93}, {'connected_gene': 'SLC16A6P1', 'score': 33.74}, {'connected_gene': 'DDX42', 'score': 33.7}, {'connected_gene': 'ENSG00000281311', 'score': 31.46}, {'connected_gene': 'MILR1', 'score': 17.87}, {'connected_gene': 'ERN1', 'score': 11.37}, {'connected_gene': 'MIR3064', 'score': 0.77}]
chr17 GH17I064833 64833601 64834999 0.71 [{'connected_gene': 'LOC105376844', 'score': 550.77}, {'connected_gene': 'MILR1', 'score': 4.64}, {'connected_gene': 'PLEKHM1P1', 'score': 0.77}, {'connected_gene': 'RNU7-115P', 'score': 0.44}]
chr17 GH17I064845 64845638 64848433 0.95 [{'connected_gene': 'LOC105371860', 'score': 550.77}, {'connected_gene': 'ENSG00000272400', 'score': 550.77}, {'connected_gene': 'MILR1', 'score': 4.75}, {'connected_gene': 'PLEKHM1P1', 'score': 0.44}, {'connected_gene': 'LOC105376844', 'score': 0.39}]
chr17 GH17I064491 64491321 64491548 0.55 [{'connected_gene': 'PIR41982', 'score': 550.77}, {'connected_gene': 'ATP5MFP4', 'score': 550.77}, {'connected_gene': 'MILR1', 'score': 9.99}, {'connected_gene': 'ICAM2', 'score': 1.59}, {'connected_gene': 'POLG2', 'score': 0.44}]
chr17 GH17I064641 64641274 64642318 1.06 [{'connected_gene': 'GC17P064641', 'score': 550.77}, {'connected_gene': 'SMURF2', 'score': 12.46}, {'connected_gene': 'MILR1', 'score': 10.4}]
chr17 GH17I065183 65183295 65185082 1.23 [{'connected_gene': 'ENSG00000265883', 'score': 550.77}, {'connected_gene': 'PLEKHM1P1', 'score': 36.51}, {'connected_gene': 'ENSG00000265982', 'score': 34.43}, {'connected_gene': 'POLG2', 'score': 26.81}, {'connected_gene': 'DDX5', 'score': 17.03}, {'connected_gene': 'CEP95', 'score': 13.1}, {'connected_gene': 'RGS9', 'score': 12.2}, {'connected_gene': 'SLC16A6P1', 'score': 12.07}, {'connected_gene': 'GNA13', 'score': 11.14}, {'connected_gene': 'MILR1', 'score': 4.27}, {'connected_gene': 'ZNF848P', 'score': 0.44}]
chr17 GH17I065186 65185803 65185952 0.49 [{'connected_gene': 'ENSG00000265883', 'score': 550.77}, {'connected_gene': 'RGS9', 'score': 12.2}, {'connected_gene': 'GNA13', 'score': 11.14}, {'connected_gene': 'MILR1', 'score': 4.27}, {'connected_gene': 'GC17M065237', 'score': 0.23}]
chr17 GH17I064530 64530128 64530525 0.4 [{'connected_gene': 'GC17M064530', 'score': 550.77}, {'connected_gene': 'MILR1', 'score': 7.83}, {'connected_gene': 'CEP95', 'score': 0.34}, {'connected_gene': 'DDX5', 'score': 0.34}]
chr17 GH17I064531 64531595 64532950 0.38 [{'connected_gene': 'GC17M064530', 'score': 550.77}, {'connected_gene': 'MILR1', 'score': 10.52}, {'connected_gene': 'DDX42', 'score': 9.77}, {'connected_gene': 'GC17P064546', 'score': 0.39}, {'connected_gene': 'CEP95', 'score': 0.31}]
chr17 GH17I064470 64470547 64470992 0.31 [{'connected_gene': 'PIR41982', 'score': 0.37}, {'connected_gene': 'MILR1', 'score': 0.34}]
chr17 GH17I064475 64475538 64476026 0.31 [{'connected_gene': 'PIR41982', 'score': 0.39}, {'connected_gene': 'MILR1', 'score': 0.31}]
chr17 GH17I064571 64571190 64574045 1.06 [{'connected_gene': 'ENSG00000271779', 'score': 550.77}, {'connected_gene': 'DDX42', 'score': 9.76}, {'connected_gene': 'MILR1', 'score': 8.32}, {'connected_gene': 'LRRC37A3', 'score': 5.3}, {'connected_gene': 'GC17P064546', 'score': 0.31}, {'connected_gene': 'SMURF2', 'score': 0.17}]

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