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
ENST00000310394 [[25956823, 25958330], [25965288, 25965380], [25967597, 25967799], [25969263, 25969374], [25972886, 25972937], [25973572, 25973614], [25974055, 25974144], [25974295, 25974458], [25975861, 25976579]] [[25958291, 25958330], [25965288, 25965380], [25967597, 25967799], [25969263, 25969374], [25972886, 25972937], [25973572, 25973614], [25974055, 25974144], [25974295, 25974458], [25975861, 25976008]]
ENST00000395473 [[25956823, 25958330], [25965288, 25965380], [25967597, 25967799], [25969263, 25969374], [25970550, 25970646], [25972339, 25972375], [25972886, 25972937], [25973572, 25973614], [25974055, 25974144], [25974295, 25974458], [25975861, 25976586]] [[25958291, 25958330], [25965288, 25965380], [25967597, 25967799], [25969263, 25969374], [25970550, 25970646], [25972339, 25972375], [25972886, 25972937], [25973572, 25973614], [25974055, 25974144], [25974295, 25974458], [25975861, 25976008]]
ENST00000302228 [[25956823, 25958330], [25965288, 25965380], [25967597, 25967799], [25969263, 25969374], [25972339, 25972375], [25972886, 25972937], [25973572, 25973614], [25974055, 25974144], [25974295, 25974458], [25975861, 25976586]] [[25958291, 25958330], [25965288, 25965380], [25967597, 25967799], [25969263, 25969374], [25972339, 25972375], [25972886, 25972937], [25973572, 25973614], [25974055, 25974144], [25974295, 25974458], [25975861, 25976008]]
ENST00000313648 [[25958173, 25958330], [25965288, 25965380], [25967597, 25967799], [25969263, 25969374], [25972339, 25972375], [25972886, 25972937], [25973572, 25973614], [25974055, 25974144], [25975861, 25976459]] [[25958291, 25958330], [25965288, 25965380], [25967597, 25967799], [25969263, 25969374], [25972339, 25972375], [25972886, 25972937], [25973572, 25973614], [25974055, 25974144], [25975861, 25975940]]
ENST00000580779 [[25958192, 25958330], [25965288, 25965380], [25967668, 25967799], [25969263, 25969374], [25970550, 25970646], [25972339, 25972375], [25972886, 25972937], [25973572, 25973614], [25974055, 25974144], [25974295, 25974360]] [[25958291, 25958330], [25965288, 25965380], [25967668, 25967765]]
ENST00000579930 [[25958213, 25958330], [25965288, 25965380], [25967597, 25967799], [25969263, 25969449]] None
ENST00000577392 [[25958218, 25958330], [25965288, 25965380], [25967597, 25967799], [25969263, 25969374], [25974055, 25974136]] [[25958291, 25958330], [25965288, 25965380], [25967597, 25967799], [25969263, 25969374], [25974055, 25974136]]
ENST00000584661 [[25958220, 25958330], [25967597, 25967799], [25969263, 25969374], [25970550, 25970646], [25972339, 25972375], [25972886, 25972925]] [[25967736, 25967799], [25969263, 25969374], [25970550, 25970646], [25972339, 25972375], [25972886, 25972925]]
ENST00000413914 [[25958232, 25958330], [25965288, 25965380], [25967668, 25967799], [25969263, 25969374], [25970550, 25970646], [25972339, 25972375], [25972886, 25972937], [25973572, 25973614], [25974055, 25974144], [25975861, 25976581]] [[25965349, 25965380], [25967668, 25967799], [25969263, 25969374], [25970550, 25970646], [25972339, 25972375], [25972886, 25972937], [25973572, 25973614], [25974055, 25974144], [25975861, 25975940]]
ENST00000448970 [[25958234, 25958330], [25965288, 25965380], [25967597, 25967799], [25967990, 25968049]] None
ENST00000579402 [[25958236, 25958330], [25965288, 25965750]] None
ENST00000467111 [[25958239, 25958330], [25965288, 25965380], [25967668, 25967799], [25969263, 25969374], [25972339, 25972375], [25972886, 25972937], [25973572, 25973614], [25974055, 25974144], [25974295, 25974458], [25975861, 25976567]] [[25958291, 25958330], [25965288, 25965380], [25967668, 25967765]]
ENST00000584386 [[25958251, 25958330], [25965288, 25965380], [25967597, 25967799], [25969263, 25969374], [25972886, 25972937], [25973572, 25973614], [25974055, 25974190]] None
ENST00000583671 [[25967412, 25967799], [25969263, 25969374], [25970550, 25970607]] None
ENST00000581710 [[25967759, 25967799], [25969263, 25969374], [25972886, 25972937], [25973572, 25973614], [25974055, 25974144], [25975861, 25976282]] [[25967759, 25967799], [25969263, 25969374], [25972886, 25972937], [25973572, 25973614], [25974055, 25974144], [25975861, 25975940]]
ENST00000578944 [[25970565, 25970646], [25972886, 25972937], [25973572, 25973614], [25974055, 25974144], [25974295, 25974409]] [[25970565, 25970646], [25972886, 25972937], [25973572, 25973614], [25974055, 25974144], [25974295, 25974409]]
ENST00000481514 [[25971090, 25972375], [25972886, 25972937], [25973572, 25973614], [25974055, 25974144], [25974295, 25974458], [25975861, 25976580]] None
ENST00000486774 [[25971151, 25972937], [25973572, 25973614], [25974055, 25974458], [25975861, 25976581]] None
NR_024043 [[25958173, 25958330], [25965288, 25965380], [25967668, 25967799], [25969263, 25969374], [25972339, 25972375], [25972886, 25972937], [25973572, 25973614], [25974055, 25974144], [25974295, 25974458], [25975861, 25976586]] None
NM_001330163 [[25958173, 25958330], [25965288, 25965380], [25967597, 25967799], [25969263, 25969374], [25972339, 25972375], [25972886, 25972937], [25973572, 25973614], [25974055, 25974144], [25975861, 25976586]] [[25958291, 25958330], [25965288, 25965380], [25967597, 25967799], [25969263, 25969374], [25972339, 25972375], [25972886, 25972937], [25973572, 25973614], [25974055, 25974144], [25975861, 25975940]]
NM_002308 [[25958173, 25958330], [25965288, 25965380], [25967597, 25967799], [25969263, 25969374], [25972339, 25972375], [25972886, 25972937], [25973572, 25973614], [25974055, 25974144], [25974295, 25974458], [25975861, 25976586]] [[25958291, 25958330], [25965288, 25965380], [25967597, 25967799], [25969263, 25969374], [25972339, 25972375], [25972886, 25972937], [25973572, 25973614], [25974055, 25974144], [25974295, 25974458], [25975861, 25976008]]
NM_009587 [[25958173, 25958330], [25965288, 25965380], [25967597, 25967799], [25969263, 25969374], [25970550, 25970646], [25972339, 25972375], [25972886, 25972937], [25973572, 25973614], [25974055, 25974144], [25974295, 25974458], [25975861, 25976586]] [[25958291, 25958330], [25965288, 25965380], [25967597, 25967799], [25969263, 25969374], [25970550, 25970646], [25972339, 25972375], [25972886, 25972937], [25973572, 25973614], [25974055, 25974144], [25974295, 25974458], [25975861, 25976008]]
Promoter
Chrom Start End Description
chr17 25958114 25958129 CAGE_peak_3_at_LGALS9_5end
chr17 25958204 25958254 CAGE_peak_1_at_LGALS9_5end
chr17 25958269 25958280 CAGE_peak_2_at_LGALS9_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I027528 27528071 27537416 1.77 [{'connected_gene': 'KSR1', 'score': 23.99}, {'connected_gene': 'LGALS9', 'score': 10.13}, {'connected_gene': 'WSB1', 'score': 3.84}, {'connected_gene': 'PIR50901', 'score': 0.77}, {'connected_gene': 'LOC100420848', 'score': 0.44}]
chr17 GH17I027501 27501834 27507440 1.49 [{'connected_gene': 'KSR1', 'score': 17.41}, {'connected_gene': 'LGALS9', 'score': 4.39}, {'connected_gene': 'WSB1', 'score': 3.99}, {'connected_gene': 'PIR42403', 'score': 0.37}, {'connected_gene': 'GC17M027476', 'score': 0.34}]
chr17 GH17I027558 27558445 27561318 1.79 [{'connected_gene': 'KSR1', 'score': 550.15}, {'connected_gene': 'LGALS9', 'score': 7.48}, {'connected_gene': 'PIR50901', 'score': 0.34}, {'connected_gene': 'PIR39350', 'score': 0.25}]
chr17 GH17I027455 27455351 27461064 1.99 [{'connected_gene': 'KSR1', 'score': 564.58}, {'connected_gene': 'WSB1', 'score': 1.35}, {'connected_gene': 'LGALS9', 'score': 1.22}, {'connected_gene': 'GC17M027459', 'score': 0.77}]
chr17 GH17I027543 27543844 27547544 1.2 [{'connected_gene': 'KSR1', 'score': 36.11}, {'connected_gene': 'TMEM199', 'score': 11.62}, {'connected_gene': 'NOS2', 'score': 5.25}, {'connected_gene': 'LGALS9', 'score': 4.99}, {'connected_gene': 'PIR50901', 'score': 0.44}, {'connected_gene': 'PIR39350', 'score': 0.21}]
chr17 GH17I027982 27982672 27983530 0.62 [{'connected_gene': 'NLK', 'score': 11.35}, {'connected_gene': 'ENSG00000251818', 'score': 11.12}, {'connected_gene': 'ENSG00000202389', 'score': 11.12}, {'connected_gene': 'LYRM9', 'score': 10.18}, {'connected_gene': 'PYY2', 'score': 7.11}, {'connected_gene': 'LGALS9', 'score': 4.75}, {'connected_gene': 'LINC01992', 'score': 0.44}, {'connected_gene': 'GC17M027891', 'score': 0.17}]
chr17 GH17I027600 27600966 27601725 0.74 [{'connected_gene': 'LGALS9', 'score': 17.26}, {'connected_gene': 'IFT20', 'score': 10.15}, {'connected_gene': 'TMEM199', 'score': 9.93}, {'connected_gene': 'PIR39350', 'score': 0.77}, {'connected_gene': 'PIR50901', 'score': 0.2}, {'connected_gene': 'KSR1', 'score': 0.11}]
chr17 GH17I027488 27488201 27489973 1.28 [{'connected_gene': 'LGALS9', 'score': 9.69}, {'connected_gene': 'KSR1', 'score': 8.39}, {'connected_gene': 'WSB1', 'score': 7.43}, {'connected_gene': 'GC17M027476', 'score': 0.44}, {'connected_gene': 'PIR42403', 'score': 0.29}]
chr17 GH17I027585 27585135 27587007 0.93 [{'connected_gene': 'LGALS9', 'score': 7.88}, {'connected_gene': 'PIR39350', 'score': 0.37}, {'connected_gene': 'PIR50901', 'score': 0.23}, {'connected_gene': 'KSR1', 'score': 0.13}]
chr17 GH17I027562 27562388 27565010 0.96 [{'connected_gene': 'LGALS9', 'score': 8.45}, {'connected_gene': 'PIR50901', 'score': 0.31}, {'connected_gene': 'PIR39350', 'score': 0.26}, {'connected_gene': 'KSR1', 'score': 0.14}]
chr17 GH17I027549 27549069 27550148 0.31 [{'connected_gene': 'LGALS9', 'score': 4.72}, {'connected_gene': 'PIR50901', 'score': 0.39}, {'connected_gene': 'PIR39350', 'score': 0.22}, {'connected_gene': 'KSR1', 'score': 0.16}]
chr17 GH17I027582 27582477 27583187 0.38 [{'connected_gene': 'LGALS9', 'score': 17.74}, {'connected_gene': 'PIR39350', 'score': 0.34}, {'connected_gene': 'PIR50901', 'score': 0.25}, {'connected_gene': 'KSR1', 'score': 0.13}]
chr17 GH17I027602 27602017 27604908 1.17 [{'connected_gene': 'LGALS9', 'score': 18.46}, {'connected_gene': 'PIR39350', 'score': 0.77}, {'connected_gene': 'PIR50901', 'score': 0.2}, {'connected_gene': 'KSR1', 'score': 0.11}]
chr17 GH17I027654 27654600 27655164 1.29 [{'connected_gene': 'LGALS9', 'score': 30.35}, {'connected_gene': 'NOS2P1', 'score': 0.39}]
chr17 GH17I027629 27629816 27629875 0.5 [{'connected_gene': 'LGALS9', 'score': 550.77}, {'connected_gene': 'ENSG00000266728', 'score': 0.44}, {'connected_gene': 'NOS2P1', 'score': 0.28}]
chr17 GH17I027647 27647328 27648655 0.62 [{'connected_gene': 'LGALS9', 'score': 28.99}, {'connected_gene': 'NOS2', 'score': 10.61}, {'connected_gene': 'NOS2P1', 'score': 0.37}]
chr17 GH17I027797 27797202 27798318 0.56 [{'connected_gene': 'LGALS9', 'score': 4.83}, {'connected_gene': 'NOS2', 'score': 0.44}, {'connected_gene': 'PIR36820', 'score': 0.26}]
chr17 GH17I027595 27595317 27596354 0.38 [{'connected_gene': 'LGALS9', 'score': 17.59}, {'connected_gene': 'WSB1', 'score': 10.34}, {'connected_gene': 'PIR39350', 'score': 0.44}, {'connected_gene': 'PIR50901', 'score': 0.22}, {'connected_gene': 'KSR1', 'score': 0.12}]
chr17 GH17I027590 27590506 27595144 0.46 [{'connected_gene': 'LGALS9', 'score': 17.58}, {'connected_gene': 'WSB1', 'score': 10.21}, {'connected_gene': 'PIR39350', 'score': 0.39}, {'connected_gene': 'PIR50901', 'score': 0.22}, {'connected_gene': 'KSR1', 'score': 0.12}]
chr17 GH17I027565 27565895 27581229 1.69 [{'connected_gene': 'LGALS9', 'score': 17.96}, {'connected_gene': 'TMEM199', 'score': 13.34}, {'connected_gene': 'ITM2BP1', 'score': 12.18}, {'connected_gene': 'WSB1', 'score': 9.93}, {'connected_gene': 'PIR39350', 'score': 0.29}, {'connected_gene': 'PIR50901', 'score': 0.28}, {'connected_gene': 'KSR1', 'score': 0.13}]
chr17 GH17I027609 27609255 27610582 0.71 [{'connected_gene': 'LGALS9', 'score': 14.65}, {'connected_gene': 'PIR39350', 'score': 0.77}, {'connected_gene': 'ITM2BP1', 'score': 0.77}, {'connected_gene': 'KSR1', 'score': 0.1}]
chr17 GH17I027630 27630615 27636284 1.86 [{'connected_gene': 'LGALS9', 'score': 596.39}, {'connected_gene': 'ITM2BP1', 'score': 13.92}, {'connected_gene': 'TMEM199', 'score': 11.25}, {'connected_gene': 'SARM1', 'score': 10.22}, {'connected_gene': 'LYRM9', 'score': 4.06}, {'connected_gene': 'ENSG00000266728', 'score': 0.39}, {'connected_gene': 'NOS2P1', 'score': 0.29}]
chr17 GH17I027800 27800159 27801264 1.15 [{'connected_gene': 'NOS2', 'score': 550.77}, {'connected_gene': 'SLC13A2', 'score': 4.7}, {'connected_gene': 'LGALS9', 'score': 3.9}, {'connected_gene': 'PIR36820', 'score': 0.25}, {'connected_gene': 'ENSG00000266202', 'score': 0.16}]
chr17 GH17I027651 27651535 27651704 0.66 [{'connected_gene': 'NOS2', 'score': 10.61}, {'connected_gene': 'NOS2P1', 'score': 0.39}, {'connected_gene': 'LGALS9', 'score': 0.34}]
chr17 GH17I027597 27597603 27598780 0.65 [{'connected_gene': 'WSB1', 'score': 10.34}, {'connected_gene': 'LGALS9', 'score': 8.46}, {'connected_gene': 'PIR39350', 'score': 0.44}, {'connected_gene': 'PIR50901', 'score': 0.21}, {'connected_gene': 'KSR1', 'score': 0.11}]
chr17 GH17I027206 27206601 27207641 1.11 [{'connected_gene': 'WSB1', 'score': 4.31}, {'connected_gene': 'LGALS9', 'score': 2.99}, {'connected_gene': 'LOC105371704', 'score': 0.34}, {'connected_gene': 'LOC105371703', 'score': 0.13}]
chr17 GH17I027348 27348201 27350440 1.48 [{'connected_gene': 'WSB1', 'score': 15.81}, {'connected_gene': 'LGALS9', 'score': 1.97}, {'connected_gene': 'SYPL1P2', 'score': 0.77}, {'connected_gene': 'GC17M027350', 'score': 0.77}, {'connected_gene': 'ENSG00000266313', 'score': 0.37}]
chr17 GH17I027809 27809825 27812749 0.97 [{'connected_gene': 'LYRM9', 'score': 16.61}, {'connected_gene': 'NOS2', 'score': 12.78}, {'connected_gene': 'LGALS9', 'score': 3.76}, {'connected_gene': 'ENSG00000266527', 'score': 0.21}, {'connected_gene': 'ENSG00000266202', 'score': 0.18}]
chr17 GH17I027351 27351551 27354929 2.02 [{'connected_gene': 'SYPL1P2', 'score': 550.77}, {'connected_gene': 'GC17M027350', 'score': 550.77}, {'connected_gene': 'WSB1', 'score': 14.31}, {'connected_gene': 'ITM2BP1', 'score': 12.64}, {'connected_gene': 'LGALS9', 'score': 1.58}]
chr17 GH17I027518 27518780 27522384 1.23 [{'connected_gene': 'PIR42403', 'score': 550.77}, {'connected_gene': 'KSR1', 'score': 18.37}, {'connected_gene': 'LGALS9', 'score': 5.8}, {'connected_gene': 'GC17M027527', 'score': 0.44}]
chr17 GH17I027793 27793351 27794200 0.74 [{'connected_gene': 'ENSG00000202389', 'score': 10.29}, {'connected_gene': 'ENSG00000251818', 'score': 10.29}, {'connected_gene': 'LGALS9', 'score': 9.12}, {'connected_gene': 'NOS2', 'score': 0.39}, {'connected_gene': 'PIR36820', 'score': 0.26}]
chr17 GH17I027281 27281201 27283968 1.28 [{'connected_gene': 'ENSG00000265453', 'score': 550.77}, {'connected_gene': 'WSB1', 'score': 8.77}, {'connected_gene': 'LGALS9', 'score': 5.14}, {'connected_gene': 'MIR4522', 'score': 0.39}]
chr17 GH17I027991 27991996 27997105 0.68 [{'connected_gene': 'ENSG00000251818', 'score': 11.7}, {'connected_gene': 'ENSG00000202389', 'score': 11.67}, {'connected_gene': 'LYRM9', 'score': 10.44}, {'connected_gene': 'SPAG5-AS1', 'score': 9.7}, {'connected_gene': 'LGALS9', 'score': 4.75}, {'connected_gene': 'NLK', 'score': 4.5}, {'connected_gene': 'SLC46A1', 'score': 4.46}, {'connected_gene': 'LINC01992', 'score': 0.77}, {'connected_gene': 'GC17P028019', 'score': 0.34}]
chr17 GH17I027237 27237856 27246622 1.58 [{'connected_gene': 'ENSG00000265246', 'score': 550.77}, {'connected_gene': 'ITM2BP1', 'score': 49.8}, {'connected_gene': 'WSB1', 'score': 31.44}, {'connected_gene': 'LGALS9', 'score': 6.36}, {'connected_gene': 'RPL34P31', 'score': 0.29}]
chr17 GH17I027331 27331315 27334627 2.05 [{'connected_gene': 'ENSG00000266313', 'score': 550.77}, {'connected_gene': 'ITM2BP1', 'score': 18.67}, {'connected_gene': 'WSB1', 'score': 14.67}, {'connected_gene': 'LGALS9', 'score': 2.26}, {'connected_gene': 'GC17P027315', 'score': 0.37}]

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