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
ENST00000370658 [[63985855, 63990505], [63990926, 63991125], [63995491, 63995658], [64004817, 64004950], [64029818, 64029882]] [[63990407, 63990505], [63990926, 63991125], [63995491, 63995658], [64004817, 64004950], [64029818, 64029848]]
ENST00000485906 [[63989287, 63989332], [63990926, 63991125], [63995491, 63995658], [64004817, 64004950], [64029818, 64029882]] [[63989287, 63989332], [63990926, 63991125], [63995491, 63995658], [64004817, 64004950], [64029818, 64029848]]
ENST00000370657 [[63989540, 63991125], [63995491, 63995658], [64004817, 64004950], [64029818, 64029882]] [[63989925, 63991125], [63995491, 63995658], [64004817, 64004950], [64029818, 64029848]]
NM_016571 [[63985855, 63991125], [63995491, 63995658], [64004817, 64004950], [64029818, 64029882]] [[63989925, 63991125], [63995491, 63995658], [64004817, 64004950], [64029818, 64029848]]
NM_001143940 [[63985855, 63990505], [63990926, 63991125], [63995491, 63995658], [64004817, 64004950], [64029818, 64029882]] [[63990407, 63990505], [63990926, 63991125], [63995491, 63995658], [64004817, 64004950], [64029818, 64029848]]
Promoter
Chrom Start End Description
chr6 64029879 64029891 CAGE_peak_1_at_LGSN_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I063522 63522716 63522865 0.76 [{'connected_gene': 'PTP4A1', 'score': 550.77}, {'connected_gene': 'LGSN', 'score': 5.3}, {'connected_gene': 'GC06M063529', 'score': 0.44}]
chr6 GH06I063518 63518332 63520006 0.88 [{'connected_gene': 'PTP4A1', 'score': 0.77}, {'connected_gene': 'GC06P063496', 'score': 0.34}, {'connected_gene': 'LGSN', 'score': 0.25}]
chr6 GH06I063236 63236596 63236745 0.43 [{'connected_gene': 'FKBP1C', 'score': 12.08}, {'connected_gene': 'LGSN', 'score': 4.76}, {'connected_gene': 'LOC100128610', 'score': 0.44}, {'connected_gene': 'GC06P063252', 'score': 0.37}, {'connected_gene': 'GC06P062884', 'score': 0.05}, {'connected_gene': 'GC06P062882', 'score': 0.05}, {'connected_gene': 'GC06P062883', 'score': 0.05}, {'connected_gene': 'GC06P062885', 'score': 0.05}]
chr6 GH06I063456 63456389 63461214 1.19 [{'connected_gene': 'LGSN', 'score': 18.7}, {'connected_gene': 'PTP4A1', 'score': 3.1}, {'connected_gene': 'GC06M063463', 'score': 0.44}, {'connected_gene': 'GC06M063427', 'score': 0.37}, {'connected_gene': 'GC06M063429', 'score': 0.37}, {'connected_gene': 'GC06M063428', 'score': 0.37}, {'connected_gene': 'GC06M063421', 'score': 0.37}]
chr6 GH06I063501 63501711 63502844 0.43 [{'connected_gene': 'LGSN', 'score': 17.46}, {'connected_gene': 'GC06P063496', 'score': 0.44}, {'connected_gene': 'PTP4A1', 'score': 0.37}]
chr6 GH06I063568 63568059 63568540 0.31 [{'connected_gene': 'LGSN', 'score': 550.77}, {'connected_gene': 'ENSG00000266680', 'score': 0.77}, {'connected_gene': 'PTP4A1', 'score': 0.25}]
chr6 GH06I063562 63562786 63567198 1.11 [{'connected_gene': 'LGSN', 'score': 9.75}, {'connected_gene': 'GC06P063560', 'score': 0.77}, {'connected_gene': 'PTP4A1', 'score': 0.26}]
chr6 GH06I063526 63526848 63530581 1.41 [{'connected_gene': 'LGSN', 'score': 17.12}, {'connected_gene': 'GC06M063529', 'score': 0.77}, {'connected_gene': 'PTP4A1', 'score': 0.44}]
chr6 GH06I063567 63567512 63567863 0.31 [{'connected_gene': 'LGSN', 'score': 550.77}, {'connected_gene': 'GC06P063560', 'score': 0.44}, {'connected_gene': 'PTP4A1', 'score': 0.25}]
chr6 GH06I063509 63509079 63511768 1.16 [{'connected_gene': 'LGSN', 'score': 17.29}, {'connected_gene': 'ENSG00000236345', 'score': 9.43}, {'connected_gene': 'PTP4A1', 'score': 1.6}, {'connected_gene': 'GC06P063496', 'score': 0.39}]
chr6 GH06I063515 63515190 63517758 0.93 [{'connected_gene': 'LGSN', 'score': 16.99}, {'connected_gene': 'PTP4A1', 'score': 0.44}, {'connected_gene': 'GC06P063496', 'score': 0.34}]
chr6 GH06I063476 63476436 63476585 0.66 [{'connected_gene': 'LGSN', 'score': 17.16}, {'connected_gene': 'EEF1B2P5', 'score': 0.77}, {'connected_gene': 'GC06M063463', 'score': 0.39}]
chr6 GH06I063536 63536989 63538723 1.2 [{'connected_gene': 'LGSN', 'score': 17.63}, {'connected_gene': 'PHF3', 'score': 12.28}, {'connected_gene': 'GC06P063532', 'score': 0.44}, {'connected_gene': 'RPL7AP34', 'score': 0.39}, {'connected_gene': 'PTP4A1', 'score': 0.37}]
chr6 GH06I063451 63451846 63453566 0.92 [{'connected_gene': 'LGSN', 'score': 27.47}, {'connected_gene': 'PHF3', 'score': 11.15}, {'connected_gene': 'GC06M063427', 'score': 0.39}, {'connected_gene': 'GC06M063429', 'score': 0.39}, {'connected_gene': 'GC06M063428', 'score': 0.39}, {'connected_gene': 'GC06M063463', 'score': 0.39}, {'connected_gene': 'GC06M063421', 'score': 0.39}]
chr6 GH06I063319 63319973 63320032 0.5 [{'connected_gene': 'LGSN', 'score': 550.07}, {'connected_gene': 'GC06M063310', 'score': 0.44}, {'connected_gene': 'GC06M063391', 'score': 0.19}, {'connected_gene': 'GC06M063390', 'score': 0.19}, {'connected_gene': 'GC06M063389', 'score': 0.19}]
chr6 GH06I063346 63346336 63350185 1.13 [{'connected_gene': 'LGSN', 'score': 17.24}, {'connected_gene': 'ENSG00000236345', 'score': 11.37}, {'connected_gene': 'GC06M063310', 'score': 0.28}, {'connected_gene': 'GC06M063391', 'score': 0.26}, {'connected_gene': 'GC06M063390', 'score': 0.26}, {'connected_gene': 'GC06M063389', 'score': 0.26}]
chr6 GH06I063550 63550240 63550800 0.2 [{'connected_gene': 'RPL7AP34', 'score': 550.77}, {'connected_gene': 'LGSN', 'score': 9.84}, {'connected_gene': 'GC06P063558', 'score': 0.44}, {'connected_gene': 'PTP4A1', 'score': 0.31}]
chr6 GH06I063504 63504856 63505005 0.79 [{'connected_gene': 'GC06P063496', 'score': 0.44}, {'connected_gene': 'PTP4A1', 'score': 0.37}, {'connected_gene': 'LGSN', 'score': 0.21}]
chr6 GH06I063569 63569469 63576810 2.32 [{'connected_gene': 'ENSG00000266680', 'score': 550.77}, {'connected_gene': 'PTP4A1', 'score': 550.23}, {'connected_gene': 'PHF3', 'score': 11.34}, {'connected_gene': 'LGSN', 'score': 10.6}, {'connected_gene': 'ENSG00000236345', 'score': 10.34}, {'connected_gene': 'GC06M063587', 'score': 0.37}]
chr6 GH06I063441 63441389 63441874 0.74 [{'connected_gene': 'GC06M063427', 'score': 550.77}, {'connected_gene': 'GC06M063429', 'score': 550.77}, {'connected_gene': 'GC06M063428', 'score': 550.77}, {'connected_gene': 'LOC642554', 'score': 550.77}, {'connected_gene': 'GC06M063421', 'score': 550.77}, {'connected_gene': 'LGSN', 'score': 23.37}, {'connected_gene': 'GC06M063463', 'score': 0.34}]
chr6 GH06I063440 63440168 63440336 0.4 [{'connected_gene': 'GC06M063427', 'score': 550.77}, {'connected_gene': 'GC06M063429', 'score': 550.77}, {'connected_gene': 'GC06M063428', 'score': 550.77}, {'connected_gene': 'GC06M063416', 'score': 550.77}, {'connected_gene': 'LOC642554', 'score': 550.77}, {'connected_gene': 'GC06M063421', 'score': 550.77}, {'connected_gene': 'LGSN', 'score': 0.13}]
chr6 GH06I063560 63560303 63561899 0.99 [{'connected_gene': 'GC06P063560', 'score': 550.77}, {'connected_gene': 'LGSN', 'score': 0.44}, {'connected_gene': 'PTP4A1', 'score': 0.28}]
chr6 GH06I063558 63558155 63559339 0.2 [{'connected_gene': 'GC06P063558', 'score': 550.77}, {'connected_gene': 'GC06P063560', 'score': 550.77}, {'connected_gene': 'LGSN', 'score': 0.44}, {'connected_gene': 'PTP4A1', 'score': 0.28}]
chr6 GH06I063495 63495645 63497225 0.76 [{'connected_gene': 'GC06P063496', 'score': 550.77}, {'connected_gene': 'LGSN', 'score': 17.29}, {'connected_gene': 'PTP4A1', 'score': 0.31}]
chr6 GH06I063859 63859601 63860000 0.2 [{'connected_gene': 'ENSG00000236345', 'score': 10.71}, {'connected_gene': 'LGSN', 'score': 6.62}, {'connected_gene': 'GCNT1P4', 'score': 0.77}, {'connected_gene': 'GC06P063872', 'score': 0.39}]
chr6 GH06I063352 63352002 63353805 1.44 [{'connected_gene': 'ENSG00000236345', 'score': 10.9}, {'connected_gene': 'LGSN', 'score': 10.56}, {'connected_gene': 'GC06M063391', 'score': 0.28}, {'connected_gene': 'GC06M063390', 'score': 0.28}, {'connected_gene': 'GC06M063389', 'score': 0.28}, {'connected_gene': 'GC06M063310', 'score': 0.26}]
chr6 GH06I063303 63303586 63307986 0.73 [{'connected_gene': 'GC06P063304', 'score': 550.77}, {'connected_gene': 'LGSN', 'score': 6.86}, {'connected_gene': 'GC06M063310', 'score': 0.44}]
chr6 GH06I063345 63345643 63345864 0.23 [{'connected_gene': 'ENSG00000236345', 'score': 10.4}, {'connected_gene': 'GC06M063310', 'score': 0.29}, {'connected_gene': 'GC06M063391', 'score': 0.26}, {'connected_gene': 'GC06M063390', 'score': 0.26}, {'connected_gene': 'GC06M063389', 'score': 0.26}, {'connected_gene': 'LGSN', 'score': 0.07}]
chr6 GH06I063389 63389409 63392669 0.95 [{'connected_gene': 'GC06M063391', 'score': 550.77}, {'connected_gene': 'GC06M063390', 'score': 550.77}, {'connected_gene': 'GC06M063389', 'score': 550.77}, {'connected_gene': 'ENSG00000218617', 'score': 550.77}, {'connected_gene': 'LGSN', 'score': 0.1}]
chr6 GH06I063493 63493696 63493785 0.38 [{'connected_gene': 'GC06P063496', 'score': 0.77}, {'connected_gene': 'GC06P063483', 'score': 0.39}, {'connected_gene': 'LGSN', 'score': 0.19}]
chr6 GH06I063487 63487296 63487425 0.69 [{'connected_gene': 'GC06P063483', 'score': 0.77}, {'connected_gene': 'GC06P063496', 'score': 0.44}, {'connected_gene': 'LGSN', 'score': 0.18}]
chr6 GH06I063383 63383976 63384085 0.69 [{'connected_gene': 'GC06M063391', 'score': 0.44}, {'connected_gene': 'GC06M063390', 'score': 0.44}, {'connected_gene': 'GC06M063389', 'score': 0.44}, {'connected_gene': 'GC06M063310', 'score': 0.19}, {'connected_gene': 'LGSN', 'score': 0.09}]
chr6 GH06I063555 63555054 63556165 0.72 [{'connected_gene': 'GC06P063558', 'score': 0.77}, {'connected_gene': 'RPL7AP34', 'score': 0.44}, {'connected_gene': 'LGSN', 'score': 0.39}, {'connected_gene': 'PTP4A1', 'score': 0.29}]