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
ENST00000348222 [[74153952, 74154179], [74166036, 74166149], [74173845, 74174033], [74185272, 74185372], [74185836, 74186088]] [[74154037, 74154179], [74166036, 74166149], [74173845, 74174033], [74185272, 74185372], [74185836, 74185863]]
ENST00000264093 [[74153952, 74154179], [74166036, 74166149], [74173845, 74174033], [74177711, 74177859], [74184251, 74184367], [74185272, 74185372], [74185836, 74186088]] [[74154037, 74154179], [74166036, 74166149], [74173845, 74174033], [74177711, 74177859], [74184251, 74184367], [74185272, 74185372], [74185836, 74185863]]
ENST00000418996 [[74154001, 74154179], [74173845, 74174033], [74185272, 74185372], [74185836, 74186073]] [[74154037, 74154179], [74173845, 74173973]]
ENST00000462551 [[74154019, 74154179], [74173845, 74174258]] None
ENST00000489796 [[74154020, 74154179], [74166036, 74166149], [74173845, 74174033], [74177727, 74177859], [74185272, 74185372]] None
ENST00000462685 [[74154023, 74154179], [74159724, 74159810], [74173845, 74174033], [74177753, 74177859], [74185272, 74185372], [74185836, 74185915]] None
ENST00000493055 [[74154034, 74154179], [74166036, 74166149], [74173845, 74174180]] None
ENST00000356837 [[74154034, 74154179], [74159724, 74159771], [74173845, 74174033], [74177711, 74177859], [74184251, 74184367], [74185272, 74185372], [74185836, 74186073]] [[74154037, 74154179], [74159724, 74159771], [74173845, 74174033], [74177711, 74177859], [74184251, 74184367], [74185272, 74185372], [74185836, 74185863]]
NR_134895 [[74153952, 74154179], [74185272, 74185372], [74185836, 74186088]] None
NR_134896 [[74153952, 74154179], [74173845, 74174015], [74185272, 74185372], [74185836, 74186088]] None
NM_001318863 [[74153952, 74154179], [74173845, 74174015], [74177711, 74177859], [74184251, 74184367], [74185272, 74185372], [74185836, 74186088]] [[74173881, 74174015], [74177711, 74177859], [74184251, 74184367], [74185272, 74185372], [74185836, 74185863]]
NR_134893 [[74153952, 74154179], [74173845, 74174033], [74185272, 74185372], [74185836, 74186088]] None
NR_134898 [[74153952, 74154179], [74173845, 74174033], [74184251, 74184367], [74185272, 74185372], [74185836, 74186088]] None
NR_134894 [[74153952, 74154179], [74173845, 74174033], [74177711, 74177859], [74185272, 74185372], [74185836, 74186088]] None
NM_001318860 [[74153952, 74154179], [74173845, 74174033], [74177711, 74177859], [74184251, 74184367], [74185272, 74185372], [74185836, 74186088]] [[74173881, 74174033], [74177711, 74177859], [74184251, 74184367], [74185272, 74185372], [74185836, 74185863]]
NM_001318859 [[74153952, 74154179], [74166036, 74166149], [74173845, 74174015], [74185272, 74185372], [74185836, 74186088]] [[74154037, 74154179], [74166036, 74166149], [74173845, 74174015], [74185272, 74185372], [74185836, 74185863]]
NM_080918 [[74153952, 74154179], [74166036, 74166149], [74173845, 74174033], [74185272, 74185372], [74185836, 74186088]] [[74154037, 74154179], [74166036, 74166149], [74173845, 74174033], [74185272, 74185372], [74185836, 74185863]]
NM_080916 [[74153952, 74154179], [74166036, 74166149], [74173845, 74174033], [74177711, 74177859], [74184251, 74184367], [74185272, 74185372], [74185836, 74186088]] [[74154037, 74154179], [74166036, 74166149], [74173845, 74174033], [74177711, 74177859], [74184251, 74184367], [74185272, 74185372], [74185836, 74185863]]
NM_001318862 [[74153952, 74154179], [74159724, 74159810], [74173845, 74174015], [74177711, 74177859], [74184251, 74184367], [74185272, 74185372], [74185836, 74186088]] [[74173881, 74174015], [74177711, 74177859], [74184251, 74184367], [74185272, 74185372], [74185836, 74185863]]
NR_134897 [[74153952, 74154179], [74159724, 74159810], [74173845, 74174033], [74177753, 74177859], [74185272, 74185372], [74185836, 74186088]] None
NM_001318861 [[74153952, 74154179], [74159724, 74159810], [74173845, 74174033], [74177711, 74177859], [74184251, 74184367], [74185272, 74185372], [74185836, 74186088]] [[74173881, 74174033], [74177711, 74177859], [74184251, 74184367], [74185272, 74185372], [74185836, 74185863]]
Promoter
Chrom Start End Description
chr2 74153986 74154029 CAGE_peak_1_at_DGUOK_5end
chr2 74154032 74154067 CAGE_peak_2_at_DGUOK_5end
chr2 74154077 74154088 CAGE_peak_3_at_DGUOK_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I073931 73931549 73932992 0.83 [{'connected_gene': 'ACTG2', 'score': 10.7}, {'connected_gene': 'TET3', 'score': 10.48}, {'connected_gene': 'BOLA3', 'score': 9.77}, {'connected_gene': 'BOLA3-AS1', 'score': 9.77}, {'connected_gene': 'LOC107985899', 'score': 9.76}, {'connected_gene': 'DGUOK', 'score': 0.44}, {'connected_gene': 'GC02M073969', 'score': 0.28}]
chr2 GH02I073869 73869778 73871177 0.78 [{'connected_gene': 'ACTG2', 'score': 12.87}, {'connected_gene': 'DGUOK', 'score': 11.45}, {'connected_gene': 'BOLA3', 'score': 10.19}, {'connected_gene': 'BOLA3-AS1', 'score': 10.19}, {'connected_gene': 'STAMBP', 'score': 8.19}, {'connected_gene': 'HTRA2', 'score': 4.21}, {'connected_gene': 'LOC100420774', 'score': 0.44}, {'connected_gene': 'LOC105374806', 'score': 0.39}]
chr2 GH02I073921 73921314 73921463 0.96 [{'connected_gene': 'ACTG2', 'score': 11.46}, {'connected_gene': 'STAMBP', 'score': 11.32}, {'connected_gene': 'BOLA3', 'score': 10.23}, {'connected_gene': 'BOLA3-AS1', 'score': 10.23}, {'connected_gene': 'GC02M073905', 'score': 0.44}, {'connected_gene': 'DGUOK', 'score': 0.44}]
chr2 GH02I073892 73892168 73895330 1.69 [{'connected_gene': 'ACTG2', 'score': 562.36}, {'connected_gene': 'STAMBP', 'score': 15.71}, {'connected_gene': 'DGUOK', 'score': 11.42}, {'connected_gene': 'TET3', 'score': 10.43}, {'connected_gene': 'BOLA3', 'score': 10.22}, {'connected_gene': 'BOLA3-AS1', 'score': 10.22}, {'connected_gene': 'TPRKB', 'score': 9.75}, {'connected_gene': 'HTRA2', 'score': 5.62}, {'connected_gene': 'MOB1A', 'score': 4.9}, {'connected_gene': 'ALMS1', 'score': 4.55}, {'connected_gene': 'GC02M073905', 'score': 0.37}]
chr2 GH02I073934 73934996 73936946 0.2 [{'connected_gene': 'TET3', 'score': 11.47}, {'connected_gene': 'ACTG2', 'score': 10.66}, {'connected_gene': 'BOLA3', 'score': 10.05}, {'connected_gene': 'BOLA3-AS1', 'score': 10.05}, {'connected_gene': 'STAMBP', 'score': 10.04}, {'connected_gene': 'DGUOK-AS1', 'score': 4.34}, {'connected_gene': 'DGUOK', 'score': 0.44}, {'connected_gene': 'GC02M073969', 'score': 0.29}]
chr2 GH02I074055 74055644 74057465 0.31 [{'connected_gene': 'TET3', 'score': 11.92}, {'connected_gene': 'BOLA3', 'score': 10.62}, {'connected_gene': 'BOLA3-AS1', 'score': 10.62}, {'connected_gene': 'DGUOK', 'score': 10.26}, {'connected_gene': 'ACTG2', 'score': 10.01}, {'connected_gene': 'RTKN', 'score': 9.02}, {'connected_gene': 'DGUOK-AS1', 'score': 7.24}, {'connected_gene': 'ENSG00000279181', 'score': 0.22}, {'connected_gene': 'FNBP1P1', 'score': 0.21}]
chr2 GH02I073925 73925266 73928800 2.51 [{'connected_gene': 'DGUOK', 'score': 550.77}, {'connected_gene': 'ACTG2', 'score': 11.44}, {'connected_gene': 'STAMBP', 'score': 11.32}, {'connected_gene': 'BOLA3', 'score': 10.23}, {'connected_gene': 'BOLA3-AS1', 'score': 10.23}, {'connected_gene': 'DGUOK-AS1', 'score': 4.95}, {'connected_gene': 'GC02M073969', 'score': 0.26}]
chr2 GH02I073926 73925074 73925223 0.31 [{'connected_gene': 'DGUOK', 'score': 550.77}, {'connected_gene': 'ACTG2', 'score': 11.44}, {'connected_gene': 'STAMBP', 'score': 11.32}, {'connected_gene': 'BOLA3', 'score': 10.23}, {'connected_gene': 'BOLA3-AS1', 'score': 10.23}, {'connected_gene': 'GC02M073905', 'score': 0.39}]
chr2 GH02I073962 73962562 73964942 0.78 [{'connected_gene': 'DGUOK', 'score': 16.33}, {'connected_gene': 'BOLA3', 'score': 10.47}, {'connected_gene': 'BOLA3-AS1', 'score': 10.47}, {'connected_gene': 'ACTG2', 'score': 10.11}, {'connected_gene': 'GC02M073969', 'score': 0.77}, {'connected_gene': 'DGUOK-AS1', 'score': 0.37}]
chr2 GH02I073895 73895934 73897655 1.05 [{'connected_gene': 'DGUOK', 'score': 11.42}, {'connected_gene': 'TET3', 'score': 10.43}, {'connected_gene': 'STAMBP', 'score': 10.32}, {'connected_gene': 'BOLA3', 'score': 10.22}, {'connected_gene': 'BOLA3-AS1', 'score': 10.22}, {'connected_gene': 'TPRKB', 'score': 9.75}, {'connected_gene': 'ALMS1-IT1', 'score': 4.64}, {'connected_gene': 'SMYD5', 'score': 4.28}, {'connected_gene': 'ACTG2', 'score': 0.77}, {'connected_gene': 'GC02M073905', 'score': 0.37}]
chr2 GH02I073937 73937594 73940540 0.69 [{'connected_gene': 'DGUOK', 'score': 6.64}, {'connected_gene': 'GC02M073969', 'score': 0.31}]
chr2 GH02I073911 73911107 73918479 0.56 [{'connected_gene': 'LOC107985899', 'score': 5.01}, {'connected_gene': 'ALMS1P1', 'score': 3.97}, {'connected_gene': 'GC02M073905', 'score': 0.77}, {'connected_gene': 'DGUOK', 'score': 0.39}, {'connected_gene': 'ACTG2', 'score': 0.34}]
chr2 GH02I073947 73947716 73950000 0.92 [{'connected_gene': 'DGUOK-AS1', 'score': 4.37}, {'connected_gene': 'GC02M073969', 'score': 0.37}, {'connected_gene': 'DGUOK', 'score': 0.34}]
chr2 GH02I073877 73877201 73878000 0.84 [{'connected_gene': 'LOC100420774', 'score': 550.77}, {'connected_gene': 'STAMBP', 'score': 16.72}, {'connected_gene': 'DGUOK', 'score': 11.25}, {'connected_gene': 'TET3', 'score': 10.72}, {'connected_gene': 'BOLA3', 'score': 9.87}, {'connected_gene': 'BOLA3-AS1', 'score': 9.87}, {'connected_gene': 'ACTG2', 'score': 0.39}]
chr2 GH02I073952 73952481 73953000 0.92 [{'connected_gene': 'GC02M073969', 'score': 0.37}, {'connected_gene': 'DGUOK', 'score': 0.31}, {'connected_gene': 'DGUOK-AS1', 'score': 0.31}]
chr2 GH02I073957 73957683 73959338 0.2 [{'connected_gene': 'GC02M073969', 'score': 0.44}, {'connected_gene': 'DGUOK-AS1', 'score': 0.34}, {'connected_gene': 'DGUOK', 'score': 0.29}]