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
ENST00000380881 [[14734663, 14737593], [14740146, 14740232], [14746350, 14746466], [14746920, 14747049], [14747261, 14747426], [14747678, 14747726], [14748398, 14748637], [14750124, 14750274], [14756371, 14756444], [14759769, 14759899], [14769721, 14769866], [14770602, 14770804], [14775786, 14776201], [14784367, 14784632], [14788916, 14789112], [14792740, 14792882], [14797495, 14797640], [14801649, 14801872], [14804953, 14805150], [14806658, 14806844], [14807937, 14808132], [14812809, 14813062], [14816775, 14816869], [14819231, 14819440], [14823157, 14823325], [14824022, 14824113], [14824793, 14824990], [14841444, 14841587], [14842313, 14842658], [14845957, 14846089], [14848662, 14848771], [14851281, 14851608], [14857550, 14857747], [14859180, 14859482], [14863806, 14863901], [14868741, 14869242], [14909911, 14910234], [14910767, 14910993]] [[14737393, 14737593], [14740146, 14740232], [14746350, 14746466], [14746920, 14747049], [14747261, 14747426], [14747678, 14747726], [14748398, 14748637], [14750124, 14750274], [14756371, 14756444], [14759769, 14759899], [14769721, 14769866], [14770602, 14770804], [14775786, 14776201], [14784367, 14784632], [14788916, 14789112], [14792740, 14792882], [14797495, 14797640], [14801649, 14801872], [14804953, 14805150], [14806658, 14806844], [14807937, 14808132], [14812809, 14813062], [14816775, 14816869], [14819231, 14819440], [14823157, 14823325], [14824022, 14824113], [14824793, 14824990], [14841444, 14841587], [14842313, 14842658], [14845957, 14846089], [14848662, 14848771], [14851281, 14851608], [14857550, 14857747], [14859180, 14859482], [14863806, 14863901], [14868741, 14868975]]
ENST00000422223 [[14734663, 14737593], [14740146, 14740232], [14746350, 14746466], [14746920, 14747049], [14747261, 14747426], [14747678, 14747726], [14748398, 14748637], [14750124, 14750274], [14756371, 14756444], [14759769, 14759899], [14769721, 14769866], [14770602, 14770804], [14775786, 14776201], [14784367, 14784632], [14788916, 14789112], [14792740, 14792882], [14797495, 14797640], [14801649, 14801872], [14804953, 14805150], [14806658, 14806844], [14807937, 14808132], [14812809, 14813062], [14816775, 14816869], [14819231, 14819440], [14823157, 14823325], [14824022, 14824113], [14824793, 14824990], [14841444, 14841587], [14842313, 14842658], [14845957, 14846089], [14848662, 14848771], [14851281, 14851605], [14857550, 14857747], [14859180, 14859482], [14863806, 14863901], [14868741, 14869242], [14909911, 14910234], [14910767, 14910993]] [[14737393, 14737593], [14740146, 14740232], [14746350, 14746466], [14746920, 14747049], [14747261, 14747426], [14747678, 14747726], [14748398, 14748637], [14750124, 14750274], [14756371, 14756444], [14759769, 14759899], [14769721, 14769866], [14770602, 14770804], [14775786, 14776201], [14784367, 14784632], [14788916, 14789112], [14792740, 14792882], [14797495, 14797640], [14801649, 14801872], [14804953, 14805150], [14806658, 14806844], [14807937, 14808132], [14812809, 14813062], [14816775, 14816869], [14819231, 14819440], [14823157, 14823325], [14824022, 14824113], [14824793, 14824990], [14841444, 14841587], [14842313, 14842658], [14845957, 14846089], [14848662, 14848771], [14851281, 14851605], [14857550, 14857747], [14859180, 14859482], [14863806, 14863901], [14868741, 14868975]]
ENST00000380875 [[14737197, 14737593], [14740146, 14740232], [14746350, 14746466], [14746920, 14747049], [14747261, 14747426], [14747678, 14747726], [14748398, 14748637], [14750124, 14750274], [14792740, 14792882], [14797495, 14797640], [14801649, 14801872], [14804953, 14805150], [14806658, 14806844], [14807937, 14808132], [14812809, 14813062], [14816775, 14816869], [14819231, 14819440], [14823157, 14823325], [14824022, 14824113], [14824793, 14824990], [14841444, 14841587], [14842313, 14842658], [14845957, 14846089], [14848662, 14848771], [14851281, 14851605], [14857550, 14857747], [14859180, 14859482], [14863806, 14863901], [14868741, 14869242], [14909911, 14910234], [14910767, 14910993]] [[14750247, 14750274], [14792740, 14792882], [14797495, 14797640], [14801649, 14801872], [14804953, 14805150], [14806658, 14806844], [14807937, 14808132], [14812809, 14813062], [14816775, 14816869], [14819231, 14819440], [14823157, 14823325], [14824022, 14824113], [14824793, 14824990], [14841444, 14841587], [14842313, 14842658], [14845957, 14846089], [14848662, 14848771], [14851281, 14851605], [14857550, 14857747], [14859180, 14859482], [14863806, 14863901], [14868741, 14868975]]
ENST00000380880 [[14737393, 14737593], [14740146, 14740232], [14746350, 14746466], [14746920, 14747049], [14747261, 14747426], [14747678, 14747726], [14748398, 14748637], [14750124, 14750274], [14756371, 14756444], [14759769, 14759899], [14769721, 14769866], [14770602, 14770804], [14775786, 14776201], [14784367, 14784632], [14788916, 14789112], [14792740, 14792882], [14797495, 14797640], [14801649, 14801872], [14804953, 14805150], [14806658, 14806844], [14807937, 14808132], [14812809, 14813062], [14816775, 14816869], [14819231, 14819440], [14823157, 14823325], [14824022, 14824113], [14824793, 14824990], [14841444, 14841587], [14842313, 14842658], [14845957, 14846089], [14848662, 14848771], [14851281, 14851605], [14857550, 14857747], [14859180, 14859482], [14863806, 14863901], [14868741, 14869242], [14909911, 14910428]] [[14737393, 14737593], [14740146, 14740232], [14746350, 14746466], [14746920, 14747049], [14747261, 14747426], [14747678, 14747726], [14748398, 14748637], [14750124, 14750274], [14756371, 14756444], [14759769, 14759899], [14769721, 14769866], [14770602, 14770804], [14775786, 14776201], [14784367, 14784632], [14788916, 14789112], [14792740, 14792882], [14797495, 14797640], [14801649, 14801872], [14804953, 14805150], [14806658, 14806844], [14807937, 14808132], [14812809, 14813062], [14816775, 14816869], [14819231, 14819440], [14823157, 14823325], [14824022, 14824113], [14824793, 14824990], [14841444, 14841587], [14842313, 14842658], [14845957, 14846089], [14848662, 14848771], [14851281, 14851605], [14857550, 14857747], [14859180, 14859482], [14863806, 14863901], [14868741, 14868975]]
ENST00000380894 [[14737149, 14737593], [14740146, 14740232], [14746350, 14746466], [14746920, 14747049], [14747261, 14747426], [14747678, 14747726], [14748398, 14748637], [14750124, 14750274], [14756371, 14756444], [14759769, 14759899], [14769721, 14769866], [14770602, 14770804], [14775786, 14776254], [14779445, 14779531]] [[14737393, 14737593], [14740146, 14740232], [14746350, 14746466], [14746920, 14747049], [14747261, 14747426], [14747678, 14747726], [14748398, 14748637], [14750124, 14750274], [14756371, 14756444], [14759769, 14759899], [14769721, 14769866], [14770602, 14770804], [14775786, 14776251]]
ENST00000427623 [[14737363, 14737593], [14740146, 14740232], [14746350, 14746466], [14746920, 14747049], [14747261, 14747426], [14747678, 14747726], [14756371, 14756444], [14759769, 14759899], [14769721, 14769866], [14770602, 14770804], [14774062, 14774159]] [[14747703, 14747726], [14756371, 14756444], [14759769, 14759899], [14769721, 14769866], [14770602, 14770804]]
ENST00000486223 [[14751702, 14751850], [14756371, 14756444], [14759769, 14759899], [14769721, 14769866], [14770602, 14770804], [14775786, 14775903]] None
ENST00000485068 [[14775820, 14776254], [14784367, 14784632]] None
ENST00000466679 [[14775932, 14776201], [14784367, 14784632], [14788916, 14789064], [14792740, 14792799]] None
ENST00000497634 [[14784269, 14784632], [14788916, 14789112], [14792740, 14792882]] None
NM_144966 [[14734663, 14737593], [14740146, 14740232], [14746350, 14746466], [14746920, 14747049], [14747261, 14747426], [14747678, 14747726], [14748398, 14748637], [14750124, 14750274], [14756371, 14756444], [14759769, 14759899], [14769721, 14769866], [14770602, 14770804], [14775786, 14776201], [14784367, 14784632], [14788916, 14789112], [14792740, 14792882], [14797495, 14797640], [14801649, 14801872], [14804953, 14805150], [14806658, 14806844], [14807937, 14808132], [14812809, 14813062], [14816775, 14816869], [14819231, 14819440], [14823157, 14823325], [14824022, 14824113], [14824793, 14824990], [14841444, 14841587], [14842313, 14842658], [14845957, 14846089], [14848662, 14848771], [14851281, 14851605], [14857550, 14857747], [14859180, 14859482], [14863806, 14863901], [14868741, 14869242], [14909911, 14910234], [14910767, 14910993]] [[14737393, 14737593], [14740146, 14740232], [14746350, 14746466], [14746920, 14747049], [14747261, 14747426], [14747678, 14747726], [14748398, 14748637], [14750124, 14750274], [14756371, 14756444], [14759769, 14759899], [14769721, 14769866], [14770602, 14770804], [14775786, 14776201], [14784367, 14784632], [14788916, 14789112], [14792740, 14792882], [14797495, 14797640], [14801649, 14801872], [14804953, 14805150], [14806658, 14806844], [14807937, 14808132], [14812809, 14813062], [14816775, 14816869], [14819231, 14819440], [14823157, 14823325], [14824022, 14824113], [14824793, 14824990], [14841444, 14841587], [14842313, 14842658], [14845957, 14846089], [14848662, 14848771], [14851281, 14851605], [14857550, 14857747], [14859180, 14859482], [14863806, 14863901], [14868741, 14868975]]
NM_001177704 [[14734663, 14737593], [14740146, 14740232], [14746350, 14746466], [14746920, 14747049], [14747261, 14747426], [14747678, 14747726], [14748398, 14748637], [14750124, 14750274], [14756371, 14756444], [14759769, 14759899], [14769721, 14769866], [14770602, 14770804], [14775786, 14776254], [14779445, 14779531]] [[14737393, 14737593], [14740146, 14740232], [14746350, 14746466], [14746920, 14747049], [14747261, 14747426], [14747678, 14747726], [14748398, 14748637], [14750124, 14750274], [14756371, 14756444], [14759769, 14759899], [14769721, 14769866], [14770602, 14770804], [14775786, 14776251]]
Promoter
Chrom Start End Description
chr9 14868857 14868868 CAGE_peak_15_at_FREM1_5end
chr9 14868978 14869003 CAGE_peak_7_at_FREM1_5end
chr9 14869009 14869025 CAGE_peak_8_at_FREM1_5end
chr9 14869205 14869217 CAGE_peak_17_at_FREM1_5end
chr9 14869264 14869271 CAGE_peak_27_at_FREM1_5end
chr9 14909966 14909990 CAGE_peak_1_at_FREM1_5end
chr9 14909994 14910006 CAGE_peak_6_at_FREM1_5end
chr9 14910193 14910208 CAGE_peak_4_at_FREM1_5end
chr9 14910219 14910242 CAGE_peak_5_at_FREM1_5end
chr9 14910246 14910280 CAGE_peak_3_at_FREM1_5end
chr9 14910342 14910355 CAGE_peak_12_at_FREM1_5end
chr9 14910387 14910398 CAGE_peak_10_at_FREM1_5end
chr9 14910411 14910418 CAGE_peak_14_at_FREM1_5end
chr9 14910420 14910434 CAGE_peak_2_at_FREM1_5end
chr9 14910449 14910466 CAGE_peak_9_at_FREM1_5end
chr9 14910480 14910497 CAGE_peak_11_at_FREM1_5end
chr9 14910922 14910928 CAGE_peak_24_at_FREM1_5end
chr9 14910957 14910964 CAGE_peak_23_at_FREM1_5end
chr9 14910990 14910995 CAGE_peak_25_at_FREM1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I014814 14813465 14813791 0.22 [{'connected_gene': 'NFIB', 'score': 1.25}, {'connected_gene': 'LOC105375979', 'score': 0.29}, {'connected_gene': 'GC09P014850', 'score': 0.28}, {'connected_gene': 'FREM1', 'score': 0.15}]
chr9 GH09I014980 14980693 14982711 0.2 [{'connected_gene': 'LOC389705', 'score': 19.01}, {'connected_gene': 'FREM1', 'score': 7.46}, {'connected_gene': 'LOC105375980', 'score': 0.39}, {'connected_gene': 'GC09M014955', 'score': 0.31}, {'connected_gene': 'GC09M014956', 'score': 0.31}, {'connected_gene': 'PIR32025', 'score': 0.31}, {'connected_gene': 'GC09M014957', 'score': 0.31}]
chr9 GH09I014749 14749646 14753043 0.31 [{'connected_gene': 'ZDHHC21', 'score': 15.94}, {'connected_gene': 'CER1', 'score': 11.07}, {'connected_gene': 'LOC105375979', 'score': 0.31}, {'connected_gene': 'FREM1', 'score': 0.1}]
chr9 GH09I014768 14768401 14768853 0.76 [{'connected_gene': 'ZDHHC21', 'score': 10.93}, {'connected_gene': 'RNU6-1260P', 'score': 10.48}, {'connected_gene': 'LOC105375979', 'score': 0.39}, {'connected_gene': 'CER1', 'score': 0.25}, {'connected_gene': 'FREM1', 'score': 0.11}]
chr9 GH09I014745 14745670 14747901 0.38 [{'connected_gene': 'CER1', 'score': 19.54}, {'connected_gene': 'ZDHHC21', 'score': 7.08}, {'connected_gene': 'ENSG00000272871', 'score': 4.97}, {'connected_gene': 'LOC105375979', 'score': 0.29}, {'connected_gene': 'FREM1', 'score': 0.1}]
chr9 GH09I014934 14934625 14937221 0.56 [{'connected_gene': 'FREM1', 'score': 15.79}, {'connected_gene': 'LOC389705', 'score': 12.09}, {'connected_gene': 'LDHAP4', 'score': 0.39}, {'connected_gene': 'GC09M014955', 'score': 0.37}, {'connected_gene': 'GC09M014956', 'score': 0.37}, {'connected_gene': 'PIR32025', 'score': 0.37}, {'connected_gene': 'GC09M014957', 'score': 0.37}]
chr9 GH09I014868 14868816 14869522 0.88 [{'connected_gene': 'FREM1', 'score': 6.5}, {'connected_gene': 'ZDHHC21', 'score': 4.84}, {'connected_gene': 'RNU6-1260P', 'score': 0.37}]
chr9 GH09I015085 15085434 15087596 0.46 [{'connected_gene': 'FREM1', 'score': 9.94}, {'connected_gene': 'TTC39B', 'score': 5.07}, {'connected_gene': 'PSIP1P1', 'score': 0.29}, {'connected_gene': 'RNU6-559P', 'score': 0.22}, {'connected_gene': 'CLCN3P1', 'score': 0.22}]
chr9 GH09I014906 14906075 14911426 2.09 [{'connected_gene': 'FREM1', 'score': 550.77}, {'connected_gene': 'RNU6-1260P', 'score': 10.9}, {'connected_gene': 'LOC389705', 'score': 9.42}]
chr9 GH09I014888 14888203 14888715 0.43 [{'connected_gene': 'FREM1', 'score': 18.11}, {'connected_gene': 'RNU6-1260P', 'score': 11.25}]
chr9 GH09I014846 14846883 14847032 0.56 [{'connected_gene': 'FREM1', 'score': 5.97}, {'connected_gene': 'GC09P014850', 'score': 0.77}, {'connected_gene': 'LOC105375979', 'score': 0.2}]
chr9 GH09I015146 15146903 15147028 0.33 [{'connected_gene': 'LOC105375981', 'score': 550.77}, {'connected_gene': 'CLCN3P1', 'score': 550.77}, {'connected_gene': 'PSIP1', 'score': 1.25}, {'connected_gene': 'FREM1', 'score': 1.16}]
chr9 GH09I014778 14778864 14781029 1.1 [{'connected_gene': 'LOC105375979', 'score': 550.77}, {'connected_gene': 'FREM1', 'score': 550.12}, {'connected_gene': 'GC09P014850', 'score': 0.19}]
chr9 GH09I014813 14813801 14814000 0.2 [{'connected_gene': 'LOC105375979', 'score': 0.29}, {'connected_gene': 'GC09P014850', 'score': 0.28}, {'connected_gene': 'FREM1', 'score': 0.15}]