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
ENST00000307471 [[23636997, 23637224], [23637585, 23637670], [23650789, 23651172], [23682549, 23684327]] [[23650934, 23651172], [23682549, 23682734]]
ENST00000484553 [[23637034, 23637224], [23637585, 23637670], [23641489, 23641839]] None
ENST00000409765 [[23637060, 23637224], [23650789, 23651172], [23682549, 23684326]] [[23650934, 23651172], [23682549, 23682734]]
ENST00000448353 [[23637133, 23637224], [23637585, 23637670], [23643704, 23643898], [23650789, 23651172], [23682549, 23682643]] [[23650934, 23651172], [23682549, 23682643]]
ENST00000485233 [[23637341, 23637670], [23650789, 23651127]] None
ENST00000472407 [[23637456, 23637670], [23643704, 23643898], [23650789, 23651172], [23682549, 23682555]] None
ENST00000410069 [[23637779, 23637841], [23643760, 23643898], [23650789, 23651172], [23682549, 23682856]] [[23650934, 23651172], [23682549, 23682734]]
ENST00000486109 [[23637910, 23638137], [23643704, 23643898], [23650789, 23651168]] None
NM_138771 [[23636997, 23637224], [23637585, 23637670], [23650789, 23651172], [23682549, 23684327]] [[23650934, 23651172], [23682549, 23682734]]
Promoter
Chrom Start End Description
chr7 23636992 23637074 CAGE_peak_1_at_CCDC126_5end
chr7 23637079 23637093 CAGE_peak_4_at_CCDC126_5end
chr7 23637118 23637129 CAGE_peak_5_at_CCDC126_5end
chr7 23637173 23637184 CAGE_peak_6_at_CCDC126_5end
chr7 23637335 23637356 CAGE_peak_2_at_CCDC126_5end
chr7 23637357 23637368 CAGE_peak_7_at_CCDC126_5end
chr7 23637763 23637771 CAGE_peak_14_at_CCDC126_5end
chr7 23650863 23650867 CAGE_peak_3_at_CCDC126_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I023544 23544982 23545151 0.75 [{'connected_gene': 'CCDC126', 'score': 4.6}, {'connected_gene': 'GC07P023532', 'score': 0.39}, {'connected_gene': 'LOC442517', 'score': 0.37}]
chr7 GH07I023570 23570702 23571031 0.97 [{'connected_gene': 'CCDC126', 'score': 12.89}, {'connected_gene': 'FAM221A', 'score': 7.68}, {'connected_gene': 'LOC442517', 'score': 0.44}, {'connected_gene': 'CLK2P1', 'score': 0.37}]
chr7 GH07I023430 23430201 23432832 1.11 [{'connected_gene': 'CCDC126', 'score': 5.81}, {'connected_gene': 'GC07M023312', 'score': 0.77}, {'connected_gene': 'RNU7-143P', 'score': 0.37}, {'connected_gene': 'IGF2BP3', 'score': 0.28}]
chr7 GH07I023596 23596762 23599493 2.05 [{'connected_gene': 'CCDC126', 'score': 568.94}, {'connected_gene': 'LOC105375187', 'score': 550.77}, {'connected_gene': 'FAM221A', 'score': 9.03}, {'connected_gene': 'FCF1P1', 'score': 0.34}]
chr7 GH07I023461 23461940 23462324 0.38 [{'connected_gene': 'CCDC126', 'score': 4.56}, {'connected_gene': 'KLHL7-AS1', 'score': 4.17}, {'connected_gene': 'IGF2BP3', 'score': 2.01}, {'connected_gene': 'NUPL2', 'score': 1.38}, {'connected_gene': 'GC07P023450', 'score': 0.39}]
chr7 GH07I023628 23628196 23628860 0.69 [{'connected_gene': 'CCDC126', 'score': 16.9}, {'connected_gene': 'FCF1P1', 'score': 0.44}, {'connected_gene': 'ENSG00000228953', 'score': 0.31}]
chr7 GH07I023011 23011589 23014941 2 [{'connected_gene': 'FAM126A', 'score': 565.68}, {'connected_gene': 'CLK2P1', 'score': 21.68}, {'connected_gene': 'CCDC126', 'score': 15.67}, {'connected_gene': 'TOMM7', 'score': 6.78}, {'connected_gene': 'LOC541472', 'score': 6.75}, {'connected_gene': 'ENSG00000226329', 'score': 5.37}, {'connected_gene': 'PIR51294', 'score': 0.15}]
chr7 GH07I023662 23662119 23663435 0.38 [{'connected_gene': 'STK31', 'score': 4.61}, {'connected_gene': 'CCDC126', 'score': 4.57}, {'connected_gene': 'ENSG00000228953', 'score': 0.44}, {'connected_gene': 'FAM221A', 'score': 0.37}]
chr7 GH07I022780 22780913 22782683 0.71 [{'connected_gene': 'TOMM7', 'score': 16.18}, {'connected_gene': 'CLK2P1', 'score': 11.66}, {'connected_gene': 'TRA2A', 'score': 10.68}, {'connected_gene': 'SNHG26', 'score': 10.37}, {'connected_gene': 'CCDC126', 'score': 9.87}, {'connected_gene': 'RPS26P32', 'score': 0.44}, {'connected_gene': 'GC07M022788', 'score': 0.39}]
chr7 GH07I022782 22782722 22782891 0.67 [{'connected_gene': 'TOMM7', 'score': 15.44}, {'connected_gene': 'CLK2P1', 'score': 11.66}, {'connected_gene': 'TRA2A', 'score': 10.68}, {'connected_gene': 'SNHG26', 'score': 10.37}, {'connected_gene': 'CCDC126', 'score': 9.87}, {'connected_gene': 'RPS26P32', 'score': 0.44}, {'connected_gene': 'GC07M022788', 'score': 0.39}]
chr7 GH07I023297 23297578 23300997 2.05 [{'connected_gene': 'MALSU1', 'score': 550.77}, {'connected_gene': 'KLHL7-AS1', 'score': 31.92}, {'connected_gene': 'CLK2P1', 'score': 22.23}, {'connected_gene': 'TRA2A', 'score': 19.49}, {'connected_gene': 'CCDC126', 'score': 9.9}, {'connected_gene': 'ENSG00000232627', 'score': 0.2}]
chr7 GH07I023485 23485712 23487108 0.54 [{'connected_gene': 'RNU7-143P', 'score': 11.49}, {'connected_gene': 'CCDC126', 'score': 4.23}, {'connected_gene': 'RPS2P32', 'score': 0.77}, {'connected_gene': 'GC07P023480', 'score': 0.44}]
chr7 GH07I023462 23462744 23475994 2.88 [{'connected_gene': 'IGF2BP3', 'score': 557.78}, {'connected_gene': 'EEF1A1P6', 'score': 11.67}, {'connected_gene': 'TRA2A', 'score': 9.99}, {'connected_gene': 'CCDC126', 'score': 4.71}, {'connected_gene': 'KLHL7-AS1', 'score': 4.25}, {'connected_gene': 'NUPL2', 'score': 3.75}, {'connected_gene': 'MALSU1', 'score': 1.76}, {'connected_gene': 'GC07P023450', 'score': 0.37}]
chr7 GH07I023722 23722781 23723181 0.69 [{'connected_gene': 'PCMTD1P3', 'score': 550.77}, {'connected_gene': 'STK31', 'score': 42.05}, {'connected_gene': 'CLK2P1', 'score': 11.75}, {'connected_gene': 'TRA2A', 'score': 10.74}, {'connected_gene': 'CCDC126', 'score': 9.97}, {'connected_gene': 'TPT1P7', 'score': 0.17}]
chr7 GH07I023655 23655068 23655320 0.33 [{'connected_gene': 'ENSG00000228953', 'score': 550.77}, {'connected_gene': 'CCDC126', 'score': 5.07}, {'connected_gene': 'FAM221A', 'score': 4.83}, {'connected_gene': 'FCF1P1', 'score': 0.28}]