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
ENST00000264198 [[20825942, 20827912], [20828561, 20828682], [20829714, 20829802], [20834397, 20834654]] [[20827182, 20827912], [20828561, 20828682], [20829714, 20829802], [20834397, 20834517]]
NM_024544 [[20825940, 20827912], [20828561, 20828682], [20829714, 20829802], [20834397, 20834674]] [[20827182, 20827912], [20828561, 20828682], [20829714, 20829802], [20834397, 20834517]]
Promoter
Chrom Start End Description
chr1 20834552 20834572 CAGE_peak_2_at_MUL1_5end
chr1 20834586 20834656 CAGE_peak_1_at_MUL1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I020587 20587400 20588001 1.16 [{'connected_gene': 'CDA', 'score': 555.09}, {'connected_gene': 'MUL1', 'score': 4.89}, {'connected_gene': 'FAM43B', 'score': 0.28}]
chr1 GH01I020588 20588261 20591800 1.75 [{'connected_gene': 'CDA', 'score': 577.98}, {'connected_gene': 'PINK1', 'score': 17.89}, {'connected_gene': 'FAM43B', 'score': 11.22}, {'connected_gene': 'MUL1', 'score': 9.99}, {'connected_gene': 'GC01P020619', 'score': 0.31}]
chr1 GH01I020507 20507049 20508876 2.05 [{'connected_gene': 'MUL1', 'score': 596.79}, {'connected_gene': 'NBPF3', 'score': 11.34}, {'connected_gene': 'HP1BP3', 'score': 9.71}, {'connected_gene': 'FAM43B', 'score': 7.4}, {'connected_gene': 'GC01M020501', 'score': 0.44}, {'connected_gene': 'PIR53014', 'score': 0.44}]
chr1 GH01I020464 20464729 20466480 0.43 [{'connected_gene': 'MUL1', 'score': 40.38}, {'connected_gene': 'CAMK2N1', 'score': 11.68}, {'connected_gene': 'FAM43B', 'score': 9.91}, {'connected_gene': 'ENSG00000284641', 'score': 0.39}, {'connected_gene': 'LINC01141', 'score': 0.29}]
chr1 GH01I020461 20461141 20463799 0.52 [{'connected_gene': 'MUL1', 'score': 29.88}, {'connected_gene': 'CAMK2N1', 'score': 11.55}, {'connected_gene': 'VWA5B1', 'score': 10.5}, {'connected_gene': 'ENSG00000284641', 'score': 0.39}, {'connected_gene': 'LINC01141', 'score': 0.29}]
chr1 GH01I020469 20469622 20471324 0.67 [{'connected_gene': 'MUL1', 'score': 19.64}, {'connected_gene': 'HP1BP3', 'score': 13.54}, {'connected_gene': 'ENSG00000226664', 'score': 9.92}, {'connected_gene': 'NBPF3', 'score': 9.75}, {'connected_gene': 'FAM43B', 'score': 9.71}, {'connected_gene': 'ENSG00000284641', 'score': 0.44}, {'connected_gene': 'LINC01141', 'score': 0.28}]
chr1 GH01I020447 20447071 20447527 0.38 [{'connected_gene': 'MUL1', 'score': 25.99}, {'connected_gene': 'LINC01141', 'score': 0.37}, {'connected_gene': 'ENSG00000284641', 'score': 0.31}]
chr1 GH01I020472 20472748 20473854 1.09 [{'connected_gene': 'MUL1', 'score': 11.44}, {'connected_gene': 'ENSG00000226664', 'score': 9.91}, {'connected_gene': 'ENSG00000284641', 'score': 0.77}, {'connected_gene': 'LINC01141', 'score': 0.26}]
chr1 GH01I020420 20420479 20422984 0.2 [{'connected_gene': 'MUL1', 'score': 10.52}, {'connected_gene': 'LINC01141', 'score': 0.44}, {'connected_gene': 'ENSG00000226487', 'score': 0.44}]
chr1 GH01I020488 20488130 20489239 0.31 [{'connected_gene': 'MUL1', 'score': 10.08}, {'connected_gene': 'FAM43B', 'score': 6.97}, {'connected_gene': 'CAMK2N1', 'score': 0.77}, {'connected_gene': 'GC01M020501', 'score': 0.39}, {'connected_gene': 'PIR53014', 'score': 0.39}]
chr1 GH01I020575 20575348 20575517 1.13 [{'connected_gene': 'PINK1', 'score': 12.29}, {'connected_gene': 'CDA', 'score': 11.8}, {'connected_gene': 'MUL1', 'score': 10.73}, {'connected_gene': 'FAM43B', 'score': 0.34}]
chr1 GH01I020576 20576448 20576597 0.31 [{'connected_gene': 'PINK1', 'score': 12.29}, {'connected_gene': 'MUL1', 'score': 10.73}, {'connected_gene': 'CDA', 'score': 0.39}, {'connected_gene': 'FAM43B', 'score': 0.34}]
chr1 GH01I020678 20678601 20679200 0.69 [{'connected_gene': 'PINK1', 'score': 11.41}, {'connected_gene': 'SH2D5', 'score': 11.12}, {'connected_gene': 'ENSG00000233069', 'score': 11.12}, {'connected_gene': 'CDA', 'score': 9.63}, {'connected_gene': 'MUL1', 'score': 6.22}, {'connected_gene': 'DDOST', 'score': 0.37}, {'connected_gene': 'ENSG00000235432', 'score': 0.37}, {'connected_gene': 'KIF17', 'score': 0.28}]
chr1 GH01I020109 20109772 20111517 0.73 [{'connected_gene': 'PLA2G2F', 'score': 12.08}, {'connected_gene': 'PLA2G2C', 'score': 10.81}, {'connected_gene': 'MUL1', 'score': 9.7}, {'connected_gene': 'UBXN10', 'score': 5.18}, {'connected_gene': 'NBL1', 'score': 2.88}, {'connected_gene': 'PLA2G2D', 'score': 0.44}, {'connected_gene': 'LOC100419911', 'score': 0.19}]
chr1 GH01I020440 20440473 20442803 0.78 [{'connected_gene': 'CAMK2N1', 'score': 15.7}, {'connected_gene': 'MUL1', 'score': 10.76}, {'connected_gene': 'ENSG00000226664', 'score': 9.86}, {'connected_gene': 'LINC01141', 'score': 0.39}, {'connected_gene': 'ENSG00000284641', 'score': 0.29}]
chr1 GH01I020442 20442968 20443117 0.58 [{'connected_gene': 'CAMK2N1', 'score': 11.16}, {'connected_gene': 'MUL1', 'score': 10.79}, {'connected_gene': 'FAM43B', 'score': 10.75}, {'connected_gene': 'ENSG00000226664', 'score': 10.73}, {'connected_gene': 'LINC01141', 'score': 0.39}, {'connected_gene': 'ENSG00000284641', 'score': 0.29}]
chr1 GH01I020474 20474162 20488000 2.76 [{'connected_gene': 'CAMK2N1', 'score': 558.12}, {'connected_gene': 'ENSG00000284743', 'score': 550.77}, {'connected_gene': 'HP1BP3', 'score': 43.66}, {'connected_gene': 'DDOST', 'score': 30.09}, {'connected_gene': 'OTUD3', 'score': 20.66}, {'connected_gene': 'MUL1', 'score': 19.41}, {'connected_gene': 'FAM43B', 'score': 16.74}, {'connected_gene': 'NBPF2P', 'score': 9.72}, {'connected_gene': 'ENSG00000284641', 'score': 0.77}]
chr1 GH01I019642 19642768 19654515 2.4 [{'connected_gene': 'NBL1', 'score': 559.67}, {'connected_gene': 'UBR4', 'score': 18.47}, {'connected_gene': 'HTR6', 'score': 11.22}, {'connected_gene': 'MUL1', 'score': 10.78}, {'connected_gene': 'GC01M019654', 'score': 0.44}, {'connected_gene': 'MINOS1-NBL1', 'score': 0.23}]
chr1 GH01I020428 20428299 20431350 0.75 [{'connected_gene': 'LINC01141', 'score': 550.77}, {'connected_gene': 'MUL1', 'score': 10.84}, {'connected_gene': 'ENSG00000226664', 'score': 10.31}, {'connected_gene': 'VWA5B1', 'score': 10.25}, {'connected_gene': 'PINK1', 'score': 4.72}, {'connected_gene': 'ENSG00000226487', 'score': 0.37}]
chr1 GH01I020493 20493408 20498202 1.33 [{'connected_gene': 'OTUD3', 'score': 12.92}, {'connected_gene': 'NBPF3', 'score': 10.83}, {'connected_gene': 'NBPF2P', 'score': 10.81}, {'connected_gene': 'FAM43B', 'score': 8.1}, {'connected_gene': 'MUL1', 'score': 7.08}, {'connected_gene': 'PIR53014', 'score': 0.77}, {'connected_gene': 'GC01M020501', 'score': 0.77}, {'connected_gene': 'CAMK2N1', 'score': 0.44}]
chr1 GH01I019903 19903279 19904693 0.49 [{'connected_gene': 'OTUD3', 'score': 22.03}, {'connected_gene': 'MUL1', 'score': 9.57}, {'connected_gene': 'PIR55587', 'score': 0.44}, {'connected_gene': 'LOC105376823', 'score': 0.39}]
chr1 GH01I021331 21331602 21346770 2.9 [{'connected_gene': 'ECE1', 'score': 584.18}, {'connected_gene': 'HP1BP3', 'score': 100.88}, {'connected_gene': 'NBPF3', 'score': 64.56}, {'connected_gene': 'USP48', 'score': 59.01}, {'connected_gene': 'NBPF2P', 'score': 51.3}, {'connected_gene': 'CDC42-IT1', 'score': 20.29}, {'connected_gene': 'LDLRAD2', 'score': 11.49}, {'connected_gene': 'ENSG00000236936', 'score': 11.44}, {'connected_gene': 'HSPG2', 'score': 10.89}, {'connected_gene': 'MUL1', 'score': 10.78}, {'connected_gene': 'ENSG00000271428', 'score': 10.65}, {'connected_gene': 'DDOST', 'score': 10.26}, {'connected_gene': 'ALPL', 'score': 6.03}, {'connected_gene': 'EIF4G3', 'score': 4.9}, {'connected_gene': 'LOC100506801', 'score': 0.25}]
chr1 GH01I020551 20551307 20554864 1.55 [{'connected_gene': 'FAM43B', 'score': 560.08}, {'connected_gene': 'GC01P020552', 'score': 550.77}, {'connected_gene': 'PIR52351', 'score': 550.77}, {'connected_gene': 'MUL1', 'score': 7.01}, {'connected_gene': 'CDA', 'score': 0.28}]
chr1 GH01I020380 20380228 20381389 0.54 [{'connected_gene': 'VWA5B1', 'score': 10.51}, {'connected_gene': 'MUL1', 'score': 10.33}, {'connected_gene': 'PIR44198', 'score': 0.34}, {'connected_gene': 'GC01P020350', 'score': 0.29}, {'connected_gene': 'LINC01141', 'score': 0.23}]
chr1 GH01I020210 20210448 20213539 1.23 [{'connected_gene': 'LOC105376826', 'score': 550.77}, {'connected_gene': 'CAMK2N1', 'score': 20.67}, {'connected_gene': 'MUL1', 'score': 10.85}, {'connected_gene': 'VWA5B1', 'score': 10.69}, {'connected_gene': 'ENSG00000226664', 'score': 10.41}, {'connected_gene': 'UBXN10', 'score': 10.16}, {'connected_gene': 'LOC105376825', 'score': 0.39}]
chr1 GH01I020522 20522428 20522577 0.8 [{'connected_gene': 'GC01P020523', 'score': 550.77}, {'connected_gene': 'MUL1', 'score': 33.69}]
chr1 GH01I020399 20399446 20401089 0.59 [{'connected_gene': 'ENSG00000226664', 'score': 11.08}, {'connected_gene': 'VWA5B1', 'score': 10.4}, {'connected_gene': 'MUL1', 'score': 9.88}, {'connected_gene': 'CAMK2N1', 'score': 4.94}, {'connected_gene': 'PIR44198', 'score': 0.44}, {'connected_gene': 'LINC01141', 'score': 0.29}, {'connected_gene': 'GC01P020350', 'score': 0.25}]
chr1 GH01I020343 20343037 20344428 0.82 [{'connected_gene': 'ENSG00000226664', 'score': 11.56}, {'connected_gene': 'VWA5B1', 'score': 10.63}, {'connected_gene': 'CAMK2N1', 'score': 9.96}, {'connected_gene': 'MUL1', 'score': 9.79}, {'connected_gene': 'GC01P020350', 'score': 0.44}]