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
ENST00000341529 [[66400532, 66400661], [66413221, 66413450], [66420711, 66421000], [66422226, 66422343], [66423260, 66423425], [66424305, 66424493], [66426038, 66426286], [66429961, 66430104], [66431884, 66432009], [66432358, 66432464], [66434673, 66434919], [66436554, 66438686]] [[66413240, 66413450], [66420711, 66421000], [66422226, 66422343], [66423260, 66423425], [66424305, 66424493], [66426038, 66426286], [66429961, 66430104], [66431884, 66432009], [66432358, 66432464], [66434673, 66434919], [66436554, 66437072]]
ENST00000565334 [[66400592, 66400661], [66413221, 66413450], [66420711, 66420806], [66424373, 66424493], [66426038, 66426286], [66429961, 66430104], [66431884, 66432009], [66432358, 66432464], [66434673, 66434919], [66436554, 66437311]] [[66413240, 66413450], [66420711, 66420806], [66424373, 66424401]]
ENST00000562048 [[66410243, 66410445], [66413221, 66413450], [66420711, 66420895]] [[66413240, 66413450], [66420711, 66420895]]
ENST00000568155 [[66410292, 66410503], [66413221, 66413450], [66420711, 66420730]] [[66413240, 66413450], [66420711, 66420730]]
ENST00000568023 [[66411111, 66411631], [66413221, 66413292]] [[66413240, 66413292]]
ENST00000563425 [[66413127, 66413450], [66420711, 66421000], [66422226, 66422343], [66423260, 66423425], [66424305, 66424493], [66426038, 66426888]] [[66413240, 66413450], [66420711, 66421000], [66422226, 66422343], [66423260, 66423425], [66424305, 66424493], [66426038, 66426290]]
ENST00000539168 [[66429357, 66429725], [66429961, 66430104], [66431884, 66432009], [66432358, 66432464], [66434673, 66434919], [66436554, 66437238]] [[66434765, 66434919], [66436554, 66437072]]
NM_001795 [[66400509, 66400661], [66413221, 66413450], [66420711, 66421000], [66422226, 66422343], [66423260, 66423425], [66424305, 66424493], [66426038, 66426286], [66429961, 66430104], [66431884, 66432009], [66432358, 66432464], [66434673, 66434919], [66436554, 66438689]] [[66413240, 66413450], [66420711, 66421000], [66422226, 66422343], [66423260, 66423425], [66424305, 66424493], [66426038, 66426286], [66429961, 66430104], [66431884, 66432009], [66432358, 66432464], [66434673, 66434919], [66436554, 66437072]]
Promoter
Chrom Start End Description
chr16 66400533 66400545 CAGE_peak_2_at_CDH5_5end
chr16 66400553 66400565 CAGE_peak_3_at_CDH5_5end
chr16 66400578 66400600 CAGE_peak_1_at_CDH5_5end
chr16 66413154 66413184 CAGE_peak_4_at_CDH5_5end
chr16 66413188 66413195 CAGE_peak_9_at_CDH5_5end
chr16 66413204 66413234 CAGE_peak_5_at_CDH5_5end
chr16 66413237 66413255 CAGE_peak_7_at_CDH5_5end
chr16 66428965 66428968 CAGE_peak_6_at_CDH5_5end
chr16 66429426 66429432 CAGE_peak_8_at_CDH5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I066375 66375758 66377509 0.94 [{'connected_gene': 'LOC105371318', 'score': 550.77}, {'connected_gene': 'GC16P066378', 'score': 550.77}, {'connected_gene': 'GC16M066371', 'score': 550.77}, {'connected_gene': 'LINC00920', 'score': 8.04}, {'connected_gene': 'TK2', 'score': 4.67}, {'connected_gene': 'CDH5', 'score': 0.39}]
chr16 GH16I066373 66373065 66374747 0.43 [{'connected_gene': 'LOC105371318', 'score': 550.77}, {'connected_gene': 'GC16M066371', 'score': 550.77}, {'connected_gene': 'LINC00920', 'score': 7.84}, {'connected_gene': 'CDH5', 'score': 0.44}]
chr16 GH16I066377 66377611 66377670 0.7 [{'connected_gene': 'LOC105371318', 'score': 550.77}, {'connected_gene': 'GC16P066378', 'score': 550.77}, {'connected_gene': 'GC16M066371', 'score': 550.77}, {'connected_gene': 'CDH5', 'score': 550.39}]
chr16 GH16I066378 66378216 66384631 1.49 [{'connected_gene': 'LINC00920', 'score': 34.71}, {'connected_gene': 'NAE1', 'score': 34.53}, {'connected_gene': 'KIAA0895L', 'score': 23.06}, {'connected_gene': 'E2F4', 'score': 13.89}, {'connected_gene': 'ENSG00000260465', 'score': 11.66}, {'connected_gene': 'HSF4', 'score': 9.81}, {'connected_gene': 'CDH5', 'score': 2.12}, {'connected_gene': 'GC16P066378', 'score': 0.77}]
chr16 GH16I066399 66399215 66400804 0.66 [{'connected_gene': 'LINC00920', 'score': 35.35}, {'connected_gene': 'CDH5', 'score': 13.5}, {'connected_gene': 'BEAN1', 'score': 12.23}, {'connected_gene': 'CMTM3', 'score': 11.29}, {'connected_gene': 'DYNC1LI2', 'score': 9.99}, {'connected_gene': 'LOC106699570', 'score': 9.99}, {'connected_gene': 'GC16M066396', 'score': 0.39}, {'connected_gene': 'GC16P066378', 'score': 0.34}]
chr16 GH16I066406 66406025 66410115 1.59 [{'connected_gene': 'LINC00920', 'score': 595.43}, {'connected_gene': 'CDH5', 'score': 11.96}, {'connected_gene': 'CMTM2', 'score': 10.69}, {'connected_gene': 'CMTM4', 'score': 9.79}, {'connected_gene': 'DYNC1LI2', 'score': 9.55}, {'connected_gene': 'LOC106699570', 'score': 9.55}, {'connected_gene': 'CA7', 'score': 9.3}, {'connected_gene': 'RRAD', 'score': 5.48}, {'connected_gene': 'CMTM3', 'score': 1.62}, {'connected_gene': 'GC16M066396', 'score': 0.77}, {'connected_gene': 'GC16P066378', 'score': 0.31}]
chr16 GH16I066357 66357401 66369974 2.49 [{'connected_gene': 'CDH5', 'score': 560.51}, {'connected_gene': 'PIR36503', 'score': 550.77}, {'connected_gene': 'KIAA0895L', 'score': 26.22}, {'connected_gene': 'NAE1', 'score': 22.53}, {'connected_gene': 'LINC00920', 'score': 10.29}, {'connected_gene': 'HSF4', 'score': 9.81}, {'connected_gene': 'LRRC36', 'score': 4.15}, {'connected_gene': 'LOC105371318', 'score': 0.39}, {'connected_gene': 'RNA5SP428', 'score': 0.21}]
chr16 GH16I066387 66387442 66387527 0.63 [{'connected_gene': 'GC16P066378', 'score': 0.44}, {'connected_gene': 'LINC00920', 'score': 0.34}, {'connected_gene': 'CDH5', 'score': 0.34}]
chr16 GH16I066370 66370601 66371000 0.51 [{'connected_gene': 'GC16M066371', 'score': 0.77}, {'connected_gene': 'CDH5', 'score': 0.77}, {'connected_gene': 'LOC105371318', 'score': 0.44}]