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
ENST00000521578 [[142402092, 142402184], [142431487, 142432445], [142435147, 142435240], [142437038, 142437169], [142437849, 142437924], [142441026, 142441394]] [[142432340, 142432445], [142435147, 142435240], [142437038, 142437169], [142437849, 142437924], [142441026, 142441144]]
ENST00000520105 [[142402094, 142402184], [142431487, 142432445], [142435147, 142435240], [142437038, 142437169], [142441026, 142441620]] [[142432340, 142432445], [142435147, 142435240], [142437038, 142437169], [142441026, 142441144]]
ENST00000523147 [[142402120, 142402184], [142431487, 142431710], [142432280, 142432445], [142435147, 142435240], [142437038, 142437051]] [[142432340, 142432445], [142435147, 142435240], [142437038, 142437051]]
ENST00000329397 [[142432006, 142432445], [142435147, 142435240], [142437038, 142437169], [142437849, 142437924], [142441026, 142441620]] [[142432340, 142432445], [142435147, 142435240], [142437038, 142437169], [142437849, 142437924], [142441026, 142441144]]
ENST00000349124 [[142432006, 142432445], [142435147, 142435240], [142437038, 142437169], [142441026, 142441620]] [[142432340, 142432445], [142435147, 142435240], [142437038, 142437169], [142441026, 142441144]]
ENST00000524028 [[142432117, 142432445], [142437883, 142437924], [142441026, 142441620]] [[142432340, 142432445], [142437883, 142437924], [142441026, 142441144]]
NM_007079 [[142431487, 142432445], [142435147, 142435240], [142437038, 142437169], [142441026, 142442554]] [[142432340, 142432445], [142435147, 142435240], [142437038, 142437169], [142441026, 142441144]]
NM_032611 [[142431487, 142432445], [142435147, 142435240], [142437038, 142437169], [142437849, 142437924], [142441026, 142442554]] [[142432340, 142432445], [142435147, 142435240], [142437038, 142437169], [142437849, 142437924], [142441026, 142441144]]
Promoter
Chrom Start End Description
chr8 142402089 142402158 CAGE_peak_1_at_PTP4A3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I141398 141398443 141400010 1.29 [{'connected_gene': 'LINC01300', 'score': 4.8}, {'connected_gene': 'PTP4A3', 'score': 0.44}, {'connected_gene': 'ENSG00000244998', 'score': 0.44}, {'connected_gene': 'PIR43419', 'score': 0.39}]
chr8 GH08I141408 141408801 141409600 0.51 [{'connected_gene': 'LINC01300', 'score': 5.04}, {'connected_gene': 'PIR43419', 'score': 0.77}, {'connected_gene': 'PTP4A3', 'score': 0.37}, {'connected_gene': 'ENSG00000244998', 'score': 0.37}]
chr8 GH08I141400 141400179 141407348 1.74 [{'connected_gene': 'SLC45A4', 'score': 33.37}, {'connected_gene': 'DENND3', 'score': 26.12}, {'connected_gene': 'LINC01300', 'score': 6.36}, {'connected_gene': 'ENSG00000244998', 'score': 6.24}, {'connected_gene': 'TRAPPC9', 'score': 4.76}, {'connected_gene': 'PTP4A3', 'score': 3.78}, {'connected_gene': 'PIR43419', 'score': 0.39}]
chr8 GH08I141233 141233729 141236558 1.54 [{'connected_gene': 'SLC45A4', 'score': 45.84}, {'connected_gene': 'DENND3', 'score': 32.73}, {'connected_gene': 'ENSG00000253307', 'score': 7.91}, {'connected_gene': 'PTP4A3', 'score': 2.2}, {'connected_gene': 'ENSG00000280035', 'score': 0.44}]
chr8 GH08I141237 141237359 141240972 1.56 [{'connected_gene': 'SLC45A4', 'score': 57.84}, {'connected_gene': 'DENND3', 'score': 27.81}, {'connected_gene': 'ENSG00000253307', 'score': 7.39}, {'connected_gene': 'PTP4A3', 'score': 1.82}, {'connected_gene': 'ENSG00000280035', 'score': 0.39}]
chr8 GH08I141225 141225771 141229211 2.3 [{'connected_gene': 'SLC45A4', 'score': 606.65}, {'connected_gene': 'ENSG00000280035', 'score': 550.77}, {'connected_gene': 'DENND3', 'score': 35.27}, {'connected_gene': 'LOC105375787', 'score': 13.16}, {'connected_gene': 'ENSG00000253307', 'score': 13.16}, {'connected_gene': 'LINC01300', 'score': 12.58}, {'connected_gene': 'GPR20', 'score': 12.56}, {'connected_gene': 'PTP4A3', 'score': 1.57}]
chr8 GH08I141430 141430881 141431153 0.66 [{'connected_gene': 'TSNARE1', 'score': 9.66}, {'connected_gene': 'FP248', 'score': 0.77}, {'connected_gene': 'PIR43419', 'score': 0.37}, {'connected_gene': 'PTP4A3', 'score': 0.28}]
chr8 GH08I141393 141393435 141394550 0.9 [{'connected_gene': 'PTP4A3', 'score': 552.49}, {'connected_gene': 'ENSG00000244998', 'score': 550.77}, {'connected_gene': 'PTK2', 'score': 11.91}, {'connected_gene': 'SLC45A4', 'score': 10.31}, {'connected_gene': 'LINC01300', 'score': 5.43}, {'connected_gene': 'PIR43419', 'score': 0.37}]
chr8 GH08I141421 141421398 141421457 0.88 [{'connected_gene': 'PTP4A3', 'score': 550.31}, {'connected_gene': 'PIR43419', 'score': 0.44}, {'connected_gene': 'FP248', 'score': 0.39}]
chr8 GH08I141424 141421930 141421989 0.81 [{'connected_gene': 'PTP4A3', 'score': 550.31}, {'connected_gene': 'PIR43419', 'score': 0.44}, {'connected_gene': 'FP248', 'score': 0.39}]
chr8 GH08I141391 141391387 141393307 1.63 [{'connected_gene': 'LOC105375790', 'score': 550.77}, {'connected_gene': 'PTP4A3', 'score': 550.77}, {'connected_gene': 'ENSG00000244998', 'score': 550.77}, {'connected_gene': 'GPR20', 'score': 7.91}, {'connected_gene': 'LINC01300', 'score': 5.51}]
chr8 GH08I141431 141431541 141431730 0.98 [{'connected_gene': 'FP248', 'score': 0.77}, {'connected_gene': 'PIR43419', 'score': 0.37}, {'connected_gene': 'PTP4A3', 'score': 0.28}]
chr8 GH08I141427 141427164 141428304 0.52 [{'connected_gene': 'FP248', 'score': 11.3}, {'connected_gene': 'PIR43419', 'score': 0.39}, {'connected_gene': 'PTP4A3', 'score': 0.28}]
chr8 GH08I141419 141419716 141420636 0.2 [{'connected_gene': 'FP248', 'score': 11.63}, {'connected_gene': 'PIR43419', 'score': 0.44}, {'connected_gene': 'PTP4A3', 'score': 0.31}]
chr8 GH08I141422 141422133 141425633 0.49 [{'connected_gene': 'FP248', 'score': 11.38}, {'connected_gene': 'PIR43419', 'score': 0.44}, {'connected_gene': 'PTP4A3', 'score': 0.29}]
chr8 GH08I141093 141093360 141097271 1.55 [{'connected_gene': 'GC08M141090', 'score': 550.77}, {'connected_gene': 'DENND3', 'score': 44.83}, {'connected_gene': 'SLC45A4', 'score': 26.81}, {'connected_gene': 'LOC101927963', 'score': 12.2}, {'connected_gene': 'AGO2', 'score': 3.7}, {'connected_gene': 'PTP4A3', 'score': 1.45}, {'connected_gene': 'GPR20', 'score': 1.22}, {'connected_gene': 'GC08P141112', 'score': 0.37}]
chr8 GH08I141410 141410013 141419430 2.01 [{'connected_gene': 'PIR43419', 'score': 550.77}, {'connected_gene': 'FP248', 'score': 11.89}, {'connected_gene': 'TSNARE1', 'score': 9.66}, {'connected_gene': 'LINC01300', 'score': 5.78}, {'connected_gene': 'ENSG00000244998', 'score': 4.72}, {'connected_gene': 'PTP4A3', 'score': 3.08}]
chr8 GH08I141423 141420701 141420850 0.4 [{'connected_gene': 'PIR43419', 'score': 0.44}, {'connected_gene': 'FP248', 'score': 0.39}, {'connected_gene': 'PTP4A3', 'score': 0.31}]
chr8 GH08I141425 141421047 141421070 0.4 [{'connected_gene': 'PIR43419', 'score': 0.44}, {'connected_gene': 'FP248', 'score': 0.39}, {'connected_gene': 'PTP4A3', 'score': 0.31}]
chr8 GH08I141420 141420921 141420959 0.51 [{'connected_gene': 'PIR43419', 'score': 0.44}, {'connected_gene': 'FP248', 'score': 0.39}, {'connected_gene': 'PTP4A3', 'score': 0.31}]