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
ENST00000279545 [[9980076, 9980225], [9984911, 9985010], [9994919, 9995032], [9997016, 9997606]] [[9980140, 9980225], [9984911, 9985010], [9994919, 9994972]]
ENST00000354855 [[9980076, 9980225], [9984911, 9985010], [9997016, 9997606]] [[9980140, 9980225], [9984911, 9985010], [9997016, 9997027]]
ENST00000324214 [[9980076, 9980225], [9984911, 9985010], [9994407, 9994550], [9994919, 9995032], [9997016, 9997606]] [[9980140, 9980225], [9984911, 9985010], [9994407, 9994550], [9994919, 9995032], [9997016, 9997125]]
ENST00000279544 [[9980076, 9980225], [9984911, 9985010], [9985898, 9986048], [9994407, 9994550], [9994919, 9995032], [9997016, 9997606]] [[9980140, 9980225], [9984911, 9985010], [9985898, 9986048], [9994407, 9994550], [9994919, 9995032], [9997016, 9997125]]
ENST00000537723 [[9980116, 9980225], [9984911, 9985010], [9985898, 9986048], [9997016, 9997256]] [[9980140, 9980225], [9984911, 9985010], [9985898, 9986048], [9997016, 9997027]]
ENST00000545196 [[9980116, 9980225], [9984911, 9985010], [9985898, 9986048], [9994900, 9995032], [9997016, 9997256]] [[9980140, 9980225], [9984911, 9985010], [9985898, 9986048], [9994900, 9994941]]
ENST00000535631 [[9994409, 9994550], [9994900, 9995032], [9997016, 9997591]] [[9994409, 9994550], [9994900, 9994972]]
NM_001291823 [[9980076, 9980225], [9984911, 9985010], [9997016, 9997604]] [[9980140, 9980225], [9984911, 9985010], [9997016, 9997027]]
NR_120305 [[9980076, 9980225], [9984911, 9985010], [9994919, 9995032], [9997016, 9997604]] None
NM_001291822 [[9980076, 9980225], [9984911, 9985010], [9994407, 9994550], [9994919, 9995032], [9997016, 9997604]] [[9980140, 9980225], [9984911, 9985010], [9994407, 9994550], [9994919, 9995032], [9997016, 9997125]]
NM_016523 [[9980076, 9980225], [9984911, 9985010], [9985898, 9986048], [9994407, 9994550], [9994919, 9995032], [9997016, 9997604]] [[9980140, 9980225], [9984911, 9985010], [9985898, 9986048], [9994407, 9994550], [9994919, 9995032], [9997016, 9997125]]
Promoter
Chrom Start End Description
chr12 9980007 9980012 CAGE_peak_5_at_KLRF1_5end
chr12 9980015 9980039 CAGE_peak_2_at_KLRF1_5end
chr12 9980051 9980062 CAGE_peak_4_at_KLRF1_5end
chr12 9980069 9980087 CAGE_peak_1_at_KLRF1_5end
chr12 9980113 9980133 CAGE_peak_3_at_KLRF1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I009756 9756259 9766298 2.69 [{'connected_gene': 'CD69', 'score': 576.83}, {'connected_gene': 'CLECL1', 'score': 22.54}, {'connected_gene': 'KLRF1', 'score': 17.17}, {'connected_gene': 'CLEC7A', 'score': 15.09}, {'connected_gene': 'OLR1', 'score': 10.55}, {'connected_gene': 'KLRB1', 'score': 8.76}, {'connected_gene': 'CLEC12A', 'score': 8.02}, {'connected_gene': 'ENSG00000213443', 'score': 6.47}, {'connected_gene': 'DDX12P', 'score': 5.72}, {'connected_gene': 'PZP', 'score': 5.15}, {'connected_gene': 'CLEC2B', 'score': 5.09}, {'connected_gene': 'KLRF2', 'score': 4.52}, {'connected_gene': 'GABARAPL1', 'score': 3.49}, {'connected_gene': 'CLEC2D', 'score': 2.99}, {'connected_gene': 'LOC105369653', 'score': 0.44}]
chr12 GH12I009940 9940066 9941322 0.43 [{'connected_gene': 'CLEC7A', 'score': 11.79}, {'connected_gene': 'KLRF1', 'score': 11.79}, {'connected_gene': 'CLEC9A', 'score': 10.58}, {'connected_gene': 'LOC102724020', 'score': 10.58}, {'connected_gene': 'ENSG00000255958', 'score': 9.67}, {'connected_gene': 'GABARAPL1', 'score': 9.67}, {'connected_gene': 'LINC02470', 'score': 5.64}, {'connected_gene': 'CLEC2A', 'score': 0.44}]
chr12 GH12I009739 9739002 9743842 1.55 [{'connected_gene': 'CLEC7A', 'score': 21.44}, {'connected_gene': 'CLEC2D', 'score': 17.27}, {'connected_gene': 'KLRB1', 'score': 15.45}, {'connected_gene': 'CLECL1', 'score': 15.1}, {'connected_gene': 'ENSG00000214776', 'score': 11.61}, {'connected_gene': 'CD69', 'score': 11.38}, {'connected_gene': 'ENSG00000213443', 'score': 11.04}, {'connected_gene': 'CLEC2B', 'score': 5.21}, {'connected_gene': 'KLRF1', 'score': 4.5}, {'connected_gene': 'GC12P009745', 'score': 0.77}]
chr12 GH12I009813 9813601 9814914 1.21 [{'connected_gene': 'KLRF1', 'score': 10.61}, {'connected_gene': 'KLRD1', 'score': 9.78}, {'connected_gene': 'CD69', 'score': 5.79}, {'connected_gene': 'KLRB1', 'score': 4.59}, {'connected_gene': 'A2MP1', 'score': 4.31}, {'connected_gene': 'CLEC2B', 'score': 2.62}, {'connected_gene': 'KLRF2', 'score': 2.21}, {'connected_gene': 'LOC100419929', 'score': 0.77}, {'connected_gene': 'LOC105369653', 'score': 0.25}]
chr12 GH12I009829 9829897 9830209 0.69 [{'connected_gene': 'KLRF1', 'score': 34.83}, {'connected_gene': 'KLRD1', 'score': 26.67}, {'connected_gene': 'MAGOHB', 'score': 13.08}, {'connected_gene': 'TAS2R10', 'score': 11.48}, {'connected_gene': 'CLEC12A', 'score': 10.71}, {'connected_gene': 'CLEC12A-AS1', 'score': 10.71}, {'connected_gene': 'KLRB1', 'score': 8.76}, {'connected_gene': 'CD69', 'score': 4.6}, {'connected_gene': 'ENSG00000255882', 'score': 0.28}]
chr12 GH12I009826 9826736 9827994 0.88 [{'connected_gene': 'KLRF1', 'score': 550.77}, {'connected_gene': 'LOC100419929', 'score': 0.44}]
chr12 GH12I009932 9932358 9932417 0.5 [{'connected_gene': 'CLEC2A', 'score': 550.77}, {'connected_gene': 'CLEC12A-AS1', 'score': 12.26}, {'connected_gene': 'KLRF1', 'score': 12.1}, {'connected_gene': 'CLEC9A', 'score': 10.61}, {'connected_gene': 'LOC102724020', 'score': 10.61}, {'connected_gene': 'GC12P009886', 'score': 0.25}]
chr12 GH12I010268 10268202 10268278 0.22 [{'connected_gene': 'KLRD1', 'score': 7.62}, {'connected_gene': 'KLRF1', 'score': 4.73}, {'connected_gene': 'KLRK1', 'score': 3.94}, {'connected_gene': 'KLRC2', 'score': 2.91}, {'connected_gene': 'KLRC1', 'score': 2.89}, {'connected_gene': 'KLRC4-KLRK1', 'score': 2.18}, {'connected_gene': 'KLRC4', 'score': 2.07}, {'connected_gene': 'LOC105369656', 'score': 0.34}]
chr12 GH12I010289 10289157 10289354 0.61 [{'connected_gene': 'KLRD1', 'score': 18.11}, {'connected_gene': 'KLRF1', 'score': 15.08}, {'connected_gene': 'KLRK1', 'score': 11.38}, {'connected_gene': 'ENSG00000255958', 'score': 10.63}, {'connected_gene': 'GABARAPL1', 'score': 10.62}, {'connected_gene': 'KLRC4-KLRK1', 'score': 9.55}, {'connected_gene': 'KLRC4', 'score': 9.14}, {'connected_gene': 'KLRC3', 'score': 7.37}, {'connected_gene': 'KLRC1', 'score': 4.32}, {'connected_gene': 'KLRC2', 'score': 2.67}, {'connected_gene': 'YBX3', 'score': 1.64}, {'connected_gene': 'CLEC2B', 'score': 1.5}, {'connected_gene': 'CLEC1B', 'score': 1.28}, {'connected_gene': 'LOC105369656', 'score': 0.77}]
chr12 GH12I010303 10303296 10306827 1.49 [{'connected_gene': 'KLRD1', 'score': 578.61}, {'connected_gene': 'KLRC4-KLRK1', 'score': 21.27}, {'connected_gene': 'KLRF1', 'score': 19.95}, {'connected_gene': 'KLRC3', 'score': 15.58}, {'connected_gene': 'KLRK1', 'score': 14.36}, {'connected_gene': 'KLRC4', 'score': 13.69}, {'connected_gene': 'GABARAPL1', 'score': 11.06}, {'connected_gene': 'ENSG00000255958', 'score': 11.06}, {'connected_gene': 'KLRC1', 'score': 3.1}, {'connected_gene': 'KLRC2', 'score': 3.01}, {'connected_gene': 'LOC105369656', 'score': 0.39}, {'connected_gene': 'ENSG00000256288', 'score': 0.29}]
chr12 GH12I009605 9605276 9608523 1.03 [{'connected_gene': 'KLRB1', 'score': 552.53}, {'connected_gene': 'CLEC2D', 'score': 24.71}, {'connected_gene': 'ENSG00000214776', 'score': 14.81}, {'connected_gene': 'LOC642846', 'score': 13.48}, {'connected_gene': 'KLRF2', 'score': 12.5}, {'connected_gene': 'DDX12P', 'score': 11.77}, {'connected_gene': 'LOC374443', 'score': 8.89}, {'connected_gene': 'LINC02367', 'score': 6.23}, {'connected_gene': 'KLRF1', 'score': 2.03}, {'connected_gene': 'PIR60914', 'score': 0.28}, {'connected_gene': 'ENSG00000284634', 'score': 0.1}]
chr12 GH12I009614 9614867 9618149 0.9 [{'connected_gene': 'LOC374443', 'score': 557.6}, {'connected_gene': 'CLEC2D', 'score': 39.27}, {'connected_gene': 'KLRB1', 'score': 23.06}, {'connected_gene': 'KLRF1', 'score': 15.11}, {'connected_gene': 'ENSG00000214776', 'score': 13.73}, {'connected_gene': 'ENSG00000257027', 'score': 11.46}, {'connected_gene': 'CD69', 'score': 10.53}, {'connected_gene': 'CLECL1', 'score': 10.5}, {'connected_gene': 'CLEC2B', 'score': 2.77}, {'connected_gene': 'ENSG00000284634', 'score': 0.1}]
chr12 GH12I010016 10016482 10018980 1.02 [{'connected_gene': 'CLEC12A', 'score': 31.42}, {'connected_gene': 'CLEC12A-AS1', 'score': 11.66}, {'connected_gene': 'CLEC7A', 'score': 11.0}, {'connected_gene': 'KLRF1', 'score': 10.35}, {'connected_gene': 'LINC02470', 'score': 4.99}, {'connected_gene': 'CLEC1B', 'score': 0.77}, {'connected_gene': 'GC12P010023', 'score': 0.44}, {'connected_gene': 'CLEC12B', 'score': 0.44}, {'connected_gene': 'LOC102724020', 'score': 0.39}]
chr12 GH12I009646 9646723 9656743 2.29 [{'connected_gene': 'LOC105369728', 'score': 550.77}, {'connected_gene': 'CLEC2D', 'score': 39.35}, {'connected_gene': 'LOC374443', 'score': 32.68}, {'connected_gene': 'DDX12P', 'score': 18.78}, {'connected_gene': 'KLRB1', 'score': 17.77}, {'connected_gene': 'CLECL1', 'score': 17.05}, {'connected_gene': 'CLEC7A', 'score': 16.86}, {'connected_gene': 'M6PR', 'score': 15.96}, {'connected_gene': 'CLEC12A', 'score': 15.45}, {'connected_gene': 'LOC642846', 'score': 13.69}, {'connected_gene': 'ENSG00000213443', 'score': 12.59}, {'connected_gene': 'ENSG00000214776', 'score': 12.04}, {'connected_gene': 'PHC1', 'score': 11.55}, {'connected_gene': 'EIF2S3B', 'score': 10.79}, {'connected_gene': 'LINC00612', 'score': 9.98}, {'connected_gene': 'RIMKLB', 'score': 9.8}, {'connected_gene': 'CD69', 'score': 9.09}, {'connected_gene': 'CLEC2B', 'score': 6.11}, {'connected_gene': 'KLRA1P', 'score': 5.23}, {'connected_gene': 'KLRF1', 'score': 3.79}, {'connected_gene': 'ENSG00000272917', 'score': 0.44}, {'connected_gene': 'ENSG00000284634', 'score': 0.08}]