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
ENST00000544747 [[10378656, 10378832], [10460576, 10460683], [10462224, 10462287], [10464062, 10464214], [10466008, 10466112], [10467271, 10467418]] [[10460676, 10460683], [10462224, 10462287], [10464062, 10464214], [10466008, 10466112], [10467271, 10467363]]
ENST00000540271 [[10378664, 10378832], [10457064, 10457146], [10460576, 10462287], [10464062, 10464214], [10466008, 10466112], [10467271, 10467608]] None
ENST00000381907 [[10457044, 10457146], [10460576, 10460683], [10461986, 10462079], [10462224, 10462287], [10464062, 10464214], [10466008, 10466112], [10467271, 10468738]] [[10460676, 10460683], [10461986, 10462079], [10462224, 10462287], [10464062, 10464214], [10466008, 10466112], [10467271, 10467392]]
ENST00000381908 [[10460416, 10460683], [10461986, 10462079], [10462224, 10462287], [10464062, 10464214], [10466005, 10466112], [10467271, 10469850]] [[10460676, 10460683], [10461986, 10462079], [10462224, 10462287], [10464062, 10464214], [10466005, 10466112], [10467271, 10467392]]
ENST00000336164 [[10460416, 10460683], [10461986, 10462079], [10462224, 10462287], [10464062, 10464214], [10466008, 10466112], [10467271, 10469850]] [[10460676, 10460683], [10461986, 10462079], [10462224, 10462287], [10464062, 10464214], [10466008, 10466112], [10467271, 10467392]]
ENST00000350274 [[10460416, 10460683], [10462224, 10462287], [10464062, 10464214], [10466008, 10466112], [10467271, 10469850]] [[10460676, 10460683], [10462224, 10462287], [10464062, 10464214], [10466008, 10466112], [10467271, 10467392]]
ENST00000538997 [[10460543, 10460683], [10462224, 10462287], [10464062, 10464282]] None
ENST00000543777 [[10460548, 10460683], [10461986, 10462079], [10464062, 10464214], [10466008, 10466112], [10467271, 10467576]] [[10460676, 10460683], [10461986, 10462079], [10464062, 10464214], [10466008, 10466112], [10467271, 10467392]]
ENST00000344825 [[10460548, 10460683], [10461986, 10462079], [10462224, 10462287], [10466005, 10466112], [10467271, 10467576]] [[10460676, 10460683], [10461986, 10462079], [10462224, 10462287], [10466005, 10466061]]
ENST00000543420 [[10460548, 10460683], [10461986, 10462079], [10462224, 10462287], [10464062, 10464218], [10466062, 10466112], [10467271, 10467576]] [[10460676, 10460683], [10461986, 10462079], [10462224, 10462287], [10464062, 10464218], [10466062, 10466064]]
ENST00000539374 [[10460648, 10460683], [10461986, 10462079], [10462224, 10462287], [10464062, 10464218], [10466008, 10466112], [10467271, 10467417]] [[10460676, 10460683], [10461986, 10462079], [10462224, 10462287], [10464062, 10464218], [10466008, 10466010]]
ENST00000539792 [[10466092, 10466112], [10467271, 10467372], [10467911, 10468236]] [[10466092, 10466112], [10467271, 10467372], [10467911, 10467946]]
NM_001114396 [[10457049, 10457146], [10460576, 10460683], [10461986, 10462079], [10462224, 10462287], [10464062, 10464214], [10466008, 10466112], [10467271, 10469850]] [[10460676, 10460683], [10461986, 10462079], [10462224, 10462287], [10464062, 10464214], [10466008, 10466112], [10467271, 10467392]]
NM_007334 [[10460416, 10460683], [10462224, 10462287], [10464062, 10464214], [10466008, 10466112], [10467271, 10469850]] [[10460676, 10460683], [10462224, 10462287], [10464062, 10464214], [10466008, 10466112], [10467271, 10467392]]
NM_002262 [[10460416, 10460683], [10461986, 10462079], [10462224, 10462287], [10464062, 10464214], [10466008, 10466112], [10467271, 10469850]] [[10460676, 10460683], [10461986, 10462079], [10462224, 10462287], [10464062, 10464214], [10466008, 10466112], [10467271, 10467392]]
Promoter
Chrom Start End Description
chr12 10460438 10460485 CAGE_peak_1_at_KLRD1_5end
chr12 10460489 10460500 CAGE_peak_3_at_KLRD1_5end
chr12 10460570 10460585 CAGE_peak_2_at_KLRD1_5end
chr12 10461953 10461958 CAGE_peak_4_at_KLRD1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I010119 10119029 10122000 0.73 [{'connected_gene': 'CLEC7A', 'score': 25.98}, {'connected_gene': 'CLEC12A', 'score': 7.83}, {'connected_gene': 'CLEC2B', 'score': 7.64}, {'connected_gene': 'CLEC9A', 'score': 5.62}, {'connected_gene': 'OLR1', 'score': 3.85}, {'connected_gene': 'GABARAPL1', 'score': 3.6}, {'connected_gene': 'KLRD1', 'score': 1.37}, {'connected_gene': 'CLEC1B', 'score': 1.32}, {'connected_gene': 'LOC105369655', 'score': 0.44}]
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 GH12I010235 10235882 10236031 0.63 [{'connected_gene': 'TAS2R14', 'score': 15.21}, {'connected_gene': 'TAS2R15P', 'score': 11.63}, {'connected_gene': 'KLRA1P', 'score': 11.52}, {'connected_gene': 'TAS2R64P', 'score': 11.12}, {'connected_gene': 'TAS2R31', 'score': 9.96}, {'connected_gene': 'MAGOHB', 'score': 9.91}, {'connected_gene': 'KLRC1', 'score': 9.9}, {'connected_gene': 'KLRD1', 'score': 0.44}, {'connected_gene': 'LOC105369656', 'score': 0.22}]
chr12 GH12I010204 10204790 10206378 0.56 [{'connected_gene': 'OLR1', 'score': 12.39}, {'connected_gene': 'KLRD1', 'score': 4.97}, {'connected_gene': 'TAS2R50', 'score': 4.41}, {'connected_gene': 'GABARAPL1', 'score': 0.44}]
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 GH12I010315 10315015 10315973 0.2 [{'connected_gene': 'KLRD1', 'score': 5.62}, {'connected_gene': 'KLRC1', 'score': 4.59}, {'connected_gene': 'ENSG00000256288', 'score': 0.34}, {'connected_gene': 'LOC105369656', 'score': 0.34}]
chr12 GH12I010219 10219942 10221450 0.89 [{'connected_gene': 'KLRD1', 'score': 0.44}, {'connected_gene': 'ENSG00000255958', 'score': 0.44}, {'connected_gene': 'GABARAPL1', 'score': 0.44}]
chr12 GH12I010307 10307821 10307880 0.7 [{'connected_gene': 'KLRD1', 'score': 550.18}, {'connected_gene': 'LOC105369656', 'score': 0.37}, {'connected_gene': 'ENSG00000256288', 'score': 0.29}]
chr12 GH12I010317 10317191 10318713 0.52 [{'connected_gene': 'KLRD1', 'score': 7.05}, {'connected_gene': 'ENSG00000256288', 'score': 0.34}, {'connected_gene': 'LOC105369656', 'score': 0.31}]
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 GH12I010282 10282427 10284057 0.2 [{'connected_gene': 'KLRC1', 'score': 9.89}, {'connected_gene': 'KLRC2', 'score': 4.64}, {'connected_gene': 'LOC105369656', 'score': 0.44}, {'connected_gene': 'KLRD1', 'score': 0.22}]
chr12 GH12I010279 10279643 10280443 0.4 [{'connected_gene': 'KLRC1', 'score': 9.89}, {'connected_gene': 'LOC105369656', 'score': 0.39}, {'connected_gene': 'KLRD1', 'score': 0.23}]
chr12 GH12I010211 10211205 10216462 2.27 [{'connected_gene': 'GABARAPL1', 'score': 556.28}, {'connected_gene': 'ENSG00000255958', 'score': 550.77}, {'connected_gene': 'KLRA1P', 'score': 15.33}, {'connected_gene': 'TAS2R31', 'score': 13.69}, {'connected_gene': 'TAS2R20', 'score': 10.87}, {'connected_gene': 'TAS2R19', 'score': 10.83}, {'connected_gene': 'TAS2R14', 'score': 10.56}, {'connected_gene': 'TAS2R10', 'score': 9.87}, {'connected_gene': 'KLRD1', 'score': 9.14}, {'connected_gene': 'CLEC7A', 'score': 6.05}]
chr12 GH12I010369 10369477 10370665 0.81 [{'connected_gene': 'KLRK1', 'score': 31.24}, {'connected_gene': 'KLRC4', 'score': 16.09}, {'connected_gene': 'KLRC2', 'score': 12.56}, {'connected_gene': 'KLRD1', 'score': 11.17}, {'connected_gene': 'STYK1', 'score': 10.4}, {'connected_gene': 'KLRC1', 'score': 9.71}, {'connected_gene': 'KLRC4-KLRK1', 'score': 6.3}, {'connected_gene': 'KLRC3', 'score': 1.87}, {'connected_gene': 'LOC101928100', 'score': 0.44}, {'connected_gene': 'GC12P010386', 'score': 0.37}]
chr12 GH12I010553 10553594 10556104 1.18 [{'connected_gene': 'KLRK1', 'score': 23.47}, {'connected_gene': 'KLRC4', 'score': 17.87}, {'connected_gene': 'KLRC1', 'score': 13.2}, {'connected_gene': 'KLRD1', 'score': 9.87}, {'connected_gene': 'LINC02446', 'score': 8.68}, {'connected_gene': 'KLRA1P', 'score': 7.88}, {'connected_gene': 'KLRC4-KLRK1', 'score': 6.28}, {'connected_gene': 'KLRC3', 'score': 5.1}, {'connected_gene': 'KLRC2', 'score': 2.48}, {'connected_gene': 'LOC105376675', 'score': 0.37}]
chr12 GH12I010557 10557063 10559980 1.07 [{'connected_gene': 'KLRK1', 'score': 20.32}, {'connected_gene': 'KLRC4', 'score': 19.62}, {'connected_gene': 'KLRC1', 'score': 17.01}, {'connected_gene': 'KLRD1', 'score': 9.41}, {'connected_gene': 'KLRC4-KLRK1', 'score': 7.98}, {'connected_gene': 'KLRA1P', 'score': 7.68}, {'connected_gene': 'LINC02446', 'score': 6.09}, {'connected_gene': 'KLRC3', 'score': 6.01}, {'connected_gene': 'KLRC2', 'score': 1.38}, {'connected_gene': 'LOC105376675', 'score': 0.39}]
chr12 GH12I010391 10391061 10398505 1.65 [{'connected_gene': 'KLRK1', 'score': 26.47}, {'connected_gene': 'KLRA1P', 'score': 24.92}, {'connected_gene': 'KLRC3', 'score': 19.85}, {'connected_gene': 'KLRC4', 'score': 17.28}, {'connected_gene': 'KLRC2', 'score': 15.99}, {'connected_gene': 'LOC101928100', 'score': 15.74}, {'connected_gene': 'TAS2R31', 'score': 15.34}, {'connected_gene': 'TAS2R20', 'score': 13.57}, {'connected_gene': 'MAGOHB', 'score': 12.21}, {'connected_gene': 'TAS2R10', 'score': 11.98}, {'connected_gene': 'TAS2R19', 'score': 10.43}, {'connected_gene': 'KLRC1', 'score': 10.42}, {'connected_gene': 'KLRD1', 'score': 8.54}, {'connected_gene': 'KLRC4-KLRK1', 'score': 6.54}, {'connected_gene': 'GC12P010386', 'score': 0.44}]
chr12 GH12I010310 10310806 10311943 0.63 [{'connected_gene': 'LOC105369656', 'score': 0.34}, {'connected_gene': 'ENSG00000256288', 'score': 0.31}, {'connected_gene': 'KLRD1', 'score': 0.17}]
chr12 GH12I010360 10360605 10367874 1.96 [{'connected_gene': 'LOC101928100', 'score': 568.77}, {'connected_gene': 'KLRK1', 'score': 17.18}, {'connected_gene': 'DDX12P', 'score': 16.54}, {'connected_gene': 'ENSG00000213443', 'score': 14.66}, {'connected_gene': 'KLRA1P', 'score': 13.55}, {'connected_gene': 'EIF2S3B', 'score': 12.53}, {'connected_gene': 'ENSG00000257027', 'score': 12.12}, {'connected_gene': 'ENSG00000256682', 'score': 11.18}, {'connected_gene': 'CLEC2D', 'score': 10.82}, {'connected_gene': 'ENSG00000255958', 'score': 10.63}, {'connected_gene': 'GABARAPL1', 'score': 10.62}, {'connected_gene': 'LOC374443', 'score': 10.61}, {'connected_gene': 'TAS2R43', 'score': 10.53}, {'connected_gene': 'STYK1', 'score': 10.52}, {'connected_gene': 'ENSG00000214776', 'score': 10.45}, {'connected_gene': 'TAS2R50', 'score': 10.27}, {'connected_gene': 'KLRC1', 'score': 10.02}, {'connected_gene': 'LOC728715', 'score': 9.8}, {'connected_gene': 'ENSG00000256155', 'score': 0.77}, {'connected_gene': 'GC12P010386', 'score': 0.34}, {'connected_gene': 'KLRD1', 'score': 0.12}]
chr12 GH12I010243 10243462 10244610 0.91 [{'connected_gene': 'ENSG00000255958', 'score': 11.77}, {'connected_gene': 'GABARAPL1', 'score': 11.75}, {'connected_gene': 'CLEC7A', 'score': 10.82}, {'connected_gene': 'KLRD1', 'score': 8.58}, {'connected_gene': 'LOC105369656', 'score': 0.25}]
chr12 GH12I010285 10285545 10286912 0.87 [{'connected_gene': 'ENSG00000255958', 'score': 10.63}, {'connected_gene': 'GABARAPL1', 'score': 10.63}, {'connected_gene': 'KLRD1', 'score': 8.44}, {'connected_gene': 'LOC105369656', 'score': 0.44}]
chr12 GH12I010292 10292622 10294396 0.77 [{'connected_gene': 'ENSG00000255958', 'score': 10.62}, {'connected_gene': 'GABARAPL1', 'score': 10.62}, {'connected_gene': 'KLRD1', 'score': 5.01}, {'connected_gene': 'LOC105369656', 'score': 0.77}, {'connected_gene': 'ENSG00000256288', 'score': 0.26}]
chr12 GH12I010300 10300252 10302179 0.2 [{'connected_gene': 'ENSG00000255958', 'score': 11.07}, {'connected_gene': 'GABARAPL1', 'score': 11.07}, {'connected_gene': 'KLRC1', 'score': 10.63}, {'connected_gene': 'KLRD1', 'score': 6.72}, {'connected_gene': 'YBX3', 'score': 4.17}, {'connected_gene': 'LOC105369656', 'score': 0.44}, {'connected_gene': 'ENSG00000256288', 'score': 0.28}]
chr12 GH12I010249 10249245 10250899 0.38 [{'connected_gene': 'ENSG00000255958', 'score': 11.21}, {'connected_gene': 'GABARAPL1', 'score': 11.21}, {'connected_gene': 'KLRC1', 'score': 9.77}, {'connected_gene': 'KLRD1', 'score': 8.96}, {'connected_gene': 'LOC105369656', 'score': 0.26}]
chr12 GH12I010318 10318732 10323167 0.46 [{'connected_gene': 'ENSG00000255958', 'score': 10.06}, {'connected_gene': 'GABARAPL1', 'score': 10.06}, {'connected_gene': 'TMEM52B', 'score': 9.91}, {'connected_gene': 'KLRC1', 'score': 9.79}, {'connected_gene': 'KLRD1', 'score': 7.03}, {'connected_gene': 'ENSG00000256288', 'score': 0.37}, {'connected_gene': 'LOC105369656', 'score': 0.31}]
chr12 GH12I010331 10331683 10332147 0.64 [{'connected_gene': 'ENSG00000256288', 'score': 0.44}, {'connected_gene': 'LOC105369656', 'score': 0.26}, {'connected_gene': 'KLRD1', 'score': 0.14}]

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