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
ENST00000228515 [[51454989, 51458452], [51461455, 51461752], [51467605, 51467865], [51470193, 51470430], [51477121, 51477333]] [[51457528, 51458452], [51461455, 51461752], [51467605, 51467865], [51470193, 51470344]]
ENST00000548206 [[51461681, 51461752], [51467605, 51467865], [51477011, 51477365]] [[51461681, 51461752], [51467605, 51467734]]
ENST00000548981 [[51467672, 51467865], [51470193, 51470430], [51477011, 51477426]] [[51467672, 51467865], [51470193, 51470344]]
ENST00000550533 [[51467710, 51467865], [51470193, 51470618]] None
ENST00000552899 [[51467757, 51467865], [51470193, 51470430], [51476789, 51476893]] [[51467757, 51467865], [51470193, 51470344]]
ENST00000546935 [[51467840, 51467865], [51470193, 51470430], [51476303, 51476477], [51477121, 51477366]] [[51467840, 51467865], [51470193, 51470344]]
ENST00000552680 [[51470198, 51470280], [51470403, 51470430], [51475210, 51475244], [51476303, 51476410], [51477121, 51477447]] None
ENST00000550461 [[51470351, 51470430], [51475210, 51475279], [51476303, 51476477], [51477121, 51477379]] None
NR_045072 [[51454987, 51458452], [51461455, 51461752], [51467605, 51467865], [51470193, 51470430], [51477011, 51477437]] None
NM_030809 [[51454987, 51458452], [51461455, 51461752], [51467605, 51467865], [51470193, 51470430], [51477121, 51477454]] [[51457528, 51458452], [51461455, 51461752], [51467605, 51467865], [51470193, 51470344]]
Promoter
Chrom Start End Description
chr12 51477368 51477386 CAGE_peak_1_at_CSRNP2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I051237 51237906 51242613 2.28 [{'connected_gene': 'DAZAP2', 'score': 550.77}, {'connected_gene': 'HNRNPA3P10', 'score': 35.19}, {'connected_gene': 'ATF1', 'score': 17.87}, {'connected_gene': 'TFCP2', 'score': 14.44}, {'connected_gene': 'LIMA1', 'score': 12.49}, {'connected_gene': 'LETMD1', 'score': 10.65}, {'connected_gene': 'CSRNP2', 'score': 10.61}, {'connected_gene': 'POU6F1', 'score': 10.05}, {'connected_gene': 'ATG101', 'score': 9.84}, {'connected_gene': 'LOC102723983', 'score': 0.31}]
chr12 GH12I051951 51951001 51956887 2.41 [{'connected_gene': 'ACVR1B', 'score': 556.66}, {'connected_gene': 'CSRNP2', 'score': 9.92}, {'connected_gene': 'GC12P051989', 'score': 0.29}]
chr12 GH12I051143 51143043 51143352 0.32 [{'connected_gene': 'CSRNP2', 'score': 17.69}, {'connected_gene': 'RNU6-1273P', 'score': 10.52}, {'connected_gene': 'LETMD1', 'score': 10.35}, {'connected_gene': 'GC12M051157', 'score': 0.39}, {'connected_gene': 'ENSG00000200953', 'score': 0.39}, {'connected_gene': 'PHBP19', 'score': 0.37}, {'connected_gene': 'TFCP2', 'score': 0.31}]
chr12 GH12I051081 51081988 51084247 2.07 [{'connected_gene': 'CSRNP2', 'score': 559.96}, {'connected_gene': 'PIR36826', 'score': 550.77}, {'connected_gene': 'HNRNPA3P10', 'score': 36.97}, {'connected_gene': 'SMARCD1', 'score': 26.07}, {'connected_gene': 'LETMD1', 'score': 14.08}, {'connected_gene': 'TFCP2', 'score': 10.63}, {'connected_gene': 'LIMA1', 'score': 9.89}, {'connected_gene': 'ATF1', 'score': 9.74}, {'connected_gene': 'GC12M051084', 'score': 0.44}]
chr12 GH12I051084 51084601 51084800 0.2 [{'connected_gene': 'CSRNP2', 'score': 550.77}, {'connected_gene': 'GC12M051084', 'score': 0.44}]
chr12 GH12I051171 51171590 51174614 2.08 [{'connected_gene': 'TFCP2', 'score': 554.96}, {'connected_gene': 'HNRNPA3P10', 'score': 12.79}, {'connected_gene': 'SLC11A2', 'score': 9.79}, {'connected_gene': 'CSRNP2', 'score': 6.61}, {'connected_gene': 'RNU6-199P', 'score': 0.39}]
chr12 GH12I051268 51268807 51271897 2.17 [{'connected_gene': 'SMAGP', 'score': 557.84}, {'connected_gene': 'LOC102723983', 'score': 550.77}, {'connected_gene': 'POU6F1', 'score': 16.21}, {'connected_gene': 'BIN2', 'score': 11.7}, {'connected_gene': 'CELA1', 'score': 11.5}, {'connected_gene': 'DAZAP2', 'score': 11.36}, {'connected_gene': 'CSRNP2', 'score': 10.03}]
chr12 GH12I051186 51186194 51189394 0.75 [{'connected_gene': 'POU6F1', 'score': 13.27}, {'connected_gene': 'DAZAP2', 'score': 11.22}, {'connected_gene': 'LETMD1', 'score': 10.84}, {'connected_gene': 'CELA1', 'score': 10.52}, {'connected_gene': 'RNU6-1273P', 'score': 10.37}, {'connected_gene': 'SLC11A2', 'score': 9.37}, {'connected_gene': 'CSRNP2', 'score': 6.67}, {'connected_gene': 'SCN8A', 'score': 4.2}, {'connected_gene': 'ENSG00000278126', 'score': 0.39}, {'connected_gene': 'TFCP2', 'score': 0.39}]
chr12 GH12I051274 51274827 51275758 0.38 [{'connected_gene': 'POU6F1', 'score': 11.87}, {'connected_gene': 'BIN2', 'score': 11.72}, {'connected_gene': 'CELA1', 'score': 11.51}, {'connected_gene': 'DAZAP2', 'score': 11.34}, {'connected_gene': 'CSRNP2', 'score': 10.03}, {'connected_gene': 'SMAGP', 'score': 7.09}, {'connected_gene': 'LOC105369767', 'score': 0.25}]
chr12 GH12I051280 51280644 51282571 0.54 [{'connected_gene': 'BIN2', 'score': 11.13}, {'connected_gene': 'DAZAP2', 'score': 11.0}, {'connected_gene': 'CELA1', 'score': 10.62}, {'connected_gene': 'SLC4A8', 'score': 10.34}, {'connected_gene': 'GALNT6', 'score': 10.33}, {'connected_gene': 'CSRNP2', 'score': 10.17}, {'connected_gene': 'RNU6-1273P', 'score': 10.04}, {'connected_gene': 'LETMD1', 'score': 10.01}, {'connected_gene': 'SLC11A2', 'score': 9.98}, {'connected_gene': 'SMAGP', 'score': 7.47}, {'connected_gene': 'POU6F1', 'score': 4.71}, {'connected_gene': 'LOC105369767', 'score': 0.26}]
chr12 GH12I051291 51291801 51292800 0.97 [{'connected_gene': 'BIN2', 'score': 11.54}, {'connected_gene': 'DAZAP2', 'score': 10.4}, {'connected_gene': 'RNU6-1273P', 'score': 10.3}, {'connected_gene': 'CELA1', 'score': 10.3}, {'connected_gene': 'LETMD1', 'score': 10.21}, {'connected_gene': 'CSRNP2', 'score': 10.15}, {'connected_gene': 'SLC11A2', 'score': 10.13}, {'connected_gene': 'SMAGP', 'score': 0.34}, {'connected_gene': 'LOC105369767', 'score': 0.29}]
chr12 GH12I051349 51349257 51349406 0.2 [{'connected_gene': 'BIN2', 'score': 11.69}, {'connected_gene': 'RNU6-1273P', 'score': 10.08}, {'connected_gene': 'SLC11A2', 'score': 10.07}, {'connected_gene': 'CSRNP2', 'score': 9.9}, {'connected_gene': 'CELA1', 'score': 0.77}, {'connected_gene': 'SLC4A8', 'score': 0.26}]
chr12 GH12I051126 51126458 51126607 0.2 [{'connected_gene': 'PHBP19', 'score': 550.77}, {'connected_gene': 'POU6F1', 'score': 11.61}, {'connected_gene': 'CSRNP2', 'score': 10.93}, {'connected_gene': 'LETMD1', 'score': 10.55}, {'connected_gene': 'DAZAP2', 'score': 10.29}, {'connected_gene': 'RNU6-1273P', 'score': 10.16}, {'connected_gene': 'SLC11A2', 'score': 9.99}, {'connected_gene': 'BIN2', 'score': 9.65}, {'connected_gene': 'GC12M051157', 'score': 0.29}, {'connected_gene': 'ENSG00000200953', 'score': 0.29}, {'connected_gene': 'TFCP2', 'score': 0.25}]
chr12 GH12I051004 51004311 51006972 0.92 [{'connected_gene': 'SLC11A2', 'score': 34.66}, {'connected_gene': 'CSRNP2', 'score': 9.24}, {'connected_gene': 'METTL7A', 'score': 4.94}, {'connected_gene': 'RNU7-39P', 'score': 0.44}, {'connected_gene': 'ENSG00000274797', 'score': 0.23}]
chr12 GH12I050979 50979790 50982228 0.74 [{'connected_gene': 'SLC11A2', 'score': 47.8}, {'connected_gene': 'CSRNP2', 'score': 17.93}, {'connected_gene': 'RNU6-1273P', 'score': 11.1}, {'connected_gene': 'LETMD1', 'score': 9.89}, {'connected_gene': 'RNU7-39P', 'score': 0.31}, {'connected_gene': 'ENSG00000274797', 'score': 0.31}]
chr12 GH12I051019 51019005 51030124 2.55 [{'connected_gene': 'SLC11A2', 'score': 585.82}, {'connected_gene': 'SMARCD1', 'score': 63.66}, {'connected_gene': 'HNRNPA3P10', 'score': 59.14}, {'connected_gene': 'ATF1', 'score': 51.19}, {'connected_gene': 'LIMA1', 'score': 43.24}, {'connected_gene': 'LETMD1', 'score': 41.3}, {'connected_gene': 'TFCP2', 'score': 34.34}, {'connected_gene': 'CSRNP2', 'score': 26.8}, {'connected_gene': 'ENSG00000257298', 'score': 21.8}, {'connected_gene': 'ENSG00000272368', 'score': 4.37}, {'connected_gene': 'GC12M051017', 'score': 0.39}, {'connected_gene': 'RNU6-87P', 'score': 0.39}]
chr12 GH12I050984 50984349 50988026 1.01 [{'connected_gene': 'SLC11A2', 'score': 48.47}, {'connected_gene': 'LETMD1', 'score': 19.49}, {'connected_gene': 'CSRNP2', 'score': 18.1}, {'connected_gene': 'RNU6-1273P', 'score': 11.7}, {'connected_gene': 'RNU7-39P', 'score': 0.34}, {'connected_gene': 'ENSG00000274797', 'score': 0.29}]
chr12 GH12I051183 51183335 51185549 0.64 [{'connected_gene': 'SLC11A2', 'score': 19.13}, {'connected_gene': 'LETMD1', 'score': 14.18}, {'connected_gene': 'POU6F1', 'score': 13.13}, {'connected_gene': 'CSRNP2', 'score': 11.27}, {'connected_gene': 'DAZAP2', 'score': 11.25}, {'connected_gene': 'CELA1', 'score': 10.51}, {'connected_gene': 'RNU6-1273P', 'score': 10.08}, {'connected_gene': 'TFCP2', 'score': 4.58}, {'connected_gene': 'SCN8A', 'score': 4.3}, {'connected_gene': 'ENSG00000278126', 'score': 0.37}]
chr12 GH12I051071 51071212 51072451 0.52 [{'connected_gene': 'SLC11A2', 'score': 38.02}, {'connected_gene': 'LETMD1', 'score': 25.57}, {'connected_gene': 'RNU6-1273P', 'score': 11.27}, {'connected_gene': 'CSRNP2', 'score': 9.77}, {'connected_gene': 'PIR36826', 'score': 0.39}]
chr12 GH12I051140 51140265 51140468 0.22 [{'connected_gene': 'SLC11A2', 'score': 12.52}, {'connected_gene': 'RNU6-1273P', 'score': 10.52}, {'connected_gene': 'CSRNP2', 'score': 10.47}, {'connected_gene': 'LETMD1', 'score': 10.35}, {'connected_gene': 'POU6F1', 'score': 1.41}, {'connected_gene': 'PHBP19', 'score': 0.39}, {'connected_gene': 'GC12M051157', 'score': 0.37}, {'connected_gene': 'ENSG00000200953', 'score': 0.37}, {'connected_gene': 'TFCP2', 'score': 0.29}]
chr12 GH12I051008 51008411 51010429 1.33 [{'connected_gene': 'SLC11A2', 'score': 585.41}, {'connected_gene': 'RNU7-39P', 'score': 550.77}, {'connected_gene': 'GC12P051011', 'score': 550.77}, {'connected_gene': 'CSRNP2', 'score': 8.29}, {'connected_gene': 'TFCP2', 'score': 4.34}, {'connected_gene': 'ENSG00000274797', 'score': 0.22}]
chr12 GH12I051884 51884031 51888400 2.22 [{'connected_gene': 'ANKRD33', 'score': 550.77}, {'connected_gene': 'HNRNPA3P10', 'score': 12.92}, {'connected_gene': 'TFCP2', 'score': 10.5}, {'connected_gene': 'CSRNP2', 'score': 9.92}, {'connected_gene': 'NR4A1', 'score': 5.4}, {'connected_gene': 'KRT78', 'score': 4.64}, {'connected_gene': 'FIGNL2', 'score': 0.28}, {'connected_gene': 'GC12P051832', 'score': 0.22}, {'connected_gene': 'GC12P051838', 'score': 0.22}, {'connected_gene': 'GC12P051835', 'score': 0.22}, {'connected_gene': 'GC12P051836', 'score': 0.22}, {'connected_gene': 'GC12P051837', 'score': 0.22}]
chr12 GH12I050692 50692171 50694333 0.2 [{'connected_gene': 'ATF1', 'score': 15.21}, {'connected_gene': 'RNU6-769P', 'score': 10.87}, {'connected_gene': 'DIP2B', 'score': 10.12}, {'connected_gene': 'CSRNP2', 'score': 10.01}, {'connected_gene': 'LIMA1', 'score': 9.53}, {'connected_gene': 'GC12M050681', 'score': 0.39}, {'connected_gene': 'GC12P050744', 'score': 0.23}]
chr12 GH12I051118 51118511 51119447 0.57 [{'connected_gene': 'LETMD1', 'score': 19.56}, {'connected_gene': 'DAZAP2', 'score': 11.28}, {'connected_gene': 'CSRNP2', 'score': 11.27}, {'connected_gene': 'RNU6-1273P', 'score': 10.8}, {'connected_gene': 'BIN2', 'score': 9.72}, {'connected_gene': 'PHBP19', 'score': 0.44}, {'connected_gene': 'RPL35AP29', 'score': 0.39}, {'connected_gene': 'TFCP2', 'score': 0.23}]
chr12 GH12I051046 51046868 51049913 2.09 [{'connected_gene': 'LETMD1', 'score': 566.22}, {'connected_gene': 'SLC11A2', 'score': 32.23}, {'connected_gene': 'SMARCD1', 'score': 13.38}, {'connected_gene': 'HNRNPA3P10', 'score': 12.79}, {'connected_gene': 'CSRNP2', 'score': 11.15}, {'connected_gene': 'ENSG00000257298', 'score': 11.02}, {'connected_gene': 'PIR36826', 'score': 0.29}]
chr12 GH12I051074 51074376 51075159 0.2 [{'connected_gene': 'LETMD1', 'score': 25.81}, {'connected_gene': 'SLC11A2', 'score': 16.08}, {'connected_gene': 'RNU6-1273P', 'score': 11.26}, {'connected_gene': 'CSRNP2', 'score': 9.63}, {'connected_gene': 'PIR36826', 'score': 0.44}]
chr12 GH12I051075 51075366 51077084 0.2 [{'connected_gene': 'LETMD1', 'score': 20.55}, {'connected_gene': 'RNU6-1273P', 'score': 11.26}, {'connected_gene': 'SLC11A2', 'score': 11.12}, {'connected_gene': 'CSRNP2', 'score': 0.44}, {'connected_gene': 'PIR36826', 'score': 0.44}]
chr12 GH12I050166 50166225 50168543 2.03 [{'connected_gene': 'CERS5', 'score': 582.95}, {'connected_gene': 'ENSG00000257964', 'score': 11.69}, {'connected_gene': 'CSRNP2', 'score': 11.59}, {'connected_gene': 'PRPF40B', 'score': 10.73}, {'connected_gene': 'GC12P050120', 'score': 0.25}, {'connected_gene': 'GC12M050135', 'score': 0.23}]
chr12 GH12I051348 51348045 51349068 0.43 [{'connected_gene': 'CELA1', 'score': 550.77}, {'connected_gene': 'ATF1', 'score': 16.45}, {'connected_gene': 'HNRNPA3P10', 'score': 16.14}, {'connected_gene': 'BIN2', 'score': 11.69}, {'connected_gene': 'RNU6-1273P', 'score': 10.08}, {'connected_gene': 'SLC11A2', 'score': 10.08}, {'connected_gene': 'CSRNP2', 'score': 9.9}, {'connected_gene': 'SLC4A8', 'score': 0.26}]
chr12 GH12I051358 51358440 51368053 0.78 [{'connected_gene': 'GALNT6', 'score': 21.55}, {'connected_gene': 'SLC4A8', 'score': 12.07}, {'connected_gene': 'BIN2', 'score': 11.11}, {'connected_gene': 'CSRNP2', 'score': 10.4}, {'connected_gene': 'DAZAP2', 'score': 10.31}, {'connected_gene': 'SLC11A2', 'score': 9.97}, {'connected_gene': 'RNU6-1273P', 'score': 9.97}, {'connected_gene': 'CELA1', 'score': 5.23}, {'connected_gene': 'POU6F1', 'score': 4.87}]
chr12 GH12I051387 51387374 51396449 2.57 [{'connected_gene': 'GALNT6', 'score': 565.23}, {'connected_gene': 'SLC4A8', 'score': 556.37}, {'connected_gene': 'BIN2', 'score': 11.71}, {'connected_gene': 'SLC11A2', 'score': 11.07}, {'connected_gene': 'CELA1', 'score': 10.97}, {'connected_gene': 'DAZAP2', 'score': 6.7}, {'connected_gene': 'CSRNP2', 'score': 2.09}]
chr12 GH12I051357 51357210 51358056 0.66 [{'connected_gene': 'GALNT6', 'score': 17.34}, {'connected_gene': 'BIN2', 'score': 11.44}, {'connected_gene': 'SLC4A8', 'score': 11.05}, {'connected_gene': 'CSRNP2', 'score': 10.4}, {'connected_gene': 'DAZAP2', 'score': 10.31}, {'connected_gene': 'LETMD1', 'score': 10.27}, {'connected_gene': 'RNU6-1273P', 'score': 10.1}, {'connected_gene': 'SLC11A2', 'score': 9.97}, {'connected_gene': 'CELA1', 'score': 5.22}]
chr12 GH12I051368 51368462 51372910 1.74 [{'connected_gene': 'GALNT6', 'score': 19.29}, {'connected_gene': 'CELA1', 'score': 16.23}, {'connected_gene': 'BIN2', 'score': 12.63}, {'connected_gene': 'SLC4A8', 'score': 12.09}, {'connected_gene': 'DAZAP2', 'score': 2.41}, {'connected_gene': 'CSRNP2', 'score': 1.7}, {'connected_gene': 'FIGNL2', 'score': 1.63}, {'connected_gene': 'SLC11A2', 'score': 1.54}]
chr12 GH12I051077 51077618 51078590 0.56 [{'connected_gene': 'PIR36826', 'score': 0.77}, {'connected_gene': 'CSRNP2', 'score': 0.44}, {'connected_gene': 'LETMD1', 'score': 0.29}]
chr12 GH12I051069 51069822 51070534 0.84 [{'connected_gene': 'ENSG00000272368', 'score': 19.88}, {'connected_gene': 'POU6F1', 'score': 14.17}, {'connected_gene': 'LETMD1', 'score': 11.86}, {'connected_gene': 'RNU6-1273P', 'score': 11.27}, {'connected_gene': 'SLC11A2', 'score': 11.13}, {'connected_gene': 'CERS5', 'score': 10.85}, {'connected_gene': 'CSRNP2', 'score': 9.76}, {'connected_gene': 'PIR36826', 'score': 0.39}]
chr12 GH12I050930 50930991 50936130 1.63 [{'connected_gene': 'ENSG00000274156', 'score': 550.77}, {'connected_gene': 'SLC11A2', 'score': 42.73}, {'connected_gene': 'RNU6-1273P', 'score': 10.47}, {'connected_gene': 'CSRNP2', 'score': 6.94}, {'connected_gene': 'METTL7A', 'score': 4.83}]
chr12 GH12I050399 50399903 50403862 2.12 [{'connected_gene': 'GC12M050402', 'score': 550.77}, {'connected_gene': 'LARP4', 'score': 550.44}, {'connected_gene': 'LIMA1', 'score': 64.63}, {'connected_gene': 'SMARCD1', 'score': 59.48}, {'connected_gene': 'PRPF40B', 'score': 49.95}, {'connected_gene': 'BCDIN3D', 'score': 42.33}, {'connected_gene': 'ATF1', 'score': 39.12}, {'connected_gene': 'LOC100422296', 'score': 35.72}, {'connected_gene': 'ENSG00000257298', 'score': 30.34}, {'connected_gene': 'ENSG00000257964', 'score': 23.75}, {'connected_gene': 'TFCP2', 'score': 22.97}, {'connected_gene': 'CERS5', 'score': 21.79}, {'connected_gene': 'CSRNP2', 'score': 20.39}, {'connected_gene': 'FAM186A', 'score': 11.94}, {'connected_gene': 'FAM186B', 'score': 10.86}, {'connected_gene': 'RNU6-1093P', 'score': 10.18}, {'connected_gene': 'COX14', 'score': 9.61}]

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