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
ENST00000399916 [[25226001, 25229157], [25233749, 25233908], [25245730, 25245835], [25254064, 25254221], [25256077, 25256343], [25291004, 25291501]] [[25228612, 25229157], [25233749, 25233908], [25245730, 25245835], [25254064, 25254221], [25256077, 25256343], [25291004, 25291062]]
ENST00000308873 [[25226008, 25229157], [25233749, 25233908], [25245730, 25245835], [25254064, 25254221], [25256077, 25256368]] [[25228612, 25229157], [25233749, 25233908], [25245730, 25245835], [25254064, 25254221], [25256077, 25256359]]
ENST00000338888 [[25227519, 25229157], [25233749, 25233908], [25245730, 25245835], [25254064, 25254221], [25256077, 25256343], [25291004, 25291159], [25291326, 25291475]] [[25228612, 25229157], [25233749, 25233908], [25245730, 25245835], [25254064, 25254221], [25256077, 25256343], [25291004, 25291062]]
ENST00000540420 [[25228268, 25229157], [25233749, 25233908], [25245730, 25245835], [25254064, 25254221], [25255530, 25255612]] [[25228612, 25229157], [25233749, 25233908], [25245730, 25245835], [25254064, 25254221], [25255530, 25255533]]
ENST00000496967 [[25229062, 25229157], [25233749, 25233908], [25245730, 25245835], [25254064, 25254221], [25255233, 25255289]] None
ENST00000479341 [[25256227, 25256343], [25291004, 25291070], [25291510, 25291612]] None
NM_004350 [[25226001, 25229157], [25233749, 25233908], [25245730, 25245835], [25254064, 25254221], [25256077, 25256770]] [[25228612, 25229157], [25233749, 25233908], [25245730, 25245835], [25254064, 25254221], [25256077, 25256359]]
NM_001031680 [[25226001, 25229157], [25233749, 25233908], [25245730, 25245835], [25254064, 25254221], [25256077, 25256343], [25291004, 25291501]] [[25228612, 25229157], [25233749, 25233908], [25245730, 25245835], [25254064, 25254221], [25256077, 25256343], [25291004, 25291062]]
NM_001320672 [[25226001, 25229157], [25233749, 25233908], [25245730, 25245835], [25254064, 25254221], [25256077, 25256343], [25291004, 25291159], [25291326, 25291501]] [[25228612, 25229157], [25233749, 25233908], [25245730, 25245835], [25254064, 25254221], [25256077, 25256343], [25291004, 25291062]]
Promoter
Chrom Start End Description
chr1 25255329 25255339 CAGE_peak_21_at_RUNX3_5end
chr1 25255763 25255774 CAGE_peak_10_at_RUNX3_5end
chr1 25256175 25256228 CAGE_peak_5_at_RUNX3_5end
chr1 25256263 25256274 CAGE_peak_14_at_RUNX3_5end
chr1 25256439 25256476 CAGE_peak_3_at_RUNX3_5end
chr1 25256756 25256774 CAGE_peak_1_at_RUNX3_5end
chr1 25291275 25291301 CAGE_peak_12_at_RUNX3_5end
chr1 25291461 25291472 CAGE_peak_11_at_RUNX3_5end
chr1 25291475 25291511 CAGE_peak_2_at_RUNX3_5end
chr1 25291620 25291635 CAGE_peak_4_at_RUNX3_5end
chr1 25291648 25291665 CAGE_peak_7_at_RUNX3_5end
chr1 25291678 25291685 CAGE_peak_8_at_RUNX3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I024961 24961995 24967647 2.1 [{'connected_gene': 'RUNX3', 'score': 552.92}, {'connected_gene': 'SELENON', 'score': 4.8}, {'connected_gene': 'RSRP1', 'score': 3.94}, {'connected_gene': 'SYF2', 'score': 2.19}, {'connected_gene': 'GC01M024954', 'score': 0.44}, {'connected_gene': 'GC01M024956', 'score': 0.44}, {'connected_gene': 'GC01M024930', 'score': 0.39}, {'connected_gene': 'GC01M024955', 'score': 0.31}, {'connected_gene': 'PIR43315', 'score': 0.31}, {'connected_gene': 'LOC105376878', 'score': 0.29}]
chr1 GH01I025017 25017538 25018400 1.16 [{'connected_gene': 'RUNX3', 'score': 2.63}, {'connected_gene': 'RSRP1', 'score': 2.43}, {'connected_gene': 'SYF2', 'score': 1.47}, {'connected_gene': 'MIR4425', 'score': 0.44}, {'connected_gene': 'GC01M024955', 'score': 0.31}]
chr1 GH01I025140 25140234 25140610 1.14 [{'connected_gene': 'RUNX3', 'score': 1.79}, {'connected_gene': 'LOC391020', 'score': 0.39}, {'connected_gene': 'ENSG00000231953', 'score': 0.2}]
chr1 GH01I025098 25098685 25101096 0.89 [{'connected_gene': 'RUNX3', 'score': 12.15}, {'connected_gene': 'LOC105376878', 'score': 12.13}, {'connected_gene': 'SELENON', 'score': 5.01}, {'connected_gene': 'ENSG00000233755', 'score': 0.39}, {'connected_gene': 'LOC105376879', 'score': 0.22}]
chr1 GH01I025028 25028663 25029607 1.41 [{'connected_gene': 'RUNX3', 'score': 16.52}, {'connected_gene': 'LOC105376878', 'score': 12.09}, {'connected_gene': 'MAN1C1', 'score': 4.12}, {'connected_gene': 'RSRP1', 'score': 3.65}, {'connected_gene': 'SYF2', 'score': 2.09}, {'connected_gene': 'MIR4425', 'score': 0.44}, {'connected_gene': 'LOC105376879', 'score': 0.39}]
chr1 GH01I025025 25025689 25025844 0.42 [{'connected_gene': 'RUNX3', 'score': 14.36}, {'connected_gene': 'LOC105376878', 'score': 11.97}, {'connected_gene': 'RSRP1', 'score': 2.15}, {'connected_gene': 'SYF2', 'score': 1.4}, {'connected_gene': 'MIR4425', 'score': 0.77}, {'connected_gene': 'LOC105376879', 'score': 0.37}]
chr1 GH01I025095 25095230 25096088 0.52 [{'connected_gene': 'RUNX3', 'score': 11.58}, {'connected_gene': 'LOC105376878', 'score': 11.55}, {'connected_gene': 'ENSG00000233755', 'score': 0.37}, {'connected_gene': 'LOC105376879', 'score': 0.23}]
chr1 GH01I025101 25101490 25101699 0.88 [{'connected_gene': 'RUNX3', 'score': 12.15}, {'connected_gene': 'LOC105376878', 'score': 12.13}, {'connected_gene': 'ENSG00000233755', 'score': 0.39}, {'connected_gene': 'LOC105376879', 'score': 0.21}]
chr1 GH01I025000 25000879 25001723 0.38 [{'connected_gene': 'RUNX3', 'score': 12.53}, {'connected_gene': 'LOC105376878', 'score': 12.46}, {'connected_gene': 'GC01M024955', 'score': 0.44}, {'connected_gene': 'MIR4425', 'score': 0.34}]
chr1 GH01I024985 24985190 24985339 0.46 [{'connected_gene': 'RUNX3', 'score': 12.72}, {'connected_gene': 'LOC105376878', 'score': 12.61}, {'connected_gene': 'GC01M024955', 'score': 0.44}, {'connected_gene': 'GC01M024930', 'score': 0.44}]
chr1 GH01I024988 24988250 24988399 0.54 [{'connected_gene': 'RUNX3', 'score': 12.69}, {'connected_gene': 'LOC105376878', 'score': 12.57}, {'connected_gene': 'GC01M024955', 'score': 0.77}, {'connected_gene': 'GC01M024930', 'score': 0.44}]
chr1 GH01I024952 24952601 24952839 1.2 [{'connected_gene': 'RUNX3', 'score': 0.39}, {'connected_gene': 'PIR43315', 'score': 0.39}, {'connected_gene': 'LOC105376878', 'score': 0.34}, {'connected_gene': 'GC01M024930', 'score': 0.31}]
chr1 GH01I024908 24908376 24931125 2.76 [{'connected_gene': 'RUNX3', 'score': 588.88}, {'connected_gene': 'MIR6731', 'score': 550.77}, {'connected_gene': 'RCAN3', 'score': 11.55}, {'connected_gene': 'SRSF10', 'score': 11.0}, {'connected_gene': 'ENSG00000231953', 'score': 10.8}, {'connected_gene': 'RNU6-1208P', 'score': 10.27}, {'connected_gene': 'RSRP1', 'score': 6.05}, {'connected_gene': 'ENSG00000225643', 'score': 5.85}, {'connected_gene': 'ENSG00000261349', 'score': 4.59}, {'connected_gene': 'SRRM1', 'score': 3.34}, {'connected_gene': 'SYF2', 'score': 1.94}, {'connected_gene': 'GC01M024929', 'score': 0.39}, {'connected_gene': 'GC01M024930', 'score': 0.22}]
chr1 GH01I025018 25018561 25019819 1.23 [{'connected_gene': 'RUNX3', 'score': 1.7}, {'connected_gene': 'MIR4425', 'score': 0.77}, {'connected_gene': 'GC01M024955', 'score': 0.31}]
chr1 GH01I025029 25027885 25028013 0.7 [{'connected_gene': 'RSRP1', 'score': 3.75}, {'connected_gene': 'RUNX3', 'score': 2.43}, {'connected_gene': 'SYF2', 'score': 2.06}, {'connected_gene': 'MIR4425', 'score': 0.77}, {'connected_gene': 'LOC105376879', 'score': 0.39}]
chr1 GH01I025027 25027049 25027378 1 [{'connected_gene': 'RSRP1', 'score': 4.2}, {'connected_gene': 'RUNX3', 'score': 2.87}, {'connected_gene': 'SYF2', 'score': 2.14}, {'connected_gene': 'MIR4425', 'score': 0.77}, {'connected_gene': 'LOC105376879', 'score': 0.39}]
chr1 GH01I025336 25336200 25340001 2.46 [{'connected_gene': 'RSRP1', 'score': 553.12}, {'connected_gene': 'PIR37033', 'score': 550.77}, {'connected_gene': 'TMEM50A', 'score': 550.77}, {'connected_gene': 'ENSG00000259984', 'score': 550.77}, {'connected_gene': 'RHCE', 'score': 43.3}, {'connected_gene': 'RUNX3', 'score': 2.91}, {'connected_gene': 'MTFR1L', 'score': 1.28}]
chr1 GH01I025817 25817688 25822374 2.27 [{'connected_gene': 'MTFR1L', 'score': 593.51}, {'connected_gene': 'SELENON', 'score': 30.21}, {'connected_gene': 'ARID1A', 'score': 18.63}, {'connected_gene': 'SYF2', 'score': 17.96}, {'connected_gene': 'HMGN2', 'score': 16.32}, {'connected_gene': 'PIGV', 'score': 13.67}, {'connected_gene': 'SH3BGRL3', 'score': 10.51}, {'connected_gene': 'LOC101928728', 'score': 10.47}, {'connected_gene': 'ENSG00000261349', 'score': 10.4}, {'connected_gene': 'RPS6KA1', 'score': 9.94}, {'connected_gene': 'RUNX3', 'score': 9.85}, {'connected_gene': 'LOC101928324', 'score': 9.73}, {'connected_gene': 'LOC646471', 'score': 0.77}, {'connected_gene': 'ENSG00000255054', 'score': 0.44}]
chr1 GH01I025231 25231221 25234219 2.56 [{'connected_gene': 'SYF2', 'score': 563.24}, {'connected_gene': 'ENSG00000284602', 'score': 550.77}, {'connected_gene': 'GC01P025233', 'score': 550.77}, {'connected_gene': 'RSRP1', 'score': 13.61}, {'connected_gene': 'RUNX3', 'score': 3.52}, {'connected_gene': 'ENSG00000284657', 'score': 0.44}]
chr1 GH01I025026 25026699 25026920 0.79 [{'connected_gene': 'MYOM3', 'score': 4.53}, {'connected_gene': 'RSRP1', 'score': 4.05}, {'connected_gene': 'RUNX3', 'score': 2.27}, {'connected_gene': 'SYF2', 'score': 2.08}, {'connected_gene': 'MIR4425', 'score': 0.77}, {'connected_gene': 'LOC105376879', 'score': 0.39}]
chr1 GH01I024480 24480802 24484251 1.27 [{'connected_gene': 'RCAN3', 'score': 24.87}, {'connected_gene': 'NIPAL3', 'score': 7.63}, {'connected_gene': 'RUNX3', 'score': 7.15}, {'connected_gene': 'SRRM1', 'score': 2.69}, {'connected_gene': 'GC01P024476', 'score': 0.44}]
chr1 GH01I024506 24506638 24509010 1.42 [{'connected_gene': 'RCAN3', 'score': 32.43}, {'connected_gene': 'NCMAP', 'score': 11.39}, {'connected_gene': 'NIPAL3', 'score': 9.4}, {'connected_gene': 'RUNX3', 'score': 3.02}, {'connected_gene': 'SRRM1', 'score': 2.0}, {'connected_gene': 'RCAN3AS', 'score': 0.44}, {'connected_gene': 'GC01M024529', 'score': 0.34}]
chr1 GH01I023975 23975616 23982057 2.92 [{'connected_gene': 'SRSF10', 'score': 615.2}, {'connected_gene': 'ELOA', 'score': 42.13}, {'connected_gene': 'SRRM1', 'score': 40.08}, {'connected_gene': 'LINC01355', 'score': 24.39}, {'connected_gene': 'KDM1A', 'score': 22.27}, {'connected_gene': 'RPL11', 'score': 13.67}, {'connected_gene': 'ZNF436-AS1', 'score': 12.44}, {'connected_gene': 'PNRC2', 'score': 12.04}, {'connected_gene': 'CNR2', 'score': 11.86}, {'connected_gene': 'RUNX3', 'score': 9.85}, {'connected_gene': 'HNRNPR', 'score': 9.8}]
chr1 GH01I024897 24897890 24898039 0.69 [{'connected_gene': 'LOC105376878', 'score': 11.57}, {'connected_gene': 'RUNX3', 'score': 11.48}, {'connected_gene': 'MIR6731', 'score': 0.34}, {'connected_gene': 'PIR31417', 'score': 0.29}]
chr1 GH01I024891 24891090 24891239 0.49 [{'connected_gene': 'LOC105376878', 'score': 11.54}, {'connected_gene': 'RUNX3', 'score': 11.47}, {'connected_gene': 'PIR31417', 'score': 0.31}, {'connected_gene': 'MIR6731', 'score': 0.31}]
chr1 GH01I024900 24898170 24898319 0.89 [{'connected_gene': 'LOC105376878', 'score': 11.57}, {'connected_gene': 'RUNX3', 'score': 11.48}, {'connected_gene': 'MIR6731', 'score': 0.34}, {'connected_gene': 'PIR31417', 'score': 0.29}]
chr1 GH01I024934 24934129 24936692 0.72 [{'connected_gene': 'LOC105376878', 'score': 0.77}, {'connected_gene': 'PIR43315', 'score': 0.77}, {'connected_gene': 'RUNX3', 'score': 0.31}, {'connected_gene': 'GC01M024930', 'score': 0.26}]
chr1 GH01I025007 25007001 25008062 0.71 [{'connected_gene': 'SRRM1', 'score': 15.91}, {'connected_gene': 'RUNX3', 'score': 12.35}, {'connected_gene': 'LOC105376878', 'score': 12.27}, {'connected_gene': 'MIR4425', 'score': 0.37}, {'connected_gene': 'GC01M024955', 'score': 0.37}]
chr1 GH01I025030 25030442 25036673 1.7 [{'connected_gene': 'SRRM1', 'score': 66.03}, {'connected_gene': 'MAN1C1', 'score': 23.27}, {'connected_gene': 'RUNX3', 'score': 17.35}, {'connected_gene': 'SYF2', 'score': 15.89}, {'connected_gene': 'LOC105376878', 'score': 12.03}, {'connected_gene': 'ENSG00000261349', 'score': 10.03}, {'connected_gene': 'STMN1', 'score': 9.94}, {'connected_gene': 'RSRP1', 'score': 5.75}, {'connected_gene': 'SDHDP6', 'score': 4.61}, {'connected_gene': 'LOC105376879', 'score': 0.44}, {'connected_gene': 'MIR4425', 'score': 0.39}]
chr1 GH01I024641 24641336 24645471 2.39 [{'connected_gene': 'SRRM1', 'score': 573.0}, {'connected_gene': 'SRSF10', 'score': 35.25}, {'connected_gene': 'ENSG00000261349', 'score': 21.38}, {'connected_gene': 'ELOA', 'score': 18.45}, {'connected_gene': 'NCMAP', 'score': 15.33}, {'connected_gene': 'SYF2', 'score': 13.48}, {'connected_gene': 'RPL11', 'score': 11.87}, {'connected_gene': 'PNRC2', 'score': 11.77}, {'connected_gene': 'FUCA1', 'score': 11.21}, {'connected_gene': 'MAN1C1', 'score': 10.09}, {'connected_gene': 'RUNX3', 'score': 1.89}, {'connected_gene': 'GC01P024703', 'score': 0.21}]
chr1 GH01I024901 24901152 24902097 0.69 [{'connected_gene': 'MIR6731', 'score': 0.37}, {'connected_gene': 'PIR31417', 'score': 0.28}, {'connected_gene': 'RUNX3', 'score': 0.21}]
chr1 GH01I025020 25020264 25025121 1.67 [{'connected_gene': 'MIR4425', 'score': 550.77}, {'connected_gene': 'RUNX3', 'score': 21.78}, {'connected_gene': 'LOC105376878', 'score': 12.59}, {'connected_gene': 'RSRP1', 'score': 6.54}, {'connected_gene': 'SYF2', 'score': 3.71}, {'connected_gene': 'SRRM1', 'score': 1.48}, {'connected_gene': 'GC01M024955', 'score': 0.29}]
chr1 GH01I024990 24990662 24993751 0.96 [{'connected_gene': 'GC01M024955', 'score': 550.77}, {'connected_gene': 'RUNX3', 'score': 4.3}, {'connected_gene': 'RCAN3', 'score': 1.32}, {'connected_gene': 'MIR4425', 'score': 0.29}]
chr1 GH01I024954 24954044 24960925 1.24 [{'connected_gene': 'ENSG00000236528', 'score': 4.59}, {'connected_gene': 'RUNX3', 'score': 0.44}, {'connected_gene': 'GC01M024954', 'score': 0.39}, {'connected_gene': 'GC01M024956', 'score': 0.39}, {'connected_gene': 'PIR43315', 'score': 0.37}, {'connected_gene': 'LOC105376878', 'score': 0.34}, {'connected_gene': 'GC01M024930', 'score': 0.34}, {'connected_gene': 'GC01M024955', 'score': 0.29}]
chr1 GH01I024902 24902245 24907817 0.63 [{'connected_gene': 'ENSG00000225643', 'score': 4.91}, {'connected_gene': 'SELENON', 'score': 4.02}, {'connected_gene': 'MIR6731', 'score': 0.39}, {'connected_gene': 'PIR31417', 'score': 0.28}, {'connected_gene': 'RUNX3', 'score': 0.21}]
chr1 GH01I024949 24949038 24949833 0.85 [{'connected_gene': 'PIR43315', 'score': 0.39}, {'connected_gene': 'LOC105376878', 'score': 0.37}, {'connected_gene': 'RUNX3', 'score': 0.37}, {'connected_gene': 'GC01M024930', 'score': 0.31}]
chr1 GH01I024936 24936830 24936979 0.2 [{'connected_gene': 'PIR43315', 'score': 550.77}, {'connected_gene': 'LOC105376878', 'score': 0.77}, {'connected_gene': 'RUNX3', 'score': 0.31}, {'connected_gene': 'GC01M024930', 'score': 0.26}]
chr1 GH01I024948 24948058 24948839 0.66 [{'connected_gene': 'PIR43315', 'score': 0.39}, {'connected_gene': 'LOC105376878', 'score': 0.37}, {'connected_gene': 'RUNX3', 'score': 0.37}, {'connected_gene': 'GC01M024930', 'score': 0.29}]
chr1 GH01I024899 24899610 24899759 0.74 [{'connected_gene': 'ENSG00000231953', 'score': 10.97}, {'connected_gene': 'MIR6731', 'score': 0.37}, {'connected_gene': 'PIR31417', 'score': 0.29}, {'connected_gene': 'RUNX3', 'score': 0.2}]

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