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
ENST00000340600 [[93963589, 93963974], [93966460, 93966812], [93968497, 93970521]] [[93966673, 93966812], [93968497, 93968955]]
ENST00000549206 [[93964174, 93964441], [93966460, 93966812], [93968497, 93969950]] [[93966673, 93966812], [93968497, 93968955]]
ENST00000536696 [[93964755, 93964992], [93966460, 93966812], [93968497, 93968973]] [[93966673, 93966812], [93968497, 93968955]]
ENST00000548091 [[93965099, 93965202], [93966460, 93966812], [93968497, 93968786]] [[93966673, 93966812], [93968497, 93968786]]
ENST00000549122 [[93965136, 93965690], [93966460, 93966812], [93968497, 93969982]] [[93966673, 93966812], [93968497, 93968955]]
ENST00000548537 [[93965479, 93965690], [93966460, 93969982]] [[93966673, 93966982]]
ENST00000549887 [[93965675, 93965962], [93966460, 93966812], [93968497, 93968842]] [[93966673, 93966812], [93968497, 93968842]]
ENST00000551556 [[93965681, 93966812], [93968497, 93969082]] [[93966673, 93966812], [93968497, 93968955]]
ENST00000547229 [[93965910, 93966151], [93966460, 93966681]] [[93966673, 93966681]]
ENST00000551883 [[93968740, 93968949], [93969285, 93969795]] [[93968740, 93968949], [93969285, 93969426]]
ENST00000549510 [[93968833, 93968949], [93976798, 93977263]] [[93968833, 93968949], [93976798, 93976822]]
NM_003877 [[93963597, 93963974], [93966460, 93966812], [93968497, 93970521]] [[93966673, 93966812], [93968497, 93968955]]
NM_001270467 [[93964174, 93964441], [93966460, 93966812], [93968497, 93970521]] [[93966673, 93966812], [93968497, 93968955]]
NM_001270468 [[93964756, 93964992], [93966460, 93966812], [93968497, 93970521]] [[93966673, 93966812], [93968497, 93968955]]
NM_001270469 [[93965456, 93965690], [93966460, 93966812], [93968497, 93970521]] [[93966673, 93966812], [93968497, 93968955]]
NM_001270470 [[93965456, 93965962], [93966460, 93966812], [93968497, 93970521]] [[93966673, 93966812], [93968497, 93968955]]
NM_001270471 [[93966301, 93966812], [93968497, 93970521]] [[93966673, 93966812], [93968497, 93968955]]
Promoter
Chrom Start End Description
chr12 93963622 93963628 CAGE_peak_16_at_SOCS2_5end
chr12 93963739 93963750 CAGE_peak_21_at_SOCS2_5end
chr12 93963755 93963796 CAGE_peak_7_at_SOCS2_5end
chr12 93963797 93963817 CAGE_peak_19_at_SOCS2_5end
chr12 93963818 93963840 CAGE_peak_18_at_SOCS2_5end
chr12 93964158 93964170 CAGE_peak_9_at_SOCS2_5end
chr12 93964746 93964767 CAGE_peak_5_at_SOCS2_5end
chr12 93964769 93964848 CAGE_peak_1_at_SOCS2_5end
chr12 93965451 93965494 CAGE_peak_4_at_SOCS2_5end
chr12 93965609 93965692 CAGE_peak_2_at_SOCS2_5end
chr12 93965704 93965728 CAGE_peak_6_at_SOCS2_5end
chr12 93966292 93966306 CAGE_peak_15_at_SOCS2_5end
chr12 93966313 93966323 CAGE_peak_30_at_SOCS2_5end
chr12 93966332 93966344 CAGE_peak_26_at_SOCS2_5end
chr12 93966441 93966473 CAGE_peak_3_at_SOCS2_5end
chr12 93966480 93966504 CAGE_peak_10_at_SOCS2_5end
chr12 93966515 93966528 CAGE_peak_20_at_SOCS2_5end
chr12 93966539 93966544 CAGE_peak_29_at_SOCS2_5end
chr12 93966545 93966557 CAGE_peak_25_at_SOCS2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I093682 93682894 93683643 0.46 [{'connected_gene': 'SOCS2', 'score': 11.14}, {'connected_gene': 'ENSG00000258365', 'score': 5.36}, {'connected_gene': 'CRADD', 'score': 0.44}, {'connected_gene': 'LOC101928731', 'score': 0.23}]
chr12 GH12I093689 93689245 93689394 0.52 [{'connected_gene': 'SOCS2', 'score': 11.14}, {'connected_gene': 'CRADD', 'score': 0.39}, {'connected_gene': 'LOC101928731', 'score': 0.25}]
chr12 GH12I093782 93782507 93788117 1.65 [{'connected_gene': 'SOCS2', 'score': 10.5}, {'connected_gene': 'CRADD', 'score': 5.4}, {'connected_gene': 'GC12P093788', 'score': 0.77}, {'connected_gene': 'GC12M093698', 'score': 0.28}]
chr12 GH12I093766 93766685 93768378 1.12 [{'connected_gene': 'SOCS2', 'score': 11.63}, {'connected_gene': 'GC12M093698', 'score': 0.34}, {'connected_gene': 'GC12P093788', 'score': 0.34}, {'connected_gene': 'CRADD', 'score': 0.16}]
chr12 GH12I093764 93764410 93764748 0.33 [{'connected_gene': 'SOCS2', 'score': 10.93}, {'connected_gene': 'GC12M093698', 'score': 0.37}, {'connected_gene': 'GC12P093788', 'score': 0.34}, {'connected_gene': 'CRADD', 'score': 0.17}]
chr12 GH12I093794 93794125 93794254 0.2 [{'connected_gene': 'SOCS2', 'score': 10.44}, {'connected_gene': 'GC12P093788', 'score': 0.44}, {'connected_gene': 'GC12P093832', 'score': 0.28}, {'connected_gene': 'CRADD', 'score': 0.13}]
chr12 GH12I093775 93775707 93781716 1.27 [{'connected_gene': 'SOCS2', 'score': 10.9}, {'connected_gene': 'GC12P093788', 'score': 0.39}, {'connected_gene': 'GC12M093698', 'score': 0.29}, {'connected_gene': 'CRADD', 'score': 0.15}]
chr12 GH12I093760 93760971 93763217 1.17 [{'connected_gene': 'SOCS2', 'score': 10.93}, {'connected_gene': 'ENSG00000271382', 'score': 10.46}, {'connected_gene': 'EEA1', 'score': 10.23}, {'connected_gene': 'GC12M093698', 'score': 0.37}, {'connected_gene': 'GC12P093788', 'score': 0.31}, {'connected_gene': 'CRADD', 'score': 0.18}]
chr12 GH12I093526 93526905 93527074 0.84 [{'connected_gene': 'SOCS2', 'score': 12.53}, {'connected_gene': 'RBMS2P1', 'score': 12.02}, {'connected_gene': 'MRPL42', 'score': 11.45}, {'connected_gene': 'ENSG00000258271', 'score': 0.77}, {'connected_gene': 'RN7SL737P', 'score': 0.37}]
chr12 GH12I093525 93524233 93525218 0.65 [{'connected_gene': 'SOCS2', 'score': 12.6}, {'connected_gene': 'MRPL42', 'score': 5.46}, {'connected_gene': 'ENSG00000258271', 'score': 0.44}, {'connected_gene': 'RN7SL737P', 'score': 0.37}]
chr12 GH12I093536 93536070 93537852 0.49 [{'connected_gene': 'SOCS2', 'score': 12.26}, {'connected_gene': 'MRPL42', 'score': 5.22}, {'connected_gene': 'ENSG00000258271', 'score': 0.44}, {'connected_gene': 'GC12P093556', 'score': 0.37}]
chr12 GH12I093740 93740134 93744400 1.7 [{'connected_gene': 'SOCS2', 'score': 17.76}, {'connected_gene': 'SOCS2-AS1', 'score': 12.88}, {'connected_gene': 'ENSG00000258172', 'score': 10.57}, {'connected_gene': 'ENSG00000258365', 'score': 5.08}, {'connected_gene': 'NUDT4', 'score': 1.56}, {'connected_gene': 'LOC101928731', 'score': 0.77}, {'connected_gene': 'GC12M093698', 'score': 0.77}, {'connected_gene': 'CRADD', 'score': 0.21}]
chr12 GH12I093503 93503165 93503314 0.62 [{'connected_gene': 'SOCS2', 'score': 12.54}, {'connected_gene': 'SOCS2-AS1', 'score': 12.34}, {'connected_gene': 'RN7SL737P', 'score': 0.44}, {'connected_gene': 'MRPL42', 'score': 0.28}]
chr12 GH12I093723 93723365 93723454 0.56 [{'connected_gene': 'SOCS2', 'score': 11.07}, {'connected_gene': 'SOCS2-AS1', 'score': 10.87}, {'connected_gene': 'LOC101928731', 'score': 0.39}, {'connected_gene': 'GC12M093698', 'score': 0.34}, {'connected_gene': 'CRADD', 'score': 0.25}]
chr12 GH12I094098 94098402 94102994 1.5 [{'connected_gene': 'SOCS2', 'score': 12.24}, {'connected_gene': 'SOCS2-AS1', 'score': 11.57}, {'connected_gene': 'PLXNC1', 'score': 10.41}, {'connected_gene': 'LOC441644', 'score': 0.28}, {'connected_gene': 'LOC105369913', 'score': 0.22}]
chr12 GH12I093514 93514885 93515054 0.46 [{'connected_gene': 'SOCS2', 'score': 11.41}, {'connected_gene': 'RN7SL737P', 'score': 0.44}, {'connected_gene': 'ENSG00000258271', 'score': 0.37}, {'connected_gene': 'MRPL42', 'score': 0.25}]
chr12 GH12I093496 93496555 93496980 0.28 [{'connected_gene': 'SOCS2', 'score': 12.13}, {'connected_gene': 'RN7SL737P', 'score': 0.39}, {'connected_gene': 'MRPL42', 'score': 0.31}]
chr12 GH12I093524 93524076 93524194 0.2 [{'connected_gene': 'SOCS2', 'score': 12.6}, {'connected_gene': 'ENSG00000258271', 'score': 0.44}, {'connected_gene': 'RN7SL737P', 'score': 0.39}]
chr12 GH12I093978 93978765 93978934 0.54 [{'connected_gene': 'SOCS2', 'score': 11.87}, {'connected_gene': 'RN7SKP263', 'score': 0.29}, {'connected_gene': 'ENSG00000271382', 'score': 0.29}, {'connected_gene': 'LOC105369912', 'score': 0.29}]
chr12 GH12I093974 93974365 93974514 0.2 [{'connected_gene': 'SOCS2', 'score': 11.73}, {'connected_gene': 'ENSG00000271382', 'score': 0.31}, {'connected_gene': 'RN7SKP263', 'score': 0.29}, {'connected_gene': 'LOC105369912', 'score': 0.28}]
chr12 GH12I093990 93990762 93992426 0.92 [{'connected_gene': 'SOCS2', 'score': 10.51}, {'connected_gene': 'RN7SKP263', 'score': 0.37}, {'connected_gene': 'LOC105369912', 'score': 0.34}, {'connected_gene': 'ENSG00000271382', 'score': 0.25}]
chr12 GH12I093982 93982459 93983875 0.77 [{'connected_gene': 'SOCS2', 'score': 10.85}, {'connected_gene': 'RN7SKP263', 'score': 0.31}, {'connected_gene': 'LOC105369912', 'score': 0.31}, {'connected_gene': 'ENSG00000271382', 'score': 0.28}]
chr12 GH12I093972 93972228 93973787 0.31 [{'connected_gene': 'SOCS2', 'score': 11.73}, {'connected_gene': 'ENSG00000271382', 'score': 0.31}, {'connected_gene': 'RN7SKP263', 'score': 0.28}, {'connected_gene': 'LOC105369912', 'score': 0.28}]
chr12 GH12I094079 94079984 94080785 0.57 [{'connected_gene': 'SOCS2', 'score': 11.15}, {'connected_gene': 'LOC105369913', 'score': 0.28}, {'connected_gene': 'LOC441644', 'score': 0.22}]
chr12 GH12I094045 94045788 94046080 0.23 [{'connected_gene': 'SOCS2', 'score': 1.28}, {'connected_gene': 'LOC105369913', 'score': 0.77}, {'connected_gene': 'LOC441644', 'score': 0.16}]
chr12 GH12I094077 94077963 94079589 0.79 [{'connected_gene': 'SOCS2', 'score': 10.74}, {'connected_gene': 'LOC105369913', 'score': 0.28}, {'connected_gene': 'LOC441644', 'score': 0.21}]
chr12 GH12I094074 94073955 94076054 0.95 [{'connected_gene': 'SOCS2', 'score': 10.74}, {'connected_gene': 'LOC105369913', 'score': 0.29}, {'connected_gene': 'LOC441644', 'score': 0.21}]
chr12 GH12I093922 93922640 93923019 0.88 [{'connected_gene': 'SOCS2', 'score': 7.16}, {'connected_gene': 'GC12M093915', 'score': 0.44}, {'connected_gene': 'LOC105369911', 'score': 0.34}]
chr12 GH12I093938 93938411 93938707 0.82 [{'connected_gene': 'SOCS2', 'score': 7.34}, {'connected_gene': 'LOC105369911', 'score': 0.44}, {'connected_gene': 'GC12M093915', 'score': 0.34}]
chr12 GH12I093727 93727102 93728418 1.01 [{'connected_gene': 'SOCS2', 'score': 11.35}, {'connected_gene': 'ENSG00000258365', 'score': 4.76}, {'connected_gene': 'LOC101928731', 'score': 0.39}, {'connected_gene': 'GC12M093698', 'score': 0.37}, {'connected_gene': 'CRADD', 'score': 0.23}]
chr12 GH12I094112 94112075 94112800 0.38 [{'connected_gene': 'SOCS2', 'score': 11.78}, {'connected_gene': 'PLXNC1', 'score': 10.92}, {'connected_gene': 'LOC441644', 'score': 0.31}, {'connected_gene': 'LOC105369913', 'score': 0.2}]
chr12 GH12I094108 94108738 94109976 0.57 [{'connected_gene': 'SOCS2', 'score': 11.78}, {'connected_gene': 'PLXNC1', 'score': 10.92}, {'connected_gene': 'LOC441644', 'score': 0.29}, {'connected_gene': 'LOC105369913', 'score': 0.2}]
chr12 GH12I093428 93428001 93428201 0.57 [{'connected_gene': 'EEA1', 'score': 10.15}, {'connected_gene': 'SOCS2', 'score': 6.24}, {'connected_gene': 'GC12M093281', 'score': 0.37}, {'connected_gene': 'UBE2N', 'score': 0.37}, {'connected_gene': 'GC12P093160', 'score': 0.06}]
chr12 GH12I093616 93616312 93617487 0.54 [{'connected_gene': 'LOC642969', 'score': 0.34}, {'connected_gene': 'SOCS2-AS1', 'score': 0.25}, {'connected_gene': 'SOCS2', 'score': 0.25}]
chr12 GH12I093624 93622580 93623160 0.2 [{'connected_gene': 'LOC642969', 'score': 0.37}, {'connected_gene': 'SOCS2-AS1', 'score': 0.23}, {'connected_gene': 'SOCS2', 'score': 0.23}]
chr12 GH12I093622 93622045 93622254 0.31 [{'connected_gene': 'LOC642969', 'score': 0.37}, {'connected_gene': 'SOCS2-AS1', 'score': 0.23}, {'connected_gene': 'SOCS2', 'score': 0.23}]
chr12 GH12I093623 93623805 93626838 1.12 [{'connected_gene': 'LOC642969', 'score': 0.37}, {'connected_gene': 'SOCS2-AS1', 'score': 0.23}, {'connected_gene': 'SOCS2', 'score': 0.22}]
chr12 GH12I093425 93425249 93427911 0.6 [{'connected_gene': 'MRPL42', 'score': 14.51}, {'connected_gene': 'EEA1', 'score': 10.15}, {'connected_gene': 'SOCS2', 'score': 6.24}, {'connected_gene': 'ENSG00000257252', 'score': 5.92}, {'connected_gene': 'GC12M093281', 'score': 0.39}, {'connected_gene': 'UBE2N', 'score': 0.37}, {'connected_gene': 'GC12P093160', 'score': 0.06}]
chr12 GH12I093569 93569173 93574282 2.31 [{'connected_gene': 'SOCS2-AS1', 'score': 550.77}, {'connected_gene': 'SOCS2', 'score': 550.77}, {'connected_gene': 'ENSG00000271382', 'score': 10.42}, {'connected_gene': 'EEA1', 'score': 10.24}]
chr12 GH12I093577 93577455 93577979 0.63 [{'connected_gene': 'SOCS2-AS1', 'score': 0.44}, {'connected_gene': 'SOCS2', 'score': 0.44}, {'connected_gene': 'LOC642969', 'score': 0.21}]
chr12 GH12I093579 93579320 93580390 0.2 [{'connected_gene': 'SOCS2-AS1', 'score': 0.44}, {'connected_gene': 'SOCS2', 'score': 0.39}, {'connected_gene': 'LOC642969', 'score': 0.21}]
chr12 GH12I093583 93583982 93584608 0.31 [{'connected_gene': 'SOCS2-AS1', 'score': 0.39}, {'connected_gene': 'SOCS2', 'score': 0.39}, {'connected_gene': 'LOC642969', 'score': 0.22}]
chr12 GH12I093788 93788505 93791521 1.07 [{'connected_gene': 'GC12P093788', 'score': 550.77}, {'connected_gene': 'SOCS2', 'score': 10.5}, {'connected_gene': 'GC12P093832', 'score': 0.26}, {'connected_gene': 'CRADD', 'score': 0.14}]
chr12 GH12I093530 93530197 93531217 0.49 [{'connected_gene': 'ENSG00000258271', 'score': 550.77}, {'connected_gene': 'SOCS2', 'score': 12.55}, {'connected_gene': 'MRPL42', 'score': 6.07}, {'connected_gene': 'UBE2N', 'score': 4.37}, {'connected_gene': 'GC12P093556', 'score': 0.31}]
chr12 GH12I093917 93917105 93919032 1.06 [{'connected_gene': 'GC12M093915', 'score': 550.77}, {'connected_gene': 'EEA1', 'score': 13.2}, {'connected_gene': 'RBMS2P1', 'score': 10.57}, {'connected_gene': 'SOCS2', 'score': 3.51}, {'connected_gene': 'LOC105369911', 'score': 0.31}]
chr12 GH12I093590 93590350 93595770 1.61 [{'connected_gene': 'ENSG00000258365', 'score': 13.65}, {'connected_gene': 'SOCS2-AS1', 'score': 12.61}, {'connected_gene': 'SOCS2', 'score': 12.61}, {'connected_gene': 'LOC642969', 'score': 0.25}]
chr12 GH12I093563 93563461 93565279 1.17 [{'connected_gene': 'GC12P093556', 'score': 0.44}, {'connected_gene': 'SOCS2-AS1', 'score': 0.44}, {'connected_gene': 'SOCS2', 'score': 0.44}]

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