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
ENST00000421515 [[23933554, 23934828], [23942298, 23942540], [23952301, 23952412], [23952819, 23952941], [23987813, 23988082]] [[23934585, 23934828], [23942298, 23942540], [23952301, 23952395]]
ENST00000388759 [[23933150, 23934828], [23942298, 23942540], [23952301, 23952412], [23952819, 23952937], [23958274, 23958460]] [[23934585, 23934828], [23942298, 23942540], [23952301, 23952395]]
ENST00000443659 [[23933551, 23934828], [23942298, 23942540], [23952301, 23952412], [23957445, 23958206]] [[23934585, 23934828], [23942298, 23942540], [23952301, 23952395]]
ENST00000425478 [[23933571, 23934828], [23942298, 23942540], [23952301, 23952412], [23952819, 23952941], [23958274, 23958556]] [[23934585, 23934828], [23942298, 23942540], [23952301, 23952395]]
ENST00000437230 [[23933587, 23934824], [23942294, 23942540], [23952301, 23952412], [23952819, 23952937], [23958274, 23958460]] [[23934585, 23934824], [23942294, 23942540], [23952301, 23952395]]
ENST00000412028 [[23933797, 23934824], [23942294, 23942540], [23952301, 23952412], [23952819, 23952937], [23958351, 23958454]] [[23934585, 23934824], [23942294, 23942540], [23952301, 23952395]]
ENST00000415901 [[23933800, 23934824], [23942294, 23942540], [23952301, 23952412], [23952819, 23952941], [23958274, 23958415]] [[23934585, 23934824], [23942294, 23942540], [23952301, 23952395]]
ENST00000416026 [[23934555, 23934828], [23942298, 23942540], [23952301, 23952412], [23958274, 23958443]] [[23934585, 23934828], [23942298, 23942540], [23952301, 23952395]]
NM_020345 [[23933571, 23934828], [23942298, 23942540], [23952301, 23952412], [23952819, 23952941], [23958274, 23958537]] [[23934585, 23934828], [23942298, 23942540], [23952301, 23952395]]
Promoter
Chrom Start End Description
chr3 23958374 23958395 CAGE_peak_3_at_NKIRAS1_5end
chr3 23958402 23958488 CAGE_peak_1_at_NKIRAS1_5end
chr3 23958506 23958550 CAGE_peak_2_at_NKIRAS1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I023968 23968550 23968659 0.6 [{'connected_gene': 'NR1D2', 'score': 12.18}, {'connected_gene': 'NKIRAS1', 'score': 12.18}, {'connected_gene': 'RPL15', 'score': 11.46}, {'connected_gene': 'NPM1P23', 'score': 0.13}]
chr3 GH03I023999 23999200 23999401 0.78 [{'connected_gene': 'NR1D2', 'score': 11.23}, {'connected_gene': 'NKIRAS1', 'score': 11.23}, {'connected_gene': 'RPL15', 'score': 10.49}, {'connected_gene': 'NPM1P23', 'score': 0.15}]
chr3 GH03I023945 23944118 23944119 0.54 [{'connected_gene': 'NR1D2', 'score': 550.77}, {'connected_gene': 'NKIRAS1', 'score': 0.77}, {'connected_gene': 'RPL15', 'score': 0.31}]
chr3 GH03I023944 23944359 23948967 2.11 [{'connected_gene': 'NR1D2', 'score': 561.37}, {'connected_gene': 'NKIRAS1', 'score': 550.77}, {'connected_gene': 'NPM1P23', 'score': 0.1}]
chr3 GH03I023963 23963004 23964448 0.7 [{'connected_gene': 'RPL15', 'score': 11.47}, {'connected_gene': 'NR1D2', 'score': 0.37}, {'connected_gene': 'NKIRAS1', 'score': 0.37}, {'connected_gene': 'NPM1P23', 'score': 0.12}]
chr3 GH03I023952 23952750 23952899 0.65 [{'connected_gene': 'RPL15', 'score': 11.71}, {'connected_gene': 'NR1D2', 'score': 0.44}, {'connected_gene': 'NKIRAS1', 'score': 0.44}, {'connected_gene': 'NPM1P23', 'score': 0.11}]
chr3 GH03I023949 23949414 23950898 0.82 [{'connected_gene': 'RPL15', 'score': 11.73}, {'connected_gene': 'NR1D2', 'score': 0.77}, {'connected_gene': 'NKIRAS1', 'score': 0.77}, {'connected_gene': 'NPM1P23', 'score': 0.11}]
chr3 GH03I023958 23958027 23960257 1 [{'connected_gene': 'RPL15', 'score': 11.51}, {'connected_gene': 'NR1D2', 'score': 0.39}, {'connected_gene': 'NKIRAS1', 'score': 0.39}, {'connected_gene': 'NPM1P23', 'score': 0.12}]
chr3 GH03I023923 23923950 23924139 0.78 [{'connected_gene': 'RPL15', 'score': 0.44}, {'connected_gene': 'NR1D2', 'score': 0.34}, {'connected_gene': 'NKIRAS1', 'score': 0.34}]
chr3 GH03I023888 23888730 23888859 0.6 [{'connected_gene': 'RPL15', 'score': 13.4}, {'connected_gene': 'NKIRAS1', 'score': 13.31}, {'connected_gene': 'NR1D2', 'score': 11.03}, {'connected_gene': 'UBE2E1-AS1', 'score': 10.39}, {'connected_gene': 'UBE2E1', 'score': 10.39}, {'connected_gene': 'PIR33503', 'score': 0.77}, {'connected_gene': 'ARL4AP4', 'score': 0.44}]
chr3 GH03I023826 23826201 23826600 0.63 [{'connected_gene': 'RPL15', 'score': 11.02}, {'connected_gene': 'NKIRAS1', 'score': 10.99}, {'connected_gene': 'NR1D2', 'score': 10.55}, {'connected_gene': 'GC03P023841', 'score': 0.37}, {'connected_gene': 'UBE2E1-AS1', 'score': 0.37}, {'connected_gene': 'UBE2E1', 'score': 0.34}]
chr3 GH03I023825 23825201 23825600 0.43 [{'connected_gene': 'RPL15', 'score': 11.02}, {'connected_gene': 'NKIRAS1', 'score': 10.99}, {'connected_gene': 'NR1D2', 'score': 10.55}, {'connected_gene': 'GC03P023841', 'score': 0.37}, {'connected_gene': 'UBE2E1-AS1', 'score': 0.37}, {'connected_gene': 'UBE2E1', 'score': 0.37}]
chr3 GH03I023873 23873970 23875091 0.69 [{'connected_gene': 'RPL15', 'score': 11.54}, {'connected_gene': 'NKIRAS1', 'score': 11.47}, {'connected_gene': 'NR1D2', 'score': 11.17}, {'connected_gene': 'ARL4AP4', 'score': 0.77}, {'connected_gene': 'GC03M023860', 'score': 0.39}, {'connected_gene': 'UBE2E1', 'score': 0.2}]
chr3 GH03I023864 23864754 23866819 0.91 [{'connected_gene': 'RPL15', 'score': 11.8}, {'connected_gene': 'NKIRAS1', 'score': 11.74}, {'connected_gene': 'UBE2E1-AS1', 'score': 11.12}, {'connected_gene': 'UBE2E1', 'score': 11.12}, {'connected_gene': 'NR1D2', 'score': 11.06}, {'connected_gene': 'GC03M023860', 'score': 0.77}, {'connected_gene': 'ARL4AP4', 'score': 0.39}]
chr3 GH03I023858 23858816 23860473 0.43 [{'connected_gene': 'RPL15', 'score': 11.79}, {'connected_gene': 'NKIRAS1', 'score': 11.74}, {'connected_gene': 'UBE2E1-AS1', 'score': 11.24}, {'connected_gene': 'UBE2E1', 'score': 11.24}, {'connected_gene': 'NR1D2', 'score': 11.04}, {'connected_gene': 'GC03M023860', 'score': 0.77}, {'connected_gene': 'GC03P023854', 'score': 0.44}]
chr3 GH03I023914 23914801 23915000 0.38 [{'connected_gene': 'RPL15', 'score': 550.77}, {'connected_gene': 'PIR33503', 'score': 0.34}, {'connected_gene': 'NKIRAS1', 'score': 0.29}]
chr3 GH03I024160 24160559 24163340 0.56 [{'connected_gene': 'NKIRAS1', 'score': 9.61}, {'connected_gene': 'NR1D2', 'score': 9.51}, {'connected_gene': 'LOC101927854', 'score': 0.39}, {'connected_gene': 'GC03M024338', 'score': 0.1}, {'connected_gene': 'THRB', 'score': 0.06}]
chr3 GH03I023915 23915171 23919257 2.14 [{'connected_gene': 'NKIRAS1', 'score': 563.1}, {'connected_gene': 'RPL15', 'score': 550.77}, {'connected_gene': 'NR1D2', 'score': 13.1}]
chr3 GH03I023991 23991141 23992979 1.02 [{'connected_gene': 'NKIRAS1', 'score': 11.24}, {'connected_gene': 'RPL15', 'score': 11.17}, {'connected_gene': 'NPM1P23', 'score': 0.14}]
chr3 GH03I024233 24233653 24234163 0.38 [{'connected_gene': 'NKIRAS1', 'score': 10.85}, {'connected_gene': 'LOC101927854', 'score': 0.18}, {'connected_gene': 'GC03M024338', 'score': 0.14}, {'connected_gene': 'THRB', 'score': 0.07}]
chr3 GH03I024210 24210225 24211021 0.2 [{'connected_gene': 'NKIRAS1', 'score': 4.98}, {'connected_gene': 'LOC101927854', 'score': 0.22}, {'connected_gene': 'GC03M024338', 'score': 0.12}, {'connected_gene': 'THRB', 'score': 0.06}]
chr3 GH03I024018 24018801 24019000 0.2 [{'connected_gene': 'NKIRAS1', 'score': 0.19}, {'connected_gene': 'NPM1P23', 'score': 0.18}]
chr3 GH03I024011 24011077 24012064 0.59 [{'connected_gene': 'NKIRAS1', 'score': 0.21}, {'connected_gene': 'NPM1P23', 'score': 0.17}]
chr3 GH03I023829 23829298 23830399 0.96 [{'connected_gene': 'UBE2E1-AS1', 'score': 12.33}, {'connected_gene': 'UBE2E1', 'score': 12.33}, {'connected_gene': 'NR1D2', 'score': 11.42}, {'connected_gene': 'NKIRAS1', 'score': 11.42}, {'connected_gene': 'RPL15', 'score': 11.16}, {'connected_gene': 'GC03P023841', 'score': 0.39}]
chr3 GH03I023856 23856286 23858273 0.96 [{'connected_gene': 'UBE2E1-AS1', 'score': 11.24}, {'connected_gene': 'UBE2E1', 'score': 11.24}, {'connected_gene': 'RPL15', 'score': 11.17}, {'connected_gene': 'NKIRAS1', 'score': 11.12}, {'connected_gene': 'NR1D2', 'score': 10.85}, {'connected_gene': 'GC03P023854', 'score': 0.77}, {'connected_gene': 'GC03M023860', 'score': 0.77}]
chr3 GH03I023805 23805357 23812256 2.05 [{'connected_gene': 'UBE2E1-AS1', 'score': 550.77}, {'connected_gene': 'UBE2E1', 'score': 550.77}, {'connected_gene': 'RPL15', 'score': 23.15}, {'connected_gene': 'NKIRAS1', 'score': 10.52}, {'connected_gene': 'NR1D2', 'score': 10.12}, {'connected_gene': 'GC03P023841', 'score': 0.29}]
chr3 GH03I024047 24047092 24049204 0.9 [{'connected_gene': 'NPM1P23', 'score': 0.25}, {'connected_gene': 'NKIRAS1', 'score': 0.15}]
chr3 GH03I024087 24087130 24087332 0.31 [{'connected_gene': 'NPM1P23', 'score': 0.39}, {'connected_gene': 'NKIRAS1', 'score': 0.11}]
chr3 GH03I024042 24042146 24043623 0.31 [{'connected_gene': 'NPM1P23', 'score': 0.23}, {'connected_gene': 'NKIRAS1', 'score': 0.15}]
chr3 GH03I024060 24060150 24060319 0.38 [{'connected_gene': 'NPM1P23', 'score': 0.28}, {'connected_gene': 'NKIRAS1', 'score': 0.14}]
chr3 GH03I023880 23880823 23881220 0.31 [{'connected_gene': 'ARL4AP4', 'score': 550.77}, {'connected_gene': 'RPL15', 'score': 11.76}, {'connected_gene': 'NKIRAS1', 'score': 11.69}, {'connected_gene': 'NR1D2', 'score': 11.19}, {'connected_gene': 'PIR33503', 'score': 0.39}, {'connected_gene': 'UBE2E1', 'score': 0.18}]
chr3 GH03I023876 23876732 23878291 0.84 [{'connected_gene': 'ARL4AP4', 'score': 550.77}, {'connected_gene': 'UBE2E1-AS1', 'score': 12.43}, {'connected_gene': 'UBE2E1', 'score': 12.43}, {'connected_gene': 'RPL15', 'score': 11.76}, {'connected_gene': 'NKIRAS1', 'score': 11.69}, {'connected_gene': 'NR1D2', 'score': 11.18}, {'connected_gene': 'GC03M023860', 'score': 0.37}]
chr3 GH03I023904 23904996 23905324 0.22 [{'connected_gene': 'PIR33503', 'score': 0.39}, {'connected_gene': 'RPL15', 'score': 0.39}, {'connected_gene': 'NKIRAS1', 'score': 0.26}]
chr3 GH03I023894 23894103 23894454 0.47 [{'connected_gene': 'PIR33503', 'score': 550.77}, {'connected_gene': 'RPL15', 'score': 0.34}, {'connected_gene': 'NKIRAS1', 'score': 0.23}]