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
ENST00000244766 [[5998231, 5999437], [6002585, 6002730], [6006927, 6007200]] [[5999208, 5999437], [6002585, 6002730], [6006927, 6006982]]
ENST00000495850 [[5998947, 5999437], [6002585, 6002730], [6003058, 6003196]] None
NM_001278711 [[5998231, 5999437], [6002585, 6002730], [6003401, 6003506], [6003935, 6004277]] [[5999208, 5999437], [6002585, 6002730], [6003401, 6003506], [6003935, 6003963]]
NM_016588 [[5998231, 5999437], [6002585, 6002730], [6006927, 6007633]] [[5999208, 5999437], [6002585, 6002730], [6006927, 6006982]]
NM_001278710 [[5998231, 5999437], [6002585, 6002730], [6006927, 6007016], [6007719, 6007838]] [[5999208, 5999437], [6002585, 6002730], [6006927, 6006982]]
Promoter
Chrom Start End Description
chr6 6003157 6003191 CAGE_peak_9_at_NRN1_5end
chr6 6004249 6004271 CAGE_peak_3_at_NRN1_5end
chr6 6004273 6004340 CAGE_peak_2_at_NRN1_5end
chr6 6006989 6007000 CAGE_peak_8_at_NRN1_5end
chr6 6007064 6007075 CAGE_peak_5_at_NRN1_5end
chr6 6007096 6007107 CAGE_peak_4_at_NRN1_5end
chr6 6007111 6007181 CAGE_peak_1_at_NRN1_5end
chr6 6007215 6007226 CAGE_peak_6_at_NRN1_5end
chr6 6007745 6007795 CAGE_peak_7_at_NRN1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I005995 5995673 6000203 1.38 [{'connected_gene': 'NRN1', 'score': 11.66}, {'connected_gene': 'ENSG00000216360', 'score': 11.16}, {'connected_gene': 'LYRM4', 'score': 9.94}, {'connected_gene': 'LOC105374898', 'score': 0.77}, {'connected_gene': 'GC06P005986', 'score': 0.39}, {'connected_gene': 'GC06M005970', 'score': 0.39}]
chr6 GH06I005969 5969000 5969201 0.31 [{'connected_gene': 'NRN1', 'score': 11.39}, {'connected_gene': 'PKMP5', 'score': 0.77}, {'connected_gene': 'GC06P005953', 'score': 0.37}]
chr6 GH06I006005 6005481 6009461 2.28 [{'connected_gene': 'NRN1', 'score': 558.9}, {'connected_gene': 'LOC442155', 'score': 9.95}, {'connected_gene': 'PPP1R3G', 'score': 4.86}, {'connected_gene': 'GC06M005970', 'score': 0.77}, {'connected_gene': 'LOC105374898', 'score': 0.39}, {'connected_gene': 'GC06P005986', 'score': 0.34}]
chr6 GH06I006545 6545700 6547889 1.06 [{'connected_gene': 'NRN1', 'score': 11.32}, {'connected_gene': 'F13A1', 'score': 10.32}, {'connected_gene': 'LY86', 'score': 5.47}, {'connected_gene': 'GC06P006543', 'score': 0.77}, {'connected_gene': 'GC06M006539', 'score': 0.77}, {'connected_gene': 'LY86-AS1', 'score': 0.18}]
chr6 GH06I005506 5506079 5508066 0.92 [{'connected_gene': 'NRN1', 'score': 10.13}, {'connected_gene': 'GC06P005502', 'score': 0.77}, {'connected_gene': 'GC06M005498', 'score': 0.44}, {'connected_gene': 'FARS2', 'score': 0.07}]
chr6 GH06I006000 6000361 6000753 0.33 [{'connected_gene': 'NRN1', 'score': 8.59}, {'connected_gene': 'LOC105374898', 'score': 0.44}, {'connected_gene': 'GC06M005970', 'score': 0.44}, {'connected_gene': 'GC06P005986', 'score': 0.39}]
chr6 GH06I005988 5988860 5990062 0.2 [{'connected_gene': 'NRN1', 'score': 16.63}, {'connected_gene': 'LOC105374898', 'score': 0.77}, {'connected_gene': 'GC06P005986', 'score': 0.77}, {'connected_gene': 'GC06M005970', 'score': 0.34}]
chr6 GH06I006001 6001747 6002101 0.39 [{'connected_gene': 'NRN1', 'score': 8.18}, {'connected_gene': 'LOC105374898', 'score': 0.44}, {'connected_gene': 'GC06M005970', 'score': 0.44}, {'connected_gene': 'GC06P005986', 'score': 0.37}]
chr6 GH06I006003 6003103 6005075 1.56 [{'connected_gene': 'NRN1', 'score': 560.01}, {'connected_gene': 'GC06M005970', 'score': 0.44}, {'connected_gene': 'LOC105374898', 'score': 0.39}, {'connected_gene': 'GC06P005986', 'score': 0.37}]
chr6 GH06I005470 5470965 5471400 0.87 [{'connected_gene': 'NRN1', 'score': 10.93}, {'connected_gene': 'LOC101927972', 'score': 0.39}, {'connected_gene': 'GC06P005502', 'score': 0.29}, {'connected_gene': 'FARS2', 'score': 0.08}]
chr6 GH06I005471 5471660 5472548 0.54 [{'connected_gene': 'NRN1', 'score': 10.93}, {'connected_gene': 'LOC101927972', 'score': 7.97}, {'connected_gene': 'GC06P005502', 'score': 0.29}, {'connected_gene': 'FARS2', 'score': 0.08}]
chr6 GH06I005665 5665093 5666177 0.2 [{'connected_gene': 'NRN1', 'score': 9.82}, {'connected_gene': 'GC06P005668', 'score': 0.77}, {'connected_gene': 'GC06P005659', 'score': 0.44}, {'connected_gene': 'GC06M005657', 'score': 0.34}, {'connected_gene': 'LOC101927950', 'score': 0.31}, {'connected_gene': 'FARS2', 'score': 0.05}]
chr6 GH06I005979 5979498 5980600 0.73 [{'connected_gene': 'NRN1', 'score': 20.67}, {'connected_gene': 'GC06P005976', 'score': 0.77}, {'connected_gene': 'GC06P005986', 'score': 0.44}, {'connected_gene': 'GC06M005970', 'score': 0.29}]
chr6 GH06I005991 5991355 5991441 0.23 [{'connected_gene': 'LOC105374898', 'score': 550.77}, {'connected_gene': 'NRN1', 'score': 14.79}, {'connected_gene': 'GC06P005986', 'score': 0.44}, {'connected_gene': 'GC06M005970', 'score': 0.37}]
chr6 GH06I005992 5991516 5991836 0.4 [{'connected_gene': 'LOC105374898', 'score': 550.77}, {'connected_gene': 'NRN1', 'score': 2.77}, {'connected_gene': 'GC06P005986', 'score': 0.44}, {'connected_gene': 'GC06M005970', 'score': 0.37}]
chr6 GH06I005994 5994145 5994411 0.34 [{'connected_gene': 'LOC105374898', 'score': 550.77}, {'connected_gene': 'NRN1', 'score': 8.63}, {'connected_gene': 'GC06P005986', 'score': 0.44}, {'connected_gene': 'GC06M005970', 'score': 0.37}]
chr6 GH06I006542 6542825 6544214 0.64 [{'connected_gene': 'GC06P006543', 'score': 550.77}, {'connected_gene': 'GC06M006539', 'score': 550.77}, {'connected_gene': 'NRN1', 'score': 11.32}, {'connected_gene': 'F13A1', 'score': 10.32}, {'connected_gene': 'LY86', 'score': 5.22}, {'connected_gene': 'LY86-AS1', 'score': 0.18}]
chr6 GH06I005513 5513523 5513789 0.66 [{'connected_gene': 'GC06M005498', 'score': 550.77}, {'connected_gene': 'NRN1', 'score': 9.61}, {'connected_gene': 'GC06P005502', 'score': 0.39}, {'connected_gene': 'FARS2', 'score': 0.07}]
chr6 GH06I005831 5831064 5833199 0.51 [{'connected_gene': 'GC06P005834', 'score': 550.77}, {'connected_gene': 'NRN1', 'score': 9.73}, {'connected_gene': 'ENSG00000216360', 'score': 0.39}]
chr6 GH06I006467 6467428 6467621 0.79 [{'connected_gene': 'GC06M006465', 'score': 550.77}, {'connected_gene': 'F13A1', 'score': 10.63}, {'connected_gene': 'NRN1', 'score': 7.65}, {'connected_gene': 'GC06P006509', 'score': 0.26}, {'connected_gene': 'LY86-AS1', 'score': 0.1}]
chr6 GH06I006515 6515708 6516473 0.75 [{'connected_gene': 'GC06P006517', 'score': 550.77}, {'connected_gene': 'F13A1', 'score': 10.44}, {'connected_gene': 'NRN1', 'score': 10.37}, {'connected_gene': 'ENSG00000261211', 'score': 5.41}, {'connected_gene': 'GC06P006509', 'score': 0.44}, {'connected_gene': 'LY86-AS1', 'score': 0.14}]