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
ENST00000590474 [[67410838, 67411141], [67501920, 67501987], [67512995, 67513044], [67513640, 67513754], [67515453, 67515573], [67516410, 67516527], [67517189, 67517241], [67519654, 67519782], [67521041, 67521119], [67522710, 67522850], [67532255, 67532301], [67537816, 67539472]] [[67411125, 67411141], [67501920, 67501987], [67512995, 67513044], [67513640, 67513754], [67515453, 67515573], [67516410, 67516527], [67517189, 67517241], [67519654, 67519782], [67521041, 67521119], [67522710, 67522850], [67532255, 67532301], [67537816, 67537894]]
ENST00000586641 [[67410851, 67411141], [67501920, 67501987], [67512995, 67513044], [67513640, 67513754], [67515453, 67515573], [67516410, 67516527], [67517189, 67517974]] None
ENST00000359094 [[67410974, 67411141], [67501920, 67501987], [67512995, 67513044], [67513640, 67513692], [67515453, 67515573], [67516410, 67516527], [67517189, 67517241], [67519654, 67519782], [67521041, 67521119], [67522710, 67522850], [67532255, 67532301], [67537816, 67538651]] [[67411125, 67411141], [67501920, 67501987], [67512995, 67513044], [67513640, 67513692], [67515453, 67515476]]
ENST00000589295 [[67498294, 67498558], [67501920, 67501987], [67512995, 67513044], [67513640, 67513754], [67515453, 67515573], [67516410, 67516465]] [[67513676, 67513754], [67515453, 67515573], [67516410, 67516465]]
ENST00000588110 [[67498406, 67498558], [67500599, 67500720], [67501920, 67501987], [67512995, 67513044], [67513640, 67513754], [67515453, 67515573], [67516410, 67516419]] [[67500695, 67500720], [67501920, 67501987], [67512995, 67513044], [67513640, 67513754], [67515453, 67515573], [67516410, 67516419]]
ENST00000589647 [[67498569, 67498826], [67501920, 67501987], [67512995, 67513044], [67513640, 67513754], [67515453, 67515573], [67516410, 67516527], [67517189, 67517241], [67519654, 67519782], [67521041, 67521119], [67522710, 67522850], [67532255, 67532301], [67537816, 67538160]] [[67513676, 67513754], [67515453, 67515573], [67516410, 67516527], [67517189, 67517241], [67519654, 67519782], [67521041, 67521119], [67522710, 67522850], [67532255, 67532301], [67537816, 67537894]]
ENST00000591445 [[67501588, 67501987], [67512995, 67513044], [67513640, 67513754], [67515453, 67517967]] None
ENST00000592348 [[67532206, 67532301], [67537816, 67538152]] None
NM_002758 [[67410837, 67411141], [67501920, 67501987], [67512995, 67513044], [67513640, 67513754], [67515453, 67515573], [67516410, 67516527], [67517189, 67517241], [67519654, 67519782], [67521041, 67521119], [67522710, 67522850], [67532255, 67532301], [67537816, 67538470]] [[67411125, 67411141], [67501920, 67501987], [67512995, 67513044], [67513640, 67513754], [67515453, 67515573], [67516410, 67516527], [67517189, 67517241], [67519654, 67519782], [67521041, 67521119], [67522710, 67522850], [67532255, 67532301], [67537816, 67537894]]
NM_001330450 [[67498362, 67498826], [67501920, 67501987], [67512995, 67513044], [67513640, 67513754], [67515453, 67515573], [67516410, 67516527], [67517189, 67517241], [67519654, 67519782], [67521041, 67521119], [67522710, 67522850], [67532255, 67532301], [67537816, 67550002]] [[67513676, 67513754], [67515453, 67515573], [67516410, 67516527], [67517189, 67517241], [67519654, 67519782], [67521041, 67521119], [67522710, 67522850], [67532255, 67532301], [67537816, 67537894]]
Promoter
Chrom Start End Description
chr17 67410832 67410871 CAGE_peak_1_at_MAP2K6_5end
chr17 67410874 67410889 CAGE_peak_4_at_MAP2K6_5end
chr17 67498312 67498333 CAGE_peak_5_at_MAP2K6_5end
chr17 67498396 67498409 CAGE_peak_3_at_MAP2K6_5end
chr17 67498411 67498447 CAGE_peak_2_at_MAP2K6_5end
chr17 67498499 67498513 CAGE_peak_7_at_MAP2K6_5end
chr17 67498538 67498552 CAGE_peak_8_at_MAP2K6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I069424 69424254 69424779 0.31 [{'connected_gene': 'MAP2K6', 'score': 0.44}, {'connected_gene': 'ENSG00000278972', 'score': 0.44}]
chr17 GH17I069414 69414100 69418773 2.32 [{'connected_gene': 'MAP2K6', 'score': 550.77}, {'connected_gene': 'ENSG00000278972', 'score': 0.37}]
chr17 GH17I069429 69429708 69431191 0.92 [{'connected_gene': 'ABCA5', 'score': 14.55}, {'connected_gene': 'ENSG00000278972', 'score': 0.77}, {'connected_gene': 'MAP2K6', 'score': 0.37}]
chr17 GH17I069427 69427601 69427800 0.2 [{'connected_gene': 'ABCA5', 'score': 10.18}, {'connected_gene': 'ENSG00000278972', 'score': 0.44}, {'connected_gene': 'MAP2K6', 'score': 0.39}]
chr17 GH17I069450 69450205 69452052 0.58 [{'connected_gene': 'ABCA5', 'score': 6.27}, {'connected_gene': 'GC17M069459', 'score': 0.39}, {'connected_gene': 'ENSG00000278972', 'score': 0.37}, {'connected_gene': 'MAP2K6', 'score': 0.28}]
chr17 GH17I069447 69447557 69449497 0.89 [{'connected_gene': 'ABCA5', 'score': 5.7}, {'connected_gene': 'GC17M069459', 'score': 0.39}, {'connected_gene': 'ENSG00000278972', 'score': 0.37}, {'connected_gene': 'MAP2K6', 'score': 0.29}]
chr17 GH17I069428 69428001 69429400 0.58 [{'connected_gene': 'ABCA5', 'score': 10.18}, {'connected_gene': 'ENSG00000278972', 'score': 0.77}, {'connected_gene': 'MAP2K6', 'score': 0.39}]
chr17 GH17I069489 69489733 69490605 0.31 [{'connected_gene': 'LOC105371880', 'score': 0.39}, {'connected_gene': 'GC17M069471', 'score': 0.37}, {'connected_gene': 'MAP2K6', 'score': 0.18}]
chr17 GH17I069497 69497828 69498906 0.2 [{'connected_gene': 'LOC105371880', 'score': 0.77}, {'connected_gene': 'GC17M069471', 'score': 0.34}, {'connected_gene': 'MAP2K6', 'score': 0.18}]
chr17 GH17I069505 69505108 69506769 0.69 [{'connected_gene': 'LOC105371880', 'score': 0.77}, {'connected_gene': 'GC17M069521', 'score': 0.37}, {'connected_gene': 'MAP2K6', 'score': 0.16}]
chr17 GH17I069492 69492353 69493209 1 [{'connected_gene': 'LOC105371880', 'score': 0.44}, {'connected_gene': 'GC17M069471', 'score': 0.37}, {'connected_gene': 'MAP2K6', 'score': 0.18}]
chr17 GH17I069479 69479561 69481033 0.2 [{'connected_gene': 'LOC105371880', 'score': 5.96}, {'connected_gene': 'MAP2K6', 'score': 4.73}, {'connected_gene': 'GC17M069471', 'score': 0.44}]
chr17 GH17I069500 69500644 69503098 1.5 [{'connected_gene': 'LOC105371880', 'score': 550.77}, {'connected_gene': 'MAP2K6', 'score': 11.65}, {'connected_gene': 'GC17M069521', 'score': 0.34}]
chr17 GH17I069504 69504481 69504980 0.2 [{'connected_gene': 'LOC105371880', 'score': 0.77}, {'connected_gene': 'GC17M069521', 'score': 0.37}, {'connected_gene': 'MAP2K6', 'score': 0.16}]
chr17 GH17I069503 69503820 69503969 0.91 [{'connected_gene': 'LOC105371880', 'score': 0.77}, {'connected_gene': 'GC17M069521', 'score': 0.37}, {'connected_gene': 'MAP2K6', 'score': 0.17}]
chr17 GH17I069534 69534779 69535569 0.2 [{'connected_gene': 'SNRPGP4', 'score': 4.87}, {'connected_gene': 'GC17M069521', 'score': 0.39}, {'connected_gene': 'ENSG00000267194', 'score': 0.37}, {'connected_gene': 'MAP2K6', 'score': 0.13}]
chr17 GH17I069453 69453723 69454505 0.43 [{'connected_gene': 'GC17M069459', 'score': 0.44}, {'connected_gene': 'ENSG00000278972', 'score': 0.34}, {'connected_gene': 'MAP2K6', 'score': 0.28}]
chr17 GH17I069438 69438490 69439050 0.31 [{'connected_gene': 'ENSG00000278972', 'score': 0.44}, {'connected_gene': 'MAP2K6', 'score': 0.34}, {'connected_gene': 'GC17M069459', 'score': 0.34}]
chr17 GH17I069460 69460305 69462189 0.63 [{'connected_gene': 'GC17M069459', 'score': 550.77}, {'connected_gene': 'ENSG00000278972', 'score': 0.31}, {'connected_gene': 'MAP2K6', 'score': 0.25}]
chr17 GH17I069470 69470370 69471469 0.31 [{'connected_gene': 'GC17M069471', 'score': 0.77}, {'connected_gene': 'GC17M069459', 'score': 0.44}, {'connected_gene': 'MAP2K6', 'score': 0.22}]
chr17 GH17I069434 69434198 69434624 1.02 [{'connected_gene': 'ENSG00000278972', 'score': 550.77}, {'connected_gene': 'MAP2K6', 'score': 0.37}, {'connected_gene': 'GC17M069459', 'score': 0.31}]
chr17 GH17I069465 69465927 69468688 0.87 [{'connected_gene': 'GC17M069471', 'score': 0.44}, {'connected_gene': 'GC17M069459', 'score': 0.44}, {'connected_gene': 'MAP2K6', 'score': 0.23}]
chr17 GH17I069473 69473622 69475346 0.89 [{'connected_gene': 'GC17M069471', 'score': 550.77}, {'connected_gene': 'ENSG00000267194', 'score': 5.65}, {'connected_gene': 'GC17M069459', 'score': 0.39}, {'connected_gene': 'MAP2K6', 'score': 0.22}]
chr17 GH17I069533 69533469 69534151 0.43 [{'connected_gene': 'GC17M069521', 'score': 0.39}, {'connected_gene': 'ENSG00000267194', 'score': 0.37}, {'connected_gene': 'MAP2K6', 'score': 0.13}]
chr17 GH17I069425 69425798 69426241 0.2 [{'connected_gene': 'ENSG00000278972', 'score': 0.44}, {'connected_gene': 'MAP2K6', 'score': 0.39}]
chr17 GH17I069401 69401680 69402240 0.49 [{'connected_gene': 'GC17M069385', 'score': 0.44}, {'connected_gene': 'MAP2K6', 'score': 0.39}]
chr17 GH17I069538 69538945 69541006 0.82 [{'connected_gene': 'ENSG00000267194', 'score': 0.39}, {'connected_gene': 'GC17M069521', 'score': 0.37}, {'connected_gene': 'MAP2K6', 'score': 0.13}]
chr17 GH17I069526 69526100 69526249 0.6 [{'connected_gene': 'GC17M069521', 'score': 0.77}, {'connected_gene': 'ENSG00000267194', 'score': 0.31}, {'connected_gene': 'MAP2K6', 'score': 0.14}]
chr17 GH17I069452 69452846 69453692 0.31 [{'connected_gene': 'GC17M069459', 'score': 0.44}, {'connected_gene': 'ENSG00000278972', 'score': 0.34}, {'connected_gene': 'MAP2K6', 'score': 0.28}]
chr17 GH17I069522 69522880 69523621 0.66 [{'connected_gene': 'GC17M069521', 'score': 550.77}, {'connected_gene': 'ENSG00000267194', 'score': 0.31}, {'connected_gene': 'MAP2K6', 'score': 0.14}]
chr17 GH17I069481 69481074 69481795 0.2 [{'connected_gene': 'GC17M069471', 'score': 0.44}, {'connected_gene': 'LOC105371880', 'score': 0.34}, {'connected_gene': 'MAP2K6', 'score': 0.2}]
chr17 GH17I069485 69485255 69485846 0.58 [{'connected_gene': 'GC17M069471', 'score': 0.39}, {'connected_gene': 'LOC105371880', 'score': 0.37}, {'connected_gene': 'MAP2K6', 'score': 0.19}]
chr17 GH17I069477 69477061 69479071 0.89 [{'connected_gene': 'GC17M069471', 'score': 0.77}, {'connected_gene': 'LOC105371880', 'score': 0.34}, {'connected_gene': 'MAP2K6', 'score': 0.21}]