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
ENST00000410087 [[182401402, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182412453], [182412548, 182412574], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182423292, 182423435], [182430784, 182430848], [182438479, 182438611], [182468563, 182468806], [182521495, 182521834]] [[182402910, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182412453], [182412548, 182412574], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182423292, 182423435], [182430784, 182430848], [182438479, 182438611], [182468563, 182468806], [182521495, 182521733]]
ENST00000409440 [[182402131, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182412453], [182412548, 182412574], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182423292, 182423435], [182430159, 182430237], [182430784, 182430848], [182468563, 182468806], [182521495, 182521834]] [[182402910, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182412453], [182412548, 182412574], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182423292, 182423435], [182430159, 182430237], [182430784, 182430848], [182468563, 182468806], [182521495, 182521733]]
ENST00000374969 [[182402840, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182412453], [182412548, 182412574], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182468563, 182468806], [182521495, 182521733]] [[182402910, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182412453], [182412548, 182412574], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182468563, 182468806], [182521495, 182521733]]
ENST00000339098 [[182402910, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182412453], [182412548, 182412574], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182423292, 182423435], [182430159, 182430237], [182430784, 182430848], [182438479, 182438611], [182468563, 182468806], [182521495, 182521733]] [[182402910, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182412453], [182412548, 182412574], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182423292, 182423435], [182430159, 182430237], [182430784, 182430848], [182438479, 182438611], [182468563, 182468806], [182521495, 182521733]]
ENST00000494398 [[182402910, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182413331], [182413406, 182413584], [182414360, 182414435], [182423292, 182423435], [182430784, 182430848], [182438479, 182438611], [182468563, 182468806], [182521495, 182521733]] None
ENST00000452174 [[182402910, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182412453], [182412548, 182412574], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182423292, 182423435], [182468563, 182468806], [182521495, 182521733]] [[182423394, 182423435], [182468563, 182468806], [182521495, 182521733]]
ENST00000374970 [[182402910, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182412453], [182412548, 182412574], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182438479, 182438611], [182468563, 182468806], [182521495, 182521733]] [[182402910, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182412453], [182412548, 182412574], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182438479, 182438611], [182468563, 182468806], [182521495, 182521733]]
ENST00000374967 [[182402910, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182412453], [182412548, 182412574], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182423292, 182423435], [182438479, 182438611], [182468563, 182468806], [182521495, 182521733]] [[182423394, 182423435], [182438479, 182438611], [182468563, 182468806], [182521495, 182521733]]
ENST00000421817 [[182402910, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182412453], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182423292, 182423435], [182468563, 182468806], [182521495, 182521751]] [[182423394, 182423435], [182468563, 182468806], [182521495, 182521733]]
ENST00000479558 [[182409454, 182409523], [182412344, 182412453], [182412548, 182412574], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182423292, 182423435], [182430784, 182430848], [182438479, 182438611], [182468563, 182468806], [182545156, 182545392]] None
ENST00000466715 [[182423378, 182423435], [182438479, 182438611], [182468563, 182468806], [182514686, 182514804]] None
ENST00000460319 [[182430784, 182430848], [182438479, 182438611], [182468563, 182468806], [182514306, 182514463]] None
ENST00000476070 [[182430788, 182430848], [182438479, 182438611], [182468563, 182468806], [182521706, 182521843]] None
ENST00000497337 [[182468589, 182468806], [182481981, 182482148], [182545156, 182545368]] None
NM_001030311 [[182401398, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182412453], [182412548, 182412574], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182423292, 182423435], [182430159, 182430237], [182430784, 182430848], [182438479, 182438611], [182468563, 182468806], [182521495, 182521834]] [[182402910, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182412453], [182412548, 182412574], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182423292, 182423435], [182430159, 182430237], [182430784, 182430848], [182438479, 182438611], [182468563, 182468806], [182521495, 182521733]]
NM_201548 [[182401398, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182412453], [182412548, 182412574], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182423292, 182423435], [182430784, 182430848], [182438479, 182438611], [182468563, 182468806], [182521495, 182521834]] [[182402910, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182412453], [182412548, 182412574], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182423292, 182423435], [182430784, 182430848], [182438479, 182438611], [182468563, 182468806], [182521495, 182521733]]
NR_027690 [[182401398, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182412453], [182412548, 182412574], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182423292, 182423435], [182438479, 182438611], [182468563, 182468806], [182521495, 182521834]] None
NM_001030313 [[182401398, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182412453], [182412548, 182412574], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182438479, 182438611], [182468563, 182468806], [182521495, 182521834]] [[182402910, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182412453], [182412548, 182412574], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182438479, 182438611], [182468563, 182468806], [182521495, 182521733]]
NM_001160277 [[182401398, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182412453], [182412548, 182412574], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182423292, 182423435], [182430159, 182430237], [182430784, 182430848], [182468563, 182468806], [182521495, 182521834]] [[182402910, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182412453], [182412548, 182412574], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182423292, 182423435], [182430159, 182430237], [182430784, 182430848], [182468563, 182468806], [182521495, 182521733]]
NR_027689 [[182401398, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182412453], [182412548, 182412574], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182423292, 182423435], [182468563, 182468806], [182521495, 182521834]] None
NM_001030312 [[182401398, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182412453], [182412548, 182412574], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182468563, 182468806], [182521495, 182521834]] [[182402910, 182402971], [182403818, 182403991], [182409426, 182409523], [182412344, 182412453], [182412548, 182412574], [182413271, 182413331], [182413406, 182413584], [182414360, 182414435], [182468563, 182468806], [182521495, 182521733]]
Promoter
Chrom Start End Description
chr2 182514792 182514810 CAGE_peak_11_at_CERKL_5end
chr2 182521699 182521708 CAGE_peak_5_at_CERKL_5end
chr2 182521823 182521853 CAGE_peak_1_at_CERKL_5end
chr2 182521855 182521867 CAGE_peak_4_at_CERKL_5end
chr2 182545330 182545341 CAGE_peak_2_at_CERKL_5end
chr2 182545363 182545372 CAGE_peak_3_at_CERKL_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I182132 182132674 182133046 0.44 [{'connected_gene': 'PDE1A', 'score': 5.52}, {'connected_gene': 'CERKL', 'score': 1.3}, {'connected_gene': 'GC02M182141', 'score': 0.44}, {'connected_gene': 'GC02P182126', 'score': 0.44}]
chr2 GH02I181629 181629630 181629974 0.43 [{'connected_gene': 'NEUROD1', 'score': 13.26}, {'connected_gene': 'CERKL', 'score': 11.39}, {'connected_gene': 'ENSG00000234595', 'score': 11.39}, {'connected_gene': 'GC02M181678', 'score': 0.25}, {'connected_gene': 'GC02P181566', 'score': 0.21}]
chr2 GH02I181619 181619295 181620804 0.4 [{'connected_gene': 'CERKL', 'score': 9.99}, {'connected_gene': 'NEUROD1', 'score': 9.99}, {'connected_gene': 'ENSG00000234595', 'score': 9.99}, {'connected_gene': 'ITGA4', 'score': 6.7}, {'connected_gene': 'GC02P181566', 'score': 0.23}, {'connected_gene': 'GC02M181678', 'score': 0.22}]
chr2 GH02I181554 181554162 181554554 0.42 [{'connected_gene': 'CERKL', 'score': 5.26}, {'connected_gene': 'NEUROD1', 'score': 4.86}, {'connected_gene': 'GC02P181566', 'score': 0.39}, {'connected_gene': 'ITGA4', 'score': 0.15}]
chr2 GH02I181615 181615268 181615508 0.54 [{'connected_gene': 'CERKL', 'score': 10.81}, {'connected_gene': 'NEUROD1', 'score': 10.81}, {'connected_gene': 'ENSG00000234595', 'score': 10.81}, {'connected_gene': 'PPP1R1C', 'score': 1.61}, {'connected_gene': 'GC02P181566', 'score': 0.25}, {'connected_gene': 'GC02M181678', 'score': 0.21}]
chr2 GH02I181715 181715154 181715323 0.6 [{'connected_gene': 'CERKL', 'score': 12.5}, {'connected_gene': 'NEUROD1', 'score': 12.5}, {'connected_gene': 'ENSG00000234595', 'score': 12.5}, {'connected_gene': 'RNU6ATAC19P', 'score': 11.58}, {'connected_gene': 'SAP18P2', 'score': 0.34}, {'connected_gene': 'GC02P181739', 'score': 0.34}]
chr2 GH02I181655 181655555 181657417 2.07 [{'connected_gene': 'CERKL', 'score': 562.44}, {'connected_gene': 'NEUROD1', 'score': 12.44}, {'connected_gene': 'ENSG00000234595', 'score': 12.42}, {'connected_gene': 'GC02M181678', 'score': 0.34}, {'connected_gene': 'GC02P181566', 'score': 0.17}]
chr2 GH02I181586 181586714 181586863 0.89 [{'connected_gene': 'CERKL', 'score': 10.9}, {'connected_gene': 'NEUROD1', 'score': 10.9}, {'connected_gene': 'ENSG00000234595', 'score': 10.89}, {'connected_gene': 'GC02P181566', 'score': 0.37}, {'connected_gene': 'GC02M181678', 'score': 0.16}]
chr2 GH02I181572 181572784 181572798 0.22 [{'connected_gene': 'CERKL', 'score': 11.9}, {'connected_gene': 'NEUROD1', 'score': 11.9}, {'connected_gene': 'ENSG00000234595', 'score': 11.89}, {'connected_gene': 'GC02P181566', 'score': 0.44}, {'connected_gene': 'GC02M181678', 'score': 0.14}]
chr2 GH02I181680 181680507 181680566 1.13 [{'connected_gene': 'CERKL', 'score': 550.77}, {'connected_gene': 'GC02M181678', 'score': 550.77}, {'connected_gene': 'NEUROD1', 'score': 550.77}]
chr2 GH02I181470 181470344 181472007 0.93 [{'connected_gene': 'CERKL', 'score': 4.19}, {'connected_gene': 'ITGA4', 'score': 3.58}, {'connected_gene': 'GC02P181566', 'score': 0.15}]
chr2 GH02I181475 181475138 181476155 0.2 [{'connected_gene': 'CERKL', 'score': 4.92}, {'connected_gene': 'ITGA4', 'score': 0.37}, {'connected_gene': 'GC02P181566', 'score': 0.16}]
chr2 GH02I181552 181552426 181553451 0.31 [{'connected_gene': 'CERKL', 'score': 6.52}, {'connected_gene': 'ITGA4', 'score': 5.04}, {'connected_gene': 'GC02P181566', 'score': 0.39}]
chr2 GH02I181437 181437170 181446456 0.46 [{'connected_gene': 'CERKL', 'score': 17.44}, {'connected_gene': 'ITGA4', 'score': 8.44}, {'connected_gene': 'ENSG00000226681', 'score': 0.37}]
chr2 GH02I181575 181575239 181576912 0.51 [{'connected_gene': 'CERKL', 'score': 6.24}, {'connected_gene': 'GC02P181566', 'score': 0.44}, {'connected_gene': 'GC02M181678', 'score': 0.15}]
chr2 GH02I181374 181374878 181375702 0.97 [{'connected_gene': 'ITGA4', 'score': 11.06}, {'connected_gene': 'CERKL', 'score': 8.02}, {'connected_gene': 'UBE2E3', 'score': 5.38}, {'connected_gene': 'GC02P181326', 'score': 0.25}, {'connected_gene': 'ENSG00000226681', 'score': 0.23}, {'connected_gene': 'LINC01934', 'score': 0.06}]
chr2 GH02I181396 181396254 181397514 0.8 [{'connected_gene': 'ITGA4', 'score': 17.06}, {'connected_gene': 'CERKL', 'score': 4.82}, {'connected_gene': 'ENSG00000226681', 'score': 0.31}, {'connected_gene': 'GC02P181326', 'score': 0.19}, {'connected_gene': 'LINC01934', 'score': 0.06}]
chr2 GH02I181392 181392967 181396000 1.27 [{'connected_gene': 'ITGA4', 'score': 19.76}, {'connected_gene': 'CERKL', 'score': 4.74}, {'connected_gene': 'ENSG00000226681', 'score': 0.29}, {'connected_gene': 'GC02P181326', 'score': 0.2}, {'connected_gene': 'LINC01934', 'score': 0.06}]
chr2 GH02I181397 181397736 181398592 0.69 [{'connected_gene': 'ITGA4', 'score': 11.06}, {'connected_gene': 'CERKL', 'score': 4.86}, {'connected_gene': 'ENSG00000226681', 'score': 0.31}, {'connected_gene': 'GC02P181326', 'score': 0.19}, {'connected_gene': 'LINC01934', 'score': 0.06}]
chr2 GH02I181454 181454898 181468555 2.62 [{'connected_gene': 'ITGA4', 'score': 561.4}, {'connected_gene': 'CERKL', 'score': 18.87}, {'connected_gene': 'GC02P181566', 'score': 0.14}]
chr2 GH02I181129 181129235 181133207 0.31 [{'connected_gene': 'ITGA4', 'score': 10.35}, {'connected_gene': 'UBE2E3', 'score': 6.42}, {'connected_gene': 'CERKL', 'score': 5.84}, {'connected_gene': 'LINC01934', 'score': 0.31}, {'connected_gene': 'ENSG00000238171', 'score': 0.31}, {'connected_gene': 'MIR4437', 'score': 0.09}]
chr2 GH02I181916 181916102 181917999 0.4 [{'connected_gene': 'ENSG00000234595', 'score': 10.13}, {'connected_gene': 'CERKL', 'score': 10.13}, {'connected_gene': 'NEUROD1', 'score': 10.13}, {'connected_gene': 'SSFA2', 'score': 0.31}, {'connected_gene': 'PPP1R1C', 'score': 0.28}]
chr2 GH02I181104 181104634 181105001 0.85 [{'connected_gene': 'ENSG00000238171', 'score': 550.77}, {'connected_gene': 'ITGA4', 'score': 12.35}, {'connected_gene': 'CERKL', 'score': 10.06}, {'connected_gene': 'NEUROD1', 'score': 10.06}, {'connected_gene': 'ENSG00000234595', 'score': 10.06}, {'connected_gene': 'UBE2E3', 'score': 8.61}, {'connected_gene': 'LINC01934', 'score': 0.77}]

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