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
ENST00000509971 [[76749703, 76749753], [76754886, 76754949], [76758919, 76759051], [76760585, 76760634], [76785281, 76785397], [76916303, 76916436]] [[76749703, 76749753], [76754886, 76754949], [76758919, 76759051], [76760585, 76760634], [76785281, 76785397], [76916303, 76916345]]
ENST00000509858 [[76758917, 76759051], [76760585, 76760634], [76785281, 76785382], [76836282, 76836361], [76916303, 76916401]] None
ENST00000514878 [[76721794, 76722016], [76722768, 76722859], [76728717, 76728780]] None
ENST00000512033 [[76722476, 76722859], [76728717, 76729112], [76732085, 76732104]] None
ENST00000508154 [[76722478, 76722859], [76728909, 76728984]] None
ENST00000296679 [[76726757, 76729112], [76732085, 76732219], [76733160, 76733249], [76734064, 76734186], [76736637, 76736822], [76745584, 76745695], [76747115, 76747178], [76749641, 76749753], [76754886, 76754949], [76758919, 76759051], [76760585, 76760634], [76785281, 76785397], [76787994, 76788421]] [[76728959, 76729112], [76732085, 76732219], [76733160, 76733249], [76734064, 76734186], [76736637, 76736822], [76745584, 76745695], [76747115, 76747178], [76749641, 76749753], [76754886, 76754949], [76758919, 76759051], [76760585, 76760634], [76785281, 76785397], [76787994, 76788045]]
ENST00000502528 [[76728068, 76729112], [76732085, 76732219], [76733160, 76733249], [76734064, 76734186], [76736637, 76736822], [76745584, 76745695], [76747115, 76748698]] None
ENST00000515253 [[76728637, 76729112], [76732085, 76732219], [76733160, 76733249], [76734064, 76734186], [76736637, 76736822], [76749641, 76749753], [76754886, 76754949], [76758919, 76759051], [76760585, 76760634], [76785281, 76785397], [76787994, 76788024]] [[76728959, 76729112], [76732085, 76732219], [76733160, 76733249], [76734064, 76734186], [76736637, 76736822], [76749641, 76749753], [76754886, 76754949], [76758919, 76759051], [76760585, 76760634], [76785281, 76785397], [76787994, 76788024]]
ENST00000414719 [[76728637, 76729112], [76732085, 76732219], [76733160, 76733249], [76734064, 76734186], [76736637, 76736822], [76749641, 76749753], [76754886, 76754949], [76758919, 76759051], [76760585, 76760634], [76785281, 76785397], [76787994, 76788024]] [[76728959, 76729112], [76732085, 76732219], [76733160, 76733249], [76734064, 76734186], [76736637, 76736757]]
ENST00000507029 [[76728717, 76729112], [76732085, 76732219], [76733160, 76733249], [76734064, 76734186], [76736637, 76736822], [76745584, 76745695], [76747115, 76747178], [76749641, 76749753], [76754886, 76754949], [76758919, 76759051], [76787994, 76788141]] [[76728959, 76729112], [76732085, 76732219], [76733160, 76733249], [76734064, 76734186], [76736637, 76736822], [76745584, 76745695], [76747115, 76747178], [76749641, 76749753], [76754886, 76754949], [76758919, 76759051], [76787994, 76788045]]
ENST00000511630 [[76732184, 76732219], [76734064, 76734186], [76736637, 76736822], [76745584, 76745695], [76747115, 76747178]] [[76732209, 76732219], [76734064, 76734186], [76736637, 76736822], [76745584, 76745695], [76747115, 76747178]]
ENST00000507654 [[76732203, 76732219], [76733160, 76733249], [76734064, 76734186], [76736637, 76736822], [76785281, 76785397], [76787994, 76788028]] [[76732203, 76732219], [76733160, 76733249], [76734064, 76734186], [76736637, 76736822], [76785281, 76785291]]
ENST00000509701 [[76733231, 76733249], [76734064, 76734186], [76736637, 76736822], [76745584, 76745685], [76749641, 76749753], [76754886, 76754949], [76758919, 76759051], [76760585, 76760634], [76785281, 76785397], [76787994, 76788045]] [[76745677, 76745685], [76749641, 76749753], [76754886, 76754949], [76758919, 76759051], [76760585, 76760634], [76785281, 76785397], [76787994, 76788045]]
ENST00000511791 [[76734082, 76734186], [76736637, 76736822], [76785375, 76785397], [76787994, 76788112]] [[76734082, 76734186], [76736637, 76736822], [76785375, 76785397], [76787994, 76788045]]
ENST00000505129 [[76736641, 76736822], [76745584, 76745695], [76747115, 76747178], [76754886, 76754949], [76758919, 76759051], [76760585, 76760634], [76785281, 76785397], [76787994, 76788321]] [[76747115, 76747178], [76754886, 76754949], [76758919, 76759051], [76760585, 76760634], [76785281, 76785397], [76787994, 76788045]]
ENST00000506307 [[76736755, 76736822], [76745584, 76745685], [76754886, 76754949], [76758919, 76759051], [76760585, 76760634], [76785281, 76785397], [76787994, 76788048]] [[76745640, 76745685], [76754886, 76754949], [76758919, 76759051], [76760585, 76760634], [76785281, 76785397], [76787994, 76788045]]
ENST00000507452 [[76745589, 76745695], [76747115, 76747171], [76749641, 76749753], [76754886, 76754949], [76758919, 76759051], [76760585, 76760634], [76785281, 76785397], [76787994, 76788040]] None
ENST00000509892 [[76745628, 76745695], [76747115, 76747178], [76749641, 76749753], [76754874, 76754949], [76758919, 76759051], [76785281, 76785397], [76787994, 76788040]] [[76759032, 76759051], [76785281, 76785397], [76787994, 76788040]]
ENST00000515321 [[76745639, 76745685], [76749626, 76749753], [76754886, 76754949], [76758919, 76759051], [76760585, 76760634], [76785281, 76785397], [76787994, 76788046]] None
ENST00000513417 [[76745655, 76745695], [76747115, 76747178], [76749641, 76749753], [76754886, 76754949], [76758919, 76759051], [76785281, 76785397], [76787994, 76788045]] [[76759032, 76759051], [76785281, 76785397], [76787994, 76788045]]
ENST00000514559 [[76747115, 76747178], [76749641, 76749735], [76754886, 76754949], [76758919, 76759051], [76760585, 76760634], [76785281, 76785397], [76787994, 76788047]] [[76747115, 76747178], [76749641, 76749735], [76754886, 76754949], [76758919, 76759051], [76760585, 76760634], [76785281, 76785397], [76787994, 76788045]]
ENST00000503035 [[76747115, 76747178], [76749641, 76749753], [76754886, 76754949], [76758919, 76759051], [76760585, 76760634], [76785281, 76785397], [76787983, 76788302]] [[76785375, 76785397], [76787983, 76788045]]
ENST00000511036 [[76747148, 76747178], [76749641, 76749753], [76754886, 76754949], [76758919, 76759051], [76760585, 76760634], [76785281, 76785382], [76787994, 76788312]] [[76747148, 76747178], [76749641, 76749753], [76754886, 76754949], [76758919, 76759051], [76760585, 76760634], [76785281, 76785382], [76787994, 76788045]]
ENST00000504895 [[76749690, 76749753], [76754886, 76754949], [76758919, 76759051], [76760585, 76760634], [76785281, 76785397], [76787017, 76787110]] [[76749690, 76749753], [76754886, 76754949], [76758919, 76759051], [76760585, 76760634], [76785281, 76785397], [76787017, 76787044]]
ENST00000506474 [[76749713, 76749753], [76754886, 76754949], [76758919, 76759051], [76760585, 76760634], [76775905, 76776014], [76785281, 76785397], [76787994, 76788045]] [[76775980, 76776014], [76785281, 76785397], [76787994, 76788045]]
ENST00000507239 [[76754683, 76754949], [76758919, 76759051], [76760585, 76760634], [76785281, 76785397], [76787994, 76788047]] None
ENST00000514451 [[76758930, 76759051], [76760585, 76760634], [76785281, 76785382], [76787636, 76787828]] None
ENST00000513917 [[76758930, 76759051], [76760585, 76760634], [76785281, 76785397], [76795151, 76795461]] None
ENST00000512168 [[76758948, 76759051], [76760585, 76760634], [76785281, 76785397], [76787994, 76788020], [76788077, 76788332]] None
NM_018268 [[76726757, 76729112], [76732085, 76732219], [76733160, 76733249], [76734064, 76734186], [76736637, 76736822], [76745584, 76745695], [76747115, 76747178], [76749641, 76749753], [76754886, 76754949], [76758919, 76759051], [76760585, 76760634], [76785281, 76785397], [76787994, 76788365]] [[76728959, 76729112], [76732085, 76732219], [76733160, 76733249], [76734064, 76734186], [76736637, 76736822], [76745584, 76745695], [76747115, 76747178], [76749641, 76749753], [76754886, 76754949], [76758919, 76759051], [76760585, 76760634], [76785281, 76785397], [76787994, 76788045]]
Promoter
Chrom Start End Description
chr5 76788037 76788098 CAGE_peak_1_at_WDR41_5end
chr5 76788134 76788148 CAGE_peak_3_at_WDR41_5end
chr5 76788269 76788293 CAGE_peak_5_at_WDR41_5end
chr5 76788298 76788316 CAGE_peak_4_at_WDR41_5end
chr5 76788317 76788339 CAGE_peak_2_at_WDR41_5end
chr5 76916396 76916408 CAGE_peak_9_at_WDR41_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I077486 77486284 77486961 0.43 [{'connected_gene': 'PDE8B', 'score': 19.43}, {'connected_gene': 'GC05M077504', 'score': 0.34}, {'connected_gene': 'GC05M077427', 'score': 0.22}, {'connected_gene': 'WDR41', 'score': 0.12}]
chr5 GH05I077629 77629319 77631543 1.41 [{'connected_gene': 'SCAMP1-AS1', 'score': 10.39}, {'connected_gene': 'RPL7P23', 'score': 9.9}, {'connected_gene': 'GC05M077626', 'score': 0.77}, {'connected_gene': 'WDR41', 'score': 0.44}, {'connected_gene': 'OTP', 'score': 0.44}]
chr5 GH05I077645 77645011 77645571 1.56 [{'connected_gene': 'RPL7P23', 'score': 27.18}, {'connected_gene': 'SCAMP1', 'score': 16.95}, {'connected_gene': 'WDR41', 'score': 11.88}, {'connected_gene': 'AP3B1', 'score': 11.69}, {'connected_gene': 'AGGF1', 'score': 10.02}, {'connected_gene': 'OTP', 'score': 0.44}, {'connected_gene': 'GC05M077675', 'score': 0.29}]
chr5 GH05I077574 77574570 77574785 0.4 [{'connected_gene': 'RPL7P23', 'score': 0.44}, {'connected_gene': 'GC05M077554', 'score': 0.37}, {'connected_gene': 'WDR41', 'score': 0.25}]
chr5 GH05I077490 77490298 77493065 2.04 [{'connected_gene': 'WDR41', 'score': 568.24}, {'connected_gene': 'PDE8B', 'score': 34.85}, {'connected_gene': 'GC05M077504', 'score': 0.37}, {'connected_gene': 'GC05M077427', 'score': 0.21}]
chr5 GH05I077426 77426116 77426265 0.6 [{'connected_gene': 'WDR41', 'score': 16.01}, {'connected_gene': 'GC05M077427', 'score': 0.77}, {'connected_gene': 'GC05M077395', 'score': 0.31}, {'connected_gene': 'PDE8B', 'score': 0.07}]
chr5 GH05I077301 77301596 77301745 0.6 [{'connected_gene': 'WDR41', 'score': 4.18}, {'connected_gene': 'ALDH7A1P1', 'score': 0.39}, {'connected_gene': 'GC05P077342', 'score': 0.26}, {'connected_gene': 'PDE8B', 'score': 0.13}]
chr5 GH05I077620 77620536 77620685 0.63 [{'connected_gene': 'WDR41', 'score': 550.77}, {'connected_gene': 'GC05M077626', 'score': 0.39}]
chr5 GH05I077560 77560332 77560558 0.51 [{'connected_gene': 'GC05M077554', 'score': 0.77}, {'connected_gene': 'RPL7P23', 'score': 0.34}, {'connected_gene': 'WDR41', 'score': 0.21}]
chr5 GH05I077570 77570944 77571192 0.4 [{'connected_gene': 'GC05M077554', 'score': 0.39}, {'connected_gene': 'RPL7P23', 'score': 0.39}, {'connected_gene': 'WDR41', 'score': 0.25}]
chr5 GH05I077562 77562051 77562266 0.51 [{'connected_gene': 'GC05M077554', 'score': 0.44}, {'connected_gene': 'RPL7P23', 'score': 0.34}, {'connected_gene': 'WDR41', 'score': 0.22}]
chr5 GH05I077595 77595373 77595597 0.4 [{'connected_gene': 'GC05P077595', 'score': 550.77}, {'connected_gene': 'OTP', 'score': 11.58}, {'connected_gene': 'WDR41', 'score': 0.31}]