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
ENST00000534859 [[210111537, 210111622], [210126053, 210126101], [210186977, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273806], [210329065, 210329255], [210332744, 210332822], [210334073, 210337631]] [[210111609, 210111622], [210126053, 210126101], [210186977, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273806], [210329065, 210329255], [210332744, 210332822], [210334073, 210334387]]
ENST00000399639 [[210111537, 210111622], [210126053, 210126101], [210186977, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273806], [210329065, 210329255], [210330223, 210330225], [210332765, 210332822], [210334073, 210337631]] [[210111609, 210111622], [210126053, 210126101], [210186977, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273806], [210329065, 210329255], [210330223, 210330225], [210332765, 210332786]]
ENST00000422431 [[210111537, 210111622], [210126053, 210126101], [210139237, 210139358], [210186977, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273806], [210329065, 210329255], [210332765, 210332822], [210334073, 210337631]] [[210111595, 210111622], [210126053, 210126101], [210139237, 210139358], [210186977, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273806], [210329065, 210329255], [210332765, 210332822], [210334073, 210334387]]
ENST00000537238 [[210111537, 210111622], [210126053, 210126101], [210126399, 210126604], [210186977, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273806], [210329065, 210329255], [210334073, 210337631]] [[210187030, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273806], [210329065, 210329255], [210334073, 210334387]]
ENST00000367019 [[210111575, 210111622], [210126053, 210126101], [210186977, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273806], [210329065, 210329255], [210332765, 210332822], [210334073, 210335568]] [[210111609, 210111622], [210126053, 210126101], [210186977, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273806], [210329065, 210329255], [210332765, 210332822], [210334073, 210334387]]
ENST00000472886 [[210111595, 210111622], [210126053, 210126101], [210186977, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273806], [210329065, 210329255], [210334073, 210335671]] [[210111609, 210111622], [210126053, 210126101], [210186977, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273806], [210329065, 210329255], [210334073, 210334387]]
ENST00000271745 [[210126053, 210126101], [210126399, 210126604], [210186977, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273535], [210329065, 210329255], [210334073, 210337636]] None
ENST00000367015 [[210126053, 210126101], [210126399, 210126604], [210186977, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273806], [210329065, 210329255], [210334073, 210337636]] [[210187030, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273806], [210329065, 210329255], [210334073, 210334387]]
ENST00000469604 [[210194390, 210194599], [210267666, 210267938], [210273356, 210273806], [210329065, 210329255], [210332744, 210332822], [210334073, 210336312]] None
NM_153262 [[210111518, 210111622], [210126053, 210126101], [210186977, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273806], [210329065, 210329255], [210334073, 210337636]] [[210111609, 210111622], [210126053, 210126101], [210186977, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273806], [210329065, 210329255], [210334073, 210334387]]
NM_001146262 [[210111518, 210111622], [210126053, 210126101], [210186977, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273806], [210329065, 210329255], [210332765, 210332822], [210334073, 210337636]] [[210111609, 210111622], [210126053, 210126101], [210186977, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273806], [210329065, 210329255], [210332765, 210332822], [210334073, 210334387]]
NM_001146264 [[210111518, 210111622], [210126053, 210126101], [210139237, 210139358], [210186977, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273806], [210329065, 210329255], [210334073, 210337636]] [[210111595, 210111622], [210126053, 210126101], [210139237, 210139358], [210186977, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273806], [210329065, 210329255], [210334073, 210334387]]
NM_001146261 [[210111518, 210111622], [210126053, 210126101], [210139237, 210139358], [210186977, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273806], [210329065, 210329255], [210332765, 210332822], [210334073, 210337636]] [[210111595, 210111622], [210126053, 210126101], [210139237, 210139358], [210186977, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273806], [210329065, 210329255], [210332765, 210332822], [210334073, 210334387]]
NR_027459 [[210111518, 210111622], [210126053, 210126101], [210126399, 210126604], [210186977, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273535], [210329065, 210329255], [210334073, 210337636]] None
NM_001256006 [[210111518, 210111622], [210126053, 210126101], [210126399, 210126604], [210186977, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273806], [210329065, 210329255], [210334073, 210337636]] [[210187030, 210187142], [210194383, 210194599], [210267666, 210267938], [210273356, 210273806], [210329065, 210329255], [210334073, 210334387]]
Promoter
Chrom Start End Description
chr1 210111376 210111390 CAGE_peak_5_at_SYT14_5end
chr1 210111408 210111424 CAGE_peak_4_at_SYT14_5end
chr1 210111534 210111541 CAGE_peak_6_at_SYT14_5end
chr1 210111553 210111569 CAGE_peak_2_at_SYT14_5end
chr1 210111570 210111603 CAGE_peak_1_at_SYT14_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I209774 209774105 209776233 0.56 [{'connected_gene': 'TRAF3IP3', 'score': 10.27}, {'connected_gene': 'HSD11B1', 'score': 9.74}, {'connected_gene': 'SYT14', 'score': 7.08}, {'connected_gene': 'C1orf74', 'score': 0.44}, {'connected_gene': 'LOC101930114', 'score': 0.37}]
chr1 GH01I210213 210213192 210213475 0.44 [{'connected_gene': 'SERTAD4-AS1', 'score': 11.51}, {'connected_gene': 'TRAF3IP3', 'score': 5.61}, {'connected_gene': 'SERTAD4', 'score': 0.37}, {'connected_gene': 'SYT14', 'score': 0.06}]
chr1 GH01I210392 210392938 210395470 1.28 [{'connected_gene': 'SERTAD4-AS1', 'score': 5.3}, {'connected_gene': 'SERTAD4', 'score': 4.8}, {'connected_gene': 'HHAT', 'score': 4.66}, {'connected_gene': 'SYT14', 'score': 1.76}, {'connected_gene': 'RNU5A-8P', 'score': 0.37}, {'connected_gene': 'GC01M210375', 'score': 0.37}, {'connected_gene': 'LOC100421537', 'score': 0.2}]
chr1 GH01I210222 210222396 210223663 0.66 [{'connected_gene': 'SERTAD4-AS1', 'score': 9.05}, {'connected_gene': 'SERTAD4', 'score': 0.44}, {'connected_gene': 'SYT14', 'score': 0.06}]
chr1 GH01I209800 209800845 209810995 2.63 [{'connected_gene': 'IRF6', 'score': 578.59}, {'connected_gene': 'TRAF3IP3', 'score': 14.53}, {'connected_gene': 'DIEXF', 'score': 10.67}, {'connected_gene': 'SYT14', 'score': 7.44}, {'connected_gene': 'LAMB3', 'score': 1.81}, {'connected_gene': 'C1orf74', 'score': 0.34}]
chr1 GH01I209789 209789432 209793310 0.79 [{'connected_gene': 'IRF6', 'score': 24.32}, {'connected_gene': 'TRAF3IP3', 'score': 13.42}, {'connected_gene': 'DIEXF', 'score': 9.99}, {'connected_gene': 'SYT14', 'score': 6.04}, {'connected_gene': 'C1orf74', 'score': 0.44}]
chr1 GH01I209795 209795340 209798626 0.82 [{'connected_gene': 'IRF6', 'score': 25.19}, {'connected_gene': 'DIEXF', 'score': 11.02}, {'connected_gene': 'TRAF3IP3', 'score': 10.1}, {'connected_gene': 'SYT14', 'score': 6.03}, {'connected_gene': 'C1orf74', 'score': 0.39}]
chr1 GH01I209829 209829059 209832767 0.49 [{'connected_gene': 'IRF6', 'score': 21.3}, {'connected_gene': 'DIEXF', 'score': 14.59}, {'connected_gene': 'SYT14', 'score': 11.2}, {'connected_gene': 'C1orf74', 'score': 10.75}, {'connected_gene': 'TRAF3IP3', 'score': 9.7}, {'connected_gene': 'GC01M209934', 'score': 0.14}]
chr1 GH01I209834 209834901 209837225 0.52 [{'connected_gene': 'IRF6', 'score': 21.25}, {'connected_gene': 'DIEXF', 'score': 14.04}, {'connected_gene': 'SYT14', 'score': 11.0}, {'connected_gene': 'GC01M209934', 'score': 0.15}]
chr1 GH01I209844 209844680 209847089 0.52 [{'connected_gene': 'IRF6', 'score': 20.8}, {'connected_gene': 'SYT14', 'score': 11.52}, {'connected_gene': 'TRAF3IP3', 'score': 8.39}, {'connected_gene': 'DIEXF', 'score': 0.37}, {'connected_gene': 'GC01M209934', 'score': 0.16}]
chr1 GH01I209838 209838094 209842183 1.16 [{'connected_gene': 'IRF6', 'score': 20.64}, {'connected_gene': 'SYT14', 'score': 14.59}, {'connected_gene': 'TRAF3IP3', 'score': 8.32}, {'connected_gene': 'DIEXF', 'score': 0.39}, {'connected_gene': 'GC01M209934', 'score': 0.15}]
chr1 GH01I209853 209853219 209857384 0.43 [{'connected_gene': 'IRF6', 'score': 20.35}, {'connected_gene': 'SYT14', 'score': 16.97}, {'connected_gene': 'TRAF3IP3', 'score': 11.7}, {'connected_gene': 'DIEXF', 'score': 11.22}, {'connected_gene': 'GC01M209934', 'score': 0.18}]
chr1 GH01I209814 209814153 209818041 1.48 [{'connected_gene': 'IRF6', 'score': 17.61}, {'connected_gene': 'C1orf74', 'score': 11.48}, {'connected_gene': 'LOC101930114', 'score': 10.41}, {'connected_gene': 'SYT14', 'score': 7.54}, {'connected_gene': 'LAMB3', 'score': 2.92}, {'connected_gene': 'DIEXF', 'score': 0.39}]
chr1 GH01I209822 209822523 209829001 2.48 [{'connected_gene': 'DIEXF', 'score': 566.01}, {'connected_gene': 'IRF6', 'score': 21.07}, {'connected_gene': 'SYT14', 'score': 14.57}, {'connected_gene': 'C1orf74', 'score': 11.45}, {'connected_gene': 'LOC101930114', 'score': 10.39}, {'connected_gene': 'TRAF3IP3', 'score': 10.25}]
chr1 GH01I209869 209869371 209876305 1.1 [{'connected_gene': 'SYT14', 'score': 35.08}, {'connected_gene': 'TRAF3IP3', 'score': 12.85}, {'connected_gene': 'IRF6', 'score': 9.49}, {'connected_gene': 'DIEXF', 'score': 0.26}, {'connected_gene': 'GC01M209934', 'score': 0.2}]
chr1 GH01I209879 209879331 209880554 0.84 [{'connected_gene': 'SYT14', 'score': 34.33}, {'connected_gene': 'TRAF3IP3', 'score': 10.0}, {'connected_gene': 'DIEXF', 'score': 0.23}, {'connected_gene': 'GC01M209934', 'score': 0.22}]
chr1 GH01I209876 209876597 209877921 0.57 [{'connected_gene': 'SYT14', 'score': 32.8}, {'connected_gene': 'TRAF3IP3', 'score': 9.37}, {'connected_gene': 'DIEXF', 'score': 0.25}, {'connected_gene': 'GC01M209934', 'score': 0.21}]
chr1 GH01I210012 210012694 210013000 0.22 [{'connected_gene': 'SYT14', 'score': 1.34}, {'connected_gene': 'SERTAD4', 'score': 0.08}]
chr1 GH01I209863 209863203 209865056 0.54 [{'connected_gene': 'SYT14', 'score': 15.76}, {'connected_gene': 'IRF6', 'score': 11.27}, {'connected_gene': 'DIEXF', 'score': 11.05}, {'connected_gene': 'GC01M209934', 'score': 0.19}]
chr1 GH01I209899 209899657 209902636 0.74 [{'connected_gene': 'SYT14', 'score': 11.3}, {'connected_gene': 'IRF6', 'score': 7.18}, {'connected_gene': 'GC01M209934', 'score': 0.28}, {'connected_gene': 'DIEXF', 'score': 0.19}]
chr1 GH01I209882 209882085 209886500 1.66 [{'connected_gene': 'SYT14', 'score': 34.45}, {'connected_gene': 'DIEXF', 'score': 12.26}, {'connected_gene': 'IRF6', 'score': 6.69}, {'connected_gene': 'TRAF3IP3', 'score': 4.47}, {'connected_gene': 'LAMB3', 'score': 2.3}, {'connected_gene': 'GC01M209934', 'score': 0.23}]
chr1 GH01I209889 209889987 209893008 0.66 [{'connected_gene': 'SYT14', 'score': 22.18}, {'connected_gene': 'GC01M209934', 'score': 0.25}, {'connected_gene': 'DIEXF', 'score': 0.21}]
chr1 GH01I209893 209893371 209897587 0.69 [{'connected_gene': 'SYT14', 'score': 22.35}, {'connected_gene': 'DIEXF', 'score': 5.95}, {'connected_gene': 'GC01M209934', 'score': 0.26}]
chr1 GH01I209937 209937350 209938998 1.84 [{'connected_gene': 'SYT14', 'score': 550.77}, {'connected_gene': 'GC01M209934', 'score': 550.77}]
chr1 GH01I210301 210301271 210303031 0.51 [{'connected_gene': 'RNASEH1P3', 'score': 550.77}, {'connected_gene': 'ENSG00000233455', 'score': 550.77}, {'connected_gene': 'TRAF3IP3', 'score': 8.05}, {'connected_gene': 'SERTAD4-AS1', 'score': 5.64}, {'connected_gene': 'SYT14', 'score': 5.06}, {'connected_gene': 'GC01P210292', 'score': 0.44}]
chr1 GH01I209782 209782645 209788649 2.27 [{'connected_gene': 'C1orf74', 'score': 550.77}, {'connected_gene': 'TRAF3IP3', 'score': 24.87}, {'connected_gene': 'IRF6', 'score': 20.7}, {'connected_gene': 'SYT14', 'score': 6.24}]
chr1 GH01I210290 210290956 210296198 1.48 [{'connected_gene': 'GC01P210292', 'score': 550.77}, {'connected_gene': 'SERTAD4-AS1', 'score': 10.13}, {'connected_gene': 'TRAF3IP3', 'score': 8.51}, {'connected_gene': 'SYT14', 'score': 5.41}, {'connected_gene': 'HHAT', 'score': 1.91}, {'connected_gene': 'RNASEH1P3', 'score': 0.39}]