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
ENST00000304735 [[4421848, 4421994], [4430869, 4433529]] [[4430878, 4432900]]
NM_138440 [[4421848, 4421994], [4430869, 4433529]] [[4430878, 4432900]]
Promoter
Chrom Start End Description
chr16 4421841 4421855 CAGE_peak_1_at_VASN_5end
chr16 4431001 4431014 CAGE_peak_4_at_VASN_5end
chr16 4431039 4431055 CAGE_peak_3_at_VASN_5end
chr16 4431154 4431171 CAGE_peak_6_at_VASN_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I004407 4407457 4417616 2.52 [{'connected_gene': 'CORO7', 'score': 561.94}, {'connected_gene': 'CORO7-PAM16', 'score': 550.44}, {'connected_gene': 'NMRAL1', 'score': 38.07}, {'connected_gene': 'HMOX2', 'score': 11.04}, {'connected_gene': 'MGRN1', 'score': 6.39}, {'connected_gene': 'NUDT16L1', 'score': 2.58}, {'connected_gene': 'VASN', 'score': 0.26}]
chr16 GH16I004383 4383521 4390201 1.07 [{'connected_gene': 'NMRAL1', 'score': 27.23}, {'connected_gene': 'PAM16', 'score': 11.86}, {'connected_gene': 'MGRN1', 'score': 5.29}, {'connected_gene': 'VASN', 'score': 0.37}, {'connected_gene': 'CORO7-PAM16', 'score': 0.29}, {'connected_gene': 'CORO7', 'score': 0.28}]
chr16 GH16I004391 4391555 4395731 1.14 [{'connected_gene': 'NMRAL1', 'score': 29.32}, {'connected_gene': 'HMOX2', 'score': 11.95}, {'connected_gene': 'VASN', 'score': 11.91}, {'connected_gene': 'PAM16', 'score': 11.84}, {'connected_gene': 'MGRN1', 'score': 6.43}, {'connected_gene': 'CORO7-PAM16', 'score': 0.31}, {'connected_gene': 'CORO7', 'score': 0.29}]
chr16 GH16I004379 4379974 4381537 0.52 [{'connected_gene': 'NMRAL1', 'score': 20.23}, {'connected_gene': 'HMOX2', 'score': 9.5}, {'connected_gene': 'VASN', 'score': 0.44}, {'connected_gene': 'CORO7-PAM16', 'score': 0.28}, {'connected_gene': 'CORO7', 'score': 0.26}]
chr16 GH16I004381 4381694 4382525 0.46 [{'connected_gene': 'NMRAL1', 'score': 19.42}, {'connected_gene': 'MGRN1', 'score': 6.37}, {'connected_gene': 'VASN', 'score': 0.39}, {'connected_gene': 'CORO7-PAM16', 'score': 0.28}, {'connected_gene': 'CORO7', 'score': 0.26}]
chr16 GH16I004365 4365172 4365957 0.46 [{'connected_gene': 'NMRAL1', 'score': 24.92}, {'connected_gene': 'MGRN1', 'score': 5.01}, {'connected_gene': 'GC16P004366', 'score': 0.77}, {'connected_gene': 'VASN', 'score': 0.44}, {'connected_gene': 'CORO7-PAM16', 'score': 0.23}, {'connected_gene': 'CORO7', 'score': 0.21}]
chr16 GH16I004460 4460886 4462412 0.87 [{'connected_gene': 'NMRAL1', 'score': 19.57}, {'connected_gene': 'VASN', 'score': 11.07}, {'connected_gene': 'PAM16', 'score': 11.05}, {'connected_gene': 'GC16P004458', 'score': 0.77}, {'connected_gene': 'GC16M004469', 'score': 0.44}]
chr16 GH16I004402 4402315 4403449 1.1 [{'connected_gene': 'NMRAL1', 'score': 38.55}, {'connected_gene': 'CORO7-PAM16', 'score': 0.37}, {'connected_gene': 'CORO7', 'score': 0.34}, {'connected_gene': 'VASN', 'score': 0.29}]
chr16 GH16I004390 4390685 4391147 0.51 [{'connected_gene': 'PAM16', 'score': 11.84}, {'connected_gene': 'HMOX2', 'score': 9.71}, {'connected_gene': 'NMRAL1', 'score': 6.3}, {'connected_gene': 'MGRN1', 'score': 5.95}, {'connected_gene': 'VASN', 'score': 0.37}, {'connected_gene': 'CORO7-PAM16', 'score': 0.31}, {'connected_gene': 'CORO7', 'score': 0.29}]
chr16 GH16I004297 4297081 4300828 1.31 [{'connected_gene': 'PAM16', 'score': 11.85}, {'connected_gene': 'VASN', 'score': 11.82}, {'connected_gene': 'LINC01569', 'score': 10.27}, {'connected_gene': 'GC16P004295', 'score': 0.77}, {'connected_gene': 'GC16M004304', 'score': 0.44}]
chr16 GH16I004366 4366767 4368031 0.8 [{'connected_gene': 'HMOX2', 'score': 8.16}, {'connected_gene': 'NMRAL1', 'score': 6.77}, {'connected_gene': 'VASN', 'score': 0.77}, {'connected_gene': 'GC16P004366', 'score': 0.44}, {'connected_gene': 'CORO7-PAM16', 'score': 0.23}, {'connected_gene': 'CORO7', 'score': 0.22}]
chr16 GH16I004404 4404340 4405139 0.97 [{'connected_gene': 'CDIP1', 'score': 11.29}, {'connected_gene': 'CLUAP1', 'score': 10.91}, {'connected_gene': 'NMRAL1', 'score': 10.91}, {'connected_gene': 'ANKS3', 'score': 10.35}, {'connected_gene': 'CORO7-PAM16', 'score': 0.37}, {'connected_gene': 'CORO7', 'score': 0.34}, {'connected_gene': 'VASN', 'score': 0.29}]
chr16 GH16I004401 4401382 4401508 0.25 [{'connected_gene': 'UBN1', 'score': 13.86}, {'connected_gene': 'MGRN1', 'score': 7.33}, {'connected_gene': 'CORO7', 'score': 5.17}, {'connected_gene': 'GLYR1', 'score': 1.71}, {'connected_gene': 'CORO7-PAM16', 'score': 0.37}, {'connected_gene': 'VASN', 'score': 0.31}]
chr16 GH16I004313 4313440 4325691 1.95 [{'connected_gene': 'ZNF500', 'score': 34.4}, {'connected_gene': 'ANKS3', 'score': 19.88}, {'connected_gene': 'ENSG00000261938', 'score': 19.71}, {'connected_gene': 'PAM16', 'score': 13.61}, {'connected_gene': 'ZSCAN32', 'score': 12.34}, {'connected_gene': 'VASN', 'score': 12.25}, {'connected_gene': 'CREBBP', 'score': 11.87}, {'connected_gene': 'ZNF174', 'score': 11.0}, {'connected_gene': 'CLUAP1', 'score': 10.41}, {'connected_gene': 'NMRAL1', 'score': 6.29}, {'connected_gene': 'LINC01569', 'score': 5.57}, {'connected_gene': 'HMOX2', 'score': 4.94}, {'connected_gene': 'CORO7', 'score': 4.46}, {'connected_gene': 'GLIS2', 'score': 0.77}, {'connected_gene': 'GLIS2-AS1', 'score': 0.44}]
chr16 GH16I004368 4368833 4379783 2.66 [{'connected_gene': 'VASN', 'score': 550.77}, {'connected_gene': 'NMRAL1', 'score': 27.12}, {'connected_gene': 'ANKS3', 'score': 19.88}, {'connected_gene': 'CREBBP', 'score': 15.13}, {'connected_gene': 'ZNF500', 'score': 13.64}, {'connected_gene': 'ZSCAN32', 'score': 12.34}, {'connected_gene': 'ZNF174', 'score': 11.0}, {'connected_gene': 'HMOX2', 'score': 10.86}, {'connected_gene': 'CLUAP1', 'score': 10.41}, {'connected_gene': 'ENSG00000261938', 'score': 9.83}, {'connected_gene': 'MGRN1', 'score': 8.25}, {'connected_gene': 'UBN1', 'score': 7.71}, {'connected_gene': 'PAM16', 'score': 5.03}, {'connected_gene': 'GLIS2', 'score': 1.93}, {'connected_gene': 'CORO7', 'score': 1.72}, {'connected_gene': 'GC16P004366', 'score': 0.39}, {'connected_gene': 'CORO7-PAM16', 'score': 0.25}]
chr16 GH16I004382 4382659 4383348 0.31 [{'connected_gene': 'VASN', 'score': 0.39}, {'connected_gene': 'CORO7-PAM16', 'score': 0.28}, {'connected_gene': 'CORO7', 'score': 0.26}]
chr16 GH16I003694 3694629 3697750 1.21 [{'connected_gene': 'TRAP1', 'score': 39.79}, {'connected_gene': 'CLUAP1', 'score': 19.57}, {'connected_gene': 'DNASE1', 'score': 13.98}, {'connected_gene': 'VASN', 'score': 10.95}, {'connected_gene': 'LOC105371058', 'score': 6.57}, {'connected_gene': 'PIR47361', 'score': 0.44}]
chr16 GH16I004458 4458461 4460148 1.31 [{'connected_gene': 'GC16P004458', 'score': 550.77}, {'connected_gene': 'NMRAL1', 'score': 46.0}, {'connected_gene': 'VASN', 'score': 11.07}, {'connected_gene': 'PAM16', 'score': 11.05}, {'connected_gene': 'MGRN1', 'score': 6.09}, {'connected_gene': 'CORO7', 'score': 5.53}, {'connected_gene': 'GC16M004469', 'score': 0.39}]
chr16 GH16I004293 4293263 4295105 1.23 [{'connected_gene': 'GC16P004295', 'score': 550.77}, {'connected_gene': 'PAM16', 'score': 11.84}, {'connected_gene': 'VASN', 'score': 11.81}, {'connected_gene': 'LINC01569', 'score': 10.87}, {'connected_gene': 'GC16P004288', 'score': 0.44}]
chr16 GH16I004295 4295147 4295973 0.38 [{'connected_gene': 'GC16P004295', 'score': 550.77}, {'connected_gene': 'PAM16', 'score': 11.84}, {'connected_gene': 'VASN', 'score': 11.81}, {'connected_gene': 'LINC01569', 'score': 10.73}, {'connected_gene': 'GC16P004288', 'score': 0.44}]