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
ENST00000602377 [[67708433, 67709956], [67719414, 67719705], [67753065, 67753242]] None
ENST00000268797 [[67708435, 67709956], [67719359, 67719705], [67753065, 67753324]] [[67709057, 67709956], [67719359, 67719618]]
ENST00000602522 [[67708436, 67711387]] None
ENST00000602627 [[67709802, 67709956], [67711668, 67711760], [67719359, 67719515]] None
ENST00000602496 [[67714651, 67715393], [67718580, 67719705], [67753065, 67753227]] [[67719279, 67719618]]
ENST00000602279 [[67714676, 67717618]] None
ENST00000602855 [[67717182, 67717487], [67719359, 67719705], [67753065, 67753233]] None
NM_030819 [[67708435, 67709956], [67719359, 67719705], [67753065, 67753273]] [[67709057, 67709956], [67719359, 67719618]]
NR_027398 [[67708435, 67709956], [67753065, 67753273]] None
NM_001243650 [[67714618, 67719705], [67753065, 67753273]] [[67719279, 67719618]]
Promoter
Chrom Start End Description
chr16 67753206 67753268 CAGE_peak_1_at_GFOD2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I067708 67708221 67709360 0.46 [{'connected_gene': 'ENKD1', 'score': 11.34}, {'connected_gene': 'C16orf86', 'score': 11.34}, {'connected_gene': 'PRMT7', 'score': 10.98}, {'connected_gene': 'PARD6A', 'score': 10.92}, {'connected_gene': 'ACD', 'score': 10.92}, {'connected_gene': 'CENPT', 'score': 10.72}, {'connected_gene': 'THAP11', 'score': 10.71}, {'connected_gene': 'RANBP10', 'score': 10.66}, {'connected_gene': 'TSNAXIP1', 'score': 10.66}, {'connected_gene': 'CARMIL2', 'score': 10.28}, {'connected_gene': 'EDC4', 'score': 10.16}, {'connected_gene': 'ENSG00000237718', 'score': 10.06}, {'connected_gene': 'RIPOR1', 'score': 9.9}, {'connected_gene': 'PSKH1', 'score': 9.66}, {'connected_gene': 'NRN1L', 'score': 9.55}, {'connected_gene': 'GFOD2', 'score': 0.39}, {'connected_gene': 'PIR36768', 'score': 0.31}]
chr16 GH16I067714 67714213 67714272 0.61 [{'connected_gene': 'GFOD2', 'score': 550.44}, {'connected_gene': 'ENKD1', 'score': 10.83}, {'connected_gene': 'C16orf86', 'score': 10.83}, {'connected_gene': 'PARD6A', 'score': 10.81}, {'connected_gene': 'ACD', 'score': 10.81}, {'connected_gene': 'THAP11', 'score': 10.0}, {'connected_gene': 'EDC4', 'score': 10.0}, {'connected_gene': 'CENPT', 'score': 9.99}, {'connected_gene': 'CARMIL2', 'score': 9.7}, {'connected_gene': 'RIPOR1', 'score': 9.66}, {'connected_gene': 'ENSG00000237718', 'score': 9.25}, {'connected_gene': 'HSD11B2', 'score': 9.02}, {'connected_gene': 'NFATC3', 'score': 8.94}, {'connected_gene': 'PIR36768', 'score': 0.29}]
chr16 GH16I067718 67718024 67720747 2.04 [{'connected_gene': 'GFOD2', 'score': 555.51}, {'connected_gene': 'RANBP10', 'score': 11.3}, {'connected_gene': 'TSNAXIP1', 'score': 11.3}, {'connected_gene': 'PARD6A', 'score': 10.5}, {'connected_gene': 'ACD', 'score': 10.5}, {'connected_gene': 'TMEM208', 'score': 10.26}, {'connected_gene': 'EDC4', 'score': 10.08}, {'connected_gene': 'DUS2', 'score': 9.38}, {'connected_gene': 'PIR36768', 'score': 0.28}]
chr16 GH16I068396 68396658 68396787 0.65 [{'connected_gene': 'GFOD2', 'score': 4.17}, {'connected_gene': 'GC16M068393', 'score': 0.77}, {'connected_gene': 'SMPD3', 'score': 0.23}]
chr16 GH16I067760 67760124 67761405 0.8 [{'connected_gene': 'RANBP10', 'score': 29.15}, {'connected_gene': 'GFOD2', 'score': 13.54}, {'connected_gene': 'TSNAXIP1', 'score': 10.96}, {'connected_gene': 'LCAT', 'score': 10.85}, {'connected_gene': 'SLC12A4', 'score': 10.84}, {'connected_gene': 'EDC4', 'score': 10.48}, {'connected_gene': 'CARMIL2', 'score': 10.09}, {'connected_gene': 'ENSG00000237718', 'score': 9.88}, {'connected_gene': 'DUS2', 'score': 9.38}, {'connected_gene': 'CTCF', 'score': 2.3}, {'connected_gene': 'DPEP2', 'score': 1.66}, {'connected_gene': 'ENSG00000270165', 'score': 0.34}]
chr16 GH16I067723 67723278 67723467 0.38 [{'connected_gene': 'TSNAXIP1', 'score': 11.31}, {'connected_gene': 'RANBP10', 'score': 11.31}, {'connected_gene': 'PARD6A', 'score': 10.49}, {'connected_gene': 'ACD', 'score': 10.49}, {'connected_gene': 'EDC4', 'score': 10.09}, {'connected_gene': 'GFOD2', 'score': 0.77}, {'connected_gene': 'ENSG00000270165', 'score': 0.37}]
chr16 GH16I067731 67731838 67731987 0.2 [{'connected_gene': 'TSNAXIP1', 'score': 11.25}, {'connected_gene': 'RANBP10', 'score': 11.25}, {'connected_gene': 'ENSG00000237718', 'score': 10.03}, {'connected_gene': 'NRN1L', 'score': 9.7}, {'connected_gene': 'ENSG00000270165', 'score': 0.44}, {'connected_gene': 'GFOD2', 'score': 0.39}]
chr16 GH16I067772 67772914 67774547 0.99 [{'connected_gene': 'DUS2', 'score': 20.43}, {'connected_gene': 'GFOD2', 'score': 11.75}, {'connected_gene': 'RANBP10', 'score': 11.48}, {'connected_gene': 'TSNAXIP1', 'score': 11.48}, {'connected_gene': 'THAP11', 'score': 10.91}, {'connected_gene': 'CENPT', 'score': 10.9}, {'connected_gene': 'PARD6A', 'score': 10.64}, {'connected_gene': 'ACD', 'score': 10.64}, {'connected_gene': 'EDC4', 'score': 10.36}, {'connected_gene': 'CARMIL2', 'score': 10.19}, {'connected_gene': 'RIPOR1', 'score': 10.02}, {'connected_gene': 'DPEP3', 'score': 9.7}, {'connected_gene': 'ENSG00000237718', 'score': 9.54}, {'connected_gene': 'DDX28', 'score': 9.28}, {'connected_gene': 'ENSG00000270165', 'score': 0.29}]
chr16 GH16I068068 68068875 68073171 1.18 [{'connected_gene': 'DUS2', 'score': 24.06}, {'connected_gene': 'PRMT7', 'score': 12.35}, {'connected_gene': 'DPEP3', 'score': 10.98}, {'connected_gene': 'THAP11', 'score': 10.93}, {'connected_gene': 'DDX28', 'score': 10.88}, {'connected_gene': 'RNU6-359P', 'score': 10.72}, {'connected_gene': 'EDC4', 'score': 10.32}, {'connected_gene': 'CENPT', 'score': 10.29}, {'connected_gene': 'DPEP2', 'score': 9.0}, {'connected_gene': 'RANBP10', 'score': 5.83}, {'connected_gene': 'GFOD2', 'score': 3.82}, {'connected_gene': 'NFATC3', 'score': 2.16}, {'connected_gene': 'ACD', 'score': 1.45}, {'connected_gene': 'ENSG00000261864', 'score': 0.44}]
chr16 GH16I067684 67684838 67684947 0.72 [{'connected_gene': 'PARD6A', 'score': 11.43}, {'connected_gene': 'ACD', 'score': 11.43}, {'connected_gene': 'GFOD2', 'score': 11.01}, {'connected_gene': 'ENSG00000237718', 'score': 10.95}, {'connected_gene': 'CARMIL2', 'score': 10.79}, {'connected_gene': 'TSNAXIP1', 'score': 10.76}, {'connected_gene': 'RANBP10', 'score': 10.76}, {'connected_gene': 'PIR36768', 'score': 0.77}]
chr16 GH16I067703 67703524 67704093 0.31 [{'connected_gene': 'PARD6A', 'score': 10.99}, {'connected_gene': 'ACD', 'score': 10.99}, {'connected_gene': 'RANBP10', 'score': 10.45}, {'connected_gene': 'TSNAXIP1', 'score': 10.45}, {'connected_gene': 'RIPOR1', 'score': 10.44}, {'connected_gene': 'CARMIL2', 'score': 10.43}, {'connected_gene': 'THAP11', 'score': 10.33}, {'connected_gene': 'CENPT', 'score': 10.33}, {'connected_gene': 'PSKH1', 'score': 10.27}, {'connected_gene': 'ENSG00000237718', 'score': 10.27}, {'connected_gene': 'NRN1L', 'score': 10.01}, {'connected_gene': 'NFATC3', 'score': 8.65}, {'connected_gene': 'DPEP2', 'score': 8.42}, {'connected_gene': 'GFOD2', 'score': 0.37}, {'connected_gene': 'PIR36768', 'score': 0.34}]
chr16 GH16I067697 67697513 67698372 0.4 [{'connected_gene': 'PARD6A', 'score': 11.01}, {'connected_gene': 'ACD', 'score': 11.01}, {'connected_gene': 'PRMT7', 'score': 10.98}, {'connected_gene': 'RIPOR1', 'score': 10.45}, {'connected_gene': 'RANBP10', 'score': 10.45}, {'connected_gene': 'TSNAXIP1', 'score': 10.45}, {'connected_gene': 'CARMIL2', 'score': 10.44}, {'connected_gene': 'CENPT', 'score': 10.33}, {'connected_gene': 'THAP11', 'score': 10.33}, {'connected_gene': 'ENSG00000237718', 'score': 10.28}, {'connected_gene': 'PSKH1', 'score': 10.26}, {'connected_gene': 'NRN1L', 'score': 10.01}, {'connected_gene': 'DUS2', 'score': 9.4}, {'connected_gene': 'NFATC3', 'score': 8.66}, {'connected_gene': 'PIR36768', 'score': 0.37}, {'connected_gene': 'GFOD2', 'score': 0.34}]
chr16 GH16I067676 67676355 67679116 1.01 [{'connected_gene': 'CARMIL2', 'score': 11.5}, {'connected_gene': 'ENSG00000237718', 'score': 11.17}, {'connected_gene': 'GFOD2', 'score': 10.5}, {'connected_gene': 'LRRC36', 'score': 9.96}, {'connected_gene': 'DUS2', 'score': 9.84}, {'connected_gene': 'DPEP2', 'score': 8.51}, {'connected_gene': 'PIR62194', 'score': 0.77}, {'connected_gene': 'PIR36768', 'score': 0.77}]
chr16 GH16I068655 68655901 68661722 1.24 [{'connected_gene': 'CDH3', 'score': 12.48}, {'connected_gene': 'ENSG00000252640', 'score': 12.4}, {'connected_gene': 'ENSG00000252040', 'score': 12.4}, {'connected_gene': 'RNU4-36P', 'score': 11.21}, {'connected_gene': 'ZFP90', 'score': 9.88}, {'connected_gene': 'GFOD2', 'score': 4.02}, {'connected_gene': 'PRMT7', 'score': 3.99}, {'connected_gene': 'LOC100418868', 'score': 0.44}, {'connected_gene': 'HSPE1P5', 'score': 0.31}]
chr16 GH16I067672 67672298 67675161 1.22 [{'connected_gene': 'PIR62194', 'score': 550.77}, {'connected_gene': 'PRMT7', 'score': 10.52}, {'connected_gene': 'GFOD2', 'score': 10.48}, {'connected_gene': 'HSD11B2', 'score': 4.11}, {'connected_gene': 'PIR36768', 'score': 0.44}]
chr16 GH16I067890 67890078 67891255 0.89 [{'connected_gene': 'GC16P067891', 'score': 550.77}, {'connected_gene': 'GC16M067888', 'score': 550.77}, {'connected_gene': 'PRMT7', 'score': 21.97}, {'connected_gene': 'EDC4', 'score': 11.95}, {'connected_gene': 'HSF4', 'score': 11.01}, {'connected_gene': 'KIAA0895L', 'score': 10.14}, {'connected_gene': 'GFOD2', 'score': 4.42}, {'connected_gene': 'GC16P067888', 'score': 0.77}]