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
ENST00000567193 [[67261005, 67261127], [67261738, 67261834], [67262257, 67262317], [67262397, 67262784], [67262878, 67263128]] None
ENST00000563168 [[67261015, 67261127], [67261738, 67263151]] None
ENST00000304800 [[67261015, 67261127], [67261738, 67261834], [67262257, 67262317], [67262397, 67262534], [67262699, 67262784], [67262878, 67263181]] [[67261121, 67261127], [67261738, 67261834], [67262257, 67262317], [67262397, 67262534], [67262699, 67262784], [67262878, 67263016]]
ENST00000566486 [[67261020, 67261127], [67261516, 67262205]] None
ENST00000563953 [[67261022, 67261127], [67261621, 67261834], [67262257, 67262317], [67262397, 67262534], [67262699, 67262784], [67262878, 67263165]] [[67262445, 67262534], [67262699, 67262784], [67262878, 67263016]]
ENST00000561586 [[67261047, 67261127], [67261738, 67261834], [67262257, 67262317], [67262397, 67262859]] None
ENST00000562235 [[67261059, 67261127], [67261738, 67261834], [67262257, 67262317], [67262397, 67262560], [67262699, 67262784], [67262878, 67263181]] [[67261121, 67261127], [67261738, 67261834], [67262257, 67262317], [67262397, 67262538]]
ENST00000565201 [[67261070, 67261127], [67261738, 67261834], [67262257, 67262317], [67262397, 67262534], [67262699, 67263181]] [[67261121, 67261127], [67261738, 67261834], [67262257, 67262317], [67262397, 67262534], [67262699, 67262823]]
ENST00000564087 [[67261115, 67261127], [67261516, 67261834], [67262257, 67262317], [67262397, 67262525]] [[67261121, 67261127], [67261516, 67261621]]
ENST00000563426 [[67262420, 67262534], [67262699, 67262739], [67262878, 67263181]] None
ENST00000563271 [[67262428, 67262739], [67262878, 67263181]] None
ENST00000564649 [[67262573, 67262784], [67262878, 67263181]] None
NM_014187 [[67261015, 67261127], [67261738, 67261834], [67262257, 67262317], [67262397, 67262534], [67262699, 67262784], [67262878, 67263182]] [[67261121, 67261127], [67261738, 67261834], [67262257, 67262317], [67262397, 67262534], [67262699, 67262784], [67262878, 67263016]]
NR_134524 [[67261015, 67261127], [67261738, 67261834], [67262257, 67262317], [67262397, 67262560], [67262699, 67262784], [67262878, 67263182]] None
NM_001318217 [[67261015, 67261127], [67261621, 67261834], [67262257, 67262317], [67262397, 67262534], [67262699, 67262784], [67262878, 67263182]] [[67262445, 67262534], [67262699, 67262784], [67262878, 67263016]]
Promoter
Chrom Start End Description
chr16 67261008 67261073 CAGE_peak_1_at_TMEM208_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I067345 67345073 67345940 0.2 [{'connected_gene': 'ATP6V0D1', 'score': 16.33}, {'connected_gene': 'RNU1-123P', 'score': 11.66}, {'connected_gene': 'TPPP3', 'score': 11.66}, {'connected_gene': 'PLEKHG4', 'score': 11.57}, {'connected_gene': 'ZDHHC1', 'score': 11.35}, {'connected_gene': 'HSD11B2', 'score': 11.13}, {'connected_gene': 'LRRC36', 'score': 11.05}, {'connected_gene': 'TMEM208', 'score': 10.26}, {'connected_gene': 'LRRC29', 'score': 10.26}, {'connected_gene': 'ELMO3', 'score': 10.11}, {'connected_gene': 'MIR328', 'score': 10.11}]
chr16 GH16I066977 66977600 66978001 1.36 [{'connected_gene': 'CES2', 'score': 19.71}, {'connected_gene': 'ELMO3', 'score': 14.55}, {'connected_gene': 'CBFB', 'score': 11.33}, {'connected_gene': 'B3GNT9', 'score': 11.21}, {'connected_gene': 'FBXL8', 'score': 11.14}, {'connected_gene': 'TRADD', 'score': 11.14}, {'connected_gene': 'HSF4', 'score': 11.13}, {'connected_gene': 'C16orf70', 'score': 10.91}, {'connected_gene': 'RRAD', 'score': 10.75}, {'connected_gene': 'CDH16', 'score': 10.74}, {'connected_gene': 'MIR328', 'score': 10.64}, {'connected_gene': 'KIAA0895L', 'score': 10.38}, {'connected_gene': 'E2F4', 'score': 10.38}, {'connected_gene': 'EXOC3L1', 'score': 10.38}, {'connected_gene': 'TMEM208', 'score': 9.63}, {'connected_gene': 'LRRC29', 'score': 9.63}, {'connected_gene': 'CES4A', 'score': 0.39}, {'connected_gene': 'CES3', 'score': 0.37}]
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 GH16I067235 67235702 67237430 0.86 [{'connected_gene': 'SLC9A5', 'score': 550.77}, {'connected_gene': 'ATP6V0D1', 'score': 15.27}, {'connected_gene': 'MIR328', 'score': 11.96}, {'connected_gene': 'ELMO3', 'score': 11.94}, {'connected_gene': 'LRRC36', 'score': 9.93}, {'connected_gene': 'HSD11B2', 'score': 9.18}, {'connected_gene': 'PARD6A', 'score': 8.91}, {'connected_gene': 'ACD', 'score': 8.91}, {'connected_gene': 'TMEM208', 'score': 0.44}, {'connected_gene': 'FHOD1', 'score': 0.39}]
chr16 GH16I067403 67403051 67408161 1.23 [{'connected_gene': 'LRRC36', 'score': 17.03}, {'connected_gene': 'FBXL8', 'score': 15.44}, {'connected_gene': 'E2F4', 'score': 15.01}, {'connected_gene': 'CTCF', 'score': 14.44}, {'connected_gene': 'ENSG00000260465', 'score': 13.6}, {'connected_gene': 'ENSG00000270165', 'score': 13.06}, {'connected_gene': 'HSD11B2', 'score': 11.49}, {'connected_gene': 'RANBP10', 'score': 11.26}, {'connected_gene': 'PLEKHG4', 'score': 10.89}, {'connected_gene': 'EDC4', 'score': 10.46}, {'connected_gene': 'ENSG00000263276', 'score': 10.38}, {'connected_gene': 'ENSG00000262514', 'score': 10.07}, {'connected_gene': 'TMEM208', 'score': 9.83}, {'connected_gene': 'LRRC29', 'score': 9.83}, {'connected_gene': 'ATP6V0D1', 'score': 7.78}, {'connected_gene': 'DPEP2', 'score': 7.35}, {'connected_gene': 'SLC7A6', 'score': 7.09}, {'connected_gene': 'PRMT7', 'score': 5.27}, {'connected_gene': 'TPPP3', 'score': 0.39}, {'connected_gene': 'ZDHHC1', 'score': 0.39}]
chr16 GH16I067413 67413092 67417067 2.31 [{'connected_gene': 'ZDHHC1', 'score': 550.77}, {'connected_gene': 'PRMT7', 'score': 19.39}, {'connected_gene': 'ATP6V0D1', 'score': 17.89}, {'connected_gene': 'LRRC36', 'score': 17.05}, {'connected_gene': 'FHOD1', 'score': 11.25}, {'connected_gene': 'PLEKHG4', 'score': 10.82}, {'connected_gene': 'TMEM208', 'score': 9.72}, {'connected_gene': 'LRRC29', 'score': 9.72}, {'connected_gene': 'HSD11B2', 'score': 8.71}, {'connected_gene': 'DPEP2', 'score': 7.35}, {'connected_gene': 'TPPP3', 'score': 0.34}]
chr16 GH16I067294 67294998 67295147 0.31 [{'connected_gene': 'ZDHHC1', 'score': 10.55}, {'connected_gene': 'HSD11B2', 'score': 10.5}, {'connected_gene': 'TMEM208', 'score': 10.39}, {'connected_gene': 'LRRC29', 'score': 10.39}, {'connected_gene': 'RNU1-123P', 'score': 10.34}, {'connected_gene': 'TPPP3', 'score': 10.34}, {'connected_gene': 'PIR58758', 'score': 0.77}, {'connected_gene': 'PIR55673', 'score': 0.44}, {'connected_gene': 'GC16M067290', 'score': 0.44}, {'connected_gene': 'KCTD19', 'score': 0.29}]
chr16 GH16I067295 67295198 67295347 0.31 [{'connected_gene': 'ZDHHC1', 'score': 10.55}, {'connected_gene': 'HSD11B2', 'score': 10.5}, {'connected_gene': 'TMEM208', 'score': 10.39}, {'connected_gene': 'LRRC29', 'score': 10.39}, {'connected_gene': 'RNU1-123P', 'score': 10.34}, {'connected_gene': 'TPPP3', 'score': 10.34}, {'connected_gene': 'PIR58758', 'score': 0.77}, {'connected_gene': 'PIR55673', 'score': 0.44}, {'connected_gene': 'GC16M067290', 'score': 0.44}, {'connected_gene': 'KCTD19', 'score': 0.29}]
chr16 GH16I067255 67255048 67260185 0.57 [{'connected_gene': 'TMEM208', 'score': 11.36}, {'connected_gene': 'LRRC29', 'score': 11.36}, {'connected_gene': 'EXOC3L1', 'score': 11.09}, {'connected_gene': 'E2F4', 'score': 11.09}, {'connected_gene': 'KIAA0895L', 'score': 11.08}, {'connected_gene': 'HSD11B2', 'score': 10.62}, {'connected_gene': 'ZDHHC1', 'score': 10.3}, {'connected_gene': 'LRRC36', 'score': 10.22}, {'connected_gene': 'ELMO3', 'score': 8.63}, {'connected_gene': 'ENSG00000260465', 'score': 5.65}, {'connected_gene': 'ATP6V0D1', 'score': 4.98}, {'connected_gene': 'FHOD1', 'score': 4.71}, {'connected_gene': 'ENSG00000262691', 'score': 0.77}, {'connected_gene': 'SLC9A5', 'score': 0.37}]
chr16 GH16I067225 67225678 67225827 0.43 [{'connected_gene': 'TMEM208', 'score': 550.77}, {'connected_gene': 'LOC105369155', 'score': 550.77}, {'connected_gene': 'LRRC29', 'score': 550.77}, {'connected_gene': 'ELMO3', 'score': 12.35}, {'connected_gene': 'GC16M067211', 'score': 0.39}]
chr16 GH16I067228 67228638 67228787 0.38 [{'connected_gene': 'TMEM208', 'score': 550.77}, {'connected_gene': 'LOC105369155', 'score': 550.77}, {'connected_gene': 'LRRC29', 'score': 550.77}, {'connected_gene': 'SLC9A5', 'score': 0.44}]
chr16 GH16I067226 67226139 67228359 2.09 [{'connected_gene': 'TMEM208', 'score': 550.77}, {'connected_gene': 'LOC105369155', 'score': 550.77}, {'connected_gene': 'LRRC29', 'score': 550.77}, {'connected_gene': 'EDC4', 'score': 16.4}, {'connected_gene': 'CENPT', 'score': 11.84}, {'connected_gene': 'NFATC3', 'score': 10.57}, {'connected_gene': 'KIAA0895L', 'score': 10.41}, {'connected_gene': 'DPEP2', 'score': 7.83}, {'connected_gene': 'LRRC36', 'score': 5.47}, {'connected_gene': 'SLC9A5', 'score': 0.39}]
chr16 GH16I067442 67442850 67444607 0.77 [{'connected_gene': 'GC16M067444', 'score': 550.77}, {'connected_gene': 'ATP6V0D1', 'score': 19.81}, {'connected_gene': 'ZDHHC1', 'score': 11.46}, {'connected_gene': 'TMEM208', 'score': 9.46}, {'connected_gene': 'LRRC29', 'score': 9.46}, {'connected_gene': 'LRRC36', 'score': 9.14}, {'connected_gene': 'PRMT7', 'score': 5.64}, {'connected_gene': 'ENSG00000261320', 'score': 0.39}]
chr16 GH16I067444 67444650 67453164 1.07 [{'connected_gene': 'GC16M067447', 'score': 550.77}, {'connected_gene': 'ATP6V0D1', 'score': 32.08}, {'connected_gene': 'ZDHHC1', 'score': 11.67}, {'connected_gene': 'AGRP', 'score': 11.24}, {'connected_gene': 'RIPOR1', 'score': 10.41}, {'connected_gene': 'E2F4', 'score': 10.34}, {'connected_gene': 'EXOC3L1', 'score': 10.34}, {'connected_gene': 'KIAA0895L', 'score': 10.34}, {'connected_gene': 'TMEM208', 'score': 9.9}, {'connected_gene': 'LRRC29', 'score': 9.9}, {'connected_gene': 'PARD6A', 'score': 9.83}, {'connected_gene': 'ACD', 'score': 9.83}, {'connected_gene': 'LRRC36', 'score': 9.65}, {'connected_gene': 'ENSG00000237718', 'score': 9.58}, {'connected_gene': 'CARMIL2', 'score': 9.56}, {'connected_gene': 'RANBP10', 'score': 9.23}, {'connected_gene': 'PLA2G15', 'score': 5.67}, {'connected_gene': 'PRMT7', 'score': 5.42}, {'connected_gene': 'GC16M067470', 'score': 0.34}]
chr16 GH16I067296 67296055 67296783 0.46 [{'connected_gene': 'PIR58758', 'score': 550.77}, {'connected_gene': 'ZDHHC1', 'score': 10.55}, {'connected_gene': 'HSD11B2', 'score': 10.49}, {'connected_gene': 'TMEM208', 'score': 10.39}, {'connected_gene': 'LRRC29', 'score': 10.39}, {'connected_gene': 'RNU1-123P', 'score': 10.35}, {'connected_gene': 'TPPP3', 'score': 10.34}, {'connected_gene': 'PIR55673', 'score': 0.44}, {'connected_gene': 'GC16M067290', 'score': 0.44}, {'connected_gene': 'KCTD19', 'score': 0.29}]
chr16 GH16I067260 67260468 67261233 0.95 [{'connected_gene': 'ENSG00000262691', 'score': 550.77}, {'connected_gene': 'TMEM208', 'score': 11.01}, {'connected_gene': 'LRRC29', 'score': 11.01}, {'connected_gene': 'HSD11B2', 'score': 10.62}, {'connected_gene': 'ZDHHC1', 'score': 10.26}, {'connected_gene': 'FHOD1', 'score': 0.39}, {'connected_gene': 'SLC9A5', 'score': 0.34}]