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
ENST00000485687 [[99979843, 99979915], [99998492, 99998604], [100000561, 100000691], [100002450, 100002655], [100009421, 100009489]] [[99979862, 99979915], [99998492, 99998604], [100000561, 100000691], [100002450, 100002655], [100009421, 100009489]]
ENST00000344949 [[99979844, 99979915], [99998492, 99998604], [100000585, 100000691], [100002450, 100002655], [100009421, 100009545], [100013930, 100014055], [100014145, 100014192], [100015015, 100015119], [100016766, 100016889], [100018082, 100018175], [100020910, 100021081], [100023689, 100023732], [100025280, 100025387], [100029246, 100029386], [100034942, 100035031], [100037912, 100038048], [100039620, 100039815], [100042430, 100044095]] [[99979862, 99979915], [99998492, 99998604], [100000585, 100000691], [100002450, 100002655], [100009421, 100009545], [100013930, 100014055], [100014145, 100014192], [100015015, 100015119], [100016766, 100016889], [100018082, 100018175], [100020910, 100021081], [100023689, 100023732], [100025280, 100025387], [100029246, 100029386], [100034942, 100035031], [100037912, 100038048], [100039620, 100039815], [100042430, 100042512]]
ENST00000394144 [[99979855, 99979915], [99998492, 99998604], [100000585, 100000691], [100002450, 100002655], [100009421, 100009545], [100013930, 100014055], [100014145, 100014192], [100015015, 100015119], [100016766, 100016889], [100018082, 100018175], [100020910, 100021081], [100023689, 100023732], [100025280, 100025387], [100029246, 100029386], [100030676, 100030721], [100034942, 100035031], [100037912, 100038048], [100039620, 100039815], [100042430, 100044082]] [[99979862, 99979915], [99998492, 99998604], [100000585, 100000691], [100002450, 100002655], [100009421, 100009545], [100013930, 100014055], [100014145, 100014192], [100015015, 100015119], [100016766, 100016889], [100018082, 100018175], [100020910, 100021081], [100023689, 100023732], [100025280, 100025387], [100029246, 100029386], [100030676, 100030721], [100034942, 100035031], [100037912, 100038048], [100039620, 100039815], [100042430, 100042512]]
ENST00000486274 [[99979907, 99980389], [99998492, 99998604], [100000585, 100000691], [100002450, 100002655], [100009421, 100009545], [100013930, 100014055], [100014145, 100014192], [100015015, 100015119], [100016766, 100016889], [100018082, 100018175], [100020910, 100021081], [100023689, 100023732], [100025280, 100025387], [100029246, 100029386], [100034942, 100035031], [100037912, 100038048], [100039620, 100039815], [100042430, 100044082]] None
ENST00000471098 [[99986035, 99986092], [99998492, 99998604], [100000585, 100000691], [100002450, 100002655], [100009421, 100009500]] [[99986081, 99986092], [99998492, 99998604], [100000585, 100000691], [100002450, 100002655], [100009421, 100009500]]
ENST00000475134 [[99998283, 99998604], [100000585, 100000691], [100009421, 100009545], [100013930, 100014055], [100014145, 100014192], [100015015, 100015119], [100016766, 100016889], [100018082, 100018175], [100020910, 100021081], [100023689, 100023732], [100025280, 100025387], [100029246, 100029386], [100030676, 100030721], [100034942, 100035031], [100037912, 100038048], [100039620, 100039815], [100042430, 100042535]] [[100000626, 100000691], [100009421, 100009545], [100013930, 100014055], [100014145, 100014192], [100015015, 100015119], [100016766, 100016889], [100018082, 100018175], [100020910, 100021081], [100023689, 100023732], [100025280, 100025387], [100029246, 100029386], [100030676, 100030721], [100034942, 100035031], [100037912, 100038048], [100039620, 100039815], [100042430, 100042512]]
ENST00000484231 [[99998491, 99998604], [100000585, 100000691], [100002450, 100002893]] None
ENST00000496167 [[100020682, 100021081], [100023689, 100023732], [100025280, 100025387], [100029246, 100029265]] None
ENST00000471273 [[100034706, 100035031], [100037912, 100038048], [100039620, 100039815], [100042430, 100044078]] None
NM_018309 [[99979660, 99979915], [99998492, 99998604], [100000585, 100000691], [100002450, 100002655], [100009421, 100009545], [100013930, 100014055], [100014145, 100014192], [100015015, 100015119], [100016766, 100016889], [100018082, 100018175], [100020910, 100021081], [100023689, 100023732], [100025280, 100025387], [100029246, 100029386], [100034942, 100035031], [100037912, 100038048], [100039620, 100039815], [100042430, 100044096]] [[99979862, 99979915], [99998492, 99998604], [100000585, 100000691], [100002450, 100002655], [100009421, 100009545], [100013930, 100014055], [100014145, 100014192], [100015015, 100015119], [100016766, 100016889], [100018082, 100018175], [100020910, 100021081], [100023689, 100023732], [100025280, 100025387], [100029246, 100029386], [100034942, 100035031], [100037912, 100038048], [100039620, 100039815], [100042430, 100042512]]
NM_001199198 [[99979660, 99979915], [99998492, 99998604], [100000585, 100000691], [100002450, 100002655], [100009421, 100009545], [100013930, 100014055], [100014145, 100014192], [100015015, 100015119], [100016766, 100016889], [100018082, 100018175], [100020910, 100021081], [100023689, 100023732], [100025280, 100025387], [100029246, 100029386], [100030676, 100030721], [100034942, 100035031], [100037912, 100038048], [100039620, 100039815], [100042430, 100044096]] [[99979862, 99979915], [99998492, 99998604], [100000585, 100000691], [100002450, 100002655], [100009421, 100009545], [100013930, 100014055], [100014145, 100014192], [100015015, 100015119], [100016766, 100016889], [100018082, 100018175], [100020910, 100021081], [100023689, 100023732], [100025280, 100025387], [100029246, 100029386], [100030676, 100030721], [100034942, 100035031], [100037912, 100038048], [100039620, 100039815], [100042430, 100042512]]
Promoter
Chrom Start End Description
chr3 99979759 99979770 CAGE_peak_2_at_TBC1D23_5end
chr3 99979773 99979784 CAGE_peak_3_at_TBC1D23_5end
chr3 99979828 99979871 CAGE_peak_1_at_TBC1D23_5end
chr3 99980143 99980163 CAGE_peak_4_at_TBC1D23_5end
chr3 99980167 99980181 CAGE_peak_5_at_TBC1D23_5end
chr3 99986062 99986093 CAGE_peak_8_at_TBC1D23_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I100072 100072202 100078089 1.35 [{'connected_gene': 'CMSS1', 'score': 18.9}, {'connected_gene': 'FILIP1L', 'score': 17.76}, {'connected_gene': 'TBC1D23', 'score': 16.58}, {'connected_gene': 'TMEM30CP', 'score': 10.27}, {'connected_gene': 'GC03M100078', 'score': 0.39}, {'connected_gene': 'PIR33357', 'score': 0.29}]
chr3 GH03I100103 100103585 100106933 1.23 [{'connected_gene': 'TMEM30CP', 'score': 10.49}, {'connected_gene': 'TBC1D23', 'score': 10.41}, {'connected_gene': 'FILIP1L', 'score': 7.29}, {'connected_gene': 'GC03M100108', 'score': 0.77}, {'connected_gene': 'GC03M100078', 'score': 0.37}, {'connected_gene': 'CMSS1', 'score': 0.06}]
chr3 GH03I100209 100209085 100211936 0.83 [{'connected_gene': 'TMEM30CP', 'score': 11.94}, {'connected_gene': 'FILIP1L', 'score': 10.49}, {'connected_gene': 'CMSS1', 'score': 10.39}, {'connected_gene': 'TBC1D23', 'score': 8.23}, {'connected_gene': 'GC03M100180', 'score': 0.39}, {'connected_gene': 'DUSP12P1', 'score': 0.39}]
chr3 GH03I100309 100309248 100309631 0.22 [{'connected_gene': 'NIT2', 'score': 11.94}, {'connected_gene': 'TBC1D23', 'score': 11.91}, {'connected_gene': 'LNP1', 'score': 10.82}, {'connected_gene': 'TOMM70', 'score': 10.82}, {'connected_gene': 'TFG', 'score': 9.79}]
chr3 GH03I100333 100333694 100337095 1.99 [{'connected_gene': 'NIT2', 'score': 563.51}, {'connected_gene': 'LNP1', 'score': 31.32}, {'connected_gene': 'TOMM70', 'score': 18.25}, {'connected_gene': 'TBC1D23', 'score': 16.69}]
chr3 GH03I100262 100262801 100263000 0.73 [{'connected_gene': 'TBC1D23', 'score': 37.92}, {'connected_gene': 'GC03P100236', 'score': 0.31}, {'connected_gene': 'NIT2', 'score': 0.19}]
chr3 GH03I100268 100268412 100271366 0.95 [{'connected_gene': 'TBC1D23', 'score': 8.43}, {'connected_gene': 'NIT2', 'score': 0.21}]
chr3 GH03I100259 100259170 100262520 2.03 [{'connected_gene': 'TBC1D23', 'score': 587.92}, {'connected_gene': 'GC03P100236', 'score': 0.34}, {'connected_gene': 'NIT2', 'score': 0.19}]
chr3 GH03I100289 100289020 100290106 0.85 [{'connected_gene': 'TBC1D23', 'score': 8.31}, {'connected_gene': 'NIT2', 'score': 0.25}]
chr3 GH03I100264 100264801 100265000 0.49 [{'connected_gene': 'TBC1D23', 'score': 6.19}, {'connected_gene': 'NIT2', 'score': 0.2}]
chr3 GH03I100263 100263401 100264600 0.66 [{'connected_gene': 'TBC1D23', 'score': 37.92}, {'connected_gene': 'GC03P100236', 'score': 0.31}, {'connected_gene': 'NIT2', 'score': 0.19}]
chr3 GH03I100424 100424966 100425986 0.59 [{'connected_gene': 'TBC1D23', 'score': 4.39}, {'connected_gene': 'PIR48705', 'score': 0.34}, {'connected_gene': 'LNP1', 'score': 0.34}, {'connected_gene': 'GC03P100464', 'score': 0.28}]
chr3 GH03I100068 100068795 100069200 1.22 [{'connected_gene': 'TBC1D23', 'score': 18.22}, {'connected_gene': 'FILIP1L', 'score': 10.79}, {'connected_gene': 'CMSS1', 'score': 10.61}, {'connected_gene': 'TMEM30CP', 'score': 10.26}, {'connected_gene': 'GC03M100078', 'score': 0.37}, {'connected_gene': 'PIR33357', 'score': 0.34}]
chr3 GH03I100053 100053355 100054863 0.31 [{'connected_gene': 'TBC1D23', 'score': 4.09}, {'connected_gene': 'PIR33357', 'score': 0.44}, {'connected_gene': 'GC03M100078', 'score': 0.29}, {'connected_gene': 'FILIP1L', 'score': 0.21}, {'connected_gene': 'CMSS1', 'score': 0.07}]
chr3 GH03I100096 100096944 100100080 1.05 [{'connected_gene': 'TBC1D23', 'score': 10.48}, {'connected_gene': 'GC03M100078', 'score': 0.39}, {'connected_gene': 'GC03M100108', 'score': 0.39}, {'connected_gene': 'FILIP1L', 'score': 0.37}, {'connected_gene': 'CMSS1', 'score': 0.06}]
chr3 GH03I099864 99864588 99868299 1.16 [{'connected_gene': 'TBC1D23', 'score': 18.19}, {'connected_gene': 'FILIP1L', 'score': 11.14}, {'connected_gene': 'TMEM45A', 'score': 5.13}, {'connected_gene': 'PIR40829', 'score': 0.37}, {'connected_gene': 'GC03M099852', 'score': 0.34}, {'connected_gene': 'CMSS1', 'score': 0.25}]
chr3 GH03I100253 100253801 100254600 0.91 [{'connected_gene': 'TBC1D23', 'score': 0.44}, {'connected_gene': 'GC03P100236', 'score': 0.37}]
chr3 GH03I100256 100256682 100258082 0.77 [{'connected_gene': 'TBC1D23', 'score': 25.0}, {'connected_gene': 'GC03P100236', 'score': 0.34}]
chr3 GH03I100226 100226129 100228058 0.95 [{'connected_gene': 'VTI1BP1', 'score': 550.77}, {'connected_gene': 'TBC1D23', 'score': 16.66}, {'connected_gene': 'FILIP1L', 'score': 11.18}, {'connected_gene': 'CMSS1', 'score': 11.09}, {'connected_gene': 'GC03P100236', 'score': 0.44}]
chr3 GH03I100168 100168129 100171260 0.51 [{'connected_gene': 'VTI1BP1', 'score': 11.72}, {'connected_gene': 'FILIP1L', 'score': 11.49}, {'connected_gene': 'CMSS1', 'score': 11.32}, {'connected_gene': 'TBC1D23', 'score': 10.3}, {'connected_gene': 'GC03P100180', 'score': 0.44}, {'connected_gene': 'GC03P100163', 'score': 0.44}]
chr3 GH03I100399 100399390 100404289 2.07 [{'connected_gene': 'LNP1', 'score': 570.83}, {'connected_gene': 'TOMM70', 'score': 558.51}, {'connected_gene': 'PIR48705', 'score': 550.77}, {'connected_gene': 'TBC1D23', 'score': 11.06}, {'connected_gene': 'TFG', 'score': 9.84}, {'connected_gene': 'GC03P100464', 'score': 0.21}]
chr3 GH03I100316 100316657 100316846 0.67 [{'connected_gene': 'LNP1', 'score': 10.59}, {'connected_gene': 'TOMM70', 'score': 10.59}, {'connected_gene': 'TFG', 'score': 10.31}, {'connected_gene': 'TBC1D23', 'score': 7.37}, {'connected_gene': 'NIT2', 'score': 0.37}]
chr3 GH03I100050 100050148 100050258 0.22 [{'connected_gene': 'FILIP1L', 'score': 17.81}, {'connected_gene': 'CMSS1', 'score': 11.93}, {'connected_gene': 'TBC1D23', 'score': 10.24}, {'connected_gene': 'PIR33357', 'score': 0.44}, {'connected_gene': 'GC03M100078', 'score': 0.28}]
chr3 GH03I100083 100083683 100085329 0.31 [{'connected_gene': 'FILIP1L', 'score': 12.29}, {'connected_gene': 'CMSS1', 'score': 12.06}, {'connected_gene': 'TBC1D23', 'score': 10.92}, {'connected_gene': 'GC03M100078', 'score': 0.77}, {'connected_gene': 'PIR33357', 'score': 0.28}]
chr3 GH03I099858 99858583 99863984 1.32 [{'connected_gene': 'FILIP1L', 'score': 30.45}, {'connected_gene': 'TBC1D23', 'score': 11.1}, {'connected_gene': 'CMSS1', 'score': 10.18}, {'connected_gene': 'TOMM70', 'score': 3.98}, {'connected_gene': 'PIR40829', 'score': 0.39}, {'connected_gene': 'GC03M099852', 'score': 0.31}]
chr3 GH03I100071 100071401 100071600 0.4 [{'connected_gene': 'FILIP1L', 'score': 17.65}, {'connected_gene': 'TBC1D23', 'score': 12.43}, {'connected_gene': 'CMSS1', 'score': 10.61}, {'connected_gene': 'TMEM30CP', 'score': 10.27}, {'connected_gene': 'GC03M100078', 'score': 0.37}, {'connected_gene': 'PIR33357', 'score': 0.31}]
chr3 GH03I100031 100031368 100035115 0.94 [{'connected_gene': 'FILIP1L', 'score': 23.02}, {'connected_gene': 'TBC1D23', 'score': 10.49}, {'connected_gene': 'CMSS1', 'score': 10.1}, {'connected_gene': 'GC03M100019', 'score': 0.77}, {'connected_gene': 'GC03M100040', 'score': 0.44}, {'connected_gene': 'LOC105374010', 'score': 0.44}]
chr3 GH03I100061 100061237 100061386 0.74 [{'connected_gene': 'FILIP1L', 'score': 10.78}, {'connected_gene': 'TBC1D23', 'score': 10.63}, {'connected_gene': 'CMSS1', 'score': 10.61}, {'connected_gene': 'PIR33357', 'score': 0.37}, {'connected_gene': 'GC03M100078', 'score': 0.31}]
chr3 GH03I100059 100059207 100060288 0.31 [{'connected_gene': 'FILIP1L', 'score': 17.97}, {'connected_gene': 'TBC1D23', 'score': 10.63}, {'connected_gene': 'CMSS1', 'score': 10.61}, {'connected_gene': 'PIR33357', 'score': 0.39}, {'connected_gene': 'GC03M100078', 'score': 0.31}]
chr3 GH03I099854 99854666 99858435 0.82 [{'connected_gene': 'FILIP1L', 'score': 29.1}, {'connected_gene': 'TBC1D23', 'score': 11.1}, {'connected_gene': 'CMSS1', 'score': 10.19}, {'connected_gene': 'PIR40829', 'score': 0.44}, {'connected_gene': 'GC03M099852', 'score': 0.29}]
chr3 GH03I100063 100063596 100065499 1.24 [{'connected_gene': 'FILIP1L', 'score': 18.03}, {'connected_gene': 'TBC1D23', 'score': 11.58}, {'connected_gene': 'CMSS1', 'score': 10.66}, {'connected_gene': 'PIR33357', 'score': 0.37}, {'connected_gene': 'GC03M100078', 'score': 0.34}]
chr3 GH03I100009 100009226 100009767 0.2 [{'connected_gene': 'FILIP1L', 'score': 7.62}, {'connected_gene': 'TBC1D23', 'score': 4.82}, {'connected_gene': 'GC03M100013', 'score': 0.77}, {'connected_gene': 'GC03M099972', 'score': 0.28}, {'connected_gene': 'CMSS1', 'score': 0.08}]
chr3 GH03I100000 100000351 100004565 1.2 [{'connected_gene': 'FILIP1L', 'score': 13.03}, {'connected_gene': 'TBC1D23', 'score': 12.22}, {'connected_gene': 'GC03M100013', 'score': 0.39}, {'connected_gene': 'GC03M099972', 'score': 0.31}, {'connected_gene': 'CMSS1', 'score': 0.09}]
chr3 GH03I100005 100005601 100006200 0.44 [{'connected_gene': 'FILIP1L', 'score': 6.79}, {'connected_gene': 'TBC1D23', 'score': 3.29}, {'connected_gene': 'GC03M100013', 'score': 0.44}, {'connected_gene': 'GC03M099972', 'score': 0.29}, {'connected_gene': 'CMSS1', 'score': 0.09}]
chr3 GH03I099869 99869733 99878573 2.71 [{'connected_gene': 'FILIP1L', 'score': 570.0}, {'connected_gene': 'TBC1D23', 'score': 4.79}, {'connected_gene': 'TMEM45A', 'score': 4.4}, {'connected_gene': 'GC03M099852', 'score': 0.37}, {'connected_gene': 'PIR40829', 'score': 0.34}, {'connected_gene': 'CMSS1', 'score': 0.22}]
chr3 GH03I099845 99845601 99847638 1.2 [{'connected_gene': 'FILIP1L', 'score': 19.71}, {'connected_gene': 'TBC1D23', 'score': 12.03}, {'connected_gene': 'PIR39775', 'score': 0.77}, {'connected_gene': 'HP09053', 'score': 0.34}, {'connected_gene': 'CMSS1', 'score': 0.31}]
chr3 GH03I099895 99895201 99897399 1.5 [{'connected_gene': 'FILIP1L', 'score': 20.01}, {'connected_gene': 'TBC1D23', 'score': 2.31}, {'connected_gene': 'GC03M099852', 'score': 0.44}, {'connected_gene': 'LOC100506400', 'score': 0.31}, {'connected_gene': 'CMSS1', 'score': 0.18}]
chr3 GH03I100156 100156955 100161742 0.92 [{'connected_gene': 'LOC105374009', 'score': 550.77}, {'connected_gene': 'FILIP1L', 'score': 19.86}, {'connected_gene': 'TMEM30CP', 'score': 11.35}, {'connected_gene': 'CMSS1', 'score': 10.92}, {'connected_gene': 'TBC1D23', 'score': 5.44}, {'connected_gene': 'COL8A1', 'score': 3.83}, {'connected_gene': 'GC03P100154', 'score': 0.77}]
chr3 GH03I099824 99824490 99826216 0.98 [{'connected_gene': 'HP09053', 'score': 550.77}, {'connected_gene': 'FILIP1L', 'score': 17.54}, {'connected_gene': 'TBC1D23', 'score': 10.12}, {'connected_gene': 'TOMM70', 'score': 3.98}, {'connected_gene': 'CMSS1', 'score': 0.44}, {'connected_gene': 'PIR39775', 'score': 0.34}]
chr3 GH03I100225 100225201 100225879 0.9 [{'connected_gene': 'DUSP12P1', 'score': 550.77}, {'connected_gene': 'VTI1BP1', 'score': 550.77}, {'connected_gene': 'TBC1D23', 'score': 18.74}, {'connected_gene': 'FILIP1L', 'score': 11.18}, {'connected_gene': 'CMSS1', 'score': 11.09}, {'connected_gene': 'GC03P100236', 'score': 0.39}]
chr3 GH03I100163 100163599 100165079 0.86 [{'connected_gene': 'GC03P100163', 'score': 550.77}, {'connected_gene': 'TMEM30CP', 'score': 11.03}, {'connected_gene': 'TBC1D23', 'score': 5.5}, {'connected_gene': 'GC03P100180', 'score': 0.37}, {'connected_gene': 'CMSS1', 'score': 0.05}]
chr3 GH03I100087 100087317 100087486 0.94 [{'connected_gene': 'GC03M100078', 'score': 550.77}, {'connected_gene': 'FILIP1L', 'score': 12.04}, {'connected_gene': 'CMSS1', 'score': 11.79}, {'connected_gene': 'TBC1D23', 'score': 11.3}, {'connected_gene': 'GC03M100108', 'score': 0.34}]
chr3 GH03I100085 100085365 100085803 0.2 [{'connected_gene': 'GC03M100078', 'score': 550.77}, {'connected_gene': 'FILIP1L', 'score': 12.31}, {'connected_gene': 'CMSS1', 'score': 12.06}, {'connected_gene': 'TBC1D23', 'score': 11.3}, {'connected_gene': 'PIR33357', 'score': 0.26}]
chr3 GH03I100039 100039706 100049473 1.61 [{'connected_gene': 'GC03M100040', 'score': 550.77}, {'connected_gene': 'PIR33357', 'score': 550.77}, {'connected_gene': 'FILIP1L', 'score': 23.66}, {'connected_gene': 'TBC1D23', 'score': 21.32}, {'connected_gene': 'CMSS1', 'score': 12.41}, {'connected_gene': 'TMEM45A', 'score': 1.85}]
chr3 GH03I099850 99850974 99851033 0.81 [{'connected_gene': 'PIR40829', 'score': 550.77}, {'connected_gene': 'PIR39775', 'score': 550.77}, {'connected_gene': 'FILIP1L', 'score': 550.07}, {'connected_gene': 'TBC1D23', 'score': 11.42}, {'connected_gene': 'CMSS1', 'score': 0.29}, {'connected_gene': 'GC03M099852', 'score': 0.28}]

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