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
ENST00000360635 [[9543603, 9547034], [9547577, 9547727], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558861], [9560118, 9560229], [9562607, 9563358]] [[9546962, 9547034], [9547577, 9547727], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558826]]
ENST00000238091 [[9545812, 9547034], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558861], [9563501, 9563635]] [[9546962, 9547034], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558826]]
ENST00000355346 [[9545812, 9547034], [9547577, 9547727], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558861], [9563501, 9563676]] [[9546962, 9547034], [9547577, 9547727], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558826]]
ENST00000483795 [[9545822, 9547034], [9548241, 9548334], [9552196, 9552534], [9554306, 9554385], [9558754, 9558861], [9563501, 9563585]] [[9552361, 9552534], [9554306, 9554385], [9558754, 9558826]]
ENST00000490426 [[9546477, 9547034], [9547577, 9547727], [9548241, 9548334], [9552397, 9552534], [9563501, 9563591]] None
ENST00000497031 [[9546776, 9547034], [9548241, 9548334], [9552397, 9552534], [9563501, 9563573]] None
ENST00000464228 [[9546788, 9547034], [9547577, 9547727], [9548241, 9548334], [9552397, 9552534], [9558754, 9558861], [9563501, 9563629]] [[9552489, 9552534], [9558754, 9558826]]
ENST00000460720 [[9546789, 9547034], [9547577, 9547727], [9548241, 9548428]] None
ENST00000465527 [[9546789, 9547034], [9548241, 9548334], [9552397, 9552846]] None
ENST00000359712 [[9546789, 9547727], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558861], [9562607, 9563379]] [[9547553, 9547727], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558826]]
ENST00000488451 [[9546795, 9547034], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558861], [9560118, 9560229], [9563501, 9563609]] [[9546962, 9547034], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558826]]
ENST00000470507 [[9546942, 9547034], [9548241, 9548533]] None
ENST00000456913 [[9547158, 9547727], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558861], [9563501, 9563559]] [[9547553, 9547727], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558826]]
ENST00000482798 [[9547671, 9547727], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9560118, 9560229], [9562607, 9562695]] None
ENST00000492079 [[9547700, 9547727], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558861], [9560118, 9560423]] [[9547700, 9547727], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558826]]
ENST00000463190 [[9548130, 9548334], [9552397, 9552534], [9554306, 9554385], [9563501, 9563651]] None
ENST00000494563 [[9548280, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558861], [9560118, 9560229], [9563094, 9563305]] [[9548280, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558826]]
ENST00000467606 [[9552397, 9552534], [9554306, 9554385], [9558754, 9558861], [9563094, 9563216]] [[9552397, 9552534], [9554306, 9554385], [9558754, 9558826]]
ENST00000484735 [[9552425, 9552534], [9554306, 9554385], [9558754, 9558861], [9562607, 9562789], [9563406, 9563469]] [[9552425, 9552534], [9554306, 9554385], [9558754, 9558826]]
ENST00000460001 [[9552432, 9552534], [9554306, 9554385], [9558754, 9558861], [9562930, 9563305]] [[9552432, 9552534], [9554306, 9554385], [9558754, 9558826]]
ENST00000497105 [[9552488, 9552534], [9554306, 9554385], [9558754, 9558861], [9562930, 9563357]] [[9552488, 9552534], [9554306, 9554385], [9558754, 9558826]]
NR_134951 [[9545809, 9547034], [9547577, 9547727], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9560118, 9560229], [9562607, 9562789]] None
NM_001319068 [[9545809, 9547034], [9547577, 9547727], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558861], [9562607, 9562789]] [[9546962, 9547034], [9547577, 9547727], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558826]]
NM_001319066 [[9545809, 9547034], [9547577, 9547727], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558861], [9562996, 9563305]] [[9546962, 9547034], [9547577, 9547727], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558826]]
NM_001319067 [[9545809, 9547034], [9547577, 9547727], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558861], [9563094, 9563305]] [[9546962, 9547034], [9547577, 9547727], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558826]]
NR_134952 [[9545809, 9547034], [9548241, 9548334], [9552196, 9552534], [9554306, 9554385], [9558754, 9558861], [9563501, 9563698]] None
NM_004763 [[9545809, 9547034], [9547577, 9547727], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558861], [9563501, 9563698]] [[9546962, 9547034], [9547577, 9547727], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558826]]
NR_134954 [[9545809, 9547034], [9547577, 9547713], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558861], [9563501, 9563698]] None
NM_022334 [[9545809, 9547034], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558861], [9563501, 9563698]] [[9546962, 9547034], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9558754, 9558826]]
NR_134955 [[9545809, 9547034], [9547577, 9547727], [9548241, 9548330], [9552397, 9552534], [9554306, 9554385], [9558754, 9558861], [9563501, 9563698]] None
NR_134956 [[9545809, 9547034], [9547577, 9547727], [9548241, 9548334], [9552397, 9552534], [9558754, 9558861], [9563501, 9563698]] None
NM_001319070 [[9545809, 9547034], [9547577, 9547727], [9548241, 9548334], [9558754, 9558861], [9563501, 9563698]] [[9546962, 9547034], [9547577, 9547727], [9548241, 9548334], [9558754, 9558826]]
NR_134957 [[9545809, 9547034], [9547577, 9547727], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9563501, 9563698]] None
NR_134953 [[9545809, 9547034], [9548241, 9548334], [9552397, 9552534], [9554306, 9554385], [9563501, 9563698]] None
NM_001319069 [[9545809, 9547034], [9547577, 9547727], [9548241, 9548334], [9552397, 9552534], [9563501, 9563698]] [[9546962, 9547034], [9547577, 9547727], [9548241, 9548334], [9552397, 9552534], [9563501, 9563520]]
Promoter
Chrom Start End Description
chr2 9562702 9562734 CAGE_peak_5_at_ITGB1BP1_5end
chr2 9563272 9563314 CAGE_peak_2_at_ITGB1BP1_5end
chr2 9563319 9563355 CAGE_peak_3_at_ITGB1BP1_5end
chr2 9563545 9563563 CAGE_peak_4_at_ITGB1BP1_5end
chr2 9563575 9563681 CAGE_peak_1_at_ITGB1BP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I009255 9255359 9264041 1.11 [{'connected_gene': 'ITGB1BP1', 'score': 15.18}, {'connected_gene': 'ASAP2', 'score': 11.09}, {'connected_gene': 'CPSF3', 'score': 10.09}, {'connected_gene': 'ENSG00000271855', 'score': 6.39}, {'connected_gene': 'ADAM17', 'score': 5.06}, {'connected_gene': 'EIF1P7', 'score': 0.39}, {'connected_gene': 'GC02M009211', 'score': 0.34}]
chr2 GH02I009264 9264201 9264800 0.51 [{'connected_gene': 'ITGB1BP1', 'score': 15.76}, {'connected_gene': 'ASAP2', 'score': 11.08}, {'connected_gene': 'CPSF3', 'score': 10.1}, {'connected_gene': 'ADAM17', 'score': 4.56}, {'connected_gene': 'EIF1P7', 'score': 0.44}, {'connected_gene': 'GC02M009211', 'score': 0.31}]
chr2 GH02I009364 9364892 9365993 0.69 [{'connected_gene': 'ITGB1BP1', 'score': 10.97}, {'connected_gene': 'CPSF3', 'score': 10.97}, {'connected_gene': 'ASAP2', 'score': 10.41}, {'connected_gene': 'IAH1', 'score': 7.07}, {'connected_gene': 'GC02M009313', 'score': 0.23}]
chr2 GH02I009138 9138692 9138841 0.59 [{'connected_gene': 'ITGB1BP1', 'score': 11.02}, {'connected_gene': 'CPSF3', 'score': 11.02}, {'connected_gene': 'ASAP2', 'score': 10.87}, {'connected_gene': 'MBOAT2', 'score': 10.51}, {'connected_gene': 'ENSG00000240980', 'score': 0.77}, {'connected_gene': 'LOC105373417', 'score': 0.44}, {'connected_gene': 'LOC105373415', 'score': 0.39}]
chr2 GH02I009135 9135936 9136061 0.31 [{'connected_gene': 'ITGB1BP1', 'score': 11.02}, {'connected_gene': 'CPSF3', 'score': 11.02}, {'connected_gene': 'ASAP2', 'score': 10.86}, {'connected_gene': 'MBOAT2', 'score': 10.51}, {'connected_gene': 'LOC105373415', 'score': 0.44}, {'connected_gene': 'LOC105373417', 'score': 0.44}, {'connected_gene': 'ENSG00000240980', 'score': 0.44}]
chr2 GH02I009199 9199872 9202063 1.27 [{'connected_gene': 'ITGB1BP1', 'score': 10.2}, {'connected_gene': 'CPSF3', 'score': 10.2}, {'connected_gene': 'ASAP2', 'score': 5.32}, {'connected_gene': 'LOC100506317', 'score': 0.44}, {'connected_gene': 'LOC105373417', 'score': 0.22}]
chr2 GH02I009223 9223854 9224496 0.2 [{'connected_gene': 'ITGB1BP1', 'score': 10.3}, {'connected_gene': 'CPSF3', 'score': 10.3}, {'connected_gene': 'GC02M009211', 'score': 0.37}, {'connected_gene': 'ASAP2', 'score': 0.37}]
chr2 GH02I009392 9392970 9393461 0.69 [{'connected_gene': 'ITGB1BP1', 'score': 11.62}, {'connected_gene': 'CPSF3', 'score': 11.62}, {'connected_gene': 'ASAP2', 'score': 10.15}, {'connected_gene': 'GC02M009313', 'score': 0.18}]
chr2 GH02I009202 9202454 9203207 0.2 [{'connected_gene': 'ITGB1BP1', 'score': 10.2}, {'connected_gene': 'CPSF3', 'score': 10.2}, {'connected_gene': 'LOC100506317', 'score': 0.77}, {'connected_gene': 'LOC105373417', 'score': 0.22}]
chr2 GH02I008432 8432758 8433760 0.99 [{'connected_gene': 'ITGB1BP1', 'score': 4.96}, {'connected_gene': 'LINC00299', 'score': 0.25}, {'connected_gene': 'ENSG00000231435', 'score': 0.11}]
chr2 GH02I009216 9216600 9220289 0.62 [{'connected_gene': 'TAF1B', 'score': 13.32}, {'connected_gene': 'LOC101929882', 'score': 9.78}, {'connected_gene': 'ADAM17', 'score': 4.9}, {'connected_gene': 'ITGB1BP1', 'score': 4.32}, {'connected_gene': 'ASAP2', 'score': 0.39}, {'connected_gene': 'GC02M009211', 'score': 0.34}]
chr2 GH02I009267 9267864 9270725 0.2 [{'connected_gene': 'ASAP2', 'score': 18.44}, {'connected_gene': 'ITGB1BP1', 'score': 4.87}, {'connected_gene': 'ADAM17', 'score': 4.76}, {'connected_gene': 'IAH1', 'score': 4.32}, {'connected_gene': 'EIF1P7', 'score': 0.77}, {'connected_gene': 'GC02M009211', 'score': 0.31}]
chr2 GH02I009167 9167274 9169360 1.35 [{'connected_gene': 'ASAP2', 'score': 18.02}, {'connected_gene': 'ITGB1BP1', 'score': 10.38}, {'connected_gene': 'CPSF3', 'score': 10.38}, {'connected_gene': 'ADAM17', 'score': 5.59}, {'connected_gene': 'LOC105373417', 'score': 0.34}, {'connected_gene': 'LOC100506317', 'score': 0.28}]
chr2 GH02I009136 9136672 9138589 0.9 [{'connected_gene': 'ASAP2', 'score': 16.79}, {'connected_gene': 'ITGB1BP1', 'score': 11.02}, {'connected_gene': 'CPSF3', 'score': 11.02}, {'connected_gene': 'MBOAT2', 'score': 10.51}, {'connected_gene': 'LOC105373417', 'score': 0.44}, {'connected_gene': 'ENSG00000240980', 'score': 0.44}, {'connected_gene': 'LOC105373415', 'score': 0.39}]
chr2 GH02I009306 9306380 9312864 1.14 [{'connected_gene': 'ASAP2', 'score': 19.15}, {'connected_gene': 'ITGB1BP1', 'score': 10.33}, {'connected_gene': 'CPSF3', 'score': 10.33}, {'connected_gene': 'GC02M009313', 'score': 0.77}, {'connected_gene': 'EIF1P7', 'score': 0.28}]
chr2 GH02I009174 9174247 9175861 1.02 [{'connected_gene': 'ASAP2', 'score': 18.22}, {'connected_gene': 'ITGB1BP1', 'score': 10.37}, {'connected_gene': 'CPSF3', 'score': 10.37}, {'connected_gene': 'LOC105373417', 'score': 0.31}, {'connected_gene': 'LOC100506317', 'score': 0.29}]
chr2 GH02I009170 9169452 9169601 0.75 [{'connected_gene': 'ASAP2', 'score': 11.83}, {'connected_gene': 'ITGB1BP1', 'score': 10.38}, {'connected_gene': 'CPSF3', 'score': 10.38}, {'connected_gene': 'LOC105373417', 'score': 0.34}, {'connected_gene': 'LOC100506317', 'score': 0.28}]
chr2 GH02I009408 9408712 9409184 0.58 [{'connected_gene': 'ASAP2', 'score': 10.39}, {'connected_gene': 'ITGB1BP1', 'score': 0.39}, {'connected_gene': 'CPSF3', 'score': 0.39}, {'connected_gene': 'GC02M009313', 'score': 0.16}]
chr2 GH02I009409 9408388 9408521 0.4 [{'connected_gene': 'ASAP2', 'score': 10.39}, {'connected_gene': 'ITGB1BP1', 'score': 0.37}, {'connected_gene': 'CPSF3', 'score': 0.37}, {'connected_gene': 'GC02M009313', 'score': 0.16}]
chr2 GH02I009385 9385707 9388319 1.09 [{'connected_gene': 'ASAP2', 'score': 20.24}, {'connected_gene': 'ITGB1BP1', 'score': 17.15}, {'connected_gene': 'CPSF3', 'score': 11.61}, {'connected_gene': 'GC02M009313', 'score': 0.19}]
chr2 GH02I009281 9281177 9284216 0.52 [{'connected_gene': 'ASAP2', 'score': 21.44}, {'connected_gene': 'ITGB1BP1', 'score': 5.41}, {'connected_gene': 'EIF1P7', 'score': 0.39}, {'connected_gene': 'GC02M009313', 'score': 0.29}]
chr2 GH02I009233 9232312 9240090 1.66 [{'connected_gene': 'ASAP2', 'score': 15.29}, {'connected_gene': 'ADAM17', 'score': 5.02}, {'connected_gene': 'ITGB1BP1', 'score': 4.65}, {'connected_gene': 'YWHAQ', 'score': 1.95}, {'connected_gene': 'GC02M009211', 'score': 0.77}]
chr2 GH02I009246 9246783 9252722 1.45 [{'connected_gene': 'ASAP2', 'score': 6.06}, {'connected_gene': 'ENSG00000271855', 'score': 5.86}, {'connected_gene': 'ADAM17', 'score': 5.07}, {'connected_gene': 'ITGB1BP1', 'score': 5.04}, {'connected_gene': 'GC02M009211', 'score': 0.39}, {'connected_gene': 'EIF1P7', 'score': 0.34}]
chr2 GH02I009226 9226601 9232114 1.03 [{'connected_gene': 'ASAP2', 'score': 11.97}, {'connected_gene': 'ADAM17', 'score': 4.99}, {'connected_gene': 'ITGB1BP1', 'score': 4.44}, {'connected_gene': 'GC02M009211', 'score': 0.39}]
chr2 GH02I009416 9416152 9417358 0.72 [{'connected_gene': 'ASAP2', 'score': 10.39}, {'connected_gene': 'IAH1', 'score': 6.73}, {'connected_gene': 'ITGB1BP1', 'score': 0.44}, {'connected_gene': 'CPSF3', 'score': 0.44}, {'connected_gene': 'GC02M009313', 'score': 0.15}]
chr2 GH02I009284 9284747 9290122 1.47 [{'connected_gene': 'ASAP2', 'score': 24.66}, {'connected_gene': 'YWHAQ', 'score': 2.37}, {'connected_gene': 'ITGB1BP1', 'score': 1.45}, {'connected_gene': 'EIF1P7', 'score': 0.37}, {'connected_gene': 'GC02M009313', 'score': 0.31}]
chr2 GH02I009169 9169694 9171446 1.1 [{'connected_gene': 'ASAP2', 'score': 18.21}, {'connected_gene': 'LOC101929882', 'score': 13.42}, {'connected_gene': 'TAF1B', 'score': 12.08}, {'connected_gene': 'ITGB1BP1', 'score': 10.38}, {'connected_gene': 'CPSF3', 'score': 10.38}, {'connected_gene': 'ADAM17', 'score': 5.72}, {'connected_gene': 'LOC105373417', 'score': 0.34}, {'connected_gene': 'LOC100506317', 'score': 0.28}]
chr2 GH02I009501 9501249 9501458 0.29 [{'connected_gene': 'ADAM17', 'score': 10.43}, {'connected_gene': 'ITGB1BP1', 'score': 10.34}, {'connected_gene': 'CPSF3', 'score': 10.34}, {'connected_gene': 'IAH1', 'score': 7.37}, {'connected_gene': 'ENSG00000239300', 'score': 0.77}, {'connected_gene': 'PIR49256', 'score': 0.39}]
chr2 GH02I009421 9421806 9425235 2.28 [{'connected_gene': 'CPSF3', 'score': 562.2}, {'connected_gene': 'ITGB1BP1', 'score': 550.77}, {'connected_gene': 'TAF1B', 'score': 13.19}, {'connected_gene': 'ENSG00000239300', 'score': 10.86}, {'connected_gene': 'IAH1', 'score': 10.78}, {'connected_gene': 'ASAP2', 'score': 10.39}, {'connected_gene': 'ADAM17', 'score': 9.57}, {'connected_gene': 'GC02M009313', 'score': 0.14}]
chr2 GH02I009317 9317997 9319941 0.99 [{'connected_gene': 'CPSF3', 'score': 21.7}, {'connected_gene': 'ASAP2', 'score': 20.82}, {'connected_gene': 'KIDINS220', 'score': 11.1}, {'connected_gene': 'ENSG00000239300', 'score': 10.77}, {'connected_gene': 'ITGB1BP1', 'score': 10.27}, {'connected_gene': 'GC02M009313', 'score': 0.77}]
chr2 GH02I009439 9439772 9441028 0.38 [{'connected_gene': 'CPSF3', 'score': 10.23}, {'connected_gene': 'ADAM17', 'score': 10.19}, {'connected_gene': 'ITGB1BP1', 'score': 0.37}, {'connected_gene': 'IAH1', 'score': 0.29}]
chr2 GH02I009419 9419531 9421057 0.49 [{'connected_gene': 'IAH1', 'score': 8.3}, {'connected_gene': 'ITGB1BP1', 'score': 0.77}, {'connected_gene': 'CPSF3', 'score': 0.77}, {'connected_gene': 'GC02M009313', 'score': 0.14}]
chr2 GH02I009428 9428128 9429822 0.2 [{'connected_gene': 'IAH1', 'score': 10.81}, {'connected_gene': 'ADAM17', 'score': 10.68}, {'connected_gene': 'ITGB1BP1', 'score': 9.63}, {'connected_gene': 'ASAP2', 'score': 9.47}, {'connected_gene': 'CPSF3', 'score': 0.44}]
chr2 GH02I009271 9271401 9271800 0.91 [{'connected_gene': 'EIF1P7', 'score': 550.77}, {'connected_gene': 'ASAP2', 'score': 11.06}, {'connected_gene': 'ITGB1BP1', 'score': 5.63}, {'connected_gene': 'ADAM17', 'score': 4.52}, {'connected_gene': 'GC02M009211', 'score': 0.29}]
chr2 GH02I009221 9221916 9223241 0.38 [{'connected_gene': 'LOC101929882', 'score': 13.42}, {'connected_gene': 'TAF1B', 'score': 11.97}, {'connected_gene': 'ITGB1BP1', 'score': 10.29}, {'connected_gene': 'CPSF3', 'score': 10.29}, {'connected_gene': 'ENSG00000239300', 'score': 10.01}, {'connected_gene': 'ADAM17', 'score': 5.08}, {'connected_gene': 'GC02M009211', 'score': 0.37}, {'connected_gene': 'ASAP2', 'score': 0.37}]
chr2 GH02I009558 9558093 9559954 0.92 [{'connected_gene': 'ENSG00000271855', 'score': 9.9}, {'connected_gene': 'ITGB1BP1', 'score': 5.05}, {'connected_gene': 'LOC101929643', 'score': 0.44}]
chr2 GH02I009142 9142352 9143753 1.21 [{'connected_gene': 'ENSG00000240980', 'score': 550.77}, {'connected_gene': 'ASAP2', 'score': 18.44}, {'connected_gene': 'ITGB1BP1', 'score': 11.02}, {'connected_gene': 'CPSF3', 'score': 11.02}, {'connected_gene': 'MBOAT2', 'score': 10.83}, {'connected_gene': 'LOC105373417', 'score': 0.77}, {'connected_gene': 'LOC105373415', 'score': 0.37}]
chr2 GH02I009314 9314970 9316060 0.58 [{'connected_gene': 'GC02M009313', 'score': 550.77}, {'connected_gene': 'ASAP2', 'score': 18.05}, {'connected_gene': 'ITGB1BP1', 'score': 10.26}, {'connected_gene': 'CPSF3', 'score': 10.26}]

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