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
ENST00000373232 [[71962585, 71962942], [71964628, 71964671], [71966019, 71966089], [71968960, 71969046], [71969313, 71969441], [71973218, 71973345], [71974255, 71974342], [71977567, 71977687], [71978519, 71978573], [71990096, 71990155], [71993019, 71993183]] [[71962910, 71962942], [71964628, 71964671], [71966019, 71966089], [71968960, 71969046], [71969313, 71969441], [71973218, 71973345], [71974255, 71974342], [71977567, 71977687], [71978519, 71978573], [71990096, 71990155], [71993019, 71993083]]
ENST00000610026 [[71963344, 71966089], [71968960, 71969046], [71969313, 71970006]] None
ENST00000373230 [[71969400, 71969441], [71969950, 71970175], [71973218, 71973345], [71974255, 71974342], [71977567, 71977687], [71978519, 71978573], [71990096, 71990155], [71993019, 71993093]] [[71970149, 71970175], [71973218, 71973345], [71974255, 71974342], [71977567, 71977687], [71978519, 71978573], [71990096, 71990155], [71993019, 71993083]]
ENST00000608321 [[71970149, 71970175], [71973218, 71973345], [71974255, 71974342], [71977567, 71977687], [71978519, 71978573], [71990096, 71990155], [71993019, 71993160]] [[71970149, 71970175], [71973218, 71973345], [71974255, 71974342], [71977567, 71977687], [71978519, 71978573], [71990096, 71990155], [71993019, 71993083]]
ENST00000460755 [[71978200, 71978573], [71990096, 71990135]] None
ENST00000495346 [[71978534, 71978573], [71990096, 71990155], [71993483, 71993667]] None
NM_021129 [[71962585, 71962942], [71964628, 71964671], [71966019, 71966089], [71968960, 71969046], [71969313, 71969441], [71973218, 71973345], [71974255, 71974342], [71977567, 71977687], [71978519, 71978573], [71990096, 71990155], [71993019, 71993190]] [[71962910, 71962942], [71964628, 71964671], [71966019, 71966089], [71968960, 71969046], [71969313, 71969441], [71973218, 71973345], [71974255, 71974342], [71977567, 71977687], [71978519, 71978573], [71990096, 71990155], [71993019, 71993083]]
Promoter
Chrom Start End Description
chr10 71993114 71993128 CAGE_peak_3_at_PPA1_5end
chr10 71993138 71993163 CAGE_peak_1_at_PPA1_5end
chr10 71993176 71993193 CAGE_peak_2_at_PPA1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I070130 70130246 70133644 2.23 [{'connected_gene': 'AIFM2', 'score': 556.16}, {'connected_gene': 'SAR1A', 'score': 30.09}, {'connected_gene': 'PPA1', 'score': 14.38}, {'connected_gene': 'PIR50368', 'score': 0.37}]
chr10 GH10I070331 70331099 70332600 1.38 [{'connected_gene': 'NPFFR1', 'score': 12.27}, {'connected_gene': 'PPA1', 'score': 11.27}, {'connected_gene': 'CALM2P2', 'score': 10.22}, {'connected_gene': 'SAR1A', 'score': 10.22}, {'connected_gene': 'TYSND1', 'score': 10.21}, {'connected_gene': 'LRRC20', 'score': 0.23}]
chr10 GH10I070342 70342489 70344392 0.52 [{'connected_gene': 'NPFFR1', 'score': 11.49}, {'connected_gene': 'PPA1', 'score': 11.41}, {'connected_gene': 'CALM2P2', 'score': 10.32}, {'connected_gene': 'SAR1A', 'score': 10.32}, {'connected_gene': 'TYSND1', 'score': 10.11}, {'connected_gene': 'NODAL', 'score': 9.35}, {'connected_gene': 'LRRC20', 'score': 6.35}]
chr10 GH10I070337 70337245 70337394 0.2 [{'connected_gene': 'NPFFR1', 'score': 11.51}, {'connected_gene': 'PPA1', 'score': 11.04}, {'connected_gene': 'SAR1A', 'score': 9.77}, {'connected_gene': 'CALM2P2', 'score': 9.76}, {'connected_gene': 'TYSND1', 'score': 9.75}, {'connected_gene': 'LRRC20', 'score': 0.25}]
chr10 GH10I070338 70337485 70337634 0.2 [{'connected_gene': 'NPFFR1', 'score': 11.51}, {'connected_gene': 'PPA1', 'score': 11.04}, {'connected_gene': 'SAR1A', 'score': 9.77}, {'connected_gene': 'CALM2P2', 'score': 9.76}, {'connected_gene': 'TYSND1', 'score': 9.75}, {'connected_gene': 'LRRC20', 'score': 0.25}]
chr10 GH10I070168 70168788 70171535 2.04 [{'connected_gene': 'SAR1A', 'score': 563.02}, {'connected_gene': 'AIFM2', 'score': 27.56}, {'connected_gene': 'TYSND1', 'score': 12.44}, {'connected_gene': 'PPA1', 'score': 5.26}, {'connected_gene': 'CALM2P2', 'score': 0.44}]
chr10 GH10I070227 70227085 70228916 0.57 [{'connected_gene': 'LRRC20', 'score': 11.8}, {'connected_gene': 'CEP57L1P1', 'score': 11.79}, {'connected_gene': 'NPFFR1', 'score': 10.69}, {'connected_gene': 'PPA1', 'score': 8.1}, {'connected_gene': 'GC10M070217', 'score': 0.44}]
chr10 GH10I070353 70353721 70356577 1.03 [{'connected_gene': 'LRRC20', 'score': 13.19}, {'connected_gene': 'EIF4EBP2', 'score': 12.03}, {'connected_gene': 'NPFFR1', 'score': 11.15}, {'connected_gene': 'PPA1', 'score': 11.05}, {'connected_gene': 'UNC5B-AS1', 'score': 6.15}, {'connected_gene': 'ENSG00000280401', 'score': 5.86}]
chr10 GH10I070357 70357345 70359006 1.08 [{'connected_gene': 'LRRC20', 'score': 15.71}, {'connected_gene': 'EIF4EBP2', 'score': 12.03}, {'connected_gene': 'NPFFR1', 'score': 11.15}, {'connected_gene': 'PPA1', 'score': 11.05}, {'connected_gene': 'NODAL', 'score': 6.86}, {'connected_gene': 'UNC5B-AS1', 'score': 6.17}]
chr10 GH10I070255 70255585 70256588 0.62 [{'connected_gene': 'PPA1', 'score': 39.17}, {'connected_gene': 'AIFM2', 'score': 15.37}, {'connected_gene': 'NPFFR1', 'score': 0.31}]
chr10 GH10I070190 70190137 70194529 0.96 [{'connected_gene': 'PPA1', 'score': 62.41}, {'connected_gene': 'AIFM2', 'score': 16.33}, {'connected_gene': 'SAR1A', 'score': 12.15}, {'connected_gene': 'CALM2P2', 'score': 12.12}, {'connected_gene': 'TYSND1', 'score': 12.06}, {'connected_gene': 'RPS25P9', 'score': 0.44}]
chr10 GH10I070231 70231683 70235779 2.28 [{'connected_gene': 'PPA1', 'score': 612.3}, {'connected_gene': 'AIFM2', 'score': 14.02}, {'connected_gene': 'SAR1A', 'score': 12.52}, {'connected_gene': 'NPFFR1', 'score': 11.13}, {'connected_gene': 'GC10M070217', 'score': 0.37}]
chr10 GH10I070274 70274577 70275147 0.2 [{'connected_gene': 'PPA1', 'score': 11.84}, {'connected_gene': 'AIFM2', 'score': 9.8}, {'connected_gene': 'NODAL', 'score': 9.43}, {'connected_gene': 'NPFFR1', 'score': 0.44}]
chr10 GH10I070138 70137805 70138944 0.63 [{'connected_gene': 'PPA1', 'score': 39.31}, {'connected_gene': 'AIFM2', 'score': 18.08}, {'connected_gene': 'PIR42845', 'score': 0.44}, {'connected_gene': 'TYSND1', 'score': 0.44}]
chr10 GH10I070258 70258088 70259514 0.65 [{'connected_gene': 'PPA1', 'score': 13.19}, {'connected_gene': 'NPFFR1', 'score': 12.04}, {'connected_gene': 'SAR1A', 'score': 10.27}, {'connected_gene': 'CALM2P2', 'score': 10.26}, {'connected_gene': 'TYSND1', 'score': 10.24}]
chr10 GH10I070322 70322554 70326627 1.57 [{'connected_gene': 'PPA1', 'score': 16.49}, {'connected_gene': 'NPFFR1', 'score': 12.47}, {'connected_gene': 'NODAL', 'score': 9.83}, {'connected_gene': 'LRRC20', 'score': 6.48}]
chr10 GH10I070257 70257925 70258074 0.2 [{'connected_gene': 'PPA1', 'score': 5.7}, {'connected_gene': 'NPFFR1', 'score': 0.31}]
chr10 GH10I070137 70137432 70137494 0.84 [{'connected_gene': 'PPA1', 'score': 8.25}, {'connected_gene': 'SAR1A', 'score': 6.4}, {'connected_gene': 'AIFM2', 'score': 0.77}, {'connected_gene': 'PIR42845', 'score': 0.44}]
chr10 GH10I070221 70221228 70223422 1.02 [{'connected_gene': 'PPA1', 'score': 58.75}, {'connected_gene': 'SAR1A', 'score': 23.99}, {'connected_gene': 'CEP57L1P1', 'score': 11.86}, {'connected_gene': 'LRRC20', 'score': 11.86}, {'connected_gene': 'CALM2P2', 'score': 11.45}, {'connected_gene': 'NPFFR1', 'score': 11.18}, {'connected_gene': 'TYSND1', 'score': 11.13}, {'connected_gene': 'GC10M070217', 'score': 0.77}]
chr10 GH10I070266 70266478 70268239 1.28 [{'connected_gene': 'PPA1', 'score': 19.86}, {'connected_gene': 'LRRC20', 'score': 11.16}, {'connected_gene': 'CEP57L1P1', 'score': 11.16}, {'connected_gene': 'AIFM2', 'score': 9.04}, {'connected_gene': 'NPFFR1', 'score': 0.37}]
chr10 GH10I070272 70272425 70273411 0.81 [{'connected_gene': 'PPA1', 'score': 11.97}, {'connected_gene': 'LRRC20', 'score': 11.18}, {'connected_gene': 'CEP57L1P1', 'score': 11.16}, {'connected_gene': 'NPFFR1', 'score': 0.39}]
chr10 GH10I070295 70295645 70297553 1.02 [{'connected_gene': 'PPA1', 'score': 11.53}, {'connected_gene': 'EIF4EBP2', 'score': 10.77}, {'connected_gene': 'NPFFR1', 'score': 6.2}, {'connected_gene': 'LRRC20', 'score': 0.17}]
chr10 GH10I070265 70265185 70265374 0.57 [{'connected_gene': 'PPA1', 'score': 12.62}, {'connected_gene': 'EIF4EBP2', 'score': 11.26}, {'connected_gene': 'NPFFR1', 'score': 0.37}]
chr10 GH10I069863 69863118 69865582 0.94 [{'connected_gene': 'FAM241B', 'score': 10.06}, {'connected_gene': 'PPA1', 'score': 5.23}, {'connected_gene': 'LOC105378347', 'score': 0.26}, {'connected_gene': 'COL13A1', 'score': 0.21}, {'connected_gene': 'LOC102723350', 'score': 0.1}]
chr10 GH10I070352 70352061 70353298 1.05 [{'connected_gene': 'EIF4EBP2', 'score': 12.01}, {'connected_gene': 'NPFFR1', 'score': 11.16}, {'connected_gene': 'PPA1', 'score': 11.05}, {'connected_gene': 'NODAL', 'score': 5.6}, {'connected_gene': 'LRRC20', 'score': 0.31}]
chr10 GH10I070161 70161922 70164266 0.91 [{'connected_gene': 'GC10M070161', 'score': 550.77}, {'connected_gene': 'CALM2P2', 'score': 550.77}, {'connected_gene': 'AIFM2', 'score': 17.94}, {'connected_gene': 'PPA1', 'score': 7.35}, {'connected_gene': 'SAR1A', 'score': 0.44}]
chr10 GH10I070144 70144884 70147981 2.26 [{'connected_gene': 'PIR42845', 'score': 550.77}, {'connected_gene': 'PIR38078', 'score': 550.77}, {'connected_gene': 'GC10M070148', 'score': 550.77}, {'connected_gene': 'TYSND1', 'score': 550.77}, {'connected_gene': 'PPA1', 'score': 23.73}, {'connected_gene': 'AIFM2', 'score': 18.04}, {'connected_gene': 'SAR1A', 'score': 13.0}]