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
ENST00000441310 [[190649106, 190649319], [190656515, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382], [190741997, 190742355]] [[190656535, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382], [190741997, 190742162]]
ENST00000418224 [[190649214, 190649319], [190656515, 190656667], [190660494, 190660677], [190682742, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382], [190741997, 190742353]] [[190682852, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382], [190741997, 190742162]]
ENST00000342075 [[190649214, 190649319], [190656515, 190656667], [190660494, 190660677], [190682742, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382], [190741997, 190742353]] [[190656535, 190656667], [190660494, 190660677], [190682742, 190682754]]
ENST00000409823 [[190649226, 190649319], [190656515, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682906], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382], [190741997, 190742162]] [[190656535, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682906], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382], [190741997, 190742162]]
ENST00000450931 [[190649238, 190649290], [190650071, 190650197], [190656515, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682906], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728700], [190732524, 190732655], [190738221, 190738382], [190741997, 190742353]] [[190656535, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682906], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728700], [190732524, 190732533]]
ENST00000421722 [[190649253, 190649319], [190656515, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682906], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190720554, 190720642], [190728468, 190728840]] None
ENST00000447232 [[190649269, 190649319], [190656515, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190732524, 190732655], [190738221, 190738382], [190741997, 190742355]] [[190656535, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190732524, 190732655], [190738221, 190738382], [190741997, 190742162]]
ENST00000447734 [[190649290, 190649319], [190656515, 190656667], [190682742, 190682906], [190708689, 190708806], [190717380, 190717488]] [[190656535, 190656667], [190682742, 190682754]]
ENST00000432292 [[190649290, 190649319], [190656515, 190656667], [190682742, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382], [190741997, 190742259]] [[190682852, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382], [190741997, 190742162]]
ENST00000424307 [[190656515, 190656667], [190670377, 190670480], [190682742, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728928]] [[190656535, 190656667], [190670377, 190670480], [190682742, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728928]]
ENST00000424059 [[190656535, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682906], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728700], [190738221, 190738254]] None
ENST00000409593 [[190682852, 190682906], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190732524, 190732655], [190738221, 190738382], [190741997, 190742162]] [[190682852, 190682906], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190732524, 190732655], [190738221, 190738382], [190741997, 190742162]]
ENST00000409985 [[190649175, 190649319], [190656515, 190656667], [190660494, 190660677], [190670377, 190671780]] [[190656535, 190656667], [190660494, 190660677], [190670377, 190670608]]
ENST00000446877 [[190649214, 190649496], [190650071, 190650197], [190656515, 190656667]] [[190656535, 190656667]]
ENST00000374826 [[190649233, 190649319], [190656515, 190656667], [190660494, 190660677], [190670377, 190670480], [190671148, 190671572]] [[190656535, 190656667], [190660494, 190660677], [190670377, 190670480], [190671148, 190671228]]
ENST00000424766 [[190649268, 190649496], [190656515, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682907]] [[190656535, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682907]]
ENST00000420421 [[190656425, 190656667], [190660494, 190660583]] [[190656535, 190656667], [190660494, 190660583]]
ENST00000483293 [[190722085, 190722131], [190728468, 190728954], [190732524, 190732655]] None
ENST00000452382 [[190722127, 190722230], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382]] [[190722210, 190722230], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382]]
NR_110332 [[190648810, 190649290], [190650071, 190650197], [190656515, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682906], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728700], [190732524, 190732655], [190738221, 190738382], [190741997, 190742355]] None
NM_001321048 [[190648810, 190649290], [190650071, 190650197], [190656515, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382], [190741997, 190742355]] [[190656535, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382], [190741997, 190742162]]
NM_001289409 [[190648810, 190649319], [190656515, 190656667], [190682742, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382], [190741997, 190742355]] [[190682852, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382], [190741997, 190742162]]
NM_001321046 [[190648810, 190649319], [190656515, 190656667], [190670377, 190670480], [190682742, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382], [190741997, 190742355]] [[190656535, 190656667], [190670377, 190670480], [190682742, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382], [190741997, 190742162]]
NM_001289408 [[190648810, 190649319], [190656515, 190656667], [190660494, 190660677], [190682742, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382], [190741997, 190742355]] [[190682852, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382], [190741997, 190742162]]
NM_001321044 [[190648810, 190649319], [190656515, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682906], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190732524, 190732655], [190738221, 190738382], [190741997, 190742355]] [[190656535, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682906], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190732524, 190732655], [190738221, 190738382], [190741997, 190742162]]
NM_001128143 [[190648810, 190649319], [190656515, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682906], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382], [190741997, 190742355]] [[190656535, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682906], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382], [190741997, 190742162]]
NM_001128144 [[190648810, 190649319], [190656515, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190732524, 190732655], [190738221, 190738382], [190741997, 190742355]] [[190656535, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190732524, 190732655], [190738221, 190738382], [190741997, 190742162]]
NM_000534 [[190648810, 190649319], [190656515, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382], [190741997, 190742355]] [[190656535, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382], [190741997, 190742162]]
NM_001321045 [[190648810, 190649319], [190650071, 190650197], [190656515, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382], [190741997, 190742355]] [[190656535, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382], [190741997, 190742162]]
NM_001321047 [[190648810, 190649496], [190656515, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382], [190741997, 190742355]] [[190656535, 190656667], [190660494, 190660677], [190670377, 190670480], [190682742, 190682906], [190708689, 190708806], [190717380, 190717503], [190718664, 190718808], [190718964, 190719854], [190728468, 190728954], [190732524, 190732655], [190738221, 190738382], [190741997, 190742162]]
NM_001321051 [[190648810, 190649319], [190656515, 190656667], [190660494, 190660677], [190670377, 190670480], [190671148, 190671572]] [[190656535, 190656667], [190660494, 190660677], [190670377, 190670480], [190671148, 190671228]]
NM_001321049 [[190648810, 190649319], [190656515, 190656667], [190660494, 190660677], [190670377, 190671775]] [[190656535, 190656667], [190660494, 190660677], [190670377, 190670608]]
Promoter
Chrom Start End Description
chr2 190649162 190649274 CAGE_peak_1_at_PMS1_5end
chr2 190722067 190722096 CAGE_peak_6_at_PMS1_5end
chr2 190722102 190722113 CAGE_peak_7_at_PMS1_5end
chr2 190722119 190722126 CAGE_peak_9_at_PMS1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I189835 189835582 189837706 1.1 [{'connected_gene': 'ORMDL1', 'score': 32.42}, {'connected_gene': 'C2orf88', 'score': 11.37}, {'connected_gene': 'LOC100421409', 'score': 0.39}, {'connected_gene': 'LOC105373796', 'score': 0.26}, {'connected_gene': 'PMS1', 'score': 0.23}]
chr2 GH02I189782 189782213 189785839 2.07 [{'connected_gene': 'ORMDL1', 'score': 606.31}, {'connected_gene': 'PMS1', 'score': 572.4}, {'connected_gene': 'ANKAR', 'score': 15.66}, {'connected_gene': 'HNRNPCP2', 'score': 13.53}, {'connected_gene': 'OSGEPL1-AS1', 'score': 12.33}, {'connected_gene': 'OSGEPL1', 'score': 11.29}, {'connected_gene': 'WDR75', 'score': 10.82}, {'connected_gene': 'NEMP2', 'score': 10.42}, {'connected_gene': 'ASNSD1', 'score': 5.76}, {'connected_gene': 'ENSG00000273240', 'score': 0.37}]
chr2 GH02I189799 189799230 189800184 0.46 [{'connected_gene': 'ORMDL1', 'score': 45.19}, {'connected_gene': 'PMS1', 'score': 0.37}, {'connected_gene': 'LOC100421409', 'score': 0.34}]
chr2 GH02I190179 190179662 190185644 2.05 [{'connected_gene': 'C2orf88', 'score': 550.06}, {'connected_gene': 'WDR75', 'score': 18.59}, {'connected_gene': 'PMS1', 'score': 16.14}, {'connected_gene': 'ANKAR', 'score': 14.93}, {'connected_gene': 'ORMDL1', 'score': 14.65}, {'connected_gene': 'NEMP2', 'score': 11.28}, {'connected_gene': 'LOC105373794', 'score': 0.26}, {'connected_gene': 'GC02M190201', 'score': 0.15}]
chr2 GH02I190214 190214400 190217678 0.85 [{'connected_gene': 'WDR75', 'score': 22.85}, {'connected_gene': 'C2orf88', 'score': 18.39}, {'connected_gene': 'HIBCH', 'score': 17.44}, {'connected_gene': 'ANKAR', 'score': 12.09}, {'connected_gene': 'PMS1', 'score': 10.9}, {'connected_gene': 'OSGEPL1', 'score': 10.6}, {'connected_gene': 'NAB1', 'score': 9.87}, {'connected_gene': 'GC02M190201', 'score': 0.2}, {'connected_gene': 'LOC105373794', 'score': 0.19}]
chr2 GH02I189440 189440256 189442601 2.06 [{'connected_gene': 'WDR75', 'score': 562.18}, {'connected_gene': 'LOC101927252', 'score': 550.77}, {'connected_gene': 'ORMDL1', 'score': 24.23}, {'connected_gene': 'HNRNPCP2', 'score': 13.45}, {'connected_gene': 'ANKAR', 'score': 11.27}, {'connected_gene': 'PMS1', 'score': 10.16}, {'connected_gene': 'COL5A2', 'score': 5.25}, {'connected_gene': 'LOC100420666', 'score': 4.83}]
chr2 GH02I189865 189865083 189865380 0.24 [{'connected_gene': 'ASNSD1', 'score': 13.55}, {'connected_gene': 'PMS1', 'score': 1.87}, {'connected_gene': 'OSGEPL1', 'score': 1.71}, {'connected_gene': 'LOC105373796', 'score': 0.39}, {'connected_gene': 'LOC100421409', 'score': 0.26}]
chr2 GH02I189870 189870801 189871200 0.2 [{'connected_gene': 'ASNSD1', 'score': 9.09}, {'connected_gene': 'LOC105373796', 'score': 0.44}, {'connected_gene': 'LOC100421409', 'score': 0.25}, {'connected_gene': 'PMS1', 'score': 0.17}]
chr2 GH02I189426 189426975 189427124 0.31 [{'connected_gene': 'PMS1', 'score': 12.6}, {'connected_gene': 'OSGEPL1-AS1', 'score': 12.04}, {'connected_gene': 'WDR75', 'score': 11.16}, {'connected_gene': 'OSGEPL1', 'score': 11.01}, {'connected_gene': 'LOC101927252', 'score': 0.39}, {'connected_gene': 'KRT18P19', 'score': 0.14}]
chr2 GH02I190537 190537915 190538064 0.52 [{'connected_gene': 'NAB1', 'score': 19.2}, {'connected_gene': 'PMS1', 'score': 12.57}, {'connected_gene': 'OSGEPL1-AS1', 'score': 12.01}, {'connected_gene': 'OSGEPL1', 'score': 10.98}, {'connected_gene': 'ENSG00000233654', 'score': 0.77}, {'connected_gene': 'NEMP2', 'score': 0.44}]
chr2 GH02I190318 190318257 190321086 2.09 [{'connected_gene': 'HIBCH', 'score': 598.4}, {'connected_gene': 'NEMP2', 'score': 15.26}, {'connected_gene': 'ORMDL1', 'score': 13.18}, {'connected_gene': 'WDR75', 'score': 11.44}, {'connected_gene': 'ANKAR', 'score': 11.22}, {'connected_gene': 'PMS1', 'score': 10.14}, {'connected_gene': 'INPP1', 'score': 0.34}, {'connected_gene': 'GC02M190201', 'score': 0.28}]
chr2 GH02I190136 190136435 190136564 0.76 [{'connected_gene': 'ANKAR', 'score': 13.48}, {'connected_gene': 'WDR75', 'score': 11.94}, {'connected_gene': 'PMS1', 'score': 9.71}, {'connected_gene': 'LOC105373794', 'score': 0.77}, {'connected_gene': 'MSTN', 'score': 0.19}, {'connected_gene': 'C2orf88', 'score': 0.07}]
chr2 GH02I189879 189879495 189879644 0.38 [{'connected_gene': 'LOC105373796', 'score': 550.77}, {'connected_gene': 'C2orf88', 'score': 550.77}, {'connected_gene': 'WDR75', 'score': 18.61}, {'connected_gene': 'PMS1', 'score': 16.24}, {'connected_gene': 'ANKAR', 'score': 14.98}, {'connected_gene': 'ORMDL1', 'score': 14.76}, {'connected_gene': 'NEMP2', 'score': 11.25}, {'connected_gene': 'LOC100287965', 'score': 0.28}]
chr2 GH02I189875 189875001 189875196 0.38 [{'connected_gene': 'LOC105373796', 'score': 0.77}, {'connected_gene': 'LOC100421409', 'score': 0.23}, {'connected_gene': 'PMS1', 'score': 0.16}]
chr2 GH02I189791 189791103 189792281 0.2 [{'connected_gene': 'OSGEPL1-AS1', 'score': 12.32}, {'connected_gene': 'OSGEPL1', 'score': 12.32}, {'connected_gene': 'ANKAR', 'score': 10.58}, {'connected_gene': 'SLC40A1', 'score': 3.92}, {'connected_gene': 'ORMDL1', 'score': 0.44}, {'connected_gene': 'PMS1', 'score': 0.44}, {'connected_gene': 'LOC100421409', 'score': 0.29}]
chr2 GH02I189819 189819515 189819664 0.38 [{'connected_gene': 'LOC100421409', 'score': 0.77}, {'connected_gene': 'ORMDL1', 'score': 0.28}, {'connected_gene': 'PMS1', 'score': 0.28}]
chr2 GH02I189822 189822435 189822584 0.57 [{'connected_gene': 'LOC100421409', 'score': 550.77}, {'connected_gene': 'PMS1', 'score': 0.28}, {'connected_gene': 'LOC105373796', 'score': 0.22}]

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