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
ENST00000495831 [[45002260, 45002494], [45002568, 45002723], [45003647, 45003761], [45004013, 45004118], [45004543, 45004688], [45005235, 45005459], [45005671, 45005879], [45006270, 45006437], [45007203, 45007336], [45007482, 45007557], [45009011, 45009082], [45009303, 45009474], [45009638, 45009753], [45010190, 45010336], [45010433, 45010658], [45011271, 45011388], [45011713, 45011824], [45014772, 45014826], [45015082, 45015248], [45016162, 45016256], [45018465, 45018668]] [[45016222, 45016256], [45018465, 45018560]]
ENST00000483585 [[45002260, 45002494], [45002568, 45002723], [45003647, 45003761], [45004013, 45004118], [45004543, 45004688], [45005235, 45005459], [45005671, 45006437], [45007203, 45007336], [45007482, 45007557], [45009011, 45009082], [45009303, 45009474], [45009638, 45009753], [45010190, 45010336], [45010433, 45010658], [45011271, 45011388], [45011713, 45011873], [45014772, 45014826], [45015082, 45015248], [45016162, 45016256], [45016461, 45016670], [45018465, 45018678]] None
ENST00000488554 [[45002264, 45002494], [45002568, 45002723], [45003647, 45003761], [45004013, 45004118], [45004543, 45004688], [45005235, 45005459], [45005671, 45005879], [45006270, 45006437], [45007203, 45007336], [45007482, 45007557], [45009011, 45009082], [45009303, 45009474], [45009638, 45009753], [45010190, 45010336], [45010433, 45010658], [45011271, 45011388], [45011713, 45014705]] None
ENST00000463516 [[45002264, 45002494], [45002568, 45003761], [45004013, 45004118], [45004543, 45004688], [45005235, 45005459], [45005671, 45006437], [45007203, 45007336], [45007482, 45007557], [45008518, 45009082], [45009303, 45009474], [45009638, 45009753], [45010190, 45010336], [45010433, 45010658], [45011271, 45011388], [45011713, 45011824], [45014772, 45014814]] None
ENST00000258787 [[45002264, 45002494], [45002568, 45002723], [45003647, 45003761], [45004013, 45004118], [45004543, 45004688], [45005235, 45005459], [45005671, 45005879], [45006270, 45006437], [45007203, 45007336], [45007482, 45007557], [45009011, 45009082], [45009303, 45009474], [45009638, 45009753], [45010190, 45010336], [45010433, 45010658], [45011271, 45011388], [45011713, 45011824], [45014772, 45014826], [45015082, 45015248], [45016162, 45016256], [45016461, 45016670], [45018465, 45018697]] [[45002337, 45002494], [45002568, 45002723], [45003647, 45003761], [45004013, 45004118], [45004543, 45004688], [45005235, 45005459], [45005671, 45005879], [45006270, 45006437], [45007203, 45007336], [45007482, 45007557], [45009011, 45009082], [45009303, 45009474], [45009638, 45009753], [45010190, 45010336], [45010433, 45010658], [45011271, 45011388], [45011713, 45011824], [45014772, 45014826], [45015082, 45015248], [45016162, 45016256], [45016461, 45016670], [45018465, 45018560]]
ENST00000480503 [[45008121, 45009474], [45009638, 45009753], [45010190, 45010336], [45010433, 45010658], [45011271, 45011388], [45011713, 45014826], [45015082, 45015248], [45016162, 45016256], [45016461, 45016670], [45018465, 45018599]] None
ENST00000464434 [[45008121, 45009082], [45009303, 45009474], [45009638, 45009753], [45010190, 45010336], [45010433, 45010658], [45011271, 45011388], [45011713, 45011824], [45014772, 45014826], [45015074, 45015248], [45016162, 45016256], [45016461, 45016670], [45018465, 45018687]] [[45011817, 45011824], [45014772, 45014826], [45015074, 45015248], [45016162, 45016256], [45016461, 45016670], [45018465, 45018560]]
NM_033054 [[45002259, 45002494], [45002568, 45002723], [45003647, 45003761], [45004013, 45004118], [45004543, 45004688], [45005235, 45005459], [45005671, 45005879], [45006270, 45006437], [45007203, 45007336], [45007482, 45007557], [45009011, 45009082], [45009303, 45009474], [45009638, 45009753], [45010190, 45010336], [45010433, 45010658], [45011271, 45011388], [45011713, 45011824], [45014772, 45014826], [45015082, 45015248], [45016162, 45016256], [45016461, 45016670], [45018465, 45018704]] [[45002337, 45002494], [45002568, 45002723], [45003647, 45003761], [45004013, 45004118], [45004543, 45004688], [45005235, 45005459], [45005671, 45005879], [45006270, 45006437], [45007203, 45007336], [45007482, 45007557], [45009011, 45009082], [45009303, 45009474], [45009638, 45009753], [45010190, 45010336], [45010433, 45010658], [45011271, 45011388], [45011713, 45011824], [45014772, 45014826], [45015082, 45015248], [45016162, 45016256], [45016461, 45016670], [45018465, 45018560]]
Promoter
Chrom Start End Description
chr7 45016548 45016567 CAGE_peak_5_at_MYO1G_5end
chr7 45016966 45016979 CAGE_peak_7_at_MYO1G_5end
chr7 45017005 45017042 CAGE_peak_4_at_MYO1G_5end
chr7 45017046 45017066 CAGE_peak_6_at_MYO1G_5end
chr7 45018571 45018589 CAGE_peak_3_at_MYO1G_5end
chr7 45018602 45018625 CAGE_peak_1_at_MYO1G_5end
chr7 45018686 45018710 CAGE_peak_2_at_MYO1G_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I044815 44815734 44815817 0.23 [{'connected_gene': 'H2AFV', 'score': 13.38}, {'connected_gene': 'LINC01952', 'score': 12.25}, {'connected_gene': 'ENSG00000228596', 'score': 12.17}, {'connected_gene': 'MYO1G', 'score': 10.66}, {'connected_gene': 'TBRG4', 'score': 1.3}, {'connected_gene': 'LOC105375260', 'score': 0.44}, {'connected_gene': 'GC07P044796', 'score': 0.37}, {'connected_gene': 'PPIA', 'score': 0.37}, {'connected_gene': 'GC07P044797', 'score': 0.37}]
chr7 GH07I044893 44893266 44896273 1.18 [{'connected_gene': 'H2AFV', 'score': 18.63}, {'connected_gene': 'LINC01952', 'score': 11.85}, {'connected_gene': 'MYO1G', 'score': 10.97}, {'connected_gene': 'ENSG00000228596', 'score': 10.72}, {'connected_gene': 'PPIA', 'score': 6.92}, {'connected_gene': 'PURB', 'score': 6.42}, {'connected_gene': 'ZMIZ2', 'score': 5.86}, {'connected_gene': 'OGDH', 'score': 1.75}, {'connected_gene': 'PIR53562', 'score': 0.77}, {'connected_gene': 'LOC105375262', 'score': 0.39}]
chr7 GH07I044806 44806186 44806570 0.33 [{'connected_gene': 'ZMIZ2', 'score': 18.57}, {'connected_gene': 'LINC01952', 'score': 11.95}, {'connected_gene': 'H2AFV', 'score': 11.95}, {'connected_gene': 'MYO1G', 'score': 11.16}, {'connected_gene': 'PPIA', 'score': 10.29}, {'connected_gene': 'DDX56', 'score': 1.83}, {'connected_gene': 'GC07P044796', 'score': 0.44}, {'connected_gene': 'GC07P044797', 'score': 0.44}, {'connected_gene': 'LOC105375260', 'score': 0.37}]
chr7 GH07I044804 44804322 44804471 0.49 [{'connected_gene': 'ZMIZ2', 'score': 18.57}, {'connected_gene': 'LINC01952', 'score': 11.95}, {'connected_gene': 'H2AFV', 'score': 11.95}, {'connected_gene': 'MYO1G', 'score': 11.16}, {'connected_gene': 'GC07P044796', 'score': 0.44}, {'connected_gene': 'PPIA', 'score': 0.44}, {'connected_gene': 'GC07P044797', 'score': 0.44}, {'connected_gene': 'LOC105375260', 'score': 0.37}]
chr7 GH07I044805 44805282 44805431 0.56 [{'connected_gene': 'ZMIZ2', 'score': 12.05}, {'connected_gene': 'LINC01952', 'score': 11.95}, {'connected_gene': 'H2AFV', 'score': 11.95}, {'connected_gene': 'MYO1G', 'score': 11.16}, {'connected_gene': 'GC07P044796', 'score': 0.44}, {'connected_gene': 'PPIA', 'score': 0.44}, {'connected_gene': 'GC07P044797', 'score': 0.44}, {'connected_gene': 'LOC105375260', 'score': 0.37}]
chr7 GH07I044807 44805122 44805251 0.6 [{'connected_gene': 'ZMIZ2', 'score': 12.05}, {'connected_gene': 'LINC01952', 'score': 11.95}, {'connected_gene': 'H2AFV', 'score': 11.95}, {'connected_gene': 'MYO1G', 'score': 11.16}, {'connected_gene': 'GC07P044796', 'score': 0.44}, {'connected_gene': 'PPIA', 'score': 0.44}, {'connected_gene': 'GC07P044797', 'score': 0.44}, {'connected_gene': 'LOC105375260', 'score': 0.37}]
chr7 GH07I045025 45025654 45030507 1.94 [{'connected_gene': 'CCM2', 'score': 586.23}, {'connected_gene': 'ENSG00000260997', 'score': 17.71}, {'connected_gene': 'MYO1G', 'score': 12.28}, {'connected_gene': 'ENSG00000228596', 'score': 9.85}, {'connected_gene': 'SNHG15', 'score': 9.02}, {'connected_gene': 'LINC00957', 'score': 5.7}, {'connected_gene': 'GC07M045025', 'score': 0.77}, {'connected_gene': 'LOC102723334', 'score': 0.31}]
chr7 GH07I045020 45020891 45022350 1.09 [{'connected_gene': 'CCM2', 'score': 13.29}, {'connected_gene': 'MYO1G', 'score': 12.29}, {'connected_gene': 'GC07M045025', 'score': 0.39}, {'connected_gene': 'LOC102723334', 'score': 0.34}]
chr7 GH07I044972 44972268 44972371 0.93 [{'connected_gene': 'CCM2', 'score': 11.19}, {'connected_gene': 'MYO1G', 'score': 0.44}, {'connected_gene': 'ENSG00000260997', 'score': 0.39}]
chr7 GH07I044973 44973422 44974424 0.9 [{'connected_gene': 'CCM2', 'score': 16.13}, {'connected_gene': 'MYO1G', 'score': 6.48}, {'connected_gene': 'ENSG00000260997', 'score': 0.39}]
chr7 GH07I044997 44997963 45002495 2.5 [{'connected_gene': 'CCM2', 'score': 563.25}, {'connected_gene': 'LOC102723334', 'score': 550.77}, {'connected_gene': 'SNORA5C', 'score': 17.04}, {'connected_gene': 'POLM', 'score': 16.72}, {'connected_gene': 'ENSG00000260997', 'score': 15.92}, {'connected_gene': 'DDX56', 'score': 13.88}, {'connected_gene': 'SNORA5A', 'score': 11.63}, {'connected_gene': 'SNORA5B', 'score': 11.3}, {'connected_gene': 'ENSG00000228434', 'score': 11.29}, {'connected_gene': 'SNHG15', 'score': 10.63}, {'connected_gene': 'TMED4', 'score': 10.44}, {'connected_gene': 'TBRG4', 'score': 10.21}, {'connected_gene': 'CICP20', 'score': 9.83}, {'connected_gene': 'PURB', 'score': 5.74}, {'connected_gene': 'MYO1G', 'score': 1.87}, {'connected_gene': 'OGDH', 'score': 1.61}, {'connected_gene': 'GC07M045025', 'score': 0.29}]
chr7 GH07I044975 44975655 44982189 2.41 [{'connected_gene': 'MYO1G', 'score': 570.47}, {'connected_gene': 'CCM2', 'score': 32.69}, {'connected_gene': 'ENSG00000260997', 'score': 18.12}, {'connected_gene': 'PURB', 'score': 11.97}, {'connected_gene': 'RAMP3', 'score': 10.82}, {'connected_gene': 'SNHG15', 'score': 10.43}, {'connected_gene': 'OGDH', 'score': 3.42}, {'connected_gene': 'ZMIZ2', 'score': 1.98}]
chr7 GH07I045402 45402856 45403130 0.79 [{'connected_gene': 'MYO1G', 'score': 5.09}, {'connected_gene': 'ELK1P1', 'score': 0.39}, {'connected_gene': 'GC07P045439', 'score': 0.28}]
chr7 GH07I044897 44897369 44897653 0.37 [{'connected_gene': 'MYO1G', 'score': 16.3}, {'connected_gene': 'LINC01952', 'score': 11.85}, {'connected_gene': 'H2AFV', 'score': 11.85}, {'connected_gene': 'ENSG00000228596', 'score': 10.72}, {'connected_gene': 'PURB', 'score': 9.52}, {'connected_gene': 'OGDH', 'score': 2.42}, {'connected_gene': 'LOC105375262', 'score': 0.44}, {'connected_gene': 'PIR53562', 'score': 0.44}]
chr7 GH07I044912 44912001 44913000 0.49 [{'connected_gene': 'PURB', 'score': 12.42}, {'connected_gene': 'H2AFV', 'score': 11.69}, {'connected_gene': 'LINC01952', 'score': 11.69}, {'connected_gene': 'MYO1G', 'score': 11.56}, {'connected_gene': 'PPIA', 'score': 4.66}, {'connected_gene': 'MRPS23P1', 'score': 0.44}, {'connected_gene': 'LOC105375262', 'score': 0.44}]
chr7 GH07I044613 44613873 44626909 1.64 [{'connected_gene': 'PURB', 'score': 25.43}, {'connected_gene': 'ZMIZ2', 'score': 16.61}, {'connected_gene': 'URGCP', 'score': 12.98}, {'connected_gene': 'ENSG00000228596', 'score': 11.51}, {'connected_gene': 'MYO1G', 'score': 10.35}, {'connected_gene': 'OGDH', 'score': 8.36}, {'connected_gene': 'DDX56', 'score': 7.92}, {'connected_gene': 'NUDCD3', 'score': 5.21}, {'connected_gene': 'TMED4', 'score': 1.75}, {'connected_gene': 'GC07M044657', 'score': 0.18}]
chr7 GH07I045192 45192362 45193200 0.66 [{'connected_gene': 'PURB', 'score': 13.87}, {'connected_gene': 'MYO1G', 'score': 7.33}, {'connected_gene': 'ZMIZ2', 'score': 1.28}, {'connected_gene': 'GC07P045166', 'score': 0.31}, {'connected_gene': 'GC07M045182', 'score': 0.18}, {'connected_gene': 'GC07P045063', 'score': 0.13}]
chr7 GH07I044733 44733402 44737546 1.27 [{'connected_gene': 'PURB', 'score': 16.11}, {'connected_gene': 'DDX56', 'score': 14.07}, {'connected_gene': 'MYO1G', 'score': 11.94}, {'connected_gene': 'ENSG00000228434', 'score': 10.33}, {'connected_gene': 'SPDYE1', 'score': 10.26}, {'connected_gene': 'POLM', 'score': 10.0}, {'connected_gene': 'ZMIZ2', 'score': 8.74}, {'connected_gene': 'OGDH', 'score': 5.61}, {'connected_gene': 'GC07P044747', 'score': 0.39}, {'connected_gene': 'GC07M044657', 'score': 0.29}]
chr7 GH07I044915 44915083 44915379 0.89 [{'connected_gene': 'PURB', 'score': 14.08}, {'connected_gene': 'LINC01952', 'score': 12.09}, {'connected_gene': 'H2AFV', 'score': 12.09}, {'connected_gene': 'ENSG00000228596', 'score': 10.93}, {'connected_gene': 'MYO1G', 'score': 1.84}, {'connected_gene': 'ZMIZ2', 'score': 1.79}, {'connected_gene': 'OGDH', 'score': 1.74}, {'connected_gene': 'DDX56', 'score': 1.61}, {'connected_gene': 'CCM2', 'score': 1.39}, {'connected_gene': 'MRPS23P1', 'score': 0.77}, {'connected_gene': 'LOC105375262', 'score': 0.39}]
chr7 GH07I044795 44795369 44799513 2.1 [{'connected_gene': 'PPIA', 'score': 559.23}, {'connected_gene': 'GC07P044796', 'score': 550.77}, {'connected_gene': 'LOC105375259', 'score': 550.77}, {'connected_gene': 'GC07P044797', 'score': 550.77}, {'connected_gene': 'SEPT7P2', 'score': 28.27}, {'connected_gene': 'SNORA5C', 'score': 27.21}, {'connected_gene': 'POLM', 'score': 25.78}, {'connected_gene': 'DDX56', 'score': 23.65}, {'connected_gene': 'SNORA5B', 'score': 21.07}, {'connected_gene': 'ENSG00000228434', 'score': 19.42}, {'connected_gene': 'ZMIZ2', 'score': 19.14}, {'connected_gene': 'TBRG4', 'score': 18.44}, {'connected_gene': 'SPDYE1', 'score': 18.33}, {'connected_gene': 'H2AFV', 'score': 18.19}, {'connected_gene': 'LINC01952', 'score': 11.8}, {'connected_gene': 'SNORA5A', 'score': 11.54}, {'connected_gene': 'URGCP', 'score': 10.78}, {'connected_gene': 'TMED4', 'score': 10.48}, {'connected_gene': 'MYO1G', 'score': 10.48}, {'connected_gene': 'SNHG15', 'score': 9.72}, {'connected_gene': 'LOC105375260', 'score': 0.34}]
chr7 GH07I044628 44628409 44641999 1.81 [{'connected_gene': 'DDX56', 'score': 31.05}, {'connected_gene': 'OGDH', 'score': 22.15}, {'connected_gene': 'H2AFV', 'score': 21.75}, {'connected_gene': 'SNORA5C', 'score': 21.7}, {'connected_gene': 'PURB', 'score': 19.81}, {'connected_gene': 'SNORA5B', 'score': 19.34}, {'connected_gene': 'NACAD', 'score': 18.78}, {'connected_gene': 'NUDCD3', 'score': 13.99}, {'connected_gene': 'TMED4', 'score': 12.56}, {'connected_gene': 'ENSG00000228434', 'score': 12.36}, {'connected_gene': 'SPDYE1', 'score': 12.25}, {'connected_gene': 'MYO1G', 'score': 11.73}, {'connected_gene': 'ENSG00000228596', 'score': 11.49}, {'connected_gene': 'SNHG15', 'score': 10.99}, {'connected_gene': 'LINC01952', 'score': 10.91}, {'connected_gene': 'POLM', 'score': 10.23}, {'connected_gene': 'GCK', 'score': 9.78}, {'connected_gene': 'PPIA', 'score': 4.98}, {'connected_gene': 'CCM2', 'score': 2.48}, {'connected_gene': 'ZMIZ2', 'score': 2.07}, {'connected_gene': 'GC07M044657', 'score': 0.2}]
chr7 GH07I044982 44982682 44982831 0.66 [{'connected_gene': 'RAMP3', 'score': 10.82}, {'connected_gene': 'MYO1G', 'score': 0.77}, {'connected_gene': 'GC07M044985', 'score': 0.77}, {'connected_gene': 'SNORA9', 'score': 0.77}]
chr7 GH07I045205 45205011 45205376 0.22 [{'connected_gene': 'RAMP3', 'score': 5.52}, {'connected_gene': 'MYO1G', 'score': 2.29}, {'connected_gene': 'PURB', 'score': 1.89}, {'connected_gene': 'GC07P045166', 'score': 0.28}, {'connected_gene': 'GC07M045182', 'score': 0.2}]
chr7 GH07I045032 45032968 45034397 0.63 [{'connected_gene': 'GC07M045025', 'score': 550.77}, {'connected_gene': 'CCM2', 'score': 16.87}, {'connected_gene': 'ENSG00000260997', 'score': 13.12}, {'connected_gene': 'MYO1G', 'score': 12.63}, {'connected_gene': 'ENSG00000228596', 'score': 9.85}, {'connected_gene': 'SNHG15', 'score': 9.01}, {'connected_gene': 'GC07P045063', 'score': 0.31}]
chr7 GH07I044880 44880217 44889973 2.29 [{'connected_gene': 'PIR54023', 'score': 550.77}, {'connected_gene': 'PURB', 'score': 550.77}, {'connected_gene': 'ENSG00000272768', 'score': 550.77}, {'connected_gene': 'H2AFV', 'score': 18.46}, {'connected_gene': 'LINC01952', 'score': 12.07}, {'connected_gene': 'SNHG15', 'score': 11.59}, {'connected_gene': 'MYO1G', 'score': 11.39}, {'connected_gene': 'ENSG00000228596', 'score': 11.05}, {'connected_gene': 'PPIA', 'score': 9.17}, {'connected_gene': 'ZMIZ2', 'score': 6.78}, {'connected_gene': 'MIR4657', 'score': 0.77}]
chr7 GH07I044961 44961916 44963864 0.76 [{'connected_gene': 'ENSG00000260997', 'score': 550.77}, {'connected_gene': 'PURB', 'score': 15.43}, {'connected_gene': 'SEPT7P2', 'score': 14.3}, {'connected_gene': 'DDX56', 'score': 12.17}, {'connected_gene': 'ENSG00000228596', 'score': 10.57}, {'connected_gene': 'TMED4', 'score': 10.35}, {'connected_gene': 'MYO1G', 'score': 5.06}]
chr7 GH07I044958 44958933 44960902 0.84 [{'connected_gene': 'ENSG00000260997', 'score': 570.97}, {'connected_gene': 'SNHG15', 'score': 7.45}, {'connected_gene': 'MYO1G', 'score': 5.55}, {'connected_gene': 'MRPS23P1', 'score': 0.26}]
chr7 GH07I045035 45035901 45037415 1.05 [{'connected_gene': 'ENSG00000260997', 'score': 16.73}, {'connected_gene': 'NACAD', 'score': 16.12}, {'connected_gene': 'MYO1G', 'score': 12.62}, {'connected_gene': 'CCM2', 'score': 12.19}, {'connected_gene': 'ENSG00000228596', 'score': 9.77}, {'connected_gene': 'SNHG15', 'score': 8.95}, {'connected_gene': 'GC07M045025', 'score': 0.77}, {'connected_gene': 'GC07P045063', 'score': 0.31}]
chr7 GH07I044890 44890526 44893186 0.62 [{'connected_gene': 'PIR53562', 'score': 550.77}, {'connected_gene': 'LINC01952', 'score': 11.87}, {'connected_gene': 'H2AFV', 'score': 11.87}, {'connected_gene': 'MYO1G', 'score': 10.96}, {'connected_gene': 'ENSG00000228596', 'score': 10.73}, {'connected_gene': 'ZMIZ2', 'score': 6.05}, {'connected_gene': 'DDX56', 'score': 5.75}, {'connected_gene': 'CCM2', 'score': 1.24}, {'connected_gene': 'LOC105375262', 'score': 0.39}]

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