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
ENST00000261844 [[52873517, 52874504], [52876941, 52877141], [52879347, 52879416], [52885774, 52885933], [52892323, 52892432], [52893282, 52893362], [52897329, 52897443], [52900764, 52902580], [52903326, 52903452], [52903771, 52903974], [52905869, 52906054], [52970202, 52970319], [52970768, 52970820]] [[52874350, 52874504], [52876941, 52877141], [52879347, 52879416], [52885774, 52885933], [52892323, 52892432], [52893282, 52893362], [52897329, 52897443], [52900764, 52902580], [52903326, 52903452], [52903771, 52903974], [52905869, 52906054], [52970202, 52970218]]
ENST00000534964 [[52873517, 52874504], [52876941, 52877141], [52879252, 52879416], [52885774, 52885933], [52892323, 52892432], [52893282, 52893362], [52897329, 52897443], [52900764, 52902580], [52903326, 52903452], [52903771, 52903974], [52905869, 52906054], [52970202, 52970319], [52970626, 52970956]] [[52879332, 52879416], [52885774, 52885933], [52892323, 52892432], [52893282, 52893362], [52897329, 52897443], [52900764, 52902580], [52903326, 52903452], [52903771, 52903974], [52905869, 52906054], [52970202, 52970218]]
ENST00000399202 [[52876939, 52877141], [52879347, 52879416], [52885774, 52885933], [52892323, 52892432], [52893282, 52893362], [52897329, 52897443], [52900764, 52902580], [52903326, 52903452], [52903771, 52903974], [52970202, 52970319], [52970900, 52970953]] [[52876939, 52877141], [52879347, 52879416], [52885774, 52885933], [52892323, 52892432], [52893282, 52893362], [52897329, 52897443], [52900764, 52902580], [52903326, 52903452], [52903771, 52903911]]
ENST00000562135 [[52903429, 52903452], [52903771, 52903974], [52905869, 52906054], [52970202, 52970319], [52970900, 52970953]] [[52903429, 52903452], [52903771, 52903974], [52905869, 52906054], [52970202, 52970218]]
ENST00000566768 [[52903797, 52903974], [52905869, 52906054], [52970202, 52970319], [52971472, 52971569]] [[52903797, 52903974], [52905869, 52906054], [52970202, 52970218]]
ENST00000561490 [[52903821, 52903974], [52905869, 52906054], [52970202, 52970319], [53001922, 53002014]] [[52903821, 52903974], [52905869, 52906054], [52970202, 52970218]]
ENST00000561543 [[52903890, 52903974], [52905869, 52906054], [52970202, 52970319], [52971024, 52971569]] [[52903890, 52903974], [52905869, 52906054], [52970202, 52970218]]
ENST00000568863 [[52903907, 52903974], [52905869, 52906054], [52970202, 52970418]] [[52903907, 52903974], [52905869, 52906054], [52970202, 52970218]]
ENST00000562351 [[52950326, 52950994], [52970202, 52970319], [52970626, 52970757]] None
ENST00000568871 [[52873513, 52874504], [52876941, 52877520]] None
ENST00000546305 [[52874049, 52874504], [52876941, 52877141], [52879347, 52879416], [52885774, 52885933], [52892323, 52892432], [52893282, 52893362], [52897329, 52897443], [52900764, 52902580], [52903326, 52903452], [52903771, 52903974], [52905869, 52906054], [52944066, 52944247]] [[52874350, 52874504], [52876941, 52877141], [52879347, 52879416], [52885774, 52885933], [52892323, 52892432], [52893282, 52893362], [52897329, 52897443], [52900764, 52902580], [52903326, 52903452], [52903771, 52903974], [52905869, 52906054], [52944066, 52944103]]
ENST00000568637 [[52874384, 52874504], [52876941, 52877141], [52885774, 52885933], [52892323, 52892432], [52893282, 52893361]] [[52874384, 52874504], [52876941, 52877141], [52885774, 52885933], [52892323, 52892432], [52893282, 52893361]]
ENST00000570204 [[52877101, 52877141], [52879347, 52879416], [52885774, 52885933], [52893282, 52893362], [52897329, 52897374]] [[52885920, 52885933], [52893282, 52893362], [52897329, 52897374]]
ENST00000566948 [[52878218, 52879416], [52885774, 52885933], [52893282, 52893362], [52897329, 52897443], [52900764, 52900793]] None
ENST00000568668 [[52885613, 52885933], [52892323, 52892432], [52893282, 52893362], [52897329, 52897388]] None
NR_104457 [[52873517, 52874504], [52876941, 52877141], [52879252, 52879416], [52885774, 52885933], [52892323, 52892432], [52893282, 52893362], [52897329, 52897443], [52900764, 52902580], [52903326, 52903452], [52903771, 52903974], [52905869, 52906054], [52970202, 52970319], [52970626, 52970831]] None
NM_019600 [[52873517, 52874504], [52876941, 52877141], [52879347, 52879416], [52885774, 52885933], [52892323, 52892432], [52893282, 52893362], [52897329, 52897443], [52900764, 52902580], [52903326, 52903452], [52903771, 52903974], [52905869, 52906054], [52970202, 52970319], [52970768, 52970831]] [[52874350, 52874504], [52876941, 52877141], [52879347, 52879416], [52885774, 52885933], [52892323, 52892432], [52893282, 52893362], [52897329, 52897443], [52900764, 52902580], [52903326, 52903452], [52903771, 52903974], [52905869, 52906054], [52970202, 52970218]]
NM_001286495 [[52873517, 52874504], [52876941, 52877141], [52879347, 52879416], [52885774, 52885933], [52892323, 52892432], [52893282, 52893362], [52897329, 52897443], [52900764, 52902580], [52903326, 52903452], [52903771, 52903974], [52905869, 52906054], [52944066, 52944247]] [[52874350, 52874504], [52876941, 52877141], [52879347, 52879416], [52885774, 52885933], [52892323, 52892432], [52893282, 52893362], [52897329, 52897443], [52900764, 52902580], [52903326, 52903452], [52903771, 52903974], [52905869, 52906054], [52944066, 52944103]]
Promoter
Chrom Start End Description
chr15 52944231 52944268 CAGE_peak_6_at_FAM214A_5end
chr15 52970928 52970960 CAGE_peak_1_at_FAM214A_5end
chr15 52971111 52971134 CAGE_peak_2_at_FAM214A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I052623 52623556 52628590 0.49 [{'connected_gene': 'FAM214A', 'score': 11.11}, {'connected_gene': 'ARPP19', 'score': 9.11}, {'connected_gene': 'ENSG00000259935', 'score': 5.15}, {'connected_gene': 'ENSG00000260618', 'score': 0.25}]
chr15 GH15I052651 52651109 52654653 2.11 [{'connected_gene': 'FAM214A', 'score': 561.8}, {'connected_gene': 'GNB5', 'score': 9.85}, {'connected_gene': 'MIR1266', 'score': 9.81}, {'connected_gene': 'ENSG00000259935', 'score': 8.03}, {'connected_gene': 'LOC105370821', 'score': 0.31}]
chr15 GH15I052676 52676454 52684562 2.51 [{'connected_gene': 'FAM214A', 'score': 567.18}, {'connected_gene': 'LOC105370821', 'score': 550.77}, {'connected_gene': 'ENSG00000260618', 'score': 16.22}, {'connected_gene': 'ENSG00000259935', 'score': 15.45}, {'connected_gene': 'ENSG00000259712', 'score': 10.59}, {'connected_gene': 'GNB5', 'score': 9.73}]
chr15 GH15I052708 52708642 52710623 1.03 [{'connected_gene': 'FAM214A', 'score': 550.77}, {'connected_gene': 'LOC105370821', 'score': 0.29}]
chr15 GH15I052615 52615727 52617601 0.38 [{'connected_gene': 'FAM214A', 'score': 11.09}, {'connected_gene': 'ENSG00000259935', 'score': 0.29}, {'connected_gene': 'ENSG00000260618', 'score': 0.28}]
chr15 GH15I052718 52718024 52718173 0.49 [{'connected_gene': 'FAM214A', 'score': 0.44}, {'connected_gene': 'GC15P052725', 'score': 0.44}]
chr15 GH15I052018 52018089 52023646 2.32 [{'connected_gene': 'MAPK6', 'score': 555.88}, {'connected_gene': 'ENSG00000259438', 'score': 550.77}, {'connected_gene': 'ENSG00000259935', 'score': 22.89}, {'connected_gene': 'ENSG00000259712', 'score': 20.81}, {'connected_gene': 'ENSG00000260618', 'score': 16.1}, {'connected_gene': 'BCL2L10', 'score': 12.47}, {'connected_gene': 'LYSMD2', 'score': 12.42}, {'connected_gene': 'FAM214A', 'score': 11.91}, {'connected_gene': 'DMXL2', 'score': 4.84}, {'connected_gene': 'ENSG00000259398', 'score': 0.39}, {'connected_gene': 'GC15P052002', 'score': 0.37}]
chr15 GH15I052231 52231236 52236468 1.38 [{'connected_gene': 'MYO5C', 'score': 22.07}, {'connected_gene': 'GNB5', 'score': 16.33}, {'connected_gene': 'MIR1266', 'score': 11.7}, {'connected_gene': 'TMOD3', 'score': 6.36}, {'connected_gene': 'FAM214A', 'score': 2.15}, {'connected_gene': 'LOC105370820', 'score': 0.44}, {'connected_gene': 'GC15M057316', 'score': 0.26}, {'connected_gene': 'GC15M056837', 'score': 0.26}]
chr15 GH15I051758 51758284 51760289 1.06 [{'connected_gene': 'LYSMD2', 'score': 22.89}, {'connected_gene': 'ENSG00000259712', 'score': 20.68}, {'connected_gene': 'ENSG00000260618', 'score': 16.1}, {'connected_gene': 'FAM214A', 'score': 11.9}, {'connected_gene': 'ENSG00000259935', 'score': 11.25}, {'connected_gene': 'SCG3', 'score': 11.01}, {'connected_gene': 'AP4E1', 'score': 10.46}, {'connected_gene': 'DMXL2', 'score': 4.18}, {'connected_gene': 'ENSG00000259377', 'score': 0.44}, {'connected_gene': 'TMOD2', 'score': 0.44}, {'connected_gene': 'GC15P051815', 'score': 0.22}]
chr15 GH15I051862 51862920 51865771 0.72 [{'connected_gene': 'LYSMD2', 'score': 27.86}, {'connected_gene': 'TMOD3', 'score': 21.79}, {'connected_gene': 'ENSG00000259935', 'score': 13.36}, {'connected_gene': 'ENSG00000260618', 'score': 13.19}, {'connected_gene': 'AP4E1', 'score': 11.33}, {'connected_gene': 'LOC100422556', 'score': 11.0}, {'connected_gene': 'FAM214A', 'score': 10.31}, {'connected_gene': 'ENSG00000259712', 'score': 9.93}, {'connected_gene': 'LOC100422490', 'score': 0.77}, {'connected_gene': 'GC15P051886', 'score': 0.34}]
chr15 GH15I052642 52642214 52643735 0.51 [{'connected_gene': 'ARPP19', 'score': 12.3}, {'connected_gene': 'FAM214A', 'score': 11.6}, {'connected_gene': 'ENSG00000259935', 'score': 6.11}, {'connected_gene': 'ENSG00000260618', 'score': 0.2}]
chr15 GH15I052665 52665756 52668652 0.52 [{'connected_gene': 'ARPP19', 'score': 12.26}, {'connected_gene': 'ENSG00000259935', 'score': 6.09}, {'connected_gene': 'LOC105370821', 'score': 0.39}, {'connected_gene': 'FAM214A', 'score': 0.26}]
chr15 GH15I052629 52629399 52632032 0.2 [{'connected_gene': 'GNB5', 'score': 10.49}, {'connected_gene': 'ARPP19', 'score': 7.07}, {'connected_gene': 'ENSG00000259935', 'score': 6.47}, {'connected_gene': 'ENSG00000260618', 'score': 0.23}, {'connected_gene': 'FAM214A', 'score': 0.18}]
chr15 GH15I052685 52685204 52685353 0.4 [{'connected_gene': 'LOC105370821', 'score': 0.44}, {'connected_gene': 'FAM214A', 'score': 0.34}]
chr15 GH15I052052 52052103 52053846 0.77 [{'connected_gene': 'ENSG00000260618', 'score': 16.1}, {'connected_gene': 'FAM214A', 'score': 11.91}, {'connected_gene': 'ENSG00000259935', 'score': 11.25}, {'connected_gene': 'ENSG00000259712', 'score': 10.81}, {'connected_gene': 'LYSMD2', 'score': 7.2}, {'connected_gene': 'ENSG00000259398', 'score': 0.37}, {'connected_gene': 'ENSG00000259178', 'score': 0.31}, {'connected_gene': 'GC15P052002', 'score': 0.23}, {'connected_gene': 'MAPK6', 'score': 0.15}]
chr15 GH15I052010 52010544 52012404 1.23 [{'connected_gene': 'ENSG00000259935', 'score': 13.43}, {'connected_gene': 'ENSG00000260618', 'score': 12.58}, {'connected_gene': 'FAM214A', 'score': 11.76}, {'connected_gene': 'ENSG00000259712', 'score': 11.3}, {'connected_gene': 'LEO1', 'score': 10.96}, {'connected_gene': 'GNB5', 'score': 10.17}, {'connected_gene': 'MYO5C', 'score': 10.03}, {'connected_gene': 'ENSG00000259438', 'score': 0.44}, {'connected_gene': 'GC15P052002', 'score': 0.44}, {'connected_gene': 'ENSG00000274528', 'score': 0.44}, {'connected_gene': 'MAPK6', 'score': 0.22}]
chr15 GH15I052606 52606966 52610588 0.38 [{'connected_gene': 'ENSG00000259935', 'score': 6.88}, {'connected_gene': 'ENSG00000260618', 'score': 0.29}, {'connected_gene': 'FAM214A', 'score': 0.15}]
chr15 GH15I052659 52659084 52659273 0.74 [{'connected_gene': 'ENSG00000259935', 'score': 0.44}, {'connected_gene': 'LOC105370821', 'score': 0.34}, {'connected_gene': 'FAM214A', 'score': 0.23}]
chr15 GH15I052657 52657444 52657593 0.58 [{'connected_gene': 'ENSG00000259935', 'score': 0.44}, {'connected_gene': 'LOC105370821', 'score': 0.34}, {'connected_gene': 'FAM214A', 'score': 0.23}]