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
ENST00000519562 [[105351314, 105351693], [105352033, 105352090], [105360768, 105360902]] None
ENST00000517364 [[105351761, 105352090], [105360768, 105361013]] None
ENST00000518023 [[105352053, 105352090], [105352514, 105352668], [105360768, 105361159]] None
ENST00000297581 [[105352053, 105352090], [105360768, 105361809], [105367104, 105367413], [105368351, 105368917]] [[105360780, 105361809], [105367104, 105367413], [105368351, 105368426]]
ENST00000517991 [[105360768, 105361607], [105368351, 105368461]] [[105360780, 105361607], [105368351, 105368376]]
ENST00000518051 [[105361664, 105361809], [105368351, 105368786]] None
ENST00000520080 [[105367283, 105367413], [105368351, 105368917]] None
NM_001257317 [[105352023, 105352090], [105360768, 105361607], [105368351, 105368917]] [[105360780, 105361607], [105368351, 105368376]]
NM_030788 [[105352023, 105352090], [105360768, 105361809], [105367104, 105367413], [105368351, 105368917]] [[105360780, 105361809], [105367104, 105367413], [105368351, 105368426]]
Promoter
Chrom Start End Description
chr8 105351311 105351364 CAGE_peak_2_at_TM7SF4_5end
chr8 105352050 105352056 CAGE_peak_1_at_TM7SF4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I104272 104272611 104273884 0.56 [{'connected_gene': 'RIMS2', 'score': 4.72}, {'connected_gene': 'PIR34879', 'score': 0.39}, {'connected_gene': 'DCSTAMP', 'score': 0.2}]
chr8 GH08I104283 104283602 104284660 0.2 [{'connected_gene': 'RIMS2', 'score': 4.07}, {'connected_gene': 'PIR34879', 'score': 0.34}, {'connected_gene': 'DCSTAMP', 'score': 0.23}]
chr8 GH08I104277 104277805 104279567 0.97 [{'connected_gene': 'RIMS2', 'score': 5.23}, {'connected_gene': 'LRP12', 'score': 1.28}, {'connected_gene': 'PIR34879', 'score': 0.37}, {'connected_gene': 'DCSTAMP', 'score': 0.21}]
chr8 GH08I104175 104175055 104176662 0.75 [{'connected_gene': 'DCSTAMP', 'score': 4.81}, {'connected_gene': 'RIMS2', 'score': 4.23}, {'connected_gene': 'LOC105375688', 'score': 0.21}, {'connected_gene': 'PIR34879', 'score': 0.18}]
chr8 GH08I104323 104323213 104324410 0.73 [{'connected_gene': 'DCSTAMP', 'score': 7.54}, {'connected_gene': 'RIMS2', 'score': 4.79}, {'connected_gene': 'PIR34879', 'score': 0.21}]
chr8 GH08I104746 104746198 104748243 1.17 [{'connected_gene': 'DCSTAMP', 'score': 4.58}, {'connected_gene': 'LRP12', 'score': 1.81}, {'connected_gene': 'GC08P104735', 'score': 0.39}, {'connected_gene': 'GC08M104805', 'score': 0.19}, {'connected_gene': 'ZFPM2', 'score': 0.1}]
chr8 GH08I104669 104669058 104669541 0.96 [{'connected_gene': 'DCSTAMP', 'score': 22.41}, {'connected_gene': 'LRP12', 'score': 13.42}, {'connected_gene': 'ENSG00000283157', 'score': 0.29}, {'connected_gene': 'GC08P104611', 'score': 0.22}, {'connected_gene': 'ZFPM2', 'score': 0.18}]
chr8 GH08I104664 104664453 104666983 1.74 [{'connected_gene': 'DCSTAMP', 'score': 14.86}, {'connected_gene': 'LRP12', 'score': 13.98}, {'connected_gene': 'ENSG00000283157', 'score': 0.28}, {'connected_gene': 'GC08P104611', 'score': 0.23}, {'connected_gene': 'ZFPM2', 'score': 0.19}]
chr8 GH08I104359 104359795 104362798 1.18 [{'connected_gene': 'DCSTAMP', 'score': 60.04}, {'connected_gene': 'LRP12', 'score': 1.54}, {'connected_gene': 'GC08M104420', 'score': 0.22}, {'connected_gene': 'DPYS', 'score': 0.14}]
chr8 GH08I104336 104336616 104337480 0.99 [{'connected_gene': 'DCSTAMP', 'score': 35.71}, {'connected_gene': 'LRP12', 'score': 1.75}, {'connected_gene': 'PIR34879', 'score': 0.18}, {'connected_gene': 'DPYS', 'score': 0.12}]
chr8 GH08I104585 104585660 104586562 1.13 [{'connected_gene': 'DCSTAMP', 'score': 12.5}, {'connected_gene': 'LRP12', 'score': 7.46}, {'connected_gene': 'GC08P104568', 'score': 0.34}]
chr8 GH08I104437 104437471 104437726 0.56 [{'connected_gene': 'DCSTAMP', 'score': 15.84}, {'connected_gene': 'DPYS', 'score': 10.29}, {'connected_gene': 'LOC105375692', 'score': 0.44}, {'connected_gene': 'LOC105375691', 'score': 0.31}]
chr8 GH08I104329 104329513 104331079 1.14 [{'connected_gene': 'DCSTAMP', 'score': 14.18}, {'connected_gene': 'PIR34879', 'score': 0.19}, {'connected_gene': 'DPYS', 'score': 0.12}]
chr8 GH08I104367 104367401 104367600 0.31 [{'connected_gene': 'DCSTAMP', 'score': 11.76}, {'connected_gene': 'GC08M104420', 'score': 0.23}, {'connected_gene': 'DPYS', 'score': 0.15}]
chr8 GH08I104347 104347533 104347682 0.2 [{'connected_gene': 'DCSTAMP', 'score': 0.44}, {'connected_gene': 'GC08M104420', 'score': 0.19}, {'connected_gene': 'DPYS', 'score': 0.13}]
chr8 GH08I104342 104342601 104343200 0.63 [{'connected_gene': 'DCSTAMP', 'score': 0.77}, {'connected_gene': 'GC08M104420', 'score': 0.18}, {'connected_gene': 'DPYS', 'score': 0.13}]
chr8 GH08I104417 104417038 104418429 0.97 [{'connected_gene': 'DCSTAMP', 'score': 20.35}, {'connected_gene': 'GC08M104420', 'score': 0.77}, {'connected_gene': 'DPYS', 'score': 0.25}]
chr8 GH08I104338 104338401 104339600 0.69 [{'connected_gene': 'DCSTAMP', 'score': 580.14}, {'connected_gene': 'PIR34879', 'score': 0.18}, {'connected_gene': 'DPYS', 'score': 0.13}]
chr8 GH08I104339 104339713 104339842 0.7 [{'connected_gene': 'DCSTAMP', 'score': 580.15}, {'connected_gene': 'GC08M104420', 'score': 0.18}, {'connected_gene': 'DPYS', 'score': 0.13}]
chr8 GH08I104325 104325533 104326334 0.94 [{'connected_gene': 'DCSTAMP', 'score': 5.52}, {'connected_gene': 'LOC105375690', 'score': 4.32}, {'connected_gene': 'RIMS2', 'score': 3.99}, {'connected_gene': 'PIR34879', 'score': 0.2}]
chr8 GH08I104659 104659593 104659742 0.51 [{'connected_gene': 'LRP12', 'score': 11.6}, {'connected_gene': 'DCSTAMP', 'score': 4.08}, {'connected_gene': 'ENSG00000283157', 'score': 0.26}, {'connected_gene': 'GC08P104611', 'score': 0.25}, {'connected_gene': 'ZFPM2', 'score': 0.2}]
chr8 GH08I104616 104616485 104618760 1.42 [{'connected_gene': 'LRP12', 'score': 14.13}, {'connected_gene': 'DCSTAMP', 'score': 6.51}, {'connected_gene': 'GC08P104611', 'score': 0.44}, {'connected_gene': 'ZFPM2', 'score': 0.31}, {'connected_gene': 'ENSG00000283157', 'score': 0.17}]
chr8 GH08I104642 104642442 104644392 1.3 [{'connected_gene': 'LRP12', 'score': 13.25}, {'connected_gene': 'DCSTAMP', 'score': 7.44}, {'connected_gene': 'GC08P104611', 'score': 0.29}, {'connected_gene': 'ZFPM2', 'score': 0.23}, {'connected_gene': 'ENSG00000283157', 'score': 0.21}]
chr8 GH08I104352 104352595 104352630 0.31 [{'connected_gene': 'DPYS', 'score': 9.39}, {'connected_gene': 'DCSTAMP', 'score': 0.39}, {'connected_gene': 'GC08M104420', 'score': 0.2}]
chr8 GH08I104402 104400093 104400242 0.2 [{'connected_gene': 'GC08M104420', 'score': 0.34}, {'connected_gene': 'DCSTAMP', 'score': 0.21}, {'connected_gene': 'DPYS', 'score': 0.2}]
chr8 GH08I104401 104400553 104400702 0.52 [{'connected_gene': 'GC08M104420', 'score': 0.34}, {'connected_gene': 'DCSTAMP', 'score': 0.21}, {'connected_gene': 'DPYS', 'score': 0.2}]
chr8 GH08I104400 104400293 104400442 0.46 [{'connected_gene': 'GC08M104420', 'score': 0.34}, {'connected_gene': 'DCSTAMP', 'score': 0.21}, {'connected_gene': 'DPYS', 'score': 0.2}]
chr8 GH08I104284 104284813 104285002 0.2 [{'connected_gene': 'PIR34879', 'score': 0.31}, {'connected_gene': 'DCSTAMP', 'score': 0.23}]
chr8 GH08I104411 104411680 104412635 0.72 [{'connected_gene': 'GC08M104420', 'score': 0.44}, {'connected_gene': 'DPYS', 'score': 0.23}, {'connected_gene': 'DCSTAMP', 'score': 0.19}]