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
ENST00000209665 [[100333417, 100334329], [100336634, 100336773], [100340142, 100340278], [100341689, 100341950], [100348929, 100349146], [100349243, 100349331], [100349648, 100349787], [100350688, 100350790], [100356372, 100356667]] [[100334304, 100334329], [100336634, 100336773], [100340142, 100340278], [100341689, 100341950], [100348929, 100349146], [100349243, 100349331], [100349648, 100349787], [100350688, 100350790], [100356372, 100356426]]
ENST00000437033 [[100333417, 100334329], [100336634, 100336773], [100340142, 100340278], [100341689, 100341950], [100348929, 100349146], [100349243, 100349331], [100349648, 100349787], [100350688, 100350790], [100356372, 100356894]] [[100334304, 100334329], [100336634, 100336773], [100340142, 100340278], [100341689, 100341950], [100348929, 100349146], [100349243, 100349331], [100349648, 100349787], [100350688, 100350790], [100356372, 100356390]]
ENST00000482593 [[100334162, 100334329], [100336634, 100336773], [100340142, 100340278], [100341689, 100341950], [100348929, 100349146], [100349243, 100349331], [100349648, 100349787], [100350688, 100350790], [100353775, 100353888], [100356372, 100356430]] [[100334304, 100334329], [100336634, 100336773], [100340142, 100340278], [100341689, 100341950], [100348929, 100349146], [100349243, 100349331], [100349648, 100349736]]
ENST00000485660 [[100334170, 100334329], [100336634, 100337031]] None
ENST00000476959 [[100334194, 100334329], [100336634, 100336773], [100340142, 100340278], [100341689, 100341950], [100348929, 100349146], [100349243, 100349331], [100349648, 100349787], [100350688, 100350790], [100356183, 100356291]] [[100334304, 100334329], [100336634, 100336773], [100340142, 100340278], [100341689, 100341950], [100348929, 100349146], [100349243, 100349331], [100349648, 100349787], [100350688, 100350790], [100356183, 100356261]]
ENST00000474027 [[100348999, 100349146], [100349243, 100349331], [100349648, 100349787], [100350688, 100350790], [100351335, 100351448]] [[100348999, 100349146], [100349243, 100349331], [100349648, 100349736]]
NM_001166504 [[100333417, 100334329], [100336634, 100336773], [100340142, 100340278], [100341689, 100341950], [100348929, 100349146], [100349243, 100349331], [100349648, 100349787], [100350688, 100350790], [100356183, 100356291]] [[100334304, 100334329], [100336634, 100336773], [100340142, 100340278], [100341689, 100341950], [100348929, 100349146], [100349243, 100349331], [100349648, 100349787], [100350688, 100350790], [100356183, 100356261]]
NM_000673 [[100333417, 100334329], [100336634, 100336773], [100340142, 100340278], [100341689, 100341950], [100348929, 100349146], [100349243, 100349331], [100349648, 100349787], [100350688, 100350790], [100356372, 100356667]] [[100334304, 100334329], [100336634, 100336773], [100340142, 100340278], [100341689, 100341950], [100348929, 100349146], [100349243, 100349331], [100349648, 100349787], [100350688, 100350790], [100356372, 100356426]]
Promoter
Chrom Start End Description
chr4 100356431 100356446 CAGE_peak_3_at_ADH7_5end
chr4 100356453 100356521 CAGE_peak_1_at_ADH7_5end
chr4 100356522 100356531 CAGE_peak_5_at_ADH7_5end
chr4 100356551 100356570 CAGE_peak_2_at_ADH7_5end
chr4 100356844 100356855 CAGE_peak_4_at_ADH7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I099457 99457189 99460316 0.76 [{'connected_gene': 'TRMT10A', 'score': 4.46}, {'connected_gene': 'LOC100507053', 'score': 4.38}, {'connected_gene': 'ADH7', 'score': 0.34}, {'connected_gene': 'ENSG00000250300', 'score': 0.28}]
chr4 GH04I099446 99446721 99447663 0.88 [{'connected_gene': 'MTTP', 'score': 7.3}, {'connected_gene': 'ADH7', 'score': 0.39}, {'connected_gene': 'ENSG00000250300', 'score': 0.23}]
chr4 GH04I099860 99860583 99860891 0.6 [{'connected_gene': 'DAPP1', 'score': 15.82}, {'connected_gene': 'TRMT10A', 'score': 12.8}, {'connected_gene': 'MTTP', 'score': 10.94}, {'connected_gene': 'LAMTOR3', 'score': 9.88}, {'connected_gene': 'ADH7', 'score': 5.31}, {'connected_gene': 'ENSG00000279913', 'score': 0.37}]
chr4 GH04I098994 98994326 98999450 2.24 [{'connected_gene': 'METAP1', 'score': 550.77}, {'connected_gene': 'MIR3684', 'score': 550.77}, {'connected_gene': 'ENSG00000272777', 'score': 27.97}, {'connected_gene': 'LOC100507053', 'score': 20.32}, {'connected_gene': 'EIF4E', 'score': 16.14}, {'connected_gene': 'ADH5', 'score': 11.14}, {'connected_gene': 'RNU7-149P', 'score': 11.02}, {'connected_gene': 'ADH1A', 'score': 4.63}, {'connected_gene': 'ADH4', 'score': 4.5}, {'connected_gene': 'ENSG00000263923', 'score': 0.2}]
chr4 GH04I099147 99147827 99149698 0.38 [{'connected_gene': 'ADH4', 'score': 13.02}, {'connected_gene': 'ADH5', 'score': 12.52}, {'connected_gene': 'ADH6', 'score': 10.44}, {'connected_gene': 'LOC100507053', 'score': 9.68}, {'connected_gene': 'PIR42405', 'score': 0.26}]
chr4 GH04I099143 99143614 99145121 1.3 [{'connected_gene': 'ADH4', 'score': 567.47}, {'connected_gene': 'LOC100507053', 'score': 22.86}, {'connected_gene': 'ADH5', 'score': 12.61}, {'connected_gene': 'ADH1A', 'score': 10.47}, {'connected_gene': 'ADH6', 'score': 9.95}, {'connected_gene': 'PIR42405', 'score': 0.28}]
chr4 GH04I099151 99151648 99151733 0.31 [{'connected_gene': 'ADH4', 'score': 0.44}, {'connected_gene': 'PIR42405', 'score': 0.25}, {'connected_gene': 'LOC100507053', 'score': 0.21}]
chr4 GH04I099157 99157524 99157673 0.93 [{'connected_gene': 'ADH4', 'score': 550.77}, {'connected_gene': 'ENSG00000272777', 'score': 8.47}, {'connected_gene': 'PIR42405', 'score': 0.23}, {'connected_gene': 'LOC100507053', 'score': 0.2}]
chr4 GH04I099463 99463064 99463964 0.63 [{'connected_gene': 'ADH7', 'score': 0.31}, {'connected_gene': 'ENSG00000250300', 'score': 0.28}]
chr4 GH04I099204 99204879 99205977 0.8 [{'connected_gene': 'ADH6', 'score': 12.12}, {'connected_gene': 'PCNAP1', 'score': 11.22}, {'connected_gene': 'ADH4', 'score': 11.21}, {'connected_gene': 'LOC100507053', 'score': 11.09}, {'connected_gene': 'PCNAP2', 'score': 0.26}]
chr4 GH04I099152 99152184 99152333 0.31 [{'connected_gene': 'ADH6', 'score': 11.72}, {'connected_gene': 'ADH4', 'score': 0.44}, {'connected_gene': 'PIR42405', 'score': 0.25}, {'connected_gene': 'LOC100507053', 'score': 0.21}]
chr4 GH04I099180 99180273 99181654 0.31 [{'connected_gene': 'ADH6', 'score': 23.08}, {'connected_gene': 'LOC100507053', 'score': 19.42}, {'connected_gene': 'ADH4', 'score': 11.85}, {'connected_gene': 'ENSG00000272777', 'score': 8.08}, {'connected_gene': 'PCNAP2', 'score': 0.37}]
chr4 GH04I099086 99086027 99092535 2.01 [{'connected_gene': 'ADH5', 'score': 565.37}, {'connected_gene': 'LOC100507053', 'score': 556.57}, {'connected_gene': 'ENSG00000272777', 'score': 35.92}, {'connected_gene': 'ADH4', 'score': 13.65}, {'connected_gene': 'PIR42405', 'score': 0.37}]
chr4 GH04I099351 99351357 99351741 0.34 [{'connected_gene': 'ADH1C', 'score': 566.77}, {'connected_gene': 'ADH1B', 'score': 560.95}, {'connected_gene': 'ADH6', 'score': 24.38}, {'connected_gene': 'ADH1A', 'score': 18.68}, {'connected_gene': 'ADH4', 'score': 16.45}, {'connected_gene': 'PIR40463', 'score': 0.28}]
chr4 GH04I099381 99381054 99381238 0.39 [{'connected_gene': 'ADH1A', 'score': 36.62}, {'connected_gene': 'ADH4', 'score': 34.81}, {'connected_gene': 'ADH1C', 'score': 27.4}, {'connected_gene': 'ADH1B', 'score': 22.22}, {'connected_gene': 'ADH6', 'score': 14.39}, {'connected_gene': 'LOC100507053', 'score': 10.46}, {'connected_gene': 'LOC102723576', 'score': 0.34}]
chr4 GH04I099402 99402671 99406253 1.64 [{'connected_gene': 'LOC102723576', 'score': 550.77}, {'connected_gene': 'ADH4', 'score': 14.36}, {'connected_gene': 'ADH6', 'score': 11.33}, {'connected_gene': 'LOC100507053', 'score': 10.93}, {'connected_gene': 'PCNAP1', 'score': 9.94}, {'connected_gene': 'ADH5', 'score': 8.86}, {'connected_gene': 'ADH1A', 'score': 6.13}, {'connected_gene': 'ADH1B', 'score': 2.8}, {'connected_gene': 'ADH1C', 'score': 2.28}]
chr4 GH04I099408 99408464 99408613 0.46 [{'connected_gene': 'LOC102723576', 'score': 0.77}, {'connected_gene': 'ADH7', 'score': 0.31}]
chr4 GH04I099414 99414544 99414633 0.67 [{'connected_gene': 'LOC102723576', 'score': 0.44}, {'connected_gene': 'ADH7', 'score': 0.34}]
chr4 GH04I099412 99412661 99413853 0.59 [{'connected_gene': 'LOC100507053', 'score': 4.14}, {'connected_gene': 'LOC102723576', 'score': 0.44}, {'connected_gene': 'ADH7', 'score': 0.34}]
chr4 GH04I098585 98585474 98589697 0.2 [{'connected_gene': 'GC04P098586', 'score': 550.77}, {'connected_gene': 'ENSG00000251523', 'score': 10.68}, {'connected_gene': 'RAP1GDS1', 'score': 9.35}, {'connected_gene': 'ENSG00000214559', 'score': 9.35}, {'connected_gene': 'LOC105377342', 'score': 4.43}, {'connected_gene': 'ADH4', 'score': 3.94}, {'connected_gene': 'TSPAN5', 'score': 0.19}]
chr4 GH04I098580 98580217 98580796 0.2 [{'connected_gene': 'ENSG00000251523', 'score': 10.83}, {'connected_gene': 'ADH4', 'score': 3.93}, {'connected_gene': 'GC04P098586', 'score': 0.44}, {'connected_gene': 'GC04P098524', 'score': 0.22}, {'connected_gene': 'TSPAN5', 'score': 0.18}]
chr4 GH04I098544 98544851 98545363 0.2 [{'connected_gene': 'ENSG00000251523', 'score': 10.78}, {'connected_gene': 'ADH4', 'score': 3.93}, {'connected_gene': 'GC04P098524', 'score': 0.34}, {'connected_gene': 'GC04P098586', 'score': 0.26}, {'connected_gene': 'TSPAN5', 'score': 0.14}]
chr4 GH04I098545 98544258 98544683 0.2 [{'connected_gene': 'ENSG00000251523', 'score': 10.72}, {'connected_gene': 'ADH4', 'score': 3.93}, {'connected_gene': 'GC04P098524', 'score': 0.37}, {'connected_gene': 'GC04P098586', 'score': 0.26}, {'connected_gene': 'TSPAN5', 'score': 0.14}]