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
ENST00000253055 [[40697650, 40698620], [40704281, 40704462], [40710391, 40710540], [40711027, 40711203], [40711817, 40712064], [40715009, 40715126], [40718711, 40718883], [40718982, 40719095], [40719423, 40720128], [40720876, 40721482]] [[40697938, 40698620], [40704281, 40704462], [40710391, 40710540], [40711027, 40711203], [40711817, 40712064], [40715009, 40715126], [40718711, 40718883], [40718982, 40719095], [40719423, 40720128], [40720876, 40721199]]
ENST00000593906 [[40698151, 40698361], [40698544, 40698620], [40704281, 40704418], [40710391, 40710523]] None
ENST00000594951 [[40704303, 40704462], [40711027, 40711203], [40711817, 40712064], [40715009, 40715109]] [[40704303, 40704462], [40711027, 40711070]]
ENST00000593502 [[40704330, 40704418], [40711027, 40711203], [40715009, 40715126], [40718711, 40718883], [40718982, 40719168]] [[40704330, 40704418], [40711027, 40711203], [40715009, 40715114]]
ENST00000597986 [[40704349, 40704462], [40710391, 40710540], [40711027, 40711203], [40715009, 40715126], [40718711, 40718883], [40718982, 40719095], [40719423, 40720128], [40720876, 40721435]] [[40704349, 40704462], [40710391, 40710540], [40711027, 40711203], [40715009, 40715114]]
ENST00000601702 [[40710507, 40711203], [40711817, 40711908]] None
ENST00000594569 [[40711436, 40711506], [40711817, 40712309]] None
ENST00000594791 [[40715058, 40715126], [40718711, 40718883], [40718982, 40719641]] None
NM_002446 [[40697650, 40698620], [40704281, 40704462], [40710391, 40710540], [40711027, 40711203], [40711817, 40712064], [40715009, 40715126], [40718711, 40718883], [40718982, 40719095], [40719423, 40720128], [40720876, 40721482]] [[40697938, 40698620], [40704281, 40704462], [40710391, 40710540], [40711027, 40711203], [40711817, 40712064], [40715009, 40715126], [40718711, 40718883], [40718982, 40719095], [40719423, 40720128], [40720876, 40721199]]
Promoter
Chrom Start End Description
chr19 40697318 40697346 CAGE_peak_1_at_MAP3K10_5end
chr19 40697348 40697366 CAGE_peak_3_at_MAP3K10_5end
chr19 40697368 40697398 CAGE_peak_2_at_MAP3K10_5end
chr19 40697514 40697528 CAGE_peak_4_at_MAP3K10_5end
chr19 40697978 40698010 CAGE_peak_6_at_MAP3K10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I040360 40360086 40361908 1.1 [{'connected_gene': 'SNRPA', 'score': 31.34}, {'connected_gene': 'ENSG00000269843', 'score': 22.16}, {'connected_gene': 'HNRNPUL1', 'score': 21.27}, {'connected_gene': 'EID2B', 'score': 13.55}, {'connected_gene': 'AXL', 'score': 13.0}, {'connected_gene': 'SPTBN4', 'score': 12.95}, {'connected_gene': 'RPS16', 'score': 10.98}, {'connected_gene': 'FBL', 'score': 10.95}, {'connected_gene': 'ITPKC', 'score': 10.93}, {'connected_gene': 'PSMC4', 'score': 10.03}, {'connected_gene': 'LTBP4', 'score': 9.71}, {'connected_gene': 'MAP3K10', 'score': 7.76}, {'connected_gene': 'HIPK4', 'score': 6.28}, {'connected_gene': 'PLD3', 'score': 4.62}, {'connected_gene': 'ENSG00000279759', 'score': 0.44}, {'connected_gene': 'MIR6796', 'score': 0.44}]
chr19 GH19I040532 40531417 40531562 0.85 [{'connected_gene': 'SPTBN4', 'score': 21.93}, {'connected_gene': 'MAP3K10', 'score': 4.93}, {'connected_gene': 'ZNF780B', 'score': 3.14}, {'connected_gene': 'TTC9B', 'score': 3.08}, {'connected_gene': 'GC19M040397', 'score': 0.34}]
chr19 GH19I040190 40190074 40192401 2.28 [{'connected_gene': 'MAP3K10', 'score': 559.26}, {'connected_gene': 'ZNF780B', 'score': 45.96}, {'connected_gene': 'NUMBL', 'score': 37.89}, {'connected_gene': 'CYP2G1P', 'score': 31.54}, {'connected_gene': 'EID2B', 'score': 28.78}, {'connected_gene': 'SUPT5H', 'score': 18.22}, {'connected_gene': 'AKT2', 'score': 15.17}, {'connected_gene': 'PAF1', 'score': 13.11}, {'connected_gene': 'TTC9B', 'score': 12.48}, {'connected_gene': 'CNTD2', 'score': 12.17}, {'connected_gene': 'ENSG00000269843', 'score': 12.14}, {'connected_gene': 'ZNF546', 'score': 12.05}, {'connected_gene': 'SNRPA', 'score': 11.84}, {'connected_gene': 'ZNF780A', 'score': 10.88}, {'connected_gene': 'RN7SL566P', 'score': 10.68}, {'connected_gene': 'PSMC4', 'score': 10.67}, {'connected_gene': 'FBL', 'score': 10.47}, {'connected_gene': 'HIPK4', 'score': 10.42}, {'connected_gene': 'ENSG00000206925', 'score': 10.1}, {'connected_gene': 'C19orf47', 'score': 10.1}, {'connected_gene': 'PLD3', 'score': 10.1}, {'connected_gene': 'FCGBP', 'score': 5.32}, {'connected_gene': 'SERTAD1', 'score': 2.17}, {'connected_gene': 'GC19M039966', 'score': 0.31}]
chr19 GH19I040358 40358002 40359203 1.02 [{'connected_gene': 'MAP3K10', 'score': 7.95}, {'connected_gene': 'ENSG00000279759', 'score': 0.77}, {'connected_gene': 'MIR6796', 'score': 0.39}, {'connected_gene': 'PLD3', 'score': 0.39}]
chr19 GH19I040277 40277358 40287796 2.51 [{'connected_gene': 'AKT2', 'score': 572.34}, {'connected_gene': 'MIR641', 'score': 550.77}, {'connected_gene': 'ZNF780B', 'score': 54.73}, {'connected_gene': 'SUPT5H', 'score': 23.18}, {'connected_gene': 'COQ8B', 'score': 22.62}, {'connected_gene': 'SNRPA', 'score': 22.06}, {'connected_gene': 'NUMBL', 'score': 21.47}, {'connected_gene': 'ZNF780A', 'score': 20.58}, {'connected_gene': 'ENSG00000269843', 'score': 20.15}, {'connected_gene': 'MAP3K10', 'score': 19.98}, {'connected_gene': 'CYP2G1P', 'score': 15.86}, {'connected_gene': 'PRX', 'score': 12.5}, {'connected_gene': 'HNRNPUL1', 'score': 12.1}, {'connected_gene': 'PAF1', 'score': 11.99}, {'connected_gene': 'C19orf47', 'score': 10.99}, {'connected_gene': 'RN7SL566P', 'score': 10.51}, {'connected_gene': 'ZNF546', 'score': 10.39}, {'connected_gene': 'PSMC4', 'score': 10.03}, {'connected_gene': 'PLD3', 'score': 5.73}, {'connected_gene': 'GC19P040291', 'score': 0.77}, {'connected_gene': 'ENSG00000205041', 'score': 0.44}]
chr19 GH19I040265 40265815 40266670 1.16 [{'connected_gene': 'AKT2', 'score': 550.37}, {'connected_gene': 'ZNF780B', 'score': 28.78}, {'connected_gene': 'SUPT5H', 'score': 11.96}, {'connected_gene': 'NUMBL', 'score': 11.94}, {'connected_gene': 'ZNF780A', 'score': 10.72}, {'connected_gene': 'ZNF546', 'score': 10.35}, {'connected_gene': 'MAP3K10', 'score': 9.69}, {'connected_gene': 'ENSG00000205041', 'score': 0.44}, {'connected_gene': 'PIR38327', 'score': 0.29}]
chr19 GH19I040165 40165414 40165563 0.68 [{'connected_gene': 'TTC9B', 'score': 11.85}, {'connected_gene': 'CNTD2', 'score': 11.55}, {'connected_gene': 'GC19M039966', 'score': 0.77}, {'connected_gene': 'MAP3K10', 'score': 0.31}]
chr19 GH19I040164 40164374 40164472 0.31 [{'connected_gene': 'TTC9B', 'score': 11.85}, {'connected_gene': 'CNTD2', 'score': 11.55}, {'connected_gene': 'GC19M039966', 'score': 0.77}, {'connected_gene': 'MAP3K10', 'score': 0.31}]
chr19 GH19I040166 40165674 40165843 0.7 [{'connected_gene': 'TTC9B', 'score': 11.85}, {'connected_gene': 'CNTD2', 'score': 11.55}, {'connected_gene': 'ZNF780A', 'score': 11.34}, {'connected_gene': 'GC19M039966', 'score': 0.77}, {'connected_gene': 'MAP3K10', 'score': 0.31}]
chr19 GH19I040219 40219314 40220828 1.41 [{'connected_gene': 'TTC9B', 'score': 550.77}, {'connected_gene': 'ENSG00000269843', 'score': 62.93}, {'connected_gene': 'SNRPA', 'score': 57.57}, {'connected_gene': 'FBL', 'score': 23.3}, {'connected_gene': 'ITPKC', 'score': 19.09}, {'connected_gene': 'RPS16', 'score': 18.96}, {'connected_gene': 'ZNF780A', 'score': 18.68}, {'connected_gene': 'ZNF780B', 'score': 18.29}, {'connected_gene': 'PLEKHG2', 'score': 12.88}, {'connected_gene': 'AKT2', 'score': 12.2}, {'connected_gene': 'MAP3K10', 'score': 12.06}, {'connected_gene': 'RN7SL566P', 'score': 11.36}, {'connected_gene': 'ENSG00000268366', 'score': 10.83}, {'connected_gene': 'SERTAD3', 'score': 10.3}, {'connected_gene': 'PSMC4', 'score': 10.04}, {'connected_gene': 'COQ8B', 'score': 9.91}, {'connected_gene': 'PLD3', 'score': 9.86}, {'connected_gene': 'HIPK4', 'score': 4.8}, {'connected_gene': 'CNTD2', 'score': 0.44}]
chr19 GH19I040508 40508934 40509107 0.64 [{'connected_gene': 'TTC9B', 'score': 4.79}, {'connected_gene': 'SPTBN4', 'score': 3.97}, {'connected_gene': 'MAP3K10', 'score': 2.36}, {'connected_gene': 'GC19M040397', 'score': 0.26}]
chr19 GH19I040244 40244154 40250754 0.69 [{'connected_gene': 'EID2B', 'score': 17.21}, {'connected_gene': 'MED29', 'score': 15.3}, {'connected_gene': 'SPTBN4', 'score': 14.01}, {'connected_gene': 'PLD3', 'score': 10.57}, {'connected_gene': 'CYP2G1P', 'score': 10.13}, {'connected_gene': 'EID2', 'score': 10.08}, {'connected_gene': 'MAP3K10', 'score': 9.16}, {'connected_gene': 'C19orf47', 'score': 6.76}, {'connected_gene': 'ITPKC', 'score': 4.41}, {'connected_gene': 'PIR38327', 'score': 0.39}, {'connected_gene': 'ENSG00000205041', 'score': 0.31}, {'connected_gene': 'AKT2', 'score': 0.28}]
chr19 GH19I040273 40273168 40275552 1.3 [{'connected_gene': 'ENSG00000205041', 'score': 550.77}, {'connected_gene': 'MAP3K10', 'score': 20.64}, {'connected_gene': 'C19orf47', 'score': 8.86}, {'connected_gene': 'PLD3', 'score': 8.52}, {'connected_gene': 'SERTAD3', 'score': 4.95}, {'connected_gene': 'AKT2', 'score': 0.39}, {'connected_gene': 'PIR38327', 'score': 0.28}]
chr19 GH19I040209 40209214 40209363 0.84 [{'connected_gene': 'GC19P040210', 'score': 550.77}, {'connected_gene': 'MAP3K10', 'score': 0.37}]
chr19 GH19I040162 40162619 40164029 0.64 [{'connected_gene': 'GC19M039966', 'score': 550.77}, {'connected_gene': 'TTC9B', 'score': 11.84}, {'connected_gene': 'CNTD2', 'score': 11.55}, {'connected_gene': 'FCGBP', 'score': 9.81}, {'connected_gene': 'ZNF780A', 'score': 9.6}, {'connected_gene': 'MAP3K10', 'score': 5.36}]