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
ENST00000375807 [[91933420, 91933527], [91934566, 91934712], [91940341, 91940591], [91940811, 91940953], [91943574, 91943801], [91947822, 91947901], [91949436, 91949645], [91953372, 91953495], [91954778, 91954868], [91956261, 91956394], [91961796, 91961963], [91962993, 91963129], [91964690, 91964844], [91965546, 91965767], [91972325, 91972480], [91972913, 91973106], [91973635, 91974557]] [[91933491, 91933527], [91934566, 91934712], [91940341, 91940591], [91940811, 91940953], [91943574, 91943801], [91947822, 91947901], [91949436, 91949645], [91953372, 91953495], [91954778, 91954868], [91956261, 91956394], [91961796, 91961963], [91962993, 91963129], [91964690, 91964844], [91965546, 91965767], [91972325, 91972480], [91972913, 91973106], [91973635, 91973739]]
ENST00000339901 [[91933433, 91933527], [91934566, 91934712], [91940462, 91940591], [91940811, 91940953], [91943574, 91943801], [91947822, 91947901], [91949436, 91949645], [91953372, 91953495], [91954778, 91954868], [91956261, 91956394], [91961796, 91961963], [91962993, 91963129], [91964690, 91964844], [91965546, 91965767], [91972325, 91972480], [91972913, 91973106], [91973635, 91974557]] [[91934628, 91934712], [91940462, 91940591], [91940811, 91940953], [91943574, 91943801], [91947822, 91947901], [91949436, 91949645], [91953372, 91953495], [91954778, 91954868], [91956261, 91956394], [91961796, 91961963], [91962993, 91963129], [91964690, 91964844], [91965546, 91965767], [91972325, 91972480], [91972913, 91973106], [91973635, 91973739]]
ENST00000534113 [[91933765, 91933982], [91934566, 91934712], [91940341, 91940591], [91940811, 91940953], [91943574, 91943801], [91947822, 91947901], [91949436, 91949645], [91953372, 91953495], [91954778, 91954868], [91956261, 91956394], [91961796, 91961963], [91962993, 91963129], [91964690, 91964844], [91965546, 91965767], [91972325, 91972480], [91972913, 91973106], [91973635, 91974078]] [[91940363, 91940591], [91940811, 91940953], [91943574, 91943801], [91947822, 91947901], [91949436, 91949645], [91953372, 91953495], [91954778, 91954868], [91956261, 91956394], [91961796, 91961963], [91962993, 91963129], [91964690, 91964844], [91965546, 91965767], [91972325, 91972480], [91972913, 91973106], [91973635, 91973739]]
ENST00000470305 [[91937114, 91940591], [91940811, 91940953], [91943574, 91945360]] None
ENST00000425851 [[91940874, 91940953], [91943574, 91943801], [91947822, 91947901], [91949550, 91949645], [91953372, 91953495], [91954778, 91954868], [91956261, 91956394]] [[91940874, 91940953], [91943574, 91943801], [91947822, 91947901], [91949550, 91949645], [91953372, 91953495], [91954778, 91954868], [91956261, 91956394]]
ENST00000440898 [[91947502, 91947901], [91949550, 91949645], [91953372, 91953425]] [[91947868, 91947901], [91949550, 91949645], [91953372, 91953425]]
ENST00000477484 [[91947831, 91947901], [91948939, 91949070], [91949436, 91949645], [91953372, 91953495], [91954778, 91954862]] None
ENST00000498819 [[91963062, 91963129], [91964690, 91964844], [91965546, 91965767], [91972199, 91972480], [91972913, 91973044]] None
ENST00000496597 [[91971440, 91972480], [91972913, 91973068]] None
NM_001282689 [[91933387, 91933527], [91934566, 91934712], [91940462, 91940591], [91940811, 91940953], [91943574, 91943801], [91947822, 91947901], [91949436, 91949645], [91953372, 91953495], [91954778, 91954868], [91956261, 91956394], [91961796, 91961963], [91962993, 91963129], [91964690, 91964844], [91965546, 91965767], [91972325, 91972480], [91972913, 91973106], [91973635, 91974578]] [[91934628, 91934712], [91940462, 91940591], [91940811, 91940953], [91943574, 91943801], [91947822, 91947901], [91949436, 91949645], [91953372, 91953495], [91954778, 91954868], [91956261, 91956394], [91961796, 91961963], [91962993, 91963129], [91964690, 91964844], [91965546, 91965767], [91972325, 91972480], [91972913, 91973106], [91973635, 91973739]]
NM_001282688 [[91933387, 91933527], [91934566, 91934712], [91940341, 91940591], [91940814, 91940953], [91943574, 91943801], [91947822, 91947901], [91949436, 91949645], [91953372, 91953495], [91954778, 91954868], [91956261, 91956394], [91961796, 91961963], [91962993, 91963129], [91964690, 91964844], [91965546, 91965767], [91972325, 91972480], [91972913, 91973106], [91973635, 91974578]] [[91933491, 91933527], [91934566, 91934712], [91940341, 91940591], [91940814, 91940953], [91943574, 91943801], [91947822, 91947901], [91949436, 91949645], [91953372, 91953495], [91954778, 91954868], [91956261, 91956394], [91961796, 91961963], [91962993, 91963129], [91964690, 91964844], [91965546, 91965767], [91972325, 91972480], [91972913, 91973106], [91973635, 91973739]]
NM_024077 [[91933387, 91933527], [91934566, 91934712], [91940341, 91940591], [91940811, 91940953], [91943574, 91943801], [91947822, 91947901], [91949436, 91949645], [91953372, 91953495], [91954778, 91954868], [91956261, 91956394], [91961796, 91961963], [91962993, 91963129], [91964690, 91964844], [91965546, 91965767], [91972325, 91972480], [91972913, 91973106], [91973635, 91974578]] [[91933491, 91933527], [91934566, 91934712], [91940341, 91940591], [91940811, 91940953], [91943574, 91943801], [91947822, 91947901], [91949436, 91949645], [91953372, 91953495], [91954778, 91954868], [91956261, 91956394], [91961796, 91961963], [91962993, 91963129], [91964690, 91964844], [91965546, 91965767], [91972325, 91972480], [91972913, 91973106], [91973635, 91973739]]
NM_001282690 [[91933765, 91933982], [91934566, 91934712], [91940341, 91940591], [91940811, 91940953], [91943574, 91943801], [91947822, 91947901], [91949436, 91949645], [91953372, 91953495], [91954778, 91954868], [91956261, 91956394], [91961796, 91961963], [91962993, 91963129], [91964690, 91964844], [91965546, 91965767], [91972325, 91972480], [91972913, 91973106], [91973635, 91974578]] [[91940363, 91940591], [91940811, 91940953], [91943574, 91943801], [91947822, 91947901], [91949436, 91949645], [91953372, 91953495], [91954778, 91954868], [91956261, 91956394], [91961796, 91961963], [91962993, 91963129], [91964690, 91964844], [91965546, 91965767], [91972325, 91972480], [91972913, 91973106], [91973635, 91973739]]
Promoter
Chrom Start End Description
chr9 91933382 91933395 CAGE_peak_2_at_SECISBP2_5end
chr9 91933407 91933458 CAGE_peak_1_at_SECISBP2_5end
chr9 91933465 91933476 CAGE_peak_3_at_SECISBP2_5end
chr9 91933726 91933758 CAGE_peak_4_at_SECISBP2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I089379 89379202 89380288 0.97 [{'connected_gene': 'SECISBP2', 'score': 11.57}, {'connected_gene': 'PIR43063', 'score': 0.34}, {'connected_gene': 'PA2G4P6', 'score': 0.2}, {'connected_gene': 'SEMA4D', 'score': 0.13}]
chr9 GH09I089390 89390406 89391205 0.4 [{'connected_gene': 'SECISBP2', 'score': 5.0}, {'connected_gene': 'PIR43063', 'score': 0.28}, {'connected_gene': 'PA2G4P6', 'score': 0.22}, {'connected_gene': 'SEMA4D', 'score': 0.14}]
chr9 GH09I089380 89380884 89384760 0.38 [{'connected_gene': 'SECISBP2', 'score': 11.79}, {'connected_gene': 'CKS2', 'score': 5.02}, {'connected_gene': 'PIR43063', 'score': 0.31}, {'connected_gene': 'PA2G4P6', 'score': 0.2}, {'connected_gene': 'SEMA4D', 'score': 0.13}]
chr9 GH09I089659 89659618 89666096 1.26 [{'connected_gene': 'SECISBP2', 'score': 13.15}, {'connected_gene': 'GADD45G', 'score': 11.53}, {'connected_gene': 'LOC102724237', 'score': 0.39}, {'connected_gene': 'UNQ6494', 'score': 0.34}]
chr9 GH09I089922 89922209 89924602 0.84 [{'connected_gene': 'SECISBP2', 'score': 12.06}, {'connected_gene': 'GADD45G', 'score': 11.58}, {'connected_gene': 'LOC101927847', 'score': 0.25}, {'connected_gene': 'ENSG00000236507', 'score': 0.13}]
chr9 GH09I089555 89555414 89557200 1.38 [{'connected_gene': 'SECISBP2', 'score': 12.1}, {'connected_gene': 'LOC105376137', 'score': 0.31}, {'connected_gene': 'LOC105376139', 'score': 0.25}]
chr9 GH09I089399 89399807 89402056 1.29 [{'connected_gene': 'SECISBP2', 'score': 16.36}, {'connected_gene': 'SEMA4D', 'score': 5.81}, {'connected_gene': 'PA2G4P6', 'score': 0.25}, {'connected_gene': 'PIR43063', 'score': 0.25}]
chr9 GH09I089376 89376387 89378009 0.43 [{'connected_gene': 'SECISBP2', 'score': 11.59}, {'connected_gene': 'SEMA4D', 'score': 5.06}, {'connected_gene': 'PIR43063', 'score': 0.34}, {'connected_gene': 'PA2G4P6', 'score': 0.19}]
chr9 GH09I089518 89518345 89527800 1.53 [{'connected_gene': 'SECISBP2', 'score': 24.87}, {'connected_gene': 'SEMA4D', 'score': 18.41}, {'connected_gene': 'SHC3', 'score': 1.56}, {'connected_gene': 'LOC105376137', 'score': 0.77}]
chr9 GH09I089361 89361520 89364844 0.38 [{'connected_gene': 'SECISBP2', 'score': 6.64}, {'connected_gene': 'SEMA4D', 'score': 6.47}, {'connected_gene': 'CKS2', 'score': 5.28}, {'connected_gene': 'PIR43063', 'score': 0.44}, {'connected_gene': 'PA2G4P6', 'score': 0.17}]
chr9 GH09I089316 89316724 89320738 2.09 [{'connected_gene': 'SECISBP2', 'score': 582.59}, {'connected_gene': 'SEMA4D', 'score': 7.92}, {'connected_gene': 'CKS2', 'score': 5.48}, {'connected_gene': 'PIR43063', 'score': 0.28}]
chr9 GH09I089534 89534639 89539597 1.05 [{'connected_gene': 'SECISBP2', 'score': 12.11}, {'connected_gene': 'SEMA4D', 'score': 5.3}, {'connected_gene': 'LOC105376137', 'score': 0.44}, {'connected_gene': 'LOC105376139', 'score': 0.2}]
chr9 GH09I088370 88370486 88370595 0.56 [{'connected_gene': 'SECISBP2', 'score': 13.12}, {'connected_gene': 'GC09M088384', 'score': 0.37}, {'connected_gene': 'GC09P088354', 'score': 0.37}, {'connected_gene': 'GC09P088268', 'score': 0.15}]
chr9 GH09I089448 89448046 89449692 0.66 [{'connected_gene': 'PA2G4P6', 'score': 550.77}, {'connected_gene': 'SEMA4D', 'score': 12.76}, {'connected_gene': 'SECISBP2', 'score': 4.55}, {'connected_gene': 'PIR43063', 'score': 0.16}]
chr9 GH09I089175 89175909 89181345 2.48 [{'connected_gene': 'SHC3', 'score': 567.8}, {'connected_gene': 'SECISBP2', 'score': 15.76}, {'connected_gene': 'C9orf47', 'score': 2.91}, {'connected_gene': 'ENSG00000224945', 'score': 0.2}]
chr9 GH09I088923 88923095 88924630 1.17 [{'connected_gene': 'S1PR3', 'score': 2.91}, {'connected_gene': 'C9orf47', 'score': 2.31}, {'connected_gene': 'SECISBP2', 'score': 1.29}, {'connected_gene': 'PIR55815', 'score': 0.37}, {'connected_gene': 'PCNPP2', 'score': 0.25}]
chr9 GH09I088926 88926961 88927963 1.21 [{'connected_gene': 'S1PR3', 'score': 2.5}, {'connected_gene': 'C9orf47', 'score': 1.9}, {'connected_gene': 'SECISBP2', 'score': 1.28}, {'connected_gene': 'PIR55815', 'score': 0.34}, {'connected_gene': 'PCNPP2', 'score': 0.26}]
chr9 GH09I089340 89340187 89341742 0.59 [{'connected_gene': 'CKS2', 'score': 4.36}, {'connected_gene': 'PIR43063', 'score': 0.39}, {'connected_gene': 'SECISBP2', 'score': 0.34}]
chr9 GH09I089350 89350938 89352155 1.09 [{'connected_gene': 'CKS2', 'score': 5.31}, {'connected_gene': 'PIR43063', 'score': 0.77}, {'connected_gene': 'SECISBP2', 'score': 0.29}]
chr9 GH09I089344 89344960 89346771 0.31 [{'connected_gene': 'CKS2', 'score': 5.34}, {'connected_gene': 'PIR43063', 'score': 0.44}, {'connected_gene': 'SECISBP2', 'score': 0.31}]
chr9 GH09I089309 89309131 89315483 2.06 [{'connected_gene': 'CKS2', 'score': 566.17}, {'connected_gene': 'MIR3153', 'score': 550.77}, {'connected_gene': 'LOC105376136', 'score': 550.77}, {'connected_gene': 'GC09M089309', 'score': 550.77}, {'connected_gene': 'SECISBP2', 'score': 15.01}, {'connected_gene': 'SEMA4D', 'score': 6.29}]
chr9 GH09I090100 90099439 90099588 0.72 [{'connected_gene': 'GADD45G', 'score': 12.2}, {'connected_gene': 'SECISBP2', 'score': 12.06}, {'connected_gene': 'ENSG00000278382', 'score': 0.44}, {'connected_gene': 'IL6RP1', 'score': 0.37}]
chr9 GH09I089402 89402573 89404721 0.2 [{'connected_gene': 'SEMA4D', 'score': 19.9}, {'connected_gene': 'SECISBP2', 'score': 16.32}, {'connected_gene': 'PA2G4P6', 'score': 0.25}, {'connected_gene': 'PIR43063', 'score': 0.25}]
chr9 GH09I089433 89433736 89438357 1.15 [{'connected_gene': 'SEMA4D', 'score': 21.08}, {'connected_gene': 'SECISBP2', 'score': 4.34}, {'connected_gene': 'PA2G4P6', 'score': 0.39}, {'connected_gene': 'PIR43063', 'score': 0.18}]
chr9 GH09I089371 89371360 89376255 1.1 [{'connected_gene': 'SEMA4D', 'score': 22.66}, {'connected_gene': 'SECISBP2', 'score': 12.69}, {'connected_gene': 'PIR43063', 'score': 0.37}, {'connected_gene': 'PA2G4P6', 'score': 0.18}]
chr9 GH09I089386 89386824 89390352 1.23 [{'connected_gene': 'SEMA4D', 'score': 9.33}, {'connected_gene': 'SECISBP2', 'score': 5.01}, {'connected_gene': 'PIR43063', 'score': 0.29}, {'connected_gene': 'PA2G4P6', 'score': 0.21}]
chr9 GH09I089431 89431146 89431400 0.89 [{'connected_gene': 'SEMA4D', 'score': 12.11}, {'connected_gene': 'SECISBP2', 'score': 4.42}, {'connected_gene': 'PA2G4P6', 'score': 0.37}, {'connected_gene': 'PIR43063', 'score': 0.18}]
chr9 GH09I089405 89405151 89411875 1.18 [{'connected_gene': 'SEMA4D', 'score': 22.29}, {'connected_gene': 'SECISBP2', 'score': 14.57}, {'connected_gene': 'PA2G4P6', 'score': 0.26}, {'connected_gene': 'PIR43063', 'score': 0.23}]
chr9 GH09I089412 89412290 89413466 0.63 [{'connected_gene': 'SEMA4D', 'score': 9.47}, {'connected_gene': 'SECISBP2', 'score': 4.36}, {'connected_gene': 'PA2G4P6', 'score': 0.28}, {'connected_gene': 'PIR43063', 'score': 0.22}]
chr9 GH09I089432 89432000 89432401 0.4 [{'connected_gene': 'SEMA4D', 'score': 16.4}, {'connected_gene': 'SECISBP2', 'score': 4.49}, {'connected_gene': 'PA2G4P6', 'score': 0.37}, {'connected_gene': 'PIR43063', 'score': 0.18}]
chr9 GH09I089391 89391356 89395121 0.38 [{'connected_gene': 'SEMA4D', 'score': 17.21}, {'connected_gene': 'SECISBP2', 'score': 5.01}, {'connected_gene': 'PIR43063', 'score': 0.28}, {'connected_gene': 'PA2G4P6', 'score': 0.22}]
chr9 GH09I089385 89385720 89386086 0.46 [{'connected_gene': 'SEMA4D', 'score': 4.19}, {'connected_gene': 'SECISBP2', 'score': 2.58}, {'connected_gene': 'C9orf47', 'score': 1.35}, {'connected_gene': 'PIR43063', 'score': 0.29}, {'connected_gene': 'PA2G4P6', 'score': 0.21}]
chr9 GH09I089395 89395465 89399600 0.2 [{'connected_gene': 'SEMA4D', 'score': 20.42}, {'connected_gene': 'SECISBP2', 'score': 15.89}, {'connected_gene': 'CKS2', 'score': 5.06}, {'connected_gene': 'PIR43063', 'score': 0.26}, {'connected_gene': 'PA2G4P6', 'score': 0.23}]
chr9 GH09I089495 89495966 89500479 1.56 [{'connected_gene': 'SEMA4D', 'score': 564.02}, {'connected_gene': 'SECISBP2', 'score': 12.07}, {'connected_gene': 'LOC105376137', 'score': 0.31}]
chr9 GH09I089480 89480892 89485535 1.18 [{'connected_gene': 'SEMA4D', 'score': 12.86}, {'connected_gene': 'SECISBP2', 'score': 12.12}, {'connected_gene': 'GC09P089472', 'score': 0.39}]
chr9 GH09I089414 89413718 89416963 0.43 [{'connected_gene': 'SEMA4D', 'score': 22.48}, {'connected_gene': 'CKS2', 'score': 6.84}, {'connected_gene': 'SECISBP2', 'score': 4.32}, {'connected_gene': 'PA2G4P6', 'score': 0.29}, {'connected_gene': 'PIR43063', 'score': 0.21}]
chr9 GH09I089417 89417490 89430409 1.6 [{'connected_gene': 'SEMA4D', 'score': 24.03}, {'connected_gene': 'CKS2', 'score': 6.08}, {'connected_gene': 'SECISBP2', 'score': 4.48}, {'connected_gene': 'S1PR3', 'score': 1.5}, {'connected_gene': 'C9orf47', 'score': 1.3}, {'connected_gene': 'PA2G4P6', 'score': 0.31}, {'connected_gene': 'PIR43063', 'score': 0.2}]
chr9 GH09I089638 89638668 89640832 0.82 [{'connected_gene': 'UNQ6494', 'score': 556.51}, {'connected_gene': 'SEMA4D', 'score': 5.62}, {'connected_gene': 'SECISBP2', 'score': 1.47}, {'connected_gene': 'GC09M089629', 'score': 0.44}]
chr9 GH09I089360 89360566 89360715 0.4 [{'connected_gene': 'PIR43063', 'score': 0.44}, {'connected_gene': 'SECISBP2', 'score': 0.26}, {'connected_gene': 'PA2G4P6', 'score': 0.17}]
chr9 GH09I089357 89357571 89359354 1.09 [{'connected_gene': 'PIR43063', 'score': 0.77}, {'connected_gene': 'SECISBP2', 'score': 0.28}, {'connected_gene': 'PA2G4P6', 'score': 0.16}]
chr9 GH09I089359 89359747 89360293 0.4 [{'connected_gene': 'PIR43063', 'score': 0.77}, {'connected_gene': 'SECISBP2', 'score': 0.26}, {'connected_gene': 'PA2G4P6', 'score': 0.17}]
chr9 GH09I089354 89354166 89354315 0.8 [{'connected_gene': 'PIR43063', 'score': 550.77}, {'connected_gene': 'SECISBP2', 'score': 0.28}]
chr9 GH09I089036 89036001 89039371 0.86 [{'connected_gene': 'ENSG00000224945', 'score': 5.74}, {'connected_gene': 'SEMA4D', 'score': 5.34}, {'connected_gene': 'SECISBP2', 'score': 4.77}, {'connected_gene': 'SHC3', 'score': 2.85}, {'connected_gene': 'C9orf47', 'score': 1.57}, {'connected_gene': 'GC09M089006', 'score': 0.31}]

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