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
ENST00000578229 [[77018895, 77019170], [77040036, 77040205], [77042636, 77042776], [77043619, 77044329]] [[77042727, 77042776], [77043619, 77044170]]
ENST00000580454 [[77019052, 77019170], [77020317, 77020576], [77040036, 77040205], [77042636, 77042776], [77043619, 77044329]] [[77040050, 77040205], [77042636, 77042776], [77043619, 77044170]]
ENST00000579760 [[77020151, 77020576], [77040036, 77040205], [77042636, 77042776], [77043619, 77044557]] [[77040050, 77040205], [77042636, 77042776], [77043619, 77044170]]
ENST00000582295 [[77020250, 77020576], [77020943, 77021134]] None
ENST00000339142 [[77020252, 77020576], [77030398, 77030615], [77040036, 77040205], [77042636, 77042776], [77043619, 77045869]] [[77040050, 77040205], [77042636, 77042776], [77043619, 77044170]]
ENST00000311661 [[77020342, 77020576], [77042636, 77042776], [77043619, 77045869]] [[77042727, 77042776], [77043619, 77044170]]
ENST00000354124 [[77021744, 77022017], [77040036, 77040205], [77042636, 77042776], [77043619, 77044522]] [[77022001, 77022017], [77040036, 77040205], [77042636, 77042776], [77043619, 77044170]]
ENST00000392445 [[77021744, 77022017], [77040036, 77040205], [77042636, 77042776], [77043619, 77045870]] [[77040050, 77040205], [77042636, 77042776], [77043619, 77044170]]
ENST00000581774 [[77030266, 77030615], [77040036, 77040205], [77042636, 77042776], [77043619, 77044329]] [[77040050, 77040205], [77042636, 77042776], [77043619, 77044170]]
ENST00000583904 [[77037807, 77037917], [77040036, 77040205], [77042636, 77042776], [77043619, 77044329]] [[77040050, 77040205], [77042636, 77042776], [77043619, 77044170]]
ENST00000580474 [[77039674, 77040205], [77042636, 77042776], [77043619, 77044548]] [[77040050, 77040205], [77042636, 77042776], [77043619, 77044170]]
ENST00000582625 [[77042982, 77043291], [77043619, 77044398]] None
NM_153372 [[77019015, 77019170], [77040036, 77040205], [77042636, 77042776], [77043619, 77045870]] [[77040050, 77040205], [77042636, 77042776], [77043619, 77044170]]
NM_198594 [[77020151, 77020576], [77042636, 77042776], [77043619, 77045870]] [[77042727, 77042776], [77043619, 77044170]]
NM_030968 [[77020151, 77020576], [77040036, 77040205], [77042636, 77042776], [77043619, 77045870]] [[77040050, 77040205], [77042636, 77042776], [77043619, 77044170]]
NR_049769 [[77021681, 77022017], [77040036, 77040205], [77042636, 77042776], [77043619, 77045870]] None
NM_198593 [[77030380, 77030615], [77040036, 77040205], [77042636, 77042776], [77043619, 77045870]] [[77040050, 77040205], [77042636, 77042776], [77043619, 77044170]]
Promoter
Chrom Start End Description
chr17 77020146 77020158 CAGE_peak_7_at_C1QTNF1_5end
chr17 77020171 77020195 CAGE_peak_3_at_C1QTNF1_5end
chr17 77020224 77020262 CAGE_peak_1_at_C1QTNF1_5end
chr17 77020273 77020288 CAGE_peak_4_at_C1QTNF1_5end
chr17 77020303 77020314 CAGE_peak_5_at_C1QTNF1_5end
chr17 77020325 77020348 CAGE_peak_2_at_C1QTNF1_5end
chr17 77020477 77020492 CAGE_peak_6_at_C1QTNF1_5end
chr17 77021702 77021717 CAGE_peak_8_at_C1QTNF1_5end
chr17 77030376 77030391 CAGE_peak_9_at_C1QTNF1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I048960 48960689 48962294 1.07 [{'connected_gene': 'UBE2Z', 'score': 16.96}, {'connected_gene': 'ATP5MC1', 'score': 15.96}, {'connected_gene': 'NFE2L1', 'score': 4.01}, {'connected_gene': 'ENSG00000238804', 'score': 0.77}, {'connected_gene': 'GIP', 'score': 0.44}]
chr17 GH17I048970 48970470 48974154 1.54 [{'connected_gene': 'UBE2Z', 'score': 12.67}, {'connected_gene': 'ENSG00000262837', 'score': 11.75}, {'connected_gene': 'TTLL6', 'score': 5.29}, {'connected_gene': 'PHOSPHO1', 'score': 4.53}, {'connected_gene': 'IGF2BP1', 'score': 1.85}, {'connected_gene': 'SNF8', 'score': 1.58}, {'connected_gene': 'GIP', 'score': 0.77}]
chr17 GH17I079047 79047314 79047628 0.4 [{'connected_gene': 'ENGASE', 'score': 19.88}, {'connected_gene': 'C1QTNF1', 'score': 12.35}, {'connected_gene': 'CANT1', 'score': 11.75}, {'connected_gene': 'C1QTNF1-AS1', 'score': 0.37}]
chr17 GH17I079072 79072629 79076262 1.94 [{'connected_gene': 'ENGASE', 'score': 562.4}, {'connected_gene': 'C1QTNF1', 'score': 21.55}, {'connected_gene': 'CANT1', 'score': 11.01}, {'connected_gene': 'PIR37581', 'score': 0.39}]
chr17 GH17I079053 79053123 79053837 0.38 [{'connected_gene': 'ENGASE', 'score': 14.21}, {'connected_gene': 'C1QTNF1', 'score': 11.87}, {'connected_gene': 'C1QTNF1-AS1', 'score': 0.31}]
chr17 GH17I079114 79114426 79115238 0.84 [{'connected_gene': 'USP36', 'score': 11.28}, {'connected_gene': 'C1QTNF1', 'score': 9.83}, {'connected_gene': 'ENSG00000266711', 'score': 0.37}, {'connected_gene': 'PIR37581', 'score': 0.31}, {'connected_gene': 'RBFOX3', 'score': 0.04}]
chr17 GH17I078932 78932459 78936912 1.73 [{'connected_gene': 'USP36', 'score': 17.63}, {'connected_gene': 'C1QTNF1', 'score': 10.0}, {'connected_gene': 'ENSG00000267491', 'score': 7.63}, {'connected_gene': 'CEP295NL', 'score': 6.11}, {'connected_gene': 'CANT1', 'score': 1.72}, {'connected_gene': 'TIMP2', 'score': 0.44}, {'connected_gene': 'GC17P078963', 'score': 0.31}]
chr17 GH17I079007 79007514 79012665 2.24 [{'connected_gene': 'CANT1', 'score': 560.07}, {'connected_gene': 'USP36', 'score': 20.38}, {'connected_gene': 'ENGASE', 'score': 15.89}, {'connected_gene': 'GC17P079001', 'score': 0.44}, {'connected_gene': 'C1QTNF1', 'score': 0.39}]
chr17 GH17I078985 78985649 78988270 1.32 [{'connected_gene': 'CANT1', 'score': 27.73}, {'connected_gene': 'USP36', 'score': 20.39}, {'connected_gene': 'C1QTNF1', 'score': 11.36}, {'connected_gene': 'ENGASE', 'score': 5.88}, {'connected_gene': 'LGALS3BP', 'score': 0.44}, {'connected_gene': 'PIR37172', 'score': 0.44}]
chr17 GH17I079016 79016947 79018382 0.57 [{'connected_gene': 'CANT1', 'score': 6.43}, {'connected_gene': 'C1QTNF1', 'score': 0.44}]
chr17 GH17I078939 78939421 78941117 0.84 [{'connected_gene': 'C1QTNF1', 'score': 10.01}, {'connected_gene': 'TIMP2', 'score': 0.39}, {'connected_gene': 'GC17P078963', 'score': 0.34}]
chr17 GH17I079036 79036082 79039733 1.44 [{'connected_gene': 'C1QTNF1', 'score': 21.41}, {'connected_gene': 'ENGASE', 'score': 11.05}, {'connected_gene': 'CANT1', 'score': 11.02}, {'connected_gene': 'BIRC5', 'score': 5.09}, {'connected_gene': 'CYTH1', 'score': 5.01}, {'connected_gene': 'USP36', 'score': 1.59}, {'connected_gene': 'C1QTNF1-AS1', 'score': 0.39}]
chr17 GH17I079022 79022249 79028788 2.66 [{'connected_gene': 'C1QTNF1', 'score': 564.89}, {'connected_gene': 'ENGASE', 'score': 8.16}, {'connected_gene': 'CANT1', 'score': 8.16}, {'connected_gene': 'C1QTNF1-AS1', 'score': 0.77}]
chr17 GH17I079054 79054445 79055135 0.49 [{'connected_gene': 'C1QTNF1', 'score': 11.87}, {'connected_gene': 'ENGASE', 'score': 11.49}, {'connected_gene': 'C1QTNF1-AS1', 'score': 0.31}]
chr17 GH17I079058 79058611 79059204 0.69 [{'connected_gene': 'C1QTNF1', 'score': 20.97}, {'connected_gene': 'USP36', 'score': 10.21}, {'connected_gene': 'ENGASE', 'score': 10.1}, {'connected_gene': 'C1QTNF1-AS1', 'score': 0.29}]
chr17 GH17I079033 79033788 79034755 0.89 [{'connected_gene': 'C1QTNF1', 'score': 13.18}, {'connected_gene': 'BIRC5', 'score': 4.61}, {'connected_gene': 'C1QTNF1-AS1', 'score': 0.44}, {'connected_gene': 'ENGASE', 'score': 0.28}]
chr17 GH17I079346 79346905 79347185 0.22 [{'connected_gene': 'C1QTNF1', 'score': 10.18}, {'connected_gene': 'RBFOX3', 'score': 3.16}, {'connected_gene': 'GC17P079350', 'score': 0.77}, {'connected_gene': 'GC17M079269', 'score': 0.19}]
chr17 GH17I079339 79339654 79341849 0.74 [{'connected_gene': 'C1QTNF1', 'score': 10.18}, {'connected_gene': 'GC17P079350', 'score': 0.44}, {'connected_gene': 'GC17M079269', 'score': 0.2}, {'connected_gene': 'RBFOX3', 'score': 0.06}]
chr17 GH17I079039 79039933 79040146 0.44 [{'connected_gene': 'C1QTNF1', 'score': 21.61}, {'connected_gene': 'CANT1', 'score': 11.0}, {'connected_gene': 'CYTH1', 'score': 3.31}, {'connected_gene': 'ENGASE', 'score': 3.0}, {'connected_gene': 'C1QTNF1-AS1', 'score': 0.39}]
chr17 GH17I048968 48968585 48968644 0.61 [{'connected_gene': 'GIP', 'score': 550.77}, {'connected_gene': 'IGF2BP1', 'score': 0.31}]
chr17 GH17I079046 79046779 79046948 0.58 [{'connected_gene': 'C1QTNF1', 'score': 11.91}, {'connected_gene': 'C1QTNF1-AS1', 'score': 0.37}, {'connected_gene': 'ENGASE', 'score': 0.34}]
chr17 GH17I079042 79042459 79042648 0.89 [{'connected_gene': 'C1QTNF1', 'score': 13.44}, {'connected_gene': 'C1QTNF1-AS1', 'score': 0.39}, {'connected_gene': 'ENGASE', 'score': 0.31}]
chr17 GH17I079048 79047039 79047228 0.63 [{'connected_gene': 'C1QTNF1', 'score': 11.91}, {'connected_gene': 'C1QTNF1-AS1', 'score': 0.37}, {'connected_gene': 'ENGASE', 'score': 0.34}]
chr17 GH17I079045 79045939 79046128 0.96 [{'connected_gene': 'C1QTNF1', 'score': 20.94}, {'connected_gene': 'C1QTNF1-AS1', 'score': 0.37}, {'connected_gene': 'ENGASE', 'score': 0.31}]
chr17 GH17I079019 79019341 79021287 1.25 [{'connected_gene': 'C1QTNF1', 'score': 6.41}, {'connected_gene': 'C1QTNF1-AS1', 'score': 0.44}, {'connected_gene': 'CANT1', 'score': 0.39}]
chr17 GH17I048992 48992116 48993109 0.49 [{'connected_gene': 'SNF8', 'score': 5.68}, {'connected_gene': 'IGF2BP1', 'score': 0.77}, {'connected_gene': 'GIP', 'score': 0.34}]
chr17 GH17I048990 48990801 48991000 0.84 [{'connected_gene': 'IGF2BP1', 'score': 0.44}, {'connected_gene': 'GIP', 'score': 0.34}]
chr17 GH17I079029 79029006 79030172 0.59 [{'connected_gene': 'C1QTNF1-AS1', 'score': 550.77}, {'connected_gene': 'C1QTNF1', 'score': 0.44}, {'connected_gene': 'ENGASE', 'score': 0.26}]
chr17 GH17I078999 78999986 79002116 0.46 [{'connected_gene': 'GC17P079001', 'score': 550.77}, {'connected_gene': 'GC17M079109', 'score': 550.77}, {'connected_gene': 'CANT1', 'score': 12.65}, {'connected_gene': 'C1QTNF1', 'score': 11.51}, {'connected_gene': 'BIRC5', 'score': 6.04}]
chr17 GH17I078997 78997811 78999513 0.79 [{'connected_gene': 'PIR52059', 'score': 550.77}, {'connected_gene': 'GC17M079104', 'score': 550.77}, {'connected_gene': 'GC17M079090', 'score': 550.77}, {'connected_gene': 'GC17M079109', 'score': 550.77}, {'connected_gene': 'PIR56301', 'score': 550.77}, {'connected_gene': 'PIR47743', 'score': 550.77}, {'connected_gene': 'GC17M079095', 'score': 550.77}, {'connected_gene': 'CANT1', 'score': 17.02}, {'connected_gene': 'C1QTNF1', 'score': 11.51}]
chr17 GH17I079388 79388579 79388748 0.63 [{'connected_gene': 'GC17M079381', 'score': 550.77}, {'connected_gene': 'C1QTNF1', 'score': 11.21}, {'connected_gene': 'PIR34960', 'score': 0.18}, {'connected_gene': 'RBFOX3', 'score': 0.07}]

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