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
ENST00000297632 [[125324230, 125326302], [125332326, 125332432], [125334345, 125334388], [125335561, 125335616], [125339594, 125339662], [125342988, 125343033], [125384094, 125384933]] [[125326200, 125326302], [125332326, 125332432], [125334345, 125334388], [125335561, 125335616], [125339594, 125339662], [125342988, 125343033], [125384094, 125384398]]
NM_194291 [[125323158, 125326302], [125332326, 125332432], [125334345, 125334388], [125335561, 125335616], [125339594, 125339662], [125342988, 125343033], [125384094, 125384940]] [[125326200, 125326302], [125332326, 125332432], [125334345, 125334388], [125335561, 125335616], [125339594, 125339662], [125342988, 125343033], [125384094, 125384398]]
Promoter
Chrom Start End Description
chr8 125384436 125384474 CAGE_peak_6_at_TMEM65_5end
chr8 125384547 125384572 CAGE_peak_4_at_TMEM65_5end
chr8 125384582 125384599 CAGE_peak_7_at_TMEM65_5end
chr8 125384629 125384647 CAGE_peak_5_at_TMEM65_5end
chr8 125384652 125384691 CAGE_peak_3_at_TMEM65_5end
chr8 125384696 125384763 CAGE_peak_2_at_TMEM65_5end
chr8 125384927 125384952 CAGE_peak_1_at_TMEM65_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I124355 124355487 124355809 0.44 [{'connected_gene': 'TRMT12', 'score': 2.38}, {'connected_gene': 'TATDN1', 'score': 2.23}, {'connected_gene': 'NDUFB9', 'score': 2.19}, {'connected_gene': 'TMEM65', 'score': 0.37}, {'connected_gene': 'GC08M124331', 'score': 0.37}]
chr8 GH08I124194 124194017 124202681 1.74 [{'connected_gene': 'TRMT12', 'score': 34.73}, {'connected_gene': 'FAM91A1', 'score': 33.34}, {'connected_gene': 'TMEM65', 'score': 30.96}, {'connected_gene': 'WASHC5', 'score': 30.4}, {'connected_gene': 'WASHC5-AS1', 'score': 29.88}, {'connected_gene': 'RNF139-AS1', 'score': 22.34}, {'connected_gene': 'ZNF572', 'score': 19.71}, {'connected_gene': 'RNF139', 'score': 16.81}, {'connected_gene': 'NSMCE2', 'score': 13.44}, {'connected_gene': 'FER1L6-AS2', 'score': 12.96}, {'connected_gene': 'LOC105375740', 'score': 11.82}, {'connected_gene': 'RNU6-756P', 'score': 11.37}, {'connected_gene': 'ENSG00000254249', 'score': 11.31}, {'connected_gene': 'FER1L6-AS1', 'score': 11.31}, {'connected_gene': 'TATDN1', 'score': 10.49}, {'connected_gene': 'ENSG00000253106', 'score': 10.21}, {'connected_gene': 'WDYHV1', 'score': 9.66}, {'connected_gene': 'ANXA13', 'score': 4.87}, {'connected_gene': 'LOC101927588', 'score': 0.25}]
chr8 GH08I124351 124351600 124352329 0.92 [{'connected_gene': 'TRMT12', 'score': 15.07}, {'connected_gene': 'RNF139', 'score': 14.49}, {'connected_gene': 'TMEM65', 'score': 12.75}, {'connected_gene': 'LOC105375740', 'score': 11.84}, {'connected_gene': 'GC08M124331', 'score': 0.39}]
chr8 GH08I124041 124041015 124042242 0.75 [{'connected_gene': 'FER1L6-AS1', 'score': 550.77}, {'connected_gene': 'ENSG00000254249', 'score': 550.77}, {'connected_gene': 'TMEM65', 'score': 8.41}, {'connected_gene': 'GC08M123978', 'score': 0.44}, {'connected_gene': 'FER1L6', 'score': 0.09}]
chr8 GH08I124103 124103688 124105787 0.49 [{'connected_gene': 'FER1L6-AS1', 'score': 11.22}, {'connected_gene': 'ENSG00000254249', 'score': 11.22}, {'connected_gene': 'TMEM65', 'score': 8.0}, {'connected_gene': 'GC08M124076', 'score': 0.31}, {'connected_gene': 'LOC392268', 'score': 0.28}, {'connected_gene': 'FER1L6-AS2', 'score': 0.2}, {'connected_gene': 'FER1L6', 'score': 0.07}]
chr8 GH08I124140 124140648 124141936 0.8 [{'connected_gene': 'LOC392268', 'score': 550.77}, {'connected_gene': 'TMEM65', 'score': 40.19}, {'connected_gene': 'FER1L6-AS2', 'score': 12.79}, {'connected_gene': 'FER1L6-AS1', 'score': 10.84}, {'connected_gene': 'ENSG00000254249', 'score': 10.84}, {'connected_gene': 'GC08M124136', 'score': 0.34}, {'connected_gene': 'GC08M124076', 'score': 0.21}]
chr8 GH08I124179 124179872 124183896 1.38 [{'connected_gene': 'TMEM65', 'score': 61.43}, {'connected_gene': 'TATDN1', 'score': 10.49}, {'connected_gene': 'WDYHV1', 'score': 9.66}, {'connected_gene': 'FER1L6-AS2', 'score': 0.39}, {'connected_gene': 'LOC101927588', 'score': 0.2}]
chr8 GH08I124427 124427315 124428192 0.43 [{'connected_gene': 'TMEM65', 'score': 4.68}, {'connected_gene': 'GC08P124425', 'score': 0.77}, {'connected_gene': 'TRMT12', 'score': 0.34}, {'connected_gene': 'GC08P124382', 'score': 0.26}]
chr8 GH08I124033 124033801 124034000 0.2 [{'connected_gene': 'TMEM65', 'score': 8.23}, {'connected_gene': 'FER1L6-AS1', 'score': 0.44}, {'connected_gene': 'ENSG00000254249', 'score': 0.44}, {'connected_gene': 'GC08M123978', 'score': 0.39}, {'connected_gene': 'GC08P124011', 'score': 0.34}, {'connected_gene': 'GC08P124010', 'score': 0.34}, {'connected_gene': 'GC08P124012', 'score': 0.34}, {'connected_gene': 'PIR31943', 'score': 0.34}, {'connected_gene': 'GC08P124013', 'score': 0.34}, {'connected_gene': 'FER1L6', 'score': 0.09}]
chr8 GH08I124037 124037840 124038009 0.62 [{'connected_gene': 'TMEM65', 'score': 8.22}, {'connected_gene': 'FER1L6-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000254249', 'score': 0.77}, {'connected_gene': 'GC08M123978', 'score': 0.44}, {'connected_gene': 'GC08P124011', 'score': 0.31}, {'connected_gene': 'GC08P124010', 'score': 0.31}, {'connected_gene': 'GC08P124012', 'score': 0.31}, {'connected_gene': 'PIR31943', 'score': 0.31}, {'connected_gene': 'GC08P124013', 'score': 0.31}, {'connected_gene': 'FER1L6', 'score': 0.09}]
chr8 GH08I124044 124044148 124045022 0.72 [{'connected_gene': 'TMEM65', 'score': 7.84}, {'connected_gene': 'GC08M123978', 'score': 0.77}, {'connected_gene': 'FER1L6-AS1', 'score': 0.77}, {'connected_gene': 'FER1L6', 'score': 0.08}]
chr8 GH08I124190 124190212 124191940 0.4 [{'connected_gene': 'TMEM65', 'score': 10.7}, {'connected_gene': 'FER1L6-AS1', 'score': 10.52}, {'connected_gene': 'ENSG00000254249', 'score': 10.52}, {'connected_gene': 'ANXA13', 'score': 4.77}, {'connected_gene': 'FER1L6-AS2', 'score': 0.37}, {'connected_gene': 'LOC101927588', 'score': 0.22}]
chr8 GH08I124408 124408651 124409502 0.31 [{'connected_gene': 'TMEM65', 'score': 17.09}, {'connected_gene': 'FER1L6-AS1', 'score': 10.72}, {'connected_gene': 'ENSG00000254249', 'score': 10.72}, {'connected_gene': 'ENSG00000253227', 'score': 6.61}, {'connected_gene': 'GC08P124425', 'score': 0.37}, {'connected_gene': 'GC08P124382', 'score': 0.31}]
chr8 GH08I124147 124147720 124147809 0.54 [{'connected_gene': 'TMEM65', 'score': 42.87}, {'connected_gene': 'FER1L6-AS2', 'score': 12.99}, {'connected_gene': 'FER1L6-AS1', 'score': 10.71}, {'connected_gene': 'ENSG00000254249', 'score': 10.71}, {'connected_gene': 'ARF1P3', 'score': 0.77}, {'connected_gene': 'LOC392268', 'score': 0.44}, {'connected_gene': 'GC08M124136', 'score': 0.37}]
chr8 GH08I124175 124175033 124175595 0.43 [{'connected_gene': 'TMEM65', 'score': 45.38}, {'connected_gene': 'FER1L6-AS2', 'score': 0.77}, {'connected_gene': 'LOC101927588', 'score': 0.19}]
chr8 GH08I124290 124290219 124290571 0.25 [{'connected_gene': 'TMEM65', 'score': 4.01}, {'connected_gene': 'RNF139', 'score': 1.38}, {'connected_gene': 'ENSG00000237586', 'score': 0.39}, {'connected_gene': 'ENSG00000253227', 'score': 0.37}]
chr8 GH08I124226 124226220 124226429 0.56 [{'connected_gene': 'TMEM65', 'score': 10.5}, {'connected_gene': 'LOC101927588', 'score': 0.34}, {'connected_gene': 'FER1L6-AS2', 'score': 0.23}]
chr8 GH08I124370 124370600 124373566 2.01 [{'connected_gene': 'TMEM65', 'score': 550.77}, {'connected_gene': 'ENSG00000253227', 'score': 7.94}, {'connected_gene': 'GC08M124331', 'score': 0.29}]
chr8 GH08I124363 124363971 124365200 0.79 [{'connected_gene': 'TMEM65', 'score': 0.44}, {'connected_gene': 'GC08M124331', 'score': 0.31}]
chr8 GH08I124107 124107460 124112057 0.75 [{'connected_gene': 'FER1L6-AS2', 'score': 11.3}, {'connected_gene': 'FER1L6-AS1', 'score': 11.28}, {'connected_gene': 'ENSG00000254249', 'score': 11.28}, {'connected_gene': 'TMEM65', 'score': 9.65}, {'connected_gene': 'LOC392268', 'score': 0.29}, {'connected_gene': 'GC08M124076', 'score': 0.29}, {'connected_gene': 'FER1L6', 'score': 0.07}]
chr8 GH08I124192 124192947 124193645 0.43 [{'connected_gene': 'FER1L6-AS2', 'score': 11.77}, {'connected_gene': 'TMEM65', 'score': 10.71}, {'connected_gene': 'FER1L6-AS1', 'score': 10.52}, {'connected_gene': 'ENSG00000254249', 'score': 10.52}, {'connected_gene': 'LOC101927588', 'score': 0.23}]
chr8 GH08I123924 123924781 123924890 0.65 [{'connected_gene': 'ENSG00000254000', 'score': 550.77}, {'connected_gene': 'FER1L6-AS1', 'score': 11.43}, {'connected_gene': 'ENSG00000254249', 'score': 11.43}, {'connected_gene': 'TMEM65', 'score': 10.7}, {'connected_gene': 'GC08P123918', 'score': 0.44}, {'connected_gene': 'FER1L6', 'score': 0.19}]
chr8 GH08I124279 124279860 124281299 0.56 [{'connected_gene': 'ENSG00000254249', 'score': 10.35}, {'connected_gene': 'FER1L6-AS1', 'score': 10.35}, {'connected_gene': 'TMEM65', 'score': 6.38}, {'connected_gene': 'ENSG00000253227', 'score': 0.44}, {'connected_gene': 'ENSG00000237586', 'score': 0.34}]
chr8 GH08I124376 124376143 124377368 0.46 [{'connected_gene': 'ENSG00000253227', 'score': 7.65}, {'connected_gene': 'TMEM65', 'score': 0.77}, {'connected_gene': 'GC08P124382', 'score': 0.44}]