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
ENST00000274368 [[76248537, 76249040], [76249425, 76249519], [76249853, 76250011], [76251477, 76251688], [76254565, 76254714], [76259167, 76259285], [76264552, 76265299]] [[76248959, 76249040], [76249425, 76249519], [76249853, 76250011], [76251477, 76251688], [76254565, 76254714], [76259167, 76259285], [76264552, 76264710]]
ENST00000506501 [[76248873, 76249040], [76249425, 76249519], [76249853, 76250011], [76251477, 76251688], [76254565, 76254847]] [[76248959, 76249040], [76249425, 76249519], [76249853, 76250011], [76251477, 76251688], [76254565, 76254738]]
ENST00000512446 [[76249241, 76249519], [76249853, 76250011], [76251477, 76251688], [76254565, 76254669]] None
ENST00000514258 [[76254521, 76254714], [76259167, 76259285], [76272189, 76272345], [76276785, 76276983]] None
ENST00000503763 [[76259059, 76259285], [76264552, 76264781]] None
NM_001882 [[76248679, 76249040], [76249425, 76249519], [76249853, 76250011], [76251477, 76251688], [76254565, 76254714], [76259167, 76259285], [76264552, 76265299]] [[76248959, 76249040], [76249425, 76249519], [76249853, 76250011], [76251477, 76251688], [76254565, 76254714], [76259167, 76259285], [76264552, 76264710]]
Promoter
Chrom Start End Description
chr5 76248681 76248690 CAGE_peak_5_at_CRHBP_5end
chr5 76248797 76248808 CAGE_peak_3_at_CRHBP_5end
chr5 76248833 76248836 CAGE_peak_9_at_CRHBP_5end
chr5 76248861 76248877 CAGE_peak_1_at_CRHBP_5end
chr5 76248878 76248889 CAGE_peak_4_at_CRHBP_5end
chr5 76249436 76249479 CAGE_peak_2_at_CRHBP_5end
chr5 76249493 76249508 CAGE_peak_6_at_CRHBP_5end
chr5 76254428 76254466 CAGE_peak_7_at_CRHBP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I077029 77029440 77031902 2.06 [{'connected_gene': 'AGGF1', 'score': 556.35}, {'connected_gene': 'ENSG00000250615', 'score': 10.83}, {'connected_gene': 'SNORA47', 'score': 10.63}, {'connected_gene': 'ZBED3-AS1', 'score': 10.6}, {'connected_gene': 'CRHBP', 'score': 10.31}]
chr5 GH05I076830 76830588 76832112 1.1 [{'connected_gene': 'F2RL1', 'score': 39.77}, {'connected_gene': 'ALDH7A1P1', 'score': 16.15}, {'connected_gene': 'ENSG00000225407', 'score': 11.11}, {'connected_gene': 'F2R', 'score': 11.11}, {'connected_gene': 'RNU6ATAC36P', 'score': 10.99}, {'connected_gene': 'CRHBP', 'score': 10.99}, {'connected_gene': 'RN7SL208P', 'score': 0.44}, {'connected_gene': 'GC05P076819', 'score': 0.39}, {'connected_gene': 'GC05P076820', 'score': 0.39}, {'connected_gene': 'GC05P076755', 'score': 0.18}]
chr5 GH05I076804 76804007 76809780 1.65 [{'connected_gene': 'F2RL1', 'score': 42.01}, {'connected_gene': 'ENSG00000225407', 'score': 10.83}, {'connected_gene': 'F2R', 'score': 10.83}, {'connected_gene': 'CRHBP', 'score': 10.11}, {'connected_gene': 'ENSG00000250615', 'score': 9.34}, {'connected_gene': 'GC05P076755', 'score': 0.23}]
chr5 GH05I076793 76793414 76793963 0.2 [{'connected_gene': 'F2RL1', 'score': 15.41}, {'connected_gene': 'ENSG00000225407', 'score': 11.06}, {'connected_gene': 'F2R', 'score': 11.06}, {'connected_gene': 'CRHBP', 'score': 10.67}, {'connected_gene': 'GC05P076755', 'score': 0.28}]
chr5 GH05I076794 76794441 76795402 0.89 [{'connected_gene': 'F2RL1', 'score': 15.87}, {'connected_gene': 'ENSG00000225407', 'score': 11.06}, {'connected_gene': 'F2R', 'score': 11.06}, {'connected_gene': 'CRHBP', 'score': 10.67}, {'connected_gene': 'GC05P076755', 'score': 0.28}]
chr5 GH05I076810 76810566 76811574 0.8 [{'connected_gene': 'F2RL1', 'score': 40.17}, {'connected_gene': 'ENSG00000225407', 'score': 10.71}, {'connected_gene': 'F2R', 'score': 10.7}, {'connected_gene': 'CRHBP', 'score': 10.1}, {'connected_gene': 'GC05P076755', 'score': 0.22}]
chr5 GH05I076786 76786872 76792622 1.65 [{'connected_gene': 'F2RL1', 'score': 28.15}, {'connected_gene': 'F2R', 'score': 22.98}, {'connected_gene': 'ENSG00000225407', 'score': 11.07}, {'connected_gene': 'CRHBP', 'score': 10.66}, {'connected_gene': 'GC05P076755', 'score': 0.29}]
chr5 GH05I076687 76687587 76693813 1.16 [{'connected_gene': 'F2R', 'score': 18.63}, {'connected_gene': 'ENSG00000225407', 'score': 11.63}, {'connected_gene': 'LOC101929109', 'score': 10.51}, {'connected_gene': 'IQGAP2', 'score': 10.39}, {'connected_gene': 'RNU6ATAC36P', 'score': 9.85}, {'connected_gene': 'CRHBP', 'score': 9.85}, {'connected_gene': 'F2RL1', 'score': 6.72}, {'connected_gene': 'ENSG00000277188', 'score': 0.34}, {'connected_gene': 'F2RL2', 'score': 0.2}]
chr5 GH05I076868 76868001 76868201 0.73 [{'connected_gene': 'CRHBP', 'score': 17.96}, {'connected_gene': 'ZBED3-AS1', 'score': 10.29}, {'connected_gene': 'SNORA47', 'score': 10.29}, {'connected_gene': 'ENSG00000225407', 'score': 9.9}, {'connected_gene': 'F2R', 'score': 9.9}, {'connected_gene': 'S100Z', 'score': 0.37}, {'connected_gene': 'PIR54977', 'score': 0.31}, {'connected_gene': 'GC05P076755', 'score': 0.14}]
chr5 GH05I076869 76868216 76868365 0.71 [{'connected_gene': 'CRHBP', 'score': 16.63}, {'connected_gene': 'ZBED3-AS1', 'score': 10.29}, {'connected_gene': 'SNORA47', 'score': 10.29}, {'connected_gene': 'ENSG00000225407', 'score': 9.9}, {'connected_gene': 'F2R', 'score': 9.9}, {'connected_gene': 'S100Z', 'score': 0.37}, {'connected_gene': 'PIR54977', 'score': 0.31}, {'connected_gene': 'GC05P076755', 'score': 0.14}]
chr5 GH05I076874 76874116 76874385 0.82 [{'connected_gene': 'CRHBP', 'score': 9.83}, {'connected_gene': 'S100Z', 'score': 0.34}, {'connected_gene': 'PIR54977', 'score': 0.34}, {'connected_gene': 'GC05P076755', 'score': 0.13}]
chr5 GH05I076875 76875201 76875800 0.69 [{'connected_gene': 'CRHBP', 'score': 9.75}, {'connected_gene': 'PIR54977', 'score': 0.37}, {'connected_gene': 'S100Z', 'score': 0.31}, {'connected_gene': 'GC05P076755', 'score': 0.13}]
chr5 GH05I076943 76943073 76943362 0.2 [{'connected_gene': 'CRHBP', 'score': 37.24}, {'connected_gene': 'RNU6ATAC36P', 'score': 0.44}, {'connected_gene': 'PIR54977', 'score': 0.25}, {'connected_gene': 'S100Z', 'score': 0.16}]
chr5 GH05I076951 76951179 76952538 0.38 [{'connected_gene': 'CRHBP', 'score': 550.77}, {'connected_gene': 'RNU6ATAC36P', 'score': 0.77}, {'connected_gene': 'S100Z', 'score': 0.15}]
chr5 GH05I076956 76956107 76957367 0.31 [{'connected_gene': 'CRHBP', 'score': 16.01}, {'connected_gene': 'LOC105379043', 'score': 0.31}]
chr5 GH05I076957 76957788 76961282 1.17 [{'connected_gene': 'CRHBP', 'score': 0.44}, {'connected_gene': 'LOC105379043', 'score': 0.34}]
chr5 GH05I076952 76952950 76954849 1.26 [{'connected_gene': 'CRHBP', 'score': 565.66}, {'connected_gene': 'LOC105379043', 'score': 0.31}]
chr5 GH05I076836 76836637 76840936 1.15 [{'connected_gene': 'RN7SL208P', 'score': 550.77}, {'connected_gene': 'F2RL1', 'score': 39.93}, {'connected_gene': 'F2R', 'score': 17.25}, {'connected_gene': 'ENSG00000225407', 'score': 11.11}, {'connected_gene': 'CRHBP', 'score': 11.0}, {'connected_gene': 'RNU6ATAC36P', 'score': 11.0}, {'connected_gene': 'S100Z', 'score': 0.39}, {'connected_gene': 'GC05P076755', 'score': 0.18}]