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
ENST00000332904 [[85954409, 85954571], [85955249, 85955345], [85956260, 85956406], [85957541, 85957592], [85958787, 85958877], [85960356, 85960443], [85961562, 85961676], [85962735, 85962879], [85964282, 85964361], [85965582, 85965683], [85967929, 85968133], [85968484, 85968637], [85970756, 85970921], [85971403, 85971471], [85971934, 85972163], [85972846, 85973104], [85978834, 85979377]] [[85954516, 85954571], [85955249, 85955345], [85956260, 85956406], [85957541, 85957592], [85958787, 85958877], [85960356, 85960443], [85961562, 85961676], [85962735, 85962879], [85964282, 85964361], [85965582, 85965683], [85967929, 85968133], [85968484, 85968637], [85970756, 85970921], [85971403, 85971471], [85971934, 85972163], [85972846, 85973104], [85978834, 85979032]]
ENST00000372117 [[85954413, 85954571], [85955249, 85955345], [85956260, 85956406], [85957541, 85957592], [85958787, 85958877], [85960356, 85960443], [85961562, 85961676], [85962735, 85962879], [85964282, 85964361], [85965582, 85965683], [85967929, 85968133], [85968484, 85968637], [85970756, 85970921], [85971403, 85971471], [85971934, 85972163], [85972846, 85973104], [85973837, 85977122]] [[85954516, 85954571], [85955249, 85955345], [85956260, 85956406], [85957541, 85957592], [85958787, 85958877], [85960356, 85960443], [85961562, 85961676], [85962735, 85962879], [85964282, 85964361], [85965582, 85965683], [85967929, 85968133], [85968484, 85968637], [85970756, 85970921], [85971403, 85971471], [85971934, 85972163], [85972846, 85973104], [85973837, 85974377]]
ENST00000440770 [[85961657, 85961676], [85962735, 85962879], [85964282, 85964361], [85965582, 85965683], [85967929, 85968133], [85968484, 85968637], [85971403, 85971471], [85971934, 85972163], [85972846, 85973104], [85973837, 85977119]] [[85962819, 85962879], [85964282, 85964361], [85965582, 85965683], [85967929, 85968133], [85968484, 85968637], [85971403, 85971471], [85971934, 85972163], [85972846, 85973104], [85973837, 85974377]]
ENST00000459673 [[85972632, 85973104], [85973837, 85977122]] None
NM_033100 [[85954390, 85954571], [85955249, 85955345], [85956260, 85956406], [85957541, 85957592], [85958787, 85958877], [85960356, 85960443], [85961562, 85961676], [85962735, 85962879], [85964282, 85964361], [85965582, 85965683], [85967929, 85968133], [85968484, 85968637], [85970756, 85970921], [85971403, 85971471], [85971934, 85972163], [85972846, 85973104], [85973837, 85978452]] [[85954516, 85954571], [85955249, 85955345], [85956260, 85956406], [85957541, 85957592], [85958787, 85958877], [85960356, 85960443], [85961562, 85961676], [85962735, 85962879], [85964282, 85964361], [85965582, 85965683], [85967929, 85968133], [85968484, 85968637], [85970756, 85970921], [85971403, 85971471], [85971934, 85972163], [85972846, 85973104], [85973837, 85974377]]
NM_001171971 [[85954390, 85954571], [85955249, 85955345], [85956260, 85956406], [85957541, 85957592], [85958787, 85958877], [85960356, 85960443], [85961562, 85961676], [85962735, 85962879], [85964282, 85964361], [85965582, 85965683], [85967929, 85968133], [85968484, 85968637], [85970756, 85970921], [85971403, 85971471], [85971934, 85972163], [85972846, 85973104], [85978834, 85979377]] [[85954516, 85954571], [85955249, 85955345], [85956260, 85956406], [85957541, 85957592], [85958787, 85958877], [85960356, 85960443], [85961562, 85961676], [85962735, 85962879], [85964282, 85964361], [85965582, 85965683], [85967929, 85968133], [85968484, 85968637], [85970756, 85970921], [85971403, 85971471], [85971934, 85972163], [85972846, 85973104], [85978834, 85979032]]
Promoter
Chrom Start End Description
chr10 85954269 85954280 CAGE_peak_4_at_CDHR1_5end
chr10 85954282 85954314 CAGE_peak_1_at_CDHR1_5end
chr10 85954317 85954331 CAGE_peak_3_at_CDHR1_5end
chr10 85954337 85954346 CAGE_peak_6_at_CDHR1_5end
chr10 85954377 85954438 CAGE_peak_2_at_CDHR1_5end
chr10 85954449 85954467 CAGE_peak_5_at_CDHR1_5end
chr10 85954494 85954501 CAGE_peak_9_at_CDHR1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I084196 84196467 84199418 0.62 [{'connected_gene': 'CDHR1', 'score': 17.15}, {'connected_gene': 'LRIT2', 'score': 15.17}, {'connected_gene': 'GHITM', 'score': 11.22}, {'connected_gene': 'PIR57101', 'score': 0.39}, {'connected_gene': 'GC10P084182', 'score': 0.37}]
chr10 GH10I084161 84161085 84161234 0.31 [{'connected_gene': 'CDHR1', 'score': 11.84}, {'connected_gene': 'LRIT2', 'score': 10.58}, {'connected_gene': 'LRIT1', 'score': 10.54}, {'connected_gene': 'CERNA2', 'score': 0.39}, {'connected_gene': 'ENSG00000271933', 'score': 0.34}]
chr10 GH10I084163 84163386 84164452 0.31 [{'connected_gene': 'CDHR1', 'score': 11.84}, {'connected_gene': 'LRIT2', 'score': 10.58}, {'connected_gene': 'LRIT1', 'score': 10.54}, {'connected_gene': 'CERNA2', 'score': 0.44}, {'connected_gene': 'ENSG00000271933', 'score': 0.34}]
chr10 GH10I084159 84159019 84159639 0.2 [{'connected_gene': 'CDHR1', 'score': 12.19}, {'connected_gene': 'LRIT2', 'score': 11.13}, {'connected_gene': 'LRIT1', 'score': 10.54}, {'connected_gene': 'RNU1-65P', 'score': 9.53}, {'connected_gene': 'C10orf99', 'score': 7.83}, {'connected_gene': 'CERNA2', 'score': 0.39}, {'connected_gene': 'ENSG00000271933', 'score': 0.37}]
chr10 GH10I084156 84156644 84157411 0.96 [{'connected_gene': 'CDHR1', 'score': 12.19}, {'connected_gene': 'LRIT2', 'score': 11.13}, {'connected_gene': 'RNU1-65P', 'score': 9.54}, {'connected_gene': 'ENSG00000271933', 'score': 5.32}, {'connected_gene': 'C10orf99', 'score': 5.01}, {'connected_gene': 'CERNA2', 'score': 0.37}]
chr10 GH10I084148 84148125 84148254 0.43 [{'connected_gene': 'CDHR1', 'score': 12.39}, {'connected_gene': 'ENSG00000271933', 'score': 5.49}, {'connected_gene': 'GHITM', 'score': 0.44}, {'connected_gene': 'CERNA2', 'score': 0.34}]
chr10 GH10I084135 84135325 84136786 0.52 [{'connected_gene': 'CDHR1', 'score': 10.74}, {'connected_gene': 'ENSG00000271933', 'score': 5.82}, {'connected_gene': 'GHITM', 'score': 0.77}, {'connected_gene': 'GC10M084047', 'score': 0.34}]
chr10 GH10I084075 84075159 84078707 0.74 [{'connected_gene': 'CDHR1', 'score': 10.54}, {'connected_gene': 'RNU1-65P', 'score': 10.45}, {'connected_gene': 'HMGN2P8', 'score': 0.77}, {'connected_gene': 'GC10M084047', 'score': 0.29}, {'connected_gene': 'LOC105378399', 'score': 0.19}]
chr10 GH10I084195 84194616 84194675 1.09 [{'connected_gene': 'CDHR1', 'score': 550.77}, {'connected_gene': 'PIR57101', 'score': 0.39}, {'connected_gene': 'GC10P084182', 'score': 0.39}]
chr10 GH10I084194 84194445 84194614 1.35 [{'connected_gene': 'CDHR1', 'score': 562.88}, {'connected_gene': 'GC10P084182', 'score': 0.39}]
chr10 GH10I084267 84267601 84268000 0.79 [{'connected_gene': 'CCSER2', 'score': 17.46}, {'connected_gene': 'LINC00858', 'score': 6.43}, {'connected_gene': 'CDHR1', 'score': 5.47}, {'connected_gene': 'GC10P084248', 'score': 0.37}, {'connected_gene': 'GC10P084249', 'score': 0.37}, {'connected_gene': 'GC10M084258', 'score': 0.31}]
chr10 GH10I084171 84171378 84174149 1.4 [{'connected_gene': 'C10orf99', 'score': 550.77}, {'connected_gene': 'CERNA2', 'score': 550.77}, {'connected_gene': 'CDHR1', 'score': 8.63}, {'connected_gene': 'LRIT2', 'score': 7.15}]
chr10 GH10I084176 84176042 84180044 1.46 [{'connected_gene': 'LRIT2', 'score': 11.16}, {'connected_gene': 'CDHR1', 'score': 10.71}, {'connected_gene': 'CCSER2', 'score': 2.53}, {'connected_gene': 'C10orf99', 'score': 0.77}, {'connected_gene': 'GC10P084182', 'score': 0.77}]
chr10 GH10I084265 84265565 84265714 0.2 [{'connected_gene': 'LRIT2', 'score': 11.84}, {'connected_gene': 'CDHR1', 'score': 10.92}, {'connected_gene': 'LINC00858', 'score': 0.39}, {'connected_gene': 'GC10P084248', 'score': 0.37}, {'connected_gene': 'GC10P084249', 'score': 0.37}, {'connected_gene': 'GC10M084258', 'score': 0.29}]
chr10 GH10I084264 84264685 84264874 0.81 [{'connected_gene': 'LRIT2', 'score': 11.86}, {'connected_gene': 'CDHR1', 'score': 10.92}, {'connected_gene': 'GC10P084248', 'score': 0.37}, {'connected_gene': 'GC10P084249', 'score': 0.37}, {'connected_gene': 'LINC00858', 'score': 0.37}, {'connected_gene': 'GC10M084258', 'score': 0.29}]
chr10 GH10I084257 84257165 84257314 0.77 [{'connected_gene': 'LRIT2', 'score': 12.62}, {'connected_gene': 'CDHR1', 'score': 10.11}, {'connected_gene': 'RNU1-65P', 'score': 9.26}, {'connected_gene': 'GC10P084248', 'score': 0.44}, {'connected_gene': 'GC10P084249', 'score': 0.44}, {'connected_gene': 'RGR', 'score': 0.34}, {'connected_gene': 'LINC00858', 'score': 0.34}]
chr10 GH10I084200 84200783 84201880 0.91 [{'connected_gene': 'LRIT2', 'score': 15.55}, {'connected_gene': 'GHITM', 'score': 11.21}, {'connected_gene': 'CDHR1', 'score': 0.44}, {'connected_gene': 'PIR57101', 'score': 0.44}, {'connected_gene': 'GC10P084182', 'score': 0.37}]
chr10 GH10I084191 84191265 84191354 0.2 [{'connected_gene': 'LRIT2', 'score': 11.22}, {'connected_gene': 'GHITM', 'score': 11.07}, {'connected_gene': 'CDHR1', 'score': 0.77}, {'connected_gene': 'GC10P084182', 'score': 0.44}]
chr10 GH10I084188 84188481 84189108 0.2 [{'connected_gene': 'LRIT2', 'score': 11.2}, {'connected_gene': 'GHITM', 'score': 11.09}, {'connected_gene': 'CDHR1', 'score': 0.44}, {'connected_gene': 'GC10P084182', 'score': 0.44}]
chr10 GH10I084202 84202846 84203154 0.2 [{'connected_gene': 'LRIT2', 'score': 16.39}, {'connected_gene': 'LRIT1', 'score': 11.52}, {'connected_gene': 'GHITM', 'score': 11.3}, {'connected_gene': 'PIR57101', 'score': 0.77}, {'connected_gene': 'CDHR1', 'score': 0.44}]
chr10 GH10I084137 84137290 84141512 2.1 [{'connected_gene': 'GHITM', 'score': 566.96}, {'connected_gene': 'ENSG00000271933', 'score': 555.87}, {'connected_gene': 'RPS3AP5', 'score': 12.05}, {'connected_gene': 'CDHR1', 'score': 10.5}, {'connected_gene': 'C10orf99', 'score': 4.47}, {'connected_gene': 'GC10M084047', 'score': 0.31}]
chr10 GH10I084214 84214685 84214814 0.56 [{'connected_gene': 'LRIT1', 'score': 22.38}, {'connected_gene': 'GHITM', 'score': 10.88}, {'connected_gene': 'CDHR1', 'score': 6.11}, {'connected_gene': 'PIR57101', 'score': 0.44}, {'connected_gene': 'LRIT2', 'score': 0.39}]
chr10 GH10I084205 84205705 84205854 0.67 [{'connected_gene': 'LRIT1', 'score': 11.52}, {'connected_gene': 'GHITM', 'score': 11.29}, {'connected_gene': 'PIR57101', 'score': 0.77}, {'connected_gene': 'CDHR1', 'score': 0.39}]
chr10 GH10I084230 84230396 84230674 0.34 [{'connected_gene': 'PIR46157', 'score': 550.77}, {'connected_gene': 'PIR34083', 'score': 550.77}, {'connected_gene': 'RGR', 'score': 64.32}, {'connected_gene': 'LRIT2', 'score': 12.01}, {'connected_gene': 'LRIT1', 'score': 2.52}, {'connected_gene': 'CDHR1', 'score': 1.68}]
chr10 GH10I084295 84295715 84297730 0.69 [{'connected_gene': 'GC10M084258', 'score': 550.77}, {'connected_gene': 'CCSER2', 'score': 12.12}, {'connected_gene': 'LRIT2', 'score': 10.76}, {'connected_gene': 'CDHR1', 'score': 5.42}, {'connected_gene': 'RGR', 'score': 4.87}, {'connected_gene': 'LINC00858', 'score': 0.37}]
chr10 GH10I084186 84186433 84188476 0.73 [{'connected_gene': 'ENSG00000271933', 'score': 27.29}, {'connected_gene': 'RPS3AP5', 'score': 21.8}, {'connected_gene': 'CDHR1', 'score': 21.44}, {'connected_gene': 'LRIT2', 'score': 11.2}, {'connected_gene': 'GHITM', 'score': 11.09}, {'connected_gene': 'GC10P084182', 'score': 0.44}]