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
ENST00000255448 [[36345477, 36348836], [36362348, 36362422], [36367502, 36367616], [36379835, 36379916], [36382360, 36382457], [36383154, 36383232], [36384971, 36385105], [36396865, 36397012], [36401771, 36401891], [36402386, 36402444], [36410169, 36410278], [36413228, 36413313], [36428635, 36428730], [36445360, 36445477], [36521494, 36521594], [36686005, 36686352], [36699898, 36700293], [36705250, 36705443]] [[36348778, 36348836], [36362348, 36362422], [36367502, 36367616], [36379835, 36379916], [36382360, 36382457], [36383154, 36383232], [36384971, 36385105], [36396865, 36397012], [36401771, 36401891], [36402386, 36402444], [36410169, 36410278], [36413228, 36413313], [36428635, 36428730], [36445360, 36445477], [36521494, 36521594], [36686005, 36686352], [36699898, 36700274]]
ENST00000360631 [[36345477, 36348836], [36367502, 36367616], [36379835, 36379916], [36382360, 36382457], [36383154, 36383232], [36384971, 36385105], [36396865, 36397012], [36401771, 36401891], [36402386, 36402444], [36410169, 36410278], [36413228, 36413313], [36428635, 36428730], [36445360, 36445477], [36521494, 36521594], [36686005, 36686352], [36699898, 36700293], [36705250, 36705443]] [[36348671, 36348836], [36367502, 36367616], [36379835, 36379916], [36382360, 36382457], [36383154, 36383232], [36384971, 36385105], [36396865, 36397012], [36401771, 36401891], [36402386, 36402444], [36410169, 36410278], [36413228, 36413313], [36428635, 36428730], [36445360, 36445477], [36521494, 36521594], [36686005, 36686352], [36699898, 36700274]]
ENST00000379892 [[36424059, 36424913], [36428635, 36428730], [36445360, 36445477], [36521494, 36521594], [36686005, 36686352], [36699898, 36700293], [36705250, 36705443]] [[36424856, 36424913], [36428635, 36428730], [36445360, 36445477], [36521494, 36521594], [36686005, 36686352], [36699898, 36700274]]
ENST00000379893 [[36345477, 36348836], [36367502, 36367616], [36379835, 36379916], [36382360, 36382457], [36383154, 36383232], [36384971, 36385105], [36396865, 36397012], [36401771, 36401891], [36402386, 36402444], [36410169, 36410278], [36413228, 36413313], [36428635, 36428730], [36429646, 36429779]] [[36348671, 36348836], [36367502, 36367616], [36379835, 36379916], [36382360, 36382457], [36383154, 36383232], [36384971, 36385105], [36396865, 36397012], [36401771, 36401891], [36402386, 36402444], [36410169, 36410278], [36413228, 36413313], [36428635, 36428730], [36429646, 36429665]]
ENST00000477664 [[36361994, 36362422], [36367502, 36367616]] None
ENST00000486239 [[36379452, 36379916], [36382360, 36382474]] None
ENST00000460982 [[36420036, 36424913], [36428635, 36428730], [36429646, 36429921]] None
NM_004734 [[36342788, 36348836], [36362348, 36362422], [36367502, 36367616], [36379835, 36379916], [36382360, 36382457], [36383154, 36383232], [36384971, 36385105], [36396865, 36397012], [36401771, 36401891], [36402386, 36402444], [36410169, 36410278], [36413228, 36413313], [36428635, 36428730], [36445360, 36445477], [36521494, 36521594], [36686005, 36686352], [36699898, 36700293], [36705250, 36705514]] [[36348778, 36348836], [36362348, 36362422], [36367502, 36367616], [36379835, 36379916], [36382360, 36382457], [36383154, 36383232], [36384971, 36385105], [36396865, 36397012], [36401771, 36401891], [36402386, 36402444], [36410169, 36410278], [36413228, 36413313], [36428635, 36428730], [36445360, 36445477], [36521494, 36521594], [36686005, 36686352], [36699898, 36700274]]
NM_001330071 [[36342788, 36348836], [36367502, 36367616], [36379835, 36379916], [36382360, 36382457], [36383154, 36383232], [36384971, 36385105], [36396865, 36397012], [36401771, 36401891], [36402386, 36402444], [36410169, 36410278], [36413228, 36413313], [36428635, 36428730], [36445360, 36445477], [36521494, 36521594], [36686005, 36686352], [36699898, 36700293], [36705250, 36705514]] [[36348671, 36348836], [36367502, 36367616], [36379835, 36379916], [36382360, 36382457], [36383154, 36383232], [36384971, 36385105], [36396865, 36397012], [36401771, 36401891], [36402386, 36402444], [36410169, 36410278], [36413228, 36413313], [36428635, 36428730], [36445360, 36445477], [36521494, 36521594], [36686005, 36686352], [36699898, 36700274]]
NM_001330072 [[36342788, 36348836], [36367502, 36367616], [36379835, 36379916], [36382360, 36382457], [36383154, 36383232], [36384971, 36385105], [36396865, 36397012], [36401771, 36401891], [36402386, 36402444], [36410169, 36410278], [36413228, 36413313], [36428635, 36428730], [36445360, 36445477], [36521494, 36521594], [36686005, 36686352], [36699898, 36700293], [36705906, 36706157]] [[36348671, 36348836], [36367502, 36367616], [36379835, 36379916], [36382360, 36382457], [36383154, 36383232], [36384971, 36385105], [36396865, 36397012], [36401771, 36401891], [36402386, 36402444], [36410169, 36410278], [36413228, 36413313], [36428635, 36428730], [36445360, 36445477], [36521494, 36521594], [36686005, 36686352], [36699898, 36700274]]
NM_001195415 [[36342788, 36348836], [36362348, 36362422], [36367502, 36367616], [36379835, 36379916], [36382360, 36382457], [36383154, 36383232], [36384971, 36385105], [36396865, 36397012], [36401771, 36401891], [36402386, 36402444], [36410169, 36410278], [36413228, 36413313], [36428635, 36428730], [36429646, 36429998]] [[36348778, 36348836], [36362348, 36362422], [36367502, 36367616], [36379835, 36379916], [36382360, 36382457], [36383154, 36383232], [36384971, 36385105], [36396865, 36397012], [36401771, 36401891], [36402386, 36402444], [36410169, 36410278], [36413228, 36413313], [36428635, 36428730], [36429646, 36429665]]
NM_001195416 [[36342788, 36348836], [36367502, 36367616], [36379835, 36379916], [36382360, 36382457], [36383154, 36383232], [36384971, 36385105], [36396865, 36397012], [36401771, 36401891], [36402386, 36402444], [36410169, 36410278], [36413228, 36413313], [36428635, 36428730], [36429646, 36429998]] [[36348671, 36348836], [36367502, 36367616], [36379835, 36379916], [36382360, 36382457], [36383154, 36383232], [36384971, 36385105], [36396865, 36397012], [36401771, 36401891], [36402386, 36402444], [36410169, 36410278], [36413228, 36413313], [36428635, 36428730], [36429646, 36429665]]
NM_001195430 [[36420036, 36424913], [36428635, 36428730], [36429646, 36429998]] [[36424856, 36424913], [36428635, 36428730], [36429646, 36429665]]
Promoter
Chrom Start End Description
chr13 36429731 36429762 CAGE_peak_4_at_DCLK1_5end
chr13 36429763 36429778 CAGE_peak_7_at_DCLK1_5end
chr13 36429787 36429812 CAGE_peak_1_at_DCLK1_5end
chr13 36429819 36429826 CAGE_peak_12_at_DCLK1_5end
chr13 36429829 36429838 CAGE_peak_10_at_DCLK1_5end
chr13 36429874 36429881 CAGE_peak_13_at_DCLK1_5end
chr13 36705425 36705445 CAGE_peak_5_at_DCLK1_5end
chr13 36705448 36705488 CAGE_peak_3_at_DCLK1_5end
chr13 36705489 36705504 CAGE_peak_6_at_DCLK1_5end
chr13 36705507 36705530 CAGE_peak_2_at_DCLK1_5end
chr13 36705536 36705555 CAGE_peak_8_at_DCLK1_5end
chr13 36705564 36705583 CAGE_peak_9_at_DCLK1_5end
chr13 36705709 36705731 CAGE_peak_11_at_DCLK1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I036154 36154134 36155899 1.06 [{'connected_gene': 'DCLK1', 'score': 16.29}, {'connected_gene': 'CCDC169', 'score': 11.16}, {'connected_gene': 'SOHLH2', 'score': 10.44}, {'connected_gene': 'SPART', 'score': 3.07}]
chr13 GH13I036156 36156636 36159592 0.79 [{'connected_gene': 'DCLK1', 'score': 12.03}, {'connected_gene': 'CCDC169', 'score': 11.31}, {'connected_gene': 'SOHLH2', 'score': 10.74}, {'connected_gene': 'RNU6-71P', 'score': 10.16}]
chr13 GH13I036151 36151193 36153054 0.2 [{'connected_gene': 'DCLK1', 'score': 12.54}, {'connected_gene': 'CCDC169', 'score': 11.85}, {'connected_gene': 'SOHLH2', 'score': 11.48}]
chr13 GH13I036096 36096111 36097027 0.31 [{'connected_gene': 'DCLK1', 'score': 11.68}, {'connected_gene': 'RFXAP', 'score': 4.62}, {'connected_gene': 'NMTRQ-TTG10-1', 'score': 0.29}]
chr13 GH13I036067 36067583 36072618 0.43 [{'connected_gene': 'DCLK1', 'score': 11.24}, {'connected_gene': 'SOHLH2', 'score': 7.39}, {'connected_gene': 'CCDC169', 'score': 7.09}, {'connected_gene': 'RFXAP', 'score': 4.78}, {'connected_gene': 'NMTRQ-TTG10-1', 'score': 0.77}]
chr13 GH13I036130 36130319 36132982 1.97 [{'connected_gene': 'DCLK1', 'score': 550.77}, {'connected_gene': 'SOHLH2', 'score': 14.11}, {'connected_gene': 'EXOSC8', 'score': 13.91}, {'connected_gene': 'CCDC169', 'score': 12.37}, {'connected_gene': 'RFXAP', 'score': 11.11}, {'connected_gene': 'SUPT20H', 'score': 10.87}, {'connected_gene': 'NMTRQ-TTG10-1', 'score': 0.2}]
chr13 GH13I036056 36056751 36057150 0.58 [{'connected_gene': 'DCLK1', 'score': 5.49}, {'connected_gene': 'SOHLH2', 'score': 4.78}, {'connected_gene': 'GC13P036065', 'score': 0.44}, {'connected_gene': 'LOC105370163', 'score': 0.08}]
chr13 GH13I035949 35949752 35949842 0.22 [{'connected_gene': 'DCLK1', 'score': 1.81}, {'connected_gene': 'LOC105370163', 'score': 0.16}, {'connected_gene': 'GC13P036065', 'score': 0.13}]
chr13 GH13I036163 36163144 36164780 1.01 [{'connected_gene': 'DCLK1', 'score': 12.05}, {'connected_gene': 'RNU6-71P', 'score': 10.81}, {'connected_gene': 'SOHLH2', 'score': 5.48}]
chr13 GH13I036074 36074575 36075308 0.53 [{'connected_gene': 'CCNA1', 'score': 3.98}, {'connected_gene': 'DCLK1', 'score': 2.96}, {'connected_gene': 'CCDC169', 'score': 1.32}, {'connected_gene': 'NMTRQ-TTG10-1', 'score': 0.44}]
chr13 GH13I036038 36038424 36039469 0.2 [{'connected_gene': 'CCDC169', 'score': 4.47}, {'connected_gene': 'GC13P036065', 'score': 0.31}, {'connected_gene': 'DCLK1', 'score': 0.16}, {'connected_gene': 'LOC105370163', 'score': 0.09}]
chr13 GH13I036190 36190756 36193968 0.49 [{'connected_gene': 'CCDC169', 'score': 5.37}, {'connected_gene': 'SOHLH2', 'score': 5.32}, {'connected_gene': 'DCLK1', 'score': 0.21}, {'connected_gene': 'CCDC169-SOHLH2', 'score': 0.14}]
chr13 GH13I036124 36124110 36124733 0.2 [{'connected_gene': 'RFXAP', 'score': 4.81}, {'connected_gene': 'DCLK1', 'score': 0.44}, {'connected_gene': 'NMTRQ-TTG10-1', 'score': 0.22}]
chr13 GH13I036147 36147608 36149034 0.51 [{'connected_gene': 'SOHLH2', 'score': 13.56}, {'connected_gene': 'CCDC169', 'score': 12.43}, {'connected_gene': 'DCLK1', 'score': 0.37}]
chr13 GH13I036082 36082495 36083521 0.31 [{'connected_gene': 'SOHLH2', 'score': 6.28}, {'connected_gene': 'CCDC169', 'score': 5.11}, {'connected_gene': 'NMTRQ-TTG10-1', 'score': 0.37}, {'connected_gene': 'DCLK1', 'score': 0.25}]
chr13 GH13I036142 36142777 36144440 0.38 [{'connected_gene': 'SOHLH2', 'score': 13.63}, {'connected_gene': 'RFXAP', 'score': 13.06}, {'connected_gene': 'CCDC169', 'score': 11.84}, {'connected_gene': 'DCLK1', 'score': 0.39}]
chr13 GH13I035917 35917384 35918751 0.4 [{'connected_gene': 'SOHLH2', 'score': 4.27}, {'connected_gene': 'LOC105370163', 'score': 0.21}, {'connected_gene': 'GC13P036065', 'score': 0.11}, {'connected_gene': 'DCLK1', 'score': 0.08}]
chr13 GH13I036214 36214534 36214593 0.89 [{'connected_gene': 'SOHLH2', 'score': 550.77}, {'connected_gene': 'RNU6-71P', 'score': 11.06}, {'connected_gene': 'CCDC169-SOHLH2', 'score': 0.18}, {'connected_gene': 'DCLK1', 'score': 0.18}]
chr13 GH13I035926 35926262 35928549 0.93 [{'connected_gene': 'MAB21L1', 'score': 4.36}, {'connected_gene': 'LOC105370163', 'score': 0.19}, {'connected_gene': 'GC13P036065', 'score': 0.12}, {'connected_gene': 'DCLK1', 'score': 0.08}]
chr13 GH13I035922 35922794 35924510 0.59 [{'connected_gene': 'MAB21L1', 'score': 5.35}, {'connected_gene': 'LOC105370163', 'score': 0.2}, {'connected_gene': 'GC13P036065', 'score': 0.11}, {'connected_gene': 'DCLK1', 'score': 0.08}]
chr13 GH13I035952 35952810 35955653 1.07 [{'connected_gene': 'MAB21L1', 'score': 5.25}, {'connected_gene': 'LOC105370163', 'score': 0.15}, {'connected_gene': 'GC13P036065', 'score': 0.14}, {'connected_gene': 'DCLK1', 'score': 0.1}]
chr13 GH13I035957 35957042 35958260 0.4 [{'connected_gene': 'MAB21L1', 'score': 4.36}, {'connected_gene': 'PHBP13', 'score': 4.34}, {'connected_gene': 'LOC105370163', 'score': 0.15}, {'connected_gene': 'GC13P036065', 'score': 0.14}, {'connected_gene': 'DCLK1', 'score': 0.09}]
chr13 GH13I035892 35892044 35892193 0.38 [{'connected_gene': 'LOC105370163', 'score': 0.28}, {'connected_gene': 'GC13P036065', 'score': 0.09}, {'connected_gene': 'DCLK1', 'score': 0.07}]
chr13 GH13I035855 35855041 35858979 1.47 [{'connected_gene': 'LOC105370163', 'score': 550.77}, {'connected_gene': 'DCLK1', 'score': 550.06}, {'connected_gene': 'GC13P036065', 'score': 0.08}]
chr13 GH13I035918 35917305 35917353 0.2 [{'connected_gene': 'LOC105370163', 'score': 0.21}, {'connected_gene': 'GC13P036065', 'score': 0.11}, {'connected_gene': 'DCLK1', 'score': 0.08}]
chr13 GH13I035978 35978624 35980986 1.05 [{'connected_gene': 'RNU6-71P', 'score': 11.31}, {'connected_gene': 'DCLK1', 'score': 10.64}, {'connected_gene': 'MAB21L1', 'score': 4.48}, {'connected_gene': 'GC13P036065', 'score': 0.17}, {'connected_gene': 'LOC105370163', 'score': 0.13}]
chr13 GH13I035984 35984870 35985353 0.6 [{'connected_gene': 'RNU6-71P', 'score': 11.09}, {'connected_gene': 'GC13P036065', 'score': 0.18}, {'connected_gene': 'LOC105370163', 'score': 0.13}, {'connected_gene': 'DCLK1', 'score': 0.11}]
chr13 GH13I035959 35959604 35959753 0.31 [{'connected_gene': 'RNU6-71P', 'score': 10.3}, {'connected_gene': 'LOC105370163', 'score': 0.15}, {'connected_gene': 'GC13P036065', 'score': 0.14}, {'connected_gene': 'DCLK1', 'score': 0.09}]
chr13 GH13I035987 35987419 35989660 0.56 [{'connected_gene': 'RNU6-71P', 'score': 11.17}, {'connected_gene': 'GC13P036065', 'score': 0.18}, {'connected_gene': 'LOC105370163', 'score': 0.12}, {'connected_gene': 'DCLK1', 'score': 0.11}]
chr13 GH13I035769 35769773 35770123 0.49 [{'connected_gene': 'LINC00445', 'score': 0.19}, {'connected_gene': 'GC13M035845', 'score': 0.18}, {'connected_gene': 'DCLK1', 'score': 0.05}]
chr13 GH13I035767 35767272 35769542 0.56 [{'connected_gene': 'LINC00445', 'score': 0.19}, {'connected_gene': 'GC13M035845', 'score': 0.18}, {'connected_gene': 'DCLK1', 'score': 0.05}]
chr13 GH13I035770 35770938 35773128 0.49 [{'connected_gene': 'PHBP13', 'score': 4.78}, {'connected_gene': 'LINC00445', 'score': 0.19}, {'connected_gene': 'GC13M035845', 'score': 0.18}, {'connected_gene': 'DCLK1', 'score': 0.05}]
chr13 GH13I035812 35812064 35813259 0.31 [{'connected_gene': 'PHBP13', 'score': 5.18}, {'connected_gene': 'GC13M035845', 'score': 0.29}, {'connected_gene': 'LINC00445', 'score': 0.13}, {'connected_gene': 'DCLK1', 'score': 0.06}]
chr13 GH13I035790 35790919 35793000 0.31 [{'connected_gene': 'PHBP13', 'score': 4.83}, {'connected_gene': 'GC13M035845', 'score': 0.22}, {'connected_gene': 'LINC00445', 'score': 0.16}, {'connected_gene': 'DCLK1', 'score': 0.05}]
chr13 GH13I036030 36030591 36031733 0.82 [{'connected_gene': 'GC13P036065', 'score': 0.29}, {'connected_gene': 'DCLK1', 'score': 0.15}, {'connected_gene': 'LOC105370163', 'score': 0.09}]
chr13 GH13I036059 36059424 36059573 0.2 [{'connected_gene': 'GC13P036065', 'score': 0.44}, {'connected_gene': 'DCLK1', 'score': 0.19}, {'connected_gene': 'LOC105370163', 'score': 0.08}]
chr13 GH13I036029 36029264 36029473 0.49 [{'connected_gene': 'GC13P036065', 'score': 0.28}, {'connected_gene': 'DCLK1', 'score': 0.15}, {'connected_gene': 'LOC105370163', 'score': 0.09}]
chr13 GH13I035847 35847560 35849215 0.2 [{'connected_gene': 'GC13M035845', 'score': 550.77}, {'connected_gene': 'LOC105370163', 'score': 0.44}, {'connected_gene': 'DCLK1', 'score': 0.06}]
chr13 GH13I035964 35964685 35965961 0.86 [{'connected_gene': 'GC13P036065', 'score': 0.15}, {'connected_gene': 'LOC105370163', 'score': 0.14}, {'connected_gene': 'DCLK1', 'score': 0.1}]
chr13 GH13I035993 35993130 35995783 0.89 [{'connected_gene': 'GC13P036065', 'score': 0.19}, {'connected_gene': 'LOC105370163', 'score': 0.12}, {'connected_gene': 'DCLK1', 'score': 0.12}]
chr13 GH13I035840 35840087 35842108 0.46 [{'connected_gene': 'GC13M035845', 'score': 0.44}, {'connected_gene': 'LINC00445', 'score': 0.11}, {'connected_gene': 'DCLK1', 'score': 0.06}]
chr13 GH13I035837 35837591 35839852 0.63 [{'connected_gene': 'GC13M035845', 'score': 0.44}, {'connected_gene': 'LINC00445', 'score': 0.11}, {'connected_gene': 'DCLK1', 'score': 0.06}]
chr13 GH13I035797 35797905 35799055 0.2 [{'connected_gene': 'GC13M035845', 'score': 0.25}, {'connected_gene': 'LINC00445', 'score': 0.15}, {'connected_gene': 'DCLK1', 'score': 0.06}]
chr13 GH13I035785 35785079 35786534 0.52 [{'connected_gene': 'GC13M035845', 'score': 0.21}, {'connected_gene': 'LINC00445', 'score': 0.17}, {'connected_gene': 'DCLK1', 'score': 0.05}]

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