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
ENST00000540326 [[127019884, 127020000], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127114717]] [[127019975, 127020000], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127113226]]
ENST00000373603 [[127019884, 127020000], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127115586]] [[127064243, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127113226]]
ENST00000373600 [[127020241, 127020364], [127055127, 127055292], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127115586]] [[127055219, 127055292], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127113226]]
ENST00000320246 [[127020248, 127020364], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127115586]] [[127064243, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127113226]]
ENST00000545174 [[127020529, 127020640], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127114717]] [[127064243, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127113226]]
ENST00000444973 [[127020538, 127020640], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101886]] [[127064243, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101886]]
ENST00000454453 [[127020539, 127020640], [127064214, 127064333], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110076]] [[127064243, 127064333], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110076]]
ENST00000373596 [[127023751, 127023858], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724]] [[127064243, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724]]
ENST00000425237 [[127023751, 127023862], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101893]] [[127064243, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101893]]
ENST00000423785 [[127048718, 127048769], [127055127, 127055292], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088684]] [[127055219, 127055292], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088684]]
ENST00000394199 [[127054249, 127054367], [127055127, 127055292], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127114717]] [[127055219, 127055292], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127113226]]
ENST00000546191 [[127054249, 127054367], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127114717]] [[127064243, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127113226]]
ENST00000422297 [[127054257, 127054367], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101887]] [[127064243, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101887]]
ENST00000539416 [[127054698, 127054818], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127114717]] [[127054772, 127054818], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127113226]]
ENST00000447379 [[127062263, 127062436], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717]] [[127064243, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717]]
NM_001166167 [[127019884, 127020000], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127114721]] [[127019975, 127020000], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127113226]]
NM_014397 [[127020195, 127020364], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127114721]] [[127064243, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127113226]]
NM_001145001 [[127020195, 127020364], [127055127, 127055292], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127114721]] [[127055219, 127055292], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127113226]]
NM_001166168 [[127020529, 127020640], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127114721]] [[127064243, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127113226]]
NM_001166170 [[127054249, 127054367], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127114721]] [[127064243, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127113226]]
NM_001166171 [[127054249, 127054367], [127055127, 127055292], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127114721]] [[127055219, 127055292], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127113226]]
NM_001166169 [[127054698, 127054818], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127114721]] [[127054772, 127054818], [127064214, 127064333], [127074787, 127074928], [127076201, 127076264], [127083737, 127083848], [127088608, 127088717], [127089616, 127089724], [127101849, 127101944], [127109987, 127110101], [127113115, 127113226]]
Promoter
Chrom Start End Description
chr9 127020202 127020292 CAGE_peak_1_at_NEK6_5end
chr9 127020294 127020301 CAGE_peak_6_at_NEK6_5end
chr9 127020503 127020537 CAGE_peak_4_at_NEK6_5end
chr9 127020553 127020622 CAGE_peak_2_at_NEK6_5end
chr9 127023648 127023661 CAGE_peak_11_at_NEK6_5end
chr9 127023704 127023756 CAGE_peak_3_at_NEK6_5end
chr9 127023762 127023769 CAGE_peak_14_at_NEK6_5end
chr9 127048403 127048433 CAGE_peak_9_at_NEK6_5end
chr9 127048437 127048462 CAGE_peak_10_at_NEK6_5end
chr9 127054217 127054252 CAGE_peak_7_at_NEK6_5end
chr9 127054254 127054276 CAGE_peak_5_at_NEK6_5end
chr9 127054288 127054311 CAGE_peak_8_at_NEK6_5end
chr9 127054324 127054331 CAGE_peak_22_at_NEK6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I124414 124414041 124416091 2.28 [{'connected_gene': 'PSMB7', 'score': 560.8}, {'connected_gene': 'GAPVD1', 'score': 40.49}, {'connected_gene': 'GOLGA1', 'score': 30.84}, {'connected_gene': 'PRPS1P2', 'score': 11.81}, {'connected_gene': 'NEK6', 'score': 11.57}, {'connected_gene': 'GC09P124378', 'score': 0.28}]
chr9 GH09I124242 124242166 124243653 1.05 [{'connected_gene': 'GOLGA1', 'score': 13.76}, {'connected_gene': 'PRPS1P2', 'score': 12.38}, {'connected_gene': 'GAPVD1', 'score': 10.52}, {'connected_gene': 'NEK6', 'score': 5.94}, {'connected_gene': 'GC09M124203', 'score': 0.28}]
chr9 GH09I124410 124410408 124413147 0.97 [{'connected_gene': 'NR5A1', 'score': 10.79}, {'connected_gene': 'ENSG00000231149', 'score': 10.78}, {'connected_gene': 'NEK6', 'score': 10.66}, {'connected_gene': 'PSMB7', 'score': 5.13}, {'connected_gene': 'GC09P124378', 'score': 0.29}]
chr9 GH09I124256 124256030 124269333 2.51 [{'connected_gene': 'NEK6', 'score': 569.44}, {'connected_gene': 'LOC613206', 'score': 550.77}, {'connected_gene': 'ENSG00000227200', 'score': 550.77}, {'connected_gene': 'DENND1A', 'score': 3.55}]
chr9 GH09I124277 124277399 124302118 2.23 [{'connected_gene': 'NEK6', 'score': 575.57}, {'connected_gene': 'DENND1A', 'score': 1.72}, {'connected_gene': 'LOC105376269', 'score': 0.44}, {'connected_gene': 'PIR33879', 'score': 0.22}]
chr9 GH09I124196 124196401 124198709 1.59 [{'connected_gene': 'NEK6', 'score': 11.62}, {'connected_gene': 'DENND1A', 'score': 2.26}, {'connected_gene': 'GC09M124203', 'score': 0.44}, {'connected_gene': 'LOC105376268', 'score': 0.1}]
chr9 GH09I124238 124238616 124240200 1.13 [{'connected_gene': 'NEK6', 'score': 13.46}, {'connected_gene': 'DENND1A', 'score': 2.39}, {'connected_gene': 'GC09M124203', 'score': 0.28}]
chr9 GH09I124220 124220001 124224399 1.55 [{'connected_gene': 'NEK6', 'score': 31.27}, {'connected_gene': 'DENND1A', 'score': 1.26}, {'connected_gene': 'GC09M124203', 'score': 0.37}]
chr9 GH09I124390 124390348 124396308 1.63 [{'connected_gene': 'NEK6', 'score': 11.85}, {'connected_gene': 'PSMB7', 'score': 11.54}, {'connected_gene': 'NR5A1', 'score': 9.99}, {'connected_gene': 'ENSG00000231149', 'score': 9.98}, {'connected_gene': 'ENSG00000231227', 'score': 9.7}, {'connected_gene': 'LOC100505588', 'score': 9.7}, {'connected_gene': 'LHX2', 'score': 9.7}, {'connected_gene': 'DENND1A', 'score': 2.12}, {'connected_gene': 'GC09P124378', 'score': 0.39}]
chr9 GH09I124385 124385538 124387897 1.56 [{'connected_gene': 'NEK6', 'score': 11.07}, {'connected_gene': 'PSMB7', 'score': 10.87}, {'connected_gene': 'ENSG00000231149', 'score': 10.08}, {'connected_gene': 'NR5A1', 'score': 10.08}, {'connected_gene': 'GC09P124378', 'score': 0.44}]
chr9 GH09I124340 124340830 124345669 0.86 [{'connected_gene': 'NEK6', 'score': 15.58}, {'connected_gene': 'PSMB7', 'score': 5.28}, {'connected_gene': 'PIR33879', 'score': 0.77}, {'connected_gene': 'LOC105376269', 'score': 0.22}]
chr9 GH09I124360 124360941 124361966 0.6 [{'connected_gene': 'NEK6', 'score': 8.04}, {'connected_gene': 'PIR47713', 'score': 0.44}, {'connected_gene': 'GC09P124375', 'score': 0.39}, {'connected_gene': 'PSMB7', 'score': 0.23}]
chr9 GH09I124398 124398082 124401397 0.86 [{'connected_gene': 'NEK6', 'score': 11.27}, {'connected_gene': 'PSMB7', 'score': 0.37}, {'connected_gene': 'GC09P124378', 'score': 0.34}]
chr9 GH09I124212 124212198 124213128 0.51 [{'connected_gene': 'NEK6', 'score': 4.54}, {'connected_gene': 'ADGRD2', 'score': 4.22}, {'connected_gene': 'GC09M124203', 'score': 0.44}]
chr9 GH09I124387 124387944 124389836 1.23 [{'connected_gene': 'NEK6', 'score': 11.49}, {'connected_gene': 'ENSG00000231149', 'score': 9.98}, {'connected_gene': 'NR5A1', 'score': 9.98}, {'connected_gene': 'GC09P124378', 'score': 0.39}, {'connected_gene': 'PSMB7', 'score': 0.31}]
chr9 GH09I124215 124215402 124219800 1.55 [{'connected_gene': 'NEK6', 'score': 17.82}, {'connected_gene': 'RPL35', 'score': 11.33}, {'connected_gene': 'DENND1A', 'score': 7.01}, {'connected_gene': 'GC09M124203', 'score': 0.39}]
chr9 GH09I124329 124329730 124331612 0.38 [{'connected_gene': 'NEK6', 'score': 15.52}, {'connected_gene': 'PIR33879', 'score': 0.37}, {'connected_gene': 'LOC105376269', 'score': 0.25}]
chr9 GH09I124308 124308683 124311739 1.21 [{'connected_gene': 'NEK6', 'score': 11.95}, {'connected_gene': 'LOC105376269', 'score': 0.31}, {'connected_gene': 'PIR33879', 'score': 0.28}]
chr9 GH09I124305 124305560 124308365 1.12 [{'connected_gene': 'NEK6', 'score': 13.9}, {'connected_gene': 'LOC105376269', 'score': 0.34}, {'connected_gene': 'PIR33879', 'score': 0.28}]
chr9 GH09I124303 124302535 124303512 0.4 [{'connected_gene': 'NEK6', 'score': 10.75}, {'connected_gene': 'LOC105376269', 'score': 0.37}, {'connected_gene': 'PIR33879', 'score': 0.26}]
chr9 GH09I124331 124331891 124333322 0.31 [{'connected_gene': 'NEK6', 'score': 15.6}, {'connected_gene': 'PIR33879', 'score': 0.39}, {'connected_gene': 'LOC105376269', 'score': 0.25}]
chr9 GH09I124131 124131241 124132373 0.56 [{'connected_gene': 'NEK6', 'score': 4.92}, {'connected_gene': 'GC09M124203', 'score': 0.19}, {'connected_gene': 'LOC105376268', 'score': 0.15}]
chr9 GH09I124132 124132762 124133193 0.68 [{'connected_gene': 'NEK6', 'score': 5.01}, {'connected_gene': 'GC09M124203', 'score': 0.19}, {'connected_gene': 'LOC105376268', 'score': 0.15}]
chr9 GH09I124137 124137034 124139823 1.01 [{'connected_gene': 'NEK6', 'score': 5.75}, {'connected_gene': 'GC09M124203', 'score': 0.2}, {'connected_gene': 'LOC105376268', 'score': 0.14}]
chr9 GH09I124133 124133376 124134431 0.99 [{'connected_gene': 'NEK6', 'score': 6.56}, {'connected_gene': 'GC09M124203', 'score': 0.19}, {'connected_gene': 'LOC105376268', 'score': 0.15}]
chr9 GH09I124142 124142746 124145373 1.15 [{'connected_gene': 'NEK6', 'score': 6.86}, {'connected_gene': 'GC09M124203', 'score': 0.21}, {'connected_gene': 'LOC105376268', 'score': 0.14}]
chr9 GH09I124270 124270628 124272625 0.84 [{'connected_gene': 'NEK6', 'score': 20.02}, {'connected_gene': 'PIR48553', 'score': 0.77}, {'connected_gene': 'ENSG00000227200', 'score': 0.44}]
chr9 GH09I124269 124269823 124270485 0.38 [{'connected_gene': 'NEK6', 'score': 19.36}, {'connected_gene': 'PIR48553', 'score': 0.77}, {'connected_gene': 'ENSG00000227200', 'score': 0.44}]
chr9 GH09I124207 124207963 124210003 0.76 [{'connected_gene': 'NEK6', 'score': 8.09}, {'connected_gene': 'GC09M124203', 'score': 0.77}]
chr9 GH09I124251 124251367 124252811 0.86 [{'connected_gene': 'NEK6', 'score': 0.44}, {'connected_gene': 'GC09M124203', 'score': 0.25}]
chr9 GH09I124213 124213839 124214999 0.92 [{'connected_gene': 'NEK6', 'score': 17.86}, {'connected_gene': 'GC09M124203', 'score': 0.39}]
chr9 GH09I124254 124254122 124254800 0.8 [{'connected_gene': 'NEK6', 'score': 14.83}, {'connected_gene': 'GC09M124203', 'score': 0.23}]
chr9 GH09I124255 124255314 124255577 0.74 [{'connected_gene': 'NEK6', 'score': 8.29}, {'connected_gene': 'GC09M124203', 'score': 0.23}]
chr9 GH09I124210 124210578 124211784 0.87 [{'connected_gene': 'NEK6', 'score': 12.62}, {'connected_gene': 'GC09M124203', 'score': 0.44}]
chr9 GH09I124302 124302385 124302401 0.4 [{'connected_gene': 'LOC105376269', 'score': 0.37}, {'connected_gene': 'PIR33879', 'score': 0.26}, {'connected_gene': 'NEK6', 'score': 0.26}]
chr9 GH09I124206 124205800 124207837 0.38 [{'connected_gene': 'LOC105376268', 'score': 4.99}, {'connected_gene': 'GC09M124203', 'score': 0.77}, {'connected_gene': 'NEK6', 'score': 0.23}]
chr9 GH09I124378 124378053 124378365 0.51 [{'connected_gene': 'GC09P124378', 'score': 550.77}, {'connected_gene': 'NEK6', 'score': 10.07}, {'connected_gene': 'GC09P124375', 'score': 0.77}, {'connected_gene': 'PSMB7', 'score': 0.28}]
chr9 GH09I124272 124272996 124276623 0.56 [{'connected_gene': 'PIR48553', 'score': 550.77}, {'connected_gene': 'NEK6', 'score': 19.71}, {'connected_gene': 'LOC105376269', 'score': 0.44}]
chr9 GH09I124205 124205401 124205600 0.2 [{'connected_gene': 'GC09M124203', 'score': 550.77}, {'connected_gene': 'NEK6', 'score': 0.23}]
chr9 GH09I124273 124272644 124272733 0.4 [{'connected_gene': 'PIR48553', 'score': 550.77}, {'connected_gene': 'ENSG00000227200', 'score': 0.44}, {'connected_gene': 'NEK6', 'score': 0.37}]
chr9 GH09I124208 124205001 124205200 0.2 [{'connected_gene': 'GC09M124203', 'score': 550.77}, {'connected_gene': 'NEK6', 'score': 0.23}]
chr9 GH09I124339 124339922 124340071 0.31 [{'connected_gene': 'PIR33879', 'score': 0.44}, {'connected_gene': 'LOC105376269', 'score': 0.22}, {'connected_gene': 'NEK6', 'score': 0.18}]
chr9 GH09I124320 124320304 124321091 0.95 [{'connected_gene': 'PIR33879', 'score': 0.31}, {'connected_gene': 'LOC105376269', 'score': 0.28}, {'connected_gene': 'NEK6', 'score': 0.21}]
chr9 GH09I124357 124357658 124358431 0.43 [{'connected_gene': 'PIR47713', 'score': 0.77}, {'connected_gene': 'LOC100129034', 'score': 0.77}, {'connected_gene': 'GC09P124375', 'score': 0.37}, {'connected_gene': 'PSMB7', 'score': 0.22}, {'connected_gene': 'NEK6', 'score': 0.15}]
chr9 GH09I124352 124352148 124355613 0.38 [{'connected_gene': 'PIR52389', 'score': 550.77}, {'connected_gene': 'PIR47713', 'score': 550.77}, {'connected_gene': 'LOC100129034', 'score': 550.77}, {'connected_gene': 'NEK6', 'score': 11.99}, {'connected_gene': 'PSMB7', 'score': 6.79}]