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
ENST00000289371 [[99953815, 99954052], [99976698, 99976824], [99976927, 99977012], [99977610, 99978283], [99980107, 99980325], [99980733, 99980884], [99984955, 99985054], [99985854, 99985944], [99988118, 99988193], [99992809, 99993099], [99995481, 99995589], [99995780, 99995891], [99998621, 99998689], [99999242, 99999384], [100006180, 100006312], [100006681, 100006864], [100007006, 100007168], [100009429, 100009561], [100010729, 100010861], [100010971, 100011048], [100011181, 100011346], [100013222, 100013361], [100015210, 100015372], [100015769, 100017789]] [[99954017, 99954052], [99976698, 99976824], [99976927, 99977012], [99977610, 99978283], [99980107, 99980325], [99980733, 99980884], [99984955, 99985054], [99985854, 99985944], [99988118, 99988193], [99992809, 99993099], [99995481, 99995589], [99995780, 99995891], [99998621, 99998689], [99999242, 99999384], [100006180, 100006312], [100006681, 100006864], [100007006, 100007168], [100009429, 100009561], [100010729, 100010861], [100010971, 100011048], [100011181, 100011346], [100013222, 100013361], [100015210, 100015372], [100015769, 100015877]]
ENST00000470868 [[100006069, 100006312], [100006681, 100006864], [100007006, 100007153]] None
ENST00000494190 [[100011271, 100011346], [100013222, 100013361], [100015210, 100015660]] None
ENST00000470023 [[100013509, 100015372], [100015769, 100016237]] None
NM_015904 [[99953833, 99954052], [99976698, 99976824], [99976927, 99977012], [99977610, 99978283], [99980107, 99980325], [99980733, 99980884], [99984955, 99985054], [99985854, 99985944], [99988118, 99988193], [99992809, 99993099], [99995481, 99995589], [99995780, 99995891], [99998621, 99998689], [99999242, 99999384], [100006180, 100006312], [100006681, 100006864], [100007006, 100007168], [100009429, 100009561], [100010729, 100010861], [100010971, 100011048], [100011181, 100011346], [100013222, 100013361], [100015210, 100015372], [100015769, 100016728]] [[99954017, 99954052], [99976698, 99976824], [99976927, 99977012], [99977610, 99978283], [99980107, 99980325], [99980733, 99980884], [99984955, 99985054], [99985854, 99985944], [99988118, 99988193], [99992809, 99993099], [99995481, 99995589], [99995780, 99995891], [99998621, 99998689], [99999242, 99999384], [100006180, 100006312], [100006681, 100006864], [100007006, 100007168], [100009429, 100009561], [100010729, 100010861], [100010971, 100011048], [100011181, 100011346], [100013222, 100013361], [100015210, 100015372], [100015769, 100015877]]
Promoter
Chrom Start End Description
chr2 99953827 99953894 CAGE_peak_1_at_EIF5B_5end
chr2 99953983 99954001 CAGE_peak_2_at_EIF5B_5end
chr2 99977665 99977695 CAGE_peak_3_at_EIF5B_5end
chr2 99977750 99977764 CAGE_peak_7_at_EIF5B_5end
chr2 99977767 99977790 CAGE_peak_6_at_EIF5B_5end
chr2 99977910 99977931 CAGE_peak_8_at_EIF5B_5end
chr2 99977985 99978027 CAGE_peak_4_at_EIF5B_5end
chr2 99978029 99978057 CAGE_peak_11_at_EIF5B_5end
chr2 99978119 99978130 CAGE_peak_16_at_EIF5B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I099856 99856860 99858363 0.46 [{'connected_gene': 'EIF5B', 'score': 5.05}, {'connected_gene': 'GC02P099881', 'score': 0.34}, {'connected_gene': 'LOC105373504', 'score': 0.1}, {'connected_gene': 'AFF3', 'score': 0.06}]
chr2 GH02I099323 99323688 99325091 0.31 [{'connected_gene': 'TSGA10', 'score': 25.72}, {'connected_gene': 'REV1', 'score': 15.67}, {'connected_gene': 'ENSG00000241962', 'score': 12.08}, {'connected_gene': 'MITD1', 'score': 11.49}, {'connected_gene': 'MRPL30', 'score': 11.49}, {'connected_gene': 'LIPT1', 'score': 10.01}, {'connected_gene': 'LYG1', 'score': 8.95}, {'connected_gene': 'PIR33754', 'score': 0.44}, {'connected_gene': 'EIF5B', 'score': 0.39}, {'connected_gene': 'TXNDC9', 'score': 0.37}]
chr2 GH02I099388 99388977 99390435 0.31 [{'connected_gene': 'TSGA10', 'score': 15.41}, {'connected_gene': 'LYG1', 'score': 13.78}, {'connected_gene': 'TXNDC9', 'score': 11.47}, {'connected_gene': 'EIF5B', 'score': 11.46}, {'connected_gene': 'REV1', 'score': 10.65}, {'connected_gene': 'ENSG00000273306', 'score': 0.37}]
chr2 GH02I099430 99430539 99431947 0.52 [{'connected_gene': 'TSGA10', 'score': 24.39}, {'connected_gene': 'TXNDC9', 'score': 11.23}, {'connected_gene': 'EIF5B', 'score': 11.23}, {'connected_gene': 'REV1', 'score': 11.05}, {'connected_gene': 'MRPL30', 'score': 9.8}, {'connected_gene': 'LIPT1', 'score': 9.79}, {'connected_gene': 'LYG1', 'score': 9.75}, {'connected_gene': 'ENSG00000273306', 'score': 0.31}]
chr2 GH02I099398 99398917 99399459 0.52 [{'connected_gene': 'REV1', 'score': 10.71}, {'connected_gene': 'ENSG00000273306', 'score': 0.44}, {'connected_gene': 'TXNDC9', 'score': 0.22}, {'connected_gene': 'EIF5B', 'score': 0.21}]
chr2 GH02I099334 99334998 99338930 2.11 [{'connected_gene': 'TXNDC9', 'score': 550.77}, {'connected_gene': 'EIF5B', 'score': 550.77}, {'connected_gene': 'LOC550644', 'score': 23.76}, {'connected_gene': 'TSGA10', 'score': 15.84}, {'connected_gene': 'REV1', 'score': 14.81}, {'connected_gene': 'ENSG00000273306', 'score': 12.29}, {'connected_gene': 'UNC50', 'score': 11.68}, {'connected_gene': 'MITD1', 'score': 10.31}, {'connected_gene': 'LYG1', 'score': 9.45}, {'connected_gene': 'PIR33754', 'score': 0.37}]
chr2 GH02I099400 99400935 99401231 0.63 [{'connected_gene': 'ENSG00000273306', 'score': 0.77}, {'connected_gene': 'TXNDC9', 'score': 0.21}, {'connected_gene': 'EIF5B', 'score': 0.21}, {'connected_gene': 'REV1', 'score': 0.17}]