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
NM_032102 [[94800040, 94800901], [94800903, 94804387]] [[94800390, 94800901], [94800903, 94801238]]
NR_103726 [[94800040, 94801346], [94801817, 94804387]] None
Promoter
Chrom Start End Description
chr11 94800972 94801064 CAGE_peak_3_at_SRSF8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I095088 95088429 95091308 2.13 [{'connected_gene': 'ENDOD1', 'score': 558.47}, {'connected_gene': 'GC11P095088', 'score': 550.77}, {'connected_gene': 'SRSF8', 'score': 17.07}, {'connected_gene': 'LOC101929295', 'score': 11.03}, {'connected_gene': 'KDM4E', 'score': 9.77}, {'connected_gene': 'GC11P095093', 'score': 0.77}, {'connected_gene': 'GC11M095076', 'score': 0.39}]
chr11 GH11I095133 95133070 95135995 1.02 [{'connected_gene': 'ENDOD1', 'score': 23.8}, {'connected_gene': 'BUD13P1', 'score': 15.6}, {'connected_gene': 'ENSG00000270578', 'score': 13.63}, {'connected_gene': 'CWC15', 'score': 10.44}, {'connected_gene': 'KDM4D', 'score': 10.44}, {'connected_gene': 'KDM4E', 'score': 9.76}, {'connected_gene': 'SRSF8', 'score': 4.99}, {'connected_gene': 'LOC105369435', 'score': 4.66}, {'connected_gene': 'GC11P095138', 'score': 0.77}, {'connected_gene': 'GC11M095076', 'score': 0.29}]
chr11 GH11I095066 95066276 95069947 2.28 [{'connected_gene': 'SRSF8', 'score': 563.59}, {'connected_gene': 'GC11P095067', 'score': 550.77}, {'connected_gene': 'GC11M095066', 'score': 550.77}, {'connected_gene': 'ENDOD1', 'score': 17.07}, {'connected_gene': 'LOC101929295', 'score': 11.86}, {'connected_gene': 'KDM4E', 'score': 10.68}, {'connected_gene': 'CWC15', 'score': 10.61}, {'connected_gene': 'KDM4D', 'score': 10.61}, {'connected_gene': 'MTMR2', 'score': 10.42}, {'connected_gene': 'GC11P095083', 'score': 0.37}]
chr11 GH11I095077 95077821 95079302 0.31 [{'connected_gene': 'SRSF8', 'score': 12.78}, {'connected_gene': 'ENDOD1', 'score': 11.79}, {'connected_gene': 'LOC101929295', 'score': 11.63}, {'connected_gene': 'GC11P095083', 'score': 0.77}, {'connected_gene': 'GC11P095067', 'score': 0.39}, {'connected_gene': 'GC11M095076', 'score': 0.34}]
chr11 GH11I095085 95085954 95086553 0.56 [{'connected_gene': 'SRSF8', 'score': 17.36}, {'connected_gene': 'ENDOD1', 'score': 6.05}, {'connected_gene': 'GC11P095088', 'score': 0.77}, {'connected_gene': 'GC11P095083', 'score': 0.77}, {'connected_gene': 'GC11M095076', 'score': 0.37}]
chr11 GH11I095074 95074517 95075493 1.04 [{'connected_gene': 'SRSF8', 'score': 14.45}, {'connected_gene': 'LOC101929295', 'score': 11.62}, {'connected_gene': 'ENDOD1', 'score': 5.67}, {'connected_gene': 'GC11P095067', 'score': 0.44}, {'connected_gene': 'GC11P095083', 'score': 0.44}]
chr11 GH11I095080 95080052 95080870 0.2 [{'connected_gene': 'SRSF8', 'score': 12.32}, {'connected_gene': 'LOC101929295', 'score': 11.63}, {'connected_gene': 'ENDOD1', 'score': 8.77}, {'connected_gene': 'GC11P095083', 'score': 0.77}, {'connected_gene': 'GC11P095067', 'score': 0.39}, {'connected_gene': 'GC11M095076', 'score': 0.34}]
chr11 GH11I095146 95146608 95154450 2.25 [{'connected_gene': 'LOC101929295', 'score': 556.79}, {'connected_gene': 'CEP57', 'score': 20.31}, {'connected_gene': 'FAM76B', 'score': 16.44}, {'connected_gene': 'FGFR3P2', 'score': 15.64}, {'connected_gene': 'SESN3', 'score': 15.61}, {'connected_gene': 'ANKRD49', 'score': 13.94}, {'connected_gene': 'MRE11', 'score': 12.94}, {'connected_gene': 'SRSF8', 'score': 7.48}, {'connected_gene': 'ENDOD1', 'score': 6.65}, {'connected_gene': 'LOC105369435', 'score': 5.31}, {'connected_gene': 'CWC15', 'score': 1.93}, {'connected_gene': 'KDM4E', 'score': 1.7}, {'connected_gene': 'ENSG00000270578', 'score': 0.44}]
chr11 GH11I095103 95102917 95105789 0.72 [{'connected_gene': 'LOC101929295', 'score': 11.17}, {'connected_gene': 'KDM4E', 'score': 10.27}, {'connected_gene': 'CWC15', 'score': 9.3}, {'connected_gene': 'KDM4D', 'score': 9.3}, {'connected_gene': 'SRSF8', 'score': 6.8}, {'connected_gene': 'ENDOD1', 'score': 4.81}, {'connected_gene': 'GC11M095076', 'score': 0.77}, {'connected_gene': 'GC11P095138', 'score': 0.29}]
chr11 GH11I095100 95100817 95102538 0.76 [{'connected_gene': 'GC11M095076', 'score': 550.77}, {'connected_gene': 'ENDOD1', 'score': 12.63}, {'connected_gene': 'LOC101929295', 'score': 11.02}, {'connected_gene': 'SRSF8', 'score': 5.38}, {'connected_gene': 'GC11P095093', 'score': 0.44}]
chr11 GH11I095555 95555613 95557179 0.96 [{'connected_gene': 'GC11M095547', 'score': 550.77}, {'connected_gene': 'SESN3', 'score': 10.08}, {'connected_gene': 'LOC101929295', 'score': 10.07}, {'connected_gene': 'SRSF8', 'score': 4.8}, {'connected_gene': 'GC11M095524', 'score': 0.29}]
chr11 GH11I095084 95084562 95085822 0.65 [{'connected_gene': 'GC11P095083', 'score': 550.77}, {'connected_gene': 'SRSF8', 'score': 17.59}, {'connected_gene': 'ENDOD1', 'score': 7.45}, {'connected_gene': 'GC11P095088', 'score': 0.77}, {'connected_gene': 'GC11M095076', 'score': 0.37}]
chr11 GH11I095091 95091362 95094060 1.45 [{'connected_gene': 'GC11P095093', 'score': 550.77}, {'connected_gene': 'LOC101929295', 'score': 11.04}, {'connected_gene': 'KDM4E', 'score': 9.77}, {'connected_gene': 'ENDOD1', 'score': 8.46}, {'connected_gene': 'SRSF8', 'score': 7.01}, {'connected_gene': 'GC11M095076', 'score': 0.44}]