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
ENST00000242059 [[29959718, 29963731], [29966067, 29966248], [29976171, 29976337], [29980297, 29980492], [29983592, 29983795], [29994794, 29994976], [30008524, 30008684], [30029257, 30029414]] [[29963572, 29963731], [29966067, 29966248], [29976171, 29976337], [29980297, 29980492], [29983592, 29983795], [29994794, 29994976]]
ENST00000426154 [[29959719, 29963731], [29966067, 29966248], [29976171, 29976337], [29980297, 29980492], [29983592, 29983795], [29994794, 29994976], [30008524, 30008684], [30029558, 30029734]] [[29963572, 29963731], [29966067, 29966248], [29976171, 29976337], [29980297, 29980492], [29983592, 29983795], [29994794, 29994976]]
ENST00000425819 [[29963177, 29963731], [29966067, 29966248], [29976171, 29976337], [29980297, 29980492], [29983592, 29983795], [29994794, 29994976], [30029257, 30029328]] [[29963572, 29963731], [29966067, 29966248], [29976171, 29976337], [29980297, 29980492], [29983592, 29983795], [29994794, 29994931]]
ENST00000434476 [[29963472, 29963731], [29966067, 29966248], [29976171, 29976337], [29980297, 29980492], [29983592, 29983795], [29994794, 29994976], [30008524, 30008684], [30029797, 30029905]] [[29963572, 29963731], [29966067, 29966248], [29976171, 29976337], [29980297, 29980492], [29983592, 29983795], [29994794, 29994976], [30008524, 30008684], [30029797, 30029856]]
ENST00000421434 [[29980299, 29980492], [29983592, 29983795], [29994794, 29994976], [30008524, 30008684], [30029558, 30029821]] [[29980299, 29980492], [29983592, 29983795], [29994794, 29994976]]
ENST00000494620 [[29983659, 29983795], [29994794, 29994976], [30008524, 30008629], [30029558, 30029688]] None
ENST00000409570 [[29986814, 29986918], [29994794, 29994976], [30008524, 30008684], [30029257, 30029346]] [[29986836, 29986918], [29994794, 29994976]]
ENST00000409497 [[29963289, 29963731], [29966067, 29966248], [29976171, 29976337], [29980297, 29980492], [29983592, 29983795], [29994794, 29994976], [30008524, 30008887]] [[29963572, 29963731], [29966067, 29966248], [29976171, 29976337], [29980297, 29980492], [29983592, 29983795], [29994794, 29994976], [30008524, 30008683]]
ENST00000416113 [[29963404, 29963731], [29966067, 29966248], [29976171, 29976337], [29983592, 29983795], [29994794, 29994858]] [[29963572, 29963731], [29966067, 29966248], [29976171, 29976337], [29983592, 29983795], [29994794, 29994808]]
ENST00000438497 [[29983712, 29983795], [29994794, 29994976], [30008524, 30008684], [30009419, 30009554]] [[29983712, 29983795], [29994794, 29994976]]
NM_014766 [[29959718, 29963731], [29966067, 29966248], [29976171, 29976337], [29980297, 29980492], [29983592, 29983795], [29994794, 29994976], [30008524, 30008684], [30029257, 30029425]] [[29963572, 29963731], [29966067, 29966248], [29976171, 29976337], [29980297, 29980492], [29983592, 29983795], [29994794, 29994976]]
NM_001145515 [[29959718, 29963731], [29966067, 29966248], [29976171, 29976337], [29980297, 29980492], [29983592, 29983795], [29994794, 29994976], [30029257, 30029425]] [[29963572, 29963731], [29966067, 29966248], [29976171, 29976337], [29980297, 29980492], [29983592, 29983795], [29994794, 29994931]]
NM_001145513 [[29959718, 29963731], [29966067, 29966248], [29976171, 29976337], [29980297, 29980492], [29983592, 29983795], [29994794, 29994976], [30008524, 30008684], [30029558, 30029734]] [[29963572, 29963731], [29966067, 29966248], [29976171, 29976337], [29980297, 29980492], [29983592, 29983795], [29994794, 29994976]]
NM_001145514 [[29959718, 29963731], [29966067, 29966248], [29976171, 29976337], [29980297, 29980492], [29983592, 29983795], [29994794, 29994976], [30008524, 30008684], [30029797, 30029905]] [[29963572, 29963731], [29966067, 29966248], [29976171, 29976337], [29980297, 29980492], [29983592, 29983795], [29994794, 29994976], [30008524, 30008684], [30029797, 30029856]]
Promoter
Chrom Start End Description
chr7 30008849 30008863 CAGE_peak_8_at_SCRN1_5end
chr7 30009542 30009562 CAGE_peak_7_at_SCRN1_5end
chr7 30009960 30009983 CAGE_peak_5_at_SCRN1_5end
chr7 30029344 30029364 CAGE_peak_3_at_SCRN1_5end
chr7 30029367 30029474 CAGE_peak_1_at_SCRN1_5end
chr7 30029550 30029571 CAGE_peak_2_at_SCRN1_5end
chr7 30029574 30029586 CAGE_peak_4_at_SCRN1_5end
chr7 30030240 30030261 CAGE_peak_15_at_SCRN1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I029975 29975380 29975439 0.61 [{'connected_gene': 'SCRN1', 'score': 550.39}, {'connected_gene': 'PLEKHA8', 'score': 11.61}, {'connected_gene': 'FKBP14', 'score': 11.61}, {'connected_gene': 'ENSG00000238906', 'score': 10.25}, {'connected_gene': 'PIR51591', 'score': 0.44}, {'connected_gene': 'LOC105375215', 'score': 0.39}]
chr7 GH07I029956 29956064 29956600 0.91 [{'connected_gene': 'SCRN1', 'score': 12.63}, {'connected_gene': 'LOC105375215', 'score': 12.63}, {'connected_gene': 'PLEKHA8', 'score': 11.12}, {'connected_gene': 'FKBP14', 'score': 11.12}, {'connected_gene': 'ENSG00000238906', 'score': 11.02}, {'connected_gene': 'ENSG00000231519', 'score': 10.59}, {'connected_gene': 'PIR51591', 'score': 0.39}, {'connected_gene': 'PIR47202', 'score': 0.28}]
chr7 GH07I030032 30032313 30033493 0.43 [{'connected_gene': 'SCRN1', 'score': 21.97}, {'connected_gene': 'LOC105375215', 'score': 10.94}, {'connected_gene': 'ENSG00000231519', 'score': 10.94}, {'connected_gene': 'PLEKHA8', 'score': 0.44}]
chr7 GH07I030224 30224201 30227212 1.39 [{'connected_gene': 'SCRN1', 'score': 9.77}, {'connected_gene': 'LOC105375215', 'score': 9.77}, {'connected_gene': 'ZNRF2', 'score': 8.05}, {'connected_gene': 'GC07M030247', 'score': 0.34}, {'connected_gene': 'LOC105375217', 'score': 0.26}]
chr7 GH07I029932 29932205 29932354 0.76 [{'connected_gene': 'SCRN1', 'score': 10.58}, {'connected_gene': 'LOC105375215', 'score': 10.58}, {'connected_gene': 'PIR47202', 'score': 0.37}, {'connected_gene': 'PIR51591', 'score': 0.28}]
chr7 GH07I030025 30025338 30030661 2.09 [{'connected_gene': 'PLEKHA8', 'score': 567.82}, {'connected_gene': 'FKBP14', 'score': 550.77}, {'connected_gene': 'SCRN1', 'score': 22.4}, {'connected_gene': 'ENSG00000226874', 'score': 11.78}, {'connected_gene': 'ENSG00000263683', 'score': 11.74}, {'connected_gene': 'LOC105375215', 'score': 11.19}, {'connected_gene': 'DKFZP586I1420', 'score': 10.19}, {'connected_gene': 'ENSG00000231519', 'score': 0.25}]
chr7 GH07I029977 29977658 29978236 0.31 [{'connected_gene': 'PLEKHA8', 'score': 11.28}, {'connected_gene': 'FKBP14', 'score': 11.28}, {'connected_gene': 'PIR51591', 'score': 0.44}, {'connected_gene': 'LOC105375215', 'score': 0.44}, {'connected_gene': 'SCRN1', 'score': 0.39}]
chr7 GH07I030254 30254357 30256123 0.87 [{'connected_gene': 'ZNRF2', 'score': 11.91}, {'connected_gene': 'MIR550A1', 'score': 11.89}, {'connected_gene': 'NOD1', 'score': 10.27}, {'connected_gene': 'SCRN1', 'score': 9.64}, {'connected_gene': 'LOC105375215', 'score': 9.64}, {'connected_gene': 'GC07M030247', 'score': 0.44}, {'connected_gene': 'LOC105375218', 'score': 0.31}]
chr7 GH07I029976 29976271 29977200 0.69 [{'connected_gene': 'MTURN', 'score': 14.12}, {'connected_gene': 'PLEKHA8', 'score': 11.61}, {'connected_gene': 'FKBP14', 'score': 11.61}, {'connected_gene': 'ENSG00000238906', 'score': 10.25}, {'connected_gene': 'ENSG00000223813', 'score': 7.76}, {'connected_gene': 'PIR51591', 'score': 0.44}, {'connected_gene': 'SCRN1', 'score': 0.39}, {'connected_gene': 'LOC105375215', 'score': 0.39}]
chr7 GH07I030067 30067861 30069047 0.46 [{'connected_gene': 'MTURN', 'score': 13.61}, {'connected_gene': 'PLEKHA8', 'score': 10.84}, {'connected_gene': 'FKBP14', 'score': 10.84}, {'connected_gene': 'SCRN1', 'score': 10.65}, {'connected_gene': 'LOC105375215', 'score': 10.64}, {'connected_gene': 'ENSG00000231519', 'score': 0.44}]
chr7 GH07I029953 29953384 29954420 0.31 [{'connected_gene': 'LOC105375215', 'score': 12.63}, {'connected_gene': 'SCRN1', 'score': 12.61}, {'connected_gene': 'MTURN', 'score': 11.4}, {'connected_gene': 'PLEKHA8', 'score': 11.12}, {'connected_gene': 'FKBP14', 'score': 11.12}, {'connected_gene': 'ENSG00000238906', 'score': 11.02}, {'connected_gene': 'ENSG00000231519', 'score': 10.59}, {'connected_gene': 'PIR51591', 'score': 0.37}, {'connected_gene': 'PIR47202', 'score': 0.28}]
chr7 GH07I030023 30023401 30023600 0.54 [{'connected_gene': 'RPS27P16', 'score': 15.82}, {'connected_gene': 'MTURN', 'score': 14.15}, {'connected_gene': 'FKBP14', 'score': 0.77}, {'connected_gene': 'SCRN1', 'score': 0.29}, {'connected_gene': 'LOC105375215', 'score': 0.28}]
chr7 GH07I029968 29968437 29969307 0.38 [{'connected_gene': 'PIR51591', 'score': 550.77}, {'connected_gene': 'SCRN1', 'score': 12.57}, {'connected_gene': 'PLEKHA8', 'score': 11.6}, {'connected_gene': 'FKBP14', 'score': 11.6}, {'connected_gene': 'ENSG00000238906', 'score': 10.84}, {'connected_gene': 'PIR47202', 'score': 0.23}]
chr7 GH07I030038 30038305 30038454 0.31 [{'connected_gene': 'ENSG00000231519', 'score': 10.95}, {'connected_gene': 'SCRN1', 'score': 10.94}, {'connected_gene': 'LOC105375215', 'score': 10.93}, {'connected_gene': 'PLEKHA8', 'score': 0.39}]
chr7 GH07I029986 29986992 29990694 2 [{'connected_gene': 'PIR35583', 'score': 550.77}, {'connected_gene': 'SCRN1', 'score': 550.77}, {'connected_gene': 'LOC105375215', 'score': 550.77}, {'connected_gene': 'MTURN', 'score': 14.12}]
chr7 GH07I029984 29984984 29986400 0.83 [{'connected_gene': 'ENSG00000223813', 'score': 7.76}, {'connected_gene': 'SCRN1', 'score': 0.77}, {'connected_gene': 'LOC105375215', 'score': 0.77}, {'connected_gene': 'PIR51591', 'score': 0.37}]
chr7 GH07I029921 29921525 29921714 0.76 [{'connected_gene': 'PIR47202', 'score': 0.77}, {'connected_gene': 'PIR51591', 'score': 0.25}, {'connected_gene': 'SCRN1', 'score': 0.2}]