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
ENST00000264870 [[6144317, 6146005], [6152045, 6152182], [6167690, 6167851], [6174812, 6175100], [6182220, 6182374], [6196029, 6196118], [6197455, 6197559], [6222265, 6222404], [6224918, 6225093], [6248544, 6248652], [6251043, 6251162], [6266790, 6267042], [6305583, 6305772], [6318767, 6318915], [6320819, 6321067]] [[6145851, 6146005], [6152045, 6152182], [6167690, 6167851], [6174812, 6175100], [6182220, 6182374], [6196029, 6196118], [6197455, 6197559], [6222265, 6222404], [6224918, 6225093], [6248544, 6248652], [6251043, 6251162], [6266790, 6267042], [6305583, 6305772], [6318767, 6318897]]
ENST00000479211 [[6251139, 6251162], [6266790, 6267042], [6305583, 6305887]] None
ENST00000414279 [[6266945, 6267042], [6305583, 6305772], [6318767, 6318915], [6320819, 6320892], [6321171, 6321246]] [[6266945, 6267042], [6305583, 6305772], [6318767, 6318897]]
ENST00000431222 [[6266966, 6267042], [6305583, 6305772], [6318767, 6318915], [6320819, 6320892], [6321032, 6321138]] [[6266966, 6267042], [6305583, 6305772], [6318767, 6318915], [6320819, 6320892], [6321032, 6321103]]
ENST00000445223 [[6206643, 6206835], [6222265, 6222404], [6224918, 6225041]] [[6206789, 6206835], [6222265, 6222404], [6224918, 6225041]]
ENST00000451619 [[6305345, 6305772], [6318767, 6318915], [6320819, 6320875]] [[6305533, 6305772], [6318767, 6318915], [6320819, 6320875]]
NM_000129 [[6144310, 6146005], [6152045, 6152182], [6167690, 6167851], [6174812, 6175100], [6182220, 6182374], [6196029, 6196118], [6197455, 6197559], [6222265, 6222404], [6224918, 6225093], [6248544, 6248652], [6251043, 6251162], [6266790, 6267042], [6305583, 6305772], [6318767, 6318915], [6320819, 6320924]] [[6145851, 6146005], [6152045, 6152182], [6167690, 6167851], [6174812, 6175100], [6182220, 6182374], [6196029, 6196118], [6197455, 6197559], [6222265, 6222404], [6224918, 6225093], [6248544, 6248652], [6251043, 6251162], [6266790, 6267042], [6305583, 6305772], [6318767, 6318897]]
Promoter
Chrom Start End Description
chr6 6222293 6222308 CAGE_peak_4_at_F13A1_5end
chr6 6318851 6318869 CAGE_peak_2_at_F13A1_5end
chr6 6320887 6320902 CAGE_peak_1_at_F13A1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I006849 6849503 6852301 1.57 [{'connected_gene': 'RIOK1', 'score': 13.87}, {'connected_gene': 'RREB1', 'score': 13.79}, {'connected_gene': 'SNRNP48', 'score': 12.11}, {'connected_gene': 'ENSG00000225092', 'score': 11.16}, {'connected_gene': 'F13A1', 'score': 10.94}, {'connected_gene': 'GC06M006870', 'score': 0.34}, {'connected_gene': 'GC06M006819', 'score': 0.31}]
chr6 GH06I006545 6545700 6547889 1.06 [{'connected_gene': 'NRN1', 'score': 11.32}, {'connected_gene': 'F13A1', 'score': 10.32}, {'connected_gene': 'LY86', 'score': 5.47}, {'connected_gene': 'GC06P006543', 'score': 0.77}, {'connected_gene': 'GC06M006539', 'score': 0.77}, {'connected_gene': 'LY86-AS1', 'score': 0.18}]
chr6 GH06I006469 6469164 6469418 0.63 [{'connected_gene': 'F13A1', 'score': 10.63}, {'connected_gene': 'LY86', 'score': 2.83}, {'connected_gene': 'GC06M006465', 'score': 0.77}, {'connected_gene': 'GC06P006509', 'score': 0.28}, {'connected_gene': 'LY86-AS1', 'score': 0.1}]
chr6 GH06I006406 6406304 6408285 1.08 [{'connected_gene': 'F13A1', 'score': 10.54}, {'connected_gene': 'LY86', 'score': 3.72}, {'connected_gene': 'GC06P006393', 'score': 0.39}, {'connected_gene': 'GC06P006434', 'score': 0.31}, {'connected_gene': 'LY86-AS1', 'score': 0.08}]
chr6 GH06I006314 6314580 6314877 0.33 [{'connected_gene': 'F13A1', 'score': 4.79}, {'connected_gene': 'LY86', 'score': 2.48}, {'connected_gene': 'GC06M006300', 'score': 0.39}]
chr6 GH06I006151 6151273 6151560 0.22 [{'connected_gene': 'F13A1', 'score': 14.27}, {'connected_gene': 'RREB1', 'score': 4.9}, {'connected_gene': 'MIR5683', 'score': 0.37}, {'connected_gene': 'GC06P006126', 'score': 0.34}]
chr6 GH06I006436 6436756 6437514 0.31 [{'connected_gene': 'F13A1', 'score': 10.4}, {'connected_gene': 'GC06P006434', 'score': 0.77}, {'connected_gene': 'GC06M006452', 'score': 0.39}, {'connected_gene': 'LY86-AS1', 'score': 0.09}]
chr6 GH06I006459 6459904 6459914 0.22 [{'connected_gene': 'F13A1', 'score': 10.54}, {'connected_gene': 'GC06M006465', 'score': 0.44}, {'connected_gene': 'GC06M006451', 'score': 0.44}, {'connected_gene': 'GC06P006434', 'score': 0.31}, {'connected_gene': 'LY86-AS1', 'score': 0.1}]
chr6 GH06I006483 6483315 6483707 0.44 [{'connected_gene': 'F13A1', 'score': 10.68}, {'connected_gene': 'GC06M006465', 'score': 0.37}, {'connected_gene': 'GC06P006509', 'score': 0.31}, {'connected_gene': 'LY86-AS1', 'score': 0.12}]
chr6 GH06I006460 6460637 6462314 0.52 [{'connected_gene': 'F13A1', 'score': 10.53}, {'connected_gene': 'GC06M006465', 'score': 0.77}, {'connected_gene': 'GC06M006451', 'score': 0.44}, {'connected_gene': 'LY86-AS1', 'score': 0.1}]
chr6 GH06I006395 6395814 6396400 0.57 [{'connected_gene': 'F13A1', 'score': 11.22}, {'connected_gene': 'GC06P006393', 'score': 0.77}, {'connected_gene': 'GC06P006434', 'score': 0.28}, {'connected_gene': 'LY86-AS1', 'score': 0.07}]
chr6 GH06I005723 5723299 5724915 1.49 [{'connected_gene': 'F13A1', 'score': 8.85}, {'connected_gene': 'LOC101927972', 'score': 4.88}, {'connected_gene': 'GC06M005726', 'score': 0.77}, {'connected_gene': 'GC06M005708', 'score': 0.44}, {'connected_gene': 'GC06P005718', 'score': 0.44}, {'connected_gene': 'FARS2', 'score': 0.04}]
chr6 GH06I006164 6164183 6164531 0.35 [{'connected_gene': 'F13A1', 'score': 2.5}, {'connected_gene': 'MIR5683', 'score': 0.77}, {'connected_gene': 'GC06P006126', 'score': 0.28}]
chr6 GH06I006351 6351398 6352020 0.2 [{'connected_gene': 'F13A1', 'score': 11.84}, {'connected_gene': 'SNAPC5P1', 'score': 0.77}, {'connected_gene': 'GC06M006365', 'score': 0.31}, {'connected_gene': 'LY86-AS1', 'score': 0.06}]
chr6 GH06I006349 6349344 6350590 0.2 [{'connected_gene': 'F13A1', 'score': 11.86}, {'connected_gene': 'SNAPC5P1', 'score': 0.77}, {'connected_gene': 'GC06M006365', 'score': 0.31}, {'connected_gene': 'LY86-AS1', 'score': 0.06}]
chr6 GH06I006243 6243762 6244559 0.2 [{'connected_gene': 'F13A1', 'score': 10.65}, {'connected_gene': 'GC06P006237', 'score': 0.44}, {'connected_gene': 'GC06P006275', 'score': 0.29}]
chr6 GH06I006319 6319201 6321384 1.42 [{'connected_gene': 'F13A1', 'score': 556.82}, {'connected_gene': 'GC06M006300', 'score': 0.37}]
chr6 GH06I006318 6318001 6318600 0.2 [{'connected_gene': 'F13A1', 'score': 0.77}, {'connected_gene': 'GC06M006300', 'score': 0.37}]
chr6 GH06I006330 6330854 6333000 1.19 [{'connected_gene': 'F13A1', 'score': 6.15}, {'connected_gene': 'GC06M006328', 'score': 0.39}]
chr6 GH06I006346 6346320 6349291 0.31 [{'connected_gene': 'SNAPC5P1', 'score': 550.77}, {'connected_gene': 'F13A1', 'score': 12.32}, {'connected_gene': 'LY86', 'score': 5.23}, {'connected_gene': 'GC06M006365', 'score': 0.29}, {'connected_gene': 'LY86-AS1', 'score': 0.06}]
chr6 GH06I006542 6542825 6544214 0.64 [{'connected_gene': 'GC06P006543', 'score': 550.77}, {'connected_gene': 'GC06M006539', 'score': 550.77}, {'connected_gene': 'NRN1', 'score': 11.32}, {'connected_gene': 'F13A1', 'score': 10.32}, {'connected_gene': 'LY86', 'score': 5.22}, {'connected_gene': 'LY86-AS1', 'score': 0.18}]
chr6 GH06I006467 6467428 6467621 0.79 [{'connected_gene': 'GC06M006465', 'score': 550.77}, {'connected_gene': 'F13A1', 'score': 10.63}, {'connected_gene': 'NRN1', 'score': 7.65}, {'connected_gene': 'GC06P006509', 'score': 0.26}, {'connected_gene': 'LY86-AS1', 'score': 0.1}]
chr6 GH06I006515 6515708 6516473 0.75 [{'connected_gene': 'GC06P006517', 'score': 550.77}, {'connected_gene': 'F13A1', 'score': 10.44}, {'connected_gene': 'NRN1', 'score': 10.37}, {'connected_gene': 'ENSG00000261211', 'score': 5.41}, {'connected_gene': 'GC06P006509', 'score': 0.44}, {'connected_gene': 'LY86-AS1', 'score': 0.14}]
chr6 GH06I006396 6395601 6395800 0.52 [{'connected_gene': 'GC06P006393', 'score': 550.77}, {'connected_gene': 'F13A1', 'score': 11.23}, {'connected_gene': 'GC06P006434', 'score': 0.28}, {'connected_gene': 'LY86-AS1', 'score': 0.07}]
chr6 GH06I006379 6379688 6379837 0.52 [{'connected_gene': 'GC06M006365', 'score': 550.77}, {'connected_gene': 'F13A1', 'score': 10.55}, {'connected_gene': 'GC06P006385', 'score': 0.44}, {'connected_gene': 'LY86-AS1', 'score': 0.07}]
chr6 GH06I006390 6390519 6393492 1.23 [{'connected_gene': 'GC06P006393', 'score': 550.77}, {'connected_gene': 'GC06M006393', 'score': 550.77}, {'connected_gene': 'F13A1', 'score': 19.24}, {'connected_gene': 'GC06P006385', 'score': 0.44}, {'connected_gene': 'LY86-AS1', 'score': 0.07}]
chr6 GH06I006385 6385978 6387000 0.2 [{'connected_gene': 'GC06P006385', 'score': 550.77}, {'connected_gene': 'F13A1', 'score': 11.0}, {'connected_gene': 'GC06M006393', 'score': 0.44}, {'connected_gene': 'LY86-AS1', 'score': 0.07}]
chr6 GH06I005718 5718028 5720948 0.2 [{'connected_gene': 'GC06P005718', 'score': 550.77}, {'connected_gene': 'F13A1', 'score': 8.85}, {'connected_gene': 'GC06M005726', 'score': 0.44}, {'connected_gene': 'GC06M005708', 'score': 0.39}, {'connected_gene': 'FARS2', 'score': 0.05}]