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
ENST00000535299 [[5541277, 5541508], [5615730, 5615883], [5618741, 5618998], [5621282, 5621374], [5630560, 5630702]] None
ENST00000423158 [[5541278, 5541508], [5603359, 5604465]] [[5541490, 5541508], [5603359, 5604154]]
ENST00000543548 [[5542290, 5542498], [5603359, 5603667]] None
ENST00000331010 [[5603297, 5604464]] [[5603380, 5604154]]
ENST00000544836 [[5620774, 5620890], [5621282, 5621374], [5621970, 5622242]] None
ENST00000541234 [[5620822, 5620890], [5621282, 5621374], [5622279, 5622559]] None
NM_001102654 [[5541279, 5541508], [5603359, 5604465]] [[5541490, 5541508], [5603359, 5604154]]
NM_002527 [[5603297, 5604465]] [[5603380, 5604154]]
Promoter
Chrom Start End Description
chr12 5541253 5541258 CAGE_peak_2_at_NTF3_5end
chr12 5541267 5541285 CAGE_peak_1_at_NTF3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I005461 5461170 5462059 0.43 [{'connected_gene': 'NTF3', 'score': 12.14}, {'connected_gene': 'C12orf4', 'score': 10.97}, {'connected_gene': 'GC12P005645', 'score': 0.44}, {'connected_gene': 'GC12M005446', 'score': 0.39}, {'connected_gene': 'GC12M005461', 'score': 0.39}]
chr12 GH12I005806 5806015 5810141 0.73 [{'connected_gene': 'NTF3', 'score': 9.63}, {'connected_gene': 'GC12P005823', 'score': 0.37}, {'connected_gene': 'GC12P005770', 'score': 0.28}, {'connected_gene': 'ANO2', 'score': 0.11}]
chr12 GH12I005632 5632482 5633796 0.2 [{'connected_gene': 'NTF3', 'score': 10.52}, {'connected_gene': 'GC12M005631', 'score': 0.44}, {'connected_gene': 'GC12M005594', 'score': 0.39}, {'connected_gene': 'GC12P005590', 'score': 0.26}, {'connected_gene': 'ANO2', 'score': 0.06}]
chr12 GH12I005429 5429195 5435179 2.22 [{'connected_gene': 'NTF3', 'score': 566.58}, {'connected_gene': 'LOC105369620', 'score': 550.77}, {'connected_gene': 'KCNA5', 'score': 6.34}, {'connected_gene': 'GC12M005446', 'score': 0.37}]
chr12 GH12I005185 5185039 5186400 0.2 [{'connected_gene': 'NTF3', 'score': 10.25}, {'connected_gene': 'LOC105369618', 'score': 5.94}, {'connected_gene': 'LOC105369616', 'score': 0.37}, {'connected_gene': 'GC12P005653', 'score': 0.23}, {'connected_gene': 'GC12P005649', 'score': 0.23}, {'connected_gene': 'LOC105369617', 'score': 0.21}]
chr12 GH12I005561 5561975 5562124 0.31 [{'connected_gene': 'NTF3', 'score': 10.06}, {'connected_gene': 'LOC101901829', 'score': 0.34}, {'connected_gene': 'PIR39734', 'score': 0.28}, {'connected_gene': 'ANO2', 'score': 0.05}]
chr12 GH12I005494 5494037 5494096 0.5 [{'connected_gene': 'NTF3', 'score': 550.21}, {'connected_gene': 'GC12M005501', 'score': 0.44}, {'connected_gene': 'GC12M005461', 'score': 0.37}]
chr12 GH12I005496 5496749 5501350 0.79 [{'connected_gene': 'NTF3', 'score': 11.23}, {'connected_gene': 'GC12M005501', 'score': 0.77}, {'connected_gene': 'GC12M005461', 'score': 0.34}]
chr12 GH12I005455 5455609 5458429 1.13 [{'connected_gene': 'NTF3', 'score': 13.53}, {'connected_gene': 'GC12M005446', 'score': 0.44}, {'connected_gene': 'GC12P005645', 'score': 0.39}]
chr12 GH12I005438 5438403 5439212 0.31 [{'connected_gene': 'NTF3', 'score': 0.44}, {'connected_gene': 'GC12M005446', 'score': 0.39}]
chr12 GH12I005437 5437054 5438106 0.63 [{'connected_gene': 'NTF3', 'score': 0.44}, {'connected_gene': 'GC12M005446', 'score': 0.39}]
chr12 GH12I005441 5441075 5441224 0.43 [{'connected_gene': 'KCNA5', 'score': 9.93}, {'connected_gene': 'GC12M005446', 'score': 0.44}, {'connected_gene': 'NTF3', 'score': 0.44}]
chr12 GH12I005442 5441595 5441744 0.43 [{'connected_gene': 'KCNA5', 'score': 9.93}, {'connected_gene': 'GC12M005446', 'score': 0.44}, {'connected_gene': 'NTF3', 'score': 0.44}]
chr12 GH12I004537 4537489 4540504 2.06 [{'connected_gene': 'RAD51AP1', 'score': 550.77}, {'connected_gene': 'C12orf4', 'score': 550.77}, {'connected_gene': 'NTF3', 'score': 11.27}, {'connected_gene': 'GC12M004550', 'score': 0.39}]
chr12 GH12I005166 5166595 5167701 0.69 [{'connected_gene': 'LOC105369618', 'score': 11.66}, {'connected_gene': 'NTF3', 'score': 10.46}, {'connected_gene': 'LOC105369616', 'score': 0.29}, {'connected_gene': 'GC12P005653', 'score': 0.29}, {'connected_gene': 'GC12P005649', 'score': 0.29}, {'connected_gene': 'LOC105369617', 'score': 0.26}]
chr12 GH12I006166 6166153 6170026 1.71 [{'connected_gene': 'PIR38862', 'score': 550.77}, {'connected_gene': 'CD9', 'score': 19.83}, {'connected_gene': 'VWF', 'score': 11.77}, {'connected_gene': 'ATN1', 'score': 11.08}, {'connected_gene': 'NTF3', 'score': 10.88}, {'connected_gene': 'TNFRSF1A', 'score': 2.37}, {'connected_gene': 'TAPBPL', 'score': 1.45}, {'connected_gene': 'VAMP1', 'score': 1.34}, {'connected_gene': 'PIR39839', 'score': 0.44}, {'connected_gene': 'LOC105369623', 'score': 0.39}]
chr12 GH12I005505 5505485 5506229 0.31 [{'connected_gene': 'GC12M005501', 'score': 0.77}, {'connected_gene': 'PIR39734', 'score': 0.37}, {'connected_gene': 'NTF3', 'score': 0.19}]
chr12 GH12I005487 5487309 5490609 0.31 [{'connected_gene': 'ENSG00000256654', 'score': 5.35}, {'connected_gene': 'GC12M005501', 'score': 0.39}, {'connected_gene': 'GC12M005461', 'score': 0.39}, {'connected_gene': 'NTF3', 'score': 0.22}]
chr12 GH12I005465 5465473 5466684 0.31 [{'connected_gene': 'GC12P005645', 'score': 0.77}, {'connected_gene': 'GC12M005461', 'score': 0.39}, {'connected_gene': 'GC12M005446', 'score': 0.37}, {'connected_gene': 'NTF3', 'score': 0.29}]
chr12 GH12I005479 5479723 5481487 0.78 [{'connected_gene': 'GC12M005461', 'score': 0.77}, {'connected_gene': 'GC12M005501', 'score': 0.34}, {'connected_gene': 'NTF3', 'score': 0.25}]
chr12 GH12I005503 5503335 5504556 0.63 [{'connected_gene': 'GC12M005501', 'score': 0.77}, {'connected_gene': 'PIR39734', 'score': 0.37}, {'connected_gene': 'NTF3', 'score': 0.19}]
chr12 GH12I005511 5511405 5512959 0.72 [{'connected_gene': 'GC12M005501', 'score': 0.39}, {'connected_gene': 'PIR39734', 'score': 0.39}, {'connected_gene': 'NTF3', 'score': 0.18}]
chr12 GH12I005448 5448983 5449885 0.2 [{'connected_gene': 'GC12M005446', 'score': 550.77}, {'connected_gene': 'KCNA5', 'score': 10.21}, {'connected_gene': 'NTF3', 'score': 0.37}]