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
ENST00000267750 [[34517199, 34517401], [34517736, 34517851], [34519893, 34520047], [34520629, 34520790], [34521953, 34522357]] [[34517315, 34517401], [34517736, 34517851], [34519893, 34520047], [34520629, 34520790], [34521953, 34521989]]
ENST00000249209 [[34517213, 34517401], [34517736, 34517851], [34519893, 34520047], [34521953, 34522348]] [[34517315, 34517401], [34517736, 34517851], [34519893, 34520047], [34521953, 34522048]]
ENST00000560911 [[34517218, 34517401], [34517764, 34517851], [34519893, 34520047], [34520629, 34520784]] [[34517315, 34517401], [34517764, 34517851], [34519893, 34519939]]
ENST00000557941 [[34517219, 34517401], [34517736, 34518755]] None
ENST00000561372 [[34517225, 34517401], [34517715, 34517851], [34519893, 34520047]] [[34517315, 34517401], [34517715, 34517851], [34519893, 34520047]]
ENST00000559078 [[34517236, 34517401], [34517736, 34517851], [34519893, 34519995], [34521166, 34521383]] [[34517315, 34517401], [34517736, 34517851], [34519893, 34519995], [34521166, 34521172]]
ENST00000558205 [[34517237, 34517401], [34517736, 34517859], [34519893, 34520047], [34520629, 34520790], [34521953, 34522357]] [[34517315, 34517401], [34517736, 34517859], [34519893, 34519939]]
ENST00000557879 [[34517238, 34517401], [34517736, 34517859], [34520319, 34521042]] [[34517315, 34517401], [34517736, 34517859], [34520319, 34520329]]
ENST00000558102 [[34517240, 34517401], [34519893, 34520047], [34521953, 34522181]] [[34517315, 34517401], [34519893, 34519939]]
ENST00000559421 [[34517266, 34517401], [34517736, 34517851], [34521953, 34522200]] [[34517315, 34517401], [34517736, 34517851], [34521953, 34521989]]
ENST00000558810 [[34517362, 34517401], [34517736, 34517851], [34519893, 34520391]] None
ENST00000561246 [[34518712, 34520025], [34521644, 34522350]] None
ENST00000560947 [[34519895, 34520047], [34520637, 34520790], [34521953, 34522357]] [[34519895, 34520047], [34520637, 34520780]]
NM_001286420 [[34517197, 34517401], [34517736, 34517851], [34519893, 34520047], [34521953, 34522366]] [[34517315, 34517401], [34517736, 34517851], [34519893, 34520047], [34521953, 34522048]]
NM_016454 [[34517197, 34517401], [34517736, 34517851], [34519893, 34520047], [34520629, 34520790], [34521953, 34522366]] [[34517315, 34517401], [34517736, 34517851], [34519893, 34520047], [34520629, 34520790], [34521953, 34521989]]
Promoter
Chrom Start End Description
chr15 34517194 34517246 CAGE_peak_1_at_TMEM85_5end
chr15 34517251 34517276 CAGE_peak_2_at_TMEM85_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I034317 34316852 34320744 2.15 [{'connected_gene': 'SLC12A6', 'score': 568.43}, {'connected_gene': 'NOP10', 'score': 60.71}, {'connected_gene': 'GOLGA8A', 'score': 13.04}, {'connected_gene': 'AQR', 'score': 12.82}, {'connected_gene': 'ENSG00000259287', 'score': 11.81}, {'connected_gene': 'LOC101929988', 'score': 10.85}, {'connected_gene': 'EMC4', 'score': 8.82}, {'connected_gene': 'ENSG00000207091', 'score': 0.77}]
chr15 GH15I034055 34055217 34057854 0.58 [{'connected_gene': 'AVEN', 'score': 12.37}, {'connected_gene': 'KATNBL1', 'score': 11.74}, {'connected_gene': 'EMC4', 'score': 10.94}, {'connected_gene': 'GC15M034069', 'score': 0.39}, {'connected_gene': 'ENSG00000259505', 'score': 0.2}, {'connected_gene': 'CHRM5', 'score': 0.17}]
chr15 GH15I034303 34303082 34307325 0.54 [{'connected_gene': 'NOP10', 'score': 30.71}, {'connected_gene': 'SLC12A6', 'score': 30.2}, {'connected_gene': 'NUTM1', 'score': 11.88}, {'connected_gene': 'KATNBL1', 'score': 10.7}, {'connected_gene': 'EMC4', 'score': 10.64}, {'connected_gene': 'GC15P034315', 'score': 0.44}, {'connected_gene': 'ENSG00000259468', 'score': 0.25}]
chr15 GH15I034246 34246018 34247411 0.38 [{'connected_gene': 'NOP10', 'score': 51.16}, {'connected_gene': 'SLC12A6', 'score': 11.89}, {'connected_gene': 'NUTM1', 'score': 11.88}, {'connected_gene': 'LPCAT4', 'score': 11.67}, {'connected_gene': 'KATNBL1', 'score': 11.64}, {'connected_gene': 'GOLGA8B', 'score': 4.39}, {'connected_gene': 'ENSG00000259468', 'score': 0.44}, {'connected_gene': 'EMC4', 'score': 0.34}]
chr15 GH15I034238 34238054 34242346 0.89 [{'connected_gene': 'NOP10', 'score': 37.71}, {'connected_gene': 'KATNBL1', 'score': 11.66}, {'connected_gene': 'SLC12A6', 'score': 11.5}, {'connected_gene': 'NUTM1', 'score': 11.5}, {'connected_gene': 'EMC4', 'score': 0.37}, {'connected_gene': 'ENSG00000259468', 'score': 0.37}]
chr15 GH15I034217 34217538 34218329 0.65 [{'connected_gene': 'NOP10', 'score': 12.84}, {'connected_gene': 'KATNBL1', 'score': 7.57}, {'connected_gene': 'EMC4', 'score': 0.44}]
chr15 GH15I034213 34213720 34215072 0.43 [{'connected_gene': 'NOP10', 'score': 32.47}, {'connected_gene': 'KATNBL1', 'score': 7.63}, {'connected_gene': 'EMC4', 'score': 0.39}]
chr15 GH15I034223 34223673 34226135 2.08 [{'connected_gene': 'EMC4', 'score': 550.77}, {'connected_gene': 'NOP10', 'score': 46.59}, {'connected_gene': 'AQR', 'score': 29.31}, {'connected_gene': 'HNRNPLP2', 'score': 24.12}, {'connected_gene': 'NUTM1', 'score': 21.32}, {'connected_gene': 'SLC12A6', 'score': 11.03}, {'connected_gene': 'KATNBL1', 'score': 4.81}]
chr15 GH15I034435 34435911 34438351 1.42 [{'connected_gene': 'GOLGA8A', 'score': 575.17}, {'connected_gene': 'ACTG1P15', 'score': 9.71}, {'connected_gene': 'FSCN1P1', 'score': 5.2}, {'connected_gene': 'EMC4', 'score': 5.0}, {'connected_gene': 'ENSG00000279092', 'score': 0.37}]
chr15 GH15I034100 34100408 34103037 2.05 [{'connected_gene': 'PGBD4', 'score': 557.14}, {'connected_gene': 'EMC7', 'score': 550.77}, {'connected_gene': 'AVEN', 'score': 20.26}, {'connected_gene': 'KATNBL1', 'score': 11.05}, {'connected_gene': 'HNRNPLP2', 'score': 11.04}, {'connected_gene': 'EMC4', 'score': 10.73}, {'connected_gene': 'RPL32P2', 'score': 0.37}]