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
ENST00000272238 [[10861774, 10861857], [10862949, 10863104], [10866627, 10866695], [10894106, 10894192], [10904456, 10904551], [10908844, 10908936], [10911964, 10912063], [10912667, 10912736], [10914913, 10915006], [10915103, 10915197], [10917710, 10917848], [10918697, 10918795], [10922368, 10922501], [10923299, 10923561]] [[10862975, 10863104], [10866627, 10866695], [10894106, 10894192], [10904456, 10904551], [10908844, 10908936], [10911964, 10912063], [10912667, 10912736], [10914913, 10915006], [10915103, 10915197], [10917710, 10917848], [10918697, 10918795], [10922368, 10922501], [10923299, 10923389]]
ENST00000381661 [[10861774, 10861857], [10862949, 10863104], [10866627, 10866695], [10894106, 10894192], [10904456, 10904551], [10908844, 10908936], [10911964, 10912063], [10912667, 10912736], [10914913, 10915006], [10915103, 10915197], [10918697, 10918795], [10922368, 10922501], [10923299, 10925236]] [[10862975, 10863104], [10866627, 10866695], [10894106, 10894192], [10904456, 10904551], [10908844, 10908936], [10911964, 10912063], [10912667, 10912736], [10914913, 10915006], [10915103, 10915197], [10918697, 10918795], [10922368, 10922501], [10923299, 10923389]]
ENST00000480289 [[10918613, 10918795], [10922368, 10922501], [10923299, 10923369]] None
NM_144583 [[10861774, 10861857], [10862949, 10863104], [10866627, 10866695], [10894106, 10894192], [10904456, 10904551], [10908844, 10908936], [10911964, 10912063], [10912667, 10912736], [10914913, 10915006], [10915103, 10915197], [10918697, 10918795], [10922368, 10922501], [10923299, 10925236]] [[10862975, 10863104], [10866627, 10866695], [10894106, 10894192], [10904456, 10904551], [10908844, 10908936], [10911964, 10912063], [10912667, 10912736], [10914913, 10915006], [10915103, 10915197], [10918697, 10918795], [10922368, 10922501], [10923299, 10923389]]
NM_001039362 [[10861774, 10861857], [10862949, 10863104], [10866627, 10866695], [10894106, 10894192], [10904456, 10904551], [10908844, 10908936], [10911964, 10912063], [10912667, 10912736], [10914913, 10915006], [10915103, 10915197], [10917710, 10917848], [10918697, 10918795], [10922368, 10922501], [10923299, 10925236]] [[10862975, 10863104], [10866627, 10866695], [10894106, 10894192], [10904456, 10904551], [10908844, 10908936], [10911964, 10912063], [10912667, 10912736], [10914913, 10915006], [10915103, 10915197], [10917710, 10917848], [10918697, 10918795], [10922368, 10922501], [10923299, 10923389]]
Promoter
Chrom Start End Description
chr2 10861749 10861762 CAGE_peak_1_at_ATP6V1C2_5end
chr2 10861777 10861786 CAGE_peak_2_at_ATP6V1C2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I010721 10721581 10721640 0.82 [{'connected_gene': 'ATP6V1C2', 'score': 550.77}, {'connected_gene': 'RNU7-138P', 'score': 0.34}]
chr2 GH02I010759 10757395 10757544 0.64 [{'connected_gene': 'ATP6V1C2', 'score': 8.28}, {'connected_gene': 'GC02P010745', 'score': 0.39}, {'connected_gene': 'LOC105373428', 'score': 0.37}]
chr2 GH02I010737 10737554 10738995 0.62 [{'connected_gene': 'RNU7-138P', 'score': 0.44}, {'connected_gene': 'ATP6V1C2', 'score': 0.37}]
chr2 GH02I010761 10761750 10762054 0.31 [{'connected_gene': 'LOC105373428', 'score': 5.51}, {'connected_gene': 'GC02P010745', 'score': 0.37}, {'connected_gene': 'ATP6V1C2', 'score': 0.26}]
chr2 GH02I010758 10758942 10759388 0.31 [{'connected_gene': 'LOC105373428', 'score': 6.57}, {'connected_gene': 'GC02P010745', 'score': 0.39}, {'connected_gene': 'ATP6V1C2', 'score': 0.28}]
chr2 GH02I010757 10757569 10758563 0.75 [{'connected_gene': 'LOC105373428', 'score': 6.08}, {'connected_gene': 'GC02P010745', 'score': 0.39}, {'connected_gene': 'ATP6V1C2', 'score': 0.28}]
chr2 GH02I010790 10790202 10791472 0.31 [{'connected_gene': 'LOC105373428', 'score': 15.67}, {'connected_gene': 'RNU7-176P', 'score': 11.72}, {'connected_gene': 'PDIA6', 'score': 11.63}, {'connected_gene': 'ATP6V1C2', 'score': 9.68}]
chr2 GH02I010764 10764772 10765992 0.31 [{'connected_gene': 'LOC105373428', 'score': 11.96}, {'connected_gene': 'RNU7-138P', 'score': 11.85}, {'connected_gene': 'GC02P010745', 'score': 0.34}, {'connected_gene': 'ATP6V1C2', 'score': 0.26}]
chr2 GH02I010772 10772748 10776268 0.79 [{'connected_gene': 'LOC105373428', 'score': 565.24}, {'connected_gene': 'PDIA6', 'score': 17.6}, {'connected_gene': 'RNU7-176P', 'score': 11.33}, {'connected_gene': 'ATP6V1C2', 'score': 10.14}]
chr2 GH02I010809 10809813 10813600 2.01 [{'connected_gene': 'PDIA6', 'score': 556.64}, {'connected_gene': 'NOL10', 'score': 11.46}, {'connected_gene': 'ATP6V1C2', 'score': 11.4}, {'connected_gene': 'LOC101929882', 'score': 10.61}, {'connected_gene': 'LOC105373428', 'score': 6.08}, {'connected_gene': 'RNU7-176P', 'score': 0.77}]
chr2 GH02I010745 10745151 10746310 0.97 [{'connected_gene': 'GC02P010745', 'score': 550.77}, {'connected_gene': 'RNU7-138P', 'score': 550.77}, {'connected_gene': 'ATP6V1C2', 'score': 7.5}, {'connected_gene': 'LOC105373428', 'score': 0.31}]
chr2 GH02I010717 10717294 10718421 0.52 [{'connected_gene': 'ENSG00000236162', 'score': 550.77}, {'connected_gene': 'RN7SL832P', 'score': 7.78}, {'connected_gene': 'ATP6V1C2', 'score': 0.77}]
chr2 GH02I010753 10753235 10753431 0.31 [{'connected_gene': 'GC02P010745', 'score': 0.44}, {'connected_gene': 'LOC105373428', 'score': 0.37}, {'connected_gene': 'ATP6V1C2', 'score': 0.29}]
chr2 GH02I010752 10752435 10752584 0.52 [{'connected_gene': 'GC02P010745', 'score': 0.44}, {'connected_gene': 'LOC105373428', 'score': 0.34}, {'connected_gene': 'ATP6V1C2', 'score': 0.29}]