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
ENST00000375375 [[18957499, 18958182], [18960796, 18961032], [18961604, 18961734], [18962730, 18962865], [19018247, 19018447], [19027146, 19027312], [19029587, 19029790], [19062125, 19062632]] [[18958097, 18958182], [18960796, 18961032], [18961604, 18961734], [18962730, 18962865], [19018247, 19018447], [19027146, 19027312], [19029587, 19029790], [19062125, 19062533]]
ENST00000420770 [[18958014, 18958182], [18960796, 18961032], [18961604, 18961734], [18962730, 18962865], [19018247, 19018447], [19027146, 19027312], [19029587, 19029790], [19062125, 19062372], [19071307, 19075360]] [[18958097, 18958182], [18960796, 18961032], [18961604, 18961734], [18962730, 18962865], [19018247, 19018447], [19027146, 19027312], [19029587, 19029790], [19062125, 19062372], [19071307, 19071423]]
ENST00000400661 [[18958017, 18958182], [18960796, 18961032], [18961604, 18961734], [18962736, 18962865], [19018247, 19018447], [19027146, 19027312], [19029587, 19029790], [19062125, 19062596]] [[18958097, 18958182], [18960796, 18961032], [18961604, 18961734], [18962736, 18962865], [19018247, 19018447], [19027146, 19027312], [19029587, 19029790], [19062125, 19062533]]
NM_013945 [[18957499, 18958182], [18960796, 18961032], [18961604, 18961734], [18962736, 18962865], [19018247, 19018447], [19027146, 19027312], [19029587, 19029790], [19062125, 19062632]] [[18958097, 18958182], [18960796, 18961032], [18961604, 18961734], [18962736, 18962865], [19018247, 19018447], [19027146, 19027312], [19029587, 19029790], [19062125, 19062533]]
NM_002584 [[18957499, 18958182], [18960796, 18961032], [18961604, 18961734], [18962730, 18962865], [19018247, 19018447], [19027146, 19027312], [19029587, 19029790], [19062125, 19062632]] [[18958097, 18958182], [18960796, 18961032], [18961604, 18961734], [18962730, 18962865], [19018247, 19018447], [19027146, 19027312], [19029587, 19029790], [19062125, 19062533]]
NM_001135254 [[18957499, 18958182], [18960796, 18961032], [18961604, 18961734], [18962730, 18962865], [19018247, 19018447], [19027146, 19027312], [19029587, 19029790], [19062125, 19062372], [19071307, 19075360]] [[18958097, 18958182], [18960796, 18961032], [18961604, 18961734], [18962730, 18962865], [19018247, 19018447], [19027146, 19027312], [19029587, 19029790], [19062125, 19062372], [19071307, 19071423]]
Promoter
Chrom Start End Description
chr1 18957333 18957375 CAGE_peak_1_at_PAX7_5end
chr1 18957380 18957386 CAGE_peak_10_at_PAX7_5end
chr1 18957605 18957623 CAGE_peak_3_at_PAX7_5end
chr1 18957627 18957640 CAGE_peak_4_at_PAX7_5end
chr1 18958008 18958023 CAGE_peak_2_at_PAX7_5end
chr1 18958059 18958081 CAGE_peak_6_at_PAX7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I018802 18802796 18808619 1.07 [{'connected_gene': 'TAS1R2', 'score': 11.29}, {'connected_gene': 'PAX7', 'score': 10.49}, {'connected_gene': 'GC01M018795', 'score': 0.44}]
chr1 GH01I018711 18711167 18712860 0.49 [{'connected_gene': 'PAX7', 'score': 10.89}, {'connected_gene': 'AKR7A3', 'score': 4.65}, {'connected_gene': 'GC01P018698', 'score': 0.39}, {'connected_gene': 'GC01P018746', 'score': 0.29}]
chr1 GH01I018667 18667838 18669505 0.64 [{'connected_gene': 'PAX7', 'score': 11.72}, {'connected_gene': 'GC01M018692', 'score': 0.31}, {'connected_gene': 'GC01M018622', 'score': 0.29}]
chr1 GH01I018763 18763805 18765259 0.2 [{'connected_gene': 'PAX7', 'score': 10.7}, {'connected_gene': 'GC01P018746', 'score': 0.37}, {'connected_gene': 'GC01M018795', 'score': 0.29}]
chr1 GH01I018653 18653967 18654116 0.2 [{'connected_gene': 'PAX7', 'score': 11.68}, {'connected_gene': 'GC01M018622', 'score': 0.37}, {'connected_gene': 'GC01M018692', 'score': 0.26}]
chr1 GH01I018666 18666259 18667233 0.31 [{'connected_gene': 'PAX7', 'score': 11.72}, {'connected_gene': 'GC01M018622', 'score': 0.31}, {'connected_gene': 'GC01M018692', 'score': 0.29}]
chr1 GH01I018651 18651387 18652437 0.66 [{'connected_gene': 'PAX7', 'score': 11.68}, {'connected_gene': 'GC01M018622', 'score': 0.39}, {'connected_gene': 'GC01M018692', 'score': 0.25}]
chr1 GH01I018630 18630860 18635450 1.67 [{'connected_gene': 'PAX7', 'score': 550.77}, {'connected_gene': 'GC01M018622', 'score': 0.77}]
chr1 GH01I018598 18598731 18599981 0.49 [{'connected_gene': 'PAX7', 'score': 11.82}, {'connected_gene': 'ENSG00000225478', 'score': 0.77}]
chr1 GH01I018640 18640947 18641096 0.96 [{'connected_gene': 'GC01M018622', 'score': 0.77}, {'connected_gene': 'PAX7', 'score': 0.39}, {'connected_gene': 'GC01M018692', 'score': 0.22}]
chr1 GH01I018645 18643227 18643816 0.96 [{'connected_gene': 'GC01M018622', 'score': 0.44}, {'connected_gene': 'PAX7', 'score': 0.39}, {'connected_gene': 'GC01M018692', 'score': 0.23}]
chr1 GH01I018702 18702808 18703825 0.62 [{'connected_gene': 'ENSG00000272084', 'score': 4.38}, {'connected_gene': 'GC01P018698', 'score': 0.44}, {'connected_gene': 'GC01P018746', 'score': 0.26}, {'connected_gene': 'PAX7', 'score': 0.19}]
chr1 GH01I018641 18640587 18640716 0.83 [{'connected_gene': 'GC01M018622', 'score': 0.77}, {'connected_gene': 'PAX7', 'score': 0.44}, {'connected_gene': 'GC01M018692', 'score': 0.22}]
chr1 GH01I018649 18649747 18649896 0.52 [{'connected_gene': 'GC01M018622', 'score': 0.39}, {'connected_gene': 'PAX7', 'score': 0.37}, {'connected_gene': 'GC01M018692', 'score': 0.25}]
chr1 GH01I018650 18650087 18650236 0.38 [{'connected_gene': 'GC01M018622', 'score': 0.39}, {'connected_gene': 'PAX7', 'score': 0.37}, {'connected_gene': 'GC01M018692', 'score': 0.25}]
chr1 GH01I018646 18646707 18646856 0.63 [{'connected_gene': 'GC01M018622', 'score': 0.44}, {'connected_gene': 'PAX7', 'score': 0.37}, {'connected_gene': 'GC01M018692', 'score': 0.23}]
chr1 GH01I018652 18649960 18650035 0.46 [{'connected_gene': 'GC01M018622', 'score': 0.39}, {'connected_gene': 'PAX7', 'score': 0.37}, {'connected_gene': 'GC01M018692', 'score': 0.25}]
chr1 GH01I018642 18642747 18642916 0.58 [{'connected_gene': 'GC01M018622', 'score': 0.44}, {'connected_gene': 'PAX7', 'score': 0.39}, {'connected_gene': 'GC01M018692', 'score': 0.23}]
chr1 GH01I018643 18643947 18644096 0.83 [{'connected_gene': 'GC01M018622', 'score': 0.44}, {'connected_gene': 'PAX7', 'score': 0.39}, {'connected_gene': 'GC01M018692', 'score': 0.23}]
chr1 GH01I018671 18671801 18672138 0.22 [{'connected_gene': 'GC01M018692', 'score': 0.31}, {'connected_gene': 'GC01M018622', 'score': 0.29}, {'connected_gene': 'PAX7', 'score': 0.26}]
chr1 GH01I018644 18644760 18646029 0.79 [{'connected_gene': 'GC01M018622', 'score': 0.44}, {'connected_gene': 'PAX7', 'score': 0.39}, {'connected_gene': 'GC01M018692', 'score': 0.23}]
chr1 GH01I018692 18692646 18694266 0.79 [{'connected_gene': 'GC01M018692', 'score': 0.77}, {'connected_gene': 'GC01M018622', 'score': 0.22}, {'connected_gene': 'PAX7', 'score': 0.21}]
chr1 GH01I018647 18647087 18647236 0.38 [{'connected_gene': 'GC01M018622', 'score': 0.39}, {'connected_gene': 'PAX7', 'score': 0.37}, {'connected_gene': 'GC01M018692', 'score': 0.23}]
chr1 GH01I018798 18798154 18801046 0.82 [{'connected_gene': 'GC01M018795', 'score': 550.77}, {'connected_gene': 'EMC1', 'score': 14.41}, {'connected_gene': 'PAX7', 'score': 10.5}, {'connected_gene': 'MRTO4', 'score': 4.51}, {'connected_gene': 'TAS1R2', 'score': 0.21}]

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