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
ENST00000325590 [[38423304, 38424526], [38429404, 38429506], [38431348, 38431618], [38433604, 38433814], [38462020, 38462077], [38466553, 38466586], [38469441, 38469465], [38471788, 38471812], [38475871, 38475988], [38500882, 38501011], [38502574, 38502713], [38505066, 38505149], [38505772, 38505848], [38514930, 38515016], [38516461, 38516569], [38530649, 38530745], [38534032, 38534127], [38543249, 38543304], [38574530, 38574611], [38670882, 38671020]] [[38424418, 38424526], [38429404, 38429506], [38431348, 38431618], [38433604, 38433814], [38462020, 38462077], [38466553, 38466586], [38469441, 38469465], [38471788, 38471812], [38475871, 38475988], [38500882, 38501011], [38502574, 38502713], [38505066, 38505149], [38505772, 38505848], [38514930, 38515016], [38516461, 38516569], [38530649, 38530745], [38534032, 38534127], [38543249, 38543304], [38574530, 38574611], [38670882, 38670951]]
ENST00000356264 [[38423304, 38424526], [38429404, 38429506], [38431348, 38431618], [38433604, 38433814], [38457424, 38457550], [38462020, 38462077], [38466553, 38466586], [38469441, 38469465], [38471788, 38471812], [38475871, 38475988], [38500882, 38501011], [38502574, 38502713], [38505066, 38505149], [38505772, 38505848], [38514930, 38515016], [38516461, 38516569], [38530649, 38530745], [38534032, 38534127], [38543249, 38543304], [38574530, 38574611], [38670882, 38671167]] [[38424418, 38424526], [38429404, 38429506], [38431348, 38431618], [38433604, 38433814], [38457424, 38457550], [38462020, 38462077], [38466553, 38466586], [38469441, 38469465], [38471788, 38471812], [38475871, 38475988], [38500882, 38501011], [38502574, 38502713], [38505066, 38505149], [38505772, 38505848], [38514930, 38515016], [38516461, 38516569], [38530649, 38530745], [38534032, 38534127], [38543249, 38543304], [38574530, 38574611], [38670882, 38670951]]
ENST00000428293 [[38423306, 38424526], [38429404, 38429506], [38431348, 38431618], [38433604, 38433814], [38462020, 38462077], [38466553, 38466586], [38468655, 38468679], [38471788, 38471812], [38475871, 38475988], [38500882, 38501011], [38502574, 38502713], [38505066, 38505149], [38505772, 38505848], [38514930, 38515016], [38516461, 38516569], [38530649, 38530745], [38534032, 38534127], [38543249, 38543304], [38574530, 38574611], [38670882, 38671020]] [[38424418, 38424526], [38429404, 38429506], [38431348, 38431618], [38433604, 38433814], [38462020, 38462077], [38466553, 38466586], [38468655, 38468679], [38471788, 38471812], [38475871, 38475988], [38500882, 38501011], [38502574, 38502713], [38505066, 38505149], [38505772, 38505848], [38514930, 38515016], [38516461, 38516569], [38530649, 38530745], [38534032, 38534127], [38543249, 38543304], [38574530, 38574611], [38670882, 38670951]]
ENST00000441628 [[38424418, 38424526], [38429404, 38429506], [38431348, 38431618], [38433604, 38433814], [38462020, 38462077], [38466553, 38466586], [38468655, 38469177], [38469441, 38469465], [38471788, 38471812], [38475871, 38475988], [38500882, 38501011], [38502574, 38502713]] [[38424418, 38424526], [38429404, 38429506], [38431348, 38431618], [38433604, 38433814], [38462020, 38462077], [38466553, 38466586], [38468655, 38469177], [38469441, 38469465], [38471788, 38471812], [38475871, 38475988], [38500882, 38501011], [38502574, 38502713]]
ENST00000460887 [[38429448, 38429506], [38431348, 38431618], [38432217, 38432319]] None
ENST00000475581 [[38431491, 38431618], [38433604, 38433814], [38457424, 38457631]] None
ENST00000471913 [[38431588, 38431618], [38433604, 38433814], [38462020, 38462077], [38466553, 38466586], [38467437, 38468885]] None
ENST00000467580 [[38431588, 38431618], [38433604, 38433814], [38462020, 38462077], [38466553, 38466586], [38468349, 38468885]] None
ENST00000450124 [[38431588, 38431618], [38433604, 38433814], [38460511, 38460616], [38462020, 38462077], [38466553, 38466586], [38468655, 38468885]] [[38460598, 38460616], [38462020, 38462077], [38466553, 38466586], [38468655, 38468885]]
ENST00000462072 [[38433669, 38433814], [38457424, 38457550], [38462020, 38462077], [38466553, 38466586], [38469441, 38469655]] None
NM_001635 [[38423296, 38424526], [38429404, 38429506], [38431348, 38431618], [38433604, 38433814], [38457424, 38457550], [38462020, 38462077], [38466553, 38466586], [38469441, 38469465], [38471788, 38471812], [38475871, 38475988], [38500882, 38501011], [38502574, 38502713], [38505066, 38505149], [38505772, 38505848], [38514930, 38515016], [38516461, 38516569], [38530649, 38530745], [38534032, 38534127], [38543249, 38543304], [38574530, 38574611], [38670882, 38671167]] [[38424418, 38424526], [38429404, 38429506], [38431348, 38431618], [38433604, 38433814], [38457424, 38457550], [38462020, 38462077], [38466553, 38466586], [38469441, 38469465], [38471788, 38471812], [38475871, 38475988], [38500882, 38501011], [38502574, 38502713], [38505066, 38505149], [38505772, 38505848], [38514930, 38515016], [38516461, 38516569], [38530649, 38530745], [38534032, 38534127], [38543249, 38543304], [38574530, 38574611], [38670882, 38670951]]
NM_139316 [[38423296, 38424526], [38429404, 38429506], [38431348, 38431618], [38433604, 38433814], [38462020, 38462077], [38466553, 38466586], [38469441, 38469465], [38471788, 38471812], [38475871, 38475988], [38500882, 38501011], [38502574, 38502713], [38505066, 38505149], [38505772, 38505848], [38514930, 38515016], [38516461, 38516569], [38530649, 38530745], [38534032, 38534127], [38543249, 38543304], [38574530, 38574611], [38670882, 38671167]] [[38424418, 38424526], [38429404, 38429506], [38431348, 38431618], [38433604, 38433814], [38462020, 38462077], [38466553, 38466586], [38469441, 38469465], [38471788, 38471812], [38475871, 38475988], [38500882, 38501011], [38502574, 38502713], [38505066, 38505149], [38505772, 38505848], [38514930, 38515016], [38516461, 38516569], [38530649, 38530745], [38534032, 38534127], [38543249, 38543304], [38574530, 38574611], [38670882, 38670951]]
Promoter
Chrom Start End Description
chr7 38670957 38671039 CAGE_peak_1_at_AMPH_5end
chr7 38671047 38671065 CAGE_peak_3_at_AMPH_5end
chr7 38671067 38671081 CAGE_peak_4_at_AMPH_5end
chr7 38671098 38671112 CAGE_peak_2_at_AMPH_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I038678 38678086 38678291 0.33 [{'connected_gene': 'STARD3NL', 'score': 8.14}, {'connected_gene': 'AMPH', 'score': 7.23}, {'connected_gene': 'TARP', 'score': 1.73}, {'connected_gene': 'FAM183BP', 'score': 0.44}, {'connected_gene': 'KRT8P20', 'score': 0.34}]
chr7 GH07I038334 38334510 38338171 1.62 [{'connected_gene': 'TRGV7', 'score': 550.77}, {'connected_gene': 'ENSG00000272908', 'score': 13.75}, {'connected_gene': 'TRGV5', 'score': 13.28}, {'connected_gene': 'TRGV5P', 'score': 13.14}, {'connected_gene': 'STARD3NL', 'score': 11.26}, {'connected_gene': 'AMPH', 'score': 9.23}, {'connected_gene': 'TRGV6', 'score': 0.77}, {'connected_gene': 'TRG', 'score': 0.29}]
chr7 GH07I038344 38344020 38347000 1.14 [{'connected_gene': 'TRGV5P', 'score': 584.99}, {'connected_gene': 'TRGV4', 'score': 43.27}, {'connected_gene': 'TRGV3', 'score': 8.42}, {'connected_gene': 'AMPH', 'score': 8.05}, {'connected_gene': 'TRGV6', 'score': 5.83}, {'connected_gene': 'TRGV5', 'score': 0.77}, {'connected_gene': 'TRG-AS1', 'score': 0.77}, {'connected_gene': 'TRG', 'score': 0.34}]
chr7 GH07I038452 38452301 38453352 0.31 [{'connected_gene': 'TRGV5P', 'score': 5.6}, {'connected_gene': 'RN7SL83P', 'score': 0.18}, {'connected_gene': 'TRGV1', 'score': 0.18}, {'connected_gene': 'AMPH', 'score': 0.1}]
chr7 GH07I038398 38398841 38398990 0.59 [{'connected_gene': 'TRGV5', 'score': 6.64}, {'connected_gene': 'TRGV1', 'score': 0.29}, {'connected_gene': 'RN7SL83P', 'score': 0.12}, {'connected_gene': 'AMPH', 'score': 0.07}]
chr7 GH07I038347 38347729 38348141 0.2 [{'connected_gene': 'TRGV4', 'score': 42.54}, {'connected_gene': 'TRGV3', 'score': 8.29}, {'connected_gene': 'AMPH', 'score': 5.84}, {'connected_gene': 'TRGV5', 'score': 0.77}, {'connected_gene': 'TRGV5P', 'score': 0.77}, {'connected_gene': 'TRG-AS1', 'score': 0.44}, {'connected_gene': 'TRG', 'score': 0.34}]
chr7 GH07I038382 38382279 38383509 0.2 [{'connected_gene': 'TRGV4', 'score': 8.51}, {'connected_gene': 'AMPH', 'score': 4.79}, {'connected_gene': 'TRGV1', 'score': 0.39}, {'connected_gene': 'RN7SL83P', 'score': 0.11}]
chr7 GH07I038357 38357801 38361600 1.09 [{'connected_gene': 'TRGV3', 'score': 559.84}, {'connected_gene': 'GC07P038357', 'score': 550.77}, {'connected_gene': 'GC07P038360', 'score': 550.77}, {'connected_gene': 'TRGV4', 'score': 48.66}, {'connected_gene': 'TRGV5P', 'score': 34.55}, {'connected_gene': 'TRGV5', 'score': 12.1}, {'connected_gene': 'AMPH', 'score': 6.43}, {'connected_gene': 'TRGV7', 'score': 4.81}, {'connected_gene': 'TRG', 'score': 0.44}, {'connected_gene': 'TRG-AS1', 'score': 0.37}]
chr7 GH07I038366 38366663 38370825 1.17 [{'connected_gene': 'TRGV1', 'score': 550.77}, {'connected_gene': 'TRG', 'score': 550.77}, {'connected_gene': 'TRGV4', 'score': 52.94}, {'connected_gene': 'TRGV5P', 'score': 34.16}, {'connected_gene': 'TRGV3', 'score': 9.36}, {'connected_gene': 'AMPH', 'score': 8.87}, {'connected_gene': 'TRG-AS1', 'score': 0.31}, {'connected_gene': 'RN7SL83P', 'score': 0.1}]
chr7 GH07I038655 38655755 38656003 0.27 [{'connected_gene': 'KRT8P20', 'score': 550.77}, {'connected_gene': 'FAM183BP', 'score': 11.71}, {'connected_gene': 'AMPH', 'score': 11.66}]
chr7 GH07I038657 38657107 38657240 0.28 [{'connected_gene': 'FAM183BP', 'score': 11.72}, {'connected_gene': 'AMPH', 'score': 11.63}, {'connected_gene': 'STARD3NL', 'score': 10.3}, {'connected_gene': 'KRT8P20', 'score': 0.77}]
chr7 GH07I038394 38394401 38395473 0.54 [{'connected_gene': 'AMPH', 'score': 14.17}, {'connected_gene': 'TRGV5', 'score': 13.23}, {'connected_gene': 'STARD3NL', 'score': 2.97}, {'connected_gene': 'TARP', 'score': 2.94}, {'connected_gene': 'TRGV1', 'score': 0.31}, {'connected_gene': 'RN7SL83P', 'score': 0.12}]
chr7 GH07I038424 38424820 38426500 0.38 [{'connected_gene': 'AMPH', 'score': 13.79}, {'connected_gene': 'TRGV5', 'score': 5.59}, {'connected_gene': 'FAM183BP', 'score': 4.51}, {'connected_gene': 'TRGV1', 'score': 0.22}, {'connected_gene': 'RN7SL83P', 'score': 0.14}]
chr7 GH07I038413 38413595 38414233 0.68 [{'connected_gene': 'AMPH', 'score': 10.77}, {'connected_gene': 'TRGV1', 'score': 0.25}, {'connected_gene': 'RN7SL83P', 'score': 0.13}]
chr7 GH07I038433 38433775 38434089 0.31 [{'connected_gene': 'AMPH', 'score': 41.88}, {'connected_gene': 'FAM183BP', 'score': 10.42}, {'connected_gene': 'TRGV1', 'score': 0.2}, {'connected_gene': 'RN7SL83P', 'score': 0.15}]
chr7 GH07I038463 38463100 38464124 0.52 [{'connected_gene': 'AMPH', 'score': 55.74}, {'connected_gene': 'FAM183BP', 'score': 9.8}, {'connected_gene': 'RN7SL83P', 'score': 0.2}, {'connected_gene': 'TRGV1', 'score': 0.15}]
chr7 GH07I038506 38506881 38507030 0.31 [{'connected_gene': 'AMPH', 'score': 10.14}, {'connected_gene': 'FAM183BP', 'score': 9.5}, {'connected_gene': 'RN7SL83P', 'score': 0.34}, {'connected_gene': 'TRGV1', 'score': 0.12}]
chr7 GH07I038584 38584521 38584690 0.2 [{'connected_gene': 'AMPH', 'score': 15.89}, {'connected_gene': 'GC07M038550', 'score': 0.23}]
chr7 GH07I038630 38630800 38631800 1.84 [{'connected_gene': 'AMPH', 'score': 550.77}, {'connected_gene': 'GC07M038550', 'score': 0.15}]
chr7 GH07I038624 38624638 38624953 0.24 [{'connected_gene': 'POU6F2', 'score': 1.61}, {'connected_gene': 'AMPH', 'score': 0.44}, {'connected_gene': 'GC07M038550', 'score': 0.16}]

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