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
ENST00000416681 [[48128224, 48128520], [48129846, 48129961], [48134359, 48134424], [48139266, 48139384], [48141420, 48141579], [48142893, 48143004]] [[48134380, 48134424], [48139266, 48139384], [48141420, 48141579], [48142893, 48143004]]
ENST00000331803 [[48128240, 48128520], [48128808, 48129015], [48129846, 48129961], [48134359, 48134424], [48139266, 48139384], [48141420, 48141579], [48142893, 48143008], [48146469, 48146679], [48146957, 48147104], [48147814, 48148330]] [[48134380, 48134424], [48139266, 48139384], [48141420, 48141579], [48142893, 48143008], [48146469, 48146679], [48146957, 48147104], [48147814, 48147954]]
ENST00000432131 [[48128257, 48128505], [48128868, 48129015], [48129784, 48129961], [48134359, 48134424], [48139266, 48139311]] [[48134380, 48134424], [48139266, 48139311]]
ENST00000457596 [[48128323, 48128505], [48128868, 48129015], [48129784, 48129961], [48134359, 48134424], [48146469, 48146679], [48146957, 48147104], [48147814, 48147899]] [[48134380, 48134424], [48146469, 48146536]]
ENST00000341253 [[48128354, 48128520], [48128850, 48129015], [48129784, 48129961], [48134359, 48134424], [48139266, 48139384], [48141420, 48141579], [48142893, 48143008], [48146469, 48146679], [48146957, 48147104], [48147814, 48148314]] [[48134380, 48134424], [48139266, 48139384], [48141420, 48141579], [48142893, 48143008], [48146469, 48146679], [48146957, 48147104], [48147814, 48147954]]
ENST00000421046 [[48128823, 48129015], [48129846, 48129961], [48134359, 48134424], [48139266, 48139384], [48141420, 48141579], [48142893, 48143008], [48143378, 48143588]] [[48134380, 48134424], [48139266, 48139384], [48141420, 48141579], [48142893, 48143008], [48143378, 48143458]]
ENST00000395564 [[48128833, 48129015], [48129784, 48129961], [48134359, 48134424], [48139266, 48139384], [48141420, 48141579], [48142893, 48143008], [48146469, 48146679], [48146957, 48147104], [48147814, 48148016]] [[48134380, 48134424], [48139266, 48139384], [48141420, 48141579], [48142893, 48143008], [48146469, 48146679], [48146957, 48147104], [48147814, 48147954]]
ENST00000436673 [[48128861, 48129015], [48129105, 48129233], [48129784, 48129961], [48134359, 48134424], [48139266, 48139384], [48141420, 48141579], [48142893, 48143010]] [[48134380, 48134424], [48139266, 48139384], [48141420, 48141579], [48142893, 48143010]]
ENST00000395560 [[48128861, 48129015], [48129784, 48129961], [48134359, 48134424], [48146469, 48146679], [48146957, 48147104], [48147814, 48148016]] [[48134380, 48134424], [48146469, 48146536]]
ENST00000444999 [[48128878, 48129015], [48129784, 48129961], [48134359, 48134424], [48139266, 48139384], [48141420, 48141467], [48142893, 48143008], [48146469, 48146679]] [[48134380, 48134424], [48139266, 48139384], [48141420, 48141467], [48142893, 48142942]]
ENST00000482015 [[48128940, 48129015], [48129846, 48129961], [48134359, 48134424], [48141420, 48141467], [48146469, 48146679], [48146957, 48147104], [48147814, 48148016]] None
ENST00000429491 [[48128972, 48129015], [48129846, 48129961], [48134359, 48134424], [48146469, 48146679], [48146957, 48147104], [48147814, 48148012]] [[48134399, 48134424], [48146469, 48146679], [48146957, 48147104], [48147814, 48147954]]
ENST00000417464 [[48128972, 48129015], [48129846, 48129961], [48134359, 48134424], [48146469, 48146679], [48146957, 48147104], [48147814, 48148016]] [[48134380, 48134424], [48146469, 48146536]]
ENST00000495446 [[48144242, 48146679], [48146957, 48147104], [48147814, 48148012]] None
NM_001287428 [[48128199, 48128505], [48128868, 48129015], [48129784, 48129961], [48134359, 48134424], [48146469, 48146679], [48146957, 48147104], [48147814, 48148330]] [[48134399, 48134424], [48146469, 48146679], [48146957, 48147104], [48147814, 48147954]]
NM_001287426 [[48128199, 48128520], [48128808, 48129015], [48129846, 48129961], [48134359, 48134424], [48139266, 48139384], [48141420, 48141579], [48142893, 48143008], [48146469, 48146679], [48146957, 48147104], [48147814, 48148330]] [[48134380, 48134424], [48139266, 48139384], [48141420, 48141579], [48142893, 48143008], [48146469, 48146679], [48146957, 48147104], [48147814, 48147954]]
NM_001287429 [[48128736, 48129015], [48129784, 48129961], [48134359, 48134424], [48146469, 48146679], [48146957, 48147104], [48147814, 48148330]] [[48134399, 48134424], [48146469, 48146679], [48146957, 48147104], [48147814, 48147954]]
NM_003364 [[48128808, 48129015], [48129784, 48129961], [48134359, 48134424], [48139266, 48139384], [48141420, 48141579], [48142893, 48143008], [48146469, 48146679], [48146957, 48147104], [48147814, 48148330]] [[48134380, 48134424], [48139266, 48139384], [48141420, 48141579], [48142893, 48143008], [48146469, 48146679], [48146957, 48147104], [48147814, 48147954]]
NM_001287430 [[48128850, 48129015], [48129846, 48129961], [48134359, 48134424], [48146469, 48146679], [48146957, 48147104], [48147814, 48148330]] [[48134399, 48134424], [48146469, 48146679], [48146957, 48147104], [48147814, 48147954]]
NR_109837 [[48128850, 48129015], [48129846, 48129961], [48134359, 48134424], [48141420, 48141467], [48146469, 48146679], [48146957, 48147104], [48147814, 48148330]] None
Promoter
Chrom Start End Description
chr7 48128194 48128209 CAGE_peak_9_at_UPP1_5end
chr7 48128286 48128314 CAGE_peak_3_at_UPP1_5end
chr7 48128316 48128351 CAGE_peak_6_at_UPP1_5end
chr7 48128574 48128591 CAGE_peak_5_at_UPP1_5end
chr7 48128816 48128836 CAGE_peak_2_at_UPP1_5end
chr7 48128854 48128871 CAGE_peak_1_at_UPP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I048081 48081689 48100413 2.78 [{'connected_gene': 'UPP1', 'score': 593.36}, {'connected_gene': 'HUS1', 'score': 15.03}, {'connected_gene': 'PKD1L1', 'score': 10.69}, {'connected_gene': 'SUN3', 'score': 10.37}, {'connected_gene': 'ABCA13', 'score': 9.78}, {'connected_gene': 'ENSG00000225507', 'score': 5.0}, {'connected_gene': 'LOC105375271', 'score': 0.34}]
chr7 GH07I048011 48011601 48012200 0.4 [{'connected_gene': 'UPP1', 'score': 19.09}, {'connected_gene': 'HUS1', 'score': 11.34}, {'connected_gene': 'PKD1L1', 'score': 10.81}, {'connected_gene': 'SUN3', 'score': 0.37}, {'connected_gene': 'LOC105375270', 'score': 0.31}]
chr7 GH07I048388 48388900 48391600 0.91 [{'connected_gene': 'UPP1', 'score': 6.57}, {'connected_gene': 'HUS1', 'score': 2.44}, {'connected_gene': 'GC07M048395', 'score': 0.44}, {'connected_gene': 'GC07M048357', 'score': 0.44}, {'connected_gene': 'ABCA13', 'score': 0.08}]
chr7 GH07I048038 48038473 48039943 0.38 [{'connected_gene': 'UPP1', 'score': 14.54}, {'connected_gene': 'HUS1', 'score': 6.5}, {'connected_gene': 'C7orf57', 'score': 0.77}]
chr7 GH07I048052 48052365 48054143 0.82 [{'connected_gene': 'UPP1', 'score': 21.77}, {'connected_gene': 'SUN3', 'score': 11.03}, {'connected_gene': 'ABCA13', 'score': 10.08}, {'connected_gene': 'HUS1', 'score': 6.05}, {'connected_gene': 'C7orf57', 'score': 0.37}]
chr7 GH07I047991 47991158 47993372 1.36 [{'connected_gene': 'UPP1', 'score': 17.88}, {'connected_gene': 'PKD1L1', 'score': 10.99}, {'connected_gene': 'HUS1', 'score': 6.51}, {'connected_gene': 'ABCA13', 'score': 5.14}, {'connected_gene': 'LOC105375270', 'score': 0.44}, {'connected_gene': 'SUN3', 'score': 0.28}]
chr7 GH07I047947 47947200 47947400 0.51 [{'connected_gene': 'UPP1', 'score': 11.79}, {'connected_gene': 'ENSG00000225507', 'score': 0.44}, {'connected_gene': 'PKD1L1', 'score': 0.37}, {'connected_gene': 'HUS1', 'score': 0.29}, {'connected_gene': 'GC07M047823', 'score': 0.13}]
chr7 GH07I047949 47949727 47951931 1.09 [{'connected_gene': 'UPP1', 'score': 13.41}, {'connected_gene': 'ENSG00000225507', 'score': 0.44}, {'connected_gene': 'PKD1L1', 'score': 0.39}, {'connected_gene': 'HUS1', 'score': 0.31}, {'connected_gene': 'GC07M047823', 'score': 0.13}]
chr7 GH07I048077 48077891 48079468 0.49 [{'connected_gene': 'UPP1', 'score': 24.89}, {'connected_gene': 'PKD1L1', 'score': 10.72}, {'connected_gene': 'SUN3', 'score': 10.6}, {'connected_gene': 'C7orf57', 'score': 0.26}]
chr7 GH07I048000 48000144 48000573 0.43 [{'connected_gene': 'UPP1', 'score': 29.98}, {'connected_gene': 'PKD1L1', 'score': 10.92}, {'connected_gene': 'LOC105375270', 'score': 0.37}, {'connected_gene': 'SUN3', 'score': 0.31}]
chr7 GH07I048142 48142613 48146349 0.9 [{'connected_gene': 'UPP1', 'score': 11.29}, {'connected_gene': 'ABCA13', 'score': 8.45}, {'connected_gene': 'LOC105375271', 'score': 0.29}]
chr7 GH07I048146 48146465 48148628 0.2 [{'connected_gene': 'UPP1', 'score': 10.56}, {'connected_gene': 'ABCA13', 'score': 0.34}, {'connected_gene': 'LOC105375271', 'score': 0.29}]
chr7 GH07I048182 48182466 48183741 0.51 [{'connected_gene': 'UPP1', 'score': 6.09}, {'connected_gene': 'ABCA13', 'score': 0.39}, {'connected_gene': 'GC07M048357', 'score': 0.08}]
chr7 GH07I048109 48109133 48110781 1.25 [{'connected_gene': 'UPP1', 'score': 22.53}, {'connected_gene': 'C7orf57', 'score': 11.92}, {'connected_gene': 'PKD1L1', 'score': 11.69}, {'connected_gene': 'HUS1', 'score': 11.49}, {'connected_gene': 'ABCA13', 'score': 10.8}, {'connected_gene': 'LOC105375271', 'score': 0.77}]
chr7 GH07I048042 48041296 48043045 0.38 [{'connected_gene': 'UPP1', 'score': 14.06}, {'connected_gene': 'C7orf57', 'score': 0.44}]
chr7 GH07I048138 48138657 48141853 1.14 [{'connected_gene': 'UPP1', 'score': 10.53}, {'connected_gene': 'LOC105375271', 'score': 0.31}, {'connected_gene': 'ABCA13', 'score': 0.29}]
chr7 GH07I048101 48101520 48102690 0.43 [{'connected_gene': 'UPP1', 'score': 13.34}, {'connected_gene': 'LOC105375271', 'score': 0.39}]
chr7 GH07I047989 47989804 47989953 0.77 [{'connected_gene': 'UPP1', 'score': 10.66}, {'connected_gene': 'LOC105375270', 'score': 0.44}, {'connected_gene': 'SUN3', 'score': 0.28}]
chr7 GH07I047088 47088014 47089253 0.85 [{'connected_gene': 'UPP1', 'score': 4.28}, {'connected_gene': 'LOC105375268', 'score': 0.44}, {'connected_gene': 'GC07P047234', 'score': 0.11}]
chr7 GH07I047668 47668719 47673375 1.58 [{'connected_gene': 'TNS3', 'score': 11.2}, {'connected_gene': 'UPP1', 'score': 7.68}, {'connected_gene': 'HUS1', 'score': 2.56}, {'connected_gene': 'C7orf65', 'score': 0.37}, {'connected_gene': 'LINC00525', 'score': 0.16}]
chr7 GH07I047968 47968560 47971860 0.79 [{'connected_gene': 'HUS1', 'score': 13.72}, {'connected_gene': 'UPP1', 'score': 12.99}, {'connected_gene': 'PKD1L1', 'score': 0.44}]
chr7 GH07I047978 47978281 47980233 2.11 [{'connected_gene': 'HUS1', 'score': 563.83}, {'connected_gene': 'UPP1', 'score': 13.27}, {'connected_gene': 'PKD1L1', 'score': 0.39}]
chr7 GH07I047953 47953816 47955322 0.52 [{'connected_gene': 'HUS1', 'score': 23.99}, {'connected_gene': 'UPP1', 'score': 13.32}, {'connected_gene': 'ABCA13', 'score': 8.94}, {'connected_gene': 'ENSG00000225507', 'score': 0.77}, {'connected_gene': 'PKD1L1', 'score': 0.39}, {'connected_gene': 'GC07M047823', 'score': 0.13}]
chr7 GH07I048073 48073904 48075311 0.64 [{'connected_gene': 'SUN3', 'score': 11.26}, {'connected_gene': 'UPP1', 'score': 0.39}, {'connected_gene': 'C7orf57', 'score': 0.28}]
chr7 GH07I047937 47937404 47937553 0.79 [{'connected_gene': 'PKD1L1', 'score': 13.71}, {'connected_gene': 'UPP1', 'score': 4.76}, {'connected_gene': 'ENSG00000225507', 'score': 0.37}, {'connected_gene': 'HUS1', 'score': 0.26}, {'connected_gene': 'GC07M047823', 'score': 0.14}]
chr7 GH07I048079 48079479 48080274 0.2 [{'connected_gene': 'PKD1L1', 'score': 10.71}, {'connected_gene': 'UPP1', 'score': 0.44}, {'connected_gene': 'C7orf57', 'score': 0.26}]
chr7 GH07I047939 47939802 47943999 1.19 [{'connected_gene': 'PKD1L1', 'score': 13.97}, {'connected_gene': 'HUS1', 'score': 12.89}, {'connected_gene': 'C7orf57', 'score': 5.67}, {'connected_gene': 'UPP1', 'score': 5.39}, {'connected_gene': 'ENSG00000225507', 'score': 4.79}, {'connected_gene': 'GC07M047823', 'score': 0.14}]
chr7 GH07I048255 48255111 48255375 0.79 [{'connected_gene': 'ABCA13', 'score': 10.65}, {'connected_gene': 'UPP1', 'score': 3.97}, {'connected_gene': 'HUS1', 'score': 1.69}, {'connected_gene': 'GC07M048357', 'score': 0.13}]
chr7 GH07I048200 48200808 48201631 0.46 [{'connected_gene': 'ABCA13', 'score': 25.88}, {'connected_gene': 'UPP1', 'score': 5.15}, {'connected_gene': 'GC07M048357', 'score': 0.09}]
chr7 GH07I048036 48035200 48035601 1.8 [{'connected_gene': 'C7orf57', 'score': 550.77}, {'connected_gene': 'UPP1', 'score': 13.7}, {'connected_gene': 'SUN3', 'score': 0.44}]
chr7 GH07I048043 48040892 48040973 0.2 [{'connected_gene': 'C7orf57', 'score': 0.44}, {'connected_gene': 'UPP1', 'score': 0.25}]
chr7 GH07I048040 48040404 48040553 0.2 [{'connected_gene': 'C7orf57', 'score': 0.77}, {'connected_gene': 'UPP1', 'score': 0.25}]
chr7 GH07I048041 48040105 48040300 0.2 [{'connected_gene': 'C7orf57', 'score': 0.77}, {'connected_gene': 'UPP1', 'score': 0.25}]
chr7 GH07I048035 48035904 48036019 0.63 [{'connected_gene': 'C7orf57', 'score': 550.77}, {'connected_gene': 'UPP1', 'score': 0.23}]
chr7 GH07I048046 48046624 48046673 0.31 [{'connected_gene': 'C7orf57', 'score': 0.39}, {'connected_gene': 'UPP1', 'score': 0.26}]

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