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
ENST00000437288 [[31694814, 31695130], [31695319, 31695420], [31695949, 31696069], [31696227, 31696301], [31696422, 31696522], [31696641, 31696654]] [[31694973, 31695130], [31695319, 31695420], [31695949, 31696069], [31696227, 31696301], [31696422, 31696522], [31696641, 31696654]]
ENST00000469963 [[31694814, 31695130], [31695319, 31695469], [31695949, 31696522], [31696641, 31697284]] None
ENST00000375789 [[31694814, 31695130], [31695319, 31695469], [31695949, 31696069], [31696227, 31696301], [31696422, 31696522], [31696641, 31697569]] [[31695013, 31695130], [31695319, 31695469], [31695949, 31696069], [31696227, 31696301], [31696422, 31696522], [31696641, 31696938]]
ENST00000480913 [[31694814, 31695130], [31695319, 31695469], [31695949, 31696069], [31696227, 31696301], [31696422, 31696522], [31697827, 31698004]] None
ENST00000483792 [[31694814, 31695130], [31695319, 31695469], [31695949, 31696069], [31696422, 31696522], [31697827, 31698039]] None
ENST00000375787 [[31694814, 31695130], [31695319, 31695469], [31695949, 31696069], [31696227, 31696301], [31696422, 31696522], [31696641, 31696998], [31697827, 31698040]] [[31695013, 31695130], [31695319, 31695469], [31695949, 31696069], [31696227, 31696301], [31696422, 31696522], [31696641, 31696938]]
ENST00000375792 [[31694814, 31695130], [31695319, 31695469], [31695949, 31696069], [31696227, 31696301], [31696422, 31696522], [31696641, 31697002], [31697827, 31698394]] [[31695013, 31695130], [31695319, 31695469], [31695949, 31696069], [31696227, 31696301], [31696422, 31696522], [31696641, 31696938]]
ENST00000416410 [[31695351, 31695469], [31695949, 31696069], [31696227, 31696301], [31696422, 31696522], [31696641, 31697002], [31697459, 31697573]] [[31695351, 31695469], [31695949, 31696069], [31696227, 31696301], [31696422, 31696522], [31696641, 31696938]]
ENST00000436437 [[31695382, 31695469], [31695949, 31696069], [31696227, 31696301], [31696422, 31696522], [31696641, 31697002], [31697138, 31697278]] [[31695382, 31695469], [31695949, 31696069], [31696227, 31696301], [31696422, 31696522], [31696641, 31696938]]
ENST00000488119 [[31695957, 31696522], [31696641, 31697002], [31697827, 31698022]] None
NM_001303008 [[31694813, 31695130], [31695319, 31695469], [31695949, 31696069], [31696227, 31696301], [31696422, 31696522], [31696641, 31697002], [31697138, 31697278]] [[31695013, 31695130], [31695319, 31695469], [31695949, 31696069], [31696227, 31696301], [31696422, 31696522], [31696641, 31696938]]
NM_001303007 [[31694813, 31695130], [31695319, 31695469], [31695949, 31696069], [31696227, 31696301], [31696422, 31696522], [31696641, 31698042]] [[31695013, 31695130], [31695319, 31695469], [31695949, 31696069], [31696227, 31696301], [31696422, 31696522], [31696641, 31696938]]
NM_013974 [[31694813, 31695130], [31695319, 31695469], [31695949, 31696069], [31696227, 31696301], [31696422, 31696522], [31696641, 31697002], [31697827, 31698042]] [[31695013, 31695130], [31695319, 31695469], [31695949, 31696069], [31696227, 31696301], [31696422, 31696522], [31696641, 31696938]]
NM_001303008 [[3204430, 3204747], [3204936, 3205086], [3205566, 3205686], [3205844, 3205918], [3206039, 3206139], [3206258, 3206619], [3206755, 3206895]] [[3204630, 3204747], [3204936, 3205086], [3205566, 3205686], [3205844, 3205918], [3206039, 3206139], [3206258, 3206555]]
NM_001303007 [[3204430, 3204747], [3204936, 3205086], [3205566, 3205686], [3205844, 3205918], [3206039, 3206139], [3206258, 3207659]] [[3204630, 3204747], [3204936, 3205086], [3205566, 3205686], [3205844, 3205918], [3206039, 3206139], [3206258, 3206555]]
NM_013974 [[3204430, 3204747], [3204936, 3205086], [3205566, 3205686], [3205844, 3205918], [3206039, 3206139], [3206258, 3206619], [3207444, 3207659]] [[3204630, 3204747], [3204936, 3205086], [3205566, 3205686], [3205844, 3205918], [3206039, 3206139], [3206258, 3206555]]
NM_001303008 [[2980382, 2980699], [2980888, 2981038], [2981518, 2981638], [2981796, 2981870], [2981991, 2982091], [2982210, 2982571], [2982707, 2982847]] [[2980582, 2980699], [2980888, 2981038], [2981518, 2981638], [2981796, 2981870], [2981991, 2982091], [2982210, 2982507]]
NM_001303007 [[2980382, 2980699], [2980888, 2981038], [2981518, 2981638], [2981796, 2981870], [2981991, 2982091], [2982210, 2983611]] [[2980582, 2980699], [2980888, 2981038], [2981518, 2981638], [2981796, 2981870], [2981991, 2982091], [2982210, 2982507]]
NM_013974 [[2980382, 2980699], [2980888, 2981038], [2981518, 2981638], [2981796, 2981870], [2981991, 2982091], [2982210, 2982571], [2983396, 2983611]] [[2980582, 2980699], [2980888, 2981038], [2981518, 2981638], [2981796, 2981870], [2981991, 2982091], [2982210, 2982507]]
NM_001303008 [[3074496, 3074813], [3075002, 3075152], [3075632, 3075752], [3075910, 3075984], [3076105, 3076205], [3076324, 3076685], [3076821, 3076961]] [[3074696, 3074813], [3075002, 3075152], [3075632, 3075752], [3075910, 3075984], [3076105, 3076205], [3076324, 3076621]]
NM_001303007 [[3074496, 3074813], [3075002, 3075152], [3075632, 3075752], [3075910, 3075984], [3076105, 3076205], [3076324, 3077725]] [[3074696, 3074813], [3075002, 3075152], [3075632, 3075752], [3075910, 3075984], [3076105, 3076205], [3076324, 3076621]]
NM_013974 [[3074496, 3074813], [3075002, 3075152], [3075632, 3075752], [3075910, 3075984], [3076105, 3076205], [3076324, 3076685], [3077510, 3077725]] [[3074696, 3074813], [3075002, 3075152], [3075632, 3075752], [3075910, 3075984], [3076105, 3076205], [3076324, 3076621]]
NM_001303008 [[2988443, 2988760], [2988949, 2989099], [2989579, 2989699], [2989857, 2989931], [2990052, 2990152], [2990271, 2990632], [2990768, 2990908]] [[2988643, 2988760], [2988949, 2989099], [2989579, 2989699], [2989857, 2989931], [2990052, 2990152], [2990271, 2990568]]
NM_001303007 [[2988443, 2988760], [2988949, 2989099], [2989579, 2989699], [2989857, 2989931], [2990052, 2990152], [2990271, 2991672]] [[2988643, 2988760], [2988949, 2989099], [2989579, 2989699], [2989857, 2989931], [2990052, 2990152], [2990271, 2990568]]
NM_013974 [[2988443, 2988760], [2988949, 2989099], [2989579, 2989699], [2989857, 2989931], [2990052, 2990152], [2990271, 2990632], [2991457, 2991672]] [[2988643, 2988760], [2988949, 2989099], [2989579, 2989699], [2989857, 2989931], [2990052, 2990152], [2990271, 2990568]]
NM_001303008 [[3037703, 3038020], [3038209, 3038359], [3038839, 3038959], [3039117, 3039191], [3039312, 3039412], [3039531, 3039892], [3040028, 3040168]] [[3037903, 3038020], [3038209, 3038359], [3038839, 3038959], [3039117, 3039191], [3039312, 3039412], [3039531, 3039828]]
NM_001303007 [[3037703, 3038020], [3038209, 3038359], [3038839, 3038959], [3039117, 3039191], [3039312, 3039412], [3039531, 3040932]] [[3037903, 3038020], [3038209, 3038359], [3038839, 3038959], [3039117, 3039191], [3039312, 3039412], [3039531, 3039828]]
NM_013974 [[3037703, 3038020], [3038209, 3038359], [3038839, 3038959], [3039117, 3039191], [3039312, 3039412], [3039531, 3039892], [3040717, 3040932]] [[3037903, 3038020], [3038209, 3038359], [3038839, 3038959], [3039117, 3039191], [3039312, 3039412], [3039531, 3039828]]
NM_001303008 [[3025630, 3025947], [3026136, 3026286], [3026766, 3026886], [3027044, 3027118], [3027239, 3027339], [3027458, 3027819], [3027955, 3028095]] [[3025830, 3025947], [3026136, 3026286], [3026766, 3026886], [3027044, 3027118], [3027239, 3027339], [3027458, 3027755]]
NM_001303007 [[3025630, 3025947], [3026136, 3026286], [3026766, 3026886], [3027044, 3027118], [3027239, 3027339], [3027458, 3028859]] [[3025830, 3025947], [3026136, 3026286], [3026766, 3026886], [3027044, 3027118], [3027239, 3027339], [3027458, 3027755]]
NM_013974 [[3025630, 3025947], [3026136, 3026286], [3026766, 3026886], [3027044, 3027118], [3027239, 3027339], [3027458, 3027819], [3028644, 3028859]] [[3025830, 3025947], [3026136, 3026286], [3026766, 3026886], [3027044, 3027118], [3027239, 3027339], [3027458, 3027755]]
Promoter
Chrom Start End Description
chr6 31697017 31697028 CAGE_peak_16_at_DDAH2_5end
chr6 31697037 31697082 CAGE_peak_2_at_DDAH2_5end
chr6 31697255 31697308 CAGE_peak_3_at_DDAH2_5end
chr6 31697563 31697598 CAGE_peak_4_at_DDAH2_5end
chr6 31697949 31697960 CAGE_peak_5_at_DDAH2_5end
chr6 31697977 31698052 CAGE_peak_1_at_DDAH2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I031723 31723279 31723800 1.19 [{'connected_gene': 'MPIG6B', 'score': 550.77}, {'connected_gene': 'LY6G6C', 'score': 550.77}, {'connected_gene': 'DDAH2', 'score': 0.44}]
chr6 GH06I031813 31813064 31838688 2.61 [{'connected_gene': 'C6orf48', 'score': 560.42}, {'connected_gene': 'HSPA1B', 'score': 558.22}, {'connected_gene': 'HSPA1A', 'score': 557.56}, {'connected_gene': 'HSPA1L', 'score': 554.6}, {'connected_gene': 'GC06P032039', 'score': 550.77}, {'connected_gene': 'ATF6B', 'score': 113.91}, {'connected_gene': 'DDX39B', 'score': 111.43}, {'connected_gene': 'LY6G5B', 'score': 91.72}, {'connected_gene': 'LSM2', 'score': 73.12}, {'connected_gene': 'BAG6', 'score': 65.65}, {'connected_gene': 'SKIV2L', 'score': 64.04}, {'connected_gene': 'CSNK2B', 'score': 63.59}, {'connected_gene': 'GPANK1', 'score': 57.28}, {'connected_gene': 'PBX2', 'score': 57.01}, {'connected_gene': 'MSH5', 'score': 50.71}, {'connected_gene': 'VARS', 'score': 45.74}, {'connected_gene': 'GTF2H4', 'score': 37.88}, {'connected_gene': 'C6orf47', 'score': 34.21}, {'connected_gene': 'CCHCR1', 'score': 33.69}, {'connected_gene': 'RPL3P2', 'score': 32.71}, {'connected_gene': 'TCF19', 'score': 31.93}, {'connected_gene': 'NFKBIL1', 'score': 31.47}, {'connected_gene': 'MICA', 'score': 29.67}, {'connected_gene': 'LY6G6C', 'score': 24.72}, {'connected_gene': 'DXO', 'score': 24.71}, {'connected_gene': 'VWA7', 'score': 22.05}, {'connected_gene': 'STK19B', 'score': 20.59}, {'connected_gene': 'C4A', 'score': 20.2}, {'connected_gene': 'HLA-DRB1', 'score': 19.24}, {'connected_gene': 'PPT2', 'score': 18.25}, {'connected_gene': 'HLA-C', 'score': 16.42}, {'connected_gene': 'LY6G5C', 'score': 16.14}, {'connected_gene': 'HLA-DQA2', 'score': 14.0}, {'connected_gene': 'HLA-DQB2', 'score': 13.77}, {'connected_gene': 'MICB', 'score': 13.2}, {'connected_gene': 'SAPCD1', 'score': 11.69}, {'connected_gene': 'SAPCD1-AS1', 'score': 11.69}, {'connected_gene': 'ENSG00000201555', 'score': 11.66}, {'connected_gene': 'MSH5-SAPCD1', 'score': 11.65}, {'connected_gene': 'ENSG00000201207', 'score': 11.51}, {'connected_gene': 'RNU6-850P', 'score': 11.16}, {'connected_gene': 'NELFE', 'score': 10.88}, {'connected_gene': 'DDAH2', 'score': 10.86}, {'connected_gene': 'MPIG6B', 'score': 10.85}, {'connected_gene': 'LY6G6E', 'score': 10.84}, {'connected_gene': 'ENSG00000204422', 'score': 10.84}, {'connected_gene': 'LY6G6D', 'score': 10.84}, {'connected_gene': 'HLA-DOB', 'score': 10.61}, {'connected_gene': 'STK19', 'score': 10.51}, {'connected_gene': 'LTB', 'score': 10.17}, {'connected_gene': 'SNORD117', 'score': 10.13}, {'connected_gene': 'HLA-DQA1', 'score': 9.9}, {'connected_gene': 'VARS2', 'score': 9.82}, {'connected_gene': 'CLIC1', 'score': 9.81}, {'connected_gene': 'AGER', 'score': 6.22}, {'connected_gene': 'HLA-DRB5', 'score': 5.65}, {'connected_gene': 'TNF', 'score': 2.34}, {'connected_gene': 'NEU1', 'score': 1.62}, {'connected_gene': 'PIR48823', 'score': 0.77}, {'connected_gene': 'SNORD48', 'score': 0.44}, {'connected_gene': 'GC06P032041', 'score': 0.44}, {'connected_gene': 'GC06P032038', 'score': 0.39}, {'connected_gene': 'PIR57926', 'score': 0.39}, {'connected_gene': 'SNORD52', 'score': 0.39}, {'connected_gene': 'GC06P032040', 'score': 0.39}]
chr6 GH06I031733 31733220 31741689 2.72 [{'connected_gene': 'MSH5', 'score': 604.02}, {'connected_gene': 'CLIC1', 'score': 559.22}, {'connected_gene': 'DDX39B', 'score': 106.6}, {'connected_gene': 'LY6G5B', 'score': 102.51}, {'connected_gene': 'ATF6B', 'score': 92.91}, {'connected_gene': 'LSM2', 'score': 79.87}, {'connected_gene': 'CSNK2B', 'score': 72.29}, {'connected_gene': 'SKIV2L', 'score': 68.8}, {'connected_gene': 'GPANK1', 'score': 56.74}, {'connected_gene': 'BAG6', 'score': 52.9}, {'connected_gene': 'PBX2', 'score': 51.74}, {'connected_gene': 'NFKBIL1', 'score': 49.46}, {'connected_gene': 'VARS', 'score': 47.52}, {'connected_gene': 'CCHCR1', 'score': 42.83}, {'connected_gene': 'TCF19', 'score': 41.5}, {'connected_gene': 'GTF2H4', 'score': 38.05}, {'connected_gene': 'MICA', 'score': 37.35}, {'connected_gene': 'LY6G5C', 'score': 33.77}, {'connected_gene': 'C6orf47', 'score': 32.5}, {'connected_gene': 'RPL3P2', 'score': 31.35}, {'connected_gene': 'SAPCD1', 'score': 23.38}, {'connected_gene': 'ABHD16A', 'score': 22.21}, {'connected_gene': 'PPT2', 'score': 21.82}, {'connected_gene': 'TNXB', 'score': 21.38}, {'connected_gene': 'NELFE', 'score': 21.11}, {'connected_gene': 'C4A', 'score': 20.11}, {'connected_gene': 'DXO', 'score': 19.38}, {'connected_gene': 'HSPA1L', 'score': 16.48}, {'connected_gene': 'HLA-C', 'score': 14.71}, {'connected_gene': 'STK19', 'score': 14.58}, {'connected_gene': 'MICB', 'score': 14.42}, {'connected_gene': 'LY6G6C', 'score': 14.12}, {'connected_gene': 'HSPA1A', 'score': 12.66}, {'connected_gene': 'ENSG00000204422', 'score': 12.39}, {'connected_gene': 'LY6G6E', 'score': 12.39}, {'connected_gene': 'LY6G6D', 'score': 12.39}, {'connected_gene': 'SAPCD1-AS1', 'score': 12.13}, {'connected_gene': 'VWA7', 'score': 12.1}, {'connected_gene': 'ENSG00000201555', 'score': 11.61}, {'connected_gene': 'HLA-B', 'score': 11.55}, {'connected_gene': 'HLA-DRB1', 'score': 11.23}, {'connected_gene': 'ENSG00000201207', 'score': 10.89}, {'connected_gene': 'EGFL8', 'score': 10.25}, {'connected_gene': 'FKBPL', 'score': 9.92}, {'connected_gene': 'HLA-DQA1', 'score': 9.9}, {'connected_gene': 'GPSM3', 'score': 6.67}, {'connected_gene': 'LST1', 'score': 4.77}, {'connected_gene': 'MPIG6B', 'score': 4.67}, {'connected_gene': 'ATP6V1G2', 'score': 4.22}, {'connected_gene': 'NEU1', 'score': 3.64}, {'connected_gene': 'TNF', 'score': 3.54}, {'connected_gene': 'AGPAT1', 'score': 3.26}, {'connected_gene': 'AIF1', 'score': 2.41}, {'connected_gene': 'HSPA1B', 'score': 1.44}, {'connected_gene': 'LOC105375020', 'score': 0.77}, {'connected_gene': 'MSH5-SAPCD1', 'score': 0.77}, {'connected_gene': 'DDAH2', 'score': 0.44}]
chr6 GH06I032633 32633383 32640625 2.09 [{'connected_gene': 'HLA-DQA1', 'score': 651.79}, {'connected_gene': 'GC06P032638', 'score': 550.77}, {'connected_gene': 'GC06P032637', 'score': 550.77}, {'connected_gene': 'HLA-DQB1', 'score': 86.74}, {'connected_gene': 'HLA-DQA2', 'score': 80.44}, {'connected_gene': 'HLA-DRB1', 'score': 72.85}, {'connected_gene': 'HLA-DQB2', 'score': 60.63}, {'connected_gene': 'HLA-DRB5', 'score': 52.83}, {'connected_gene': 'PPT2', 'score': 47.35}, {'connected_gene': 'HLA-DRB6', 'score': 42.05}, {'connected_gene': 'HCG25', 'score': 39.69}, {'connected_gene': 'VPS52', 'score': 32.66}, {'connected_gene': 'EGFL8', 'score': 32.51}, {'connected_gene': 'RING1', 'score': 28.34}, {'connected_gene': 'BRD2', 'score': 22.01}, {'connected_gene': 'CYP21A1P', 'score': 18.42}, {'connected_gene': 'MSH5', 'score': 14.74}, {'connected_gene': 'HLA-DQB1-AS1', 'score': 14.11}, {'connected_gene': 'DAXX', 'score': 12.92}, {'connected_gene': 'ZBTB12', 'score': 12.87}, {'connected_gene': 'EHMT2', 'score': 12.5}, {'connected_gene': 'ATF6B', 'score': 12.21}, {'connected_gene': 'CSNK2B', 'score': 12.08}, {'connected_gene': 'NELFE', 'score': 12.02}, {'connected_gene': 'B3GALT4', 'score': 11.63}, {'connected_gene': 'HCG23', 'score': 11.5}, {'connected_gene': 'SAPCD1', 'score': 11.28}, {'connected_gene': 'LSM2', 'score': 10.87}, {'connected_gene': 'GPANK1', 'score': 10.5}, {'connected_gene': 'SYNGAP1', 'score': 10.45}, {'connected_gene': 'LOC101929163', 'score': 10.24}, {'connected_gene': 'WDR46', 'score': 10.18}, {'connected_gene': 'FKBPL', 'score': 9.9}, {'connected_gene': 'PRRT1', 'score': 9.84}, {'connected_gene': 'C6orf48', 'score': 9.83}, {'connected_gene': 'KIFC1', 'score': 9.69}, {'connected_gene': 'HLA-DRA', 'score': 9.1}, {'connected_gene': 'HLA-DPB1', 'score': 8.91}, {'connected_gene': 'HLA-DPA1', 'score': 7.43}, {'connected_gene': 'HLA-DMA', 'score': 4.86}, {'connected_gene': 'HLA-DMB', 'score': 4.84}, {'connected_gene': 'DDAH2', 'score': 4.61}, {'connected_gene': 'HLA-DOA', 'score': 4.13}, {'connected_gene': 'HLA-DOB', 'score': 2.3}, {'connected_gene': 'PSMB8', 'score': 2.0}, {'connected_gene': 'TAP2', 'score': 1.76}, {'connected_gene': 'TAP1', 'score': 1.65}, {'connected_gene': 'GPSM3', 'score': 1.3}]
chr6 GH06I031725 31725794 31731367 2.49 [{'connected_gene': 'DDAH2', 'score': 550.77}, {'connected_gene': 'DDX39B', 'score': 100.29}, {'connected_gene': 'LY6G5B', 'score': 86.28}, {'connected_gene': 'ATF6B', 'score': 83.34}, {'connected_gene': 'LSM2', 'score': 64.86}, {'connected_gene': 'SKIV2L', 'score': 63.02}, {'connected_gene': 'PBX2', 'score': 56.19}, {'connected_gene': 'NFKBIL1', 'score': 50.98}, {'connected_gene': 'CSNK2B', 'score': 43.07}, {'connected_gene': 'MSH5', 'score': 41.09}, {'connected_gene': 'GTF2H4', 'score': 39.01}, {'connected_gene': 'TCF19', 'score': 35.06}, {'connected_gene': 'DXO', 'score': 33.61}, {'connected_gene': 'MICA', 'score': 30.99}, {'connected_gene': 'GPANK1', 'score': 30.13}, {'connected_gene': 'RPL3P2', 'score': 29.95}, {'connected_gene': 'BAG6', 'score': 27.25}, {'connected_gene': 'C6orf47', 'score': 22.12}, {'connected_gene': 'VARS', 'score': 21.34}, {'connected_gene': 'HLA-DRB1', 'score': 18.8}, {'connected_gene': 'LY6G5C', 'score': 17.15}, {'connected_gene': 'STK19', 'score': 10.47}, {'connected_gene': 'CCHCR1', 'score': 10.28}, {'connected_gene': 'PPT2', 'score': 10.11}, {'connected_gene': 'ABHD16A', 'score': 10.05}, {'connected_gene': 'CLIC1', 'score': 10.03}, {'connected_gene': 'HLA-B', 'score': 4.91}, {'connected_gene': 'ATP6V1G2', 'score': 4.04}, {'connected_gene': 'MPIG6B', 'score': 0.44}, {'connected_gene': 'LY6G6C', 'score': 0.44}]

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