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
ENST00000592414 [[3052907, 3055724], [3056309, 3056766]] None
ENST00000221561 [[3052907, 3054038], [3054117, 3054192], [3055661, 3055724], [3056309, 3056354], [3057676, 3057740], [3061157, 3061255], [3062697, 3063105]] [[3053816, 3054038], [3054117, 3054192], [3055661, 3055724], [3056309, 3056354], [3057676, 3057740], [3061157, 3061255], [3062697, 3062925]]
ENST00000586742 [[3052980, 3054192], [3055661, 3055724], [3056309, 3056354], [3057676, 3057740], [3061157, 3061255], [3062697, 3062881]] [[3053853, 3054192], [3055661, 3055724], [3056309, 3056354], [3057676, 3057740], [3061157, 3061255], [3062697, 3062881]]
ENST00000327141 [[3053159, 3054038], [3054117, 3054192], [3055661, 3055724], [3056309, 3056354], [3057676, 3057740], [3061157, 3061255], [3062171, 3062555]] [[3053816, 3054038], [3054117, 3054192], [3055661, 3055724], [3056309, 3056354], [3057676, 3057740], [3061157, 3061255], [3062171, 3062198]]
ENST00000587393 [[3053209, 3054038], [3054117, 3054192], [3055661, 3055724], [3056309, 3056354], [3057676, 3057746]] None
ENST00000592330 [[3053405, 3053456], [3056309, 3056354], [3057676, 3057740], [3061157, 3061255], [3062171, 3062188]] None
ENST00000590067 [[3053546, 3054038], [3054117, 3054192], [3055661, 3056194]] None
ENST00000586839 [[3053588, 3054038], [3054117, 3054192], [3055661, 3055724], [3056309, 3056354], [3057676, 3057740], [3061157, 3061402]] [[3053816, 3054038], [3054117, 3054192], [3055661, 3055724], [3056309, 3056354], [3057676, 3057697]]
ENST00000585557 [[3054020, 3054038], [3054117, 3054192], [3055661, 3055724], [3061157, 3061255], [3062171, 3062408]] [[3055702, 3055724], [3061157, 3061255], [3062171, 3062198]]
ENST00000587083 [[3054165, 3054192], [3055661, 3055724], [3056309, 3056677]] None
ENST00000585782 [[3057437, 3057740], [3061157, 3061255], [3062171, 3062275]] None
ENST00000586003 [[3060949, 3061255], [3062171, 3062232]] None
NM_001130 [[3052907, 3054038], [3054117, 3054192], [3055661, 3055724], [3056309, 3056354], [3057676, 3057740], [3061157, 3061255], [3062171, 3062371]] [[3053816, 3054038], [3054117, 3054192], [3055661, 3055724], [3056309, 3056354], [3057676, 3057740], [3061157, 3061255], [3062171, 3062198]]
NM_198970 [[3052907, 3054035], [3054117, 3054192], [3055661, 3055724], [3056309, 3056354], [3057676, 3057740], [3061157, 3061255], [3062171, 3062371]] [[3053816, 3054035], [3054117, 3054192], [3055661, 3055724], [3056309, 3056354], [3057676, 3057740], [3061157, 3061255], [3062171, 3062198]]
NM_198969 [[3052907, 3054038], [3054117, 3054192], [3055661, 3055724], [3056309, 3056354], [3057676, 3057740], [3061157, 3061255], [3062697, 3062964]] [[3053816, 3054038], [3054117, 3054192], [3055661, 3055724], [3056309, 3056354], [3057676, 3057740], [3061157, 3061255], [3062697, 3062925]]
Promoter
Chrom Start End Description
chr19 3054145 3054176 CAGE_peak_14_at_AES_5end
chr19 3056479 3056494 CAGE_peak_27_at_AES_5end
chr19 3056570 3056600 CAGE_peak_21_at_AES_5end
chr19 3061212 3061234 CAGE_peak_13_at_AES_5end
chr19 3061239 3061269 CAGE_peak_7_at_AES_5end
chr19 3061274 3061306 CAGE_peak_8_at_AES_5end
chr19 3061315 3061396 CAGE_peak_5_at_AES_5end
chr19 3061397 3061419 CAGE_peak_12_at_AES_5end
chr19 3061441 3061460 CAGE_peak_11_at_AES_5end
chr19 3061488 3061514 CAGE_peak_10_at_AES_5end
chr19 3062224 3062230 CAGE_peak_16_at_AES_5end
chr19 3062275 3062375 CAGE_peak_2_at_AES_5end
chr19 3062381 3062427 CAGE_peak_3_at_AES_5end
chr19 3062465 3062574 CAGE_peak_1_at_AES_5end
chr19 3062770 3062809 CAGE_peak_6_at_AES_5end
chr19 3062810 3062845 CAGE_peak_9_at_AES_5end
chr19 3062910 3062955 CAGE_peak_4_at_AES_5end
chr19 3063099 3063110 CAGE_peak_19_at_AES_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I003394 3394110 3395374 0.31 [{'connected_gene': 'MPND', 'score': 5.26}, {'connected_gene': 'AES', 'score': 5.19}, {'connected_gene': 'ENSG00000279599', 'score': 0.34}, {'connected_gene': 'NFIC', 'score': 0.18}, {'connected_gene': 'SMIM24', 'score': 0.17}]
chr19 GH19I003013 3013438 3014951 0.52 [{'connected_gene': 'TLE6', 'score': 13.11}, {'connected_gene': 'AES', 'score': 11.9}, {'connected_gene': 'GNA15', 'score': 11.8}, {'connected_gene': 'GNA11', 'score': 11.67}, {'connected_gene': 'LOC101928631', 'score': 10.29}, {'connected_gene': 'ZNF57', 'score': 10.26}, {'connected_gene': 'GC19P003016', 'score': 0.77}, {'connected_gene': 'TLE2', 'score': 0.29}]
chr19 GH19I003012 3012394 3013358 0.69 [{'connected_gene': 'TLE6', 'score': 13.11}, {'connected_gene': 'AES', 'score': 11.89}, {'connected_gene': 'GNA11', 'score': 11.21}, {'connected_gene': 'LOC101928631', 'score': 10.29}, {'connected_gene': 'ZNF57', 'score': 10.26}, {'connected_gene': 'EEF2', 'score': 5.2}, {'connected_gene': 'GC19P003016', 'score': 0.77}, {'connected_gene': 'TLE2', 'score': 0.29}]
chr19 GH19I003046 3046079 3048502 1.72 [{'connected_gene': 'TLE2', 'score': 550.77}, {'connected_gene': 'AES', 'score': 5.31}, {'connected_gene': 'GIPC3', 'score': 4.6}, {'connected_gene': 'GC19M003048', 'score': 0.39}, {'connected_gene': 'GC19M003020', 'score': 0.34}]
chr19 GH19I002769 2769198 2772879 1.2 [{'connected_gene': 'THOP1', 'score': 18.48}, {'connected_gene': 'ZNF554', 'score': 8.14}, {'connected_gene': 'DIRAS1', 'score': 3.34}, {'connected_gene': 'AES', 'score': 2.54}, {'connected_gene': 'GC19M002770', 'score': 0.77}, {'connected_gene': 'PIR59751', 'score': 0.77}, {'connected_gene': 'GC19P002768', 'score': 0.77}, {'connected_gene': 'SGTA', 'score': 0.39}]
chr19 GH19I003357 3357503 3362953 2.52 [{'connected_gene': 'NFIC', 'score': 552.51}, {'connected_gene': 'CACTIN', 'score': 24.77}, {'connected_gene': 'ZNF77', 'score': 19.1}, {'connected_gene': 'ZNF555', 'score': 15.67}, {'connected_gene': 'TLE2', 'score': 12.06}, {'connected_gene': 'GNA11', 'score': 10.73}, {'connected_gene': 'FZR1', 'score': 10.54}, {'connected_gene': 'CACTIN-AS1', 'score': 10.21}, {'connected_gene': 'CCDC94', 'score': 9.95}, {'connected_gene': 'MATK', 'score': 3.21}, {'connected_gene': 'AES', 'score': 1.85}, {'connected_gene': 'CELF5', 'score': 1.75}, {'connected_gene': 'ENSG00000280103', 'score': 0.77}, {'connected_gene': 'ENSG00000279599', 'score': 0.39}]
chr19 GH19I003342 3342919 3344912 1.58 [{'connected_gene': 'CACTIN-AS1', 'score': 12.81}, {'connected_gene': 'ZNF555', 'score': 10.34}, {'connected_gene': 'PIAS4', 'score': 10.09}, {'connected_gene': 'NFIC', 'score': 4.12}, {'connected_gene': 'TLE2', 'score': 4.01}, {'connected_gene': 'AES', 'score': 1.69}, {'connected_gene': 'DOHH', 'score': 1.61}, {'connected_gene': 'PIP5K1C', 'score': 1.22}, {'connected_gene': 'GNA11', 'score': 1.19}, {'connected_gene': 'ENSG00000280103', 'score': 0.39}]
chr19 GH19I002663 2663334 2665715 1.15 [{'connected_gene': 'GNG7', 'score': 9.67}, {'connected_gene': 'SPPL2B', 'score': 2.54}, {'connected_gene': 'AES', 'score': 1.47}, {'connected_gene': 'PIR43863', 'score': 0.44}, {'connected_gene': 'ENSG00000276097', 'score': 0.28}]
chr19 GH19I002668 2668277 2668467 0.67 [{'connected_gene': 'GNG7', 'score': 4.37}, {'connected_gene': 'SPPL2B', 'score': 2.62}, {'connected_gene': 'AES', 'score': 1.23}, {'connected_gene': 'PIR43863', 'score': 0.39}, {'connected_gene': 'ENSG00000276097', 'score': 0.29}]
chr19 GH19I003162 3162791 3164252 1.2 [{'connected_gene': 'GNA15', 'score': 13.51}, {'connected_gene': 'GNA11', 'score': 12.04}, {'connected_gene': 'AES', 'score': 11.49}, {'connected_gene': 'APBA3', 'score': 5.15}, {'connected_gene': 'GC19M003162', 'score': 0.77}, {'connected_gene': 'GC19M003161', 'score': 0.77}]
chr19 GH19I003071 3071484 3074266 1.24 [{'connected_gene': 'GNA11', 'score': 12.71}, {'connected_gene': 'TLE6', 'score': 11.9}, {'connected_gene': 'ZNF77', 'score': 11.31}, {'connected_gene': 'AES', 'score': 6.41}, {'connected_gene': 'LOC105372242', 'score': 0.77}, {'connected_gene': 'GC19P003066', 'score': 0.44}]
chr19 GH19I003059 3059443 3064262 2.17 [{'connected_gene': 'AES', 'score': 571.48}, {'connected_gene': 'TLE6', 'score': 11.68}, {'connected_gene': 'GNA11', 'score': 11.67}, {'connected_gene': 'GC19M003048', 'score': 0.77}]
chr19 GH19I003006 3006143 3006352 0.57 [{'connected_gene': 'AES', 'score': 11.68}, {'connected_gene': 'GNA11', 'score': 11.16}, {'connected_gene': 'GC19P003016', 'score': 0.39}, {'connected_gene': 'TLE6', 'score': 0.31}, {'connected_gene': 'TLE2', 'score': 0.26}]
chr19 GH19I003088 3088459 3090286 0.95 [{'connected_gene': 'AES', 'score': 7.21}, {'connected_gene': 'GNA11', 'score': 0.44}, {'connected_gene': 'LOC105372242', 'score': 0.39}]
chr19 GH19I003271 3271005 3271312 0.61 [{'connected_gene': 'AES', 'score': 10.63}, {'connected_gene': 'C19orf71', 'score': 6.13}, {'connected_gene': 'CELF5', 'score': 5.83}, {'connected_gene': 'ZNF555', 'score': 1.11}, {'connected_gene': 'GC19M003293', 'score': 0.34}, {'connected_gene': 'GC19M003224', 'score': 0.28}]
chr19 GH19I002872 2872200 2872600 0.52 [{'connected_gene': 'ZNF555', 'score': 12.19}, {'connected_gene': 'ZNF57', 'score': 11.89}, {'connected_gene': 'LOC101928631', 'score': 11.81}, {'connected_gene': 'ZNF77', 'score': 11.45}, {'connected_gene': 'AES', 'score': 10.36}, {'connected_gene': 'ENSG00000267398', 'score': 0.77}, {'connected_gene': 'ZNF556', 'score': 0.44}]
chr19 GH19I002719 2719794 2720680 0.92 [{'connected_gene': 'DIRAS1', 'score': 562.88}, {'connected_gene': 'JSRP1', 'score': 4.83}, {'connected_gene': 'AES', 'score': 2.52}, {'connected_gene': 'GNG7', 'score': 2.5}, {'connected_gene': 'TLE6', 'score': 2.03}, {'connected_gene': 'GC19P002709', 'score': 0.39}, {'connected_gene': 'ENSG00000267001', 'score': 0.37}]
chr19 GH19I003150 3150384 3156392 1.77 [{'connected_gene': 'LOC100996351', 'score': 550.77}, {'connected_gene': 'GC19P003154', 'score': 550.77}, {'connected_gene': 'PIR47090', 'score': 550.77}, {'connected_gene': 'GC19P003153', 'score': 550.77}, {'connected_gene': 'ZNF77', 'score': 82.13}, {'connected_gene': 'CACTIN', 'score': 56.77}, {'connected_gene': 'GNA11', 'score': 39.04}, {'connected_gene': 'DOT1L', 'score': 32.76}, {'connected_gene': 'ZNF555', 'score': 31.5}, {'connected_gene': 'LMNB2', 'score': 28.84}, {'connected_gene': 'CACTIN-AS1', 'score': 24.69}, {'connected_gene': 'SPPL2B', 'score': 20.52}, {'connected_gene': 'SF3A2', 'score': 20.36}, {'connected_gene': 'AP3D1', 'score': 20.36}, {'connected_gene': 'GNA15', 'score': 20.24}, {'connected_gene': 'PIAS4', 'score': 20.04}, {'connected_gene': 'TLE2', 'score': 18.37}, {'connected_gene': 'SLC39A3', 'score': 13.38}, {'connected_gene': 'ENSG00000267138', 'score': 13.2}, {'connected_gene': 'NCLN', 'score': 12.55}, {'connected_gene': 'FZR1', 'score': 12.39}, {'connected_gene': 'C19orf71', 'score': 12.15}, {'connected_gene': 'ENSG00000267205', 'score': 11.94}, {'connected_gene': 'LOC101928631', 'score': 11.81}, {'connected_gene': 'AES', 'score': 11.71}, {'connected_gene': 'ZNF554', 'score': 11.5}, {'connected_gene': 'ENSG00000267139', 'score': 10.76}, {'connected_gene': 'APBA3', 'score': 9.69}, {'connected_gene': 'S1PR4', 'score': 1.62}]
chr19 GH19I003175 3175643 3177826 1.37 [{'connected_gene': 'GC19M003171', 'score': 550.77}, {'connected_gene': 'SF3A2', 'score': 21.35}, {'connected_gene': 'GNA15', 'score': 20.61}, {'connected_gene': 'APBA3', 'score': 18.52}, {'connected_gene': 'S1PR4', 'score': 17.72}, {'connected_gene': 'CACTIN-AS1', 'score': 15.34}, {'connected_gene': 'ENSG00000267139', 'score': 12.09}, {'connected_gene': 'GNA11', 'score': 11.76}, {'connected_gene': 'CACTIN', 'score': 11.21}, {'connected_gene': 'ENSG00000268670', 'score': 11.13}, {'connected_gene': 'ZNF77', 'score': 10.18}, {'connected_gene': 'MIR637', 'score': 5.42}, {'connected_gene': 'AES', 'score': 2.59}]
chr19 GH19I003052 3052842 3053572 0.79 [{'connected_gene': 'ENSG00000267469', 'score': 550.77}, {'connected_gene': 'TLE6', 'score': 11.68}, {'connected_gene': 'GNA11', 'score': 11.64}, {'connected_gene': 'GC19P003056', 'score': 0.77}, {'connected_gene': 'AES', 'score': 0.44}, {'connected_gene': 'GC19M003048', 'score': 0.44}]
chr19 GH19I003024 3024370 3026155 1.1 [{'connected_gene': 'GC19M003020', 'score': 550.77}, {'connected_gene': 'TLE6', 'score': 12.63}, {'connected_gene': 'AES', 'score': 12.53}, {'connected_gene': 'GNA11', 'score': 12.1}, {'connected_gene': 'TLE2', 'score': 5.61}]
chr19 GH19I003054 3054229 3059075 1.12 [{'connected_gene': 'GC19P003056', 'score': 550.77}, {'connected_gene': 'GC19M003048', 'score': 550.77}, {'connected_gene': 'CACTIN', 'score': 32.33}, {'connected_gene': 'ZNF77', 'score': 30.13}, {'connected_gene': 'SF3A2', 'score': 28.46}, {'connected_gene': 'CACTIN-AS1', 'score': 23.5}, {'connected_gene': 'TLE6', 'score': 11.68}, {'connected_gene': 'GNA11', 'score': 11.66}, {'connected_gene': 'SPPL2B', 'score': 11.63}, {'connected_gene': 'ENSG00000267139', 'score': 10.78}, {'connected_gene': 'ZNF555', 'score': 10.52}, {'connected_gene': 'DOT1L', 'score': 10.51}, {'connected_gene': 'APBA3', 'score': 9.95}, {'connected_gene': 'AES', 'score': 9.9}, {'connected_gene': 'LMNB2', 'score': 9.85}, {'connected_gene': 'AP3D1', 'score': 9.69}, {'connected_gene': 'GIPC3', 'score': 5.31}, {'connected_gene': 'ENSG00000267469', 'score': 0.77}]
chr19 GH19I003065 3065160 3066788 1.33 [{'connected_gene': 'GC19P003066', 'score': 550.77}, {'connected_gene': 'CACTIN', 'score': 14.47}, {'connected_gene': 'ZNF77', 'score': 13.45}, {'connected_gene': 'SF3A2', 'score': 13.08}, {'connected_gene': 'CACTIN-AS1', 'score': 10.16}, {'connected_gene': 'AES', 'score': 9.04}, {'connected_gene': 'LOC105372242', 'score': 0.44}]
chr19 GH19I003231 3231386 3231774 0.58 [{'connected_gene': 'GC19M003224', 'score': 550.77}, {'connected_gene': 'GC19M003223', 'score': 550.77}, {'connected_gene': 'ZNF77', 'score': 21.61}, {'connected_gene': 'CACTIN', 'score': 14.59}, {'connected_gene': 'CACTIN-AS1', 'score': 12.01}, {'connected_gene': 'NCLN', 'score': 11.67}, {'connected_gene': 'S1PR4', 'score': 11.64}, {'connected_gene': 'TLE6', 'score': 10.89}, {'connected_gene': 'AES', 'score': 10.41}, {'connected_gene': 'SF3A2', 'score': 9.8}, {'connected_gene': 'CELF5', 'score': 5.94}, {'connected_gene': 'ZNF555', 'score': 1.21}, {'connected_gene': 'TLE2', 'score': 1.21}]
chr19 GH19I002968 2968422 2975400 1.4 [{'connected_gene': 'GC19M002962', 'score': 550.77}, {'connected_gene': 'NCLN', 'score': 21.47}, {'connected_gene': 'TLE6', 'score': 15.84}, {'connected_gene': 'TLE2', 'score': 14.58}, {'connected_gene': 'AES', 'score': 12.13}, {'connected_gene': 'ZNF77', 'score': 11.66}, {'connected_gene': 'GNA11', 'score': 11.4}, {'connected_gene': 'LOC101928631', 'score': 11.36}, {'connected_gene': 'ZNF57', 'score': 11.31}, {'connected_gene': 'S1PR4', 'score': 11.2}, {'connected_gene': 'ENSG00000267283', 'score': 10.25}, {'connected_gene': 'SLC39A3', 'score': 9.78}, {'connected_gene': 'NFIC', 'score': 1.69}, {'connected_gene': 'GC19P002969', 'score': 0.77}]
chr19 GH19I003164 3164601 3166446 1.28 [{'connected_gene': 'GC19M003162', 'score': 550.77}, {'connected_gene': 'GNA15', 'score': 24.33}, {'connected_gene': 'GNA11', 'score': 12.02}, {'connected_gene': 'AES', 'score': 11.49}, {'connected_gene': 'APBA3', 'score': 5.23}, {'connected_gene': 'S1PR4', 'score': 4.64}, {'connected_gene': 'FZR1', 'score': 3.98}, {'connected_gene': 'GC19M003161', 'score': 0.77}]
chr19 GH19I003169 3169201 3170400 0.2 [{'connected_gene': 'GC19M003170', 'score': 550.77}, {'connected_gene': 'GC19M003169', 'score': 550.77}, {'connected_gene': 'GNA15', 'score': 26.12}, {'connected_gene': 'GNA11', 'score': 12.01}, {'connected_gene': 'AES', 'score': 11.49}, {'connected_gene': 'S1PR4', 'score': 0.77}, {'connected_gene': 'GC19M003171', 'score': 0.44}]
chr19 GH19I003163 3162523 3162672 0.77 [{'connected_gene': 'GC19M003161', 'score': 550.77}, {'connected_gene': 'GNA15', 'score': 39.43}, {'connected_gene': 'GNA11', 'score': 12.04}, {'connected_gene': 'AES', 'score': 11.5}, {'connected_gene': 'GC19M003162', 'score': 0.77}]
chr19 GH19I003067 3067524 3068725 0.78 [{'connected_gene': 'GC19P003066', 'score': 550.77}, {'connected_gene': 'GNA11', 'score': 12.69}, {'connected_gene': 'TLE6', 'score': 11.81}, {'connected_gene': 'ZNF77', 'score': 11.14}, {'connected_gene': 'AES', 'score': 6.74}, {'connected_gene': 'LOC105372242', 'score': 0.44}]
chr19 GH19I003050 3050914 3051473 0.66 [{'connected_gene': 'ENSG00000267469', 'score': 550.77}, {'connected_gene': 'AES', 'score': 7.37}, {'connected_gene': 'TLE2', 'score': 0.77}, {'connected_gene': 'GC19M003048', 'score': 0.44}]
chr19 GH19I003125 3125001 3125600 0.88 [{'connected_gene': 'GC19M003113', 'score': 550.77}, {'connected_gene': 'GC19M003115', 'score': 550.77}, {'connected_gene': 'GC19M003114', 'score': 550.77}, {'connected_gene': 'LOC105372243', 'score': 550.77}, {'connected_gene': 'GNA11', 'score': 18.77}, {'connected_gene': 'S1PR4', 'score': 12.57}, {'connected_gene': 'NCLN', 'score': 12.53}, {'connected_gene': 'AES', 'score': 12.0}, {'connected_gene': 'LOC390876', 'score': 0.44}]
chr19 GH19I003124 3124674 3124912 0.5 [{'connected_gene': 'GC19M003113', 'score': 550.77}, {'connected_gene': 'GC19M003115', 'score': 550.77}, {'connected_gene': 'GC19M003114', 'score': 550.77}, {'connected_gene': 'LOC105372243', 'score': 550.77}, {'connected_gene': 'GNA11', 'score': 12.93}, {'connected_gene': 'S1PR4', 'score': 12.57}, {'connected_gene': 'NCLN', 'score': 12.53}, {'connected_gene': 'AES', 'score': 12.0}, {'connected_gene': 'GNA15', 'score': 2.11}]
chr19 GH19I003126 3126083 3126312 0.78 [{'connected_gene': 'GC19M003113', 'score': 550.77}, {'connected_gene': 'GC19M003115', 'score': 550.77}, {'connected_gene': 'GC19M003114', 'score': 550.77}, {'connected_gene': 'LOC105372243', 'score': 550.77}, {'connected_gene': 'GNA11', 'score': 18.23}, {'connected_gene': 'CACTIN', 'score': 14.47}, {'connected_gene': 'ZNF77', 'score': 13.41}, {'connected_gene': 'SF3A2', 'score': 13.07}, {'connected_gene': 'S1PR4', 'score': 12.57}, {'connected_gene': 'NCLN', 'score': 12.55}, {'connected_gene': 'AES', 'score': 12.0}, {'connected_gene': 'CACTIN-AS1', 'score': 10.18}, {'connected_gene': 'LOC390876', 'score': 0.77}]

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