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
ENST00000158149 [[3714459, 3716573], [3717615, 3717777], [3719409, 3719564], [3721556, 3721866], [3724542, 3724646], [3725246, 3725346], [3727353, 3727386], [3728235, 3728344], [3729060, 3729137], [3729380, 3729509], [3732536, 3732662], [3743393, 3743499], [3746379, 3746445], [3749334, 3749540]] [[3716337, 3716573], [3717615, 3717777], [3719409, 3719564], [3721556, 3721866], [3724542, 3724646], [3725246, 3725302]]
ENST00000574911 [[3714816, 3716573], [3717615, 3717777], [3719409, 3719564], [3721556, 3721866], [3724542, 3724646], [3725246, 3725346], [3727353, 3727386], [3728235, 3728315]] [[3727357, 3727386], [3728235, 3728315]]
ENST00000575815 [[3714821, 3716573], [3717615, 3717777], [3719409, 3719564], [3721556, 3721866], [3724542, 3724646], [3725246, 3725346], [3727086, 3728344], [3729060, 3729137], [3729380, 3729509], [3732536, 3732585]] None
ENST00000389005 [[3715440, 3716573], [3717615, 3717777], [3719409, 3719564], [3721556, 3721866], [3724542, 3724646], [3725246, 3725346], [3728235, 3728344], [3729060, 3729137], [3729380, 3729509], [3732536, 3732662], [3743393, 3743499], [3746379, 3746445], [3749334, 3749545]] [[3716337, 3716573], [3717615, 3717777], [3719409, 3719564], [3721556, 3721866], [3724542, 3724646], [3725246, 3725346], [3728235, 3728344], [3729060, 3729137], [3729380, 3729509], [3732536, 3732662], [3743393, 3743499], [3746379, 3746445], [3749334, 3749517]]
ENST00000576523 [[3715833, 3715948], [3716410, 3716544]] [[3715839, 3715948], [3716410, 3716544]]
ENST00000574379 [[3721556, 3721866], [3724542, 3724646], [3725246, 3725750]] None
ENST00000577169 [[3725797, 3726192], [3727353, 3727386], [3728235, 3728344], [3729060, 3729137], [3729380, 3729411]] None
NM_001114118 [[3710041, 3716573], [3717615, 3717777], [3719409, 3719564], [3721556, 3721866], [3724542, 3724646], [3725246, 3725346], [3728235, 3728344], [3729060, 3729137], [3729380, 3729509], [3732536, 3732662], [3743393, 3743499], [3746379, 3746445], [3749334, 3749545]] [[3716337, 3716573], [3717615, 3717777], [3719409, 3719564], [3721556, 3721866], [3724542, 3724646], [3725246, 3725346], [3728235, 3728344], [3729060, 3729137], [3729380, 3729509], [3732536, 3732662], [3743393, 3743499], [3746379, 3746445], [3749334, 3749517]]
Promoter
Chrom Start End Description
chr17 3749515 3749551 CAGE_peak_1_at_C17orf85_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I003866 3866664 3866758 0.2 [{'connected_gene': 'CAMKK1', 'score': 13.28}, {'connected_gene': 'NCBP3', 'score': 12.29}, {'connected_gene': 'HASPIN', 'score': 11.26}, {'connected_gene': 'GC17P003894', 'score': 0.31}]
chr17 GH17I003870 3870700 3871400 0.74 [{'connected_gene': 'CAMKK1', 'score': 13.3}, {'connected_gene': 'NCBP3', 'score': 12.29}, {'connected_gene': 'HASPIN', 'score': 11.26}, {'connected_gene': 'GC17P003894', 'score': 0.34}]
chr17 GH17I003857 3857807 3857956 0.38 [{'connected_gene': 'CAMKK1', 'score': 11.83}, {'connected_gene': 'NCBP3', 'score': 0.39}, {'connected_gene': 'GC17P003894', 'score': 0.28}]
chr17 GH17I003878 3878847 3880634 0.89 [{'connected_gene': 'CAMKK1', 'score': 6.07}, {'connected_gene': 'GC17P003894', 'score': 0.39}, {'connected_gene': 'NCBP3', 'score': 0.29}]
chr17 GH17I003885 3885071 3896001 2.57 [{'connected_gene': 'CAMKK1', 'score': 561.76}, {'connected_gene': 'ANKFY1', 'score': 81.55}, {'connected_gene': 'MYBBP1A', 'score': 49.3}, {'connected_gene': 'PELP1', 'score': 45.11}, {'connected_gene': 'ENSG00000235085', 'score': 32.16}, {'connected_gene': 'LOC105371492', 'score': 20.16}, {'connected_gene': 'ZZEF1', 'score': 19.94}, {'connected_gene': 'P2RX1', 'score': 18.28}, {'connected_gene': 'SHPK', 'score': 11.66}, {'connected_gene': 'NCBP3', 'score': 11.61}, {'connected_gene': 'OR1E2', 'score': 2.47}, {'connected_gene': 'HASPIN', 'score': 1.45}, {'connected_gene': 'GC17P003894', 'score': 0.77}]
chr17 GH17I003777 3777188 3778417 0.31 [{'connected_gene': 'HASPIN', 'score': 12.14}, {'connected_gene': 'NCBP3', 'score': 11.5}, {'connected_gene': 'TM4SF5', 'score': 5.75}, {'connected_gene': 'ITGAE', 'score': 0.34}, {'connected_gene': 'ENSG00000262358', 'score': 0.25}]
chr17 GH17I003791 3791400 3792200 1.18 [{'connected_gene': 'HASPIN', 'score': 11.98}, {'connected_gene': 'NCBP3', 'score': 11.47}, {'connected_gene': 'EMC6', 'score': 11.22}, {'connected_gene': 'TAX1BP3', 'score': 11.22}, {'connected_gene': 'CTNS', 'score': 2.97}, {'connected_gene': 'ZZEF1', 'score': 2.4}, {'connected_gene': 'P2RX1', 'score': 1.35}, {'connected_gene': 'ITGAE', 'score': 0.44}, {'connected_gene': 'ENSG00000262358', 'score': 0.21}]
chr17 GH17I003773 3773600 3773801 0.43 [{'connected_gene': 'HASPIN', 'score': 12.15}, {'connected_gene': 'NCBP3', 'score': 11.48}, {'connected_gene': 'ITGAE', 'score': 0.31}, {'connected_gene': 'ENSG00000262358', 'score': 0.26}]
chr17 GH17I003780 3780843 3781532 0.2 [{'connected_gene': 'HASPIN', 'score': 12.25}, {'connected_gene': 'NCBP3', 'score': 12.21}, {'connected_gene': 'ITGAE', 'score': 0.34}, {'connected_gene': 'ENSG00000262358', 'score': 0.23}]
chr17 GH17I003788 3788307 3788456 0.31 [{'connected_gene': 'HASPIN', 'score': 12.24}, {'connected_gene': 'NCBP3', 'score': 12.23}, {'connected_gene': 'ITGAE', 'score': 0.39}, {'connected_gene': 'ENSG00000262358', 'score': 0.22}]
chr17 GH17I003759 3759169 3760497 0.52 [{'connected_gene': 'HASPIN', 'score': 12.77}, {'connected_gene': 'NCBP3', 'score': 11.77}, {'connected_gene': 'TAX1BP3', 'score': 11.43}, {'connected_gene': 'EMC6', 'score': 11.43}, {'connected_gene': 'P2RX5', 'score': 11.26}, {'connected_gene': 'ENSG00000262358', 'score': 0.29}, {'connected_gene': 'ITGAE', 'score': 0.26}]
chr17 GH17I003792 3792477 3793075 0.4 [{'connected_gene': 'HASPIN', 'score': 11.98}, {'connected_gene': 'NCBP3', 'score': 11.47}, {'connected_gene': 'TAX1BP3', 'score': 11.22}, {'connected_gene': 'EMC6', 'score': 11.22}, {'connected_gene': 'ITGAE', 'score': 0.44}, {'connected_gene': 'ENSG00000262358', 'score': 0.21}]
chr17 GH17I003789 3789718 3790357 0.2 [{'connected_gene': 'HASPIN', 'score': 12.24}, {'connected_gene': 'NCBP3', 'score': 12.23}, {'connected_gene': 'TAX1BP3', 'score': 11.22}, {'connected_gene': 'EMC6', 'score': 11.22}, {'connected_gene': 'ITGAE', 'score': 0.39}, {'connected_gene': 'ENSG00000262358', 'score': 0.21}]
chr17 GH17I003790 3790401 3790800 0.4 [{'connected_gene': 'HASPIN', 'score': 11.98}, {'connected_gene': 'NCBP3', 'score': 11.46}, {'connected_gene': 'TAX1BP3', 'score': 11.22}, {'connected_gene': 'EMC6', 'score': 11.22}, {'connected_gene': 'ITGAE', 'score': 0.39}, {'connected_gene': 'ENSG00000262358', 'score': 0.21}]
chr17 GH17I003760 3760715 3761761 0.31 [{'connected_gene': 'HASPIN', 'score': 12.58}, {'connected_gene': 'NCBP3', 'score': 11.77}, {'connected_gene': 'TAX1BP3', 'score': 11.43}, {'connected_gene': 'EMC6', 'score': 11.43}, {'connected_gene': 'ENSG00000262358', 'score': 0.29}, {'connected_gene': 'ITGAE', 'score': 0.26}]
chr17 GH17I003750 3750530 3751779 1.25 [{'connected_gene': 'HASPIN', 'score': 12.8}, {'connected_gene': 'P2RX5', 'score': 11.26}, {'connected_gene': 'NCBP3', 'score': 11.19}, {'connected_gene': 'OR1E2', 'score': 4.09}, {'connected_gene': 'OR3A2', 'score': 2.78}, {'connected_gene': 'ATP2A3', 'score': 1.35}, {'connected_gene': 'ENSG00000262358', 'score': 0.34}, {'connected_gene': 'ITGAE', 'score': 0.23}]
chr17 GH17I003751 3751919 3752546 0.54 [{'connected_gene': 'HASPIN', 'score': 12.8}, {'connected_gene': 'P2RX5', 'score': 11.25}, {'connected_gene': 'NCBP3', 'score': 11.19}, {'connected_gene': 'ENSG00000262358', 'score': 0.34}, {'connected_gene': 'ITGAE', 'score': 0.25}]
chr17 GH17I003753 3753333 3754139 0.2 [{'connected_gene': 'HASPIN', 'score': 12.8}, {'connected_gene': 'P2RX5', 'score': 11.25}, {'connected_gene': 'NCBP3', 'score': 11.19}, {'connected_gene': 'ENSG00000262358', 'score': 0.34}, {'connected_gene': 'ITGAE', 'score': 0.25}]
chr17 GH17I003754 3754292 3756106 1.21 [{'connected_gene': 'HASPIN', 'score': 12.78}, {'connected_gene': 'P2RX5', 'score': 11.25}, {'connected_gene': 'NCBP3', 'score': 11.19}, {'connected_gene': 'ENSG00000262358', 'score': 0.31}, {'connected_gene': 'ITGAE', 'score': 0.25}]
chr17 GH17I003833 3833250 3836302 0.43 [{'connected_gene': 'HASPIN', 'score': 11.71}, {'connected_gene': 'P2RX5', 'score': 11.54}, {'connected_gene': 'NCBP3', 'score': 5.99}, {'connected_gene': 'GC17P003828', 'score': 0.44}]
chr17 GH17I003837 3837371 3840199 0.56 [{'connected_gene': 'HASPIN', 'score': 11.71}, {'connected_gene': 'P2RX5', 'score': 11.53}, {'connected_gene': 'NCBP3', 'score': 6.28}, {'connected_gene': 'GC17P003828', 'score': 0.39}]
chr17 GH17I003859 3859886 3861130 0.38 [{'connected_gene': 'NCBP3', 'score': 0.39}, {'connected_gene': 'GC17P003894', 'score': 0.29}, {'connected_gene': 'CAMKK1', 'score': 0.29}]
chr17 GH17I003907 3907627 3907776 0.69 [{'connected_gene': 'NCBP3', 'score': 11.36}, {'connected_gene': 'ATP2A3', 'score': 10.99}, {'connected_gene': 'HASPIN', 'score': 10.36}, {'connected_gene': 'GC17M003905', 'score': 0.77}, {'connected_gene': 'P2RX1', 'score': 0.44}, {'connected_gene': 'CAMKK1', 'score': 0.39}]
chr17 GH17I003844 3844932 3846956 2.07 [{'connected_gene': 'NCBP3', 'score': 550.77}, {'connected_gene': 'SHPK', 'score': 11.67}, {'connected_gene': 'ZZEF1', 'score': 11.01}, {'connected_gene': 'ANKFY1', 'score': 10.13}, {'connected_gene': 'MYBBP1A', 'score': 9.97}, {'connected_gene': 'PELP1', 'score': 9.88}, {'connected_gene': 'GC17P003828', 'score': 0.37}]
chr17 GH17I003968 3968127 3968258 0.51 [{'connected_gene': 'NCBP3', 'score': 10.73}, {'connected_gene': 'CYB5D2', 'score': 10.27}, {'connected_gene': 'ZZEF1', 'score': 10.27}, {'connected_gene': 'ATP2A3', 'score': 0.77}, {'connected_gene': 'LINC01975', 'score': 0.44}]
chr17 GH17I004033 4033518 4034391 0.7 [{'connected_gene': 'NCBP3', 'score': 11.02}, {'connected_gene': 'CYB5D2', 'score': 10.69}, {'connected_gene': 'ZZEF1', 'score': 10.69}, {'connected_gene': 'RNA5SP434', 'score': 0.34}, {'connected_gene': 'GC17M004011', 'score': 0.34}]
chr17 GH17I003845 3844047 3844196 0.59 [{'connected_gene': 'NCBP3', 'score': 0.77}, {'connected_gene': 'GC17P003828', 'score': 0.37}]
chr17 GH17I004006 4006441 4009862 0.78 [{'connected_gene': 'ATP2A3', 'score': 12.72}, {'connected_gene': 'CAMKK1', 'score': 11.57}, {'connected_gene': 'NCBP3', 'score': 11.14}, {'connected_gene': 'CYB5D2', 'score': 8.67}, {'connected_gene': 'GC17P004011', 'score': 0.77}, {'connected_gene': 'GC17P004012', 'score': 0.77}, {'connected_gene': 'GC17M003990', 'score': 0.37}, {'connected_gene': 'ZZEF1', 'score': 0.12}]
chr17 GH17I004045 4045554 4045851 0.2 [{'connected_gene': 'ATP2A3', 'score': 11.49}, {'connected_gene': 'CAMKK1', 'score': 11.15}, {'connected_gene': 'NCBP3', 'score': 10.82}, {'connected_gene': 'RNA5SP434', 'score': 0.39}, {'connected_gene': 'GC17M004011', 'score': 0.29}, {'connected_gene': 'ZZEF1', 'score': 0.15}]
chr17 GH17I003959 3959060 3968077 2.72 [{'connected_gene': 'ATP2A3', 'score': 559.89}, {'connected_gene': 'ZZEF1', 'score': 16.44}, {'connected_gene': 'NCBP3', 'score': 10.73}, {'connected_gene': 'CYB5D2', 'score': 10.27}, {'connected_gene': 'LINC01975', 'score': 6.78}, {'connected_gene': 'P2RX1', 'score': 4.93}, {'connected_gene': 'CTNS', 'score': 1.54}, {'connected_gene': 'GC17P003938', 'score': 0.34}]
chr17 GH17I003798 3798002 3806070 2.16 [{'connected_gene': 'ITGAE', 'score': 550.77}, {'connected_gene': 'HASPIN', 'score': 11.95}, {'connected_gene': 'P2RX5', 'score': 11.53}, {'connected_gene': 'NCBP3', 'score': 5.11}, {'connected_gene': 'ZZEF1', 'score': 3.18}, {'connected_gene': 'CTNS', 'score': 2.55}, {'connected_gene': 'P2RX1', 'score': 1.72}, {'connected_gene': 'GC17M003807', 'score': 0.44}]
chr17 GH17I004042 4042972 4044276 0.38 [{'connected_gene': 'CYB5D2', 'score': 22.05}, {'connected_gene': 'CAMKK1', 'score': 11.96}, {'connected_gene': 'ATP2A3', 'score': 11.5}, {'connected_gene': 'ZZEF1', 'score': 10.91}, {'connected_gene': 'NCBP3', 'score': 10.91}, {'connected_gene': 'HASPIN', 'score': 10.29}, {'connected_gene': 'RNA5SP434', 'score': 0.39}, {'connected_gene': 'GC17M004011', 'score': 0.29}]
chr17 GH17I003827 3827247 3827416 0.68 [{'connected_gene': 'GC17P003828', 'score': 550.77}, {'connected_gene': 'HASPIN', 'score': 12.51}, {'connected_gene': 'P2RX5', 'score': 11.59}, {'connected_gene': 'CAMKK1', 'score': 10.88}, {'connected_gene': 'GC17P003825', 'score': 0.77}, {'connected_gene': 'NCBP3', 'score': 0.37}]
chr17 GH17I003828 3827747 3829764 0.52 [{'connected_gene': 'GC17P003828', 'score': 550.77}, {'connected_gene': 'HASPIN', 'score': 12.51}, {'connected_gene': 'P2RX5', 'score': 11.59}, {'connected_gene': 'CAMKK1', 'score': 10.88}, {'connected_gene': 'NCBP3', 'score': 4.92}, {'connected_gene': 'GC17P003825', 'score': 0.77}]
chr17 GH17I003808 3808267 3809788 0.54 [{'connected_gene': 'GC17M003807', 'score': 550.77}, {'connected_gene': 'PIR46371', 'score': 550.77}, {'connected_gene': 'GC17M003810', 'score': 550.77}, {'connected_gene': 'NCBP3', 'score': 17.77}, {'connected_gene': 'HASPIN', 'score': 12.33}, {'connected_gene': 'CAMKK1', 'score': 10.86}]
chr17 GH17I003812 3812195 3813978 0.2 [{'connected_gene': 'GC17M003812', 'score': 550.77}, {'connected_gene': 'PIR49371', 'score': 550.77}, {'connected_gene': 'GC17P003825', 'score': 0.39}, {'connected_gene': 'NCBP3', 'score': 0.29}]
chr17 GH17I003818 3818401 3819304 0.38 [{'connected_gene': 'GC17P003825', 'score': 0.44}, {'connected_gene': 'GC17M003812', 'score': 0.44}, {'connected_gene': 'PIR49371', 'score': 0.44}, {'connected_gene': 'NCBP3', 'score': 0.31}]
chr17 GH17I004013 4013702 4015354 0.84 [{'connected_gene': 'GC17M004011', 'score': 550.77}, {'connected_gene': 'P2RX1', 'score': 12.42}, {'connected_gene': 'ATP2A3', 'score': 12.01}, {'connected_gene': 'NCBP3', 'score': 11.39}, {'connected_gene': 'ANKFY1', 'score': 5.55}, {'connected_gene': 'GC17P004011', 'score': 0.77}, {'connected_gene': 'GC17P004013', 'score': 0.77}, {'connected_gene': 'GC17P004012', 'score': 0.77}, {'connected_gene': 'RNA5SP434', 'score': 0.26}, {'connected_gene': 'ZZEF1', 'score': 0.13}]
chr17 GH17I004174 4174587 4180062 0.83 [{'connected_gene': 'PIR52300', 'score': 550.77}, {'connected_gene': 'ZZEF1', 'score': 15.9}, {'connected_gene': 'CYB5D2', 'score': 7.43}, {'connected_gene': 'ATP2A3', 'score': 5.71}, {'connected_gene': 'TM4SF5', 'score': 4.47}, {'connected_gene': 'UBE2G1', 'score': 3.43}, {'connected_gene': 'P2RX1', 'score': 2.97}, {'connected_gene': 'NCBP3', 'score': 1.3}, {'connected_gene': 'PIR35722', 'score': 0.77}, {'connected_gene': 'GC17M004177', 'score': 0.77}, {'connected_gene': 'ANKFY1', 'score': 0.17}]

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