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
ENST00000334049 [[11688954, 11689938], [11752851, 11752924], [11753626, 11753681], [11753824, 11753944], [11824916, 11825014], [11862393, 11862448], [11864531, 11864605], [11867166, 11867225], [11868541, 11868662], [11872266, 11872397], [11876619, 11876687], [11880987, 11885684]] [[11689562, 11689938], [11752851, 11752924], [11753626, 11753681], [11753824, 11753944], [11824916, 11825014], [11862393, 11862448], [11864531, 11864605], [11867166, 11867225], [11868541, 11868662], [11872266, 11872397], [11876619, 11876687], [11880987, 11881134]]
ENST00000535121 [[11751470, 11751507], [11752330, 11752577], [11752851, 11752924], [11753626, 11753681], [11753824, 11753944], [11824916, 11825014], [11862393, 11862448], [11864531, 11864605], [11867166, 11867225], [11868541, 11868662], [11872266, 11872397], [11876619, 11876687], [11880987, 11881134]] [[11752432, 11752577], [11752851, 11752924], [11753626, 11753681], [11753824, 11753944], [11824916, 11825014], [11862393, 11862448], [11864531, 11864605], [11867166, 11867225], [11868541, 11868662], [11872266, 11872397], [11876619, 11876687], [11880987, 11881134]]
ENST00000269162 [[11751506, 11751705], [11752330, 11752577], [11752851, 11752924], [11753626, 11753681], [11753824, 11753944], [11824916, 11825014], [11862393, 11862448], [11864531, 11864605], [11867166, 11867225], [11868541, 11868662], [11872266, 11872397], [11876619, 11876687], [11880987, 11881409]] [[11752432, 11752577], [11752851, 11752924], [11753626, 11753681], [11753824, 11753944], [11824916, 11825014], [11862393, 11862448], [11864531, 11864605], [11867166, 11867225], [11868541, 11868662], [11872266, 11872397], [11876619, 11876687], [11880987, 11881134]]
ENST00000423027 [[11752111, 11752577], [11752851, 11752924], [11753626, 11753681], [11753824, 11753944], [11824916, 11825014], [11862393, 11862448], [11864531, 11864605], [11867166, 11867225], [11868541, 11868662], [11872266, 11872397], [11876619, 11876687], [11880987, 11881922]] [[11752432, 11752577], [11752851, 11752924], [11753626, 11753681], [11753824, 11753944], [11824916, 11825014], [11862393, 11862448], [11864531, 11864605], [11867166, 11867225], [11868541, 11868662], [11872266, 11872397], [11876619, 11876687], [11880987, 11881134]]
ENST00000585642 [[11752804, 11752924], [11753626, 11753681], [11753824, 11753944], [11824916, 11825014], [11862393, 11862448], [11864531, 11864605], [11867166, 11867225], [11868541, 11868583]] [[11752889, 11752924], [11753626, 11753681], [11753824, 11753944], [11824916, 11825014], [11862393, 11862448], [11864531, 11864605], [11867166, 11867225], [11868541, 11868583]]
ENST00000590972 [[11752882, 11752924], [11753626, 11753681], [11753824, 11753944], [11824916, 11825014], [11833504, 11833666]] None
ENST00000590228 [[11753546, 11753681], [11753824, 11753944], [11824916, 11825014], [11862393, 11862448], [11864531, 11864605], [11867166, 11867225], [11868541, 11868585]] [[11753839, 11753944], [11824916, 11825014], [11862393, 11862448], [11864531, 11864605], [11867166, 11867225], [11868541, 11868585]]
ENST00000585590 [[11689688, 11689938], [11702069, 11702290]] None
ENST00000602628 [[11857438, 11857784], [11862393, 11862448], [11864531, 11864605], [11867166, 11867225], [11868541, 11868662], [11872266, 11872397], [11876619, 11876687], [11880987, 11881171]] [[11867167, 11867225], [11868541, 11868662], [11872266, 11872397], [11876619, 11876687], [11880987, 11881134]]
ENST00000586926 [[11872299, 11872397], [11874049, 11874402]] [[11872299, 11872397], [11874049, 11874115]]
NM_182978 [[11689013, 11689938], [11752851, 11752924], [11753626, 11753681], [11753824, 11753944], [11824916, 11825014], [11862393, 11862448], [11864531, 11864605], [11867166, 11867225], [11868541, 11868662], [11872266, 11872397], [11876619, 11876687], [11880987, 11885684]] [[11689562, 11689938], [11752851, 11752924], [11753626, 11753681], [11753824, 11753944], [11824916, 11825014], [11862393, 11862448], [11864531, 11864605], [11867166, 11867225], [11868541, 11868662], [11872266, 11872397], [11876619, 11876687], [11880987, 11881134]]
NM_001261443 [[11751470, 11751507], [11752330, 11752577], [11752851, 11752924], [11753626, 11753681], [11753824, 11753944], [11824916, 11825014], [11862393, 11862448], [11864531, 11864605], [11867166, 11867225], [11868541, 11868662], [11872266, 11872397], [11876619, 11876687], [11880987, 11885684]] [[11752432, 11752577], [11752851, 11752924], [11753626, 11753681], [11753824, 11753944], [11824916, 11825014], [11862393, 11862448], [11864531, 11864605], [11867166, 11867225], [11868541, 11868662], [11872266, 11872397], [11876619, 11876687], [11880987, 11881134]]
NM_001142339 [[11751470, 11751705], [11752330, 11752577], [11752851, 11752924], [11753626, 11753681], [11753824, 11753944], [11824916, 11825014], [11862393, 11862448], [11864531, 11864605], [11867166, 11867225], [11868541, 11868662], [11872266, 11872397], [11876619, 11876687], [11880987, 11885684]] [[11752432, 11752577], [11752851, 11752924], [11753626, 11753681], [11753824, 11753944], [11824916, 11825014], [11862393, 11862448], [11864531, 11864605], [11867166, 11867225], [11868541, 11868662], [11872266, 11872397], [11876619, 11876687], [11880987, 11881134]]
NM_001261444 [[11857436, 11857784], [11862393, 11862448], [11864531, 11864605], [11867166, 11867225], [11868541, 11868662], [11872266, 11872397], [11876619, 11876687], [11880987, 11885684]] [[11867167, 11867225], [11868541, 11868662], [11872266, 11872397], [11876619, 11876687], [11880987, 11881134]]
Promoter
Chrom Start End Description
chr18 11689175 11689205 CAGE_peak_9_at_GNAL_5end
chr18 11689217 11689247 CAGE_peak_6_at_GNAL_5end
chr18 11689249 11689305 CAGE_peak_1_at_GNAL_5end
chr18 11689520 11689566 CAGE_peak_5_at_GNAL_5end
chr18 11751466 11751475 CAGE_peak_22_at_GNAL_5end
chr18 11751493 11751507 CAGE_peak_12_at_GNAL_5end
chr18 11751516 11751523 CAGE_peak_17_at_GNAL_5end
chr18 11751532 11751546 CAGE_peak_13_at_GNAL_5end
chr18 11751553 11751597 CAGE_peak_4_at_GNAL_5end
chr18 11751608 11751632 CAGE_peak_8_at_GNAL_5end
chr18 11752040 11752117 CAGE_peak_3_at_GNAL_5end
chr18 11752139 11752148 CAGE_peak_27_at_GNAL_5end
chr18 11752301 11752337 CAGE_peak_7_at_GNAL_5end
chr18 11752392 11752414 CAGE_peak_11_at_GNAL_5end
chr18 11752509 11752540 CAGE_peak_10_at_GNAL_5end
chr18 11857459 11857470 CAGE_peak_20_at_GNAL_5end
chr18 11857745 11857759 CAGE_peak_2_at_GNAL_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I011884 11884603 11886053 1.1 [{'connected_gene': 'MPPE1', 'score': 18.32}, {'connected_gene': 'CHMP1B', 'score': 12.09}, {'connected_gene': 'IMPA2', 'score': 10.57}, {'connected_gene': 'ENSG00000267199', 'score': 4.53}, {'connected_gene': 'PIR50553', 'score': 0.44}, {'connected_gene': 'ENSG00000273141', 'score': 0.34}, {'connected_gene': 'GNAL', 'score': 0.08}]
chr18 GH18I011882 11882604 11884360 1 [{'connected_gene': 'MPPE1', 'score': 12.78}, {'connected_gene': 'CHMP1B', 'score': 12.09}, {'connected_gene': 'IMPA2', 'score': 10.57}, {'connected_gene': 'PIR50553', 'score': 0.44}, {'connected_gene': 'ENSG00000273141', 'score': 0.31}, {'connected_gene': 'GNAL', 'score': 0.08}]
chr18 GH18I011732 11732915 11733600 0.89 [{'connected_gene': 'MPPE1', 'score': 10.61}, {'connected_gene': 'ASNSP6', 'score': 0.39}, {'connected_gene': 'PIR33572', 'score': 0.31}, {'connected_gene': 'GNAL', 'score': 0.26}]
chr18 GH18I011806 11806800 11809874 1.04 [{'connected_gene': 'CHMP1B', 'score': 11.5}, {'connected_gene': 'MPPE1', 'score': 10.36}, {'connected_gene': 'GNAL', 'score': 7.63}, {'connected_gene': 'ENSG00000267455', 'score': 0.77}, {'connected_gene': 'GC18P012628', 'score': 0.25}]
chr18 GH18I011820 11820082 11820231 0.63 [{'connected_gene': 'CHMP1B', 'score': 12.07}, {'connected_gene': 'MPPE1', 'score': 10.36}, {'connected_gene': 'ENSG00000267455', 'score': 0.44}, {'connected_gene': 'GNAL', 'score': 0.12}]
chr18 GH18I011789 11789071 11790851 0.38 [{'connected_gene': 'CHMP1B', 'score': 11.37}, {'connected_gene': 'MPPE1', 'score': 10.59}, {'connected_gene': 'ENSG00000267455', 'score': 0.34}, {'connected_gene': 'GC18P012628', 'score': 0.31}, {'connected_gene': 'GNAL', 'score': 0.15}]
chr18 GH18I011818 11818336 11819113 0.38 [{'connected_gene': 'CHMP1B', 'score': 12.19}, {'connected_gene': 'MPPE1', 'score': 10.69}, {'connected_gene': 'ENSG00000267455', 'score': 0.44}, {'connected_gene': 'GNAL', 'score': 0.13}]
chr18 GH18I011791 11791137 11791891 0.2 [{'connected_gene': 'CHMP1B', 'score': 11.17}, {'connected_gene': 'MPPE1', 'score': 10.59}, {'connected_gene': 'ENSG00000267455', 'score': 0.37}, {'connected_gene': 'GC18P012628', 'score': 0.29}, {'connected_gene': 'GNAL', 'score': 0.15}]
chr18 GH18I011840 11840406 11841026 0.8 [{'connected_gene': 'CHMP1B', 'score': 0.39}, {'connected_gene': 'ENSG00000267455', 'score': 0.31}, {'connected_gene': 'GNAL', 'score': 0.1}]
chr18 GH18I011785 11785462 11786394 0.72 [{'connected_gene': 'CHMP1B', 'score': 11.36}, {'connected_gene': 'GC18P012628', 'score': 0.34}, {'connected_gene': 'ENSG00000267455', 'score': 0.31}, {'connected_gene': 'GNAL', 'score': 0.15}]
chr18 GH18I011849 11849179 11854268 2.62 [{'connected_gene': 'CHMP1B', 'score': 555.34}, {'connected_gene': 'CHMP1B-AS1', 'score': 550.77}, {'connected_gene': 'MPPE1', 'score': 10.8}, {'connected_gene': 'PSMG2', 'score': 10.24}, {'connected_gene': 'GNAL', 'score': 6.62}]
chr18 GH18I011750 11750618 11752882 1.16 [{'connected_gene': 'GNAL', 'score': 557.88}, {'connected_gene': 'CHMP1B', 'score': 11.59}, {'connected_gene': 'MPPE1', 'score': 10.34}, {'connected_gene': 'IMPA2', 'score': 10.09}, {'connected_gene': 'GC18P012628', 'score': 0.44}, {'connected_gene': 'ASNSP6', 'score': 0.44}]
chr18 GH18I011854 11854772 11861623 2.29 [{'connected_gene': 'GNAL', 'score': 561.92}, {'connected_gene': 'ENSG00000272703', 'score': 550.77}, {'connected_gene': 'CHMP1B', 'score': 34.49}, {'connected_gene': 'ENSG00000267249', 'score': 20.63}, {'connected_gene': 'ENSG00000267199', 'score': 10.12}, {'connected_gene': 'PIR45381', 'score': 0.44}]
chr18 GH18I011846 11846236 11846389 0.22 [{'connected_gene': 'GNAL', 'score': 8.42}, {'connected_gene': 'CHMP1B', 'score': 0.44}, {'connected_gene': 'ENSG00000267455', 'score': 0.29}]
chr18 GH18I011688 11688582 11690401 2.01 [{'connected_gene': 'GNAL', 'score': 585.61}, {'connected_gene': 'PRELID3A', 'score': 19.96}, {'connected_gene': 'PSMG2', 'score': 12.23}, {'connected_gene': 'ENSG00000267199', 'score': 11.23}, {'connected_gene': 'ENSG00000267249', 'score': 10.37}, {'connected_gene': 'HMGB3P28', 'score': 10.1}, {'connected_gene': 'GC18P012632', 'score': 0.77}, {'connected_gene': 'PIRC96', 'score': 0.23}]
chr18 GH18I011713 11713882 11715012 0.2 [{'connected_gene': 'GNAL', 'score': 12.24}, {'connected_gene': 'PIR33572', 'score': 0.44}, {'connected_gene': 'ASNSP6', 'score': 0.29}]
chr18 GH18I011861 11861751 11861937 0.56 [{'connected_gene': 'GNAL', 'score': 4.62}, {'connected_gene': 'PIR45381', 'score': 0.77}, {'connected_gene': 'ENSG00000272703', 'score': 0.77}]
chr18 GH18I011810 11810002 11810171 0.31 [{'connected_gene': 'ENSG00000267455', 'score': 550.77}, {'connected_gene': 'CHMP1B', 'score': 11.5}, {'connected_gene': 'MPPE1', 'score': 10.36}, {'connected_gene': 'GNAL', 'score': 4.59}, {'connected_gene': 'GC18P012628', 'score': 0.25}]
chr18 GH18I011821 11821393 11822160 0.49 [{'connected_gene': 'ENSG00000267455', 'score': 0.39}, {'connected_gene': 'CHMP1B', 'score': 0.31}, {'connected_gene': 'GNAL', 'score': 0.12}]
chr18 GH18I011828 11828721 11830251 0.49 [{'connected_gene': 'ENSG00000267455', 'score': 0.37}, {'connected_gene': 'CHMP1B', 'score': 0.34}, {'connected_gene': 'GNAL', 'score': 0.11}]
chr18 GH18I011669 11669145 11670391 0.31 [{'connected_gene': 'ENSG00000260759', 'score': 550.77}, {'connected_gene': 'PIR59677', 'score': 550.77}, {'connected_gene': 'PIR39359', 'score': 550.77}, {'connected_gene': 'GC18M015240', 'score': 550.77}, {'connected_gene': 'PIR56741', 'score': 550.77}, {'connected_gene': 'PIR49196', 'score': 550.77}, {'connected_gene': 'PIR34471', 'score': 550.77}, {'connected_gene': 'GC18P012606', 'score': 550.77}, {'connected_gene': 'PIR34376', 'score': 550.77}, {'connected_gene': 'PIR41218', 'score': 550.77}, {'connected_gene': 'GC18M015184', 'score': 550.77}, {'connected_gene': 'GC18M015362', 'score': 550.77}, {'connected_gene': 'PIR41888', 'score': 550.77}, {'connected_gene': 'GC18P012607', 'score': 550.77}, {'connected_gene': 'PIR32320', 'score': 550.77}, {'connected_gene': 'GC18P012603', 'score': 550.77}, {'connected_gene': 'PIR46144', 'score': 550.77}, {'connected_gene': 'GC18P012620', 'score': 550.77}, {'connected_gene': 'PIR53102', 'score': 550.77}, {'connected_gene': 'GC18M015353', 'score': 550.77}, {'connected_gene': 'GC18P012627', 'score': 550.77}, {'connected_gene': 'PIR59332', 'score': 550.77}, {'connected_gene': 'PIR57457', 'score': 550.77}, {'connected_gene': 'GC18M015372', 'score': 550.77}, {'connected_gene': 'PIR55227', 'score': 550.77}, {'connected_gene': 'GC18M015259', 'score': 550.77}, {'connected_gene': 'GC18P012618', 'score': 550.77}, {'connected_gene': 'PIR38434', 'score': 550.77}, {'connected_gene': 'PIR49399', 'score': 550.77}, {'connected_gene': 'GC18M015176', 'score': 550.77}, {'connected_gene': 'GC18M015340', 'score': 550.77}, {'connected_gene': 'PIR57115', 'score': 550.77}, {'connected_gene': 'PIR50731', 'score': 550.77}, {'connected_gene': 'PIR43747', 'score': 550.77}, {'connected_gene': 'GC18M015175', 'score': 550.77}, {'connected_gene': 'GC18M015295', 'score': 550.77}, {'connected_gene': 'GC18P012615', 'score': 550.77}, {'connected_gene': 'PIR51010', 'score': 550.77}, {'connected_gene': 'PIR41697', 'score': 550.77}, {'connected_gene': 'GC18P012599', 'score': 550.77}, {'connected_gene': 'GC18P012623', 'score': 550.77}, {'connected_gene': 'GC18P012624', 'score': 550.77}, {'connected_gene': 'PIR36459', 'score': 550.77}, {'connected_gene': 'PIR62414', 'score': 550.77}, {'connected_gene': 'GC18M015170', 'score': 550.77}, {'connected_gene': 'PIR43220', 'score': 550.77}, {'connected_gene': 'GNAL', 'score': 7.9}, {'connected_gene': 'PIRC96', 'score': 0.28}]
chr18 GH18I011761 11761682 11761811 0.31 [{'connected_gene': 'GC18P012628', 'score': 550.77}, {'connected_gene': 'ENSG00000267455', 'score': 0.25}, {'connected_gene': 'GNAL', 'score': 0.19}]
chr18 GH18I011862 11862582 11862731 0.38 [{'connected_gene': 'PIR45381', 'score': 0.77}, {'connected_gene': 'ENSG00000272703', 'score': 0.44}, {'connected_gene': 'GNAL', 'score': 0.09}]

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