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
ENST00000471927 [[73460547, 73460641], [73462677, 73462773], [73466770, 73466924], [73467564, 73467671], [73470131, 73470236]] None
ENST00000469844 [[73460556, 73460641], [73466770, 73466924], [73467564, 73467671], [73470131, 73470257], [73471124, 73471177], [73471671, 73471758]] None
ENST00000473197 [[73460572, 73460641], [73466199, 73466459], [73466770, 73466924], [73467564, 73467676]] None
ENST00000492253 [[73460586, 73460641], [73464679, 73464815], [73466770, 73466924], [73467564, 73467671], [73470131, 73470210]] None
ENST00000540468 [[73461363, 73461512], [73470131, 73470257], [73471124, 73471177], [73471671, 73471843], [73474889, 73475054], [73476118, 73476307], [73476946, 73477044], [73477433, 73477566], [73478353, 73478560], [73479767, 73480149]] [[73461506, 73461512], [73470131, 73470257], [73471124, 73471177], [73471671, 73471843], [73474889, 73475054], [73476118, 73476307], [73476946, 73477044], [73477433, 73477566], [73478353, 73478560], [73479767, 73479989]]
ENST00000539919 [[73461363, 73461512], [73462677, 73462773], [73466770, 73466924], [73467564, 73467671], [73470131, 73470257], [73471124, 73471177], [73471671, 73471843], [73474889, 73475054], [73476118, 73476307], [73476946, 73477044], [73477433, 73477566], [73478353, 73478560], [73479767, 73480149]] [[73466896, 73466924], [73467564, 73467671], [73470131, 73470257], [73471124, 73471177], [73471671, 73471843], [73474889, 73475054], [73476118, 73476307], [73476946, 73477044], [73477433, 73477566], [73478353, 73478560], [73479767, 73479989]]
ENST00000258091 [[73461365, 73461512], [73466770, 73466924], [73467564, 73467671], [73470131, 73470257], [73471124, 73471177], [73471671, 73471843], [73474889, 73475054], [73476118, 73476307], [73476946, 73477044], [73477433, 73477566], [73478353, 73478560], [73479767, 73480132]] [[73461506, 73461512], [73466770, 73466924], [73467564, 73467671], [73470131, 73470257], [73471124, 73471177], [73471671, 73471843], [73474889, 73475054], [73476118, 73476307], [73476946, 73477044], [73477433, 73477566], [73478353, 73478560], [73479767, 73479989]]
ENST00000461290 [[73461396, 73461512], [73466770, 73466924], [73467564, 73467671], [73470131, 73470257], [73471124, 73471639]] None
ENST00000464397 [[73461434, 73461512], [73466770, 73467275]] None
ENST00000399032 [[73461435, 73461512], [73462677, 73462773], [73466770, 73466924], [73467564, 73467671], [73470131, 73470257], [73471124, 73471157]] [[73466896, 73466924], [73467564, 73467671], [73470131, 73470257], [73471124, 73471157]]
ENST00000398422 [[73461435, 73461512], [73474889, 73475054], [73476118, 73476307], [73476946, 73477044], [73477433, 73477566], [73478353, 73478560], [73479767, 73480132]] [[73461506, 73461512], [73474889, 73475054], [73476118, 73476307], [73476946, 73477044], [73477433, 73477566], [73478353, 73478560], [73479767, 73479989]]
ENST00000480489 [[73461436, 73461512], [73466770, 73466924], [73467564, 73467671], [73470131, 73470321]] None
ENST00000409924 [[73461436, 73461512], [73466770, 73466924], [73470173, 73470257], [73471124, 73471177], [73471671, 73471843], [73474889, 73474917]] [[73461506, 73461512], [73466770, 73466924], [73470173, 73470257], [73471124, 73471132]]
ENST00000537131 [[73461436, 73461512], [73466770, 73466924], [73470173, 73470257], [73471124, 73471177], [73471671, 73471843], [73474889, 73475054], [73476118, 73476307], [73476946, 73477044], [73477433, 73477566], [73478353, 73478560], [73479767, 73480132]] [[73466915, 73466924], [73470173, 73470257], [73471124, 73471177], [73471671, 73471843], [73474889, 73475054], [73476118, 73476307], [73476946, 73477044], [73477433, 73477566], [73478353, 73478560], [73479767, 73479989]]
ENST00000538797 [[73461445, 73461512], [73466770, 73466924], [73467564, 73467671], [73470131, 73470257], [73471671, 73471843], [73474889, 73475054], [73476118, 73476307], [73476946, 73477044], [73477433, 73477566], [73478353, 73478560], [73479767, 73480134]] [[73470195, 73470257], [73471671, 73471843], [73474889, 73475054], [73476118, 73476307], [73476946, 73477044], [73477433, 73477566], [73478353, 73478560], [73479767, 73479989]]
ENST00000473786 [[73461463, 73461512], [73470100, 73470257], [73471124, 73471177], [73471671, 73471843], [73474889, 73475054], [73476118, 73476307], [73476946, 73476972]] None
ENST00000482064 [[73466228, 73466407], [73466770, 73466924], [73467564, 73467671], [73470131, 73470258]] None
ENST00000488856 [[73470973, 73471177], [73471671, 73471843], [73474889, 73475054], [73476118, 73476189]] None
NM_001009570 [[73461363, 73461512], [73474889, 73475054], [73476118, 73476307], [73476946, 73477044], [73477433, 73477566], [73478353, 73478560], [73479767, 73480150]] [[73461506, 73461512], [73474889, 73475054], [73476118, 73476307], [73476946, 73477044], [73477433, 73477566], [73478353, 73478560], [73479767, 73479989]]
NM_001166284 [[73461363, 73461512], [73470131, 73470257], [73471124, 73471177], [73471671, 73471843], [73474889, 73475054], [73476118, 73476307], [73476946, 73477044], [73477433, 73477566], [73478353, 73478560], [73479767, 73480150]] [[73461506, 73461512], [73470131, 73470257], [73471124, 73471177], [73471671, 73471843], [73474889, 73475054], [73476118, 73476307], [73476946, 73477044], [73477433, 73477566], [73478353, 73478560], [73479767, 73479989]]
NR_029403 [[73461363, 73461512], [73466770, 73466924], [73470173, 73470257], [73471124, 73471177], [73471671, 73471843], [73474889, 73475054], [73476118, 73476307], [73476946, 73477044], [73477433, 73477566], [73478353, 73478560], [73479767, 73480150]] None
NR_029402 [[73461363, 73461512], [73466770, 73466924], [73467564, 73467671], [73470131, 73470257], [73471671, 73471843], [73474889, 73475054], [73476118, 73476307], [73476946, 73477044], [73477433, 73477566], [73478353, 73478560], [73479767, 73480150]] None
NM_006429 [[73461363, 73461512], [73466770, 73466924], [73467564, 73467671], [73470131, 73470257], [73471124, 73471177], [73471671, 73471843], [73474889, 73475054], [73476118, 73476307], [73476946, 73477044], [73477433, 73477566], [73478353, 73478560], [73479767, 73480150]] [[73461506, 73461512], [73466770, 73466924], [73467564, 73467671], [73470131, 73470257], [73471124, 73471177], [73471671, 73471843], [73474889, 73475054], [73476118, 73476307], [73476946, 73477044], [73477433, 73477566], [73478353, 73478560], [73479767, 73479989]]
NM_001166285 [[73461363, 73461512], [73462677, 73462773], [73466770, 73466924], [73467564, 73467671], [73470131, 73470257], [73471124, 73471177], [73471671, 73471843], [73474889, 73475054], [73476118, 73476307], [73476946, 73477044], [73477433, 73477566], [73478353, 73478560], [73479767, 73480150]] [[73466896, 73466924], [73467564, 73467671], [73470131, 73470257], [73471124, 73471177], [73471671, 73471843], [73474889, 73475054], [73476118, 73476307], [73476946, 73477044], [73477433, 73477566], [73478353, 73478560], [73479767, 73479989]]
Promoter
Chrom Start End Description
chr2 73460544 73460558 CAGE_peak_13_at_CCT7_5end
chr2 73460563 73460572 CAGE_peak_14_at_CCT7_5end
chr2 73460574 73460592 CAGE_peak_9_at_CCT7_5end
chr2 73461388 73461399 CAGE_peak_2_at_CCT7_5end
chr2 73461410 73461463 CAGE_peak_1_at_CCT7_5end
chr2 73466862 73466877 CAGE_peak_3_at_CCT7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I073069 73069186 73072691 2.09 [{'connected_gene': 'SFXN5', 'score': 550.77}, {'connected_gene': 'DUSP11', 'score': 27.93}, {'connected_gene': 'CCT7', 'score': 25.63}, {'connected_gene': 'ENSG00000273245', 'score': 21.16}, {'connected_gene': 'ALMS1', 'score': 19.21}, {'connected_gene': 'TPRKB', 'score': 12.37}, {'connected_gene': 'SMYD5', 'score': 11.55}, {'connected_gene': 'DGUOK-AS1', 'score': 10.15}, {'connected_gene': 'RAB11FIP5', 'score': 6.3}, {'connected_gene': 'PIR43769', 'score': 0.77}, {'connected_gene': 'GC02M073119', 'score': 0.77}, {'connected_gene': 'LOC105374800', 'score': 0.37}]
chr2 GH02I073736 73736102 73738330 2.08 [{'connected_gene': 'TPRKB', 'score': 561.34}, {'connected_gene': 'PCGF1', 'score': 18.61}, {'connected_gene': 'DUSP11', 'score': 12.52}, {'connected_gene': 'CCT7', 'score': 12.12}, {'connected_gene': 'ENSG00000273245', 'score': 12.07}, {'connected_gene': 'ALMS1', 'score': 10.98}, {'connected_gene': 'TTC31', 'score': 10.36}, {'connected_gene': 'NAT8B', 'score': 0.28}]
chr2 GH02I073782 73782966 73784196 1.07 [{'connected_gene': 'C2orf78', 'score': 550.77}, {'connected_gene': 'TPRKB', 'score': 10.93}, {'connected_gene': 'CCT7', 'score': 4.54}, {'connected_gene': 'DUSP11', 'score': 0.77}]
chr2 GH02I073030 73030928 73035400 1.15 [{'connected_gene': 'RAB11FIP5', 'score': 9.37}, {'connected_gene': 'CCT7', 'score': 5.2}, {'connected_gene': 'SFXN5', 'score': 4.75}, {'connected_gene': 'LOC105374800', 'score': 0.34}, {'connected_gene': 'GC02P072995', 'score': 0.28}]
chr2 GH02I073232 73232406 73236260 2.12 [{'connected_gene': 'CCT7', 'score': 579.47}, {'connected_gene': 'PRADC1', 'score': 561.49}, {'connected_gene': 'DUSP11', 'score': 64.74}, {'connected_gene': 'ENSG00000273245', 'score': 63.52}, {'connected_gene': 'MOB1A', 'score': 30.39}, {'connected_gene': 'FBXO41', 'score': 12.52}, {'connected_gene': 'TPRKB', 'score': 12.37}, {'connected_gene': 'ALMS1', 'score': 11.03}, {'connected_gene': 'DGUOK-AS1', 'score': 10.15}, {'connected_gene': 'PIR47890', 'score': 0.44}]
chr2 GH02I073212 73212513 73213203 0.82 [{'connected_gene': 'SMYD5', 'score': 550.77}, {'connected_gene': 'PRADC1', 'score': 20.15}, {'connected_gene': 'CCT7', 'score': 17.49}, {'connected_gene': 'RAB11FIP5', 'score': 10.7}, {'connected_gene': 'SFXN5', 'score': 10.16}, {'connected_gene': 'SPR', 'score': 10.0}, {'connected_gene': 'NOTO', 'score': 0.39}]
chr2 GH02I073213 73213336 73215768 2.06 [{'connected_gene': 'SMYD5', 'score': 560.54}, {'connected_gene': 'PRADC1', 'score': 12.55}, {'connected_gene': 'CCT7', 'score': 5.3}]
chr2 GH02I073175 73175043 73178265 1.56 [{'connected_gene': 'SMYD5', 'score': 21.01}, {'connected_gene': 'ALMS1', 'score': 14.1}, {'connected_gene': 'DUSP11', 'score': 13.27}, {'connected_gene': 'SFXN5', 'score': 12.86}, {'connected_gene': 'PRADC1', 'score': 11.86}, {'connected_gene': 'NOTO', 'score': 11.63}, {'connected_gene': 'SPR', 'score': 11.18}, {'connected_gene': 'ENSG00000273245', 'score': 11.14}, {'connected_gene': 'EMX1', 'score': 10.46}, {'connected_gene': 'CCT7', 'score': 5.09}, {'connected_gene': 'EGR4', 'score': 1.45}, {'connected_gene': 'GC02P073186', 'score': 0.44}, {'connected_gene': 'RAB11FIP5', 'score': 0.37}]
chr2 GH02I073191 73191133 73192599 0.79 [{'connected_gene': 'SMYD5', 'score': 21.9}, {'connected_gene': 'RAB11FIP5', 'score': 11.24}, {'connected_gene': 'PRADC1', 'score': 11.02}, {'connected_gene': 'SFXN5', 'score': 10.97}, {'connected_gene': 'SPR', 'score': 9.87}, {'connected_gene': 'EMX1', 'score': 9.82}, {'connected_gene': 'CCT7', 'score': 4.99}, {'connected_gene': 'GC02P073186', 'score': 0.44}, {'connected_gene': 'NOTO', 'score': 0.39}]
chr2 GH02I073244 73244144 73244728 0.65 [{'connected_gene': 'SMYD5', 'score': 12.04}, {'connected_gene': 'FBXO41', 'score': 11.57}, {'connected_gene': 'PRADC1', 'score': 8.0}, {'connected_gene': 'PIR47890', 'score': 0.77}, {'connected_gene': 'CCT7', 'score': 0.39}]
chr2 GH02I074196 74196814 74200680 2.11 [{'connected_gene': 'ENSG00000279070', 'score': 550.77}, {'connected_gene': 'MTHFD2', 'score': 550.77}, {'connected_gene': 'PCGF1', 'score': 40.46}, {'connected_gene': 'DUSP11', 'score': 38.6}, {'connected_gene': 'INO80B', 'score': 38.56}, {'connected_gene': 'ENSG00000273245', 'score': 37.39}, {'connected_gene': 'WBP1', 'score': 28.29}, {'connected_gene': 'AUP1', 'score': 23.63}, {'connected_gene': 'TTC31', 'score': 22.87}, {'connected_gene': 'MOB1A', 'score': 22.46}, {'connected_gene': 'HTRA2', 'score': 22.1}, {'connected_gene': 'SEMA4F', 'score': 22.05}, {'connected_gene': 'ALMS1', 'score': 21.77}, {'connected_gene': 'CCT7', 'score': 20.88}, {'connected_gene': 'BOLA3-AS1', 'score': 20.64}, {'connected_gene': 'WDR54', 'score': 19.46}, {'connected_gene': 'ALMS1P1', 'score': 18.66}, {'connected_gene': 'DGUOK-AS1', 'score': 18.29}, {'connected_gene': 'SLC4A5', 'score': 17.54}, {'connected_gene': 'MOGS', 'score': 14.27}, {'connected_gene': 'CCDC142', 'score': 14.06}, {'connected_gene': 'SMYD5', 'score': 14.03}, {'connected_gene': 'ENSG00000159239', 'score': 12.06}, {'connected_gene': 'DCTN1', 'score': 11.85}, {'connected_gene': 'BOLA3', 'score': 10.84}, {'connected_gene': 'ENSG00000270571', 'score': 10.82}, {'connected_gene': 'TPRKB', 'score': 10.77}, {'connected_gene': 'LOC107985899', 'score': 10.09}, {'connected_gene': 'GC02P074217', 'score': 0.37}]
chr2 GH02I073239 73239622 73239681 0.5 [{'connected_gene': 'PIR47890', 'score': 550.77}, {'connected_gene': 'CCT7', 'score': 550.44}, {'connected_gene': 'NOTO', 'score': 11.08}]