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
ENST00000314797 [[128968448, 128968589], [128969524, 128969577], [128971123, 128971204], [128971465, 128971537], [128971718, 128971798], [128973510, 128973586], [128973827, 128973920], [128974910, 128974997], [128976312, 128976470], [128976569, 128976703], [128979175, 128979243], [128979461, 128979650], [128982746, 128982842], [128984391, 128984635], [128985866, 128985942], [128986779, 128986883], [128987337, 128987463], [128987774, 128987843], [128990609, 128990752], [128991086, 128991258], [128991649, 128991747], [128993680, 128993819], [128994036, 128994135], [128996136, 128996614]] [[128968552, 128968589], [128969524, 128969577], [128971123, 128971204], [128971465, 128971537], [128971718, 128971798], [128973510, 128973586], [128973827, 128973920], [128974910, 128974997], [128976312, 128976470], [128976569, 128976703], [128979175, 128979243], [128979461, 128979650], [128982746, 128982842], [128984391, 128984635], [128985866, 128985942], [128986779, 128986883], [128987337, 128987463], [128987774, 128987843], [128990609, 128990752], [128991086, 128991258], [128991649, 128991747], [128993680, 128993819], [128994036, 128994135], [128996136, 128996267]]
ENST00000515725 [[128968474, 128968589], [128969524, 128969577], [128971123, 128971204], [128971465, 128971798], [128973510, 128973586], [128973827, 128973920], [128974910, 128974997], [128976312, 128976470], [128976569, 128976703], [128979175, 128979243], [128979461, 128979650], [128982746, 128982842], [128984391, 128984635], [128985866, 128985942], [128986779, 128986883], [128987337, 128987463], [128987774, 128987843], [128990609, 128990752], [128991086, 128991258], [128991649, 128991747], [128993680, 128993819], [128994036, 128994135], [128996136, 128996614]] None
ENST00000513965 [[128968469, 128968589], [128969524, 128969577], [128971123, 128971204], [128971465, 128971941]] None
ENST00000504350 [[128968495, 128968589], [128969524, 128969737], [128971123, 128971204], [128971465, 128971537], [128971718, 128971798], [128973510, 128973586], [128973827, 128973883]] [[128968552, 128968589], [128969524, 128969637]]
ENST00000509208 [[128973169, 128973586], [128973827, 128973882]] None
ENST00000504547 [[128979069, 128979243], [128979461, 128979650], [128982746, 128982842], [128984391, 128984518]] None
ENST00000513410 [[128982753, 128982842], [128984391, 128984635], [128985866, 128986078]] None
ENST00000509889 [[128984594, 128984625], [128991190, 128991258], [128991649, 128991747], [128993680, 128993819], [128994036, 128994135], [128996136, 128996300]] [[128984594, 128984625], [128991190, 128991258], [128991649, 128991747], [128993680, 128993819], [128994036, 128994135], [128996136, 128996267]]
ENST00000514478 [[128991138, 128991258], [128991649, 128991747], [128992906, 128992979], [128993680, 128993819], [128994036, 128994135], [128996136, 128996341]] [[128991138, 128991258], [128991649, 128991747], [128992906, 128992918]]
ENST00000512034 [[128991695, 128991747], [128993680, 128994026]] None
NM_016128 [[128968452, 128968589], [128969524, 128969577], [128971123, 128971204], [128971465, 128971537], [128971718, 128971798], [128973510, 128973586], [128973827, 128973920], [128974910, 128974997], [128976312, 128976470], [128976569, 128976703], [128979175, 128979243], [128979461, 128979650], [128982746, 128982842], [128984391, 128984635], [128985866, 128985942], [128986779, 128986883], [128987337, 128987463], [128987774, 128987843], [128990609, 128990752], [128991086, 128991258], [128991649, 128991747], [128993680, 128993819], [128994036, 128994135], [128996136, 128996616]] [[128968552, 128968589], [128969524, 128969577], [128971123, 128971204], [128971465, 128971537], [128971718, 128971798], [128973510, 128973586], [128973827, 128973920], [128974910, 128974997], [128976312, 128976470], [128976569, 128976703], [128979175, 128979243], [128979461, 128979650], [128982746, 128982842], [128984391, 128984635], [128985866, 128985942], [128986779, 128986883], [128987337, 128987463], [128987774, 128987843], [128990609, 128990752], [128991086, 128991258], [128991649, 128991747], [128993680, 128993819], [128994036, 128994135], [128996136, 128996267]]
Promoter
Chrom Start End Description
chr3 128968437 128968505 CAGE_peak_1_at_COPG_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I129428 129428118 129429957 1.9 [{'connected_gene': 'EFCAB12', 'score': 557.34}, {'connected_gene': 'ENSG00000244932', 'score': 17.99}, {'connected_gene': 'RPL32P3', 'score': 14.82}, {'connected_gene': 'ISY1', 'score': 14.55}, {'connected_gene': 'H1FX', 'score': 13.5}, {'connected_gene': 'MBD4', 'score': 12.95}, {'connected_gene': 'COPG1', 'score': 12.16}, {'connected_gene': 'RPS15AP16', 'score': 11.46}, {'connected_gene': 'IFT122', 'score': 8.7}]
chr3 GH03I129251 129251729 129255465 0.56 [{'connected_gene': 'CNBP', 'score': 12.68}, {'connected_gene': 'ISY1', 'score': 12.55}, {'connected_gene': 'RAB43', 'score': 11.32}, {'connected_gene': 'KIAA1257', 'score': 11.1}, {'connected_gene': 'EFCC1', 'score': 11.09}, {'connected_gene': 'GP9', 'score': 10.46}, {'connected_gene': 'HMCES', 'score': 7.2}, {'connected_gene': 'ACAD9', 'score': 5.17}, {'connected_gene': 'COPG1', 'score': 0.77}, {'connected_gene': 'MIR6826', 'score': 0.37}]
chr3 GH03I129259 129259778 129259927 0.57 [{'connected_gene': 'CNBP', 'score': 11.26}, {'connected_gene': 'ISY1', 'score': 11.15}, {'connected_gene': 'COPG1', 'score': 0.39}, {'connected_gene': 'MIR6826', 'score': 0.39}]
chr3 GH03I129277 129277667 129280720 1.98 [{'connected_gene': 'HMCES', 'score': 579.85}, {'connected_gene': 'ISY1', 'score': 17.5}, {'connected_gene': 'MBD4', 'score': 16.66}, {'connected_gene': 'ENSG00000244932', 'score': 14.15}, {'connected_gene': 'RPL32P3', 'score': 12.77}, {'connected_gene': 'H1FX', 'score': 11.63}, {'connected_gene': 'RPS15AP16', 'score': 11.47}, {'connected_gene': 'CNBP', 'score': 10.63}, {'connected_gene': 'COPG1', 'score': 10.55}, {'connected_gene': 'RPN1', 'score': 9.75}, {'connected_gene': 'ACAD9', 'score': 6.89}, {'connected_gene': 'RAB7A', 'score': 4.09}, {'connected_gene': 'GC03M129283', 'score': 0.34}]
chr3 GH03I129256 129256618 129258851 0.57 [{'connected_gene': 'HMCES', 'score': 14.74}, {'connected_gene': 'ISY1', 'score': 12.29}, {'connected_gene': 'RAB43', 'score': 11.32}, {'connected_gene': 'CNBP', 'score': 11.27}, {'connected_gene': 'KIAA1257', 'score': 11.09}, {'connected_gene': 'EFCC1', 'score': 11.09}, {'connected_gene': 'GP9', 'score': 10.46}, {'connected_gene': 'H1FX-AS1', 'score': 5.63}, {'connected_gene': 'RPL32P3', 'score': 4.87}, {'connected_gene': 'COPG1', 'score': 0.44}, {'connected_gene': 'MIR6826', 'score': 0.39}]
chr3 GH03I129275 129275982 129277319 0.77 [{'connected_gene': 'HMCES', 'score': 29.85}, {'connected_gene': 'H1FX-AS1', 'score': 11.95}, {'connected_gene': 'H1FX', 'score': 11.95}, {'connected_gene': 'NUP210P3', 'score': 11.92}, {'connected_gene': 'CNBP', 'score': 11.26}, {'connected_gene': 'RAB43', 'score': 10.81}, {'connected_gene': 'ACAD9', 'score': 5.71}, {'connected_gene': 'RPL32P3', 'score': 5.58}, {'connected_gene': 'MIR6826', 'score': 0.77}, {'connected_gene': 'COPG1', 'score': 0.31}]
chr3 GH03I128877 128877729 128881374 2.11 [{'connected_gene': 'ACAD9', 'score': 573.47}, {'connected_gene': 'PIR50406', 'score': 550.77}, {'connected_gene': 'ENSG00000244932', 'score': 39.18}, {'connected_gene': 'RPL32P3', 'score': 38.41}, {'connected_gene': 'ISY1', 'score': 29.64}, {'connected_gene': 'H1FX', 'score': 20.52}, {'connected_gene': 'LOC653712', 'score': 17.08}, {'connected_gene': 'H1FX-AS1', 'score': 14.83}, {'connected_gene': 'MBD4', 'score': 14.02}, {'connected_gene': 'RPS15AP16', 'score': 11.61}, {'connected_gene': 'RUVBL1', 'score': 10.98}, {'connected_gene': 'EEFSEC', 'score': 10.83}, {'connected_gene': 'EFCC1', 'score': 10.7}, {'connected_gene': 'COPG1', 'score': 10.29}, {'connected_gene': 'RPN1', 'score': 9.8}, {'connected_gene': 'RAB7A', 'score': 7.74}]
chr3 GH03I129591 129591270 129610677 2.56 [{'connected_gene': 'PLXND1', 'score': 558.48}, {'connected_gene': 'RPL32P3', 'score': 16.46}, {'connected_gene': 'IFT122', 'score': 14.22}, {'connected_gene': 'LINC02021', 'score': 13.11}, {'connected_gene': 'ACAD9', 'score': 12.45}, {'connected_gene': 'H1FX-AS1', 'score': 10.97}, {'connected_gene': 'RHO', 'score': 10.41}, {'connected_gene': 'ENSG00000244932', 'score': 10.24}, {'connected_gene': 'ENSG00000203644', 'score': 4.49}, {'connected_gene': 'H1FOO', 'score': 1.57}, {'connected_gene': 'COPG1', 'score': 1.51}, {'connected_gene': 'RN7SL752P', 'score': 0.44}]
chr3 GH03I129248 129248298 129250875 2.18 [{'connected_gene': 'COPG1', 'score': 550.77}, {'connected_gene': 'PIR44075', 'score': 550.77}, {'connected_gene': 'HMCES', 'score': 15.1}, {'connected_gene': 'CNBP', 'score': 12.68}, {'connected_gene': 'ISY1', 'score': 12.56}, {'connected_gene': 'RAB43', 'score': 11.17}, {'connected_gene': 'GP9', 'score': 10.26}, {'connected_gene': 'H1FX-AS1', 'score': 5.13}, {'connected_gene': 'MBD4', 'score': 4.28}, {'connected_gene': 'MIR6826', 'score': 0.34}]
chr3 GH03I129178 129178341 129186747 2.27 [{'connected_gene': 'LOC105374101', 'score': 550.77}, {'connected_gene': 'CNBP', 'score': 550.77}, {'connected_gene': 'ENSG00000244932', 'score': 22.16}, {'connected_gene': 'RPL32P3', 'score': 21.62}, {'connected_gene': 'ISY1', 'score': 20.17}, {'connected_gene': 'MBD4', 'score': 14.06}, {'connected_gene': 'RPS15AP16', 'score': 11.48}, {'connected_gene': 'H1FX', 'score': 11.47}, {'connected_gene': 'H1FX-AS1', 'score': 10.91}, {'connected_gene': 'COPG1', 'score': 10.45}, {'connected_gene': 'RPN1', 'score': 9.75}, {'connected_gene': 'RAB7A', 'score': 5.61}, {'connected_gene': 'EFCC1', 'score': 4.16}, {'connected_gene': 'GC03M129158', 'score': 0.39}]
chr3 GH03I130001 130001924 130003985 0.72 [{'connected_gene': 'PIR61902', 'score': 550.77}, {'connected_gene': 'ENSG00000284731', 'score': 550.77}, {'connected_gene': 'COL6A4P2', 'score': 12.86}, {'connected_gene': 'COPG1', 'score': 5.03}, {'connected_gene': 'RPS17P9', 'score': 0.37}]
chr3 GH03I129907 129907921 129909147 0.79 [{'connected_gene': 'ENSG00000244932', 'score': 17.77}, {'connected_gene': 'RPL32P3', 'score': 14.54}, {'connected_gene': 'ISY1', 'score': 14.52}, {'connected_gene': 'PIK3R4', 'score': 14.26}, {'connected_gene': 'H1FX', 'score': 13.39}, {'connected_gene': 'MBD4', 'score': 12.6}, {'connected_gene': 'COPG1', 'score': 12.09}, {'connected_gene': 'ENSG00000203644', 'score': 4.22}, {'connected_gene': 'TMCC1-AS1', 'score': 0.39}, {'connected_gene': 'ENSG00000250643', 'score': 0.21}, {'connected_gene': 'GC03P129794', 'score': 0.06}]