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
ENST00000310301 [[38762562, 38765926], [38766508, 38766588], [38768141, 38768186], [38768291, 38768391], [38781584, 38781721], [38783001, 38783142], [38785158, 38785213], [38791775, 38791913], [38794301, 38794352], [38794494, 38794536], [38796437, 38796582], [38797953, 38798081], [38803054, 38803147], [38805179, 38805261], [38807136, 38807198], [38810797, 38810854], [38812121, 38812237], [38813714, 38813844], [38816278, 38816376], [38829400, 38829467], [38835064, 38835211], [38836344, 38836464], [38857416, 38857482], [38860802, 38860865], [38869853, 38869928], [38902144, 38902222], [38908745, 38908853], [38937690, 38937729], [38948753, 38948829]] [[38765845, 38765926], [38766508, 38766588], [38768141, 38768186], [38768291, 38768391], [38781584, 38781721], [38783001, 38783142], [38785158, 38785213], [38791775, 38791913], [38794301, 38794352], [38794494, 38794536], [38796437, 38796582], [38797953, 38798081], [38803054, 38803147], [38805179, 38805261], [38807136, 38807198], [38810797, 38810854], [38812121, 38812237], [38813714, 38813844], [38816278, 38816376], [38829400, 38829467], [38835064, 38835211], [38836344, 38836464], [38857416, 38857482], [38860802, 38860865], [38869853, 38869928], [38902144, 38902222], [38908745, 38908853], [38937690, 38937729], [38948753, 38948774]]
ENST00000395969 [[38765154, 38765926], [38766508, 38766588], [38768141, 38768186], [38768291, 38768391], [38781584, 38781721], [38783001, 38783142], [38785158, 38785213], [38791775, 38791913], [38794301, 38794352], [38794494, 38794536], [38796437, 38796582], [38797953, 38798081], [38803054, 38803147], [38805179, 38805261], [38807136, 38807198], [38810797, 38810854], [38812121, 38812237], [38813714, 38813844], [38816278, 38816376], [38829400, 38829467], [38835064, 38835211], [38836344, 38836464], [38857416, 38857482], [38860802, 38860865], [38902144, 38902222], [38908745, 38908853], [38937690, 38937729], [38948753, 38948774]] [[38765845, 38765926], [38766508, 38766588], [38768141, 38768186], [38768291, 38768391], [38781584, 38781721], [38783001, 38783142], [38785158, 38785213], [38791775, 38791913], [38794301, 38794352], [38794494, 38794536], [38796437, 38796582], [38797953, 38798081], [38803054, 38803147], [38805179, 38805261], [38807136, 38807198], [38810797, 38810854], [38812121, 38812237], [38813714, 38813844], [38816278, 38816376], [38829400, 38829467], [38835064, 38835211], [38836344, 38836464], [38857416, 38857482], [38860802, 38860865], [38902144, 38902222], [38908745, 38908853], [38937690, 38937729], [38948753, 38948774]]
ENST00000265745 [[38835141, 38835211], [38836014, 38836126], [38836344, 38836464], [38857416, 38857482], [38860802, 38860865], [38869853, 38869928], [38902144, 38902222], [38908745, 38908853], [38937690, 38937729], [38948753, 38948791]] [[38836066, 38836126], [38836344, 38836464], [38857416, 38857482], [38860802, 38860865], [38869853, 38869928], [38902144, 38902222], [38908745, 38908853], [38937690, 38937729], [38948753, 38948774]]
ENST00000414632 [[38836344, 38836464], [38857416, 38857482], [38860802, 38860865], [38869853, 38869928], [38902144, 38902222], [38908745, 38908853], [38948753, 38948791]] [[38836344, 38836464], [38857416, 38857482], [38860802, 38860865], [38869853, 38869928], [38902144, 38902222], [38908745, 38908853], [38948753, 38948774]]
ENST00000418457 [[38857402, 38857482], [38860802, 38860865], [38869853, 38869928], [38902144, 38902222], [38908745, 38908853], [38937690, 38937729], [38969071, 38969160]] [[38857402, 38857482], [38860802, 38860865], [38869853, 38869928], [38902144, 38902222], [38908745, 38908763]]
ENST00000457055 [[38860817, 38860865], [38869853, 38869928], [38902144, 38902222], [38908745, 38908853], [38937690, 38937729], [38971877, 38971994]] [[38860817, 38860865], [38869853, 38869928], [38902144, 38902222], [38908745, 38908763]]
ENST00000490924 [[38765708, 38765926], [38766508, 38766786]] None
ENST00000448833 [[38765835, 38765926], [38766508, 38766588], [38767940, 38768034], [38768141, 38768186], [38768291, 38768391], [38781584, 38781721], [38783001, 38783142], [38785158, 38785181]] [[38768029, 38768034], [38768141, 38768186], [38768291, 38768391], [38781584, 38781721], [38783001, 38783142], [38785158, 38785181]]
ENST00000482217 [[38765918, 38765926], [38766508, 38766588], [38768141, 38768186], [38768291, 38768391], [38781584, 38781721], [38783001, 38783142], [38785158, 38785598]] None
ENST00000439468 [[38780883, 38780951], [38781580, 38781721], [38783001, 38783142], [38785158, 38785162]] [[38780907, 38780951], [38781580, 38781721], [38783001, 38783142], [38785158, 38785162]]
ENST00000462429 [[38798001, 38798081], [38803054, 38803147], [38805179, 38805353]] None
ENST00000466017 [[38812198, 38812237], [38813714, 38813844], [38816278, 38816376], [38829400, 38829467], [38835064, 38835211], [38836531, 38836641]] None
ENST00000485955 [[38813757, 38813844], [38814788, 38815272]] None
ENST00000413141 [[38835091, 38835211], [38836344, 38836464], [38857416, 38857482], [38860802, 38860865], [38869853, 38869928], [38870815, 38870946]] [[38835091, 38835211], [38836344, 38836464], [38857416, 38857482], [38860802, 38860865], [38869853, 38869928], [38870815, 38870839]]
NM_014396 [[38763542, 38765926], [38766508, 38766588], [38768141, 38768186], [38768291, 38768391], [38781584, 38781721], [38783001, 38783142], [38785158, 38785213], [38791775, 38791913], [38794301, 38794352], [38794494, 38794536], [38796437, 38796582], [38797953, 38798081], [38803054, 38803147], [38805179, 38805261], [38807136, 38807198], [38810797, 38810854], [38812121, 38812237], [38813714, 38813844], [38816278, 38816376], [38829400, 38829467], [38835064, 38835211], [38836344, 38836464], [38857416, 38857482], [38860802, 38860865], [38869853, 38869928], [38902144, 38902222], [38908745, 38908853], [38937690, 38937729], [38948753, 38948800]] [[38765845, 38765926], [38766508, 38766588], [38768141, 38768186], [38768291, 38768391], [38781584, 38781721], [38783001, 38783142], [38785158, 38785213], [38791775, 38791913], [38794301, 38794352], [38794494, 38794536], [38796437, 38796582], [38797953, 38798081], [38803054, 38803147], [38805179, 38805261], [38807136, 38807198], [38810797, 38810854], [38812121, 38812237], [38813714, 38813844], [38816278, 38816376], [38829400, 38829467], [38835064, 38835211], [38836344, 38836464], [38857416, 38857482], [38860802, 38860865], [38869853, 38869928], [38902144, 38902222], [38908745, 38908853], [38937690, 38937729], [38948753, 38948774]]
NM_080631 [[38763542, 38765926], [38766508, 38766588], [38768141, 38768186], [38768291, 38768391], [38781584, 38781721], [38783001, 38783142], [38785158, 38785213], [38791775, 38791913], [38794301, 38794352], [38794494, 38794536], [38796437, 38796582], [38797953, 38798081], [38803054, 38803147], [38805179, 38805261], [38807136, 38807198], [38810797, 38810854], [38812121, 38812237], [38813714, 38813844], [38816278, 38816376], [38829400, 38829467], [38835064, 38835211], [38836344, 38836464], [38857416, 38857482], [38860802, 38860865], [38902144, 38902222], [38908745, 38908853], [38937690, 38937729], [38948753, 38948800]] [[38765845, 38765926], [38766508, 38766588], [38768141, 38768186], [38768291, 38768391], [38781584, 38781721], [38783001, 38783142], [38785158, 38785213], [38791775, 38791913], [38794301, 38794352], [38794494, 38794536], [38796437, 38796582], [38797953, 38798081], [38803054, 38803147], [38805179, 38805261], [38807136, 38807198], [38810797, 38810854], [38812121, 38812237], [38813714, 38813844], [38816278, 38816376], [38829400, 38829467], [38835064, 38835211], [38836344, 38836464], [38857416, 38857482], [38860802, 38860865], [38902144, 38902222], [38908745, 38908853], [38937690, 38937729], [38948753, 38948774]]
Promoter
Chrom Start End Description
chr7 38948780 38948805 CAGE_peak_1_at_VPS41_5end
chr7 38969150 38969169 CAGE_peak_2_at_VPS41_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I039465 39465082 39465251 0.78 [{'connected_gene': 'VPS41', 'score': 9.92}, {'connected_gene': 'YAE1D1', 'score': 9.89}, {'connected_gene': 'LOC105375240', 'score': 9.89}, {'connected_gene': 'FAM183BP', 'score': 4.4}, {'connected_gene': 'LOC105375238', 'score': 0.44}, {'connected_gene': 'POU6F2-AS1', 'score': 0.22}, {'connected_gene': 'POU6F2', 'score': 0.04}]
chr7 GH07I038797 38797021 38797170 0.56 [{'connected_gene': 'VPS41', 'score': 10.25}, {'connected_gene': 'YAE1D1', 'score': 10.04}, {'connected_gene': 'LOC105375240', 'score': 10.04}, {'connected_gene': 'FAM183BP', 'score': 9.47}, {'connected_gene': 'GC07M038790', 'score': 0.77}, {'connected_gene': 'GC07P038849', 'score': 0.23}, {'connected_gene': 'GC07P038746', 'score': 0.23}]
chr7 GH07I038846 38846341 38846530 0.74 [{'connected_gene': 'VPS41', 'score': 12.96}, {'connected_gene': 'YAE1D1', 'score': 9.45}, {'connected_gene': 'LOC105375240', 'score': 9.45}, {'connected_gene': 'GC07P038849', 'score': 0.77}, {'connected_gene': 'GC07M038790', 'score': 0.23}, {'connected_gene': 'GC07P038746', 'score': 0.15}]
chr7 GH07I038840 38840635 38842034 0.63 [{'connected_gene': 'VPS41', 'score': 9.86}, {'connected_gene': 'YAE1D1', 'score': 9.45}, {'connected_gene': 'LOC105375240', 'score': 9.45}, {'connected_gene': 'GC07P038849', 'score': 0.44}, {'connected_gene': 'GC07M038790', 'score': 0.25}, {'connected_gene': 'GC07P038746', 'score': 0.16}]
chr7 GH07I038673 38673556 38674372 0.58 [{'connected_gene': 'VPS41', 'score': 4.25}, {'connected_gene': 'FAM183BP', 'score': 0.39}, {'connected_gene': 'KRT8P20', 'score': 0.37}]
chr7 GH07I038932 38932681 38932830 0.67 [{'connected_gene': 'VPS41', 'score': 550.77}, {'connected_gene': 'POU6F2', 'score': 0.25}, {'connected_gene': 'GC07P038746', 'score': 0.09}]
chr7 GH07I038908 38908168 38909810 2.01 [{'connected_gene': 'VPS41', 'score': 560.54}, {'connected_gene': 'CICP22', 'score': 11.96}, {'connected_gene': 'LOC100101126', 'score': 10.85}, {'connected_gene': 'ENSG00000228554', 'score': 9.85}, {'connected_gene': 'GC07P038849', 'score': 0.22}, {'connected_gene': 'GC07P038746', 'score': 0.1}]
chr7 GH07I038929 38929601 38930001 0.63 [{'connected_gene': 'VPS41', 'score': 0.77}, {'connected_gene': 'GC07P038849', 'score': 0.18}, {'connected_gene': 'GC07P038746', 'score': 0.09}]
chr7 GH07I038855 38855401 38855800 0.49 [{'connected_gene': 'VPS41', 'score': 10.94}, {'connected_gene': 'GC07P038849', 'score': 0.44}, {'connected_gene': 'GC07P038746', 'score': 0.14}]
chr7 GH07I038927 38927801 38928200 0.31 [{'connected_gene': 'VPS41', 'score': 0.77}, {'connected_gene': 'GC07P038849', 'score': 0.18}, {'connected_gene': 'GC07P038746', 'score': 0.09}]
chr7 GH07I038907 38907202 38907600 0.31 [{'connected_gene': 'VPS41', 'score': 4.7}, {'connected_gene': 'GC07P038849', 'score': 0.22}, {'connected_gene': 'GC07P038746', 'score': 0.1}]
chr7 GH07I038856 38856000 38856201 0.57 [{'connected_gene': 'VPS41', 'score': 6.02}, {'connected_gene': 'GC07P038849', 'score': 0.44}, {'connected_gene': 'GC07P038746', 'score': 0.14}]
chr7 GH07I038798 38798023 38799590 0.38 [{'connected_gene': 'VPS41', 'score': 6.35}, {'connected_gene': 'GC07M038790', 'score': 0.77}, {'connected_gene': 'GC07P038849', 'score': 0.23}, {'connected_gene': 'GC07P038746', 'score': 0.23}]
chr7 GH07I038940 38940485 38940504 0.22 [{'connected_gene': 'POU6F2', 'score': 11.19}, {'connected_gene': 'VPS41', 'score': 0.44}, {'connected_gene': 'GC07P038746', 'score': 0.08}]
chr7 GH07I038977 38977865 38977924 0.79 [{'connected_gene': 'POU6F2', 'score': 550.77}, {'connected_gene': 'VPS41', 'score': 0.25}]
chr7 GH07I038976 38976201 38976350 0.38 [{'connected_gene': 'POU6F2', 'score': 550.77}, {'connected_gene': 'VPS41', 'score': 0.26}]
chr7 GH07I038878 38878801 38878950 0.31 [{'connected_gene': 'GC07P038849', 'score': 0.31}, {'connected_gene': 'VPS41', 'score': 0.23}, {'connected_gene': 'GC07P038746', 'score': 0.12}]
chr7 GH07I038782 38782041 38782250 0.2 [{'connected_gene': 'GC07M038790', 'score': 0.39}, {'connected_gene': 'GC07P038746', 'score': 0.28}, {'connected_gene': 'VPS41', 'score': 0.1}]
chr7 GH07I038863 38863241 38864588 1.1 [{'connected_gene': 'GC07P038849', 'score': 0.39}, {'connected_gene': 'VPS41', 'score': 0.2}, {'connected_gene': 'GC07P038746', 'score': 0.13}]
chr7 GH07I038858 38858124 38859104 0.43 [{'connected_gene': 'GC07P038849', 'score': 0.44}, {'connected_gene': 'VPS41', 'score': 0.19}, {'connected_gene': 'GC07P038746', 'score': 0.14}]