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
ENST00000377564 [[43684901, 43685379], [43709649, 43709760], [43737326, 43737520], [43800863, 43801011], [43815784, 43815988], [43816636, 43816821], [43818040, 43818184], [43822517, 43822779], [43828077, 43828221], [43844143, 43844315], [43849744, 43849851], [43853496, 43853616], [43861002, 43861206], [43875988, 43876145], [43884944, 43885072], [43890295, 43890466], [43891493, 43891712], [43894079, 43894319], [43905603, 43905828], [43907403, 43907537], [43908435, 43908523], [43915359, 43915590], [43915825, 43915897], [43920248, 43924049]] [[43685294, 43685379], [43709649, 43709760], [43737326, 43737520], [43800863, 43801011], [43815784, 43815988], [43816636, 43816821], [43818040, 43818184], [43822517, 43822779], [43828077, 43828221], [43844143, 43844315], [43849744, 43849851], [43853496, 43853616], [43861002, 43861206], [43875988, 43876145], [43884944, 43885072], [43890295, 43890466], [43891493, 43891712], [43894079, 43894319], [43905603, 43905828], [43907403, 43907537], [43908435, 43908523], [43915359, 43915590], [43915825, 43915897], [43920248, 43920370]]
ENST00000276974 [[43684909, 43685379], [43709649, 43709760], [43737326, 43737520], [43800863, 43801011], [43815784, 43815988], [43816636, 43816821], [43818040, 43818184], [43819609, 43821362]] [[43685294, 43685379], [43709649, 43709760], [43737326, 43737520], [43800863, 43801011], [43815784, 43815988], [43816636, 43816821], [43818040, 43818184], [43819609, 43819681]]
ENST00000341990 [[43685062, 43685379], [43709649, 43709760], [43737326, 43737520], [43800863, 43801011], [43815784, 43815988], [43816636, 43816821], [43818040, 43818184], [43822517, 43822779], [43828077, 43828221], [43844143, 43844315], [43849744, 43849851], [43853496, 43853616], [43861005, 43861206], [43875988, 43876326]] None
ENST00000479351 [[43685062, 43685379], [43709649, 43709760], [43737326, 43737520], [43800863, 43801011], [43815784, 43815988], [43816636, 43816821], [43818040, 43818184], [43822517, 43822779], [43828077, 43828221], [43853496, 43853616], [43861002, 43861206], [43884944, 43885072], [43890295, 43890529]] [[43685294, 43685379], [43709649, 43709760], [43737326, 43737520], [43800863, 43801011], [43815784, 43815988], [43816636, 43816821], [43818040, 43818184], [43822517, 43822779], [43828077, 43828221], [43853496, 43853616], [43861002, 43861206], [43884944, 43884961]]
ENST00000377561 [[43685148, 43685379], [43709649, 43709760], [43737326, 43737520], [43800863, 43801011], [43815784, 43815988], [43816636, 43816821], [43818040, 43818184], [43822517, 43822779], [43828077, 43828221], [43844143, 43844315], [43849744, 43849851], [43853496, 43853616], [43861002, 43861206], [43875988, 43876145], [43884944, 43885072], [43890295, 43890466], [43891493, 43891712], [43894079, 43894319], [43905603, 43905828], [43907403, 43909293]] None
ENST00000476961 [[43905777, 43905828], [43907403, 43907537], [43908435, 43908523], [43915825, 43915979], [43920248, 43920585]] None
ENST00000480466 [[43907406, 43907537], [43908111, 43908210], [43908435, 43908523], [43909283, 43909438]] None
ENST00000484254 [[43908050, 43908523], [43915359, 43915590], [43915825, 43915863]] None
ENST00000491438 [[43853496, 43853616], [43854068, 43854386]] None
ENST00000489789 [[43884944, 43885072], [43887610, 43887733], [43890295, 43890520]] None
ENST00000467854 [[43914414, 43915590], [43915825, 43915887]] None
NM_001201380 [[43684884, 43685379], [43709649, 43709760], [43737326, 43737520], [43800863, 43801011], [43815784, 43815988], [43816636, 43816821], [43818040, 43818184], [43822517, 43822779], [43828077, 43828221], [43844143, 43844315], [43849744, 43849851], [43853496, 43853616], [43861002, 43861206], [43875988, 43876145], [43884944, 43885072], [43890295, 43890466], [43891493, 43891712], [43894079, 43894319], [43905603, 43905828], [43907403, 43907537], [43908435, 43908523], [43915359, 43915590], [43915825, 43915897], [43920248, 43922476]] [[43685294, 43685379], [43709649, 43709760], [43737326, 43737520], [43800863, 43801011], [43815784, 43815988], [43816636, 43816821], [43818040, 43818184], [43822517, 43822779], [43828077, 43828221], [43844143, 43844315], [43849744, 43849851], [43853496, 43853616], [43861002, 43861206], [43875988, 43876145], [43884944, 43885072], [43890295, 43890466], [43891493, 43891712], [43894079, 43894319], [43905603, 43905828], [43907403, 43907537], [43908435, 43908523], [43915359, 43915590], [43915825, 43915897], [43920248, 43920370]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I042127 42127400 42130000 0.92 [{'connected_gene': 'CNTNAP3B', 'score': 550.77}, {'connected_gene': 'LOC100420440', 'score': 0.31}]
chr9 GH09I042852 42852000 42853001 0.92 [{'connected_gene': 'ANKRD20A7P', 'score': 595.81}, {'connected_gene': 'CNTNAP3B', 'score': 9.04}, {'connected_gene': 'LOC102724818', 'score': 0.37}]
chr9 GH09I042183 42183610 42183669 0.5 [{'connected_gene': 'SPATA31A6', 'score': 550.77}, {'connected_gene': 'CNTNAP3B', 'score': 0.23}]
chr9 GH09I042018 42018400 42018801 0.2 [{'connected_gene': 'RN7SL343P', 'score': 0.44}, {'connected_gene': 'LOC100420440', 'score': 0.18}, {'connected_gene': 'CNTNAP3B', 'score': 0.14}]
chr9 GH09I042070 42070401 42070800 0.2 [{'connected_gene': 'LOC100420440', 'score': 0.31}, {'connected_gene': 'CNTNAP3B', 'score': 0.22}, {'connected_gene': 'RN7SL343P', 'score': 0.22}]
chr9 GH09I041898 41898485 41899218 0.31 [{'connected_gene': 'VN2R6P', 'score': 0.23}, {'connected_gene': 'RBM17P3', 'score': 0.18}, {'connected_gene': 'CNTNAP3B', 'score': 0.07}]