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
ENST00000244174 [[155227245, 155227452], [155232570, 155232684], [155233113, 155233225], [155233341, 155233520], [155234084, 155234230], [155234942, 155235144], [155235747, 155235853], [155237187, 155237272], [155239480, 155240273]] [[155227424, 155227452], [155232570, 155232684], [155233113, 155233225], [155233341, 155233520], [155234084, 155234230], [155234942, 155235144], [155235747, 155235853], [155237187, 155237272], [155239480, 155240074]]
ENST00000424344 [[155227245, 155227452], [155231072, 155231173], [155232546, 155232684], [155233113, 155233225], [155233341, 155233520], [155234084, 155234230], [155234942, 155235144], [155235747, 155235853], [155237187, 155237272], [155239480, 155240482]] [[155232605, 155232684], [155233113, 155233225], [155233341, 155233520], [155234084, 155234230], [155234942, 155235144], [155235747, 155235853], [155237187, 155237272], [155239480, 155240074]]
ENST00000369423 [[155227370, 155227452], [155231072, 155231173], [155232546, 155232684], [155233113, 155233225], [155233348, 155233520], [155234113, 155234230], [155234942, 155235144], [155235747, 155235853], [155239480, 155240482]] [[155227408, 155227452], [155231072, 155231173], [155232546, 155232684], [155233113, 155233225], [155233348, 155233520], [155234113, 155234230], [155234942, 155235144], [155235747, 155235853], [155239480, 155239517]]
ENST00000540897 [[155227370, 155227452], [155231072, 155231173], [155232546, 155232684], [155233113, 155233225], [155233348, 155233520], [155234113, 155234230], [155234942, 155235144], [155235747, 155235853], [155239480, 155240482]] [[155227438, 155227452], [155231072, 155231173], [155232546, 155232684], [155233113, 155233225], [155233348, 155233520], [155234113, 155234230], [155234942, 155235144], [155235747, 155235853], [155239480, 155239517]]
ENST00000489233 [[155227398, 155227452], [155230994, 155231173], [155232570, 155232635]] None
ENST00000494962 [[155235778, 155235853], [155237187, 155237272], [155237563, 155237711]] None
ENST00000244174 [[59330251, 59330458], [59335576, 59335690], [59336119, 59336231], [59336347, 59336526], [59337090, 59337236], [59337948, 59338150], [59338753, 59338859], [59340193, 59340278], [59342486, 59343279]] [[59330430, 59330458], [59335576, 59335690], [59336119, 59336231], [59336347, 59336526], [59337090, 59337236], [59337948, 59338150], [59338753, 59338859], [59340193, 59340278], [59342486, 59343080]]
ENST00000424344 [[59330251, 59330458], [59334078, 59334179], [59335552, 59335690], [59336119, 59336231], [59336347, 59336526], [59337090, 59337236], [59337948, 59338150], [59338753, 59338859], [59340193, 59340278], [59342486, 59343488]] [[59335611, 59335690], [59336119, 59336231], [59336347, 59336526], [59337090, 59337236], [59337948, 59338150], [59338753, 59338859], [59340193, 59340278], [59342486, 59343080]]
ENST00000369423 [[59330376, 59330458], [59334078, 59334179], [59335552, 59335690], [59336119, 59336231], [59336354, 59336526], [59337119, 59337236], [59337948, 59338150], [59338753, 59338859], [59342486, 59343488]] [[59330414, 59330458], [59334078, 59334179], [59335552, 59335690], [59336119, 59336231], [59336354, 59336526], [59337119, 59337236], [59337948, 59338150], [59338753, 59338859], [59342486, 59342523]]
ENST00000540897 [[59330376, 59330458], [59334078, 59334179], [59335552, 59335690], [59336119, 59336231], [59336354, 59336526], [59337119, 59337236], [59337948, 59338150], [59338753, 59338859], [59342486, 59343488]] [[59330444, 59330458], [59334078, 59334179], [59335552, 59335690], [59336119, 59336231], [59336354, 59336526], [59337119, 59337236], [59337948, 59338150], [59338753, 59338859], [59342486, 59342523]]
ENST00000489233 [[59330404, 59330458], [59334000, 59334179], [59335576, 59335641]] None
ENST00000494962 [[59338784, 59338859], [59340193, 59340278], [59340569, 59340717]] None
NM_002186 [[155227245, 155227452], [155232570, 155232684], [155233113, 155233225], [155233341, 155233520], [155234084, 155234230], [155234942, 155235144], [155235747, 155235853], [155237187, 155237272], [155239480, 155240482]] [[155227424, 155227452], [155232570, 155232684], [155233113, 155233225], [155233341, 155233520], [155234084, 155234230], [155234942, 155235144], [155235747, 155235853], [155237187, 155237272], [155239480, 155240074]]
NM_176786 [[155227245, 155227452], [155231072, 155231173], [155232546, 155232684], [155233113, 155233225], [155233348, 155233520], [155234113, 155234230], [155234942, 155235144], [155235747, 155235853], [155239480, 155240482]] [[155227408, 155227452], [155231072, 155231173], [155232546, 155232684], [155233113, 155233225], [155233348, 155233520], [155234113, 155234230], [155234942, 155235144], [155235747, 155235853], [155239480, 155239517]]
NM_002186 [[59330251, 59330458], [59335576, 59335690], [59336119, 59336231], [59336347, 59336526], [59337090, 59337236], [59337948, 59338150], [59338753, 59338859], [59340193, 59340278], [59342486, 59343488]] [[59330430, 59330458], [59335576, 59335690], [59336119, 59336231], [59336347, 59336526], [59337090, 59337236], [59337948, 59338150], [59338753, 59338859], [59340193, 59340278], [59342486, 59343080]]
NM_176786 [[59330251, 59330458], [59334078, 59334179], [59335552, 59335690], [59336119, 59336231], [59336354, 59336526], [59337119, 59337236], [59337948, 59338150], [59338753, 59338859], [59342486, 59343488]] [[59330414, 59330458], [59334078, 59334179], [59335552, 59335690], [59336119, 59336231], [59336354, 59336526], [59337119, 59337236], [59337948, 59338150], [59338753, 59338859], [59342486, 59342523]]
Promoter
Chrom Start End Description
chrX 155227315 155227335 CAGE_peak_3_at_IL9R_5end
chrX 155227354 155227366 CAGE_peak_1_at_IL9R_5end
chrX 155227375 155227392 CAGE_peak_2_at_IL9R_5end
chrX 155227410 155227421 CAGE_peak_4_at_IL9R_5end
chrX 155234152 155234153 CAGE_peak_8_at_IL9R_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chrX GH0XI155997 155997647 155997706 1.04 [{'connected_gene': 'IL9R', 'score': 550.77}, {'connected_gene': 'ENSG00000270726', 'score': 0.44}]